FAT2 — 1569 ClinVar variants
All ClinVar germline FAT2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 686 flagged for review →
1 Likely pathogenic · 78 Conflicting · 110 Benign · 47 Benign/Likely benign · 375 Likely benign · 958 Uncertain significance
Full FAT2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 686
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 agree, ClinVar conflicts 62
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- FAT2 p.Ala16Val Conflicting Single submitter
- FAT2 p.Ala2488Val Conflicting Single submitter
- FAT2 p.Ala2700Val Conflicting Single submitter
- FAT2 p.Ala2903Pro Conflicting Single submitter
- FAT2 p.Ala3383Val Conflicting Single submitter
- FAT2 p.Ala3503Val Conflicting Single submitter
- FAT2 p.Ala755Ser Conflicting Single submitter
- FAT2 p.Arg1427His Conflicting Single submitter
- FAT2 p.Arg1469Gln Conflicting Single submitter
- FAT2 p.Arg1584Gln Conflicting Single submitter
- FAT2 p.Arg1584Trp Conflicting Single submitter
- FAT2 p.Arg2305Cys Conflicting Single submitter
- FAT2 p.Arg2560Gln Conflicting Single submitter
- FAT2 p.Arg2728Gln Conflicting Single submitter
-
FAT2 p.Arg3269Cys
Conflicting
Single submitter
spinocerebellar ataxia 45
- FAT2 p.Arg3792Gln Conflicting Single submitter
- FAT2 p.Arg4242His Conflicting Single submitter
- FAT2 p.Arg4262His Conflicting Single submitter
- FAT2 p.Arg426Lys Conflicting Single submitter
- FAT2 p.Asn2325Ser Conflicting Single submitter
- FAT2 p.Asp2839Glu Conflicting Single submitter
- FAT2 p.Asp3543Glu Conflicting Single submitter
- FAT2 p.Asp3861Gly Conflicting Single submitter
- FAT2 p.Asp3949Asn Conflicting Single submitter
- FAT2 p.Asp3949His Conflicting Single submitter
- FAT2 p.Glu2853Gly Conflicting Single submitter
- FAT2 p.Glu4038Lys Conflicting Single submitter
-
FAT2 p.Glu884Lys
Conflicting
Single submitter
spastic ataxia
- FAT2 p.Gly283Arg Conflicting Single submitter
- FAT2 p.Gly3234Asp Conflicting Single submitter
- FAT2 p.Gly340Ser Conflicting Single submitter
- FAT2 p.Gly4285Ala Conflicting Single submitter
- FAT2 p.His3738Gln Conflicting Single submitter
- FAT2 p.Ile1568Thr Conflicting Single submitter
-
FAT2 p.Ile3371Val
Conflicting
Single submitter
spinocerebellar ataxia 45
- FAT2 p.Ile687Val Conflicting Single submitter
- FAT2 p.Ile839Val Conflicting Single submitter
- FAT2 p.Leu1159Met Conflicting Single submitter
-
FAT2 p.Leu1326Phe
Conflicting
Single submitter
spinocerebellar ataxia 45
- FAT2 p.Leu2201Phe Conflicting Single submitter
- FAT2 p.Leu5Val Conflicting Single submitter
- FAT2 p.Lys20Arg Conflicting Single submitter
- FAT2 p.Met2495Lys Conflicting Single submitter
- FAT2 p.Met3860Thr Conflicting Single submitter
- FAT2 p.Met4179Thr Conflicting Single submitter
- FAT2 p.Met584Leu Conflicting Single submitter
- FAT2 p.Pro1377Leu Conflicting Single submitter
- FAT2 p.Pro733Ser Conflicting Single submitter
- FAT2 p.Ser1599Gly Conflicting Single submitter
- FAT2 p.Ser1826Leu Conflicting Single submitter
- FAT2 p.Ser4107Asn Conflicting Single submitter
- FAT2 p.Thr1361Met Conflicting Single submitter
- FAT2 p.Thr3515Met Conflicting Single submitter
- FAT2 p.Thr3556Ala Conflicting Single submitter
- FAT2 p.Thr844Ala Conflicting Single submitter
- FAT2 p.Val1403Ile Conflicting Single submitter
- FAT2 p.Val3149Ala Conflicting Single submitter
- FAT2 p.Val3304Met Conflicting Single submitter
- FAT2 p.Val3484Ala Conflicting Single submitter
- FAT2 p.Val3818Ile Conflicting Single submitter
- FAT2 p.Val404Glu Conflicting Single submitter
- FAT2 p.Val4056Met Conflicting Single submitter
Predictors lean, ClinVar uncertain 602
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 602
- FAT2 p.Ala1009Val Uncertain significance Multiple submitters
- FAT2 p.Ala1078Thr Uncertain significance Multiple submitters
-
FAT2 p.Ala1079Asp
Uncertain significance
Multiple submitters
spinocerebellar ataxia 45
- FAT2 p.Ala249Val Uncertain significance Multiple submitters
- FAT2 p.Ala3055Thr Uncertain significance Multiple submitters
- FAT2 p.Ala3181Val Uncertain significance Multiple submitters
- FAT2 p.Ala3790Val Uncertain significance Multiple submitters
- FAT2 p.Ala4025Val Uncertain significance Multiple submitters
- FAT2 p.Ala4055Thr Uncertain significance Multiple submitters
- FAT2 p.Ala4100Asp Uncertain significance Multiple submitters
- FAT2 p.Ala63Val Uncertain significance Multiple submitters
- FAT2 p.Ala68Val Uncertain significance Multiple submitters
- FAT2 p.Ala744Pro Uncertain significance Multiple submitters
- FAT2 p.Arg1010His Uncertain significance Multiple submitters
- FAT2 p.Arg1072Cys Uncertain significance Multiple submitters
- FAT2 p.Arg1072His Uncertain significance Multiple submitters
- FAT2 p.Arg1097Gln Uncertain significance Multiple submitters
- FAT2 p.Arg1413Ser Uncertain significance Multiple submitters
- FAT2 p.Arg1554Cys Uncertain significance Multiple submitters
- FAT2 p.Arg1731Gln Uncertain significance Multiple submitters
- FAT2 p.Arg1937Gln Uncertain significance Multiple submitters
- FAT2 p.Arg2146Leu Uncertain significance Multiple submitters
- FAT2 p.Arg2413Cys Uncertain significance Multiple submitters
- FAT2 p.Arg3112Trp Uncertain significance Multiple submitters
- FAT2 p.Arg3295Gln Uncertain significance Multiple submitters
-
FAT2 p.Arg3558Gln
Uncertain significance
Multiple submitters
spinocerebellar ataxia 45
- FAT2 p.Arg3785Trp Uncertain significance Multiple submitters
- FAT2 p.Arg380His Uncertain significance Multiple submitters
- FAT2 p.Arg3845Cys Uncertain significance Multiple submitters
- FAT2 p.Arg4041Ser Uncertain significance Multiple submitters
- FAT2 p.Arg4071His Uncertain significance Multiple submitters
- FAT2 p.Arg4255Gln Uncertain significance Multiple submitters
- FAT2 p.Arg4282Gln Uncertain significance Multiple submitters
- FAT2 p.Arg4304Gln Uncertain significance Multiple submitters
- FAT2 p.Arg623Cys Uncertain significance Multiple submitters
- FAT2 p.Asn3471Lys Uncertain significance Multiple submitters
- FAT2 p.Asn556His Uncertain significance Multiple submitters
- FAT2 p.Asp1320Glu Uncertain significance Multiple submitters
- FAT2 p.Asp1747Gly Uncertain significance Multiple submitters
- FAT2 p.Asp2010Gly Uncertain significance Multiple submitters
- FAT2 p.Asp2407Glu Uncertain significance Multiple submitters
-
FAT2 p.Asp2665Glu
Uncertain significance
Multiple submitters
FAT2-related disorder
- FAT2 p.Asp3191Gly Uncertain significance Multiple submitters
- FAT2 p.Gln1616Glu Uncertain significance Multiple submitters
- FAT2 p.Gln2938His Uncertain significance Multiple submitters
- FAT2 p.Gln799Lys Uncertain significance Multiple submitters
