Sugi Variant

Sugi Variant/PNPLA6

PNPLA6 — 1502 ClinVar variants

All ClinVar germline PNPLA6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 502 flagged for review →

59 Pathogenic · 15 Pathogenic/Likely pathogenic · 50 Likely pathogenic · 96 Conflicting · 80 Benign · 30 Benign/Likely benign · 609 Likely benign · 563 Uncertain significance

Full PNPLA6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 502

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 11

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 31

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 356

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 356

Predictors split 104

The independent predictors disagree with each other — read with care.

All PNPLA6 variants

Pathogenic 59

  • c.316-2A>T Multiple submitters inherited retinal dystrophy
  • p.Arg1021fs Multiple submitters Autosomal recessive PNPLA6-related disorders
  • p.Arg1089Gln Multiple submitters hereditary spastic paraplegia 39
  • p.Gln697Ter Multiple submitters PNPLA6-related disorder
  • p.Leu405fs Multiple submitters Inborn genetic diseases
  • p.Ser673fs Multiple submitters hereditary spastic paraplegia 39
  • c.1362+1G>C Single submitter hereditary spastic paraplegia 39
  • c.2185-1G>T Single submitter hereditary spastic paraplegia 39
  • c.715-2A>C Single submitter hereditary spastic paraplegia 39
  • p.Ala15fs Single submitter spastic ataxia
  • p.Ala848fs Single submitter hereditary spastic paraplegia 39
  • p.Arg1017fs Single submitter hereditary spastic paraplegia 39
  • p.Arg1098Trp Single submitter hereditary spastic paraplegia 39
  • p.Arg1101fs Single submitter hereditary spastic paraplegia 39
  • p.Arg899Ter Single submitter hereditary spastic paraplegia 39
  • p.Arg949fs Single submitter hereditary spastic paraplegia 39
  • p.Asp1309fs Single submitter hereditary spastic paraplegia 39
  • p.Cys234fs Single submitter hereditary spastic paraplegia 39
  • p.Cys562fs Single submitter hereditary spastic paraplegia 39
  • p.Cys656Ter Single submitter hereditary spastic paraplegia 39
  • p.Gln271Ter Single submitter hereditary spastic paraplegia 39
  • p.Gln441Ter Single submitter hereditary spastic paraplegia 39
  • p.Gln458Ter Single submitter hereditary spastic paraplegia 39
  • p.Gln536Ter Single submitter hereditary spastic paraplegia 39
  • p.Gln574Ter Single submitter hereditary spastic paraplegia 39
  • p.Gln845Ter Single submitter hereditary spastic paraplegia 39
  • p.Glu153fs Single submitter
  • p.Gly1001fs Single submitter hereditary spastic paraplegia 39
  • p.Ile1069fs Single submitter Rod-cone dystrophy
  • p.Ile584fs Single submitter hereditary spastic paraplegia 39
  • p.Leu1284Ter Single submitter hereditary spastic paraplegia 39
  • p.Met1224fs Single submitter hereditary spastic paraplegia 39
  • p.Phe89fs Single submitter hereditary spastic paraplegia 39
  • p.Pro300Thr Single submitter hereditary spastic paraplegia 39
  • p.Pro486Thr Single submitter hereditary spastic paraplegia 39 ⚠
  • p.Ser1035Ter Single submitter hereditary spastic paraplegia 39
  • p.Ser1296fs Single submitter Kallmann syndrome
  • p.Ser411fs Single submitter hereditary spastic paraplegia 39
  • p.Ser477Ter Single submitter
  • p.Ser763fs Single submitter hereditary spastic paraplegia 39
  • p.Thr1048Ile Single submitter hereditary spastic paraplegia 39 ⚠
  • p.Thr803fs Single submitter hereditary spastic paraplegia 39
  • p.Trp1167Ter Single submitter hereditary spastic paraplegia 39
  • p.Trp1168Ter Single submitter hereditary spastic paraplegia 39
  • p.Trp638Ter Single submitter hereditary spastic paraplegia 39
  • p.Trp853Ter Single submitter PNPLA6-related disorder
  • p.Tyr1099Cys Single submitter hereditary spastic paraplegia 39
  • p.Tyr299Ter Single submitter hereditary spastic paraplegia 39
  • p.Tyr658Ter Single submitter hereditary spastic paraplegia 39
  • p.Tyr682Ter Single submitter hereditary spastic paraplegia 39
  • p.Tyr844Ter Single submitter
  • p.Val565fs Single submitter hereditary spastic paraplegia 39
  • c.2185-1G>C No assertion criteria ataxia-hypogonadism-choroidal dystrophy syndrome
  • p.Arg928His No assertion criteria hereditary spastic paraplegia 39 ⚠
  • p.Asp415fs No assertion criteria ataxia-hypogonadism-choroidal dystrophy syndrome
  • p.Gly569Trp No assertion criteria ataxia-hypogonadism-choroidal dystrophy syndrome
  • p.Gly717Arg No assertion criteria Laurence-Moon syndrome
  • p.Met1050Val No assertion criteria hereditary spastic paraplegia 39 ⚠
  • p.Phe1056Ser No assertion criteria ataxia-hypogonadism-choroidal dystrophy syndrome

