AHNAK — 1101 ClinVar variants
All ClinVar germline AHNAK variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 785 flagged for review →
17 Conflicting · 50 Benign · 7 Benign/Likely benign · 111 Likely benign · 916 Uncertain significance
Full AHNAK gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 785
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 13
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- AHNAK p.Ala1778Val Conflicting Single submitter
- AHNAK p.Ala5326Val Conflicting Single submitter
- AHNAK p.Asp860Asn Conflicting Single submitter
- AHNAK p.Gln3142Arg Conflicting Single submitter
- AHNAK p.Ile3435Thr Conflicting Single submitter
- AHNAK p.Ile4636Thr Conflicting Single submitter
- AHNAK p.Leu3882Val Conflicting Single submitter
- AHNAK p.Lys2019Asn Conflicting Single submitter
- AHNAK p.Lys3530Arg Conflicting Single submitter
- AHNAK p.Lys4166Arg Conflicting Single submitter
- AHNAK p.Lys433Arg Conflicting Single submitter
- AHNAK p.Pro463Ser Conflicting Single submitter
- AHNAK p.Val792Leu Conflicting Single submitter
Predictors lean, ClinVar uncertain 693
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 693
- AHNAK p.Asn3289His Uncertain significance Multiple submitters
- AHNAK p.Gly365Val Uncertain significance Multiple submitters
- AHNAK p.Ala1153Ser Uncertain significance Single submitter
- AHNAK p.Ala1432Val Uncertain significance Single submitter
- AHNAK p.Ala1496Val Uncertain significance Single submitter
- AHNAK p.Ala214Thr Uncertain significance Single submitter
- AHNAK p.Ala226Pro Uncertain significance Single submitter
- AHNAK p.Ala2576Val Uncertain significance Single submitter
- AHNAK p.Ala3200Thr Uncertain significance Single submitter
- AHNAK p.Ala3200Val Uncertain significance Single submitter
- AHNAK p.Ala327Thr Uncertain significance Single submitter
- AHNAK p.Ala333Val Uncertain significance Single submitter
- AHNAK p.Ala3453Pro Uncertain significance Single submitter
- AHNAK p.Ala3742Thr Uncertain significance Single submitter
- AHNAK p.Ala389Thr Uncertain significance Single submitter
- AHNAK p.Ala4032Val Uncertain significance Single submitter
- AHNAK p.Ala4046Thr Uncertain significance Single submitter
- AHNAK p.Ala4302Thr Uncertain significance Single submitter
- AHNAK p.Ala4356Ser Uncertain significance Single submitter
- AHNAK p.Ala444Thr Uncertain significance Single submitter
- AHNAK p.Ala4679Ser Uncertain significance Single submitter
- AHNAK p.Ala4702Val Uncertain significance Single submitter
- AHNAK p.Ala4830Ser Uncertain significance Single submitter
- AHNAK p.Ala4984Val Uncertain significance Single submitter
- AHNAK p.Ala5138Val Uncertain significance Single submitter
- AHNAK p.Ala5170Thr Uncertain significance Single submitter
- AHNAK p.Ala5229Thr Uncertain significance Single submitter
- AHNAK p.Ala5257Ser Uncertain significance Single submitter
- AHNAK p.Ala5538Val Uncertain significance Single submitter
- AHNAK p.Ala5570Thr Uncertain significance Single submitter
- AHNAK p.Ala5637Pro Uncertain significance Single submitter
- AHNAK p.Ala5637Ser Uncertain significance Single submitter
- AHNAK p.Ala5693Thr Uncertain significance Single submitter
- AHNAK p.Ala579Val Uncertain significance Single submitter
- AHNAK p.Ala764Val Uncertain significance Single submitter
- AHNAK p.Arg149His Uncertain significance Single submitter
- AHNAK p.Arg167Trp Uncertain significance Single submitter
- AHNAK p.Arg3351His Uncertain significance Single submitter
- AHNAK p.Arg3924Pro Uncertain significance Single submitter
- AHNAK p.Arg4889Cys Uncertain significance Single submitter
- AHNAK p.Arg5671His Uncertain significance Single submitter
- AHNAK p.Arg5777Trp Uncertain significance Single submitter
- AHNAK p.Arg5861Gln Uncertain significance Single submitter
- AHNAK p.Arg593Gly Uncertain significance Single submitter
- AHNAK p.Arg92His Uncertain significance Single submitter
- AHNAK p.Asn194Ser Uncertain significance Single submitter
- AHNAK p.Asn2452Asp Uncertain significance Single submitter
- AHNAK p.Asn3551Lys Uncertain significance Single submitter
- AHNAK p.Asn3720Lys Uncertain significance Single submitter
- AHNAK p.Asn3720Thr Uncertain significance Single submitter
- AHNAK p.Asn3848His Uncertain significance Single submitter
- AHNAK p.Asn40Asp Uncertain significance Single submitter