- FAT2 p.Glu1219Lys Uncertain significance Multiple submitters
- FAT2 p.Glu1600Lys Uncertain significance Multiple submitters
- FAT2 p.Glu2415Gln Uncertain significance Multiple submitters
- FAT2 p.Glu3157Lys Uncertain significance Multiple submitters
- FAT2 p.Glu363Lys Uncertain significance Multiple submitters
- FAT2 p.Glu3851Lys Uncertain significance Multiple submitters
- FAT2 p.Glu3920Lys Uncertain significance Multiple submitters
- FAT2 p.Glu4197Lys Uncertain significance Multiple submitters
- FAT2 p.Glu56Lys Uncertain significance Multiple submitters
-
FAT2 p.Gly1261Arg
Uncertain significance
Multiple submitters
spinocerebellar ataxia 45
- FAT2 p.Gly297Glu Uncertain significance Multiple submitters
- FAT2 p.Gly3202Asp Uncertain significance Multiple submitters
- FAT2 p.Gly3252Ser Uncertain significance Multiple submitters
- FAT2 p.Gly3376Trp Uncertain significance Multiple submitters
- FAT2 p.Gly823Ser Uncertain significance Multiple submitters
- FAT2 p.Gly824Arg Uncertain significance Multiple submitters
- FAT2 p.His2344Arg Uncertain significance Multiple submitters
- FAT2 p.His2445Tyr Uncertain significance Multiple submitters
- FAT2 p.His3407Arg Uncertain significance Multiple submitters
- FAT2 p.Ile1337Val Uncertain significance Multiple submitters
- FAT2 p.Ile1612Thr Uncertain significance Multiple submitters
- FAT2 p.Ile1918Val Uncertain significance Multiple submitters
- FAT2 p.Ile2634Val Uncertain significance Multiple submitters
- FAT2 p.Ile2712Thr Uncertain significance Multiple submitters
- FAT2 p.Ile3412Met Uncertain significance Multiple submitters
-
FAT2 p.Lys2586Arg
Uncertain significance
Multiple submitters
spinocerebellar ataxia 45
- FAT2 p.Lys672Arg Uncertain significance Multiple submitters
- FAT2 p.Met1580Val Uncertain significance Multiple submitters
- FAT2 p.Met2014Val Uncertain significance Multiple submitters
- FAT2 p.Met3724Thr Uncertain significance Multiple submitters
- FAT2 p.Met383Thr Uncertain significance Multiple submitters
- FAT2 p.Met4172Thr Uncertain significance Multiple submitters
- FAT2 p.Pro1094Ser Uncertain significance Multiple submitters
-
FAT2 p.Pro146Ser
Uncertain significance
Multiple submitters
spinocerebellar ataxia 45
-
FAT2 p.Pro1817Ser
Uncertain significance
Multiple submitters
spinocerebellar ataxia 45
- FAT2 p.Pro2174Leu Uncertain significance Multiple submitters
- FAT2 p.Pro263Ser Uncertain significance Multiple submitters
- FAT2 p.Pro4119Leu Uncertain significance Multiple submitters
- FAT2 p.Pro4154Thr Uncertain significance Multiple submitters
- FAT2 p.Pro4204Leu Uncertain significance Multiple submitters
- FAT2 p.Pro472Ser Uncertain significance Multiple submitters
- FAT2 p.Pro509Thr Uncertain significance Multiple submitters
- FAT2 p.Ser1178Thr Uncertain significance Multiple submitters
- FAT2 p.Ser1329Asn Uncertain significance Multiple submitters
- FAT2 p.Ser1355Arg Uncertain significance Multiple submitters
- FAT2 p.Ser149Phe Uncertain significance Multiple submitters
- FAT2 p.Ser2197Thr Uncertain significance Multiple submitters
- FAT2 p.Ser2510Asn Uncertain significance Multiple submitters
- FAT2 p.Ser2854Asn Uncertain significance Multiple submitters
- FAT2 p.Ser830Leu Uncertain significance Multiple submitters
- FAT2 p.Thr1357Met Uncertain significance Multiple submitters
- FAT2 p.Thr1542Asn Uncertain significance Multiple submitters
- FAT2 p.Thr3100Asn Uncertain significance Multiple submitters
- FAT2 p.Thr3539Ala Uncertain significance Multiple submitters
- FAT2 p.Thr3750Met Uncertain significance Multiple submitters
-
FAT2 p.Thr3931Met
Uncertain significance
Multiple submitters
spinocerebellar ataxia 45
- FAT2 p.Trp577Cys Uncertain significance Multiple submitters
- FAT2 p.Val1020Ile Uncertain significance Multiple submitters
- FAT2 p.Val1650Ile Uncertain significance Multiple submitters
- FAT2 p.Val1988Met Uncertain significance Multiple submitters
- FAT2 p.Val211Ile Uncertain significance Multiple submitters
- FAT2 p.Val2318Ile Uncertain significance Multiple submitters
- FAT2 p.Val2713Leu Uncertain significance Multiple submitters
-
FAT2 p.Val2716Ala
Uncertain significance
Multiple submitters
cerebellar ataxia
- FAT2 p.Val3204Ile Uncertain significance Multiple submitters
- FAT2 p.Val3343Leu Uncertain significance Multiple submitters
- FAT2 p.Val4180Leu Uncertain significance Multiple submitters
- FAT2 p.Val4215Met Uncertain significance Multiple submitters
- FAT2 p.Val666Leu Uncertain significance Multiple submitters
- FAT2 p.Val675Ile Uncertain significance Multiple submitters
- FAT2 p.Ala1033Ser Uncertain significance Single submitter
- FAT2 p.Ala1093Val Uncertain significance Single submitter
- FAT2 p.Ala1290Asp Uncertain significance Single submitter
- FAT2 p.Ala1290Val Uncertain significance Single submitter
- FAT2 p.Ala1308Val Uncertain significance Single submitter
- FAT2 p.Ala1562Thr Uncertain significance Single submitter
- FAT2 p.Ala1582Thr Uncertain significance Single submitter
- FAT2 p.Ala1607Thr Uncertain significance Single submitter
- FAT2 p.Ala1632Glu Uncertain significance Single submitter
- FAT2 p.Ala1657Val Uncertain significance Single submitter
- FAT2 p.Ala16Glu Uncertain significance Single submitter
- FAT2 p.Ala1952Val Uncertain significance Single submitter
- FAT2 p.Ala2027Val Uncertain significance Single submitter
- FAT2 p.Ala2135Val Uncertain significance Single submitter
- FAT2 p.Ala2341Asp Uncertain significance Single submitter
- FAT2 p.Ala2341Thr Uncertain significance Single submitter
- FAT2 p.Ala2554Val Uncertain significance Single submitter
- FAT2 p.Ala255Asp Uncertain significance Single submitter
- FAT2 p.Ala255Val Uncertain significance Single submitter
- FAT2 p.Ala2718Asp Uncertain significance Single submitter
- FAT2 p.Ala2890Val Uncertain significance Single submitter
- FAT2 p.Ala2907Val Uncertain significance Single submitter
- FAT2 p.Ala2926Val Uncertain significance Single submitter
- FAT2 p.Ala3044Thr Uncertain significance Single submitter
- FAT2 p.Ala3334Thr Uncertain significance Single submitter
- FAT2 p.Ala3582Val Uncertain significance Single submitter
- FAT2 p.Ala3590Thr Uncertain significance Single submitter
- FAT2 p.Ala3590Val Uncertain significance Single submitter
- FAT2 p.Ala3674Glu Uncertain significance Single submitter
- FAT2 p.Ala3674Thr Uncertain significance Single submitter
- FAT2 p.Ala3678Thr Uncertain significance Single submitter
- FAT2 p.Ala3862Thr Uncertain significance Single submitter
- FAT2 p.Ala3933Thr Uncertain significance Single submitter
- FAT2 p.Ala3968Thr Uncertain significance Single submitter
Predictors split 22
The independent predictors disagree with each other — read with care.
