A total 203 pathogenic variants reported in gene FAT atypical cadherin 4 (FAT4)  
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001291303.3(FAT4):c.12482G>T (p.Cys4161Phe) SNV
Germline
Chr4:125479743 Pathogenic Van Maldergem syndrome 2 No Assertion Criteria Provided
CA145419 rs_398122953

1 SubmittersRCV000074488

NM_001291303.3(FAT4):c.13199G>A (p.Cys4400Tyr) SNV
Germline
Chr4:125490015 Pathogenic Van Maldergem syndrome 2 No Assertion Criteria Provided
CA145421 rs_398122954

1 SubmittersRCV000074489

NM_001291303.3(FAT4):c.7123G>A (p.Glu2375Lys) SNV
Germline
Chr4:125434349 Pathogenic Van Maldergem syndrome 2
Hennekam lymphangiectasia-lymphedema syndrome 2
No Assertion Criteria Provided
CA145423 rs_398122955

1 SubmittersRCV000074490RCV000144157

NM_001291303.3(FAT4):c.9487G>T (p.Glu3163Ter) SNV
Germline
Chr4:125450497 Pathogenic Van Maldergem syndrome 2 No Assertion Criteria Provided
CA145425 rs_370088878

1 SubmittersRCV000074491

NM_001291303.3(FAT4):c.11461C>T (p.Arg3821Ter) SNV
Germline
Chr4:125452471 Pathogenic Van Maldergem syndrome 2
Condition: not provided
Criteria Provided
Single Submitter
CA145429 rs_398122957

2 SubmittersRCV000074493RCV001854272

NM_001291303.3(FAT4):c.7204A>C (p.Arg2402=) SNV
Germline
Chr4:125446297 Pathogenic Hennekam lymphangiectasia-lymphedema syndrome 2 No Assertion Criteria Provided
CA170766 rs_587777726

1 SubmittersRCV000144161

NM_001291303.3(FAT4):c.131A>C (p.Glu44Ala) SNV
Germline
Chr4:125316542 Conflicting classifications of pathogenicity Irido-corneo-trabecular dysgenesis
Anophthalmia-microphthalmia syndrome
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA071916 rs_200221425

6 SubmittersRCV000207378RCV001497990RCV006263760

NM_001291303.3(FAT4):c.7966A>C (p.Lys2656Gln) SNV
Germline
Chr4:125448976 Conflicting classifications of pathogenicity Anophthalmia-microphthalmia syndrome
Condition: not provided
Hennekam lymphangiectasia-lymphedema syndrome 2
Van Maldergem syndrome 2
Criteria Provided
Conflicting Classifications
CA071635 rs_760398912

4 SubmittersRCV000207371RCV002517389RCV005025338

NM_001291303.3(FAT4):c.5597C>T (p.Thr1866Met) SNV
Germline
Chr4:125408471 Conflicting classifications of pathogenicity Condition: not provided
Hennekam lymphangiectasia-lymphedema syndrome 2
Criteria Provided
Conflicting Classifications
CA3072765 rs_141773516

3 SubmittersRCV000255467RCV003458324

NM_001291303.3(FAT4):c.3682C>G (p.Gln1228Glu) SNV
Germline
Chr4:125320093 Conflicting classifications of pathogenicity not specified
Condition: not provided
FAT4-related disorder
Criteria Provided
Conflicting Classifications
CA3072345 rs_200227715

4 SubmittersRCV000412975RCV001461674RCV004751511

NM_001291303.3(FAT4):c.5275A>G (p.Ile1759Val) SNV
Germline
Chr4:125398883 Conflicting classifications of pathogenicity Condition: not provided
not specified
Hennekam lymphangiectasia-lymphedema syndrome 2
FAT4-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3072652 rs_145639192

11 SubmittersRCV000421249RCV000500269RCV001270064RCV003912598RCV004022262

NM_001291303.3(FAT4):c.2811G>T (p.Lys937Asn) SNV
Germline
Chr4:125319222 Conflicting classifications of pathogenicity Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA3072208 rs_112454576

3 SubmittersRCV000908162RCV001821200

NM_001291303.3(FAT4):c.12070C>T (p.Arg4024Trp) SNV
Germline
Chr4:125468676 Conflicting classifications of pathogenicity not specified
Condition: not provided
FAT4-related disorder
Criteria Provided
Conflicting Classifications
CA3074002 rs_138019311

