ADGRB2 — 447 ClinVar variants
All ClinVar germline ADGRB2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 222 flagged for review →
1 Likely pathogenic · 3 Conflicting · 43 Benign · 125 Likely benign · 275 Uncertain significance
Full ADGRB2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 222
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 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
ADGRB2 p.Arg1465Trp
Likely pathogenic
No assertion criteria
Progressive spastic paraparesis
Predictors agree, ClinVar conflicts 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 169
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 169
- ADGRB2 p.Ala117Val Uncertain significance Multiple submitters
- ADGRB2 p.Ala1193Thr Uncertain significance Multiple submitters
- ADGRB2 p.Ala1193Val Uncertain significance Multiple submitters
- ADGRB2 p.Ala1411Val Uncertain significance Multiple submitters
- ADGRB2 p.Ala36Thr Uncertain significance Multiple submitters
- ADGRB2 p.Ala733Thr Uncertain significance Multiple submitters
- ADGRB2 p.Ala901Thr Uncertain significance Multiple submitters
- ADGRB2 p.Arg1441His Uncertain significance Multiple submitters
- ADGRB2 p.Arg1560Gln Uncertain significance Multiple submitters
- ADGRB2 p.Arg350Gln Uncertain significance Multiple submitters
- ADGRB2 p.Arg628Gln Uncertain significance Multiple submitters
- ADGRB2 p.Glu228Gly Uncertain significance Multiple submitters
- ADGRB2 p.His693Gln Uncertain significance Multiple submitters
- ADGRB2 p.Ile1026Thr Uncertain significance Multiple submitters
- ADGRB2 p.Pro287Ala Uncertain significance Multiple submitters
- ADGRB2 p.Pro430Leu Uncertain significance Multiple submitters
- ADGRB2 p.Pro920Leu Uncertain significance Multiple submitters
- ADGRB2 p.Ser1536Phe Uncertain significance Multiple submitters
- ADGRB2 p.Thr1059Met Uncertain significance Multiple submitters
- ADGRB2 p.Thr324Met Uncertain significance Multiple submitters
- ADGRB2 p.Thr4Ile Uncertain significance Multiple submitters
- ADGRB2 p.Val1098Ile Uncertain significance Multiple submitters
- ADGRB2 p.Val937Leu Uncertain significance Multiple submitters
- ADGRB2 p.Ala1051Thr Uncertain significance Single submitter
- ADGRB2 p.Ala1125Pro Uncertain significance Single submitter
- ADGRB2 p.Ala1136Val Uncertain significance Single submitter
- ADGRB2 p.Ala1150Thr Uncertain significance Single submitter
- ADGRB2 p.Ala136Thr Uncertain significance Single submitter
- ADGRB2 p.Ala136Val Uncertain significance Single submitter
- ADGRB2 p.Ala1386Gly Uncertain significance Single submitter
- ADGRB2 p.Ala1432Thr Uncertain significance Single submitter
- ADGRB2 p.Ala174Val Uncertain significance Single submitter
- ADGRB2 p.Ala179Val Uncertain significance Single submitter
- ADGRB2 p.Ala219Val Uncertain significance Single submitter
- ADGRB2 p.Ala229Val Uncertain significance Single submitter
- ADGRB2 p.Ala305Ser Uncertain significance Single submitter
- ADGRB2 p.Ala32Thr Uncertain significance Single submitter
- ADGRB2 p.Ala400Thr Uncertain significance Single submitter
- ADGRB2 p.Ala436Val Uncertain significance Single submitter
- ADGRB2 p.Ala449Val Uncertain significance Single submitter
- ADGRB2 p.Ala675Val Uncertain significance Single submitter
- ADGRB2 p.Ala779Ser Uncertain significance Single submitter
- ADGRB2 p.Ala882Val Uncertain significance Single submitter
- ADGRB2 p.Ala918Thr Uncertain significance Single submitter
