A total 83 pathogenic variants reported in gene FAT atypical cadherin 1 (FAT1)  
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_005245.4(FAT1):c.4336G>A (p.Val1446Ile) SNV
Germline
Chr4:186628751 Conflicting classifications of pathogenicity Irido-corneo-trabecular dysgenesis
Anophthalmia-microphthalmia syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA072793 rs_200828005

2 SubmittersRCV000207426RCV001853287

NM_005245.4(FAT1):c.9259C>G (p.Arg3087Gly) SNV
Germline
Chr4:186613313 Likely pathogenic Nephrotic syndrome No Assertion Criteria Provided
CA358957305 rs_375998390

1 SubmittersRCV000845129

NM_005245.4(FAT1):c.4517G>A (p.Arg1506His) SNV
Germline
Chr4:186628570 Likely pathogenic Nephrotic syndrome No Assertion Criteria Provided
CA3166698 rs_570583897

1 SubmittersRCV000845128

NM_005245.4(FAT1):c.3008C>T (p.Ala1003Val) SNV
Germline
Chr4:186706820 Likely pathogenic Nephrotic syndrome No Assertion Criteria Provided
CA3167131 rs_369363545

1 SubmittersRCV000845127

NM_005245.4(FAT1):c.857A>G (p.Asn286Ser) SNV
Germline
Chr4:186708971 Likely pathogenic Nephrotic syndrome No Assertion Criteria Provided
CA3167578 rs_201488687

1 SubmittersRCV000845126

NM_005245.4(FAT1):c.3373A>C (p.Ile1125Leu) SNV
Germline
Chr4:186663506 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
FAT1-related disorder
Criteria Provided
Conflicting Classifications
CA3167025 rs_56007012

4 SubmittersRCV000958937RCV002547265RCV004553431

NM_005245.4(FAT1):c.13174G>A (p.Val4392Ile) SNV
Germline
Chr4:186589185 Conflicting classifications of pathogenicity Condition: not provided
FAT1-related disorder
Criteria Provided
Conflicting Classifications
CA3164594 rs_192910004

3 SubmittersRCV000894328RCV004551676

NM_005245.4(FAT1):c.10966G>A (p.Val3656Ile) SNV
Germline
Chr4:186603560 Conflicting classifications of pathogenicity Condition: not provided
FAT1-related disorder
Criteria Provided
Conflicting Classifications
CA3165214 rs_192691397

3 SubmittersRCV000884534RCV004550024

NM_005245.4(FAT1):c.9440T>G (p.Val3147Gly) SNV
Germline
Chr4:186613132 Conflicting classifications of pathogenicity Condition: not provided
FAT1-related disorder
Criteria Provided
Conflicting Classifications
CA3165629 rs_188733415

6 SubmittersRCV000879063RCV004550003

NM_005245.4(FAT1):c.169G>A (p.Val57Ile) SNV
Germline
Chr4:186709659 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3167711 rs_201854030

2 SubmittersRCV000901406RCV004028513

NM_005245.4(FAT1):c.720G>A (p.Met240Ile) SNV
Somatic
Chr4:186709108 Likely pathogenic Multiple myeloma No Assertion Criteria Provided
CA358990663 rs_1579491104

1 SubmittersRCV000984107

NM_005245.4(FAT1):c.4599+6C>T SNV
Germline
Chr4:186628482 Conflicting classifications of pathogenicity Condition: not provided
FAT1-related disorder
Criteria Provided
Conflicting Classifications
CA3166680 rs_201798649

4 SubmittersRCV000998333RCV004738113

NM_005245.4(FAT1):c.2706A>C (p.Arg902Ser) SNV
Germline
Chr4:186707122 Conflicting classifications of pathogenicity Condition: not provided
FAT1-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3167198 rs_555992573

4 SubmittersRCV000998334RCV004553541RCV004619477

NM_005245.4(FAT1):c.5511T>G (p.Tyr1837Ter) SNV
Germline
Chr4:186621075 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
CA358972343 rs_1740022320