- FAT2 p.Ala2993Pro Uncertain significance Multiple submitters
- FAT2 p.Asn1133Lys Benign/Likely benign Multiple submitters
- FAT2 p.Glu3542Gln Uncertain significance Multiple submitters
-
FAT2 p.Leu3279Val
Uncertain significance
Multiple submitters
spinocerebellar ataxia 45
- FAT2 p.Phe1851Leu Uncertain significance Multiple submitters
- FAT2 p.Ala2463Pro Uncertain significance Single submitter
- FAT2 p.Arg2030Trp Uncertain significance Single submitter
- FAT2 p.Asn3958Asp Uncertain significance Single submitter
- FAT2 p.Glu3222Lys Uncertain significance Single submitter
- FAT2 p.Gly1676Asp Uncertain significance Single submitter
- FAT2 p.Gly4065Arg Uncertain significance Single submitter
- FAT2 p.Ile765Thr Uncertain significance Single submitter
- FAT2 p.Leu2122Pro Uncertain significance Single submitter
- FAT2 p.Leu964Pro Uncertain significance Single submitter
- FAT2 p.Lys2221Glu Uncertain significance Single submitter
-
FAT2 p.Lys3586Asn
Uncertain significance
Single submitter
spinocerebellar ataxia 45
- FAT2 p.Phe1838Leu Uncertain significance Single submitter
- FAT2 p.Phe2090Leu Uncertain significance Single submitter
- FAT2 p.Phe3798Leu Uncertain significance Single submitter
- FAT2 p.Pro1658Ala Uncertain significance Single submitter
- FAT2 p.Pro899His Uncertain significance Single submitter
-
FAT2 p.Met4300Thr
Uncertain significance
No assertion criteria
spinocerebellar ataxia 45
All FAT2 variants
Likely pathogenic 1
- p.Glu1211Ala Single submitter spinocerebellar ataxia 45
Conflicting classifications of pathogenicity 78
- c.10309-3C>A Single submitter
- p.Ala16Val Single submitter ⚠
- p.Ala2488Val Single submitter ⚠
- p.Ala2700Val Single submitter ⚠
- p.Ala2903Pro Single submitter ⚠
- p.Ala3383Val Single submitter ⚠
- p.Ala3503Val Single submitter ⚠
- p.Ala4305Thr Single submitter
- p.Ala755Ser Single submitter ⚠
- p.Arg1427His Single submitter ⚠
- p.Arg1469Gln Single submitter ⚠
- p.Arg1584Gln Single submitter ⚠
- p.Arg1584Trp Single submitter ⚠
- p.Arg2305Cys Single submitter ⚠
- p.Arg2560Gln Single submitter ⚠
- p.Arg2728Gln Single submitter ⚠
- p.Arg3269Cys Single submitter spinocerebellar ataxia 45 ⚠
- p.Arg3792Gln Single submitter ⚠
- p.Arg4138Trp Single submitter
- p.Arg4242His Single submitter ⚠
- p.Arg4262His Single submitter ⚠
- p.Arg426Lys Single submitter ⚠
- p.Asn2325Ser Single submitter ⚠
- p.Asp2839Glu Single submitter ⚠
- p.Asp3543Glu Single submitter ⚠
- p.Asp3861Gly Single submitter ⚠
- p.Asp3949Asn Single submitter ⚠
- p.Asp3949His Single submitter ⚠
- p.Glu2853Gly Single submitter ⚠
- p.Glu4038Lys Single submitter ⚠
- p.Glu884Lys Single submitter spastic ataxia ⚠
- p.Gly1113Ser Single submitter
- p.Gly1636Val Single submitter
- p.Gly2667Ala Single submitter
- p.Gly283Arg Single submitter ⚠
- p.Gly3234Asp Single submitter ⚠
- p.Gly340Ser Single submitter ⚠
- p.Gly4285Ala Single submitter ⚠
- p.Gly90Asp Single submitter spinocerebellar ataxia 45
- p.His3738Gln Single submitter ⚠
- p.Ile1568Thr Single submitter ⚠
- p.Ile2520Val Single submitter
- p.Ile3371Val Single submitter spinocerebellar ataxia 45 ⚠
- p.Ile687Val Single submitter ⚠
- p.Ile722Thr Single submitter
- p.Ile839Val Single submitter ⚠
- p.Leu1159Met Single submitter ⚠
- p.Leu1326Phe Single submitter spinocerebellar ataxia 45 ⚠
- p.Leu2201Phe Single submitter ⚠
- p.Leu2704Arg Single submitter
- p.Leu3175Pro Single submitter
- p.Leu5Val Single submitter ⚠
- p.Lys20Arg Single submitter ⚠
- p.Met2495Lys Single submitter ⚠
- p.Met3860Thr Single submitter ⚠
- p.Met4179Thr Single submitter ⚠
- p.Met584Leu Single submitter ⚠
- p.Pro1220His Single submitter
- p.Pro1377Leu Single submitter ⚠
- p.Pro733Ser Single submitter ⚠
- p.Ser1599Gly Single submitter ⚠
- p.Ser1826Leu Single submitter ⚠
- p.Ser4107Asn Single submitter ⚠
- p.Thr1315Met Single submitter
- p.Thr1361Met Single submitter ⚠
- p.Thr1508Met Single submitter
- p.Thr3515Met Single submitter ⚠
- p.Thr3556Ala Single submitter ⚠
- p.Thr844Ala Single submitter ⚠
- p.Tyr1877His Single submitter
- p.Val1403Ile Single submitter ⚠
- p.Val3149Ala Single submitter ⚠
- p.Val3304Met Single submitter ⚠
- p.Val3484Ala Single submitter ⚠
- p.Val3818Ile Single submitter ⚠
- p.Val384Met Single submitter
- p.Val404Glu Single submitter ⚠
- p.Val4056Met Single submitter ⚠
Benign 110
- c.11906-13_11906-11del Multiple submitters
- c.12060-13_12060-12insCTT Multiple submitters
- c.12518-20_12518-17dup Multiple submitters
- c.3575-15T>A Multiple submitters
- c.9039+20T>C Multiple submitters
- p.Ala455= Multiple submitters
- p.Arg3318Gln Multiple submitters
- p.Arg3318Trp Multiple submitters
- p.Arg574Cys Multiple submitters spinocerebellar ataxia 45
- p.Arg854= Multiple submitters spinocerebellar ataxia 45
- p.Asp1654His Multiple submitters
- p.Asp3681= Multiple submitters spinocerebellar ataxia 45
- p.Glu159= Multiple submitters
- p.Gly1004Ser Multiple submitters spinocerebellar ataxia 45
- p.Gly1515Ser Multiple submitters
- p.Gly1571Ser Multiple submitters
- p.Gly571= Multiple submitters
- p.His3021= Multiple submitters
- p.His3966= Multiple submitters spinocerebellar ataxia 45
- p.Ile1125= Multiple submitters spinocerebellar ataxia 45
