FAT1 — 1786 ClinVar variants
All ClinVar germline FAT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 661 flagged for review →
23 Pathogenic · 14 Likely pathogenic · 50 Conflicting · 120 Benign · 84 Benign/Likely benign · 519 Likely benign · 976 Uncertain significance
Full FAT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 661
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 3
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
FAT1 p.Ala1003Val
Likely pathogenic
No assertion criteria
nephrotic syndrome
-
FAT1 p.Arg1506His
Likely pathogenic
No assertion criteria
nephrotic syndrome
-
FAT1 p.Asn286Ser
Likely pathogenic
No assertion criteria
nephrotic syndrome
Predictors agree, ClinVar conflicts 40
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
FAT1 p.Ala3644Thr
Conflicting
Single submitter
Inborn genetic diseases
-
FAT1 p.Ala4419Thr
Conflicting
Single submitter
Inborn genetic diseases
-
FAT1 p.Ala4471Val
Conflicting
Single submitter
Inborn genetic diseases
-
FAT1 p.Ala511Val
Conflicting
Single submitter
Inborn genetic diseases
- FAT1 p.Arg1257Gln Conflicting Single submitter
-
FAT1 p.Arg1262Gln
Conflicting
Single submitter
Inborn genetic diseases
-
FAT1 p.Arg1654Cys
Conflicting
Single submitter
Inborn genetic diseases
- FAT1 p.Arg1654His Conflicting Single submitter
-
FAT1 p.Arg902Ser
Conflicting
Single submitter
Inborn genetic diseases
-
FAT1 p.Asn3907Ser
Conflicting
Single submitter
FAT1-related disorder
- FAT1 p.Asp1113Asn Conflicting Single submitter
-
FAT1 p.Asp2373Gly
Conflicting
Single submitter
Inborn genetic diseases
-
FAT1 p.Asp3360Gly
Conflicting
Single submitter
Inborn genetic diseases
-
FAT1 p.Glu3507Lys
Conflicting
Single submitter
Inborn genetic diseases
-
FAT1 p.Gly1961Ser
Conflicting
Single submitter
Inborn genetic diseases
-
FAT1 p.Gly19Ala
Conflicting
Single submitter
FAT1-related disorder
-
FAT1 p.Gly321Ser
Conflicting
Single submitter
Inborn genetic diseases
- FAT1 p.His809Arg Conflicting Single submitter
-
FAT1 p.Ile1125Leu
Conflicting
Single submitter
Inborn genetic diseases
-
FAT1 p.Ile1478Met
Conflicting
Single submitter
Inborn genetic diseases
-
FAT1 p.Ile2070Thr
Conflicting
Single submitter
Inborn genetic diseases
-
FAT1 p.Ile478Val
Conflicting
Single submitter
Inborn genetic diseases
-
FAT1 p.Leu4141Val
Conflicting
Single submitter
Inborn genetic diseases
-
FAT1 p.Leu485Val
Conflicting
Single submitter
Inborn genetic diseases
- FAT1 p.Lys2121Glu Conflicting Single submitter
- FAT1 p.Lys2988Ile Conflicting Single submitter
-
FAT1 p.Thr1179Ser
Conflicting
Single submitter
Inborn genetic diseases
-
FAT1 p.Thr2377Met
Conflicting
Single submitter
autosomal dominant cerebellar ataxia
- FAT1 p.Tyr212Phe Conflicting Single submitter
-
FAT1 p.Val1023Ile
Conflicting
Single submitter
Inborn genetic diseases
-
FAT1 p.Val1079Ile
Conflicting
Single submitter
Inborn genetic diseases
- FAT1 p.Val1117Met Conflicting Single submitter
-
FAT1 p.Val2969Ile
Conflicting
Single submitter
Inborn genetic diseases
- FAT1 p.Val3656Ile Conflicting Single submitter
-
FAT1 p.Val533Ile
Conflicting
Single submitter
Inborn genetic diseases
-
FAT1 p.Val553Ile
Conflicting
Single submitter
Inborn genetic diseases
-
FAT1 p.Val57Ile
Conflicting
Single submitter
Inborn genetic diseases
-
FAT1 p.Val873Met
Conflicting
Single submitter
Inborn genetic diseases
- FAT1 p.Val912Ile Conflicting Single submitter
-
FAT1 p.Val945Ile
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 581
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 581
- FAT1 p.Ala1762Val Uncertain significance Multiple submitters
-
FAT1 p.Ala1862Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAT1 p.Ala2046Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FAT1 p.Ala2456Thr Uncertain significance Multiple submitters
-
FAT1 p.Ala2502Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAT1 p.Ala3437Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAT1 p.Ala3913Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAT1 p.Ala4042Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAT1 p.Ala4224Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAT1 p.Ala4471Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAT1 p.Arg1332His
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FAT1 p.Arg2021Cys Uncertain significance Multiple submitters
- FAT1 p.Arg3233Cys Uncertain significance Multiple submitters
-
FAT1 p.Arg3505Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAT1 p.Arg3773His
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FAT1 p.Arg4208Gln Uncertain significance Multiple submitters
-
FAT1 p.Arg806His
Uncertain significance
Multiple submitters
FAT1-related disorder
-
FAT1 p.Asn1220Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAT1 p.Asn2543Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAT1 p.Asn2666Ser
Uncertain significance
Multiple submitters
FAT1-related disorder
-
FAT1 p.Asn4402Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FAT1 p.Asn4492Lys Uncertain significance Multiple submitters
-
FAT1 p.Asn749Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAT1 p.Asp1060His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAT1 p.Asp1787Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAT1 p.Asp1956Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAT1 p.Asp3128Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAT1 p.Asp3626Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAT1 p.Asp3749Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAT1 p.Asp4467Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAT1 p.Gln2775Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAT1 p.Gln346Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAT1 p.Gln3494Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAT1 p.Gln359Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAT1 p.Gln3679Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAT1 p.Gln4023Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAT1 p.Gln958His
Uncertain significance
Multiple submitters
FAT1-related disorder
-
FAT1 p.Glu1354Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAT1 p.Glu1769Gly
Uncertain significance
Multiple submitters
FAT1-related disorder
-
FAT1 p.Glu214Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FAT1 p.Glu3852Asp Uncertain significance Multiple submitters
-
FAT1 p.Glu38Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FAT1 p.Glu4096Asp Uncertain significance Multiple submitters
-
FAT1 p.Glu825Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FAT1 p.Gly2653Ser Uncertain significance Multiple submitters
-
FAT1 p.Gly77Arg
Uncertain significance
Multiple submitters
FAT1-related disorder
-
FAT1 p.Gly960Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAT1 p.His2123Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAT1 p.His3299Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAT1 p.His809Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAT1 p.His969Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FAT1 p.Ile1073Val Uncertain significance Multiple submitters
