ATP13A2 — 1227 ClinVar variants

Pathogenic 46

• p.Arg487Ter Multiple submitters Inborn genetic diseases
• p.Arg819Ter Multiple submitters Kufor-Rakeb syndrome
• p.His202fs Multiple submitters Inborn genetic diseases
• p.Leu345fs Multiple submitters ATP13A2-related disorder
• p.Ser700fs Multiple submitters neurodegeneration with brain iron accumulation
• p.Trp258Ter Multiple submitters autosomal recessive spastic paraplegia type 78
• c.1749+442_2251+512del Single submitter Kufor-Rakeb syndrome
• p.Ala1069fs Single submitter Kufor-Rakeb syndrome
• p.Ala461fs Single submitter Kufor-Rakeb syndrome
• p.Ala646fs Single submitter autosomal recessive spastic paraplegia type 78
• p.Arg192fs Single submitter Kufor-Rakeb syndrome
• p.Arg449Ter Single submitter autosomal recessive spastic paraplegia type 78
• p.Arg460fs Single submitter Kufor-Rakeb syndrome
• p.Asn455fs Single submitter Kufor-Rakeb syndrome
• p.Asp127fs Single submitter autosomal recessive spastic paraplegia type 78
• p.Asp715_Leu716insTer Single submitter Kufor-Rakeb syndrome
• p.Cys864Ter Single submitter autosomal recessive spastic paraplegia type 78
• p.Gln179fs Single submitter Kufor-Rakeb syndrome
• p.Gln207Ter Single submitter Kufor-Rakeb syndrome
• p.Gln230Ter Single submitter autosomal recessive spastic paraplegia type 78
• p.Gln322fs Single submitter autosomal recessive spastic paraplegia type 78
• p.Gln705Ter Single submitter autosomal recessive spastic paraplegia type 78
• p.Gln847fs Single submitter Kufor-Rakeb syndrome
• p.Gln847Ter Single submitter autosomal recessive spastic paraplegia type 78
• p.Glu1046Ter Single submitter Kufor-Rakeb syndrome
• p.Glu118Ter Single submitter neurodegeneration with brain iron accumulation
• p.Glu609Ter Single submitter autosomal recessive spastic paraplegia type 78
• p.His372fs Single submitter Kufor-Rakeb syndrome
• p.Leu1053fs Single submitter autosomal recessive spastic paraplegia type 78
• p.Phe830fs Single submitter Inborn genetic diseases
• p.Pro657fs Single submitter autosomal recessive spastic paraplegia type 78
• p.Ser1052fs Single submitter autosomal recessive spastic paraplegia type 78
• p.Ser31Ter Single submitter ATP13A2-related disorder
• p.Ser349fs Single submitter autosomal recessive spastic paraplegia type 78
• p.Trp71Ter Single submitter Kufor-Rakeb syndrome
• p.Val137fs Single submitter Kufor-Rakeb syndrome
• p.Val73fs Single submitter autosomal recessive spastic paraplegia type 78
• p.Val863fs Single submitter autosomal recessive spastic paraplegia type 78
• c.1353+3A>T No assertion criteria Kufor-Rakeb syndrome
• p.Gly877Arg No assertion criteria Kufor-Rakeb syndrome
• p.Leu552fs No assertion criteria Kufor-Rakeb syndrome
• p.Met854Arg No assertion criteria Kufor-Rakeb syndrome
• p.Phe1051del No assertion criteria autosomal recessive spastic paraplegia type 78
• p.Phe851fs No assertion criteria Kufor-Rakeb syndrome
• p.Thr368fs No assertion criteria Kufor-Rakeb syndrome
• p.Thr517Ile No assertion criteria autosomal recessive spastic paraplegia type 78

Pathogenic/Likely pathogenic 11

• c.1306+5G>A Multiple submitters autosomal recessive spastic paraplegia type 78
• c.2529+1G>A Multiple submitters autosomal recessive spastic paraplegia type 78
• c.477+2T>G Multiple submitters Kufor-Rakeb syndrome
• p.Arg553Ter Multiple submitters autosomal recessive spastic paraplegia type 78
• p.Gln635Ter Multiple submitters ATP13A2-related disorder
• p.Gln706Ter Multiple submitters autosomal recessive spastic paraplegia type 78
• p.Gly504Arg Multiple submitters autosomal recessive spastic paraplegia type 78
• p.Leu789fs Multiple submitters ATP13A2-related disorder
• p.Tyr1020fs Multiple submitters autosomal recessive spastic paraplegia type 78
• p.Val712fs Multiple submitters Kufor-Rakeb syndrome
• p.Gln122Ter No assertion criteria autosomal recessive spastic paraplegia type 78

Likely pathogenic 36

• p.Arg740Ter Multiple submitters autosomal recessive spastic paraplegia type 78
• p.Val479fs Multiple submitters autosomal recessive spastic paraplegia type 78
• c.1040-1G>A Single submitter Kufor-Rakeb syndrome
• c.11-2A>G Single submitter autosomal recessive spastic paraplegia type 78
• c.1306+1G>C Single submitter Kufor-Rakeb syndrome
• c.1353_1353+1del Single submitter Kufor-Rakeb syndrome
• c.1354-9_1358del Single submitter autosomal recessive spastic paraplegia type 78
• c.1845+1G>A Single submitter autosomal recessive spastic paraplegia type 78
• c.1846-2A>G Single submitter autosomal recessive spastic paraplegia type 78
• c.2006-1G>C Single submitter autosomal recessive spastic paraplegia type 78
• c.2126+2T>C Single submitter ATP13A2-related disorder
• c.2127-2_2127-1delinsCC Single submitter autosomal recessive spastic paraplegia type 78
• c.2413-1G>C Single submitter autosomal recessive spastic paraplegia type 78
• c.2413-2A>G Single submitter autosomal recessive spastic paraplegia type 78
• c.2609+1G>C Single submitter Kufor-Rakeb syndrome
• c.2763-4_2763-1del Single submitter Kufor-Rakeb syndrome
• c.3083+1G>C Single submitter Kufor-Rakeb syndrome
• c.3083+2T>C Single submitter autosomal recessive spastic paraplegia type 78
• c.557+1G>T Single submitter autosomal recessive spastic paraplegia type 78
• c.558-1G>T Single submitter Kufor-Rakeb syndrome
• p.Gln1140Ter Single submitter autosomal recessive spastic paraplegia type 78
• p.Gln534Ter Single submitter neurodegeneration with brain iron accumulation
• p.Gln613Ter Single submitter autosomal recessive spastic paraplegia type 78
• p.Gln737Ter Single submitter ATP13A2-related disorder
• p.Gly1094fs Single submitter neurodegeneration with brain iron accumulation
• p.Leu1059Arg Single submitter Inborn genetic diseases
• p.Leu677fs Single submitter
• p.Met477fs Single submitter Kufor-Rakeb syndrome
• p.Phe1051fs Single submitter autosomal recessive spastic paraplegia type 78
• p.Pro416fs Single submitter
• p.Ser433fs Single submitter Kufor-Rakeb syndrome
• p.Ser941fs Single submitter ATP13A2-related disorder
• p.Trp583Ter Single submitter
• p.Tyr16fs Single submitter autosomal recessive spastic paraplegia type 78
• p.Tyr812Ter Single submitter autosomal recessive spastic paraplegia type 78
• p.Val394fs Single submitter Kufor-Rakeb syndrome