- p.Ile1881Thr Multiple submitters
- p.Ile3508= Multiple submitters
- p.Ile787= Multiple submitters spinocerebellar ataxia 45
- p.Leu3450= Multiple submitters spinocerebellar ataxia 45
- p.Leu3514Ser Multiple submitters spinocerebellar ataxia 45
- p.Leu932= Multiple submitters spinocerebellar ataxia 45
- p.Met3631Ile Multiple submitters spinocerebellar ataxia 45
- p.Phe2428Ser Multiple submitters spinocerebellar ataxia 45
- p.Phe686Ser Multiple submitters spinocerebellar ataxia 45
- p.Pro1164Leu Multiple submitters spinocerebellar ataxia 45
- p.Pro1848= Multiple submitters spinocerebellar ataxia 45
- p.Pro3479= Multiple submitters
- p.Pro4117Leu Multiple submitters spinocerebellar ataxia 45
- p.Pro509= Multiple submitters spinocerebellar ataxia 45
- p.Ser1414= Multiple submitters
- p.Ser258= Multiple submitters spinocerebellar ataxia 45
- p.Ser4169= Multiple submitters spinocerebellar ataxia 45
- p.Thr3071= Multiple submitters spinocerebellar ataxia 45
- p.Tyr1181His Multiple submitters spinocerebellar ataxia 45
- p.Tyr1973= Multiple submitters
- p.Tyr3618= Multiple submitters spinocerebellar ataxia 45
- p.Val1364= Multiple submitters
- p.Val1462Met Multiple submitters
- p.Val3519= Multiple submitters
- p.Val877= Multiple submitters spinocerebellar ataxia 45
- c.10026+80A>G Single submitter
- c.10027-125A>G Single submitter
- c.10027-47G>A Single submitter
- c.10165-25A>C Single submitter
- c.10308+206C>T Single submitter
- c.10308+74T>C Single submitter
- c.10506+52T>G Single submitter
- c.10507-151dup Single submitter
- c.10507-52G>A Single submitter
- c.11317+50C>T Single submitter
- c.11464-13A>G Single submitter
- c.11905+138dup Single submitter
- c.11905+182T>C Single submitter
- c.11905+63A>G Single submitter
- c.11906-70T>A Single submitter
- c.12060-112C>T Single submitter
- c.12060-13_12060-11dup Single submitter spinocerebellar ataxia 45
- c.12060-15_12060-14insATT Single submitter
- c.12060-28T>C Single submitter
- c.12517+18C>T Single submitter
- c.12517+99C>T Single submitter
- c.12518-130C>A Single submitter
- c.12518-36dup Single submitter
- c.3259+142G>C Single submitter
- c.3259+162G>T Single submitter
- c.3259+215G>T Single submitter
- c.3574+112T>C Single submitter
- c.4157-14C>T Single submitter
- c.4579-15C>T Single submitter
- c.8842+41C>T Single submitter
- c.9040-38C>T Single submitter
- c.9193+215A>G Single submitter
- c.9194-241A>G Single submitter
- c.9194-66T>C Single submitter
- c.9811+206A>G Single submitter
- c.9811+224C>A Single submitter
- c.9812-186del Single submitter
- c.-20-141T>C Single submitter
- c.-20-25A>G Single submitter
- p.Arg1895Trp Single submitter
- p.Arg992Gln Single submitter
- p.Asn4112Asp Single submitter
- p.Asp1350= Single submitter
- p.Asp425Asn Single submitter
- p.Asp644= Single submitter
- p.Gln3953His Single submitter
- p.Gly2054Ala Single submitter
- p.Ile1669= Single submitter
- p.Leu1295Pro Single submitter
- p.Leu1614Val Single submitter
- p.Leu3809= Single submitter
- p.Phe2116= Single submitter
- p.Phe3321= Single submitter
- p.Pro2085= Single submitter
- p.Pro2198= Single submitter
- p.Pro263= Single submitter
- p.Thr3306Ile Single submitter
- p.Thr3942Ser Single submitter
- p.Thr3955Pro Single submitter
- p.Trp1339Arg Single submitter
- p.Val1457Ile Single submitter
- p.Val3747= Single submitter
- p.Val444Ala Single submitter
- p.Val69Met Single submitter
- p.Gln2992His No assertion criteria
Benign/Likely benign 47
- c.12060-4G>A Multiple submitters
- p.Ala2907Thr Multiple submitters
- p.Ala3144= Multiple submitters
- p.Ala3503= Multiple submitters
- p.Arg1469= Multiple submitters
- p.Arg2050Gln Multiple submitters
- p.Arg3518His Multiple submitters
- p.Arg368Lys Multiple submitters
- p.Arg3785Gln Multiple submitters
- p.Arg4138Gln Multiple submitters
- p.Asn1133Lys Multiple submitters ⚠
- p.Asn3310= Multiple submitters
- p.Asn627Ser Multiple submitters
- p.Asn816= Multiple submitters
- p.Asn919= Multiple submitters
- p.Asp1003= Multiple submitters
- p.Asp1513Asn Multiple submitters
- p.Asp2509= Multiple submitters
- p.Asp2879= Multiple submitters
- p.Asp3098= Multiple submitters
- p.Glu3997Lys Multiple submitters
- p.Gly201Ala Multiple submitters
- p.Gly824= Multiple submitters
- p.Ile1907Thr Multiple submitters
- p.Leu1077= Multiple submitters
- p.Leu331= Multiple submitters
- p.Lys2736Glu Multiple submitters
- p.Phe1099Ser Multiple submitters
- p.Phe1538= Multiple submitters
- p.Phe1602Ser Multiple submitters
- p.Phe55= Multiple submitters
- p.Pro248Ser Multiple submitters
- p.Pro822Ser Multiple submitters
- p.Ser1047= Multiple submitters
- p.Ser1282= Multiple submitters
- p.Ser1599= Multiple submitters
- p.Ser4155Cys Multiple submitters spinocerebellar ataxia 45
- p.Ser616= Multiple submitters
- p.Thr1128= Multiple submitters
- p.Thr1508= Multiple submitters
- p.Thr2471= Multiple submitters
- p.Tyr3214= Multiple submitters
- p.Val1675= Multiple submitters
- p.Val2675= Multiple submitters
- p.Val277Leu Multiple submitters spinocerebellar ataxia 45
- p.Val2796= Multiple submitters
- p.Val3004Ile Multiple submitters
Likely benign 375
Showing the top 300 by review status; the full set is in the sitemap.