- AHNAK p.Asn4453Tyr Uncertain significance Single submitter
- AHNAK p.Asn4729Tyr Uncertain significance Single submitter
- AHNAK p.Asn4765Lys Uncertain significance Single submitter
- AHNAK p.Asn5174Asp Uncertain significance Single submitter
- AHNAK p.Asn5291Lys Uncertain significance Single submitter
- AHNAK p.Asn5423Ser Uncertain significance Single submitter
- AHNAK p.Asn5607Lys Uncertain significance Single submitter
- AHNAK p.Asn5781Asp Uncertain significance Single submitter
- AHNAK p.Asp1086Gly Uncertain significance Single submitter
- AHNAK p.Asp1100Glu Uncertain significance Single submitter
- AHNAK p.Asp117His Uncertain significance Single submitter
- AHNAK p.Asp1214Asn Uncertain significance Single submitter
- AHNAK p.Asp1239Val Uncertain significance Single submitter
- AHNAK p.Asp1275Asn Uncertain significance Single submitter
- AHNAK p.Asp1291Gly Uncertain significance Single submitter
- AHNAK p.Asp1291Tyr Uncertain significance Single submitter
- AHNAK p.Asp1296Asn Uncertain significance Single submitter
- AHNAK p.Asp1342Ala Uncertain significance Single submitter
- AHNAK p.Asp1403Glu Uncertain significance Single submitter
- AHNAK p.Asp1493Tyr Uncertain significance Single submitter
- AHNAK p.Asp1596His Uncertain significance Single submitter
- AHNAK p.Asp1628Asn Uncertain significance Single submitter
- AHNAK p.Asp1657Tyr Uncertain significance Single submitter
- AHNAK p.Asp1659Asn Uncertain significance Single submitter
- AHNAK p.Asp1672Glu Uncertain significance Single submitter
- AHNAK p.Asp1688Gly Uncertain significance Single submitter
- AHNAK p.Asp1816Gly Uncertain significance Single submitter
- AHNAK p.Asp1872Asn Uncertain significance Single submitter
- AHNAK p.Asp2036Gly Uncertain significance Single submitter
- AHNAK p.Asp2038Glu Uncertain significance Single submitter
- AHNAK p.Asp2076Asn Uncertain significance Single submitter
- AHNAK p.Asp2085Asn Uncertain significance Single submitter
- AHNAK p.Asp2157Asn Uncertain significance Single submitter
- AHNAK p.Asp2157Glu Uncertain significance Single submitter
- AHNAK p.Asp2164Val Uncertain significance Single submitter
- AHNAK p.Asp2228Val Uncertain significance Single submitter
- AHNAK p.Asp2280His Uncertain significance Single submitter
- AHNAK p.Asp2392Tyr Uncertain significance Single submitter
- AHNAK p.Asp2583Gly Uncertain significance Single submitter
- AHNAK p.Asp2596Asn Uncertain significance Single submitter
- AHNAK p.Asp2626Gly Uncertain significance Single submitter
- AHNAK p.Asp266Ala Uncertain significance Single submitter
- AHNAK p.Asp2980Asn Uncertain significance Single submitter
- AHNAK p.Asp2980Gly Uncertain significance Single submitter
- AHNAK p.Asp2982Val Uncertain significance Single submitter
- AHNAK p.Asp3010Asn Uncertain significance Single submitter
- AHNAK p.Asp3261Val Uncertain significance Single submitter
- AHNAK p.Asp3493Glu Uncertain significance Single submitter
- AHNAK p.Asp3516Asn Uncertain significance Single submitter
- AHNAK p.Asp3585Gly Uncertain significance Single submitter
- AHNAK p.Asp3644His Uncertain significance Single submitter
- AHNAK p.Asp3651His Uncertain significance Single submitter
- AHNAK p.Asp3832Val Uncertain significance Single submitter
- AHNAK p.Asp4050Gly Uncertain significance Single submitter
- AHNAK p.Asp4135Glu Uncertain significance Single submitter
- AHNAK p.Asp4157Asn Uncertain significance Single submitter
- AHNAK p.Asp419Asn Uncertain significance Single submitter
- AHNAK p.Asp4216Glu Uncertain significance Single submitter
- AHNAK p.Asp4230Ala Uncertain significance Single submitter
- AHNAK p.Asp4389Glu Uncertain significance Single submitter
- AHNAK p.Asp4389Gly Uncertain significance Single submitter
- AHNAK p.Asp4402His Uncertain significance Single submitter
- AHNAK p.Asp4476Val Uncertain significance Single submitter
- AHNAK p.Asp4563His Uncertain significance Single submitter
- AHNAK p.Asp4610Asn Uncertain significance Single submitter
- AHNAK p.Asp4642Glu Uncertain significance Single submitter
- AHNAK p.Asp4689Val Uncertain significance Single submitter
- AHNAK p.Asp4738Asn Uncertain significance Single submitter
- AHNAK p.Asp4829Gly Uncertain significance Single submitter
- AHNAK p.Asp4884Val Uncertain significance Single submitter