Conflicting classifications of pathogenicity 105

• c.1039+6C>T Single submitter Inborn genetic diseases
• c.106-8G>A Single submitter Kufor-Rakeb syndrome
• c.1195+5G>A Single submitter Inborn genetic diseases
• c.1307-14C>T Single submitter Kufor-Rakeb syndrome
• c.1543-7C>T Single submitter autosomal recessive spastic paraplegia type 78
• c.2251+6A>C Single submitter Kufor-Rakeb syndrome
• c.2252-11A>G Single submitter Kufor-Rakeb syndrome
• c.2609+10C>T Single submitter autosomal recessive spastic paraplegia type 78
• c.3084-10G>A Single submitter Kufor-Rakeb syndrome
• c.3235+15G>A Single submitter Kufor-Rakeb syndrome
• c.3405+9C>T Single submitter Kufor-Rakeb syndrome
• c.348-9_351del Single submitter Kufor-Rakeb syndrome
• c.841-4A>G Single submitter Kufor-Rakeb syndrome
• c.*130C>T Single submitter isolated cerebellar hypoplasia/agenesis
• c.*155C>T Single submitter autosomal recessive spastic paraplegia type 78
• c.*182C>T Single submitter Kufor-Rakeb syndrome
• c.*243A>C Single submitter Kufor-Rakeb syndrome
• p.Ala1037= Single submitter Kufor-Rakeb syndrome
• p.Ala1086Val Single submitter autosomal recessive spastic paraplegia type 78 ⚠
• p.Ala1167= Single submitter Kufor-Rakeb syndrome
• p.Ala132= Single submitter Kufor-Rakeb syndrome
• p.Ala136Val Single submitter Kufor-Rakeb syndrome ⚠
• p.Ala249Thr Single submitter autosomal recessive spastic paraplegia type 78 ⚠
• p.Ala249Val Single submitter Kufor-Rakeb syndrome ⚠
• p.Ala331= Single submitter Kufor-Rakeb syndrome
• p.Ala3Pro Single submitter Inborn genetic diseases ⚠
• p.Ala642= Single submitter Inborn genetic diseases
• p.Ala642Val Single submitter Inborn genetic diseases ⚠
• p.Ala674Thr Single submitter Inborn genetic diseases ⚠
• p.Ala746Thr Single submitter Inborn genetic diseases ⚠
• p.Ala880= Single submitter Kufor-Rakeb syndrome
• p.Ala984= Single submitter autosomal recessive spastic paraplegia type 78
• p.Arg1147Cys Single submitter Inborn genetic diseases ⚠
• p.Arg1148His Single submitter autosomal recessive spastic paraplegia type 78 ⚠
• p.Arg1158Cys Single submitter Inborn genetic diseases ⚠
• p.Arg1158His Single submitter Kufor-Rakeb syndrome ⚠
• p.Arg161Gln Single submitter Kufor-Rakeb syndrome ⚠
• p.Arg370Trp Single submitter Kufor-Rakeb syndrome ⚠
• p.Arg415Gln Single submitter Inborn genetic diseases ⚠
• p.Arg415Trp Single submitter Inborn genetic diseases ⚠
• p.Arg451Gln Single submitter ATP13A2-related disorder ⚠
• p.Arg487Gln Single submitter Kufor-Rakeb syndrome ⚠
• p.Arg563Gln Single submitter Inborn genetic diseases ⚠
• p.Arg66His Single submitter Inborn genetic diseases ⚠
• p.Arg762Gln Single submitter autosomal recessive spastic paraplegia type 78 ⚠
• p.Arg78Gln Single submitter Kufor-Rakeb syndrome ⚠
• p.Arg853His Single submitter Kufor-Rakeb syndrome ⚠
• p.Arg989Trp Single submitter autosomal recessive spastic paraplegia type 78 ⚠
• p.Asn1110Ser Single submitter Kufor-Rakeb syndrome ⚠
• p.Asp571Asn Single submitter Kufor-Rakeb syndrome
• p.Cys317= Single submitter Inborn genetic diseases
• p.Cys376= Single submitter Kufor-Rakeb syndrome
• p.Cys401= Single submitter Kufor-Rakeb syndrome
• p.Cys401Tyr Single submitter Inborn genetic diseases ⚠
• p.Gln755Glu Single submitter autosomal recessive spastic paraplegia type 78 ⚠
• p.Glu367Lys Single submitter autosomal recessive spastic paraplegia type 78 ⚠
• p.Glu865Lys Single submitter ATP13A2-related disorder ⚠
• p.Gly1115Ser Single submitter Kufor-Rakeb syndrome ⚠
• p.Gly1177Ser Single submitter autosomal recessive spastic paraplegia type 78 ⚠
• p.Gly158Arg Single submitter Kufor-Rakeb syndrome ⚠
• p.Gly315Arg Single submitter Kufor-Rakeb syndrome ⚠
• p.Gly360= Single submitter autosomal recessive spastic paraplegia type 78
• p.Gly360Glu Single submitter Kufor-Rakeb syndrome ⚠
• p.Gly388Glu Single submitter autosomal recessive spastic paraplegia type 78 ⚠
• p.Gly439= Single submitter Kufor-Rakeb syndrome
• p.Gly802= Single submitter autosomal recessive spastic paraplegia type 78
• p.Gly802Ser Single submitter Inborn genetic diseases ⚠
• p.His51= Single submitter autosomal recessive spastic paraplegia type 78
• p.His777= Single submitter Inborn genetic diseases
• p.Ile946Phe Single submitter Kufor-Rakeb syndrome ⚠
• p.Ile966= Single submitter Kufor-Rakeb syndrome
• p.Leu1126= Single submitter autosomal recessive spastic paraplegia type 78
• p.Leu437Val Single submitter Inborn genetic diseases ⚠
• p.Pro1099= Single submitter Inborn genetic diseases
• p.Pro1105Leu Single submitter Inborn genetic diseases ⚠
• p.Pro1143= Single submitter ATP13A2-related disorder
• p.Pro1173fs Single submitter autosomal recessive spastic paraplegia type 78
• p.Pro1173Leu Single submitter autosomal recessive spastic paraplegia type 78 ⚠
• p.Pro119Leu Single submitter Kufor-Rakeb syndrome ⚠
• p.Pro589= Single submitter Kufor-Rakeb syndrome
• p.Pro589Leu Single submitter Inborn genetic diseases ⚠
• p.Ser282= Single submitter autosomal recessive spastic paraplegia type 78
• p.Ser38= Single submitter autosomal recessive spastic paraplegia type 78
• p.Ser908Leu Single submitter autosomal recessive spastic paraplegia type 78 ⚠
• p.Thr1114= Single submitter autosomal recessive spastic paraplegia type 78
• p.Thr12= Single submitter autosomal recessive spastic paraplegia type 78
• p.Thr12Met Single submitter autosomal recessive spastic paraplegia type 78 ⚠
• p.Thr14= Single submitter autosomal recessive spastic paraplegia type 78
• p.Thr355= Single submitter autosomal recessive spastic paraplegia type 78
• p.Thr402Met Single submitter autosomal recessive spastic paraplegia type 78 ⚠
• p.Thr733Met Single submitter Kufor-Rakeb syndrome ⚠
• p.Thr813= Single submitter Kufor-Rakeb syndrome
• p.Thr981Met Single submitter Kufor-Rakeb syndrome ⚠
• p.Tyr166= Single submitter Inborn genetic diseases
• p.Tyr483= Single submitter autosomal recessive spastic paraplegia type 78
• p.Val1065Met Single submitter Kufor-Rakeb syndrome ⚠
• p.Val1091Ile Single submitter Kufor-Rakeb syndrome ⚠
• p.Val197Ile Single submitter Inborn genetic diseases ⚠
• p.Val624Ile Single submitter Kufor-Rakeb syndrome ⚠
• p.Val776Ile Single submitter Inborn genetic diseases ⚠
• p.Val776Leu Single submitter Inborn genetic diseases ⚠
• p.Val803Ile Single submitter autosomal recessive spastic paraplegia type 78 ⚠
• p.Val873= Single submitter Kufor-Rakeb syndrome
• p.Val916Met Single submitter Inborn genetic diseases ⚠
• p.Val999Met Single submitter Kufor-Rakeb syndrome ⚠