6 SubmittersRCV000423018RCV000960022RCV003912656

NM_001291303.3(FAT4):c.11619C>T (p.Cys3873=) SNV
Germline
Chr4:125452629 Conflicting classifications of pathogenicity not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA3073886 rs_141328606

8 SubmittersRCV000417641RCV000903239

NM_001291303.3(FAT4):c.13460C>T (p.Ala4487Val) SNV
Germline
Chr4:125490276 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3074375 rs_141234678

3 SubmittersRCV000434024RCV003258815

NM_001291303.3(FAT4):c.2527C>T (p.Gln843Ter) SNV
Germline
Chr4:125318938 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
CA16618031 rs_1064793943

1 SubmittersRCV000482687

NM_001291303.3(FAT4):c.7103C>A (p.Ala2368Glu) SNV
Germline
Chr4:125434329 Conflicting classifications of pathogenicity Condition: not provided
Hennekam lymphangiectasia-lymphedema syndrome 2
FAT4-related disorder
Criteria Provided
Conflicting Classifications
CA3073094 rs_116568645

4 SubmittersRCV000483029RCV001333192RCV003902733

NM_001291303.3(FAT4):c.8021A>T (p.Asp2674Val) SNV
Germline
Chr4:125449031 Conflicting classifications of pathogenicity Condition: not provided
Van Maldergem syndrome 2
FAT4-related disorder
Criteria Provided
Conflicting Classifications
CA3073298 rs_138655269

9 SubmittersRCV000481182RCV000626046RCV003972810

NM_001291303.3(FAT4):c.6977C>T (p.Thr2326Ile) SNV
Germline
Chr4:125416581 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Hennekam lymphangiectasia-lymphedema syndrome 2
Van Maldergem syndrome 2
FAT4-related disorder
Criteria Provided
Conflicting Classifications
CA3073042 rs_200344386

8 SubmittersRCV000488172RCV002525999RCV005027563RCV004751563

NM_001291303.3(FAT4):c.6094A>G (p.Thr2032Ala) SNV
Germline
Chr4:125415057 Conflicting classifications of pathogenicity Condition: not provided
Hennekam lymphangiectasia-lymphedema syndrome 2
Criteria Provided
Conflicting Classifications
CA3072869 rs_147314754

6 SubmittersRCV001700194RCV003458201

NM_001291303.3(FAT4):c.12091G>A (p.Glu4031Lys) SNV
Germline
Chr4:125468697 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
CA358128444 rs_1085307886

1 SubmittersRCV000489558

NM_001291303.3(FAT4):c.7196T>C (p.Ile2399Thr) SNV
Germline
Chr4:125434422 Conflicting classifications of pathogenicity Condition: not provided
Van Maldergem syndrome 2
Hennekam lymphangiectasia-lymphedema syndrome 2
Criteria Provided
Conflicting Classifications
CA3073112 rs_140285782

4 SubmittersRCV000493492RCV005027572

NM_001291303.3(FAT4):c.2896A>G (p.Ile966Val) SNV
Germline
Chr4:125319307 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Van Maldergem syndrome 2
Criteria Provided
Conflicting Classifications
CA3072220 rs_778631726

4 SubmittersRCV000498909RCV005338202RCV005051786

NM_001291303.3(FAT4):c.5401C>T (p.Arg1801Trp) SNV
Germline
Chr4:125406973 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Hennekam lymphangiectasia-lymphedema syndrome 2
Van Maldergem syndrome 2
Criteria Provided
Conflicting Classifications
CA3072706 rs_201887525

5 SubmittersRCV000497799RCV002527139RCV005034038

NM_001291303.3(FAT4):c.12647G>A (p.Arg4216His) SNV
Germline
Chr4:125481563 Conflicting classifications of pathogenicity Condition: not provided
Hennekam lymphangiectasia-lymphedema syndrome 2
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3074164 rs_148170326

4 SubmittersRCV000498993RCV001333189RCV002524078

NM_001291303.3(FAT4):c.5987A>G (p.Lys1996Arg) SNV
Germline
Chr4:125414950 Conflicting classifications of pathogenicity not specified
Condition: not provided
Inborn genetic diseases
FAT4-related disorder
Criteria Provided
Conflicting Classifications
CA3072850 rs_140055438

8 SubmittersRCV000500173RCV000836434RCV002524183RCV003935286

NM_001291303.3(FAT4):c.3424G>A (p.Val1142Met) SNV
Germline
Chr4:125319835 Conflicting classifications of pathogenicity Condition: not provided
FAT4-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA3072307 rs_202188213