-
FAT1 p.Ile1252Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FAT1 p.Ile2004Met Uncertain significance Multiple submitters
-
FAT1 p.Ile2939Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAT1 p.Ile3480Val
Uncertain significance
Multiple submitters
FAT1-related disorder
-
FAT1 p.Ile3722Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAT1 p.Ile4051Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAT1 p.Ile422Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAT1 p.Ile4406Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAT1 p.Ile572Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAT1 p.Leu123Phe
Uncertain significance
Multiple submitters
FAT1-related disorder
-
FAT1 p.Leu4201Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAT1 p.Leu672Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAT1 p.Lys2515Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAT1 p.Lys448Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAT1 p.Lys469Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAT1 p.Met194Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAT1 p.Met3043Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FAT1 p.Pro1416Ser Uncertain significance Multiple submitters
-
FAT1 p.Pro2162Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAT1 p.Pro2388Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FAT1 p.Pro3493Leu Uncertain significance Multiple submitters
-
FAT1 p.Pro3788Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FAT1 p.Ser2338Arg Uncertain significance Multiple submitters
-
FAT1 p.Ser3500Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAT1 p.Ser4391Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAT1 p.Thr1651Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAT1 p.Thr1941Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAT1 p.Thr3031Ala
Uncertain significance
Multiple submitters
FAT1-related disorder
-
FAT1 p.Thr3061Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAT1 p.Thr3339Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAT1 p.Thr771Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAT1 p.Tyr1017Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAT1 p.Tyr3235Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAT1 p.Tyr3580His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAT1 p.Val156Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAT1 p.Val205Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAT1 p.Val2181Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAT1 p.Val2181Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAT1 p.Val2302Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAT1 p.Val2790Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAT1 p.Val2908Ile
Uncertain significance
Multiple submitters
FAT1-related disorder
-
FAT1 p.Val4003Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAT1 p.Val4053Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAT1 p.Val4549Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAT1 p.Val4559Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FAT1 p.Val584Met Uncertain significance Multiple submitters
-
FAT1 p.Val591Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FAT1 p.Ala1047Val Uncertain significance Single submitter
-
FAT1 p.Ala1063Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- FAT1 p.Ala1470Val Uncertain significance Single submitter
-
FAT1 p.Ala1510Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
FAT1 p.Ala169Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
FAT1 p.Ala1768Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
FAT1 p.Ala1778Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- FAT1 p.Ala1799Ser Uncertain significance Single submitter
-
FAT1 p.Ala1910Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
FAT1 p.Ala2192Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
FAT1 p.Ala224Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- FAT1 p.Ala2263Thr Uncertain significance Single submitter
-
FAT1 p.Ala2265Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
FAT1 p.Ala2397Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
FAT1 p.Ala2403Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
FAT1 p.Ala2491Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
FAT1 p.Ala250Thr
Uncertain significance
Single submitter
familial idiopathic steroid-resistant nephrotic syndrome
-
FAT1 p.Ala2623Val
Uncertain significance
Single submitter
Inborn genetic diseases
- FAT1 p.Ala2968Gly Uncertain significance Single submitter
- FAT1 p.Ala3122Thr Uncertain significance Single submitter
-
FAT1 p.Ala3518Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
FAT1 p.Ala3601Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
FAT1 p.Ala362Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
FAT1 p.Ala3648Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
FAT1 p.Ala3778Val
Uncertain significance
Single submitter
Inborn genetic diseases
- FAT1 p.Ala3866Val Uncertain significance Single submitter
-
FAT1 p.Ala3913Thr
Uncertain significance
Single submitter
FAT1-related disorder
-
FAT1 p.Ala4018Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
FAT1 p.Ala4033Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
FAT1 p.Ala4517Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
FAT1 p.Ala467Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
FAT1 p.Ala487Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- FAT1 p.Ala711Thr Uncertain significance Single submitter
-
FAT1 p.Ala755Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
FAT1 p.Arg132Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- FAT1 p.Arg1506Leu Uncertain significance Single submitter
- FAT1 p.Arg1654Leu Uncertain significance Single submitter
-
FAT1 p.Arg191Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- FAT1 p.Arg2027Cys Uncertain significance Single submitter
-
FAT1 p.Arg2027His
Uncertain significance
Single submitter
Inborn genetic diseases
- FAT1 p.Arg2101His Uncertain significance Single submitter
-
FAT1 p.Arg2112Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
FAT1 p.Arg2255His
Uncertain significance
Single submitter
Inborn genetic diseases
- FAT1 p.Arg2454Trp Uncertain significance Single submitter
- FAT1 p.Arg2726Leu Uncertain significance Single submitter
- FAT1 p.Arg3233His Uncertain significance Single submitter
-
FAT1 p.Arg3442Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
FAT1 p.Arg3661His
Uncertain significance
Single submitter
Inborn genetic diseases
-
FAT1 p.Arg3786Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- FAT1 p.Arg4208Trp Uncertain significance Single submitter
-
FAT1 p.Arg4270Gln
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 37