- AHNAK p.Asp4969Val Uncertain significance Single submitter
- AHNAK p.Asp4997Val Uncertain significance Single submitter
- AHNAK p.Asp5061His Uncertain significance Single submitter
- AHNAK p.Asp517Gly Uncertain significance Single submitter
- AHNAK p.Asp5277Gly Uncertain significance Single submitter
- AHNAK p.Asp5301Asn Uncertain significance Single submitter
- AHNAK p.Asp5316His Uncertain significance Single submitter
- AHNAK p.Asp5540Asn Uncertain significance Single submitter
- AHNAK p.Asp5571His Uncertain significance Single submitter
- AHNAK p.Asp5842Asn Uncertain significance Single submitter
- AHNAK p.Asp611Glu Uncertain significance Single submitter
- AHNAK p.Asp656His Uncertain significance Single submitter
- AHNAK p.Asp744Glu Uncertain significance Single submitter
- AHNAK p.Asp862Gly Uncertain significance Single submitter
- AHNAK p.Asp974Gly Uncertain significance Single submitter
- AHNAK p.Cys1833Tyr Uncertain significance Single submitter
- AHNAK p.Gln4518Lys Uncertain significance Single submitter
- AHNAK p.Glu1014Lys Uncertain significance Single submitter
- AHNAK p.Glu1093Lys Uncertain significance Single submitter
- AHNAK p.Glu1116Lys Uncertain significance Single submitter
- AHNAK p.Glu1303Asp Uncertain significance Single submitter
- AHNAK p.Glu1679Lys Uncertain significance Single submitter
- AHNAK p.Glu168Lys Uncertain significance Single submitter
- AHNAK p.Glu1731Ala Uncertain significance Single submitter
- AHNAK p.Glu1805Gln Uncertain significance Single submitter
- AHNAK p.Glu2094Ala Uncertain significance Single submitter
- AHNAK p.Glu2176Gly Uncertain significance Single submitter
- AHNAK p.Glu2210Asp Uncertain significance Single submitter
Predictors split 79
The independent predictors disagree with each other — read with care.
- AHNAK p.Ala1617Asp Uncertain significance Single submitter
- AHNAK p.Ala2165Glu Uncertain significance Single submitter
- AHNAK p.Gly1206Arg Uncertain significance Single submitter
- AHNAK p.Gly1564Asp Uncertain significance Single submitter
- AHNAK p.Gly1610Arg Uncertain significance Single submitter
- AHNAK p.Gly1669Arg Uncertain significance Single submitter
- AHNAK p.Gly1792Arg Uncertain significance Single submitter
- AHNAK p.Gly1907Asp Uncertain significance Single submitter
- AHNAK p.Gly1938Glu Uncertain significance Single submitter
- AHNAK p.Gly2343Asp Uncertain significance Single submitter
- AHNAK p.Gly2350Asp Uncertain significance Single submitter
- AHNAK p.Gly3076Arg Uncertain significance Single submitter
- AHNAK p.Gly3107Arg Uncertain significance Single submitter
- AHNAK p.Gly4140Arg Uncertain significance Single submitter
- AHNAK p.Gly5041Arg Uncertain significance Single submitter
- AHNAK p.Gly5086Arg Uncertain significance Single submitter
- AHNAK p.Gly5724Arg Uncertain significance Single submitter
- AHNAK p.Gly5741Cys Uncertain significance Single submitter
- AHNAK p.Ile1001Thr Uncertain significance Single submitter
- AHNAK p.Ile2489Ser Uncertain significance Single submitter
- AHNAK p.Ile2743Ser Uncertain significance Single submitter
- AHNAK p.Ile2835Thr Uncertain significance Single submitter
- AHNAK p.Ile2939Ser Uncertain significance Single submitter
- AHNAK p.Ile2999Thr Uncertain significance Single submitter
- AHNAK p.Ile3127Thr Uncertain significance Single submitter
- AHNAK p.Ile4842Lys Uncertain significance Single submitter
- AHNAK p.Ile55Met Uncertain significance Single submitter
- AHNAK p.Ile5736Asn Uncertain significance Single submitter
- AHNAK p.Leu1864Pro Uncertain significance Single submitter
- AHNAK p.Leu1998Pro Uncertain significance Single submitter
- AHNAK p.Leu2842Pro Uncertain significance Single submitter
- AHNAK p.Leu3074Ser Uncertain significance Single submitter
- AHNAK p.Leu4058Pro Uncertain significance Single submitter
- AHNAK p.Leu4084Trp Uncertain significance Single submitter
- AHNAK p.Leu4414Pro Conflicting Single submitter
- AHNAK p.Leu4858Ser Uncertain significance Single submitter
- AHNAK p.Leu5707Pro Uncertain significance Single submitter
- AHNAK p.Lys1205Asn Uncertain significance Single submitter
- AHNAK p.Lys1594Ile Uncertain significance Single submitter
- AHNAK p.Lys2113Asn Uncertain significance Single submitter
- AHNAK p.Lys2517Asn Uncertain significance Single submitter
- AHNAK p.Lys2901Glu Uncertain significance Single submitter