5 SubmittersRCV001445290RCV003935380RCV004525957

NM_001291303.3(FAT4):c.11153G>A (p.Arg3718His) SNV
Germline
Chr4:125452163 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
CA3073799 rs_139635339

2 SubmittersRCV000523891

NM_001291303.3(FAT4):c.12769G>A (p.Glu4257Lys) SNV
Germline
Chr4:125481685 Conflicting classifications of pathogenicity Condition: not provided
not specified
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3074176 rs_143513466

6 SubmittersRCV000519230RCV003114649RCV002527594

NM_001291303.3(FAT4):c.13627A>T (p.Lys4543Ter) SNV
Germline
Chr4:125490443 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
CA358137306 rs_1553931042

1 SubmittersRCV000520709

NM_001291303.3(FAT4):c.7231A>T (p.Thr2411Ser) SNV
Germline
Chr4:125446324 Conflicting classifications of pathogenicity Condition: not provided
not specified
FAT4-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3073141 rs_147297895

5 SubmittersRCV000597171RCV002222561RCV003927908RCV004619348

NM_001291303.3(FAT4):c.12066C>T (p.Gly4022=) SNV
Germline
Chr4:125468672 Conflicting classifications of pathogenicity Condition: not provided
FAT4-related disorder
Criteria Provided
Conflicting Classifications
CA3073999 rs_144476127

3 SubmittersRCV000599570RCV003927946

NM_001291303.3(FAT4):c.7813A>G (p.Ile2605Val) SNV
Germline
Chr4:125448823 Conflicting classifications of pathogenicity Condition: not provided
not specified
FAT4-related disorder
Criteria Provided
Conflicting Classifications
CA3073261 rs_745697037

4 SubmittersRCV000898300RCV001821752RCV003905658

NM_001291303.3(FAT4):c.11693C>T (p.Ala3898Val) SNV
Germline
Chr4:125452703 Conflicting classifications of pathogenicity Condition: not provided
FAT4-related disorder
Colorectal cancer
Criteria Provided
Conflicting Classifications
CA3073896 rs_138275098

6 SubmittersRCV001520231RCV003928005RCV005899964

NM_001291303.3(FAT4):c.10560G>A (p.Met3520Ile) SNV
Germline
Chr4:125451570 Conflicting classifications of pathogenicity Van Maldergem syndrome 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA3073702 rs_144506470

3 SubmittersRCV000626045RCV001418858

NM_001291303.3(FAT4):c.13417G>A (p.Val4473Ile) SNV
Germline
Chr4:125490233 Conflicting classifications of pathogenicity Condition: not provided
not specified
FAT4-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3074367 rs_145835705

5 SubmittersRCV000657948RCV001175011RCV003918099RCV004972835

NM_001291303.3(FAT4):c.11040G>A (p.Thr3680=) SNV
Germline
Chr4:125452050 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
CA3073775 rs_147998041

2 SubmittersRCV000731234

NM_001291303.3(FAT4):c.5367C>T (p.Ile1789=) SNV
Germline
Chr4:125406939 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
CA3072699 rs_144922340

2 SubmittersRCV000731236

NM_001291303.3(FAT4):c.11800+1G>T SNV
Unknown
Chr4:125452811 Pathogenic Van Maldergem syndrome 2 Criteria Provided
Single Submitter
CA104883444 rs_963302668

1 SubmittersRCV000761486

NM_001291303.3(FAT4):c.6700C>T (p.Arg2234Ter) SNV
Germline
Chr4:125415663 Pathogenic/Likely pathogenic Van Maldergem syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA358130360 rs_567305960

2 SubmittersRCV000825521RCV003736915

NM_001291303.3(FAT4):c.185G>C (p.Gly62Ala) SNV
Germline
Chr4:125316596 Conflicting classifications of pathogenicity Condition: not provided
Van Maldergem syndrome 2
Hennekam lymphangiectasia-lymphedema syndrome 2
FAT4-related disorder
Criteria Provided
Conflicting Classifications
CA3071760 rs_201009019

5 SubmittersRCV000839511RCV002053128RCV003965623

NM_001291303.3(FAT4):c.10227C>T (p.Asn3409=) SNV
Germline
Chr4:125451237 Conflicting classifications of pathogenicity Condition: not provided
Hennekam lymphangiectasia-lymphedema syndrome 2
Van Maldergem syndrome 2
Criteria Provided
Conflicting Classifications
CA3073653 rs_368992969