Pathogenic/Likely pathogenic 15

  • p.Ala1102Thr Multiple submitters PNPLA6-related disorder
  • p.Arg1089Ter Multiple submitters PNPLA6-related disorder
  • p.Arg1137Cys Multiple submitters PNPLA6-related disorder ⚠
  • p.Arg1349Trp Multiple submitters PNPLA6-related disorder ⚠
  • p.Arg1351Ter Multiple submitters ataxia-hypogonadism-choroidal dystrophy syndrome
  • p.Arg934fs Multiple submitters hereditary spastic paraplegia 39
  • p.Gly1166Ser Multiple submitters inherited retinal dystrophy
  • p.Leu1121fs Multiple submitters hereditary spastic paraplegia 39
  • p.Leu1284fs Multiple submitters hereditary spastic paraplegia 39
  • p.Leu828fs Multiple submitters hereditary spastic paraplegia 39
  • p.Ser1035Leu Multiple submitters hereditary spastic paraplegia 39 ⚠
  • p.Ser932fs Multiple submitters PNPLA6-related disorder
  • p.Val1100Met Multiple submitters PNPLA6-related disorder
  • p.Val780fs Multiple submitters PNPLA6-related disorder
  • p.Gly830Glu No assertion criteria hereditary spastic paraplegia 39 ⚠

Likely pathogenic 50

  • c.2936+2T>C Multiple submitters PNPLA6-related disorder
  • c.315+1G>T Multiple submitters PNPLA6-related disorder
  • c.3816+1G>A Multiple submitters hereditary spastic paraplegia 39
  • p.Arg859Ter Multiple submitters PNPLA6-related disorder
  • c.1005+1G>T Single submitter hereditary spastic paraplegia 39
  • c.1168+1G>C Single submitter hereditary spastic paraplegia 39
  • c.1608+2T>C Single submitter hereditary spastic paraplegia 39
  • c.1814+3A>G Single submitter retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome
  • c.1946+2T>G Single submitter hereditary spastic paraplegia 39
  • c.2184+1G>A Single submitter hereditary spastic paraplegia 39
  • c.2184+1G>T Single submitter PNPLA6-related disorder
  • c.2184+2T>G Single submitter hereditary spastic paraplegia 39
  • c.2260+1G>C Single submitter hereditary spastic paraplegia 39
  • c.233-2A>G Single submitter hereditary spastic paraplegia 39
  • c.2934_2936+13del Single submitter hereditary spastic paraplegia 39
  • c.2936+2T>G Single submitter
  • c.3093+1G>A Single submitter hereditary spastic paraplegia 39
  • c.3913+1G>A Single submitter hereditary spastic paraplegia 39
  • c.413+1G>A Single submitter hereditary spastic paraplegia 39
  • c.714+1G>A Single submitter hereditary spastic paraplegia 39
  • c.715-1G>A Single submitter hereditary spastic paraplegia 39
  • p.Ala1285Val Single submitter ⚠
  • p.Arg1270Cys Single submitter hereditary spastic paraplegia 39 ⚠
  • p.Arg305Trp Single submitter hereditary spastic paraplegia 39
  • p.Asp560Tyr Single submitter hereditary spastic paraplegia 39
  • p.Asp998Gly Single submitter ataxia-hypogonadism-choroidal dystrophy syndrome
  • p.Gln205Ter Single submitter PNPLA6-related disorder
  • p.Gln209fs Single submitter PNPLA6-related disorder
  • p.Gln48Arg Single submitter hereditary spastic paraplegia 39 ⚠
  • p.Gln610Ter Single submitter hereditary spastic paraplegia 39
  • p.Gln746Pro Single submitter ataxia-hypogonadism-choroidal dystrophy syndrome ⚠
  • p.Glu570fs Single submitter PNPLA6-related disorder
  • p.Glu900fs Single submitter PNPLA6-related disorder
  • p.Gly1119Arg Single submitter hereditary spastic paraplegia 39
  • p.Gly210Asp Single submitter spastic ataxia
  • p.His1120Tyr Single submitter ataxia-hypogonadism-choroidal dystrophy syndrome ⚠
  • p.His795fs Single submitter PNPLA6-related disorder
  • p.Leu1072fs Single submitter PNPLA6-related disorder
  • p.Leu449fs Single submitter hereditary spastic paraplegia
  • p.Phe319fs Single submitter
  • p.Pro300Ala Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
  • p.Ser1138Cys Single submitter hereditary spastic paraplegia 39 ⚠
  • p.Ser1163Ile Single submitter inherited retinal dystrophy
  • p.Ser1165Cys Single submitter ⚠
  • p.Ser1329fs Single submitter hereditary spastic paraplegia 39
  • p.Ser448fs Single submitter PNPLA6-related disorder
  • p.Thr1295fs Single submitter
  • p.Val355fs Single submitter PNPLA6-related disorder
  • p.Val895fs Single submitter hereditary spastic paraplegia 39
  • p.Lys1031fs No assertion criteria hereditary spastic paraplegia 39