- c.4579-15C>G Multiple submitters
- c.8842+10C>A Multiple submitters
- c.9194-7C>T Multiple submitters
- c.9811+15C>T Multiple submitters
- p.Ala3072= Multiple submitters
- p.Arg1010Cys Multiple submitters spinocerebellar ataxia 45
- p.Arg2146Gln Multiple submitters
- p.Arg888Gln Multiple submitters
- p.Asn4188= Multiple submitters
- p.Asn4269= Multiple submitters
- p.Asn852= Multiple submitters
- p.Asp160= Multiple submitters
- p.Asp1654Asn Multiple submitters
- p.Asp696= Multiple submitters
- p.Gln370= Multiple submitters
- p.Glu1421= Multiple submitters
- p.Gly1883Arg Multiple submitters
- p.Gly215= Multiple submitters
- p.Gly378= Multiple submitters
- p.Gly770= Multiple submitters
- p.His1015= Multiple submitters
- p.His1521= Multiple submitters
- p.His1623Arg Multiple submitters
- p.His2757= Multiple submitters
- p.His2880= Multiple submitters
- p.His3850= Multiple submitters
- p.Ile1673= Multiple submitters
- p.Ile2436= Multiple submitters
- p.Ile683= Multiple submitters
- p.Leu2225= Multiple submitters
- p.Leu2652= Multiple submitters
- p.Leu3060= Multiple submitters
- p.Phe1185= Multiple submitters
- p.Phe3058= Multiple submitters
- p.Pro1377= Multiple submitters
- p.Pro1807= Multiple submitters
- p.Pro2068= Multiple submitters
- p.Pro2120Ser Multiple submitters
- p.Pro4005= Multiple submitters
- p.Pro4037= Multiple submitters
- p.Pro4204= Multiple submitters
- p.Pro956= Multiple submitters
- p.Ser1897= Multiple submitters
- p.Ser2994= Multiple submitters
- p.Ser3605= Multiple submitters
- p.Ser506= Multiple submitters
- p.Thr1128Met Multiple submitters spinocerebellar ataxia 45
- p.Thr1909Ile Multiple submitters
- p.Thr2150Met Multiple submitters
- p.Thr2218= Multiple submitters
- p.Thr2870Ala Multiple submitters spinocerebellar ataxia 45
- p.Thr3753= Multiple submitters
- p.Thr3931= Multiple submitters
- p.Thr570= Multiple submitters
- p.Thr732= Multiple submitters
- p.Tyr185= Multiple submitters
- p.Tyr395= Multiple submitters
- p.Val1972= Multiple submitters
- p.Val3309= Multiple submitters
- c.10026+6G>C Single submitter
- c.10027-13T>C Single submitter
- c.10027-4G>A Single submitter
- c.10027-5C>T Single submitter
- c.10164+10G>T Single submitter
- c.10164+16G>A Single submitter
- c.10164+19G>T Single submitter
- c.10165-19_10165-18insCCTCCATTGCTAC Single submitter
- c.10309-14A>C Single submitter
- c.10309-20T>C Single submitter
- c.10506+17G>T Single submitter
- c.11464-16T>C Single submitter
- c.11464-8C>G Single submitter
- c.12059+16G>A Single submitter
- c.12059+20C>T Single submitter
- c.12059+9A>G Single submitter
- c.12517+18C>G Single submitter
- c.12517+19G>A Single submitter
- c.12518-13T>G Single submitter
- c.12518-15G>A Single submitter
- c.12518-7C>T Single submitter
- c.3259+16T>G Single submitter
- c.3259+17A>G Single submitter
- c.3633+14G>A Single submitter
- c.3633+382C>A Single submitter
- c.3945+12G>A Single submitter
- c.4296+18G>T Single submitter
- c.4789+15C>A Single submitter
- c.4790-7del Single submitter
- c.9039+13C>G Single submitter
- c.9039+16G>A Single submitter
- c.9039+17G>T Single submitter
- c.9040-20_9040-18del Single submitter
- c.9193+11T>C Single submitter
- c.9194-6G>A Single submitter
- c.9427+12_9427+14del Single submitter
- c.9427+14G>A Single submitter
- c.9812-15C>A Single submitter
- p.Ala1100= Single submitter
- p.Ala1624= Single submitter
- p.Ala172= Single submitter
- p.Ala1736= Single submitter
- p.Ala1755= Single submitter
- p.Ala1952= Single submitter
- p.Ala2027= Single submitter
- p.Ala2195= Single submitter
- p.Ala2351= Single submitter
- p.Ala2567= Single submitter
- p.Ala2903= Single submitter
- p.Ala2933= Single submitter
- p.Ala3035= Single submitter
- p.Ala3055Val Single submitter
- p.Ala3144Val Single submitter
- p.Ala3531= Single submitter
- p.Ala3816= Single submitter
- p.Ala3816Val Single submitter
- p.Ala3940= Single submitter
- p.Ala4025= Single submitter
- p.Ala4055= Single submitter
- p.Ala4057= Single submitter
- p.Ala4057Val Single submitter
- p.Ala4088= Single submitter
- p.Ala4122Thr Single submitter
- p.Ala4152= Single submitter
- p.Ala4152Val Single submitter
- p.Ala4320Thr Single submitter
- p.Ala980= Single submitter
- p.Arg1006Lys Single submitter
- p.Arg1011= Single submitter
- p.Arg1265= Single submitter
- p.Arg1452His Single submitter
- p.Arg1554His Single submitter
- p.Arg1895Gln Single submitter
- p.Arg190= Single submitter
- p.Arg2057= Single submitter
- p.Arg2117= Single submitter
- p.Arg214= Single submitter
- p.Arg2728= Single submitter
- p.Arg2905Gln Single submitter
- p.Arg2974= Single submitter
- p.Arg3329= Single submitter
- p.Arg3492= Single submitter
- p.Arg3649= Single submitter
- p.Arg3777= Single submitter
- p.Arg380= Single submitter
- p.Arg3886= Single submitter