2 SubmittersRCV000910780RCV005029530

NM_001291303.3(FAT4):c.3153A>G (p.Gln1051=) SNV
Germline
Chr4:125319564 Conflicting classifications of pathogenicity Condition: not provided
Van Maldergem syndrome 2
Hennekam lymphangiectasia-lymphedema syndrome 2
Criteria Provided
Conflicting Classifications
CA3072267 rs_372689449

2 SubmittersRCV000943293RCV005029539

NM_001291303.3(FAT4):c.5530C>T (p.Pro1844Ser) SNV
Germline
Chr4:125407102 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3072738 rs_76963800

3 SubmittersRCV000933699RCV005831729

NM_001291303.3(FAT4):c.13305C>T (p.His4435=) SNV
Germline
Chr4:125490121 Conflicting classifications of pathogenicity Condition: not provided
Hennekam lymphangiectasia-lymphedema syndrome 2
Van Maldergem syndrome 2
Criteria Provided
Conflicting Classifications
CA441373468 rs_1357034003

2 SubmittersRCV000939512RCV005036253

NM_001291303.3(FAT4):c.2343C>T (p.Ile781=) SNV
Germline
Chr4:125318754 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
CA3072152 rs_373586010

2 SubmittersRCV000978421

NM_001291303.3(FAT4):c.3212T>C (p.Val1071Ala) SNV
Germline
Chr4:125319623 Conflicting classifications of pathogenicity Van Maldergem syndrome 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA3072277 rs_200138872

2 SubmittersRCV000987470RCV001453789

NM_001291303.3(FAT4):c.8290A>C (p.Asn2764His) SNV
Germline
Chr4:125449300 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3073344 rs_147281598

4 SubmittersRCV000998294RCV002549084

NM_001291303.3(FAT4):c.13193T>C (p.Ile4398Thr) SNV
Germline
Chr4:125490009 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Hennekam lymphangiectasia-lymphedema syndrome 2
Van Maldergem syndrome 2
Criteria Provided
Conflicting Classifications
CA3074318 rs_200729108

5 SubmittersRCV000998295RCV002549085RCV005029559

NM_001291303.3(FAT4):c.5792A>G (p.Tyr1931Cys) SNV
Germline
Chr4:125408666 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3072796 rs_139716832

5 SubmittersRCV001091381RCV002554830

NM_001291303.3(FAT4):c.2917G>A (p.Val973Ile) SNV
Germline
Chr4:125319328 Conflicting classifications of pathogenicity Condition: not provided
FAT4-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3072226 rs_199497561

4 SubmittersRCV001216220RCV003953587RCV002561885

NM_001291303.3(FAT4):c.1099G>A (p.Val367Ile) SNV
Germline
Chr4:125317510 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
FAT4-related disorder
Hennekam lymphangiectasia-lymphedema syndrome 2
Van Maldergem syndrome 2
Criteria Provided
Conflicting Classifications
CA3071916 rs_747531733

6 SubmittersRCV001760325RCV002537935RCV003928818RCV005394899

NM_001291303.3(FAT4):c.7018+1G>A SNV
Germline
Chr4:125416623 Pathogenic Van Maldergem syndrome 2 Criteria Provided
Single Submitter
CA358131888 rs_2126029076

1 SubmittersRCV001580580

NM_001291303.3(FAT4):c.11260A>G (p.Ser3754Gly) SNV
Germline
Chr4:125452270 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Van Maldergem syndrome 2
Hennekam lymphangiectasia-lymphedema syndrome 2
FAT4-related disorder
Intellectual disability
Criteria Provided
Conflicting Classifications
CA3073818 rs_79909102

5 SubmittersRCV001309974RCV002543538RCV003883174RCV003938613RCV005626390

NM_001291303.3(FAT4):c.8313T>C (p.Asn2771=) SNV
Germline
Chr4:125449323 Conflicting classifications of pathogenicity Hennekam lymphangiectasia-lymphedema syndrome 2
Condition: not provided
FAT4-related disorder
Criteria Provided
Conflicting Classifications
CA3073345 rs_148344513

3 SubmittersRCV001334203RCV002070181RCV003953673

NM_001291303.3(FAT4):c.12085G>A (p.Ala4029Thr) SNV
Germline
Chr4:125468691 Conflicting classifications of pathogenicity Hennekam lymphangiectasia-lymphedema syndrome 2
Condition: not provided
FAT4-related disorder
Van Maldergem syndrome 2
Hennekam lymphangiectasia-lymphedema syndrome 2
Criteria Provided
Conflicting Classifications
CA3074006 rs_140544054