- AHNAK p.Lys3080Asn Likely benign Single submitter
- AHNAK p.Lys3404Glu Uncertain significance Single submitter
- AHNAK p.Lys4202Asn Uncertain significance Single submitter
- AHNAK p.Lys4710Asn Uncertain significance Single submitter
- AHNAK p.Lys5101Asn Uncertain significance Single submitter
- AHNAK p.Lys5711Asn Uncertain significance Single submitter
- AHNAK p.Met1510Lys Uncertain significance Single submitter
- AHNAK p.Met1569Lys Uncertain significance Single submitter
- AHNAK p.Met2314Ile Uncertain significance Single submitter
- AHNAK p.Met2709Arg Uncertain significance Single submitter
- AHNAK p.Met2953Ile Uncertain significance Single submitter
- AHNAK p.Met3160Arg Uncertain significance Single submitter
- AHNAK p.Met3477Arg Uncertain significance Single submitter
- AHNAK p.Met3607Thr Uncertain significance Single submitter
- AHNAK p.Met4387Thr Uncertain significance Single submitter
- AHNAK p.Met4449Lys Conflicting Single submitter
- AHNAK p.Met4839Lys Uncertain significance Single submitter
- AHNAK p.Met5025Thr Uncertain significance Single submitter
- AHNAK p.Phe1395Leu Uncertain significance Single submitter
- AHNAK p.Phe2112Leu Uncertain significance Single submitter
- AHNAK p.Phe2300Leu Benign Single submitter
- AHNAK p.Phe2907Leu Uncertain significance Single submitter
- AHNAK p.Phe439Leu Uncertain significance Single submitter
- AHNAK p.Pro2511Leu Uncertain significance Single submitter
- AHNAK p.Pro2570Ala Uncertain significance Single submitter
- AHNAK p.Pro2639Ser Uncertain significance Single submitter
- AHNAK p.Pro2705Leu Uncertain significance Single submitter
- AHNAK p.Pro2833Thr Uncertain significance Single submitter
- AHNAK p.Pro2838Leu Uncertain significance Single submitter
- AHNAK p.Pro3296Ser Conflicting Single submitter
- AHNAK p.Pro3810Leu Uncertain significance Single submitter
- AHNAK p.Pro4189Ser Uncertain significance Single submitter
- AHNAK p.Trp2506Arg Uncertain significance Single submitter
- AHNAK p.Trp3598Arg Uncertain significance Single submitter
- AHNAK p.Val3042Glu Uncertain significance Single submitter
- AHNAK p.Val3044Ala Uncertain significance Single submitter
- AHNAK p.Val4433Asp Uncertain significance Single submitter
All AHNAK variants
Conflicting classifications of pathogenicity 17
- p.Ala1778Val Single submitter ⚠
- p.Ala5326Val Single submitter ⚠
- p.Asp860Asn Single submitter ⚠
- p.Cys1900Ser Single submitter
- p.Gln3142Arg Single submitter ⚠
- p.Ile3435Thr Single submitter ⚠
- p.Ile4636Thr Single submitter ⚠
- p.Leu3882Val Single submitter ⚠
- p.Leu4414Pro Single submitter ⚠
- p.Lys2019Asn Single submitter ⚠
- p.Lys3530Arg Single submitter ⚠
- p.Lys4166Arg Single submitter ⚠
- p.Lys433Arg Single submitter ⚠
- p.Met4449Lys Single submitter ⚠
- p.Pro3296Ser Single submitter ⚠
- p.Pro463Ser Single submitter ⚠
- p.Val792Leu Single submitter ⚠
Benign 50
- p.Arg1063Lys Multiple submitters
- p.Arg1272Pro Multiple submitters
- p.Asn3587Ser Multiple submitters
- p.Asp1493= Multiple submitters
- p.Asp2459= Multiple submitters
- p.Asp2803= Multiple submitters
- p.Asp3180= Multiple submitters
- p.Asp4304Gly Multiple submitters
- p.Cys2806Tyr Multiple submitters
- p.Gln392= Multiple submitters
- p.Gly1631Ser Multiple submitters
- p.Gly1766Val Multiple submitters
- p.Gly2658Val Multiple submitters
- p.Gly393Glu Multiple submitters
- p.Gly4160= Multiple submitters
- p.Gly4737= Multiple submitters
- p.Gly5242Arg Multiple submitters
- p.Ile1548Met Multiple submitters
- p.Ile3378Thr Multiple submitters
- p.Ile4165Val Multiple submitters
- p.Leu2970Trp Multiple submitters
- p.Leu5408= Multiple submitters
- p.Leu84= Multiple submitters
- p.Lys1666Arg Multiple submitters
- p.Lys2247Thr Multiple submitters
- p.Lys3729= Multiple submitters
- p.Met1572Val Multiple submitters
- p.Phe1523= Multiple submitters
- p.Pro1497Arg Multiple submitters
- p.Pro307= Multiple submitters
- p.Pro4127= Multiple submitters
- p.Ser5807Phe Multiple submitters
- p.Tyr715= Multiple submitters
- p.Val1944= Multiple submitters
- p.Val1956Leu Multiple submitters
- p.Val2206= Multiple submitters
- p.Val5075Met Multiple submitters
- p.Asp1019= Single submitter
- p.Gly2979= Single submitter
- p.Ile1366del Single submitter
- p.Leu5862Val Single submitter
- p.Leu86= Single submitter
- p.Lys4038Arg Single submitter