- p.Arg3889= Single submitter
- p.Arg4041= Single submitter
- p.Arg4089= Single submitter
- p.Arg4282= Single submitter
- p.Arg4326Gln Single submitter
- p.Arg574His Single submitter
- p.Arg72Trp Single submitter
- p.Arg883= Single submitter
- p.Asn1440= Single submitter
- p.Asn210= Single submitter
- p.Asn2617= Single submitter
- p.Asn3007= Single submitter
- p.Asn3276= Single submitter
- p.Asn3471= Single submitter
- p.Asn4112= Single submitter
- p.Asn691= Single submitter
- p.Asp1058= Single submitter
- p.Asp1270= Single submitter
- p.Asp1394= Single submitter
- p.Asp1566Glu Single submitter
- p.Asp2124= Single submitter
- p.Asp225Glu Single submitter
- p.Asp2306= Single submitter
- p.Asp2374= Single submitter
- p.Asp2580= Single submitter
- p.Asp2789= Single submitter
- p.Asp2829= Single submitter
- p.Asp2901= Single submitter
- p.Asp3338= Single submitter
- p.Asp4043= Single submitter
- p.Asp447= Single submitter
- p.Asp559= Single submitter
- p.Asp812= Single submitter
- p.Asp832= Single submitter
- p.Cys4344Tyr Single submitter
- p.Gln1158Pro Single submitter
- p.Gln2335= Single submitter
- p.Gln2383= Single submitter
- p.Gln3500His Single submitter
- p.Glu1284Lys Single submitter
- p.Glu1827= Single submitter
- p.Glu19= Single submitter
- p.Glu2031= Single submitter
- p.Glu2706Gln Single submitter
- p.Glu3642= Single submitter
- p.Glu760= Single submitter
- p.Gly1076= Single submitter
- p.Gly1378= Single submitter
- p.Gly1478= Single submitter
- p.Gly207= Single submitter
- p.Gly2459Glu Single submitter spinocerebellar ataxia 45
- p.Gly2511= Single submitter
- p.Gly2667= Single submitter
- p.Gly2913= Single submitter
- p.Gly3018= Single submitter
- p.Gly338= Single submitter
- p.Gly3459= Single submitter
- p.Gly349= Single submitter
- p.Gly4224= Single submitter
- p.Gly4285Arg Single submitter
- p.Gly4323= Single submitter
- p.Gly491= Single submitter
- p.Gly902= Single submitter
- p.His2426= Single submitter
- p.His2426Arg Single submitter
- p.His3657= Single submitter
- p.His3667= Single submitter
- p.His3797= Single submitter
- p.His4076= Single submitter
- p.His717= Single submitter
- p.Ile1019= Single submitter
- p.Ile1293= Single submitter
- p.Ile1334= Single submitter
- p.Ile1482= Single submitter
- p.Ile1824Thr Single submitter
- p.Ile2281= Single submitter
- p.Ile2553= Single submitter
- p.Ile3340Val Single submitter
- p.Ile4101= Single submitter
- p.Ile890Thr Single submitter
- p.Leu1008= Single submitter
- p.Leu107= Single submitter
- p.Leu1108= Single submitter
- p.Leu1222= Single submitter
- p.Leu1514= Single submitter
- p.Leu1718= Single submitter
- p.Leu1990= Single submitter
- p.Leu2215= Single submitter
- p.Leu2250= Single submitter
- p.Leu2485Val Single submitter
- p.Leu2608= Single submitter
- p.Leu3171= Single submitter
- p.Leu326= Single submitter
- p.Leu3266= Single submitter
- p.Leu3429= Single submitter
- p.Leu4049= Single submitter
- p.Leu4128= Single submitter
- p.Leu4148= Single submitter
- p.Leu4222= Single submitter
- p.Leu607= Single submitter
- p.Leu621= Single submitter
- p.Leu750= Single submitter
- p.Leu947= Single submitter
- p.Leu981= Single submitter
- p.Lys1617= Single submitter
- p.Lys1760= Single submitter
- p.Lys2128= Single submitter
- p.Lys2990= Single submitter
- p.Met1186Ile Single submitter
- p.Phe1035= Single submitter
- p.Phe2070= Single submitter
- p.Phe362Leu Single submitter
- p.Phe3837= Single submitter
- p.Pro1151= Single submitter
- p.Pro1342= Single submitter
- p.Pro146= Single submitter
- p.Pro1570= Single submitter
- p.Pro1674= Single submitter
- p.Pro198= Single submitter
- p.Pro2603= Single submitter
- p.Pro2689= Single submitter
- p.Pro3246= Single submitter
- p.Pro3424= Single submitter
- p.Pro3640= Single submitter
- p.Pro3887= Single submitter
- p.Pro4146= Single submitter
- p.Pro4240= Single submitter
- p.Pro4259= Single submitter
- p.Pro437= Single submitter
- p.Pro437Leu Single submitter
- p.Ser1118= Single submitter
- p.Ser1155= Single submitter
- p.Ser1372= Single submitter
- p.Ser1502= Single submitter
- p.Ser152= Single submitter
- p.Ser152Leu Single submitter
- p.Ser1661= Single submitter
- p.Ser1709= Single submitter
- p.Ser1835= Single submitter
- p.Ser2126= Single submitter
- p.Ser2734= Single submitter
- p.Ser2833= Single submitter
- p.Ser2908= Single submitter
- p.Ser2967= Single submitter
- p.Ser3161= Single submitter
- p.Ser3207= Single submitter
- p.Ser3297= Single submitter
- p.Ser3463= Single submitter
- p.Ser3599= Single submitter
- p.Ser3701= Single submitter
- p.Ser3903= Single submitter
- p.Ser4143= Single submitter
- p.Ser4206= Single submitter
- p.Ser582= Single submitter
- p.Ser830= Single submitter
Uncertain significance 958
Showing the top 300 by review status; the full set is in the sitemap.