4 SubmittersRCV001333188RCV002070173RCV003953671RCV005023058

NM_001291303.3(FAT4):c.829G>A (p.Ala277Thr) SNV
Germline
Chr4:125317240 Conflicting classifications of pathogenicity Condition: not provided
FAT4-related disorder
Criteria Provided
Conflicting Classifications
CA3071873 rs_183191959

4 SubmittersRCV001429607RCV003399225

NM_001291303.3(FAT4):c.1244C>G (p.Pro415Arg) SNV
Germline
Chr4:125317655 Conflicting classifications of pathogenicity Condition: not provided
Van Maldergem syndrome 2
Hennekam lymphangiectasia-lymphedema syndrome 2
Gastric cancer
Criteria Provided
Conflicting Classifications
CA3071947 rs_746792200

3 SubmittersRCV001439930RCV005038222RCV005912767

NM_001291303.3(FAT4):c.12499G>A (p.Ala4167Thr) SNV
Germline
Chr4:125479760 Conflicting classifications of pathogenicity Condition: not provided
Hennekam lymphangiectasia-lymphedema syndrome 2
Van Maldergem syndrome 2
Criteria Provided
Conflicting Classifications
CA3074127 rs_369432764

3 SubmittersRCV001436319RCV005023165

NM_001291303.3(FAT4):c.3067A>G (p.Lys1023Glu) SNV
Germline
Chr4:125319478 Conflicting classifications of pathogenicity Condition: not provided
Van Maldergem syndrome 2
Hennekam lymphangiectasia-lymphedema syndrome 2
Criteria Provided
Conflicting Classifications
CA3072256 rs_758101910

2 SubmittersRCV001457322RCV005023169

NM_001291303.3(FAT4):c.10570C>T (p.Arg3524Trp) SNV
Germline
Chr4:125451580 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
CA3073703 rs_145569482

2 SubmittersRCV001450724

NM_001291303.3(FAT4):c.13634C>T (p.Pro4545Leu) SNV
Germline
Chr4:125490450 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3074406 rs_200092854

2 SubmittersRCV001452925RCV002560334

NM_001291303.3(FAT4):c.7582G>A (p.Gly2528Arg) SNV
Germline
Chr4:125448592 Conflicting classifications of pathogenicity Condition: not provided
Van Maldergem syndrome 2
Hennekam lymphangiectasia-lymphedema syndrome 2
Criteria Provided
Conflicting Classifications
CA3073222 rs_199986451

2 SubmittersRCV001491405RCV005023174

NM_001291303.3(FAT4):c.9451G>A (p.Ala3151Thr) SNV
Germline
Chr4:125450461 Conflicting classifications of pathogenicity Condition: not provided
Van Maldergem syndrome 2
Hennekam lymphangiectasia-lymphedema syndrome 2
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3073528 rs_200702071

4 SubmittersRCV001512581RCV002071879RCV004980576

NM_001291303.3(FAT4):c.12342C>G (p.Ile4114Met) SNV
Germline
Chr4:125477197 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
CA3074075 rs_150804471

2 SubmittersRCV001557424

NM_001291303.3(FAT4):c.14169G>T (p.Leu4723Phe) SNV
Germline
Chr4:125490985 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
CA3074516 rs_760377475

2 SubmittersRCV001555046

NM_001291303.3(FAT4):c.2057G>A (p.Ser686Asn) SNV
Germline
Chr4:125318468 Conflicting classifications of pathogenicity Condition: not provided
FAT4-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3072107 rs_374104309

5 SubmittersRCV001562265RCV003931192RCV005831942

NM_001291303.3(FAT4):c.6731C>T (p.Thr2244Met) SNV
Germline
Chr4:125415694 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Hennekam lymphangiectasia-lymphedema syndrome 2
Van Maldergem syndrome 2
Criteria Provided
Conflicting Classifications
CA3072973 rs_145342353

4 SubmittersRCV001562721RCV002573178RCV005038263

NM_001291303.3(FAT4):c.12716T>C (p.Met4239Thr) SNV
Germline
Chr4:125481632 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3074171 rs_137954725

4 SubmittersRCV001561071RCV005341024

NM_001291303.3(FAT4):c.11380C>T (p.Arg3794Trp) SNV
Germline
Chr4:125452390 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
FAT4-related disorder
Criteria Provided
Conflicting Classifications
CA3073841 rs_201859188