- p.Phe2300Leu Single submitter ⚠
- p.Ser412Ile Single submitter
- p.Thr5796Met Single submitter
- p.Val104= Single submitter
- p.Glu5_Thr6insGlu No assertion criteria AHNAK-related disorder
- p.Gly148Val No assertion criteria AHNAK-related disorder
- p.Leu122Val No assertion criteria AHNAK-related disorder
Benign/Likely benign 7
- p.Ala3588= Multiple submitters
- p.Glu5699= Multiple submitters
- p.Gly2434Asp Multiple submitters
- p.Gly5496Glu Multiple submitters
- p.Pro2521Arg Multiple submitters Hirschsprung disease, susceptibility to, 1
- p.Pro4625= Multiple submitters
- p.Val5440Met Multiple submitters
Likely benign 111
- p.Asp4817= Multiple submitters
- p.Leu2105Phe Multiple submitters
- p.Pro809= Multiple submitters
- p.Ser4516Asn Multiple submitters
- p.Ala1873Val Single submitter
- p.Ala2624Asp Single submitter
- p.Ala3588Val Single submitter
- p.Ala3742Ser Single submitter
- p.Ala399= Single submitter
- p.Ala4238Gly Single submitter
- p.Ala4718Ser Single submitter
- p.Ala4807= Single submitter
- p.Ala4830= Single submitter
- p.Ala4927Thr Single submitter
- p.Ala5570Val Single submitter
- p.Ala580Thr Single submitter
- p.Arg102His Single submitter
- p.Arg207= Single submitter
- p.Arg5446Gln Single submitter
- p.Arg606Gly Single submitter
- p.Asn115= Single submitter
- p.Asn2452Ser Single submitter
- p.Asn2497Ser Single submitter
- p.Asn2843His Single submitter
- p.Asn5006= Single submitter
- p.Asn831Lys Single submitter
- p.Asp1705Gly Single submitter
- p.Asp1969Glu Single submitter
- p.Asp2076= Single submitter
- p.Asp4263= Single submitter
- p.Asp4301Asn Single submitter
- p.Asp4829= Single submitter
- p.Gln4180His Single submitter
- p.Gln5339Lys Single submitter
- p.Glu1221= Single submitter
- p.Glu4290= Single submitter
- p.Glu4698Lys Single submitter
- p.Glu4796= Single submitter
- p.Gly1269Ala Single submitter
- p.Gly1953= Single submitter
- p.Gly2873= Single submitter
- p.Gly343Ser Single submitter
- p.Gly3656= Single submitter
- p.Gly3687= Single submitter
- p.Gly4012= Single submitter
- p.Gly424= Single submitter
- p.Gly4797= Single submitter
- p.Gly914Asp Single submitter
- p.Gly914Val Single submitter
- p.His187= Single submitter
- p.His1997Asn Single submitter
- p.His394Arg Single submitter
- p.His4308Gln Single submitter
- p.Ile3781Leu Single submitter
- p.Ile3868Val Single submitter
- p.Ile4172= Single submitter
- p.Ile4300= Single submitter
- p.Ile4361= Single submitter
- p.Ile4390Leu Single submitter
- p.Ile4567Val Single submitter
- p.Ile4809= Single submitter
- p.Leu1998= Single submitter
- p.Leu2690= Single submitter
- p.Leu3833Ile Single submitter
- p.Leu4264= Single submitter
- p.Leu4650= Single submitter
- p.Leu4832= Single submitter
- p.Lys3080Asn Single submitter ⚠
- p.Lys4016= Single submitter
- p.Lys4659= Single submitter
- p.Met1671Val Single submitter
- p.Met2007Val Single submitter
- p.Met4461Val Single submitter
- p.Phe1821Ser Single submitter
- p.Pro2499= Single submitter
- p.Pro2504= Single submitter
- p.Pro3279Gln Single submitter
- p.Pro3522= Single submitter
- p.Pro4013= Single submitter
- p.Pro4168= Single submitter
- p.Pro4289= Single submitter
- p.Pro4303= Single submitter
- p.Pro4821= Single submitter
- p.Pro5450Ser Single submitter
- p.Ser1445Asn Single submitter
- p.Ser212Leu Single submitter
- p.Ser3159= Single submitter
- p.Ser4812= Single submitter
- p.Ser4960= Single submitter
- p.Ser5386= Single submitter
- p.Ser5418= Single submitter
- p.Thr1036Ile Single submitter
- p.Thr38Met Single submitter
- p.Val1411Ile Single submitter
- p.Val1476Ala Single submitter
- p.Val1786= Single submitter
- p.Val2077Ile Single submitter
- p.Val2539Ile Single submitter
- p.Val3963Ile Single submitter
- p.Val3970Ile Single submitter
- p.Val415= Single submitter
- p.Val4191Met Single submitter
- p.Val4305= Single submitter
- p.Val4541Ile Single submitter
- p.Val5297Ile Single submitter
- p.Val5705Ile Single submitter
- p.Val612Ile Single submitter
- p.Ala137= No assertion criteria AHNAK-related disorder
- p.Glu4626Lys No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
- p.Gly138= No assertion criteria AHNAK-related disorder
- p.Val142Ile No assertion criteria AHNAK-related disorder
Uncertain significance 916
Showing the top 300 by review status; the full set is in the sitemap.