Conflicting classifications of pathogenicity 96

  • c.1253-14C>G Single submitter hereditary spastic paraplegia 39
  • c.1608+10_1608+18delinsGT Single submitter
  • c.1608+11C>T Single submitter hereditary spastic paraplegia 39
  • c.2185-15C>T Single submitter hereditary spastic paraplegia 39
  • c.2185-6C>T Single submitter Inborn genetic diseases
  • c.232+14G>A Single submitter hereditary spastic paraplegia 39
  • c.2402-11C>A Single submitter hereditary spastic paraplegia 39
  • c.2937-4G>A Single submitter hereditary spastic paraplegia 39
  • c.3094-6C>A Single submitter hereditary spastic paraplegia 39
  • c.315+13C>T Single submitter hereditary spastic paraplegia 39
  • c.3211-4G>A Single submitter hereditary spastic paraplegia 39
  • c.3281-4G>A Single submitter hereditary spastic paraplegia
  • c.3281-5C>G Single submitter hereditary spastic paraplegia 39
  • c.3397+11G>T Single submitter hereditary spastic paraplegia 39
  • c.3699+9G>A Single submitter hereditary spastic paraplegia 39
  • c.3914-11C>T Single submitter hereditary spastic paraplegia 39
  • c.3914-8G>A Single submitter hereditary spastic paraplegia 39
  • c.3916_3918delGAG Single submitter hereditary spastic paraplegia
  • c.4024-13C>T Single submitter hereditary spastic paraplegia 39
  • c.714+6T>G Single submitter hereditary spastic paraplegia 39
  • c.795+3G>A Single submitter hereditary spastic paraplegia 39
  • c.796-3C>T Single submitter hereditary spastic paraplegia 39
  • c.-43+3G>A Single submitter hereditary spastic paraplegia 39
  • p.Ala1133= Single submitter hereditary spastic paraplegia 39
  • p.Ala1136Thr Single submitter hereditary spastic paraplegia 39 ⚠
  • p.Ala1318= Single submitter hereditary spastic paraplegia 39
  • p.Ala453Thr Single submitter hereditary spastic paraplegia 39 ⚠
  • p.Ala618Val Single submitter ataxia-hypogonadism-choroidal dystrophy syndrome ⚠
  • p.Arg1173Gln Single submitter Rod-cone dystrophy
  • p.Arg1173Trp Single submitter retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome ⚠
  • p.Arg1269Cys Single submitter hereditary spastic paraplegia 39 ⚠
  • p.Arg1349Gln Single submitter PNPLA6-related disorder ⚠
  • p.Arg1352His Single submitter hereditary spastic paraplegia 39 ⚠
  • p.Arg645= Single submitter hereditary spastic paraplegia
  • p.Arg75= Single submitter hereditary spastic paraplegia 39
  • p.Asn1078= Single submitter hereditary spastic paraplegia 39
  • p.Asp1115Asn Single submitter hereditary spastic paraplegia 39 ⚠
  • p.Asp1272= Single submitter hereditary spastic paraplegia 39
  • p.Asp1304= Single submitter hereditary spastic paraplegia 39
  • p.Asp228= Single submitter hereditary spastic paraplegia 39
  • p.Asp560= Single submitter hereditary spastic paraplegia 39
  • p.Asp952His Single submitter hereditary spastic paraplegia 39 ⚠
  • p.Cys1211= Single submitter hereditary spastic paraplegia 39
  • p.Gln1238Glu Single submitter Inborn genetic diseases ⚠
  • p.Gln590= Single submitter hereditary spastic paraplegia 39
  • p.Gln728Lys Single submitter spastic ataxia ⚠
  • p.Gly1001= Single submitter hereditary spastic paraplegia 39
  • p.Gly1010Arg Single submitter spastic ataxia ⚠
  • p.Gly1125= Single submitter hereditary spastic paraplegia 39
  • p.Gly1150= Single submitter hereditary spastic paraplegia 39
  • p.Gly347Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly546= Single submitter hereditary spastic paraplegia
  • p.Gly57= Single submitter hereditary spastic paraplegia 39
  • p.Gly7Arg Single submitter ⚠
  • p.Gly974= Single submitter hereditary spastic paraplegia 39
  • p.Gly975Glu Single submitter hereditary spastic paraplegia 39 ⚠
  • p.Gly980Ala Single submitter hereditary spastic paraplegia 39 ⚠
  • p.His335= Single submitter hereditary spastic paraplegia 39
  • p.Ile102= Single submitter hereditary spastic paraplegia 39
  • p.Ile54= Single submitter hereditary spastic paraplegia 39
  • p.Leu1113= Single submitter hereditary spastic paraplegia 39
  • p.Leu1164= Single submitter hereditary spastic paraplegia 39
  • p.Leu207= Single submitter hereditary spastic paraplegia 39
  • p.Leu515Pro Single submitter hereditary spastic paraplegia 39 ⚠
  • p.Lys676= Single submitter hereditary spastic paraplegia 39
  • p.Phe427= Single submitter hereditary spastic paraplegia 39
  • p.Pro1112Leu Single submitter PNPLA6-related disorder ⚠
  • p.Pro1216Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro1294= Single submitter hereditary spastic paraplegia 39
  • p.Pro1330= Single submitter hereditary spastic paraplegia 39
  • p.Pro1330fs Single submitter hereditary spastic paraplegia 39
  • p.Pro1335Ser Single submitter hereditary spastic paraplegia 39 ⚠
  • p.Pro1358Leu Single submitter hereditary spastic paraplegia 39 ⚠
  • p.Pro1359= Single submitter hereditary spastic paraplegia
  • p.Pro216= Single submitter hereditary spastic paraplegia 39
  • p.Pro370Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro404= Single submitter hereditary spastic paraplegia 39
  • p.Pro44Leu Single submitter hereditary spastic paraplegia 39 ⚠
  • p.Pro44Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro486Leu Single submitter hereditary spastic paraplegia ⚠
  • p.Ser1165= Single submitter hereditary spastic paraplegia
  • p.Ser1209= Single submitter hereditary spastic paraplegia 39
  • p.Ser448Cys Single submitter hereditary spastic paraplegia 39 ⚠
  • p.Ser822= Single submitter Inborn genetic diseases
  • p.Thr1034Ala Single submitter hereditary spastic paraplegia 39 ⚠
  • p.Thr1084= Single submitter hereditary spastic paraplegia
  • p.Thr164= Single submitter hereditary spastic paraplegia
  • p.Thr350Ala Single submitter hereditary spastic paraplegia 39 ⚠
  • p.Trp1177Cys Single submitter PNPLA6-related disorder ⚠
  • p.Val1183= Single submitter hereditary spastic paraplegia 39
  • p.Val1205Ala Single submitter trichomegaly-retina pigmentary degeneration-dwarfism syndrome ⚠
  • p.Val410Ile Single submitter Inborn genetic diseases ⚠
  • p.Val62= Single submitter hereditary spastic paraplegia 39
  • p.Val759= Single submitter hereditary spastic paraplegia 39
  • p.Val787Met Single submitter hereditary spastic paraplegia ⚠
  • p.Val986= Single submitter hereditary spastic paraplegia 39