- ADGRB2 p.Ala952Thr Uncertain significance Single submitter
- ADGRB2 p.Arg1105His Uncertain significance Single submitter
- ADGRB2 p.Arg111Trp Uncertain significance Single submitter
- ADGRB2 p.Arg1207Gln Uncertain significance Single submitter
- ADGRB2 p.Arg1221Gln Uncertain significance Single submitter
- ADGRB2 p.Arg1273His Uncertain significance Single submitter
- ADGRB2 p.Arg127Trp Uncertain significance Single submitter
- ADGRB2 p.Arg1341Gln Uncertain significance Single submitter
- ADGRB2 p.Arg1356Gln Uncertain significance Single submitter
- ADGRB2 p.Arg1377Trp Uncertain significance Single submitter
- ADGRB2 p.Arg1433Cys Uncertain significance Single submitter
- ADGRB2 p.Arg1497His Uncertain significance Single submitter
- ADGRB2 p.Arg1499Cys Uncertain significance Single submitter
- ADGRB2 p.Arg1520Gln Uncertain significance Single submitter
- ADGRB2 p.Arg1532His Uncertain significance Single submitter
- ADGRB2 p.Arg1540His Uncertain significance Single submitter
- ADGRB2 p.Arg1562Gln Uncertain significance Single submitter
- ADGRB2 p.Arg1567Trp Uncertain significance Single submitter
- ADGRB2 p.Arg181His Uncertain significance Single submitter
- ADGRB2 p.Arg203His Uncertain significance Single submitter
- ADGRB2 p.Arg28Ser Uncertain significance Single submitter
- ADGRB2 p.Arg334Ser Uncertain significance Single submitter
- ADGRB2 p.Arg382Gln Uncertain significance Single submitter
- ADGRB2 p.Arg535Gly Uncertain significance Single submitter
- ADGRB2 p.Arg620Cys Uncertain significance Single submitter
- ADGRB2 p.Arg629His Uncertain significance Single submitter
- ADGRB2 p.Arg664His Uncertain significance Single submitter
- ADGRB2 p.Arg696His Uncertain significance Single submitter
- ADGRB2 p.Arg802His Uncertain significance Single submitter
- ADGRB2 p.Arg840Gln Uncertain significance Single submitter
- ADGRB2 p.Arg905His Uncertain significance Single submitter
- ADGRB2 p.Arg989Trp Uncertain significance Single submitter
- ADGRB2 p.Asn867Ser Uncertain significance Single submitter
- ADGRB2 p.Asp707Asn Uncertain significance Single submitter
- ADGRB2 p.Cys1122Tyr Uncertain significance Single submitter
- ADGRB2 p.Cys940Tyr Uncertain significance Single submitter
- ADGRB2 p.Gln1236Lys Uncertain significance Single submitter
- ADGRB2 p.Gln395Glu Uncertain significance Single submitter
- ADGRB2 p.Gln395Lys Uncertain significance Single submitter
- ADGRB2 p.Gln851His Uncertain significance Single submitter
- ADGRB2 p.Glu115Asp Uncertain significance Single submitter
- ADGRB2 p.Glu115Lys Uncertain significance Single submitter
- ADGRB2 p.Glu1226Gln Uncertain significance Single submitter
- ADGRB2 p.Glu1226Lys Uncertain significance Single submitter
- ADGRB2 p.Glu122Gly Uncertain significance Single submitter
- ADGRB2 p.Glu1329Val Uncertain significance Single submitter
- ADGRB2 p.Glu1519Lys Uncertain significance Single submitter
- ADGRB2 p.Glu1575Gly Uncertain significance Single submitter
- ADGRB2 p.Glu184Lys Uncertain significance Single submitter
- ADGRB2 p.Glu206Asp Uncertain significance Single submitter
- ADGRB2 p.Glu314Gly Uncertain significance Single submitter
- ADGRB2 p.Glu470Lys Uncertain significance Single submitter
- ADGRB2 p.Gly1346Cys Uncertain significance Single submitter
- ADGRB2 p.Gly1369Ser Uncertain significance Single submitter
- ADGRB2 p.Gly213Ser Uncertain significance Single submitter
- ADGRB2 p.Gly254Arg Uncertain significance Single submitter