Benign 33

• c.1040-249A>C Multiple submitters
• c.106-14C>T Multiple submitters autosomal recessive spastic paraplegia type 78
• c.1195+247C>T Multiple submitters
• c.1195+66A>G Multiple submitters autosomal recessive spastic paraplegia type 78
• c.1195+82G>A Multiple submitters
• c.1196-207T>A Multiple submitters
• c.1750-211G>A Multiple submitters
• c.289-109T>C Multiple submitters
• c.3084-3C>T Multiple submitters autosomal recessive spastic paraplegia type 78
• c.3235+17G>A Multiple submitters Kufor-Rakeb syndrome
• c.3235+44_3235+55del Multiple submitters
• c.3235+86C>T Multiple submitters
• c.3236-30C>T Multiple submitters autosomal recessive spastic paraplegia type 78
• c.347+73C>G Multiple submitters
• c.705+228A>G Multiple submitters Kufor-Rakeb syndrome
• c.*124C>T Multiple submitters Kufor-Rakeb syndrome
• p.Ala1064= Multiple submitters autosomal recessive spastic paraplegia type 78
• p.Ala335= Multiple submitters Kufor-Rakeb syndrome
• p.Gly879= Multiple submitters autosomal recessive spastic paraplegia type 78
• p.Leu539= Multiple submitters Kufor-Rakeb syndrome
• p.Pro1172= Multiple submitters autosomal recessive spastic paraplegia type 78
• p.Pro605= Multiple submitters autosomal recessive spastic paraplegia type 78
• p.Ser930= Multiple submitters Inborn genetic diseases
• p.Val990= Multiple submitters autosomal recessive spastic paraplegia type 78
• c.1040-308A>G Single submitter
• c.1195+143dup Single submitter
• c.1306+42del Single submitter
• c.1354-7del Single submitter Kufor-Rakeb syndrome
• c.1845+15del Single submitter Kufor-Rakeb syndrome
• c.2251+164A>G Single submitter
• c.2610-273A>G Single submitter
• c.2860-309T>C Single submitter
• c.907+36T>G Single submitter

Benign/Likely benign 28

• c.106-5C>T Multiple submitters autosomal recessive spastic paraplegia type 78
• c.1195+10G>A Multiple submitters autosomal recessive spastic paraplegia type 78
• c.1195+9C>T Multiple submitters autosomal recessive spastic paraplegia type 78
• c.2251+20C>T Multiple submitters Kufor-Rakeb syndrome
• c.2529+9G>A Multiple submitters Kufor-Rakeb syndrome
• c.2763-16G>A Multiple submitters Kufor-Rakeb syndrome
• c.3406-14C>T Multiple submitters Kufor-Rakeb syndrome
• c.635+15G>A Multiple submitters Kufor-Rakeb syndrome
• c.706-14C>T Multiple submitters Kufor-Rakeb syndrome
• c.*120A>T Multiple submitters Kufor-Rakeb syndrome
• c.*140C>G Multiple submitters Kufor-Rakeb syndrome
• c.*231G>A Multiple submitters Kufor-Rakeb syndrome
• p.Ala1069Thr Multiple submitters Kufor-Rakeb syndrome
• p.Ala1144Thr Multiple submitters Kufor-Rakeb syndrome
• p.Arg294Gln Multiple submitters Kufor-Rakeb syndrome
• p.Arg783Gln Multiple submitters Inborn genetic diseases
• p.Glu914= Multiple submitters autosomal recessive spastic paraplegia type 78
• p.Gly49Ser Multiple submitters Inborn genetic diseases
• p.Leu789= Multiple submitters Inborn genetic diseases
• p.Phe1029= Multiple submitters Kufor-Rakeb syndrome
• p.Phe512= Multiple submitters Inborn genetic diseases
• p.Pro44= Multiple submitters autosomal recessive spastic paraplegia type 78
• p.Pro538= Multiple submitters autosomal recessive spastic paraplegia type 78
• p.Ser151= Multiple submitters Kufor-Rakeb syndrome
• p.Ser717= Multiple submitters autosomal recessive spastic paraplegia type 78
• p.Ser908= Multiple submitters Kufor-Rakeb syndrome
• p.Thr1048= Multiple submitters Kufor-Rakeb syndrome
• p.Val698Ala Multiple submitters Kufor-Rakeb syndrome