Benign 80

Benign/Likely benign 30

  • c.1005+14G>A Multiple submitters hereditary spastic paraplegia 39
  • c.1530+11G>A Multiple submitters hereditary spastic paraplegia 39
  • c.2817+17C>T Multiple submitters hereditary spastic paraplegia 39
  • c.2817+21del Multiple submitters hereditary spastic paraplegia 39
  • c.2818-4C>T Multiple submitters hereditary spastic paraplegia 39
  • c.2937-6C>T Multiple submitters Inborn genetic diseases
  • c.3094-5C>T Multiple submitters hereditary spastic paraplegia
  • c.316-18C>T Multiple submitters hereditary spastic paraplegia 39
  • c.3699+17G>A Multiple submitters hereditary spastic paraplegia 39
  • c.4024-11T>G Multiple submitters hereditary spastic paraplegia 39
  • c.414-18C>T Multiple submitters hereditary spastic paraplegia 39
  • c.925-12C>T Multiple submitters hereditary spastic paraplegia 39
  • c.-214C>T Multiple submitters hereditary spastic paraplegia 39
  • c.-96A>C Multiple submitters hereditary spastic paraplegia 39
  • c.*8G>A Multiple submitters hereditary spastic paraplegia 39
  • p.Gln1201= Multiple submitters hereditary spastic paraplegia
  • p.Gly1360Ser Multiple submitters hereditary spastic paraplegia
  • p.Gly466= Multiple submitters hereditary spastic paraplegia 39
  • p.Gly902= Multiple submitters hereditary spastic paraplegia 39
  • p.Gly904= Multiple submitters hereditary spastic paraplegia 39
  • p.His795= Multiple submitters hereditary spastic paraplegia 39
  • p.Ile495= Multiple submitters hereditary spastic paraplegia
  • p.Leu1354= Multiple submitters hereditary spastic paraplegia 39
  • p.Leu711= Multiple submitters hereditary spastic paraplegia
  • p.Leu805= Multiple submitters hereditary spastic paraplegia 39
  • p.Phe496= Multiple submitters hereditary spastic paraplegia 39
  • p.Pro401= Multiple submitters hereditary spastic paraplegia 39
  • p.Ser849= Multiple submitters hereditary spastic paraplegia
  • p.Val61= Multiple submitters hereditary spastic paraplegia 39
  • p.Val61Leu Multiple submitters hereditary spastic paraplegia 39