- ADGRB2 p.Gly328Ser Uncertain significance Single submitter
- ADGRB2 p.Gly516Arg Uncertain significance Single submitter
- ADGRB2 p.His1004Arg Uncertain significance Single submitter
- ADGRB2 p.His11Arg Uncertain significance Single submitter
- ADGRB2 p.His1538Arg Uncertain significance Single submitter
- ADGRB2 p.Ile1094Val Uncertain significance Single submitter
- ADGRB2 p.Ile1198Val Uncertain significance Single submitter
- ADGRB2 p.Ile188Val Uncertain significance Single submitter
- ADGRB2 p.Ile865Met Uncertain significance Single submitter
- ADGRB2 p.Leu1173Pro Uncertain significance Single submitter
- ADGRB2 p.Leu302Ile Uncertain significance Single submitter
- ADGRB2 p.Leu803Arg Uncertain significance Single submitter
- ADGRB2 p.Lys1114Arg Uncertain significance Single submitter
- ADGRB2 p.Lys288Gln Uncertain significance Single submitter
- ADGRB2 p.Met304Val Uncertain significance Single submitter
- ADGRB2 p.Met672Leu Uncertain significance Single submitter
- ADGRB2 p.Phe1190Ser Uncertain significance Single submitter
- ADGRB2 p.Pro1289Ser Uncertain significance Single submitter
- ADGRB2 p.Pro1318Gln Uncertain significance Single submitter
- ADGRB2 p.Pro1378Leu Uncertain significance Single submitter
- ADGRB2 p.Pro1427Gln Uncertain significance Single submitter
- ADGRB2 p.Pro1427Leu Uncertain significance Single submitter
- ADGRB2 p.Pro1430Ser Uncertain significance Single submitter
- ADGRB2 p.Pro147Ala Uncertain significance Single submitter
- ADGRB2 p.Pro1557Ala Uncertain significance Single submitter
- ADGRB2 p.Pro18Leu Uncertain significance Single submitter
- ADGRB2 p.Pro226His Uncertain significance Single submitter
- ADGRB2 p.Pro283Leu Uncertain significance Single submitter
- ADGRB2 p.Pro287Leu Uncertain significance Single submitter
- ADGRB2 p.Pro317Leu Uncertain significance Single submitter
- ADGRB2 p.Pro354Ser Uncertain significance Single submitter
- ADGRB2 p.Pro451Ser Uncertain significance Single submitter
- ADGRB2 p.Pro559Leu Uncertain significance Single submitter
- ADGRB2 p.Ser1009Ala Uncertain significance Single submitter
- ADGRB2 p.Ser1146Leu Uncertain significance Single submitter
- ADGRB2 p.Ser1404Leu Uncertain significance Single submitter
- ADGRB2 p.Ser1414Phe Uncertain significance Single submitter
- ADGRB2 p.Ser143Asn Uncertain significance Single submitter
- ADGRB2 p.Ser1521Thr Uncertain significance Single submitter
- ADGRB2 p.Ser163Leu Uncertain significance Single submitter
- ADGRB2 p.Ser374Asn Uncertain significance Single submitter
- ADGRB2 p.Ser63Leu Uncertain significance Single submitter
- ADGRB2 p.Ser755Thr Uncertain significance Single submitter
- ADGRB2 p.Ser767Asn Uncertain significance Single submitter
- ADGRB2 p.Ser931Phe Uncertain significance Single submitter
- ADGRB2 p.Thr1381Pro Uncertain significance Single submitter
- ADGRB2 p.Thr1392Asn Uncertain significance Single submitter
- ADGRB2 p.Thr1524Ile Uncertain significance Single submitter
- ADGRB2 p.Thr236Ser Uncertain significance Single submitter
- ADGRB2 p.Thr433Met Uncertain significance Single submitter
Predictors split 49
The independent predictors disagree with each other — read with care.
- ADGRB2 p.Arg1105Cys Uncertain significance Multiple submitters
- ADGRB2 p.Arg1465Gln Uncertain significance Multiple submitters
- ADGRB2 p.Ser338Pro Uncertain significance Multiple submitters
- ADGRB2 p.Ala311Val Benign Single submitter
- ADGRB2 p.Arg1030Cys Uncertain significance Single submitter