- p.Asn3289His Multiple submitters ⚠
- p.Gly365Val Multiple submitters ⚠
- p.Ala1153Ser Single submitter ⚠
- p.Ala1432Val Single submitter ⚠
- p.Ala1496Val Single submitter ⚠
- p.Ala1617Asp Single submitter ⚠
- p.Ala214Thr Single submitter ⚠
- p.Ala2165Glu Single submitter ⚠
- p.Ala226Pro Single submitter ⚠
- p.Ala2576Val Single submitter ⚠
- p.Ala3200Thr Single submitter ⚠
- p.Ala3200Val Single submitter ⚠
- p.Ala327Thr Single submitter ⚠
- p.Ala333Val Single submitter ⚠
- p.Ala3453Pro Single submitter ⚠
- p.Ala3742Thr Single submitter ⚠
- p.Ala389Thr Single submitter ⚠
- p.Ala4032Val Single submitter ⚠
- p.Ala4046Thr Single submitter ⚠
- p.Ala4302Thr Single submitter ⚠
- p.Ala4356Ser Single submitter ⚠
- p.Ala4366Glu Single submitter
- p.Ala444Thr Single submitter ⚠
- p.Ala4679Ser Single submitter ⚠
- p.Ala4702Val Single submitter ⚠
- p.Ala4830Ser Single submitter ⚠
- p.Ala4984Val Single submitter ⚠
- p.Ala5138Val Single submitter ⚠
- p.Ala5170Thr Single submitter ⚠
- p.Ala5229Thr Single submitter ⚠
- p.Ala5257Ser Single submitter ⚠
- p.Ala5538Val Single submitter ⚠
- p.Ala5570Thr Single submitter ⚠
- p.Ala5637Pro Single submitter ⚠
- p.Ala5637Ser Single submitter ⚠
- p.Ala5693Thr Single submitter ⚠
- p.Ala579Val Single submitter ⚠
- p.Ala764Val Single submitter ⚠
- p.Arg149His Single submitter ⚠
- p.Arg167Trp Single submitter ⚠
- p.Arg3351His Single submitter ⚠
- p.Arg3924Pro Single submitter ⚠
- p.Arg4889Cys Single submitter ⚠
- p.Arg5671His Single submitter ⚠
- p.Arg5777Trp Single submitter ⚠
- p.Arg5861Gln Single submitter ⚠
- p.Arg593Gly Single submitter ⚠
- p.Arg92His Single submitter ⚠
- p.Asn1587Lys Single submitter
- p.Asn194Ser Single submitter ⚠
- p.Asn2452Asp Single submitter ⚠
- p.Asn3551Lys Single submitter ⚠
- p.Asn3720Lys Single submitter ⚠
- p.Asn3720Thr Single submitter ⚠
- p.Asn3848His Single submitter ⚠
- p.Asn40Asp Single submitter ⚠
- p.Asn4251Ile Single submitter
- p.Asn4453Tyr Single submitter ⚠
- p.Asn4729Tyr Single submitter ⚠
- p.Asn4765Lys Single submitter ⚠
- p.Asn5174Asp Single submitter ⚠
- p.Asn5291Lys Single submitter ⚠
- p.Asn5423Ser Single submitter ⚠
- p.Asn5607Lys Single submitter ⚠
- p.Asn5781Asp Single submitter ⚠
- p.Asp1086Gly Single submitter ⚠
- p.Asp1100Glu Single submitter ⚠
- p.Asp117His Single submitter ⚠
- p.Asp1214Asn Single submitter ⚠
- p.Asp1239Val Single submitter ⚠
- p.Asp1275Asn Single submitter ⚠
- p.Asp1291Gly Single submitter ⚠
- p.Asp1291Tyr Single submitter ⚠
- p.Asp1296Asn Single submitter ⚠
- p.Asp1342Ala Single submitter ⚠
- p.Asp1403Glu Single submitter ⚠
- p.Asp1493Tyr Single submitter ⚠
- p.Asp1596His Single submitter ⚠
- p.Asp1628Asn Single submitter ⚠
- p.Asp1657Tyr Single submitter ⚠
- p.Asp1659Asn Single submitter ⚠
- p.Asp1672Glu Single submitter ⚠
- p.Asp1688Gly Single submitter ⚠
- p.Asp1816Gly Single submitter ⚠
- p.Asp1872Asn Single submitter ⚠
- p.Asp2036Gly Single submitter ⚠
- p.Asp2038Glu Single submitter ⚠
- p.Asp2076Asn Single submitter ⚠
- p.Asp2085Asn Single submitter ⚠
- p.Asp2157Asn Single submitter ⚠
- p.Asp2157Glu Single submitter ⚠
- p.Asp2164Val Single submitter ⚠
- p.Asp2228Val Single submitter ⚠
- p.Asp2280His Single submitter ⚠
- p.Asp2392Tyr Single submitter ⚠
- p.Asp2583Gly Single submitter ⚠
- p.Asp2596Asn Single submitter ⚠
- p.Asp2626Gly Single submitter ⚠
- p.Asp266Ala Single submitter ⚠