5 SubmittersRCV001583665RCV002573321RCV003434312

NM_001291303.3(FAT4):c.2273C>T (p.Ala758Val) SNV
Germline
Chr4:125318684 Conflicting classifications of pathogenicity Condition: not provided
Hennekam lymphangiectasia-lymphedema syndrome 2
Van Maldergem syndrome 2
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3072137 rs_570502199

5 SubmittersRCV001593458RCV005038272RCV005341028

NM_001291303.3(FAT4):c.8537G>A (p.Arg2846Gln) SNV
Germline
Chr4:125449547 Conflicting classifications of pathogenicity Condition: not provided
Van Maldergem syndrome 2
Criteria Provided
Conflicting Classifications
CA3073390 rs_373393333

3 SubmittersRCV001592526RCV005051912

NM_001291303.3(FAT4):c.14362G>A (p.Gly4788Arg) SNV
Germline
Chr4:125491178 Conflicting classifications of pathogenicity Condition: not provided
not specified
Hennekam lymphangiectasia-lymphedema syndrome 2
Van Maldergem syndrome 2
Criteria Provided
Conflicting Classifications
CA3074546 rs_138173652

4 SubmittersRCV001665155RCV006453731RCV005023211

NM_001291303.3(FAT4):c.4432A>C (p.Ile1478Leu) SNV
Germline
Chr4:125320843 Conflicting classifications of pathogenicity Condition: not provided
Hennekam lymphangiectasia-lymphedema syndrome 2
Van Maldergem syndrome 2
Criteria Provided
Conflicting Classifications
CA3072464 rs_200565115

3 SubmittersRCV001757908RCV005038289

NM_001291303.3(FAT4):c.4228G>A (p.Val1410Met) SNV
Germline
Chr4:125320639 Conflicting classifications of pathogenicity Condition: not provided
Van Maldergem syndrome 2
Hennekam lymphangiectasia-lymphedema syndrome 2
Criteria Provided
Conflicting Classifications
CA3072434 rs_781736766

4 SubmittersRCV001772484RCV004728795

NM_001291303.3(FAT4):c.5552C>T (p.Pro1851Leu) SNV
Germline
Chr4:125407124 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3072743 rs_138655912

3 SubmittersRCV001770853RCV004040142

NM_001291303.3(FAT4):c.4964G>A (p.Ser1655Asn) SNV
Germline
Chr4:125321375 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
CA3072550 rs_572010193

2 SubmittersRCV001763201

NM_001291303.3(FAT4):c.4199G>A (p.Arg1400His) SNV
Germline
Chr4:125320610 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Van Maldergem syndrome 2
Hennekam lymphangiectasia-lymphedema syndrome 2
Criteria Provided
Conflicting Classifications
CA3072427 rs_376791829

5 SubmittersRCV001773189RCV002540567RCV005023244

NM_001291303.3(FAT4):c.12778G>A (p.Val4260Ile) SNV
Germline
Chr4:125481694 Conflicting classifications of pathogenicity Condition: not provided
Van Maldergem syndrome 2
Hennekam lymphangiectasia-lymphedema syndrome 2
Criteria Provided
Conflicting Classifications
CA3074179 rs_369024765

3 SubmittersRCV001797507RCV005023259

NM_001291303.3(FAT4):c.9597T>A (p.Asp3199Glu) SNV
Germline
Chr4:125450607 Conflicting classifications of pathogenicity not specified
Inborn genetic diseases
Condition: not provided
Van Maldergem syndrome 2
Hennekam lymphangiectasia-lymphedema syndrome 2
Congenital chromosomal disease
Criteria Provided
Conflicting Classifications
CA3073550 rs_568003396

5 SubmittersRCV001820717RCV002542052RCV002545160RCV005038343RCV005626502

NM_001291303.3(FAT4):c.4549A>C (p.Ile1517Leu) SNV
Germline
Chr4:125320960 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
FAT4-related disorder
Criteria Provided
Conflicting Classifications
CA3072482 rs_374899663

5 SubmittersRCV001823417RCV004041001RCV005225517

NM_001291303.3(FAT4):c.6099C>T (p.Ser2033=) SNV
Germline
Chr4:125415062 Conflicting classifications of pathogenicity Condition: not provided
Hennekam lymphangiectasia-lymphedema syndrome 2
Van Maldergem syndrome 2
Criteria Provided
Conflicting Classifications
CA441369408 rs_1734990759