- p.Ala1009Val Multiple submitters ⚠
- p.Ala1078Thr Multiple submitters ⚠
- p.Ala1079Asp Multiple submitters spinocerebellar ataxia 45 ⚠
- p.Ala1975Glu Multiple submitters
- p.Ala2491Glu Multiple submitters
- p.Ala249Val Multiple submitters ⚠
- p.Ala2587Val Multiple submitters
- p.Ala2618Thr Multiple submitters
- p.Ala2993Pro Multiple submitters ⚠
- p.Ala3055Thr Multiple submitters ⚠
- p.Ala3181Val Multiple submitters ⚠
- p.Ala3790Val Multiple submitters ⚠
- p.Ala4025Val Multiple submitters ⚠
- p.Ala4055Thr Multiple submitters ⚠
- p.Ala4100Asp Multiple submitters ⚠
- p.Ala63Val Multiple submitters ⚠
- p.Ala68Val Multiple submitters ⚠
- p.Ala744Pro Multiple submitters ⚠
- p.Arg1010His Multiple submitters ⚠
- p.Arg1072Cys Multiple submitters ⚠
- p.Arg1072His Multiple submitters ⚠
- p.Arg1097Gln Multiple submitters ⚠
- p.Arg1413Ser Multiple submitters ⚠
- p.Arg1554Cys Multiple submitters ⚠
- p.Arg1731Gln Multiple submitters ⚠
- p.Arg1937Gln Multiple submitters ⚠
- p.Arg2146Leu Multiple submitters ⚠
- p.Arg2413Cys Multiple submitters ⚠
- p.Arg2974Cys Multiple submitters
- p.Arg3112Trp Multiple submitters ⚠
- p.Arg3295Gln Multiple submitters ⚠
- p.Arg3386Gln Multiple submitters
- p.Arg3558Gln Multiple submitters spinocerebellar ataxia 45 ⚠
- p.Arg3649Trp Multiple submitters
- p.Arg3785Trp Multiple submitters ⚠
- p.Arg380His Multiple submitters ⚠
- p.Arg3845Cys Multiple submitters ⚠
- p.Arg4041Ser Multiple submitters ⚠
- p.Arg4071His Multiple submitters ⚠
- p.Arg4072Cys Multiple submitters
- p.Arg4147Thr Multiple submitters
- p.Arg4255Gln Multiple submitters ⚠
- p.Arg4282Gln Multiple submitters ⚠
- p.Arg4301His Multiple submitters
- p.Arg4304Gln Multiple submitters ⚠
- p.Arg543Cys Multiple submitters
- p.Arg544Trp Multiple submitters
- p.Arg623Cys Multiple submitters ⚠
- p.Arg72Gln Multiple submitters
- p.Asn3145Ser Multiple submitters
- p.Asn3471Lys Multiple submitters ⚠
- p.Asn556His Multiple submitters ⚠
- p.Asp1085Tyr Multiple submitters
- p.Asp1320Glu Multiple submitters ⚠
- p.Asp1513His Multiple submitters
- p.Asp1747Gly Multiple submitters ⚠
- p.Asp2010Gly Multiple submitters ⚠
- p.Asp2407Glu Multiple submitters ⚠
- p.Asp2665Glu Multiple submitters FAT2-related disorder ⚠
- p.Asp3191Gly Multiple submitters ⚠
- p.Asp741Asn Multiple submitters
- p.Cys168Tyr Multiple submitters
- p.Cys3118Arg Multiple submitters
- p.Gln1616Glu Multiple submitters ⚠
- p.Gln2938His Multiple submitters ⚠
- p.Gln799Lys Multiple submitters ⚠
- p.Glu1219Lys Multiple submitters ⚠
- p.Glu1600Lys Multiple submitters ⚠
- p.Glu2415Gln Multiple submitters ⚠
- p.Glu2899Lys Multiple submitters
- p.Glu3157Lys Multiple submitters ⚠
- p.Glu3542Gln Multiple submitters ⚠
- p.Glu363Lys Multiple submitters ⚠
- p.Glu3851Lys Multiple submitters ⚠
- p.Glu3920Lys Multiple submitters ⚠
- p.Glu4160Lys Multiple submitters
- p.Glu4197Lys Multiple submitters ⚠
- p.Glu56Lys Multiple submitters ⚠
- p.Gly1261Arg Multiple submitters spinocerebellar ataxia 45 ⚠
- p.Gly233Asp Multiple submitters
- p.Gly297Glu Multiple submitters ⚠
- p.Gly3202Asp Multiple submitters ⚠
- p.Gly3252Ser Multiple submitters ⚠
- p.Gly3376Trp Multiple submitters ⚠
- p.Gly3729Arg Multiple submitters
- p.Gly4042Trp Multiple submitters
- p.Gly4293Arg Multiple submitters
- p.Gly4294Val Multiple submitters
- p.Gly823Ser Multiple submitters ⚠
- p.Gly824Arg Multiple submitters ⚠
- p.His2344Arg Multiple submitters ⚠
- p.His2445Tyr Multiple submitters ⚠
- p.His3407Arg Multiple submitters ⚠
- p.Ile1146Thr Multiple submitters
- p.Ile1337Val Multiple submitters ⚠
- p.Ile1534Thr Multiple submitters
- p.Ile1543Phe Multiple submitters
- p.Ile1612Thr Multiple submitters ⚠
- p.Ile1918Val Multiple submitters ⚠
- p.Ile2516Thr Multiple submitters
- p.Ile2634Val Multiple submitters ⚠
- p.Ile2712Thr Multiple submitters ⚠
- p.Ile2765Thr Multiple submitters
- p.Ile3030Thr Multiple submitters
- p.Ile3412Met Multiple submitters ⚠
- p.Leu3279Val Multiple submitters spinocerebellar ataxia 45 ⚠
- p.Leu331Phe Multiple submitters
- p.Leu3638Phe Multiple submitters
- p.Leu3957Phe Multiple submitters
- p.Leu414Trp Multiple submitters
- p.Leu552fs Multiple submitters spinocerebellar ataxia 45
- p.Leu654Phe Multiple submitters
- p.Leu915Val Multiple submitters
- p.Lys2586Arg Multiple submitters spinocerebellar ataxia 45 ⚠
- p.Lys672Arg Multiple submitters ⚠
- p.Met1580Val Multiple submitters ⚠
- p.Met2014Val Multiple submitters ⚠
- p.Met2810Thr Multiple submitters
- p.Met3724Thr Multiple submitters ⚠
- p.Met383Thr Multiple submitters ⚠
- p.Met4172Thr Multiple submitters ⚠
- p.Phe1763Ser Multiple submitters
- p.Phe1851Leu Multiple submitters ⚠
- p.Phe4228Leu Multiple submitters
- p.Phe610Tyr Multiple submitters
- p.Pro1094Ser Multiple submitters ⚠
- p.Pro146Ser Multiple submitters spinocerebellar ataxia 45 ⚠
- p.Pro1807Leu Multiple submitters
- p.Pro1817Ser Multiple submitters spinocerebellar ataxia 45 ⚠
- p.Pro2120Arg Multiple submitters
- p.Pro2174Leu Multiple submitters ⚠
- p.Pro263Ser Multiple submitters ⚠
- p.Pro3351_Leu3352insTer Multiple submitters
- p.Pro3461Arg Multiple submitters
- p.Pro3560Ala Multiple submitters
- p.Pro4119Leu Multiple submitters ⚠
- p.Pro4154Thr Multiple submitters ⚠
- p.Pro4204Leu Multiple submitters ⚠
- p.Pro472Ser Multiple submitters ⚠
- p.Pro509Thr Multiple submitters ⚠
- p.Pro798Leu Multiple submitters
- p.Ser1178Thr Multiple submitters ⚠
- p.Ser1329Asn Multiple submitters ⚠