- p.Asp2726Tyr Single submitter
- p.Asp2882His Single submitter
- p.Asp2889Tyr Single submitter
- p.Asp2980Asn Single submitter ⚠
- p.Asp2980Gly Single submitter ⚠
- p.Asp2982Val Single submitter ⚠
- p.Asp2998His Single submitter
- p.Asp3010Asn Single submitter ⚠
- p.Asp3171Glu Single submitter
- p.Asp3171Gly Single submitter
- p.Asp3261Val Single submitter ⚠
- p.Asp3386Gly Single submitter
- p.Asp3493Glu Single submitter ⚠
- p.Asp3516Asn Single submitter ⚠
- p.Asp3562Ala Single submitter
- p.Asp3585Gly Single submitter ⚠
- p.Asp3644His Single submitter ⚠
- p.Asp3651His Single submitter ⚠
- p.Asp3823His Single submitter
- p.Asp3832Val Single submitter ⚠
- p.Asp4050Gly Single submitter ⚠
- p.Asp4135Glu Single submitter ⚠
- p.Asp4157Asn Single submitter ⚠
- p.Asp419Asn Single submitter ⚠
- p.Asp4216Glu Single submitter ⚠
- p.Asp4230Ala Single submitter ⚠
- p.Asp4344His Single submitter
- p.Asp4389Glu Single submitter ⚠
- p.Asp4389Gly Single submitter ⚠
- p.Asp4402His Single submitter ⚠
- p.Asp4476Val Single submitter ⚠
- p.Asp4563His Single submitter ⚠
- p.Asp4610Asn Single submitter ⚠
- p.Asp4642Glu Single submitter ⚠
- p.Asp4689Val Single submitter ⚠
- p.Asp4738Asn Single submitter ⚠
- p.Asp4799His Single submitter
- p.Asp4829Gly Single submitter ⚠
- p.Asp4868His Single submitter
- p.Asp4884Val Single submitter ⚠
- p.Asp4969Val Single submitter ⚠
- p.Asp4997Val Single submitter ⚠
- p.Asp5061His Single submitter ⚠
- p.Asp517Gly Single submitter ⚠
- p.Asp5277Gly Single submitter ⚠
- p.Asp5301Asn Single submitter ⚠
- p.Asp5316His Single submitter ⚠
- p.Asp5540Asn Single submitter ⚠
- p.Asp5571His Single submitter ⚠
- p.Asp5842Asn Single submitter ⚠
- p.Asp611Glu Single submitter ⚠
- p.Asp656His Single submitter ⚠
- p.Asp744Glu Single submitter ⚠
- p.Asp862Gly Single submitter ⚠
- p.Asp974Gly Single submitter ⚠
- p.Cys1833Tyr Single submitter ⚠
- p.Cys1967Tyr Single submitter
- p.Gln4518Lys Single submitter ⚠
- p.Glu1014Lys Single submitter ⚠
- p.Glu1093Lys Single submitter ⚠
- p.Glu1116Lys Single submitter ⚠
- p.Glu1303Asp Single submitter ⚠
- p.Glu1679Lys Single submitter ⚠
- p.Glu168Lys Single submitter ⚠
- p.Glu1731Ala Single submitter ⚠
- p.Glu1805Gln Single submitter ⚠
- p.Glu2094Ala Single submitter ⚠
- p.Glu2176Gly Single submitter ⚠
- p.Glu2210Asp Single submitter ⚠
- p.Glu2210Lys Single submitter ⚠
- p.Glu2292Gln Single submitter ⚠
- p.Glu2687Gln Single submitter ⚠
- p.Glu2861Asp Single submitter ⚠
- p.Glu2910Gln Single submitter ⚠
- p.Glu3068Lys Single submitter ⚠
- p.Glu3166Gln Single submitter ⚠
- p.Glu3169Ala Single submitter ⚠
- p.Glu381Lys Single submitter ⚠
- p.Glu4027Lys Single submitter ⚠
- p.Glu4133Lys Single submitter ⚠
- p.Glu4966Lys Single submitter ⚠
- p.Glu5094Val Single submitter
- p.Glu5116Lys Single submitter ⚠
- p.Glu5132Lys Single submitter ⚠
- p.Glu5156Val Single submitter ⚠
- p.Glu5274Gln Single submitter ⚠
- p.Glu5398Lys Single submitter ⚠
- p.Glu5489Gln Single submitter ⚠
- p.Glu5760Lys Single submitter ⚠
- p.Glu5890Ala Single submitter ⚠
- p.Glu595Gly Single submitter ⚠
- p.Glu798Gly Single submitter ⚠
- p.Gly1013Glu Single submitter ⚠
- p.Gly1048Glu Single submitter
- p.Gly1083Arg Single submitter
- p.Gly1206Arg Single submitter ⚠
- p.Gly1233Ala Single submitter ⚠
- p.Gly1397Glu Single submitter
- p.Gly1467Glu Single submitter ⚠
- p.Gly1489Val Single submitter ⚠