The independent predictors disagree with each other — read with care.
- FAT1 p.Arg1453His Benign Multiple submitters
-
FAT1 p.Arg2597Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FAT1 p.Asn2018Lys Benign/Likely benign Multiple submitters
-
FAT1 p.Glu4274Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FAT1 p.Leu2822Pro Benign/Likely benign Multiple submitters
-
FAT1 p.Phe2549Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAT1 p.Phe3106Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAT1 p.Ala1229Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- FAT1 p.Ala1575Thr Benign Single submitter
-
FAT1 p.Ala608Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
FAT1 p.Arg2022Ser
Uncertain significance
Single submitter
FAT1-related disorder
-
FAT1 p.Arg2986Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- FAT1 p.Arg3646Cys Likely benign Single submitter
- FAT1 p.Arg71Ser Uncertain significance Single submitter
-
FAT1 p.Asn2230Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
FAT1 p.Asp211Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
FAT1 p.Asp768Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- FAT1 p.Glu2401Lys Uncertain significance Single submitter
-
FAT1 p.Glu4274Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
FAT1 p.Gly2097Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
FAT1 p.Gly4035Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
FAT1 p.Gly960Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
FAT1 p.Leu1097Met
Uncertain significance
Single submitter
Inborn genetic diseases
- FAT1 p.Leu292Phe Uncertain significance Single submitter
-
FAT1 p.Lys2571Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- FAT1 p.Lys2924Glu Uncertain significance Single submitter
-
FAT1 p.Phe3747Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- FAT1 p.Phe4199Val Uncertain significance Single submitter
-
FAT1 p.Pro3418Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
FAT1 p.Pro4055Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
FAT1 p.Pro4311Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
FAT1 p.Ser1324Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
FAT1 p.Ser734Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
FAT1 p.Thr174Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
FAT1 p.Thr4066Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
FAT1 p.Tyr2395His
Uncertain significance
Single submitter
Inborn genetic diseases
- FAT1 p.Val553Asp Uncertain significance Single submitter
All FAT1 variants
Pathogenic 23
- p.Ala3518fs Single submitter
- p.Arg1535Ter Single submitter
- p.Arg2556Ter Single submitter
- p.Arg2597Ter Single submitter
- p.Arg3665Ter Single submitter
- p.Asn126fs Single submitter
- p.Gln1537fs Single submitter
- p.Gln2756fs Single submitter focal segmental glomerulosclerosis
- p.Gln2850Ter Single submitter
- p.Gln987Ter Single submitter Inborn genetic diseases
- p.Ile2239fs Single submitter
- p.Leu2146Ter Single submitter
- p.Lys1801fs Single submitter
- p.Lys2650fs Single submitter
- p.Lys3040fs Single submitter
- p.Lys3850fs Single submitter
- p.Met947fs Single submitter Inborn genetic diseases
- p.Phe4227_Leu4228delinsTer Single submitter
- p.Ser1841fs Single submitter
- p.Ser3753fs Single submitter
- p.Trp948Ter Single submitter
- p.Tyr3922fs Single submitter
- p.Tyr4037fs Single submitter
Likely pathogenic 14
- c.10351-597_10412del Single submitter
- c.12369-2A>G Single submitter
- c.13138+1G>A Single submitter syndromic microphthalmia
- c.4599+2T>C Single submitter
- p.Arg2917Ter Single submitter FAT1-related disorder
- p.Glu1518Ter Single submitter FAT1-related disorder
- p.Glu4274Ter Single submitter nephrotic syndrome
- p.Thr867fs Single submitter congenital myasthenic syndrome 12
- p.Tyr1837Ter Single submitter
- p.Ala1003Val No assertion criteria nephrotic syndrome ⚠
- p.Arg1506His No assertion criteria nephrotic syndrome ⚠
- p.Arg3087Gly No assertion criteria nephrotic syndrome
- p.Asn286Ser No assertion criteria nephrotic syndrome ⚠
- p.Met240Ile No assertion criteria plasma cell myeloma
Conflicting classifications of pathogenicity 50
- c.10351-3C>T Single submitter
- c.3265+5A>G Single submitter
- c.4599+6C>T Single submitter
- p.Ala225= Single submitter FAT1-related disorder
- p.Ala3644Thr Single submitter Inborn genetic diseases ⚠
- p.Ala4419Thr Single submitter Inborn genetic diseases ⚠
- p.Ala4471Val Single submitter Inborn genetic diseases ⚠
- p.Ala511Val Single submitter Inborn genetic diseases ⚠
- p.Arg1257Gln Single submitter ⚠
- p.Arg1262Gln Single submitter Inborn genetic diseases ⚠
- p.Arg1654Cys Single submitter Inborn genetic diseases ⚠
- p.Arg1654His Single submitter ⚠
- p.Arg4270Ter Single submitter
- p.Arg902Ser Single submitter Inborn genetic diseases ⚠
- p.Asn3907Ser Single submitter FAT1-related disorder ⚠
- p.Asp1113Asn Single submitter ⚠
- p.Asp2373Gly Single submitter Inborn genetic diseases ⚠
- p.Asp3360Gly Single submitter Inborn genetic diseases ⚠
- p.Glu3507Lys Single submitter Inborn genetic diseases ⚠
- p.Gly1961Ser Single submitter Inborn genetic diseases ⚠
- p.Gly19Ala Single submitter FAT1-related disorder ⚠
- p.Gly2842Ser Single submitter Inborn genetic diseases
- p.Gly321Ser Single submitter Inborn genetic diseases ⚠
- p.His809Arg Single submitter ⚠
- p.Ile1125Leu Single submitter Inborn genetic diseases ⚠
- p.Ile1478Met Single submitter Inborn genetic diseases ⚠
- p.Ile2070Thr Single submitter Inborn genetic diseases ⚠
- p.Ile478Val Single submitter Inborn genetic diseases ⚠
- p.Leu4141Val Single submitter Inborn genetic diseases ⚠
- p.Leu485Val Single submitter Inborn genetic diseases ⚠
- p.Lys2121Glu Single submitter ⚠
- p.Lys2988Ile Single submitter ⚠
- p.Pro3475Arg Single submitter
- p.Thr1179Ser Single submitter Inborn genetic diseases ⚠
- p.Thr2377Met Single submitter autosomal dominant cerebellar ataxia ⚠
- p.Thr3833Ala Single submitter FAT1-related disorder
- p.Tyr212Phe Single submitter ⚠
- p.Val1023Ile Single submitter Inborn genetic diseases ⚠
- p.Val1079Ile Single submitter Inborn genetic diseases ⚠
- p.Val1117Met Single submitter ⚠
- p.Val1446Ile Single submitter Peters anomaly
- p.Val2969Ile Single submitter Inborn genetic diseases ⚠
- p.Val3147Gly Single submitter
- p.Val3656Ile Single submitter ⚠
- p.Val533Ile Single submitter Inborn genetic diseases ⚠
- p.Val553Ile Single submitter Inborn genetic diseases ⚠
- p.Val57Ile Single submitter Inborn genetic diseases ⚠
- p.Val873Met Single submitter Inborn genetic diseases ⚠
- p.Val912Ile Single submitter ⚠
- p.Val945Ile Single submitter Inborn genetic diseases ⚠
Benign 120
- c.10069-136T>C Multiple submitters
- c.10069-138A>G Multiple submitters
- c.10206+24G>A Multiple submitters
- c.10207-105T>C Multiple submitters
- c.11482+96A>G Multiple submitters
- c.11483-142G>A Multiple submitters
- c.11483-209A>G Multiple submitters
- c.12103+15G>T Multiple submitters