2 SubmittersRCV001894673RCV005038399

NM_001291303.3(FAT4):c.3637G>T (p.Asp1213Tyr) SNV
Germline
Chr4:125320048 Conflicting classifications of pathogenicity Condition: not provided
Van Maldergem syndrome 2
Hennekam lymphangiectasia-lymphedema syndrome 2
Van Maldergem syndrome 2
Criteria Provided
Conflicting Classifications
CA3072338 rs_762595829

3 SubmittersRCV001878306RCV004728860RCV005922880

NM_001291303.3(FAT4):c.8252G>T (p.Gly2751Val) SNV
Germline
Chr4:125449262 Conflicting classifications of pathogenicity Condition: not provided
Intellectual disability
Criteria Provided
Conflicting Classifications
CA3073333 rs_767230275

2 SubmittersRCV001912621RCV005626536

NM_001291303.3(FAT4):c.835G>T (p.Glu279Ter) SNV
Germline
Chr4:125317246 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA358116633 rs_373298045

1 SubmittersRCV001953892

NM_001291303.3(FAT4):c.2689A>G (p.Ile897Val) SNV
Germline
Chr4:125319100 Conflicting classifications of pathogenicity Condition: not provided
FAT4-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3072196 rs_112101185

5 SubmittersRCV001942660RCV003395246RCV005831994

NM_001291303.3(FAT4):c.2824A>G (p.Ile942Val) SNV
Germline
Chr4:125319235 Conflicting classifications of pathogenicity Condition: not provided
FAT4-related disorder
Van Maldergem syndrome 2
Hennekam lymphangiectasia-lymphedema syndrome 2
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3072211 rs_368138514

7 SubmittersRCV001961819RCV003941184RCV004728872RCV005831995

NM_001291303.3(FAT4):c.5490T>G (p.Thr1830=) SNV
Germline
Chr4:125407062 Conflicting classifications of pathogenicity Condition: not provided
Van Maldergem syndrome 2
Hennekam lymphangiectasia-lymphedema syndrome 2
Criteria Provided
Conflicting Classifications
CA441369292 rs_1262944393

3 SubmittersRCV002022057RCV005025575

NM_001291303.3(FAT4):c.10571G>A (p.Arg3524Gln) SNV
Germline
Chr4:125451581 Conflicting classifications of pathogenicity Condition: not provided
Hennekam lymphangiectasia-lymphedema syndrome 2
Van Maldergem syndrome 2
Criteria Provided
Conflicting Classifications
CA3073704 rs_200082059

2 SubmittersRCV001931495RCV005023477

NM_001291303.3(FAT4):c.6843+1G>T SNV
Germline
Chr4:125415807 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
CA358130654 rs_2126028189

1 SubmittersRCV002048404

NM_001291303.3(FAT4):c.11039C>T (p.Thr3680Met) SNV
Germline
Chr4:125452049 Conflicting classifications of pathogenicity Condition: not provided
Van Maldergem syndrome 2
Hennekam lymphangiectasia-lymphedema syndrome 2
Criteria Provided
Conflicting Classifications
CA3073774 rs_367877267

2 SubmittersRCV001985210RCV004728980

NM_001291303.3(FAT4):c.12910G>A (p.Gly4304Ser) SNV
Germline
Chr4:125487432 Conflicting classifications of pathogenicity Condition: not provided
Van Maldergem syndrome 2
Hennekam lymphangiectasia-lymphedema syndrome 2
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3074222 rs_746761404

4 SubmittersRCV002011898RCV005025494RCV005834138

NM_001291303.3(FAT4):c.6592A>G (p.Thr2198Ala) SNV
Germline
Chr4:125415555 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA358130132 rs_2126027812

2 SubmittersRCV001867035RCV005831983

NM_001291303.3(FAT4):c.5311G>A (p.Ala1771Thr) SNV
Germline
Chr4:125406883 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3072683 rs_147751409

2 SubmittersRCV002184634RCV003365679

NM_001291303.3(FAT4):c.5880A>T (p.Gly1960=) SNV
Germline
Chr4:125408754 Conflicting classifications of pathogenicity Condition: not provided
Van Maldergem syndrome 2
Hennekam lymphangiectasia-lymphedema syndrome 2
Criteria Provided
Conflicting Classifications
CA3072815 rs_756664489

2 SubmittersRCV002182324RCV005025684

NM_001291303.3(FAT4):c.3675T>A (p.Asn1225Lys) SNV
Germline
Chr4:125320086 Conflicting classifications of pathogenicity Condition: not provided
Hennekam lymphangiectasia-lymphedema syndrome 2
Van Maldergem syndrome 2
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3072342 rs_202235021