Likely benign 486

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

• c.10+13T>C Multiple submitters autosomal recessive spastic paraplegia type 78
• c.106-13G>A Multiple submitters Kufor-Rakeb syndrome
• c.1196-14C>T Multiple submitters Kufor-Rakeb syndrome
• c.1196-9C>T Multiple submitters autosomal recessive spastic paraplegia type 78
• c.1543-9C>T Multiple submitters Kufor-Rakeb syndrome
• c.1750-68T>C Multiple submitters
• c.2006-20C>T Multiple submitters autosomal recessive spastic paraplegia type 78
• c.2126+13C>T Multiple submitters Kufor-Rakeb syndrome
• c.2252-8A>T Multiple submitters Kufor-Rakeb syndrome
• c.2762+18C>T Multiple submitters autosomal recessive spastic paraplegia type 78
• c.2859+33G>A Multiple submitters
• c.3235+11G>C Multiple submitters autosomal recessive spastic paraplegia type 78
• c.3235+13G>A Multiple submitters Kufor-Rakeb syndrome
• c.3235+20C>T Multiple submitters Kufor-Rakeb syndrome
• c.3406-13del Multiple submitters Kufor-Rakeb syndrome
• c.347+31G>A Multiple submitters
• c.558-15C>T Multiple submitters Kufor-Rakeb syndrome
• c.635+19C>T Multiple submitters Kufor-Rakeb syndrome
• c.705+128C>T Multiple submitters
• c.705+214T>C Multiple submitters
• c.907+29G>T Multiple submitters
• c.-170C>T Multiple submitters Kufor-Rakeb syndrome
• c.*158T>C Multiple submitters Kufor-Rakeb syndrome
• c.*158T>G Multiple submitters
• p.Ala1069= Multiple submitters Kufor-Rakeb syndrome
• p.Ala1107= Multiple submitters Kufor-Rakeb syndrome
• p.Ala136= Multiple submitters Kufor-Rakeb syndrome
• p.Ala249= Multiple submitters autosomal recessive spastic paraplegia type 78
• p.Ala661= Multiple submitters autosomal recessive spastic paraplegia type 78
• p.Ala746= Multiple submitters autosomal recessive spastic paraplegia type 78
• p.Ala757= Multiple submitters Kufor-Rakeb syndrome
• p.Ala85= Multiple submitters Kufor-Rakeb syndrome
• p.Ala885= Multiple submitters Inborn genetic diseases
• p.Arg1109= Multiple submitters Inborn genetic diseases
• p.Arg741= Multiple submitters autosomal recessive spastic paraplegia type 78
• p.Arg745= Multiple submitters Kufor-Rakeb syndrome
• p.Asp195= Multiple submitters Kufor-Rakeb syndrome
• p.Asp196= Multiple submitters Kufor-Rakeb syndrome
• p.Asp521= Multiple submitters Inborn genetic diseases
• p.Asp524= Multiple submitters autosomal recessive spastic paraplegia type 78
• p.Asp878= Multiple submitters Inborn genetic diseases
• p.Cys262= Multiple submitters Kufor-Rakeb syndrome
• p.Cys864= Multiple submitters Kufor-Rakeb syndrome
• p.Gln706= Multiple submitters Inborn genetic diseases
• p.Gly1014= Multiple submitters Kufor-Rakeb syndrome
• p.Gly347= Multiple submitters Kufor-Rakeb syndrome
• p.Gly570= Multiple submitters Inborn genetic diseases
• p.Gly720= Multiple submitters autosomal recessive spastic paraplegia type 78
• p.His780= Multiple submitters Kufor-Rakeb syndrome
• p.His84= Multiple submitters Kufor-Rakeb syndrome
• p.Ile176= Multiple submitters Inborn genetic diseases
• p.Ile248= Multiple submitters autosomal recessive spastic paraplegia type 78
• p.Ile775= Multiple submitters Kufor-Rakeb syndrome
• p.Leu1061= Multiple submitters Inborn genetic diseases
• p.Leu1142= Multiple submitters Kufor-Rakeb syndrome
• p.Leu447= Multiple submitters Inborn genetic diseases
• p.Leu555= Multiple submitters Kufor-Rakeb syndrome
• p.Leu561= Multiple submitters Kufor-Rakeb syndrome
• p.Leu634Val Multiple submitters Inborn genetic diseases ⚠
• p.Leu64= Multiple submitters Kufor-Rakeb syndrome
• p.Leu88= Multiple submitters autosomal recessive spastic paraplegia type 78
• p.Leu895= Multiple submitters Inborn genetic diseases
• p.Pro1175= Multiple submitters autosomal recessive spastic paraplegia type 78
• p.Pro300= Multiple submitters autosomal recessive spastic paraplegia type 78
• p.Pro314= Multiple submitters Kufor-Rakeb syndrome
• p.Pro543= Multiple submitters autosomal recessive spastic paraplegia type 78
• p.Pro568= Multiple submitters Inborn genetic diseases
• p.Pro619= Multiple submitters Kufor-Rakeb syndrome
• p.Pro666= Multiple submitters
• p.Pro993= Multiple submitters autosomal recessive spastic paraplegia type 78
• p.Ser1136= Multiple submitters Kufor-Rakeb syndrome
• p.Ser274= Multiple submitters Kufor-Rakeb syndrome
• p.Ser282Cys Multiple submitters autosomal recessive spastic paraplegia type 78 ⚠
• p.Ser826= Multiple submitters autosomal recessive spastic paraplegia type 78
• p.Ser947= Multiple submitters Inborn genetic diseases
• p.Thr145= Multiple submitters Inborn genetic diseases
• p.Thr20= Multiple submitters Inborn genetic diseases
• p.Thr368= Multiple submitters Kufor-Rakeb syndrome
• p.Thr481= Multiple submitters Kufor-Rakeb syndrome
• p.Tyr216= Multiple submitters Kufor-Rakeb syndrome
• p.Tyr259= Multiple submitters Kufor-Rakeb syndrome
• p.Tyr652= Multiple submitters Kufor-Rakeb syndrome
• p.Val233= Multiple submitters Kufor-Rakeb syndrome
• p.Val687= Multiple submitters Kufor-Rakeb syndrome
• p.Val891= Multiple submitters Kufor-Rakeb syndrome
• p.Val903= Multiple submitters Kufor-Rakeb syndrome
• c.10+116dup Single submitter
• c.10+14C>T Single submitter autosomal recessive spastic paraplegia type 78
• c.10+276G>A Single submitter
• c.1039+11A>G Single submitter Kufor-Rakeb syndrome
• c.1039+15C>G Single submitter Kufor-Rakeb syndrome
• c.1040-12G>A Single submitter Kufor-Rakeb syndrome
• c.1040-13C>T Single submitter autosomal recessive spastic paraplegia type 78
• c.1040-18C>T Single submitter autosomal recessive spastic paraplegia type 78
• c.1040-242C>G Single submitter
• c.106-20C>T Single submitter Kufor-Rakeb syndrome
• c.106-45C>T Single submitter
• c.106-4G>A Single submitter autosomal recessive spastic paraplegia type 78
• c.106-9C>T Single submitter autosomal recessive spastic paraplegia type 78
• c.11-227G>A Single submitter
• c.11-29C>T Single submitter
• c.1195+12G>C Single submitter Kufor-Rakeb syndrome
• c.1195+18G>C Single submitter Kufor-Rakeb syndrome
• c.1195+199C>G Single submitter
• c.1195+19G>A Single submitter autosomal recessive spastic paraplegia type 78
• c.1195+7G>A Single submitter autosomal recessive spastic paraplegia type 78
• c.1196-11C>T Single submitter
• c.1196-17C>A Single submitter
• c.1196-17C>T Single submitter Kufor-Rakeb syndrome
• c.1196-79C>T Single submitter
• c.1306+20C>A Single submitter autosomal recessive spastic paraplegia type 78
• c.1307-11T>C Single submitter Kufor-Rakeb syndrome
• c.1307-13G>A Single submitter autosomal recessive spastic paraplegia type 78
• c.1307-20G>T Single submitter Kufor-Rakeb syndrome
• c.1307-8C>T Single submitter Kufor-Rakeb syndrome
• c.1353+16G>C Single submitter Kufor-Rakeb syndrome
• c.1353+17G>T Single submitter Kufor-Rakeb syndrome
• c.1353+18G>A Single submitter autosomal recessive spastic paraplegia type 78
• c.1353+8T>C Single submitter autosomal recessive spastic paraplegia type 78
• c.1354-11C>T Single submitter Kufor-Rakeb syndrome
• c.1354-12G>A Single submitter autosomal recessive spastic paraplegia type 78
• c.1354-17A>C Single submitter Kufor-Rakeb syndrome
• c.1354-17A>G Single submitter
• c.1542+11A>G Single submitter Kufor-Rakeb syndrome
• c.1542+11A>T Single submitter Kufor-Rakeb syndrome
• c.1542+13G>A Single submitter Kufor-Rakeb syndrome
• c.1542+8C>T Single submitter autosomal recessive spastic paraplegia type 78
• c.1543-11G>A Single submitter autosomal recessive spastic paraplegia type 78
• c.1543-14C>T Single submitter autosomal recessive spastic paraplegia type 78
• c.1543-15_1543-12del Single submitter autosomal recessive spastic paraplegia type 78
• c.1543-17C>A Single submitter autosomal recessive spastic paraplegia type 78
• c.1543-17C>T Single submitter Kufor-Rakeb syndrome
• c.1543-18C>T Single submitter autosomal recessive spastic paraplegia type 78
• c.1749+12A>G Single submitter autosomal recessive spastic paraplegia type 78
• c.1749+15C>G Single submitter autosomal recessive spastic paraplegia type 78
• c.1749+8G>T Single submitter Kufor-Rakeb syndrome
• c.1750-11C>A Single submitter autosomal recessive spastic paraplegia type 78
• c.1750-14T>C Single submitter Kufor-Rakeb syndrome
• c.1750-20C>A Single submitter Kufor-Rakeb syndrome
• c.1750-20C>G Single submitter Kufor-Rakeb syndrome
• c.1750-8C>T Single submitter autosomal recessive spastic paraplegia type 78
• c.1845+14G>A Single submitter Kufor-Rakeb syndrome
• c.1845+15G>A Single submitter Kufor-Rakeb syndrome
• c.1845+17C>T Single submitter Kufor-Rakeb syndrome
• c.1846-28C>T Single submitter
• c.2005+10_2005+13dup Single submitter autosomal recessive spastic paraplegia type 78
• c.2005+11A>G Single submitter autosomal recessive spastic paraplegia type 78
• c.2005+13G>A Single submitter Kufor-Rakeb syndrome
• c.2005+19G>C Single submitter Kufor-Rakeb syndrome