1 SubmittersRCV001200463

NM_005245.4(FAT1):c.2844G>A (p.Trp948Ter) SNV
Germline
Chr4:186706984 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA358985283 rs_1744650400

1 SubmittersRCV001210086

NM_005245.4(FAT1):c.3349G>A (p.Val1117Met) SNV
Germline
Chr4:186663530 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
CA3167034 rs_149295542

3 SubmittersRCV001356376

NM_005245.4(FAT1):c.2734G>A (p.Val912Ile) SNV
Germline
Chr4:186707094 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
CA3167188 rs_200097846

4 SubmittersRCV001702145

NM_005245.4(FAT1):c.12808C>T (p.Arg4270Ter) SNV
Germline
Chr4:186596732 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
CA3164741 rs_373689624

2 SubmittersRCV001727306

NM_005245.4(FAT1):c.12820G>T (p.Glu4274Ter) SNV
Germline
Chr4:186596720 Likely pathogenic Nephrotic syndrome Criteria Provided
Single Submitter
CA358965905 rs_983524169

1 SubmittersRCV001732813

NM_005245.4(FAT1):c.11720A>G (p.Asn3907Ser) SNV
Germline
Chr4:186600281 Conflicting classifications of pathogenicity Condition: not provided
FAT1-related disorder
Familial pancreatic carcinoma
Criteria Provided
Conflicting Classifications
CA3165026 rs_200662687

4 SubmittersRCV001757903RCV005396984RCV005920706

NM_005245.4(FAT1):c.11497A>G (p.Thr3833Ala) SNV
Germline
Chr4:186601412 Conflicting classifications of pathogenicity Condition: not provided
FAT1-related disorder
Criteria Provided
Conflicting Classifications
CA3165077 rs_201279606

3 SubmittersRCV001767852RCV004552007

NM_005245.4(FAT1):c.10930G>A (p.Ala3644Thr) SNV
Germline
Chr4:186603596 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
FAT1-related disorder
Criteria Provided
Conflicting Classifications
CA3165225 rs_199663111

5 SubmittersRCV001772929RCV002540553RCV004552013

NM_005245.4(FAT1):c.4552G>T (p.Glu1518Ter) SNV
Germline
Chr4:186628535 Likely pathogenic FAT1-related disorder Criteria Provided
Single Submitter
CA358980166 rs_2126544181

1 SubmittersRCV001807884

NM_005245.4(FAT1):c.10590C>G (p.Tyr3530Ter) SNV
Germline
Chr4:186603936 Likely pathogenic FAT1-related disorder Criteria Provided
Single Submitter
CA358977018 rs_751163127

1 SubmittersRCV001808202

NM_005245.4(FAT1):c.3067G>A (p.Val1023Ile) SNV
Germline
Chr4:186706761 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3167120 rs_200468967

3 SubmittersRCV001946327RCV003167379

NM_005245.4(FAT1):c.3535A>T (p.Thr1179Ser) SNV
Germline
Chr4:186663344 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
FAT1-related disorder
Criteria Provided
Conflicting Classifications
CA3166998 rs_200917026

5 SubmittersRCV002211691RCV005574880RCV004553673

NM_005245.4(FAT1):c.635A>T (p.Tyr212Phe) SNV
Germline
Chr4:186709193 Conflicting classifications of pathogenicity Condition: not provided
FAT1-related disorder
Criteria Provided
Conflicting Classifications
CA3167630 rs_61747592

3 SubmittersRCV002209747RCV004553678

NM_005245.4(FAT1):c.56G>C (p.Gly19Ala) SNV
Germline
Chr4:186709772 Conflicting classifications of pathogenicity Condition: not provided
FAT1-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3167738 rs_200192750

6 SubmittersRCV002124337RCV004553807RCV004973339

NM_005245.4(FAT1):c.3770G>A (p.Arg1257Gln) SNV
Germline
Chr4:186636787 Conflicting classifications of pathogenicity not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA3166914 rs_188188069

2 SubmittersRCV002248209RCV005095812

NM_005245.4(FAT1):c.12421C>G (p.Leu4141Val) SNV
Germline
Chr4:186597119 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3164817 rs_375994752