- ADGRB2 p.Arg1206His Uncertain significance Single submitter
- ADGRB2 p.Arg1273Cys Uncertain significance Single submitter
- ADGRB2 p.Arg1443Trp Uncertain significance Single submitter
- ADGRB2 p.Arg1478Trp Uncertain significance Single submitter
- ADGRB2 p.Arg1480Gln Uncertain significance Single submitter
- ADGRB2 p.Arg1480Trp Uncertain significance Single submitter
- ADGRB2 p.Arg1497Leu Uncertain significance Single submitter
- ADGRB2 p.Arg1539Trp Uncertain significance Single submitter
- ADGRB2 p.Arg181Cys Uncertain significance Single submitter
- ADGRB2 p.Arg628Trp Uncertain significance Single submitter
- ADGRB2 p.Arg664Cys Uncertain significance Single submitter
- ADGRB2 p.Arg728Gln Uncertain significance Single submitter
- ADGRB2 p.Arg746Trp Uncertain significance Single submitter
- ADGRB2 p.Arg802Cys Uncertain significance Single submitter
- ADGRB2 p.Asn1263Lys Uncertain significance Single submitter
- ADGRB2 p.Asp1110Asn Uncertain significance Single submitter
- ADGRB2 p.Asp1496Tyr Uncertain significance Single submitter
- ADGRB2 p.Gln727His Uncertain significance Single submitter
- ADGRB2 p.Gly46Asp Uncertain significance Single submitter
- ADGRB2 p.Gly744Ser Uncertain significance Single submitter
- ADGRB2 p.Gly868Ala Likely benign Single submitter
- ADGRB2 p.Ile816Met Uncertain significance Single submitter
- ADGRB2 p.Leu1039Ile Uncertain significance Single submitter
- ADGRB2 p.Leu947Val Uncertain significance Single submitter
- ADGRB2 p.Lys763Glu Uncertain significance Single submitter
- ADGRB2 p.Met1103Ile Uncertain significance Single submitter
- ADGRB2 p.Met742Ile Uncertain significance Single submitter
- ADGRB2 p.Met742Thr Uncertain significance Single submitter
- ADGRB2 p.Met748Thr Uncertain significance Single submitter
- ADGRB2 p.Phe1243Val Uncertain significance Single submitter
- ADGRB2 p.Pro310Leu Uncertain significance Single submitter
- ADGRB2 p.Pro340Arg Uncertain significance Single submitter
- ADGRB2 p.Pro340His Uncertain significance Single submitter
- ADGRB2 p.Pro340Leu Uncertain significance Single submitter
- ADGRB2 p.Ser1543Arg Uncertain significance Single submitter
- ADGRB2 p.Ser1543Cys Uncertain significance Single submitter
- ADGRB2 p.Ser372Phe Uncertain significance Single submitter
- ADGRB2 p.Ser372Tyr Uncertain significance Single submitter
- ADGRB2 p.Ser412Arg Uncertain significance Single submitter
- ADGRB2 p.Ser715Phe Uncertain significance Single submitter
- ADGRB2 p.Thr149Pro Uncertain significance Single submitter
- ADGRB2 p.Val1159Ala Uncertain significance Single submitter
- ADGRB2 p.Val158Met Uncertain significance Single submitter
- ADGRB2 p.Val705Ala Uncertain significance Single submitter
All ADGRB2 variants
Likely pathogenic 1
- p.Arg1465Trp No assertion criteria Progressive spastic paraparesis ⚠
Conflicting classifications of pathogenicity 3
- p.Ala91Thr Single submitter ⚠
- p.Arg1520Trp Single submitter ⚠
- p.Gly1365Ser Single submitter ⚠
Benign 43
- c.1418-13A>C Multiple submitters
- c.2168-18A>C Multiple submitters
- c.3353+11G>C Multiple submitters
- c.4515+10C>T Multiple submitters
- p.Ala1517= Multiple submitters
- p.Ala1518= Multiple submitters
- p.Arg1221= Multiple submitters
- p.Arg1532Cys Multiple submitters
- p.Glu1371Asp Multiple submitters
- p.His873= Multiple submitters
- p.Leu1298= Multiple submitters
- p.Leu1399= Multiple submitters
- p.Pro1378= Multiple submitters
- p.Pro1425= Multiple submitters
- p.Pro1577Leu Multiple submitters