• c.2006-4G>T Single submitter autosomal recessive spastic paraplegia type 78
• c.2006-7dup Single submitter Kufor-Rakeb syndrome
• c.2006-9C>A Single submitter Kufor-Rakeb syndrome
• c.2126+11C>A Single submitter Kufor-Rakeb syndrome
• c.2126+16G>C Single submitter autosomal recessive spastic paraplegia type 78
• c.2126+19C>T Single submitter Kufor-Rakeb syndrome
• c.2126+20C>T Single submitter autosomal recessive spastic paraplegia type 78
• c.2126+56C>T Single submitter
• c.2126+7C>T Single submitter Kufor-Rakeb syndrome
• c.2127-13G>A Single submitter autosomal recessive spastic paraplegia type 78
• c.2251+11A>C Single submitter autosomal recessive spastic paraplegia type 78
• c.2251+19G>A Single submitter Kufor-Rakeb syndrome
• c.2251+45C>T Single submitter
• c.2251+62G>A Single submitter
• c.2252-12C>T Single submitter autosomal recessive spastic paraplegia type 78
• c.2252-18T>C Single submitter Kufor-Rakeb syndrome
• c.2252-7C>A Single submitter autosomal recessive spastic paraplegia type 78
• c.2412+12C>G Single submitter Kufor-Rakeb syndrome
• c.2412+45C>A Single submitter
• c.2529+10C>T Single submitter Kufor-Rakeb syndrome
• c.2529+11C>T Single submitter autosomal recessive spastic paraplegia type 78
• c.2529+13C>T Single submitter Kufor-Rakeb syndrome
• c.2529+7C>T Single submitter Kufor-Rakeb syndrome
• c.2529+8C>T Single submitter autosomal recessive spastic paraplegia type 78
• c.2530-11T>C Single submitter Kufor-Rakeb syndrome
• c.2530-14C>A Single submitter Kufor-Rakeb syndrome
• c.2530-14C>T Single submitter autosomal recessive spastic paraplegia type 78
• c.2530-6T>C Single submitter Kufor-Rakeb syndrome
• c.2609+118A>G Single submitter
• c.2609+11G>A Single submitter Kufor-Rakeb syndrome
• c.2609+19G>T Single submitter autosomal recessive spastic paraplegia type 78
• c.2610-10C>G Single submitter autosomal recessive spastic paraplegia type 78
• c.2610-120G>A Single submitter
• c.2610-154T>C Single submitter
• c.2610-18G>A Single submitter Kufor-Rakeb syndrome
• c.2610-251A>G Single submitter
• c.2610-8C>T Single submitter Kufor-Rakeb syndrome
• c.2610-9T>C Single submitter autosomal recessive spastic paraplegia type 78
• c.2762+19G>A Single submitter Kufor-Rakeb syndrome
• c.2762+19G>C Single submitter Kufor-Rakeb syndrome
• c.2762+29G>A Single submitter
• c.2762+31C>T Single submitter
• c.2762+9G>A Single submitter autosomal recessive spastic paraplegia type 78
• c.2763-17C>T Single submitter autosomal recessive spastic paraplegia type 78
• c.2763-8C>A Single submitter autosomal recessive spastic paraplegia type 78
• c.2859+20C>T Single submitter autosomal recessive spastic paraplegia type 78
• c.2859+250C>A Single submitter
• c.2860-222C>T Single submitter
• c.2860-7G>A Single submitter Kufor-Rakeb syndrome
• c.288+12G>T Single submitter autosomal recessive spastic paraplegia type 78
• c.288+16A>T Single submitter Kufor-Rakeb syndrome
• c.288+17G>T Single submitter Kufor-Rakeb syndrome
• c.289-12T>C Single submitter autosomal recessive spastic paraplegia type 78
• c.289-13C>T Single submitter autosomal recessive spastic paraplegia type 78
• c.3083+18dup Single submitter Kufor-Rakeb syndrome
• c.3083+19G>C Single submitter Kufor-Rakeb syndrome
• c.3083+24C>T Single submitter
• c.3084-16A>T Single submitter autosomal recessive spastic paraplegia type 78
• c.3084-20C>A Single submitter Kufor-Rakeb syndrome
• c.3084-20C>T Single submitter autosomal recessive spastic paraplegia type 78
• c.3084-7C>T Single submitter Kufor-Rakeb syndrome
• c.3235+10C>T Single submitter Kufor-Rakeb syndrome
• c.3235+16_3235+21del Single submitter Kufor-Rakeb syndrome
• c.3235+16C>T Single submitter Kufor-Rakeb syndrome
• c.3235+19G>A Single submitter autosomal recessive spastic paraplegia type 78
• c.3236-13C>G Single submitter Kufor-Rakeb syndrome
• c.3236-19_3236-16del Single submitter Kufor-Rakeb syndrome
• c.3236-34G>A Single submitter
• c.3236-4C>G Single submitter
• c.3236-7C>T Single submitter
• c.3405+10G>A Single submitter autosomal recessive spastic paraplegia type 78
• c.3405+19C>T Single submitter autosomal recessive spastic paraplegia type 78
• c.3405+7C>A Single submitter Kufor-Rakeb syndrome
• c.3405+7C>T Single submitter autosomal recessive spastic paraplegia type 78
• c.3406-8del Single submitter Kufor-Rakeb syndrome
• c.347+12_347+13del Single submitter autosomal recessive spastic paraplegia type 78
• c.348-16T>C Single submitter Kufor-Rakeb syndrome
• c.348-17C>T Single submitter autosomal recessive spastic paraplegia type 78
• c.348-91C>A Single submitter
• c.477+12A>G Single submitter Kufor-Rakeb syndrome
• c.477+15A>C Single submitter Kufor-Rakeb syndrome
• c.477+18C>A Single submitter Kufor-Rakeb syndrome
• c.478-11C>T Single submitter Kufor-Rakeb syndrome
• c.478-13C>G Single submitter autosomal recessive spastic paraplegia type 78
• c.478-13C>T Single submitter Kufor-Rakeb syndrome
• c.478-15C>T Single submitter Kufor-Rakeb syndrome
• c.478-7C>T Single submitter autosomal recessive spastic paraplegia type 78
• c.557+7G>A Single submitter Kufor-Rakeb syndrome
• c.558-11C>T Single submitter autosomal recessive spastic paraplegia type 78
• c.558-14G>A Single submitter autosomal recessive spastic paraplegia type 78
• c.558-20C>T Single submitter autosomal recessive spastic paraplegia type 78
• c.558-5C>T Single submitter
• c.558-6C>T Single submitter Kufor-Rakeb syndrome
• c.635+10G>C Single submitter Kufor-Rakeb syndrome
• c.635+17A>G Single submitter
• c.635+20G>A Single submitter Kufor-Rakeb syndrome
• c.635+8C>T Single submitter Kufor-Rakeb syndrome
• c.636-12C>A Single submitter Kufor-Rakeb syndrome
• c.636-12C>T Single submitter autosomal recessive spastic paraplegia type 78
• c.636-19del Single submitter autosomal recessive spastic paraplegia type 78
• c.636-19G>A Single submitter Kufor-Rakeb syndrome
• c.636-4C>T Single submitter Kufor-Rakeb syndrome
• c.636-7C>T Single submitter autosomal recessive spastic paraplegia type 78
• c.705+11C>T Single submitter autosomal recessive spastic paraplegia type 78
• c.705+17G>A Single submitter autosomal recessive spastic paraplegia type 78
• c.706-11C>T Single submitter autosomal recessive spastic paraplegia type 78
• c.706-13G>A Single submitter Kufor-Rakeb syndrome
• c.706-13G>T Single submitter Kufor-Rakeb syndrome
• c.706-16C>T Single submitter Kufor-Rakeb syndrome
• c.706-17T>A Single submitter autosomal recessive spastic paraplegia type 78
• c.706-17T>C Single submitter Kufor-Rakeb syndrome
• c.706-4C>A Single submitter Kufor-Rakeb syndrome
• c.840+15G>T Single submitter Kufor-Rakeb syndrome
• c.841-15G>T Single submitter Kufor-Rakeb syndrome
• c.841-18C>T Single submitter Kufor-Rakeb syndrome
• c.841-20C>T Single submitter Kufor-Rakeb syndrome
• c.907+50G>A Single submitter
• c.908-10C>G Single submitter autosomal recessive spastic paraplegia type 78
• c.908-13T>G Single submitter Kufor-Rakeb syndrome
• c.908-14C>T Single submitter autosomal recessive spastic paraplegia type 78
• c.908-18T>A Single submitter Kufor-Rakeb syndrome
• c.908-19C>T Single submitter Kufor-Rakeb syndrome
• c.908-20C>T Single submitter Kufor-Rakeb syndrome
• c.908-8G>A Single submitter autosomal recessive spastic paraplegia type 78
• c.*11C>T Single submitter
• c.*146C>T Single submitter
• c.*17C>T Single submitter
• c.*251A>G Single submitter
• p.Ala1154= Single submitter Kufor-Rakeb syndrome
• p.Ala1176= Single submitter Kufor-Rakeb syndrome
• p.Ala141= Single submitter autosomal recessive spastic paraplegia type 78
• p.Ala154= Single submitter Kufor-Rakeb syndrome
• p.Ala214= Single submitter Kufor-Rakeb syndrome
• p.Ala236= Single submitter Kufor-Rakeb syndrome
• p.Ala366= Single submitter
• p.Ala472= Single submitter autosomal recessive spastic paraplegia type 78
• p.Ala476= Single submitter Kufor-Rakeb syndrome
• p.Ala554= Single submitter Kufor-Rakeb syndrome
• p.Ala556= Single submitter autosomal recessive spastic paraplegia type 78
• p.Ala683= Single submitter autosomal recessive spastic paraplegia type 78
• p.Ala704= Single submitter autosomal recessive spastic paraplegia type 78
• p.Ala768Gly Single submitter Inborn genetic diseases
• p.Ala799= Single submitter autosomal recessive spastic paraplegia type 78
• p.Ala83= Single submitter autosomal recessive spastic paraplegia type 78
• p.Ala852= Single submitter Kufor-Rakeb syndrome
• p.Ala888= Single submitter autosomal recessive spastic paraplegia type 78
• p.Ala995= Single submitter autosomal recessive spastic paraplegia type 78
• p.Arg1072= Single submitter Kufor-Rakeb syndrome
• p.Arg1153= Single submitter Kufor-Rakeb syndrome
• p.Arg1164= Single submitter autosomal recessive spastic paraplegia type 78
• p.Arg161= Single submitter Kufor-Rakeb syndrome