Likely benign 609

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

  • c.1252+20C>T Multiple submitters hereditary spastic paraplegia 39
  • c.1253-19C>G Multiple submitters hereditary spastic paraplegia 39
  • c.1530+10C>T Multiple submitters hereditary spastic paraplegia 39
  • c.1530+16G>T Multiple submitters hereditary spastic paraplegia 39
  • c.1531-14C>T Multiple submitters hereditary spastic paraplegia 39
  • c.1531-17C>T Multiple submitters hereditary spastic paraplegia 39
  • c.1608+11C>A Multiple submitters hereditary spastic paraplegia 39
  • c.1609-34G>T Multiple submitters
  • c.1609-6G>T Multiple submitters hereditary spastic paraplegia 39
  • c.1947-4T>A Multiple submitters hereditary spastic paraplegia 39
  • c.1947-7C>T Multiple submitters hereditary spastic paraplegia 39
  • c.2070+34T>C Multiple submitters
  • c.2260+10G>A Multiple submitters hereditary spastic paraplegia 39
  • c.2260+147G>A Multiple submitters
  • c.2260+93G>A Multiple submitters
  • c.232+16G>T Multiple submitters hereditary spastic paraplegia 39
  • c.233-76T>C Multiple submitters
  • c.2635-12C>T Multiple submitters hereditary spastic paraplegia 39
  • c.2817+14C>T Multiple submitters hereditary spastic paraplegia 39
  • c.2817+16G>A Multiple submitters hereditary spastic paraplegia 39
  • c.2818-20G>A Multiple submitters hereditary spastic paraplegia 39
  • c.2936+17C>T Multiple submitters hereditary spastic paraplegia 39
  • c.3093+11C>T Multiple submitters hereditary spastic paraplegia 39
  • c.3093+16A>C Multiple submitters hereditary spastic paraplegia 39
  • c.3093+17G>A Multiple submitters hereditary spastic paraplegia 39
  • c.3094-105C>T Multiple submitters
  • c.3094-14C>T Multiple submitters hereditary spastic paraplegia 39
  • c.3094-20G>A Multiple submitters hereditary spastic paraplegia 39
  • c.315+19G>C Multiple submitters hereditary spastic paraplegia 39
  • c.315+84G>A Multiple submitters
  • c.315+8C>T Multiple submitters hereditary spastic paraplegia 39
  • c.316-10_316-7dup Multiple submitters hereditary spastic paraplegia 39
  • c.316-17C>T Multiple submitters hereditary spastic paraplegia 39
  • c.3280+12C>T Multiple submitters hereditary spastic paraplegia 39
  • c.3281-5C>T Multiple submitters hereditary spastic paraplegia 39
  • c.3281-7C>T Multiple submitters hereditary spastic paraplegia 39
  • c.3397+14C>T Multiple submitters hereditary spastic paraplegia 39
  • c.3398-11del Multiple submitters hereditary spastic paraplegia 39
  • c.3398-15C>A Multiple submitters hereditary spastic paraplegia 39
  • c.3914-25C>T Multiple submitters
  • c.3914-9C>T Multiple submitters hereditary spastic paraplegia 39
  • c.4024-4G>A Multiple submitters hereditary spastic paraplegia 39
  • c.413+13T>G Multiple submitters hereditary spastic paraplegia 39
  • c.414-14T>A Multiple submitters hereditary spastic paraplegia 39
  • c.414-14T>C Multiple submitters hereditary spastic paraplegia 39
  • c.555-13G>A Multiple submitters hereditary spastic paraplegia 39
  • c.555-14C>G Multiple submitters hereditary spastic paraplegia 39
  • c.795+76A>T Multiple submitters
  • c.796-11C>T Multiple submitters hereditary spastic paraplegia 39
  • c.924+10C>A Multiple submitters hereditary spastic paraplegia 39
  • c.924+123G>C Multiple submitters
  • c.925-15C>T Multiple submitters hereditary spastic paraplegia 39
  • p.Ala278= Multiple submitters hereditary spastic paraplegia 39
  • p.Ala705= Multiple submitters hereditary spastic paraplegia 39
  • p.Ala951= Multiple submitters hereditary spastic paraplegia 39
  • p.Ala989= Multiple submitters hereditary spastic paraplegia 39
  • p.Arg1101= Multiple submitters hereditary spastic paraplegia 39
  • p.Arg316= Multiple submitters hereditary spastic paraplegia 39
  • p.Arg376= Multiple submitters hereditary spastic paraplegia 39
  • p.Asn183= Multiple submitters hereditary spastic paraplegia 39
  • p.Asp1317= Multiple submitters hereditary spastic paraplegia 39
  • p.Asp262= Multiple submitters hereditary spastic paraplegia 39
  • p.Asp537= Multiple submitters hereditary spastic paraplegia 39
  • p.Cys409= Multiple submitters hereditary spastic paraplegia 39
  • p.Cys918= Multiple submitters hereditary spastic paraplegia 39
  • p.Glu247= Multiple submitters hereditary spastic paraplegia 39
  • p.Gly569= Multiple submitters hereditary spastic paraplegia 39
  • p.His549= Multiple submitters hereditary spastic paraplegia 39
  • p.Ile1009= Multiple submitters hereditary spastic paraplegia 39
  • p.Ile1218= Multiple submitters hereditary spastic paraplegia 39
  • p.Ile841= Multiple submitters hereditary spastic paraplegia 39
  • p.Ile969= Multiple submitters hereditary spastic paraplegia 39
  • p.Ile984= Multiple submitters hereditary spastic paraplegia 39
  • p.Leu1074= Multiple submitters hereditary spastic paraplegia 39
  • p.Leu1170= Multiple submitters hereditary spastic paraplegia 39