- p.Pro175= Multiple submitters
- p.Thr1503Met Multiple submitters
- c.2602-8C>T Single submitter
- c.2646-14C>T Single submitter
- c.2877-12G>A Single submitter
- c.3201-8C>G Single submitter
- c.3267+11G>A Single submitter
- c.3353+12del Single submitter
- c.3353+12dup Single submitter
- c.3353+12G>A Single submitter
- c.3760+11C>T Single submitter
- c.4416+11TG[3] Single submitter
- c.4516-17G>A Single submitter
- p.Ala1117= Single submitter
- p.Ala121= Single submitter
- p.Ala311Val Single submitter ⚠
- p.Ala836= Single submitter
- p.Asn1234= Single submitter
- p.Glu1572= Single submitter
- p.Glu613= Single submitter
- p.Gly1074= Single submitter
- p.Gly138= Single submitter
- p.Met742Leu Single submitter
- p.Pro294= Single submitter
- p.Pro853Leu Single submitter
- p.Thr324= Single submitter
- p.Thr791= Single submitter
- p.Val697= Single submitter
Likely benign 125
- p.Gly550= Multiple submitters
- p.Val1086Ile Multiple submitters
- c.1087+12C>T Single submitter
- c.1088-16A>T Single submitter
- c.1253-19C>T Single submitter
- c.1585+13T>C Single submitter
- c.1586-11T>C Single submitter
- c.1586-14C>T Single submitter
- c.1688-15C>T Single submitter
- c.1688-7C>T Single submitter
- c.1989+17A>G Single submitter
- c.1989+7C>T Single submitter
- c.1990-19C>T Single submitter
- c.1990-20A>G Single submitter
- c.21+20T>C Single submitter
- c.2167+13A>C Single submitter
- c.2168-13C>T Single submitter
- c.2168-15C>G Single submitter
- c.22-4A>G Single submitter
- c.2602-6C>T Single submitter
- c.2645+12G>A Single submitter
- c.2646-9C>T Single submitter
- c.2877-18C>T Single submitter
- c.2877-6C>T Single submitter
- c.2980-17A>G Single submitter
- c.3131-16A>G Single submitter
- c.3268-14T>A Single submitter
- c.3268-20C>T Single submitter
- c.3353+10G>A Single submitter
- c.3353+18G>C Single submitter
- c.3624+20G>A Single submitter
- c.3625-12C>T Single submitter
- c.3720+12G>A Single submitter
- c.3760+9G>A Single submitter
- c.3761-19C>G Single submitter
- c.4416+10A>G Single submitter
- c.4417-6C>T Single submitter
- c.4515+16G>A Single submitter
- c.4515+7G>C Single submitter
- c.4573-12C>T Single submitter
- c.4573-13G>A Single submitter
- c.4702G>A Single submitter
- c.839-17C>T Single submitter
- c.922+13C>T Single submitter
- p.Ala1000= Single submitter
- p.Ala1051= Single submitter
- p.Ala1085= Single submitter
- p.Ala117= Single submitter
- p.Ala1171= Single submitter
- p.Ala119= Single submitter
- p.Ala135= Single submitter
- p.Ala137= Single submitter
- p.Ala231= Single submitter
- p.Ala30= Single submitter
- p.Ala400= Single submitter
- p.Ala483= Single submitter
- p.Ala675= Single submitter
- p.Ala91= Single submitter
- p.Ala929= Single submitter
- p.Ala946= Single submitter
- p.Arg1506= Single submitter
- p.Arg214= Single submitter
- p.Arg629= Single submitter
- p.Cys1262= Single submitter
- p.Cys380= Single submitter
- p.Cys512= Single submitter
- p.Glu132= Single submitter
- p.Glu1379= Single submitter
- p.Glu1487= Single submitter
- p.Glu282= Single submitter
- p.Glu861= Single submitter
- p.Gly1235= Single submitter
- p.Gly1364= Single submitter
- p.Gly1579Ser Single submitter
- p.Gly209= Single submitter
- p.Gly347= Single submitter
- p.Gly371= Single submitter
- p.Gly397= Single submitter
- p.Gly458= Single submitter
- p.Gly778= Single submitter
- p.Gly868Ala Single submitter ⚠
- p.Gly994= Single submitter
- p.His364= Single submitter