Uncertain significance 482

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

• c.1353+15T>G Multiple submitters
• c.1542+3G>A Multiple submitters Kufor-Rakeb syndrome
• c.2251+5A>G Multiple submitters Inborn genetic diseases
• c.477+5G>T Multiple submitters Inborn genetic diseases
• c.840+5G>A Multiple submitters Kufor-Rakeb syndrome
• c.*31A>G Multiple submitters
• c.*9C>A Multiple submitters Kufor-Rakeb syndrome
• p.Ala1038Thr Multiple submitters Kufor-Rakeb syndrome ⚠
• p.Ala1069Glu Multiple submitters Inborn genetic diseases ⚠
• p.Ala1069Gly Multiple submitters autosomal recessive spastic paraplegia type 78 ⚠
• p.Ala1086Thr Multiple submitters Kufor-Rakeb syndrome ⚠
• p.Ala1107Val Multiple submitters autosomal recessive spastic paraplegia type 78 ⚠
• p.Ala125Gly Multiple submitters Inborn genetic diseases ⚠
• p.Ala125Pro Multiple submitters autosomal recessive spastic paraplegia type 78 ⚠
• p.Ala132Thr Multiple submitters autosomal recessive spastic paraplegia type 78 ⚠
• p.Ala154Val Multiple submitters autosomal recessive spastic paraplegia type 78 ⚠
• p.Ala260Thr Multiple submitters Kufor-Rakeb syndrome ⚠
• p.Ala335Val Multiple submitters Kufor-Rakeb syndrome ⚠
• p.Ala403Glu Multiple submitters Kufor-Rakeb syndrome ⚠
• p.Ala556Val Multiple submitters Inborn genetic diseases ⚠
• p.Ala594Val Multiple submitters ⚠
• p.Ala633Ser Multiple submitters autosomal recessive spastic paraplegia type 78 ⚠
• p.Ala799Thr Multiple submitters Kufor-Rakeb syndrome ⚠
• p.Ala855Thr Multiple submitters Kufor-Rakeb syndrome ⚠
• p.Ala888Val Multiple submitters autosomal recessive spastic paraplegia type 78 ⚠
• p.Ala984Val Multiple submitters Kufor-Rakeb syndrome ⚠
• p.Ala995Val Multiple submitters autosomal recessive spastic paraplegia type 78 ⚠
• p.Arg1073Gln Multiple submitters Inborn genetic diseases ⚠
• p.Arg1147Ser Multiple submitters autosomal recessive spastic paraplegia type 78 ⚠
• p.Arg1148Cys Multiple submitters Kufor-Rakeb syndrome ⚠
• p.Arg1150Gln Multiple submitters Kufor-Rakeb syndrome ⚠
• p.Arg1150Trp Multiple submitters Kufor-Rakeb syndrome ⚠
• p.Arg1153Gln Multiple submitters ATP13A2-related disorder ⚠
• p.Arg1164Ter Multiple submitters Kufor-Rakeb syndrome
• p.Arg1180Lys Multiple submitters Inborn genetic diseases ⚠
• p.Arg1180Trp Multiple submitters Kufor-Rakeb syndrome ⚠
• p.Arg129Trp Multiple submitters Kufor-Rakeb syndrome ⚠
• p.Arg164Trp Multiple submitters Kufor-Rakeb syndrome ⚠
• p.Arg199Cys Multiple submitters Kufor-Rakeb syndrome ⚠
• p.Arg201Cys Multiple submitters Kufor-Rakeb syndrome ⚠
• p.Arg294Trp Multiple submitters Kufor-Rakeb syndrome ⚠
• p.Arg370Gln Multiple submitters Kufor-Rakeb syndrome ⚠
• p.Arg371Gln Multiple submitters Kufor-Rakeb syndrome ⚠
• p.Arg371Trp Multiple submitters Kufor-Rakeb syndrome ⚠
• p.Arg397Cys Multiple submitters Inborn genetic diseases ⚠
• p.Arg397His Multiple submitters Inborn genetic diseases ⚠
• p.Arg449Gln Multiple submitters Inborn genetic diseases ⚠
• p.Arg451Trp Multiple submitters Inborn genetic diseases ⚠
• p.Arg489Trp Multiple submitters autosomal recessive spastic paraplegia type 78 ⚠
• p.Arg500Cys Multiple submitters autosomal recessive spastic paraplegia type 78 ⚠
• p.Arg544Cys Multiple submitters Kufor-Rakeb syndrome ⚠
• p.Arg544His Multiple submitters Kufor-Rakeb syndrome ⚠
• p.Arg545His Multiple submitters Inborn genetic diseases ⚠
• p.Arg553Gln Multiple submitters Kufor-Rakeb syndrome ⚠
• p.Arg627His Multiple submitters Inborn genetic diseases ⚠
• p.Arg66Cys Multiple submitters autosomal recessive spastic paraplegia type 78 ⚠
• p.Arg74Trp Multiple submitters Kufor-Rakeb syndrome ⚠
• p.Arg76Gln Multiple submitters Kufor-Rakeb syndrome ⚠
• p.Arg924His Multiple submitters Inborn genetic diseases ⚠
• p.Arg980His Multiple submitters Kufor-Rakeb syndrome ⚠
• p.Arg991Gln Multiple submitters Inborn genetic diseases ⚠
• p.Asp144Val Multiple submitters autosomal recessive spastic paraplegia type 78 ⚠
• p.Asp254Gly Multiple submitters Inborn genetic diseases ⚠
• p.Asp592Asn Multiple submitters Kufor-Rakeb syndrome ⚠
• p.Asp672Gly Multiple submitters Inborn genetic diseases ⚠
• p.Asp817Glu Multiple submitters Inborn genetic diseases ⚠
• p.Asp967His Multiple submitters autosomal recessive spastic paraplegia type 78 ⚠
• p.Gln281Glu Multiple submitters Kufor-Rakeb syndrome ⚠
• p.Glu235Lys Multiple submitters Kufor-Rakeb syndrome ⚠
• p.Glu348Asp Multiple submitters Inborn genetic diseases ⚠
• p.Glu616Ala Multiple submitters Kufor-Rakeb syndrome ⚠
• p.Glu667Lys Multiple submitters autosomal recessive spastic paraplegia type 78 ⚠
• p.Glu790Lys Multiple submitters autosomal recessive spastic paraplegia type 78 ⚠
• p.Glu86Lys Multiple submitters Kufor-Rakeb syndrome ⚠
• p.Glu91Lys Multiple submitters autosomal recessive spastic paraplegia type 78 ⚠
• p.Gly1014Ser Multiple submitters Kufor-Rakeb syndrome ⚠
• p.Gly15Ala Multiple submitters Kufor-Rakeb syndrome ⚠
• p.Gly217Ser Multiple submitters autosomal recessive spastic paraplegia type 78 ⚠
• p.Gly39Ser Multiple submitters Inborn genetic diseases
• p.Gly49Val Multiple submitters Kufor-Rakeb syndrome ⚠
• p.Gly522Ser Multiple submitters autosomal recessive spastic paraplegia type 78 ⚠
• p.Gly582Ser Multiple submitters Kufor-Rakeb syndrome ⚠
• p.Gly596Ala Multiple submitters Kufor-Rakeb syndrome ⚠
• p.Gly827Arg Multiple submitters Inborn genetic diseases ⚠
• p.His390Pro Multiple submitters Inborn genetic diseases ⚠
• p.His413Gln Multiple submitters ⚠
• p.His626Tyr Multiple submitters Kufor-Rakeb syndrome ⚠
• p.Ile441Phe Multiple submitters Kufor-Rakeb syndrome ⚠
• p.Leu1059Phe Multiple submitters autosomal recessive spastic paraplegia type 78
• p.Leu1101Phe Multiple submitters autosomal recessive spastic paraplegia type 78 ⚠
• p.Leu1119Arg Multiple submitters autosomal recessive spastic paraplegia type 78 ⚠
• p.Leu754Val Multiple submitters Kufor-Rakeb syndrome ⚠
• p.Leu77Phe Multiple submitters Kufor-Rakeb syndrome ⚠
• p.Lys280Arg Multiple submitters Inborn genetic diseases ⚠
• p.Lys280Asn Multiple submitters Inborn genetic diseases ⚠
• p.Lys532_Leu539dup Multiple submitters autosomal recessive spastic paraplegia type 78