- c.12258-30G>A Multiple submitters
- c.12258-34A>G Multiple submitters
- c.13138+188A>T Multiple submitters
- c.3265+124G>A Multiple submitters
- c.3266-115T>A Multiple submitters
- c.3266-40C>T Multiple submitters
- c.3266-4G>C Multiple submitters
- c.3581-143T>C Multiple submitters
- c.3972+97C>T Multiple submitters
- c.4183+31T>A Multiple submitters
- c.4183+59A>G Multiple submitters
- c.4599+60C>T Multiple submitters
- c.4811-57C>G Multiple submitters
- c.8878+23G>A Multiple submitters
- c.9075+128G>T Multiple submitters
- c.9075+26T>C Multiple submitters
- c.9076-90A>G Multiple submitters
- c.9230-46A>G Multiple submitters
- c.9230-46A>T Multiple submitters
- c.-8G>T Multiple submitters
- c.*132C>T Multiple submitters
- c.*254G>A Multiple submitters
- p.Ala131Val Multiple submitters
- p.Ala2968= Multiple submitters
- p.Ala3739Val Multiple submitters
- p.Arg1064Gly Multiple submitters
- p.Arg1268Gln Multiple submitters
- p.Arg1453His Multiple submitters ⚠
- p.Arg26Gln Multiple submitters
- p.Asn1605Asp Multiple submitters
- p.Asn1662Ser Multiple submitters
- p.Asn3121= Multiple submitters
- p.Asn495= Multiple submitters
- p.Asp3117= Multiple submitters
- p.Gln2933Pro Multiple submitters
- p.His1273Arg Multiple submitters
- p.Ile1252= Multiple submitters
- p.Ile2718Val Multiple submitters
- p.Lys4059Asn Multiple submitters
- p.Phe614Leu Multiple submitters
- p.Pro2248= Multiple submitters
- p.Ser2806Asn Multiple submitters
- p.Ser3554Ala Multiple submitters
- p.Ser4367= Multiple submitters
- p.Thr2997= Multiple submitters autosomal dominant cerebellar ataxia
- p.Val3334Ala Multiple submitters
- p.Val482Ile Multiple submitters
- p.Val862Leu Multiple submitters
- c.10068+224A>G Single submitter
- c.10069-10T>C Single submitter
- c.10069-183C>T Single submitter
- c.10350+185C>T Single submitter
- c.10351-182T>A Single submitter
- c.10351-194C>T Single submitter
- c.10351-212T>G Single submitter
- c.10351-213C>A Single submitter
- c.10351-216_10351-214dup Single submitter
- c.10351-222T>C Single submitter
- c.10351-263del Single submitter
- c.10351-274G>T Single submitter
- c.10548+168G>C Single submitter
- c.11482+262T>G Single submitter
- c.11640+311G>C Single submitter
- c.11641-326G>A Single submitter
- c.11641-351C>T Single submitter
- c.12103+149C>T Single submitter
- c.12104-9C>A Single submitter
- c.13001-230G>A Single submitter
- c.13001-316dup Single submitter
- c.13138+318C>T Single submitter
- c.3265+42dup Single submitter
- c.3265+57del Single submitter
- c.3266-235A>G Single submitter
- c.3642+15del Single submitter
- c.3642+15dup Single submitter
- c.3642+63del Single submitter
- c.3643-120del Single submitter
- c.3972+116C>T Single submitter
- c.3972+119_3972+121del Single submitter
- c.3972+139C>T Single submitter
- c.4184-12del Single submitter
- c.4184-12dup Single submitter
- c.4810+160dup Single submitter
- c.8878+10dup Single submitter
- c.9076-267A>G Single submitter
- c.9229+126G>A Single submitter
- c.9229+167G>A Single submitter
- c.9229+176A>G Single submitter
- c.9229+224A>G Single submitter
- c.9229+282A>G Single submitter
- c.9230-193C>A Single submitter
- c.9463+265A>C Single submitter
- c.9464-222C>T Single submitter
- c.9464-224G>A Single submitter
- c.9464-329G>A Single submitter
- c.9464-53del Single submitter
- c.-18-224G>A Single submitter
- c.*15dup Single submitter
- p.Ala1575Thr Single submitter ⚠
- p.Ala3437= Single submitter
- p.Ala3739= Single submitter
- p.Asn3444Ser Single submitter
- p.Gly2825Arg Single submitter
- p.Gly54= Single submitter
- p.Ile1478Val Single submitter
- p.Ile3032Thr Single submitter
- p.Ile879= Single submitter
- p.Phe2390= Single submitter
- p.Pro147= Single submitter
- p.Pro2209= Single submitter
- p.Tyr2350= Single submitter
- p.Val3305= Single submitter
Benign/Likely benign 84
- c.12257+10T>A Multiple submitters
- c.4811-11T>C Multiple submitters
- c.9463+10G>A Multiple submitters
- p.Ala1564Thr Multiple submitters
- p.Ala2166= Multiple submitters
- p.Ala2362= Multiple submitters
- p.Ala3544= Multiple submitters
- p.Ala362= Multiple submitters
- p.Ala4111= Multiple submitters
- p.Ala4166= Multiple submitters
- p.Ala4190= Multiple submitters
- p.Ala4551Gly Multiple submitters
- p.Ala636Thr Multiple submitters
- p.Arg1795Gln Multiple submitters
- p.Arg2567His Multiple submitters
- p.Arg3420= Multiple submitters
- p.Arg933His Multiple submitters
- p.Asn2018Lys Multiple submitters ⚠
- p.Asn2841= Multiple submitters
- p.Asn2951Ser Multiple submitters FAT1-related disorder
- p.Asp2274Glu Multiple submitters
- p.Asp4218Gly Multiple submitters
- p.Gln2933Leu Multiple submitters
- p.Gln4398= Multiple submitters
- p.Glu1292Lys Multiple submitters
- p.Glu378= Multiple submitters
- p.Glu4143= Multiple submitters Inborn genetic diseases
- p.Glu4528Lys Multiple submitters
- p.Gly4110= Multiple submitters
- p.His2203= Multiple submitters
- p.His2453= Multiple submitters
- p.His2530= Multiple submitters
- p.Ile1606= Multiple submitters
- p.Ile247= Multiple submitters
- p.Ile3999= Multiple submitters
- p.Ile946Val Multiple submitters
- p.Ile985= Multiple submitters
- p.Leu2822Pro Multiple submitters ⚠
- p.Leu4062= Multiple submitters
- p.Leu4348Ile Multiple submitters
- p.Leu4496= Multiple submitters
- p.Lys2138= Multiple submitters
- p.Met2845Ile Multiple submitters
- p.Met3586Thr Multiple submitters
- p.Phe330= Multiple submitters
- p.Phe615= Multiple submitters
- p.Pro1304= Multiple submitters
- p.Pro1614Leu Multiple submitters
- p.Pro1882= Multiple submitters
- p.Pro382= Multiple submitters
- p.Pro4174= Multiple submitters
- p.Pro4312= Multiple submitters
- p.Pro4411= Multiple submitters
- p.Pro4453= Multiple submitters
- p.Pro4530= Multiple submitters
- p.Pro721= Multiple submitters
- p.Ser1168Leu Multiple submitters
- p.Ser2353Ala Multiple submitters FAT1-related disorder
- p.Ser3381Gly Multiple submitters
- p.Ser404Arg Multiple submitters
- p.Ser4303= Multiple submitters Inborn genetic diseases
- p.Thr1199= Multiple submitters
- p.Thr1563= Multiple submitters
- p.Thr1585= Multiple submitters
- p.Thr1585Met Multiple submitters
- p.Thr1668= Multiple submitters
- p.Thr1771= Multiple submitters
- p.Thr1993= Multiple submitters
- p.Thr2369Pro Multiple submitters
- p.Thr3150Ala Multiple submitters
- p.Thr3845= Multiple submitters
- p.Thr4012= Multiple submitters
- p.Thr4576Met Multiple submitters
- p.Thr746Ala Multiple submitters
- p.Tyr1250Cys Multiple submitters
- p.Tyr3301His Multiple submitters
- p.Val129Leu Multiple submitters
- p.Val1808= Multiple submitters
- p.Val2566= Multiple submitters
- p.Val3496Ala Multiple submitters
- p.Val3719Met Multiple submitters
- p.Val4189= Multiple submitters
- p.Val679Ile Multiple submitters
- p.Val976= Multiple submitters
Likely benign 519
Showing the top 300 by review status; the full set is in the sitemap.