  • p.Leu1202= Multiple submitters hereditary spastic paraplegia 39
  • p.Leu173= Multiple submitters hereditary spastic paraplegia 39
  • p.Leu303= Multiple submitters hereditary spastic paraplegia 39
  • p.Leu405= Multiple submitters hereditary spastic paraplegia 39
  • p.Leu583= Multiple submitters hereditary spastic paraplegia 39
  • p.Leu96= Multiple submitters hereditary spastic paraplegia 39
  • p.Lys1092= Multiple submitters hereditary spastic paraplegia 39
  • p.Phe190= Multiple submitters hereditary spastic paraplegia 39
  • p.Phe484= Multiple submitters hereditary spastic paraplegia 39
  • p.Phe542= Multiple submitters hereditary spastic paraplegia 39
  • p.Pro1112= Multiple submitters hereditary spastic paraplegia 39
  • p.Pro1216= Multiple submitters hereditary spastic paraplegia 39
  • p.Pro124= Multiple submitters hereditary spastic paraplegia 39
  • p.Pro1320= Multiple submitters hereditary spastic paraplegia 39
  • p.Pro236= Multiple submitters hereditary spastic paraplegia 39
  • p.Pro346= Multiple submitters hereditary spastic paraplegia 39
  • p.Pro384= Multiple submitters hereditary spastic paraplegia 39
  • p.Pro44= Multiple submitters hereditary spastic paraplegia 39
  • p.Pro464= Multiple submitters hereditary spastic paraplegia 39
  • p.Pro512= Multiple submitters hereditary spastic paraplegia 39
  • p.Pro568= Multiple submitters hereditary spastic paraplegia 39
  • p.Pro80= Multiple submitters hereditary spastic paraplegia 39
  • p.Pro996= Multiple submitters hereditary spastic paraplegia 39
  • p.Ser1107= Multiple submitters hereditary spastic paraplegia 39
  • p.Ser407= Multiple submitters hereditary spastic paraplegia 39
  • p.Ser425= Multiple submitters hereditary spastic paraplegia 39
  • p.Ser477= Multiple submitters hereditary spastic paraplegia 39
  • p.Ser667= Multiple submitters hereditary spastic paraplegia 39
  • p.Ser818= Multiple submitters hereditary spastic paraplegia 39
  • p.Ser919= Multiple submitters hereditary spastic paraplegia 39
  • p.Ser982= Multiple submitters hereditary spastic paraplegia 39
  • p.Ter1366= Multiple submitters hereditary spastic paraplegia 39
  • p.Thr1044= Multiple submitters hereditary spastic paraplegia 39
  • p.Thr1105= Multiple submitters hereditary spastic paraplegia 39
  • p.Thr1143= Multiple submitters hereditary spastic paraplegia 39
  • p.Thr1155= Multiple submitters hereditary spastic paraplegia 39
  • p.Thr273= Multiple submitters hereditary spastic paraplegia 39
  • p.Thr381= Multiple submitters hereditary spastic paraplegia 39
  • p.Thr63= Multiple submitters
  • p.Thr906= Multiple submitters hereditary spastic paraplegia 39
  • p.Tyr1195= Multiple submitters hereditary spastic paraplegia 39
  • p.Tyr1239= Multiple submitters hereditary spastic paraplegia 39
  • p.Tyr98= Multiple submitters hereditary spastic paraplegia 39
  • p.Val43= Multiple submitters hereditary spastic paraplegia 39
  • p.Val660= Multiple submitters hereditary spastic paraplegia 39
  • c.1005+13C>G Single submitter hereditary spastic paraplegia 39
  • c.1005+13C>T Single submitter hereditary spastic paraplegia 39
  • c.1005+14G>C Single submitter hereditary spastic paraplegia 39
  • c.1005+15G>A Single submitter hereditary spastic paraplegia 39
  • c.1005+17G>C Single submitter hereditary spastic paraplegia 39
  • c.1005+20C>A Single submitter hereditary spastic paraplegia 39
  • c.1005+8G>A Single submitter hereditary spastic paraplegia 39
  • c.1006-15G>A Single submitter hereditary spastic paraplegia 39
  • c.1006-15G>C Single submitter hereditary spastic paraplegia 39
  • c.1006-19A>G Single submitter hereditary spastic paraplegia 39
  • c.1006-20A>T Single submitter hereditary spastic paraplegia 39
  • c.1006-4C>G Single submitter hereditary spastic paraplegia 39
  • c.1006-7C>T Single submitter
  • c.1006-9T>C Single submitter hereditary spastic paraplegia 39
  • c.1168+10G>A Single submitter hereditary spastic paraplegia 39
  • c.1168+125C>T Single submitter
  • c.1168+14C>G Single submitter hereditary spastic paraplegia 39
  • c.1168+14C>T Single submitter hereditary spastic paraplegia 39
  • c.1168+20C>A Single submitter hereditary spastic paraplegia 39
  • c.1168+7A>C Single submitter hereditary spastic paraplegia 39
  • c.1168+8G>A Single submitter hereditary spastic paraplegia 39
  • c.1252+19G>T Single submitter hereditary spastic paraplegia 39
  • c.1252+8G>A Single submitter hereditary spastic paraplegia 39
  • c.1253-158T>C Single submitter
  • c.1253-15C>T Single submitter hereditary spastic paraplegia 39
  • c.1253-16C>T Single submitter hereditary spastic paraplegia 39
  • c.1253-18C>T Single submitter hereditary spastic paraplegia 39
  • c.1253-4G>T Single submitter hereditary spastic paraplegia 39
  • c.1253-9T>C Single submitter hereditary spastic paraplegia 39
  • c.1362+17T>A Single submitter hereditary spastic paraplegia 39