• p.Lys804= Multiple submitters Inborn genetic diseases
• p.Met210Lys Multiple submitters Kufor-Rakeb syndrome ⚠
• p.Met293Thr Multiple submitters Inborn genetic diseases ⚠
• p.Met339Ile Multiple submitters autosomal recessive spastic paraplegia type 78 ⚠
• p.Met615Val Multiple submitters autosomal recessive spastic paraplegia type 78 ⚠
• p.Met794Thr Multiple submitters autosomal recessive spastic paraplegia type 78 ⚠
• p.Phe945Leu Multiple submitters Inborn genetic diseases ⚠
• p.Pro314Ser Multiple submitters Kufor-Rakeb syndrome ⚠
• p.Pro474Ala Multiple submitters autosomal recessive spastic paraplegia type 78 ⚠
• p.Pro530Leu Multiple submitters autosomal recessive spastic paraplegia type 78 ⚠
• p.Pro550His Multiple submitters autosomal recessive spastic paraplegia type 78 ⚠
• p.Pro619Leu Multiple submitters autosomal recessive spastic paraplegia type 78 ⚠
• p.Pro730Leu Multiple submitters Kufor-Rakeb syndrome ⚠
• p.Pro842Arg Multiple submitters Kufor-Rakeb syndrome ⚠
• p.Pro993Leu Multiple submitters autosomal recessive spastic paraplegia type 78 ⚠
• p.Ser1055Thr Multiple submitters autosomal recessive spastic paraplegia type 78 ⚠
• p.Ser270Cys Multiple submitters Inborn genetic diseases ⚠
• p.Ser38Gly Multiple submitters Kufor-Rakeb syndrome ⚠
• p.Ser5Gly Multiple submitters Inborn genetic diseases ⚠
• p.Ser632= Multiple submitters Kufor-Rakeb syndrome
• p.Ser632Leu Multiple submitters Kufor-Rakeb syndrome ⚠
• p.Ser894Leu Multiple submitters Kufor-Rakeb syndrome ⚠
• p.Thr1023Ile Multiple submitters Kufor-Rakeb syndrome ⚠
• p.Thr20Met Multiple submitters Inborn genetic diseases ⚠
• p.Thr355Met Multiple submitters Kufor-Rakeb syndrome ⚠
• p.Thr368Ile Multiple submitters Inborn genetic diseases ⚠
• p.Thr481Met Multiple submitters autosomal recessive spastic paraplegia type 78 ⚠
• p.Thr515Met Multiple submitters Inborn genetic diseases ⚠
• p.Thr708Met Multiple submitters autosomal recessive spastic paraplegia type 78 ⚠
• p.Thr943Ile Multiple submitters Inborn genetic diseases ⚠
• p.Thr953Lys Multiple submitters Inborn genetic diseases ⚠
• p.Thr953Met Multiple submitters autosomal recessive spastic paraplegia type 78 ⚠
• p.Trp71Ser Multiple submitters autosomal recessive spastic paraplegia type 78 ⚠
• p.Tyr1020Cys Multiple submitters Inborn genetic diseases ⚠
• p.Tyr173Cys Multiple submitters Kufor-Rakeb syndrome ⚠
• p.Tyr241Cys Multiple submitters autosomal recessive spastic paraplegia type 78 ⚠
• p.Tyr386Cys Multiple submitters ATP13A2-related disorder ⚠
• p.Tyr386Phe Multiple submitters Kufor-Rakeb syndrome ⚠
• p.Val1015Met Multiple submitters Inborn genetic diseases ⚠
• p.Val1049Met Multiple submitters Kufor-Rakeb syndrome ⚠
• p.Val1093Leu Multiple submitters Kufor-Rakeb syndrome ⚠
• p.Val1137Met Multiple submitters Kufor-Rakeb syndrome ⚠
• p.Val220Met Multiple submitters autosomal recessive spastic paraplegia type 78 ⚠
• p.Val391Ile Multiple submitters autosomal recessive spastic paraplegia type 78 ⚠
• p.Val467Met Multiple submitters Kufor-Rakeb syndrome ⚠
• p.Val53Met Multiple submitters Inborn genetic diseases ⚠
• p.Val569Met Multiple submitters Kufor-Rakeb syndrome ⚠
• p.Val622Phe Multiple submitters Kufor-Rakeb syndrome ⚠
• p.Val653Ile Multiple submitters autosomal recessive spastic paraplegia type 78 ⚠
• p.Val814Met Multiple submitters Kufor-Rakeb syndrome ⚠
• p.Val89Ile Multiple submitters autosomal recessive spastic paraplegia type 78 ⚠
• p.Val933Ile Multiple submitters Inborn genetic diseases ⚠
• p.Val976Gly Multiple submitters Kufor-Rakeb syndrome ⚠
• p.Val9Met Multiple submitters autosomal recessive spastic paraplegia type 78 ⚠
• c.1040-6C>T Single submitter Kufor-Rakeb syndrome
• c.1306+3G>A Single submitter
• c.1353+20T>G Single submitter
• c.1353+5G>A Single submitter
• c.1542+13dup Single submitter Kufor-Rakeb syndrome
• c.1749+2T>G Single submitter Kufor-Rakeb syndrome
• c.1749+5G>C Single submitter autosomal recessive spastic paraplegia type 78
• c.1750-3C>T Single submitter Kufor-Rakeb syndrome
• c.2005+6G>A Single submitter
• c.2252-11_2252-4delinsTGTCTG Single submitter Inborn genetic diseases
• c.2252-12C>G Single submitter autosomal recessive spastic paraplegia type 78
• c.2252-3C>T Single submitter Inborn genetic diseases
• c.2530-3C>T Single submitter Inborn genetic diseases
• c.2859+5G>C Single submitter Kufor-Rakeb syndrome
• c.288+13C>G Single submitter autosomal recessive spastic paraplegia type 78
• c.289-3C>T Single submitter autosomal recessive spastic paraplegia type 78
• c.3083+5G>A Single submitter autosomal recessive spastic paraplegia type 78
• c.3083+6T>G Single submitter
• c.3084-10G>T Single submitter autosomal recessive spastic paraplegia type 78
• c.3084-7C>A Single submitter autosomal recessive spastic paraplegia type 78
• c.3235+14C>T Single submitter autosomal recessive spastic paraplegia type 78
• c.347+17_347+18delinsAT Single submitter autosomal recessive spastic paraplegia type 78
• c.706-3C>T Single submitter Kufor-Rakeb syndrome
• c.*109C>T Single submitter
• c.*138C>T Single submitter Inborn genetic diseases
• c.*145C>T Single submitter Inborn genetic diseases
• c.*151dup Single submitter
• c.*156G>A Single submitter
• c.*207C>T Single submitter
• c.*24C>T Single submitter Kufor-Rakeb syndrome
• c.*49A>G Single submitter
• c.*58A>G Single submitter Kufor-Rakeb syndrome
• c.*76C>T Single submitter
• c.*79C>T Single submitter
• p.Ala1062Ser Single submitter Kufor-Rakeb syndrome ⚠
• p.Ala1086= Single submitter Kufor-Rakeb syndrome
• p.Ala111Thr Single submitter Inborn genetic diseases ⚠
• p.Ala1176Gly Single submitter Inborn genetic diseases ⚠
• p.Ala125Glu Single submitter Kufor-Rakeb syndrome ⚠
• p.Ala132Val Single submitter autosomal recessive spastic paraplegia type 78 ⚠
• p.Ala332Thr Single submitter Kufor-Rakeb syndrome ⚠
• p.Ala335Ser Single submitter Inborn genetic diseases ⚠
• p.Ala3Thr Single submitter Inborn genetic diseases ⚠
• p.Ala436Thr Single submitter autosomal recessive spastic paraplegia type 78 ⚠
• p.Ala475Thr Single submitter Inborn genetic diseases ⚠
• p.Ala475Val Single submitter Inborn genetic diseases ⚠