- c.10548+119T>C Multiple submitters
- c.12104-7G>A Multiple submitters
- c.12368+89T>C Multiple submitters
- c.12369-8C>T Multiple submitters
- c.13138+138A>G Multiple submitters
- c.13138+29G>A Multiple submitters
- c.13138+67T>C Multiple submitters
- c.3973-20C>T Multiple submitters
- c.4184-8C>T Multiple submitters
- c.4599+56C>T Multiple submitters
- c.-17T>C Multiple submitters
- p.Ala1470= Multiple submitters
- p.Ala196= Multiple submitters
- p.Ala1960= Multiple submitters
- p.Ala2046= Multiple submitters
- p.Ala2078= Multiple submitters
- p.Ala2920= Multiple submitters
- p.Ala3359= Multiple submitters
- p.Ala3362= Multiple submitters
- p.Ala3644= Multiple submitters
- p.Ala4358= Multiple submitters
- p.Ala445= Multiple submitters
- p.Arg2354= Multiple submitters
- p.Arg4079= Multiple submitters
- p.Arg881Cys Multiple submitters FAT1-related disorder
- p.Asn181= Multiple submitters
- p.Asn2912= Multiple submitters
- p.Asp1538= Multiple submitters
- p.Asp2222= Multiple submitters
- p.Asp3317Asn Multiple submitters
- p.Asp3519= Multiple submitters
- p.Cys281= Multiple submitters
- p.Gln3524His Multiple submitters Inborn genetic diseases
- p.Glu252Ala Multiple submitters Inborn genetic diseases
- p.Glu4156= Multiple submitters
- p.Glu4574= Multiple submitters
- p.Gly3596= Multiple submitters
- p.Gly4101= Multiple submitters
- p.Gly855Arg Multiple submitters
- p.His2098= Multiple submitters
- p.His2526= Multiple submitters
- p.Ile2718= Multiple submitters
- p.Ile2972Val Multiple submitters Inborn genetic diseases
- p.Ile3726Asn Multiple submitters
- p.Ile713Leu Multiple submitters Inborn genetic diseases
- p.Leu90= Multiple submitters
- p.Met1149Thr Multiple submitters
- p.Pro1372= Multiple submitters Inborn genetic diseases
- p.Pro3542= Multiple submitters
- p.Pro3652= Multiple submitters
- p.Pro820= Multiple submitters
- p.Ser1121= Multiple submitters
- p.Ser4386= Multiple submitters
- p.Ser629= Multiple submitters
- p.Thr105= Multiple submitters
- p.Thr1055Met Multiple submitters
- p.Thr1108= Multiple submitters
- p.Thr1492Ser Multiple submitters
- p.Thr2261Met Multiple submitters
- p.Thr2381= Multiple submitters
- p.Thr2943= Multiple submitters
- p.Thr3133= Multiple submitters
- p.Thr3409= Multiple submitters
- p.Thr3424= Multiple submitters
- p.Thr3940Ala Multiple submitters
- p.Thr944= Multiple submitters
- p.Tyr4540= Multiple submitters
- p.Val1549Met Multiple submitters FAT1-related disorder
- p.Val2066= Multiple submitters
- p.Val295Met Multiple submitters
- p.Val753= Multiple submitters
- c.10068+13_10068+14insA Single submitter
- c.10068+7A>G Single submitter
- c.10069-165G>A Single submitter
- c.10206+68T>A Single submitter
- c.10207-101_10207-100insAC Single submitter
- c.10207-106_10207-105del Single submitter
- c.10207-111_10207-110insGGGCAGGTCCC Single submitter
- c.10350+292dup Single submitter
- c.10351-258C>T Single submitter
- c.10351-6G>A Single submitter
- c.10548+157C>G Single submitter
- c.11482+13T>C Single submitter
- c.11482+180C>A Single submitter
- c.11482+199G>A Single submitter
- c.11482+19G>A Single submitter
- c.11483-143C>T Single submitter
- c.11483-18C>A Single submitter
- c.11483-322A>G Single submitter
- c.11483-7T>G Single submitter
- c.11640+17C>T Single submitter
- c.11640+18G>A Single submitter
- c.11641-8T>C Single submitter
- c.12103+125G>A Single submitter
- c.12103+158G>A Single submitter
- c.12103+9C>T Single submitter
- c.12104-8C>T Single submitter
- c.12104-98A>C Single submitter
- c.12104-9C>G Single submitter
- c.12257+67A>G Single submitter
- c.12257+9A>T Single submitter
- c.12258-10T>A Single submitter
- c.12368+7G>A Single submitter
- c.12369-105C>A Single submitter
- c.12369-18T>G Single submitter
- c.13001-14A>G Single submitter
- c.13001-9T>G Single submitter
- c.13138+3G>T Single submitter
- c.13138+73C>T Single submitter
- c.13139-183G>C Single submitter
- c.13139-19T>C Single submitter
- c.3266-74G>A Single submitter
- c.3580+16G>A Single submitter
- c.3580+19A>C Single submitter
- c.3580+92_3580+93del Single submitter
- c.3581-16T>C Single submitter
- c.3581-20G>T Single submitter
- c.3642+275C>T Single submitter
- c.3643-16A>G Single submitter
- c.3643-19G>A Single submitter
- c.3972+43C>T Single submitter
- c.4183+8T>A Single submitter
- c.4184-12T>C Single submitter
- c.4323+17T>A Single submitter
- c.4323+301C>T Single submitter
- c.4323+49G>A Single submitter
- c.4599+14C>G Single submitter
- c.4599+16G>A Single submitter
- c.4600-25T>C Single submitter
- c.8878+19A>G Single submitter
- c.8878+8A>G Single submitter
- c.8879-13A>G Single submitter
- c.9075+18T>C Single submitter
- c.9075+20C>T Single submitter
- c.9229+18G>A Single submitter
- c.9229+270del Single submitter
- c.9230-20C>T Single submitter
- c.9463+14A>G Single submitter
- c.9463+7C>T Single submitter
- c.9464-6T>C Single submitter
- c.9853+20A>T Single submitter
- c.9853+212C>A Single submitter
- c.9854-200T>G Single submitter
- c.*142C>T Single submitter
- p.Ala106= Single submitter
- p.Ala131= Single submitter
- p.Ala1559Thr Single submitter
- p.Ala1709= Single submitter
- p.Ala1762= Single submitter
- p.Ala1762Thr Single submitter
- p.Ala1995= Single submitter
- p.Ala225Val Single submitter Inborn genetic diseases
- p.Ala2295= Single submitter
- p.Ala2560= Single submitter
- p.Ala2623= Single submitter
- p.Ala3127= Single submitter
- p.Ala3866= Single submitter
- p.Ala3871= Single submitter
- p.Ala4165= Single submitter
- p.Ala4180= Single submitter
- p.Ala4224Thr Single submitter
- p.Ala4300= Single submitter
- p.Ala4529Val Single submitter Inborn genetic diseases
- p.Ala467Ser Single submitter
- p.Ala636= Single submitter
- p.Ala804= Single submitter
- p.Arg2021= Single submitter
- p.Arg2473= Single submitter
- p.Arg2567Cys Single submitter Inborn genetic diseases
- p.Arg2726Gln Single submitter Inborn genetic diseases
- p.Arg2827= Single submitter
- p.Arg2986= Single submitter
- p.Arg2989Lys Single submitter Inborn genetic diseases
- p.Arg3= Single submitter
- p.Arg3646Cys Single submitter ⚠
- p.Arg3674= Single submitter
- p.Arg399= Single submitter
- p.Arg4481Trp Single submitter
- p.Arg628Gln Single submitter Inborn genetic diseases
- p.Arg806= Single submitter
- p.Arg937= Single submitter
- p.Asn1424= Single submitter
- p.Asn1662= Single submitter
- p.Asn1761= Single submitter
- p.Asn2077= Single submitter
- p.Asn2277= Single submitter
- p.Asn2495= Single submitter
- p.Asn3119= Single submitter