- p.Leu1045= Single submitter
- p.Leu1166= Single submitter
- p.Leu1286= Single submitter
- p.Leu139= Single submitter
- p.Leu768Val Single submitter
- p.Leu950= Single submitter
- p.Leu951= Single submitter
- p.Pro114= Single submitter
- p.Pro1264= Single submitter
- p.Pro1427= Single submitter
- p.Pro1450= Single submitter
- p.Pro1557= Single submitter
- p.Pro1577= Single submitter
- p.Pro170Leu Single submitter
- p.Pro258Ser Single submitter
- p.Pro340= Single submitter
- p.Pro393= Single submitter
- p.Pro480= Single submitter
- p.Pro657= Single submitter
- p.Pro793Ser Single submitter
- p.Pro920= Single submitter
- p.Ser1192= Single submitter
- p.Ser1514= Single submitter
- p.Ser1514Leu Single submitter
- p.Ser1521= Single submitter
- p.Ser1534Gly Single submitter
- p.Ser266= Single submitter
- p.Ser346= Single submitter
- p.Ser447= Single submitter
- p.Ser658= Single submitter
- p.Thr1448= Single submitter
- p.Thr31= Single submitter
- p.Thr31Ala Single submitter
- p.Thr490= Single submitter
- p.Thr507= Single submitter
- p.Thr543= Single submitter
- p.Thr870= Single submitter
- p.Tyr655= Single submitter
- p.Val183= Single submitter
- p.Val366= Single submitter
- p.Val392= Single submitter
- p.Val656= Single submitter
Uncertain significance 275
- p.Ala117Val Multiple submitters ⚠
- p.Ala1193Thr Multiple submitters ⚠
- p.Ala1193Val Multiple submitters ⚠
- p.Ala1411Val Multiple submitters ⚠
- p.Ala36Thr Multiple submitters ⚠
- p.Ala733Thr Multiple submitters ⚠
- p.Ala901Thr Multiple submitters ⚠
- p.Arg1105Cys Multiple submitters ⚠
- p.Arg1441His Multiple submitters ⚠
- p.Arg1465Gln Multiple submitters ⚠
- p.Arg1560Gln Multiple submitters ⚠
- p.Arg350Gln Multiple submitters ⚠
- p.Arg628Gln Multiple submitters ⚠
- p.Glu228Gly Multiple submitters ⚠
- p.His693Gln Multiple submitters ⚠
- p.Ile1026Thr Multiple submitters ⚠
- p.Pro287Ala Multiple submitters ⚠
- p.Pro430Leu Multiple submitters ⚠
- p.Pro920Leu Multiple submitters ⚠
- p.Ser1536Phe Multiple submitters ⚠
- p.Ser338Pro Multiple submitters ⚠
- p.Thr1059Met Multiple submitters ⚠
- p.Thr324Met Multiple submitters ⚠
- p.Thr4Ile Multiple submitters ⚠
- p.Val1098Ile Multiple submitters ⚠
- p.Val937Leu Multiple submitters ⚠
- c.1048C>T Single submitter
- c.1160G>A Single submitter
- c.1187A>G Single submitter
- c.1192G>A Single submitter
- c.1250C>T Single submitter
- c.1280C>T Single submitter
- c.1403A>C Single submitter
- c.1415C>T Single submitter
- c.1672C>G Single submitter
- c.1718C>T Single submitter
- c.202A>G Single submitter
- c.2051C>T Single submitter
- c.2309C>T Single submitter
- c.2437T>A Single submitter
- c.2560G>C Single submitter
- c.2609C>T Single submitter
- c.278T>G Single submitter
- c.2821G>A Single submitter
- c.2953G>T Single submitter
- c.3064T>C Single submitter
- c.3131-2A>C Single submitter
- c.3193T>C Single submitter
- c.3303G>T Single submitter
- c.3353+6G>A Single submitter
- c.3353+6G>C Single submitter
- c.3607T>C Single submitter
- c.3616C>T Single submitter
- c.3625G>T Single submitter
- c.3634G>A Single submitter
- c.3661C>T Single submitter
- c.3803C>T Single submitter
- c.3829G>A Single submitter
- c.4064C>A Single submitter
- c.4070G>A Single submitter
- c.4175C>T Single submitter
- c.4205A>C Single submitter
- c.4298G>A Single submitter
- c.4345G>T Single submitter
- c.4486G>A Single submitter
- c.4526G>T Single submitter
- c.4564G>A Single submitter
- c.4564G>C Single submitter