3 SubmittersRCV002285889RCV004973401

NM_005245.4(FAT1):c.10424C>G (p.Pro3475Arg) SNV
Germline
Chr4:186604501 Conflicting classifications of pathogenicity Condition: not provided
FAT1-related disorder
Criteria Provided
Conflicting Classifications
CA3165362 rs_200717236

4 SubmittersRCV002288062RCV004548261

NM_005245.4(FAT1):c.8524G>A (p.Gly2842Ser) SNV
Germline
Chr4:186618062 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3165868 rs_149417595

3 SubmittersRCV002462401RCV004067530

NM_005245.4(FAT1):c.4434C>G (p.Ile1478Met) SNV
Germline
Chr4:186628653 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3166711 rs_376344008

3 SubmittersRCV002467282RCV005343417

NM_005245.4(FAT1):c.10079A>G (p.Asp3360Gly) SNV
Germline
Chr4:186609310 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
FAT1-related disorder
Criteria Provided
Conflicting Classifications
CA3165478 rs_201113097

3 SubmittersRCV003060416RCV003060415RCV004550366

NM_005245.4(FAT1):c.10519G>A (p.Glu3507Lys) SNV
Germline
Chr4:186604406 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
FAT1-related disorder
Criteria Provided
Conflicting Classifications
CA3165340 rs_201158459

3 SubmittersRCV003092700RCV003161782RCV004550396

NM_005245.4(FAT1):c.961G>A (p.Gly321Ser) SNV
Germline
Chr4:186708867 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3167559 rs_374843828

2 SubmittersRCV002582044RCV005567414

NM_005245.4(FAT1):c.6209T>C (p.Ile2070Thr) SNV
Germline
Chr4:186620377 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA112156808 rs_1021583788

2 SubmittersRCV002628354RCV004978699

NM_005245.4(FAT1):c.8905G>A (p.Val2969Ile) SNV
Germline
Chr4:186617175 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3165782 rs_752874782

2 SubmittersRCV002612798RCV004973484

NM_005245.4(FAT1):c.7789C>T (p.Arg2597Ter) SNV
Germline
Chr4:186618797 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA3166002 rs_777631605

1 SubmittersRCV002642752

NM_005245.4(FAT1):c.1597G>A (p.Val533Ile) SNV
Germline
Chr4:186708231 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3167433 rs_757277027

2 SubmittersRCV002659455RCV004617076

NM_005245.4(FAT1):c.6361A>G (p.Lys2121Glu) SNV
Germline
Chr4:186620225 Conflicting classifications of pathogenicity Condition: not provided
FAT1-related disorder
Criteria Provided
Conflicting Classifications
CA3166266 rs_202080269

3 SubmittersRCV002912971RCV004548387

NM_005245.4(FAT1):c.1532C>T (p.Ala511Val) SNV
Germline
Chr4:186708296 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3167447 rs_757086321

2 SubmittersRCV002938753RCV003269337

NM_005245.4(FAT1):c.6437T>G (p.Leu2146Ter) SNV
Germline
Chr4:186620149 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA112156689 rs_1053599088

1 SubmittersRCV002962641

NM_005245.4(FAT1):c.2426A>G (p.His809Arg) SNV
Germline
Chr4:186707402 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
CA3167261 rs_201850668

3 SubmittersRCV002942945

NM_005245.4(FAT1):c.2833G>A (p.Val945Ile) SNV
Germline
Chr4:186706995 Conflicting classifications of pathogenicity Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
CA3167164 rs_377150532

2 SubmittersRCV002923754RCV002948219

NM_005245.4(FAT1):c.3235G>A (p.Val1079Ile) SNV
Germline
Chr4:186706593 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3167078 rs_143694311

2 SubmittersRCV002985550RCV004617143

NM_005245.4(FAT1):c.2617G>A (p.Val873Met) SNV
Germline
Chr4:186707211 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3167228 rs_143802989

3 SubmittersRCV002976654RCV003170794

NM_005245.4(FAT1):c.1453C>G (p.Leu485Val) SNV
Germline
Chr4:186708375 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA358989094 rs_1360260127