- p.Asn3175= Single submitter
- p.Asn3436= Single submitter
- p.Asn3472= Single submitter
- p.Asn3676= Single submitter
- p.Asn3732= Single submitter
- p.Asn3919= Single submitter
- p.Asn40= Single submitter
- p.Asn4071= Single submitter
- p.Asn475= Single submitter
- p.Asn563= Single submitter
- p.Asn671= Single submitter
- p.Asn854= Single submitter
- p.Asp1062= Single submitter
- p.Asp177= Single submitter
- p.Asp1907= Single submitter
- p.Asp2158= Single submitter
- p.Asp2220= Single submitter
- p.Asp2274= Single submitter
- p.Asp2275= Single submitter
- p.Asp2379= Single submitter
- p.Asp2630Asn Single submitter Inborn genetic diseases
- p.Asp3035= Single submitter
- p.Asp3049= Single submitter
- p.Asp3153= Single submitter
- p.Asp3363= Single submitter
- p.Asp3485= Single submitter
- p.Asp3606= Single submitter
- p.Asp3693= Single submitter
- p.Asp370= Single submitter
- p.Asp4129= Single submitter
- p.Asp4377= Single submitter
- p.Asp4569= Single submitter
- p.Asp850= Single submitter
- p.Cys2411= Single submitter
- p.Cys4017= Single submitter
- p.Cys4022= Single submitter
- p.Cys4376= Single submitter
- p.Cys4512= Single submitter
- p.Cys4546= Single submitter
- p.Cys4553= Single submitter
- p.Gln1694= Single submitter
- p.Gln2352= Single submitter
- p.Gln249= Single submitter
- p.Gln2699Glu Single submitter Inborn genetic diseases
- p.Gln2843= Single submitter
- p.Gln301= Single submitter
- p.Gln337= Single submitter
- p.Gln3609= Single submitter
- p.Gln3636= Single submitter
- p.Gln4488= Single submitter
- p.Gln689= Single submitter
- p.Gln987= Single submitter
- p.Glu1141Asp Single submitter
- p.Glu1383= Single submitter
- p.Glu1518= Single submitter
- p.Glu1573Gln Single submitter
- p.Glu1996= Single submitter
- p.Glu2266= Single submitter
- p.Glu2544= Single submitter
- p.Glu2763= Single submitter
- p.Glu3116= Single submitter
- p.Glu3654= Single submitter
- p.Glu4404= Single submitter
- p.Gly1041= Single submitter
- p.Gly1827= Single submitter
- p.Gly2036= Single submitter
- p.Gly2111= Single submitter
- p.Gly2130= Single submitter
- p.Gly2262= Single submitter
- p.Gly2519Glu Single submitter Inborn genetic diseases
- p.Gly2653= Single submitter
- p.Gly2731= Single submitter
- p.Gly3001= Single submitter
- p.Gly3103= Single submitter
- p.Gly3608= Single submitter
- p.Gly4118= Single submitter
- p.Gly576= Single submitter
- p.Gly798= Single submitter
- p.His1528= Single submitter
- p.His2126Tyr Single submitter Inborn genetic diseases
- p.His2402= Single submitter
- p.His2455= Single submitter
- p.His354= Single submitter
- p.His3792= Single submitter
- p.His3814= Single submitter
- p.His3912= Single submitter
- p.His838Asn Single submitter Inborn genetic diseases
- p.His856= Single submitter
- p.His952= Single submitter
- p.His969= Single submitter
- p.Ile1084Met Single submitter
- p.Ile1148Val Single submitter Inborn genetic diseases
- p.Ile1291= Single submitter
- p.Ile1302= Single submitter
- p.Ile1465= Single submitter
- p.Ile1923= Single submitter
- p.Ile2169= Single submitter
- p.Ile2631= Single submitter
- p.Ile2725= Single submitter
- p.Ile2778Val Single submitter Inborn genetic diseases
- p.Ile3243Val Single submitter Inborn genetic diseases
- p.Ile3328= Single submitter
- p.Ile3730Met Single submitter Inborn genetic diseases
- p.Ile870= Single submitter
- p.Ile89Val Single submitter Inborn genetic diseases
- p.Leu1489= Single submitter
- p.Leu1530= Single submitter
- p.Leu1598= Single submitter
- p.Leu1835= Single submitter
- p.Leu213= Single submitter
- p.Leu2137= Single submitter
- p.Leu223= Single submitter
Uncertain significance 976
Showing the top 300 by review status; the full set is in the sitemap.
- p.Ala1663Thr Multiple submitters Inborn genetic diseases
- p.Ala1762Val Multiple submitters ⚠
- p.Ala1862Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ala2046Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala2456Thr Multiple submitters ⚠
- p.Ala2502Asp Multiple submitters Inborn genetic diseases ⚠
- p.Ala3007Val Multiple submitters Inborn genetic diseases
- p.Ala3437Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala3913Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ala4042Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ala4224Gly Multiple submitters Inborn genetic diseases ⚠
- p.Ala4471Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala647Val Multiple submitters Inborn genetic diseases
- p.Ala804Val Multiple submitters Inborn genetic diseases
- p.Arg1332His Multiple submitters Inborn genetic diseases ⚠
- p.Arg1506Cys Multiple submitters
- p.Arg1856His Multiple submitters Inborn genetic diseases
- p.Arg1947Cys Multiple submitters Inborn genetic diseases
- p.Arg2021Cys Multiple submitters ⚠
- p.Arg2041His Multiple submitters Inborn genetic diseases
- p.Arg227Cys Multiple submitters Inborn genetic diseases
- p.Arg227His Multiple submitters Inborn genetic diseases
- p.Arg2597Pro Multiple submitters Inborn genetic diseases ⚠
- p.Arg3233Cys Multiple submitters ⚠
- p.Arg3505Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg3646His Multiple submitters Inborn genetic diseases
- p.Arg3773His Multiple submitters Inborn genetic diseases ⚠
- p.Arg3957His Multiple submitters Inborn genetic diseases
- p.Arg4208Gln Multiple submitters ⚠
- p.Arg548His Multiple submitters
- p.Arg806His Multiple submitters FAT1-related disorder ⚠
- p.Asn1133Ser Multiple submitters Inborn genetic diseases
- p.Asn1220Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn1284Ser Multiple submitters Inborn genetic diseases
- p.Asn1330Ser Multiple submitters Inborn genetic diseases
- p.Asn2009Ser Multiple submitters
- p.Asn2543Asp Multiple submitters Inborn genetic diseases ⚠
- p.Asn2590Ser Multiple submitters
- p.Asn2666Ser Multiple submitters FAT1-related disorder ⚠
- p.Asn3055Asp Multiple submitters Inborn genetic diseases
- p.Asn4402Thr Multiple submitters Inborn genetic diseases ⚠
- p.Asn4492Lys Multiple submitters ⚠
- p.Asn710Ser Multiple submitters FAT1-related disorder
- p.Asn749His Multiple submitters FAT1-related disorder
- p.Asn749Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asp1060His Multiple submitters Inborn genetic diseases ⚠
- p.Asp1066Asn Multiple submitters Inborn genetic diseases
- p.Asp1787Gly Multiple submitters Inborn genetic diseases ⚠
- p.Asp1930His Multiple submitters FAT1-related disorder