- c.4572+1G>A Single submitter
- c.4598C>T Single submitter
- c.583C>A Single submitter
- c.838+2T>G Single submitter
- c.931G>A Single submitter
- c.985C>G Single submitter
- p.Ala1051Thr Single submitter ⚠
- p.Ala1125Pro Single submitter ⚠
- p.Ala1136Val Single submitter ⚠
- p.Ala1150Thr Single submitter ⚠
- p.Ala136Thr Single submitter ⚠
- p.Ala136Val Single submitter ⚠
- p.Ala1386Gly Single submitter ⚠
- p.Ala1432Thr Single submitter ⚠
- p.Ala174Val Single submitter ⚠
- p.Ala179Val Single submitter ⚠
- p.Ala219Val Single submitter ⚠
- p.Ala229Val Single submitter ⚠
- p.Ala305Ser Single submitter ⚠
- p.Ala32Thr Single submitter ⚠
- p.Ala400Thr Single submitter ⚠
- p.Ala436Val Single submitter ⚠
- p.Ala449Val Single submitter ⚠
- p.Ala675Val Single submitter ⚠
- p.Ala779Ser Single submitter ⚠
- p.Ala882Val Single submitter ⚠
- p.Ala918Thr Single submitter ⚠
- p.Ala952Thr Single submitter ⚠
- p.Arg1030Cys Single submitter ⚠
- p.Arg1105His Single submitter ⚠
- p.Arg111Trp Single submitter ⚠
- p.Arg1206His Single submitter ⚠
- p.Arg1207Gln Single submitter ⚠
- p.Arg1221Gln Single submitter ⚠
- p.Arg1273Cys Single submitter ⚠
- p.Arg1273His Single submitter ⚠
- p.Arg127Trp Single submitter ⚠
- p.Arg1341Gln Single submitter ⚠
- p.Arg1356Gln Single submitter ⚠
- p.Arg1377Trp Single submitter ⚠
- p.Arg1384Ter Single submitter hereditary spastic paraplegia
- p.Arg1433Cys Single submitter ⚠
- p.Arg1443Trp Single submitter ⚠
- p.Arg1478Trp Single submitter ⚠
- p.Arg1480Gln Single submitter ⚠
- p.Arg1480Trp Single submitter ⚠
- p.Arg1497His Single submitter ⚠
- p.Arg1497Leu Single submitter ⚠
- p.Arg1499Cys Single submitter ⚠
- p.Arg1520Gln Single submitter ⚠
- p.Arg1532His Single submitter ⚠
- p.Arg1539Trp Single submitter ⚠
- p.Arg1540His Single submitter ⚠
- p.Arg1562Gln Single submitter ⚠
- p.Arg1567Trp Single submitter ⚠
- p.Arg181Cys Single submitter ⚠
- p.Arg181His Single submitter ⚠
- p.Arg203His Single submitter ⚠
- p.Arg28Ser Single submitter ⚠
- p.Arg334Ser Single submitter ⚠
- p.Arg382Gln Single submitter ⚠
- p.Arg535Gly Single submitter ⚠
- p.Arg620Cys Single submitter ⚠
- p.Arg628Trp Single submitter ⚠
- p.Arg629His Single submitter ⚠
- p.Arg664Cys Single submitter ⚠
- p.Arg664His Single submitter ⚠
- p.Arg696His Single submitter ⚠
- p.Arg728Gln Single submitter ⚠
- p.Arg746Trp Single submitter ⚠
- p.Arg802Cys Single submitter ⚠
- p.Arg802His Single submitter ⚠
- p.Arg840Gln Single submitter ⚠
- p.Arg905His Single submitter ⚠
- p.Arg989Trp Single submitter ⚠
- p.Asn1263Lys Single submitter ⚠
- p.Asn867Ser Single submitter ⚠
- p.Asp1110Asn Single submitter ⚠
- p.Asp1496Tyr Single submitter ⚠
- p.Asp707Asn Single submitter ⚠
- p.Cys1122Tyr Single submitter ⚠
- p.Cys90= Single submitter
- p.Cys940Tyr Single submitter ⚠
- p.Gln1236Lys Single submitter ⚠
- p.Gln395Glu Single submitter ⚠
- p.Gln395Lys Single submitter ⚠
- p.Gln727His Single submitter ⚠
- p.Gln851His Single submitter ⚠
- p.Glu115Asp Single submitter ⚠
- p.Glu115Lys Single submitter ⚠
- p.Glu1226Gln Single submitter ⚠
- p.Glu1226Lys Single submitter ⚠
- p.Glu122Gly Single submitter ⚠
- p.Glu1329Val Single submitter ⚠
- p.Glu134_Ala135insGluAlaGlu Single submitter
- p.Glu1519Lys Single submitter ⚠
- p.Glu1575Gly Single submitter ⚠
- p.Glu184Lys Single submitter ⚠
- p.Glu206Asp Single submitter ⚠
- p.Glu314Gly Single submitter ⚠
- p.Glu470Lys Single submitter ⚠
- p.Gly1118Arg Single submitter
- p.Gly1346Cys Single submitter ⚠