• p.Ala476_Met477insAla Single submitter Kufor-Rakeb syndrome
• p.Ala591Val Single submitter Kufor-Rakeb syndrome ⚠
• p.Ala594Thr Single submitter autosomal recessive spastic paraplegia type 78 ⚠
• p.Ala651Thr Single submitter Kufor-Rakeb syndrome ⚠
• p.Ala682Val Single submitter autosomal recessive spastic paraplegia type 78 ⚠
• p.Ala757Val Single submitter autosomal recessive spastic paraplegia type 78 ⚠
• p.Ala761Ser Single submitter ⚠
• p.Ala768Asp Single submitter Inborn genetic diseases ⚠
• p.Ala768Ser Single submitter Kufor-Rakeb syndrome ⚠
• p.Ala778Gly Single submitter autosomal recessive spastic paraplegia type 78 ⚠
• p.Ala778Thr Single submitter autosomal recessive spastic paraplegia type 78 ⚠
• p.Ala799Ser Single submitter ⚠
• p.Ala810Val Single submitter autosomal recessive spastic paraplegia type 78 ⚠
• p.Ala880Thr Single submitter ⚠
• p.Arg1072His Single submitter autosomal recessive spastic paraplegia type 78
• p.Arg1073Trp Single submitter Inborn genetic diseases ⚠
• p.Arg1147Gly Single submitter ⚠
• p.Arg1147His Single submitter Kufor-Rakeb syndrome ⚠
• p.Arg1153Pro Single submitter Kufor-Rakeb syndrome ⚠
• p.Arg1158Ser Single submitter Kufor-Rakeb syndrome ⚠
• p.Arg129Gln Single submitter autosomal recessive spastic paraplegia type 78 ⚠
• p.Arg172Cys Single submitter Kufor-Rakeb syndrome ⚠
• p.Arg172His Single submitter Kufor-Rakeb syndrome ⚠
• p.Arg192Cys Single submitter Kufor-Rakeb syndrome ⚠
• p.Arg192His Single submitter Inborn genetic diseases ⚠
• p.Arg201His Single submitter Inborn genetic diseases ⚠
• p.Arg279Gly Single submitter Kufor-Rakeb syndrome
• p.Arg294Pro Single submitter Inborn genetic diseases ⚠
• p.Arg299Gln Single submitter Kufor-Rakeb syndrome ⚠
• p.Arg384Gly Single submitter ⚠
• p.Arg415= Single submitter autosomal recessive spastic paraplegia type 78
• p.Arg449Gly Single submitter ⚠
• p.Arg451= Single submitter Kufor-Rakeb syndrome
• p.Arg460Trp Single submitter ⚠
• p.Arg489Gln Single submitter autosomal recessive spastic paraplegia type 78 ⚠
• p.Arg489Leu Single submitter Kufor-Rakeb syndrome ⚠
• p.Arg500His Single submitter Inborn genetic diseases ⚠
• p.Arg545Cys Single submitter Kufor-Rakeb syndrome ⚠
• p.Arg636Cys Single submitter Inborn genetic diseases ⚠
• p.Arg636His Single submitter autosomal recessive spastic paraplegia type 78 ⚠
• p.Arg66Gly Single submitter autosomal recessive spastic paraplegia type 78 ⚠
• p.Arg686His Single submitter Inborn genetic diseases ⚠
• p.Arg740Gln Single submitter Inborn genetic diseases ⚠
• p.Arg740Gly Single submitter Kufor-Rakeb syndrome ⚠
• p.Arg743Cys Single submitter autosomal recessive spastic paraplegia type 78 ⚠
• p.Arg745Cys Single submitter Inborn genetic diseases ⚠
• p.Arg74Gln Single submitter Kufor-Rakeb syndrome ⚠
• p.Arg76Trp Single submitter Kufor-Rakeb syndrome ⚠
• p.Arg78= Single submitter
• p.Arg819Gln Single submitter Kufor-Rakeb syndrome ⚠
• p.Arg819Pro Single submitter Inborn genetic diseases ⚠
• p.Arg821Gly Single submitter Inborn genetic diseases ⚠
• p.Arg853Gly Single submitter Kufor-Rakeb syndrome ⚠
• p.Arg924Cys Single submitter Kufor-Rakeb syndrome ⚠
• p.Arg989Gln Single submitter Inborn genetic diseases ⚠
• p.Arg991Trp Single submitter Kufor-Rakeb syndrome
• p.Asn1044Ser Single submitter Inborn genetic diseases ⚠
• p.Asn1078Ser Single submitter Inborn genetic diseases ⚠
• p.Asn219Ser Single submitter Kufor-Rakeb syndrome ⚠
• p.Asn726Lys Single submitter autosomal recessive spastic paraplegia type 78 ⚠
• p.Asn955Ser Single submitter autosomal recessive spastic paraplegia type 78 ⚠
• p.Asp195Glu Single submitter Inborn genetic diseases ⚠
• p.Asp196Asn Single submitter Kufor-Rakeb syndrome ⚠
• p.Asp254Glu Single submitter Inborn genetic diseases ⚠
• p.Asp287Asn Single submitter Kufor-Rakeb syndrome ⚠
• p.Asp463His Single submitter Kufor-Rakeb syndrome ⚠
• p.Asp524Asn Single submitter autosomal recessive spastic paraplegia type 78 ⚠
• p.Asp566Asn Single submitter Kufor-Rakeb syndrome ⚠
• p.Asp574Asn Single submitter autosomal recessive spastic paraplegia type 78 ⚠
• p.Asp710Glu Single submitter Kufor-Rakeb syndrome ⚠
• p.Asp97His Single submitter Inborn genetic diseases ⚠
• p.Cys1141Phe Single submitter Kufor-Rakeb syndrome ⚠
• p.Cys1145Tyr Single submitter Kufor-Rakeb syndrome ⚠
• p.Cys262Phe Single submitter Inborn genetic diseases ⚠
• p.Cys272Trp Single submitter Kufor-Rakeb syndrome
• p.Cys365Arg Single submitter autosomal recessive spastic paraplegia type 78 ⚠
• p.Cys376Arg Single submitter Kufor-Rakeb syndrome ⚠
• p.Cys480Tyr Single submitter Inborn genetic diseases ⚠
• p.Cys864Phe Single submitter autosomal recessive spastic paraplegia type 78 ⚠
• p.Gln1161Lys Single submitter Inborn genetic diseases ⚠
• p.Gln382Arg Single submitter Kufor-Rakeb syndrome ⚠
• p.Gln611Glu Single submitter Inborn genetic diseases ⚠
• p.Gln611Lys Single submitter autosomal recessive spastic paraplegia type 78 ⚠
• p.Gln613Arg Single submitter Inborn genetic diseases ⚠
• p.Gln770Arg Single submitter Kufor-Rakeb syndrome ⚠
• p.Gln808Glu Single submitter Kufor-Rakeb syndrome ⚠
• p.Glu114Lys Single submitter autosomal recessive spastic paraplegia type 78 ⚠
• p.Glu1168Lys Single submitter autosomal recessive spastic paraplegia type 78 ⚠
• p.Glu118Lys Single submitter ⚠
• p.Glu177Lys Single submitter Kufor-Rakeb syndrome ⚠
• p.Glu304Gly Single submitter Inborn genetic diseases ⚠
• p.Glu359Lys Single submitter autosomal recessive spastic paraplegia type 78 ⚠
• p.Glu588Lys Single submitter autosomal recessive spastic paraplegia type 78 ⚠
• p.Glu667Gly Single submitter Inborn genetic diseases ⚠
• p.Glu815Gly Single submitter ⚠
• p.Glu865Gln Single submitter Kufor-Rakeb syndrome ⚠
• p.Glu865Gly Single submitter Inborn genetic diseases ⚠
• p.Glu86Asp Single submitter Kufor-Rakeb syndrome ⚠
• p.Glu914Asp Single submitter Inborn genetic diseases ⚠
• p.Glu922Asp Single submitter autosomal recessive spastic paraplegia type 78 ⚠
• p.Gly1014Arg Single submitter autosomal recessive spastic paraplegia type 78 ⚠
• p.Gly1014dup Single submitter Kufor-Rakeb syndrome
• p.Gly1018Ala Single submitter Inborn genetic diseases ⚠
• p.Gly1019Arg Single submitter ⚠