- p.Asp1956Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp3128Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp3399Asn Multiple submitters Inborn genetic diseases
- p.Asp3626Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Asp3749Glu Multiple submitters Inborn genetic diseases ⚠
- p.Asp4467Asn Multiple submitters Inborn genetic diseases ⚠
- p.Cys1875Trp Multiple submitters Inborn genetic diseases
- p.Cys4553Arg Multiple submitters Inborn genetic diseases
- p.Gln2775Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gln3044Lys Multiple submitters
- p.Gln346Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gln3494Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gln359Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gln3679Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gln4023Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gln958His Multiple submitters FAT1-related disorder ⚠
- p.Glu1354Gly Multiple submitters Inborn genetic diseases ⚠
- p.Glu1769Gly Multiple submitters FAT1-related disorder ⚠
- p.Glu214Asp Multiple submitters Inborn genetic diseases ⚠
- p.Glu3852Asp Multiple submitters ⚠
- p.Glu38Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu4000Lys Multiple submitters Inborn genetic diseases
- p.Glu4096Asp Multiple submitters ⚠
- p.Glu4156Lys Multiple submitters Inborn genetic diseases
- p.Glu4274Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu4290Lys Multiple submitters Inborn genetic diseases
- p.Glu825Asp Multiple submitters Inborn genetic diseases ⚠
- p.Gly182Arg Multiple submitters autosomal dominant cerebellar ataxia
- p.Gly1957Ser Multiple submitters
- p.Gly2653Ser Multiple submitters ⚠
- p.Gly3473Ser Multiple submitters Inborn genetic diseases
- p.Gly3920Arg Multiple submitters Inborn genetic diseases
- p.Gly3960Arg Multiple submitters Inborn genetic diseases
- p.Gly77Arg Multiple submitters FAT1-related disorder ⚠
- p.Gly960Ala Multiple submitters Inborn genetic diseases ⚠
- p.His2123Leu Multiple submitters Inborn genetic diseases ⚠
- p.His3299Tyr Multiple submitters Inborn genetic diseases ⚠
- p.His809Tyr Multiple submitters Inborn genetic diseases ⚠
- p.His891Asp Multiple submitters FAT1-related disorder
- p.His969Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ile1073Val Multiple submitters ⚠
- p.Ile1252Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile1393Val Multiple submitters
- p.Ile1478Thr Multiple submitters
- p.Ile2004Met Multiple submitters ⚠
- p.Ile2229Met Multiple submitters Inborn genetic diseases
- p.Ile2939Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile3374Val Multiple submitters
- p.Ile3480Val Multiple submitters FAT1-related disorder ⚠
- p.Ile3567Met Multiple submitters Inborn genetic diseases
- p.Ile3722Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ile3881Leu Multiple submitters FAT1-related disorder
- p.Ile4051Met Multiple submitters Inborn genetic diseases ⚠
- p.Ile422Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile4397Leu Multiple submitters Inborn genetic diseases
- p.Ile4406Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ile572Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu123Phe Multiple submitters FAT1-related disorder ⚠
- p.Leu1944Ser Multiple submitters Inborn genetic diseases
- p.Leu3781Pro Multiple submitters Inborn genetic diseases
- p.Leu419Val Multiple submitters Inborn genetic diseases
- p.Leu4201Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu630Pro Multiple submitters FAT1-related disorder
- p.Leu672Phe Multiple submitters Inborn genetic diseases ⚠
- p.Lys2515Gln Multiple submitters Inborn genetic diseases ⚠
- p.Lys448Thr Multiple submitters Inborn genetic diseases ⚠
- p.Lys469Thr Multiple submitters Inborn genetic diseases ⚠
- p.Met194Thr Multiple submitters Inborn genetic diseases ⚠
- p.Met3043Val Multiple submitters Inborn genetic diseases ⚠
- p.Phe2549Leu Multiple submitters Inborn genetic diseases ⚠
- p.Phe3106Leu Multiple submitters Inborn genetic diseases ⚠
- p.Phe3823Leu Multiple submitters Inborn genetic diseases
- p.Pro1283Leu Multiple submitters
- p.Pro1416Ser Multiple submitters ⚠
- p.Pro2162Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro2171Leu Multiple submitters
- p.Pro2248Leu Multiple submitters Inborn genetic diseases
- p.Pro2388Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro2823Leu Multiple submitters Inborn genetic diseases
- p.Pro344Ser Multiple submitters Inborn genetic diseases
- p.Pro3493Leu Multiple submitters ⚠
- p.Pro3788Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro4395Leu Multiple submitters Inborn genetic diseases
- p.Pro721Leu Multiple submitters Inborn genetic diseases
- p.Ser1170Cys Multiple submitters Inborn genetic diseases
- p.Ser1311Phe Multiple submitters Inborn genetic diseases
- p.Ser2338Arg Multiple submitters ⚠
- p.Ser3500Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ser4391Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ser621Leu Multiple submitters Inborn genetic diseases
- p.Thr1093Met Multiple submitters Inborn genetic diseases
- p.Thr1651Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr1941Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr3031Ala Multiple submitters FAT1-related disorder ⚠
- p.Thr3061Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr3339Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr3409Met Multiple submitters Inborn genetic diseases
- p.Thr771Ala Multiple submitters Inborn genetic diseases ⚠
- p.Tyr1017Cys Multiple submitters Inborn genetic diseases ⚠
- p.Tyr3195Asn Multiple submitters
- p.Tyr3235Cys Multiple submitters Inborn genetic diseases ⚠
- p.Tyr3580His Multiple submitters Inborn genetic diseases ⚠
- p.Val1274Ile Multiple submitters
- p.Val156Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val205Met Multiple submitters Inborn genetic diseases ⚠
- p.Val2181Ala Multiple submitters Inborn genetic diseases ⚠
- p.Val2181Met Multiple submitters Inborn genetic diseases ⚠
- p.Val2302Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val2790Ala Multiple submitters Inborn genetic diseases ⚠
- p.Val2908Ile Multiple submitters FAT1-related disorder ⚠
- p.Val3459Met Multiple submitters
- p.Val4003Ala Multiple submitters Inborn genetic diseases ⚠
- p.Val4053Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val4549Met Multiple submitters Inborn genetic diseases ⚠
- p.Val4559Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val584Met Multiple submitters ⚠
- p.Val591Ile Multiple submitters Inborn genetic diseases ⚠
- c.12103+5G>T Single submitter