2 SubmittersRCV003026846RCV003269391

NM_005245.4(FAT1):c.3785G>A (p.Arg1262Gln) SNV
Germline
Chr4:186636772 Conflicting classifications of pathogenicity Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
CA3166910 rs_775228629

2 SubmittersRCV002661777RCV003434602

NM_005245.4(FAT1):c.13255G>A (p.Ala4419Thr) SNV
Germline
Chr4:186589104 Conflicting classifications of pathogenicity Inborn genetic diseases
FAT1-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
CA3164575 rs_201847759

3 SubmittersRCV002772383RCV004552181RCV006612730

NM_005245.4(FAT1):c.7118A>G (p.Asp2373Gly) SNV
Germline
Chr4:186619468 Conflicting classifications of pathogenicity Inborn genetic diseases
Condition: not provided
FAT1-related disorder
Criteria Provided
Conflicting Classifications
CA3166120 rs_142890707

4 SubmittersRCV002836781RCV003546900RCV004552257

NM_005245.4(FAT1):c.5881G>A (p.Gly1961Ser) SNV
Germline
Chr4:186620705 Conflicting classifications of pathogenicity Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
CA3166360 rs_560450489

2 SubmittersRCV002673911RCV006473479

NM_005245.4(FAT1):c.13412C>T (p.Ala4471Val) SNV
Germline
Chr4:186588947 Conflicting classifications of pathogenicity Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
CA3164535 rs_375425015

2 SubmittersRCV003363789RCV005104104

NM_005245.4(FAT1):c.8749C>T (p.Arg2917Ter) SNV
Germline/somatic
Chr4:186617837 Likely pathogenic FAT1-related disorder
Neoplasm
Criteria Provided
Single Submitter
CA358960092 rs_2126488480

2 SubmittersRCV004548682RCV005230500

NM_005245.4(FAT1):c.675G>A (p.Ala225=) SNV
Germline
Chr4:186709153 Conflicting classifications of pathogenicity Condition: not provided
FAT1-related disorder
Criteria Provided
Conflicting Classifications
CA3167620 rs_141154871

2 SubmittersRCV003565666RCV004548691

NM_005245.4(FAT1):c.4603C>T (p.Arg1535Ter) SNV
Germline
Chr4:186628361 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA3166656 rs_577375480

1 SubmittersRCV003680314

NM_005245.4(FAT1):c.10993C>T (p.Arg3665Ter) SNV
Germline
Chr4:186603533 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA112157211 rs_928653182

1 SubmittersRCV003707184

NM_005245.4(FAT1):c.1657G>A (p.Val553Ile) SNV
Germline
Chr4:186708171 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3167417 rs_550890340

2 SubmittersRCV003720567RCV005335869

NM_005245.4(FAT1):c.8548C>T (p.Gln2850Ter) SNV
Germline
Chr4:186618038 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005196357

NM_005245.4(FAT1):c.1432A>G (p.Ile478Val) SNV
Germline
Chr4:186708396 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005402691RCV005836818

NM_005245.4(FAT1):c.2959C>T (p.Gln987Ter) SNV
Germline
Chr4:186706869 Pathogenic Inborn genetic diseases Criteria Provided
Single Submitter

1 SubmittersRCV005561010

NM_005245.4(FAT1):c.4960C>T (p.Arg1654Cys) SNV
Germline
Chr4:186621626 Conflicting classifications of pathogenicity Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005833085RCV006489923

NM_005245.4(FAT1):c.4599+2T>C SNV
Germline
Chr4:186628486 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV006497135

NM_005245.4(FAT1):c.12369-2A>G SNV
Germline
Chr4:186597173 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV006496662

NM_005245.4(FAT1):c.7666C>T (p.Arg2556Ter) SNV
Germline
Chr4:186618920 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV006580590

NM_005245.4(FAT1):c.13138+1G>A SNV
Germline
Chr4:186595688 Likely pathogenic Syndromic microphthalmia Criteria Provided
Single Submitter

1 SubmittersRCV006605946