  • c.1363-10C>T Single submitter hereditary spastic paraplegia 39
  • c.1363-13C>G Single submitter hereditary spastic paraplegia 39
  • c.1363-14C>T Single submitter hereditary spastic paraplegia 39
  • c.1363-7C>G Single submitter hereditary spastic paraplegia 39
  • c.1531-10A>C Single submitter hereditary spastic paraplegia 39
  • c.1531-15C>A Single submitter hereditary spastic paraplegia 39
  • c.1531-17C>A Single submitter hereditary spastic paraplegia 39
  • c.1608+10_1608+15del Single submitter hereditary spastic paraplegia 39
  • c.1608+13_1608+19del Single submitter hereditary spastic paraplegia 39
  • c.1608+18C>G Single submitter hereditary spastic paraplegia 39
  • c.1608+18C>T Single submitter
  • c.1609-10G>T Single submitter hereditary spastic paraplegia 39
  • c.1609-13C>G Single submitter hereditary spastic paraplegia 39
  • c.1609-14C>T Single submitter hereditary spastic paraplegia 39
  • c.1609-4A>C Single submitter hereditary spastic paraplegia 39
  • c.1814+12C>G Single submitter hereditary spastic paraplegia 39
  • c.1814+12C>T Single submitter hereditary spastic paraplegia 39
  • c.1814+13G>T Single submitter hereditary spastic paraplegia 39
  • c.1814+9G>A Single submitter hereditary spastic paraplegia 39
  • c.1815-17C>G Single submitter hereditary spastic paraplegia 39
  • c.1815-19C>T Single submitter hereditary spastic paraplegia 39
  • c.1815-6C>A Single submitter hereditary spastic paraplegia 39
  • c.1815-6del Single submitter hereditary spastic paraplegia 39
  • c.1946+11C>T Single submitter hereditary spastic paraplegia 39
  • c.1946+12A>G Single submitter hereditary spastic paraplegia 39
  • c.1946+13C>T Single submitter hereditary spastic paraplegia 39
  • c.1946+16C>T Single submitter hereditary spastic paraplegia 39
  • c.1946+17G>A Single submitter hereditary spastic paraplegia 39
  • c.1946+19T>C Single submitter hereditary spastic paraplegia 39
  • c.1946+8T>C Single submitter hereditary spastic paraplegia 39
  • c.1947-10G>A Single submitter hereditary spastic paraplegia 39
  • c.1947-10G>T Single submitter hereditary spastic paraplegia 39
  • c.1947-13C>T Single submitter hereditary spastic paraplegia 39
  • c.1947-17C>T Single submitter hereditary spastic paraplegia 39
  • c.1947-6A>C Single submitter hereditary spastic paraplegia 39
  • c.1947-6A>G Single submitter hereditary spastic paraplegia 39
  • c.1947-9C>T Single submitter hereditary spastic paraplegia 39
  • c.2070+11C>T Single submitter hereditary spastic paraplegia 39
  • c.2070+7G>A Single submitter hereditary spastic paraplegia 39
  • c.2070+8C>G Single submitter hereditary spastic paraplegia 39
  • c.2070+9G>C Single submitter hereditary spastic paraplegia 39
  • c.2071-11C>G Single submitter hereditary spastic paraplegia 39
  • c.2071-12G>A Single submitter hereditary spastic paraplegia 39
  • c.2071-16G>A Single submitter hereditary spastic paraplegia 39
  • c.2071-3del Single submitter hereditary spastic paraplegia 39
  • c.2184+16G>A Single submitter hereditary spastic paraplegia 39
  • c.2184+20G>A Single submitter hereditary spastic paraplegia 39
  • c.2184+8C>T Single submitter hereditary spastic paraplegia 39
  • c.2185-19C>T Single submitter
  • c.2185-20C>G Single submitter hereditary spastic paraplegia 39
  • c.2185-7C>T Single submitter hereditary spastic paraplegia 39
  • c.2260+14G>A Single submitter hereditary spastic paraplegia 39
  • c.2260+15G>A Single submitter hereditary spastic paraplegia 39
  • c.2260+16C>T Single submitter hereditary spastic paraplegia 39
  • c.2260+18C>T Single submitter hereditary spastic paraplegia 39
  • c.2260+56T>C Single submitter
  • c.2260+9C>T Single submitter hereditary spastic paraplegia 39
  • c.2261-12G>C Single submitter hereditary spastic paraplegia 39
  • c.2261-47T>C Single submitter
  • c.2261-79A>G Single submitter
  • c.232+15G>A Single submitter hereditary spastic paraplegia 39
  • c.233-13C>G Single submitter hereditary spastic paraplegia 39
  • c.233-15C>T Single submitter hereditary spastic paraplegia 39
  • c.233-16C>T Single submitter hereditary spastic paraplegia 39
  • c.233-8A>G Single submitter hereditary spastic paraplegia 39
  • c.2401+10G>C Single submitter hereditary spastic paraplegia 39
  • c.2402-15C>A Single submitter hereditary spastic paraplegia 39
  • c.2402-4del Single submitter hereditary spastic paraplegia 39
  • c.2402-6C>T Single submitter hereditary spastic paraplegia 39
  • c.2465+11C>T Single submitter hereditary spastic paraplegia 39
  • c.2465+12A>C Single submitter hereditary spastic paraplegia 39
  • c.2465+19A>T Single submitter
  • c.2465+20G>T Single submitter hereditary spastic paraplegia 39
  • c.2466-14C>G Single submitter hereditary spastic paraplegia 39
  • c.2466-15C>G Single submitter hereditary spastic paraplegia 39
  • c.2466-17C>T Single submitter hereditary spastic paraplegia 39