- c.9075+5G>A Single submitter
- c.-19+1G>T Single submitter nephrotic syndrome
- p.Ala1047Val Single submitter ⚠
- p.Ala1063Pro Single submitter Inborn genetic diseases ⚠
- p.Ala1229Glu Single submitter Inborn genetic diseases ⚠
- p.Ala1414Thr Single submitter
- p.Ala1470Val Single submitter ⚠
- p.Ala1510Val Single submitter Inborn genetic diseases ⚠
- p.Ala169Thr Single submitter Inborn genetic diseases ⚠
- p.Ala1768Val Single submitter Inborn genetic diseases ⚠
- p.Ala1778Thr Single submitter Inborn genetic diseases ⚠
- p.Ala1799Ser Single submitter ⚠
- p.Ala1859Gly Single submitter
- p.Ala1863Val Single submitter
- p.Ala1910Val Single submitter Inborn genetic diseases ⚠
- p.Ala1986Val Single submitter Inborn genetic diseases
- p.Ala2178Val Single submitter Inborn genetic diseases
- p.Ala2192Gly Single submitter Inborn genetic diseases ⚠
- p.Ala2249Pro Single submitter Inborn genetic diseases
- p.Ala224Thr Single submitter Inborn genetic diseases ⚠
- p.Ala2263Asp Single submitter Inborn genetic diseases
- p.Ala2263Ser Single submitter
- p.Ala2263Thr Single submitter ⚠
- p.Ala2265Gly Single submitter Inborn genetic diseases ⚠
- p.Ala2397Gly Single submitter Inborn genetic diseases ⚠
- p.Ala2403Thr Single submitter Inborn genetic diseases ⚠
- p.Ala2414Gly Single submitter
- p.Ala2491Ser Single submitter Inborn genetic diseases ⚠
- p.Ala250Thr Single submitter familial idiopathic steroid-resistant nephrotic syndrome ⚠
- p.Ala2623Val Single submitter Inborn genetic diseases ⚠
- p.Ala2629Gly Single submitter Inborn genetic diseases
- p.Ala2833Val Single submitter Inborn genetic diseases
- p.Ala2889Val Single submitter
- p.Ala2968Gly Single submitter ⚠
- p.Ala3047Thr Single submitter Inborn genetic diseases
- p.Ala3050Val Single submitter Inborn genetic diseases
- p.Ala3122Thr Single submitter ⚠
- p.Ala3193Glu Single submitter Inborn genetic diseases
- p.Ala3201Thr Single submitter Inborn genetic diseases
- p.Ala338Val Single submitter
- p.Ala3437Val Single submitter FAT1-related disorder
- p.Ala3518Thr Single submitter Inborn genetic diseases ⚠
- p.Ala3601Thr Single submitter Inborn genetic diseases ⚠
- p.Ala362Pro Single submitter Inborn genetic diseases ⚠
- p.Ala3648Val Single submitter Inborn genetic diseases ⚠
- p.Ala3778Val Single submitter Inborn genetic diseases ⚠
- p.Ala380Val Single submitter Inborn genetic diseases
- p.Ala3866Val Single submitter ⚠
- p.Ala3913Thr Single submitter FAT1-related disorder ⚠
- p.Ala4018Thr Single submitter Inborn genetic diseases ⚠
- p.Ala4033Pro Single submitter Inborn genetic diseases ⚠
- p.Ala4111Thr Single submitter FAT1-related disorder
- p.Ala445Val Single submitter Inborn genetic diseases
- p.Ala4517Asp Single submitter Inborn genetic diseases ⚠
- p.Ala4544Thr Single submitter Inborn genetic diseases
- p.Ala467Val Single submitter Inborn genetic diseases ⚠
- p.Ala487Thr Single submitter Inborn genetic diseases ⚠
- p.Ala608Pro Single submitter Inborn genetic diseases ⚠
- p.Ala67= Single submitter
- p.Ala711Thr Single submitter ⚠
- p.Ala755Val Single submitter Inborn genetic diseases ⚠
- p.Arg1257Leu Single submitter
- p.Arg1268Trp Single submitter
- p.Arg132Leu Single submitter Inborn genetic diseases ⚠
- p.Arg1506Leu Single submitter ⚠
- p.Arg1654Leu Single submitter ⚠
- p.Arg1856Cys Single submitter Inborn genetic diseases
- p.Arg191Gln Single submitter Inborn genetic diseases ⚠
- p.Arg1947Leu Single submitter
- p.Arg2022Ser Single submitter FAT1-related disorder ⚠
- p.Arg2027Cys Single submitter ⚠
- p.Arg2027His Single submitter Inborn genetic diseases ⚠
- p.Arg2101His Single submitter ⚠
- p.Arg2112Gly Single submitter Inborn genetic diseases ⚠
- p.Arg2255Cys Single submitter Inborn genetic diseases
- p.Arg2255His Single submitter Inborn genetic diseases ⚠
- p.Arg2454Trp Single submitter ⚠
- p.Arg2726Leu Single submitter ⚠
- p.Arg2986Lys Single submitter Inborn genetic diseases ⚠
- p.Arg3087His Single submitter
- p.Arg3233His Single submitter ⚠
- p.Arg3257Trp Single submitter
- p.Arg3442Met Single submitter Inborn genetic diseases ⚠
- p.Arg3534_Val3535insTer Single submitter
- p.Arg3661His Single submitter Inborn genetic diseases ⚠
- p.Arg3668Gln Single submitter Inborn genetic diseases
- p.Arg3668Leu Single submitter FAT1-related disorder
- p.Arg3668Trp Single submitter
- p.Arg3674Ser Single submitter
- p.Arg3773Cys Single submitter Inborn genetic diseases
- p.Arg3786Gly Single submitter Inborn genetic diseases ⚠
- p.Arg3872Gln Single submitter Inborn genetic diseases
- p.Arg3924Cys Single submitter Inborn genetic diseases
- p.Arg3924Leu Single submitter
- p.Arg4160Cys Single submitter Inborn genetic diseases
- p.Arg4160His Single submitter Inborn genetic diseases
- p.Arg4203Gly Single submitter Inborn genetic diseases
- p.Arg4203His Single submitter Inborn genetic diseases
- p.Arg4208Trp Single submitter ⚠
- p.Arg4270Gln Single submitter Inborn genetic diseases ⚠
- p.Arg4359Gln Single submitter Inborn genetic diseases
- p.Arg4513Gly Single submitter Inborn genetic diseases ⚠
- p.Arg549Gly Single submitter
- p.Arg580Gly Single submitter Inborn genetic diseases
- p.Arg580Ile Single submitter ⚠
- p.Arg71Ser Single submitter ⚠
- p.Arg782Cys Single submitter Inborn genetic diseases
- p.Arg806Cys Single submitter Inborn genetic diseases ⚠
- p.Arg881His Single submitter ⚠
- p.Arg885Leu Single submitter Inborn genetic diseases
- p.Arg898Gly Single submitter
- p.Arg898Lys Single submitter ⚠
- p.Arg898Ser Single submitter Inborn genetic diseases
- p.Arg933Leu Single submitter ⚠
- p.Asn1151Ser Single submitter Inborn genetic diseases ⚠
- p.Asn1220Asp Single submitter ⚠
- p.Asn1265Asp Single submitter Inborn genetic diseases ⚠
- p.Asn1397Ser Single submitter ⚠
- p.Asn1748Asp Single submitter Inborn genetic diseases ⚠
- p.Asn1922Ser Single submitter Inborn genetic diseases
- p.Asn2176Ser Single submitter Inborn genetic diseases
- p.Asn2230Lys Single submitter Inborn genetic diseases ⚠
- p.Asn2277Lys Single submitter
- p.Asn2277Ser Single submitter Inborn genetic diseases
- p.Asn2464His Single submitter ⚠
- p.Asn2504Thr Single submitter Inborn genetic diseases
- p.Asn2666Asp Single submitter Inborn genetic diseases ⚠
- p.Asn2841Ser Single submitter Inborn genetic diseases
- p.Asn2863Ser Single submitter Inborn genetic diseases ⚠
- p.Asn3157Lys Single submitter Inborn genetic diseases
- p.Asn3452His Single submitter
- p.Asn3732Ser Single submitter ⚠
- p.Asn383Lys Single submitter Inborn genetic diseases ⚠