- p.Ser1355Arg Multiple submitters ⚠
- p.Ser149Phe Multiple submitters ⚠
- p.Ser1926Pro Multiple submitters
- p.Ser2197Thr Multiple submitters ⚠
- p.Ser2510Asn Multiple submitters ⚠
- p.Ser2854Asn Multiple submitters ⚠
- p.Ser3257Arg Multiple submitters
- p.Ser3906Cys Multiple submitters
- p.Ser830Leu Multiple submitters ⚠
- p.Thr1106Met Multiple submitters
- p.Thr1357Met Multiple submitters ⚠
- p.Thr1399Ile Multiple submitters
- p.Thr1542Asn Multiple submitters ⚠
- p.Thr3100Asn Multiple submitters ⚠
- p.Thr3127Arg Multiple submitters
- p.Thr3270Ile Multiple submitters
- p.Thr3539Ala Multiple submitters ⚠
- p.Thr3539Ile Multiple submitters
- p.Thr3750Met Multiple submitters ⚠
- p.Thr3931Met Multiple submitters spinocerebellar ataxia 45 ⚠
- p.Thr412Ile Multiple submitters
- p.Thr872Ser Multiple submitters
- p.Trp577Cys Multiple submitters ⚠
- p.Val1020Ile Multiple submitters ⚠
- p.Val1650Ile Multiple submitters ⚠
- p.Val1988Met Multiple submitters ⚠
- p.Val211Ile Multiple submitters ⚠
- p.Val2318Ile Multiple submitters ⚠
- p.Val2454Leu Multiple submitters
- p.Val2713Leu Multiple submitters ⚠
- p.Val2716Ala Multiple submitters cerebellar ataxia ⚠
- p.Val3168Leu Multiple submitters
- p.Val3204Ile Multiple submitters ⚠
- p.Val3343Leu Multiple submitters ⚠
- p.Val381Met Multiple submitters
- p.Val4180Leu Multiple submitters ⚠
- p.Val4215Met Multiple submitters ⚠
- p.Val666Leu Multiple submitters ⚠
- p.Val675Ile Multiple submitters ⚠
- c.10027-21_10027-20delinsCT Single submitter
- c.10309-8G>A Single submitter
- c.10507-3C>T Single submitter
- c.12518-2A>T Single submitter
- c.3574+2T>C Single submitter
- c.3574+6G>T Single submitter
- c.3633+4A>C Single submitter
- c.4789+3G>A Single submitter
- c.9193+3G>A Single submitter
- c.9427+5G>T Single submitter
- c.9428-57_9437dup Single submitter
- c.9428-9C>A Single submitter
- c.*12C>T Single submitter
- p.Ala1033Ser Single submitter ⚠
- p.Ala1056Thr Single submitter
- p.Ala1093Val Single submitter ⚠
- p.Ala1290Asp Single submitter ⚠
- p.Ala1290Val Single submitter ⚠
- p.Ala1308Val Single submitter ⚠
- p.Ala1328fs Single submitter
- p.Ala1562Thr Single submitter ⚠
- p.Ala1582Thr Single submitter ⚠
- p.Ala1607Thr Single submitter ⚠
- p.Ala1632Glu Single submitter ⚠
- p.Ala1632Lys Single submitter
- p.Ala1657Val Single submitter ⚠
- p.Ala16Glu Single submitter ⚠
- p.Ala1852Val Single submitter
- p.Ala1952Val Single submitter ⚠
- p.Ala2027Val Single submitter ⚠
- p.Ala2094Thr Single submitter
- p.Ala2135Val Single submitter ⚠
- p.Ala2195Val Single submitter
- p.Ala2341Asp Single submitter ⚠
- p.Ala2341Thr Single submitter ⚠
- p.Ala2351Val Single submitter
- p.Ala2463Pro Single submitter ⚠
- p.Ala2554Val Single submitter ⚠
- p.Ala255Asp Single submitter ⚠
- p.Ala255Val Single submitter ⚠
- p.Ala2715Val Single submitter
- p.Ala2718Asp Single submitter ⚠
- p.Ala2890Val Single submitter ⚠
- p.Ala2907Val Single submitter ⚠
- p.Ala2926Val Single submitter ⚠
- p.Ala3044Thr Single submitter ⚠
- p.Ala3334Asp Single submitter
- p.Ala3334Thr Single submitter ⚠
- p.Ala3582Val Single submitter ⚠
- p.Ala3590Thr Single submitter ⚠
- p.Ala3590Val Single submitter ⚠
- p.Ala3674Glu Single submitter ⚠
- p.Ala3674Thr Single submitter ⚠
- p.Ala3678Thr Single submitter ⚠
- p.Ala3754Thr Single submitter FAT2-related disorder
- p.Ala3862Thr Single submitter ⚠
- p.Ala3933Thr Single submitter ⚠
- p.Ala3968Thr Single submitter ⚠
- p.Ala3993Thr Single submitter ⚠
- p.Ala3993Val Single submitter spinocerebellar ataxia 45 ⚠
- p.Ala4057Thr Single submitter ⚠
- p.Ala4088Thr Single submitter ⚠
- p.Ala4108Val Single submitter ⚠
- p.Ala4320Val Single submitter ⚠
- p.Ala498Thr Single submitter ⚠
- p.Ala4Val Single submitter ⚠
- p.Ala649Val Single submitter
- p.Ala739Val Single submitter
- p.Ala755Thr Single submitter ⚠
- p.Ala776Thr Single submitter ⚠
- p.Ala817Thr Single submitter ⚠
- p.Ala949Ser Single submitter
- p.Ala957Val Single submitter ⚠
- p.Ala968Thr Single submitter ⚠
- p.Arg1072Ser Single submitter
- p.Arg1097Pro Single submitter
- p.Arg109Gly Single submitter
- p.Arg1250Cys Single submitter
- p.Arg1250Leu Single submitter ⚠
- p.Arg1254Gly Single submitter ⚠
- p.Arg1278Ser Single submitter ⚠
- p.Arg1331Trp Single submitter
- p.Arg133Cys Single submitter
- p.Arg133His Single submitter ⚠
- p.Arg1341Gln Single submitter ⚠
- p.Arg1341Trp Single submitter ⚠
- p.Arg1427Cys Single submitter ⚠
- p.Arg1469Ter Single submitter
- p.Arg1854Gly Single submitter ⚠
- p.Arg190Trp Single submitter
- p.Arg1937Trp Single submitter ⚠
- p.Arg2030Gln Single submitter
- p.Arg2030Trp Single submitter ⚠
- p.Arg2046Gln Single submitter ⚠
- p.Arg2046Trp Single submitter
- p.Arg2117Gln Single submitter ⚠
- p.Arg2117Ter Single submitter
- p.Arg2146Trp Single submitter ⚠
- p.Arg214Ter Single submitter
- p.Arg2196Gln Single submitter ⚠
- p.Arg2196Trp Single submitter
- p.Arg2202Gln Single submitter ⚠
- p.Arg2202Trp Single submitter
- p.Arg226Cys Single submitter
- p.Arg226His Single submitter
- p.Arg228Gln Single submitter ⚠
- p.Arg228Trp Single submitter
- p.Arg2303Trp Single submitter ⚠
- p.Arg2453Ser Single submitter ⚠
- p.Arg2462Gln Single submitter ⚠
- p.Arg2462Ter Single submitter
- p.Arg2545Gln Single submitter
- p.Arg2551Lys Single submitter spinocerebellar ataxia 45 ⚠
- p.Arg2560Trp Single submitter ⚠
- p.Arg2678Gln Single submitter ⚠
- p.Arg2728Trp Single submitter ⚠
- p.Arg2974His Single submitter
- p.Arg3075Gln Single submitter