  • c.2466-20C>G Single submitter hereditary spastic paraplegia 39
  • c.2466-5C>A Single submitter hereditary spastic paraplegia 39
  • c.2634+12G>A Single submitter hereditary spastic paraplegia 39
  • c.2634+20del Single submitter hereditary spastic paraplegia 39
  • c.2635-11G>A Single submitter hereditary spastic paraplegia 39
  • c.2635-11G>T Single submitter
  • c.2635-15G>A Single submitter hereditary spastic paraplegia 39
  • c.2635-15G>C Single submitter hereditary spastic paraplegia 39
  • c.2635-15G>T Single submitter hereditary spastic paraplegia 39
  • c.2635-16C>T Single submitter hereditary spastic paraplegia 39
  • c.2635-4G>A Single submitter hereditary spastic paraplegia 39
  • c.2817+13C>G Single submitter hereditary spastic paraplegia 39
  • c.2817+14C>G Single submitter hereditary spastic paraplegia 39
  • c.2817+15G>T Single submitter hereditary spastic paraplegia 39
  • c.2817+16del Single submitter hereditary spastic paraplegia 39
  • c.2817+19C>T Single submitter hereditary spastic paraplegia 39
  • c.2817+8G>A Single submitter hereditary spastic paraplegia 39
  • c.2818-12C>A Single submitter hereditary spastic paraplegia 39
  • c.2818-16A>C Single submitter hereditary spastic paraplegia 39
  • c.2818-20_2818-19delinsCG Single submitter hereditary spastic paraplegia 39
  • c.2818-8C>G Single submitter hereditary spastic paraplegia 39
  • c.2818-9C>G Single submitter hereditary spastic paraplegia 39
  • c.2936+10G>T Single submitter hereditary spastic paraplegia 39
  • c.2936+12G>A Single submitter hereditary spastic paraplegia 39
  • c.2936+14_2936+33del Single submitter hereditary spastic paraplegia 39
  • c.2936+16G>A Single submitter hereditary spastic paraplegia 39
  • c.2936+16G>C Single submitter hereditary spastic paraplegia 39
  • c.2936+19C>T Single submitter hereditary spastic paraplegia 39
  • c.2936+8C>T Single submitter hereditary spastic paraplegia 39
  • c.2936+9G>A Single submitter hereditary spastic paraplegia 39
  • c.2937-10T>C Single submitter
  • c.2937-13A>G Single submitter hereditary spastic paraplegia 39
  • c.2937-13A>T Single submitter hereditary spastic paraplegia 39
  • c.2937-15C>A Single submitter hereditary spastic paraplegia 39
  • c.2937-7C>T Single submitter hereditary spastic paraplegia 39
  • c.3093+11C>A Single submitter hereditary spastic paraplegia 39
  • c.3093+20A>G Single submitter hereditary spastic paraplegia 39
  • c.3094-11C>T Single submitter hereditary spastic paraplegia 39
  • c.3094-18C>A Single submitter
  • c.3094-18C>T Single submitter hereditary spastic paraplegia 39
  • c.3094-4C>T Single submitter hereditary spastic paraplegia 39
  • c.3094-9T>G Single submitter hereditary spastic paraplegia 39
  • c.315+12A>G Single submitter hereditary spastic paraplegia 39
  • c.315+13C>G Single submitter hereditary spastic paraplegia 39
  • c.315+15C>T Single submitter hereditary spastic paraplegia 39
  • c.315+16C>T Single submitter hereditary spastic paraplegia 39
  • c.315+19G>A Single submitter hereditary spastic paraplegia 39
  • c.316-12_316-11delinsAT Single submitter hereditary spastic paraplegia 39
  • c.316-14C>T Single submitter hereditary spastic paraplegia 39
  • c.316-16G>A Single submitter hereditary spastic paraplegia 39
  • c.3210+13C>T Single submitter hereditary spastic paraplegia 39
  • c.3210+16C>T Single submitter hereditary spastic paraplegia 39
  • c.3210+17C>T Single submitter hereditary spastic paraplegia 39
  • c.3210+19C>T Single submitter hereditary spastic paraplegia 39
  • c.3210+8C>T Single submitter hereditary spastic paraplegia 39
  • c.3211-11T>C Single submitter hereditary spastic paraplegia 39
  • c.3211-12del Single submitter hereditary spastic paraplegia 39
  • c.3211-14C>A Single submitter hereditary spastic paraplegia 39
  • c.3211-16A>T Single submitter hereditary spastic paraplegia 39
  • c.3211-17G>A Single submitter hereditary spastic paraplegia 39
  • c.3211-18C>A Single submitter hereditary spastic paraplegia 39
  • c.3211-18C>T Single submitter hereditary spastic paraplegia 39
  • c.3211-20C>T Single submitter hereditary spastic paraplegia 39
  • c.3211-4G>T Single submitter hereditary spastic paraplegia 39
  • c.3211-5C>T Single submitter hereditary spastic paraplegia 39
  • c.3280+129G>A Single submitter
  • c.3280+13G>A Single submitter hereditary spastic paraplegia 39
  • c.3281-4G>T Single submitter hereditary spastic paraplegia 39
  • c.3281-6G>A Single submitter hereditary spastic paraplegia 39
  • c.3397+11G>A Single submitter hereditary spastic paraplegia 39
  • c.3397+11G>C Single submitter hereditary spastic paraplegia 39
  • c.3397+14C>G Single submitter hereditary spastic paraplegia 39
  • c.3397+15G>A Single submitter hereditary spastic paraplegia 39
  • c.3398-19G>C Single submitter hereditary spastic paraplegia 39

Uncertain significance 563

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