- p.Gly1369Ser Single submitter ⚠
- p.Gly213Ser Single submitter ⚠
- p.Gly254Arg Single submitter ⚠
- p.Gly328Ser Single submitter ⚠
- p.Gly46Asp Single submitter ⚠
- p.Gly516Arg Single submitter ⚠
- p.Gly744Ser Single submitter ⚠
- p.His1004Arg Single submitter ⚠
- p.His11Arg Single submitter ⚠
- p.His1538Arg Single submitter ⚠
- p.Ile1094Val Single submitter ⚠
- p.Ile1198Val Single submitter ⚠
- p.Ile188Val Single submitter ⚠
- p.Ile816Met Single submitter ⚠
- p.Ile865Met Single submitter ⚠
- p.Leu1039Ile Single submitter ⚠
- p.Leu1173Pro Single submitter ⚠
- p.Leu302Ile Single submitter ⚠
- p.Leu803Arg Single submitter ⚠
- p.Leu947Val Single submitter ⚠
- p.Lys1114Arg Single submitter ⚠
- p.Lys288Gln Single submitter ⚠
- p.Lys763Glu Single submitter ⚠
- p.Met1103Ile Single submitter ⚠
- p.Met304Val Single submitter ⚠
- p.Met672Leu Single submitter ⚠
- p.Met742Ile Single submitter ⚠
- p.Met742Thr Single submitter ⚠
- p.Met748Thr Single submitter ⚠
- p.Phe1190Ser Single submitter ⚠
- p.Phe1243Val Single submitter ⚠
- p.Pro1289Ser Single submitter ⚠
- p.Pro1318Gln Single submitter ⚠
- p.Pro1378Leu Single submitter ⚠
- p.Pro1426_Pro1428del Single submitter
- p.Pro1427Gln Single submitter ⚠
- p.Pro1427Leu Single submitter ⚠
- p.Pro1430Ser Single submitter ⚠
- p.Pro147Ala Single submitter ⚠
- p.Pro1557Ala Single submitter ⚠
- p.Pro18Leu Single submitter ⚠
- p.Pro226His Single submitter ⚠
- p.Pro283Leu Single submitter ⚠
- p.Pro287Leu Single submitter ⚠
- p.Pro310Leu Single submitter ⚠
- p.Pro317Leu Single submitter ⚠
- p.Pro340Arg Single submitter ⚠
- p.Pro340His Single submitter ⚠
- p.Pro340Leu Single submitter ⚠
- p.Pro354Ser Single submitter ⚠
- p.Pro394Ser Single submitter
- p.Pro451Ser Single submitter ⚠
- p.Pro559Leu Single submitter ⚠
- p.Ser1009Ala Single submitter ⚠
- p.Ser1146Leu Single submitter ⚠
- p.Ser1404Leu Single submitter ⚠
- p.Ser1414Phe Single submitter ⚠
- p.Ser143Asn Single submitter ⚠
- p.Ser1521Thr Single submitter ⚠
- p.Ser1543Arg Single submitter ⚠
- p.Ser1543Cys Single submitter ⚠
- p.Ser163Leu Single submitter ⚠
- p.Ser372Phe Single submitter ⚠
- p.Ser372Tyr Single submitter ⚠
- p.Ser374Asn Single submitter ⚠
- p.Ser412Arg Single submitter ⚠
- p.Ser63Leu Single submitter ⚠
- p.Ser715Phe Single submitter ⚠
- p.Ser755Thr Single submitter ⚠
- p.Ser767Asn Single submitter ⚠
- p.Ser931Phe Single submitter ⚠
- p.Thr1381Pro Single submitter ⚠
- p.Thr1392Asn Single submitter ⚠
- p.Thr1453fs Single submitter
- p.Thr149Pro Single submitter ⚠
- p.Thr1524Ile Single submitter ⚠
- p.Thr236Ser Single submitter ⚠
- p.Thr333Ile Single submitter
- p.Thr433Met Single submitter ⚠
- p.Thr457Met Single submitter ⚠
- p.Thr457Ser Single submitter ⚠
- p.Thr461Ala Single submitter ⚠
- p.Thr490Met Single submitter ⚠
- p.Thr543Met Single submitter ⚠
- p.Thr630Ala Single submitter ⚠
- p.Thr791Met Single submitter ⚠
- p.Trp370Gly Single submitter ⚠
- p.Trp428Cys Single submitter ⚠
- p.Val1090Ala Single submitter
- p.Val1159Ala Single submitter ⚠
- p.Val1172Ile Single submitter ⚠
- p.Val1219Met Single submitter ⚠
- p.Val1287Met Single submitter ⚠
- p.Val1401Met Single submitter ⚠
- p.Val158Met Single submitter ⚠
- p.Val23Leu Single submitter ⚠
- p.Val320Met Single submitter ⚠
- p.Val331= Single submitter
- p.Val366Met Single submitter ⚠
- p.Val448Met Single submitter ⚠
- p.Val705Ala Single submitter ⚠
- p.Val765Leu Single submitter ⚠
- p.Val89= Single submitter
- p.Val995Met Single submitter ⚠