- p.Gly1525Val Single submitter ⚠
- p.Gly1564Asp Single submitter ⚠
- p.Gly1610Arg Single submitter ⚠
- p.Gly1610Asp Single submitter
- p.Gly1610Cys Single submitter ⚠
- p.Gly1664Ala Single submitter ⚠
- p.Gly1669Arg Single submitter ⚠
- p.Gly1669Glu Single submitter
- p.Gly1792Arg Single submitter ⚠
- p.Gly1792Val Single submitter
- p.Gly1907Asp Single submitter ⚠
- p.Gly1938Glu Single submitter ⚠
- p.Gly19Ala Single submitter
- p.Gly2000Val Single submitter
- p.Gly2260Val Single submitter ⚠
- p.Gly2339Glu Single submitter
- p.Gly2343Asp Single submitter ⚠
- p.Gly2350Asp Single submitter ⚠
- p.Gly2367Ser Single submitter ⚠
- p.Gly2417Val Single submitter ⚠
- p.Gly2480Ala Single submitter ⚠
- p.Gly255Asp Single submitter ⚠
- p.Gly2595Asp Single submitter
- p.Gly264Asp Single submitter ⚠
- p.Gly2653Glu Single submitter
- p.Gly2846Ser Single submitter ⚠
- p.Gly285Arg Single submitter ⚠
- p.Gly2862Glu Single submitter ⚠
- p.Gly2873Val Single submitter ⚠
- p.Gly2887Ala Single submitter ⚠
- p.Gly3034Ser Single submitter ⚠
- p.Gly3069Ala Single submitter ⚠
- p.Gly3076Arg Single submitter ⚠
- p.Gly3076Val Single submitter
- p.Gly3107Arg Single submitter ⚠
- p.Gly3246Cys Single submitter ⚠
- p.Gly3271Asp Single submitter
- p.Gly3304Asp Single submitter ⚠
- p.Gly3320Ala Single submitter ⚠
- p.Gly3514Arg Single submitter
- p.Gly3528Val Single submitter ⚠
- p.Gly3617Ala Single submitter ⚠
- p.Gly3617Arg Single submitter
- p.Gly3635Arg Single submitter
- p.Gly3649Ser Single submitter ⚠
- p.Gly3709Val Single submitter ⚠
- p.Gly3986Ser Single submitter ⚠
- p.Gly4140Arg Single submitter ⚠
- p.Gly4160Cys Single submitter ⚠
- p.Gly4200Ala Single submitter ⚠
- p.Gly4203Ala Single submitter ⚠
- p.Gly4242Ser Single submitter ⚠
- p.Gly4268Ser Single submitter ⚠
- p.Gly4284Val Single submitter
- p.Gly4295Val Single submitter ⚠
- p.Gly4349Ser Single submitter ⚠
- p.Gly4396Ser Single submitter ⚠
- p.Gly4497Asp Single submitter
- p.Gly450Glu Single submitter ⚠
- p.Gly458Asp Single submitter ⚠
- p.Gly4685Val Single submitter ⚠
- p.Gly4759Ser Single submitter ⚠
- p.Gly47Arg Single submitter
- p.Gly4934Cys Single submitter ⚠
- p.Gly4940Ser Single submitter ⚠
- p.Gly5041Arg Single submitter ⚠
- p.Gly5049Asp Single submitter ⚠
- p.Gly5086Arg Single submitter ⚠
- p.Gly5188Ser Single submitter ⚠
- p.Gly5205Ala Single submitter ⚠
- p.Gly5210Asp Single submitter
- p.Gly5210Val Single submitter ⚠
- p.Gly5216Glu Single submitter ⚠
- p.Gly5333Asp Single submitter ⚠
- p.Gly5335Ser Single submitter ⚠
- p.Gly5399Ser Single submitter ⚠
- p.Gly5525Cys Single submitter
- p.Gly5529Asp Single submitter ⚠
- p.Gly5558Val Single submitter ⚠
- p.Gly5569Ser Single submitter ⚠
- p.Gly5592Asp Single submitter ⚠
- p.Gly5592Ser Single submitter ⚠
- p.Gly5615Val Single submitter ⚠
- p.Gly5616Asp Single submitter ⚠
- p.Gly5626Glu Single submitter ⚠
- p.Gly562Ala Single submitter ⚠
- p.Gly562Arg Single submitter ⚠
- p.Gly5647Cys Single submitter ⚠
- p.Gly5652Arg Single submitter ⚠
- p.Gly565Arg Single submitter ⚠
- p.Gly5670Asp Single submitter ⚠
- p.Gly5724Arg Single submitter ⚠
- p.Gly5741Asp Single submitter
- p.Gly5741Cys Single submitter ⚠
- p.Gly5815Arg Single submitter
- p.Gly596Glu Single submitter ⚠
- p.Gly643Arg Single submitter ⚠
- p.Gly677Arg Single submitter ⚠
- p.Gly713Arg Single submitter
- p.Gly713Glu Single submitter ⚠
- p.Gly766Asp Single submitter ⚠