3 SubmittersRCV002112109RCV005025698RCV004976239

NM_001291303.3(FAT4):c.3958C>A (p.Leu1320Ile) SNV
Germline
Chr4:125320369 Conflicting classifications of pathogenicity Condition: not provided
FAT4-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3072391 rs_551446826

3 SubmittersRCV002110955RCV004752153RCV004976236

NM_001291303.3(FAT4):c.6729C>T (p.Ser2243=) SNV
Germline
Chr4:125415692 Conflicting classifications of pathogenicity Condition: not provided
FAT4-related disorder
Van Maldergem syndrome 2
Hennekam lymphangiectasia-lymphedema syndrome 2
Criteria Provided
Conflicting Classifications
CA3072971 rs_368872163

3 SubmittersRCV002081016RCV003893233RCV005032157

NM_001291303.3(FAT4):c.5054G>A (p.Arg1685Gln) SNV
Germline
Chr4:125321465 Conflicting classifications of pathogenicity Condition: not provided
Van Maldergem syndrome 2
Hennekam lymphangiectasia-lymphedema syndrome 2
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3072568 rs_376422522

4 SubmittersRCV002211928RCV005025690RCV004045591

NM_001291303.3(FAT4):c.3515C>T (p.Thr1172Ile) SNV
Germline
Chr4:125319926 Conflicting classifications of pathogenicity Condition: not provided
Hennekam lymphangiectasia-lymphedema syndrome 2
Van Maldergem syndrome 2
Criteria Provided
Conflicting Classifications
CA3072323 rs_535333070

3 SubmittersRCV002135431RCV005025713

NM_001291303.3(FAT4):c.2787C>T (p.Leu929=) SNV
Germline
Chr4:125319198 Conflicting classifications of pathogenicity Condition: not provided
Hennekam lymphangiectasia-lymphedema syndrome 2
Van Maldergem syndrome 2
Criteria Provided
Conflicting Classifications
CA441367620 rs_1730806684

2 SubmittersRCV002153820RCV005032181

NM_001291303.3(FAT4):c.4274T>G (p.Ile1425Ser) SNV
Germline
Chr4:125320685 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3072439 rs_759931847

2 SubmittersRCV002144202RCV003250464

NM_001291303.3(FAT4):c.13555G>A (p.Ala4519Thr) SNV
Germline
Chr4:125490371 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA104876095 rs_202148971

3 SubmittersRCV002126918RCV004046280

NM_001291303.3(FAT4):c.7079A>G (p.Asn2360Ser) SNV
Germline
Chr4:125434305 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3073087 rs_534302520

3 SubmittersRCV002119977RCV003015344

NM_001291303.3(FAT4):c.13807A>G (p.Asn4603Asp) SNV
Germline
Chr4:125490623 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3074439 rs_780176625

2 SubmittersRCV002219117RCV004616986

NM_001291303.3(FAT4):c.1420G>A (p.Val474Ile) SNV
Germline
Chr4:125317831 Conflicting classifications of pathogenicity Condition: not provided
Hennekam lymphangiectasia-lymphedema syndrome 2
Van Maldergem syndrome 2
Criteria Provided
Conflicting Classifications
CA3071987 rs_753978592

2 SubmittersRCV002101210RCV005032163

NM_001291303.3(FAT4):c.5943T>C (p.Tyr1981=) SNV
Germline
Chr4:125414906 Conflicting classifications of pathogenicity Condition: not provided
FAT4-related disorder
Van Maldergem syndrome 2
Hennekam lymphangiectasia-lymphedema syndrome 2
Criteria Provided
Conflicting Classifications
CA3072843 rs_149373164

3 SubmittersRCV002212350RCV003968785RCV005025691

NM_001291303.3(FAT4):c.1802A>G (p.Glu601Gly) SNV
Germline
Chr4:125318213 Conflicting classifications of pathogenicity Condition: not provided
FAT4-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3072052 rs_377156485

4 SubmittersRCV002109425RCV003395391RCV004046267

NM_001291303.3(FAT4):c.3049A>G (p.Lys1017Glu) SNV
Germline
Chr4:125319460 Conflicting classifications of pathogenicity Condition: not provided
Hennekam lymphangiectasia-lymphedema syndrome 2
Van Maldergem syndrome 2
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3072252 rs_200995117

3 SubmittersRCV002121869RCV005032175RCV005834222

NM_001291303.3(FAT4):c.2897T>C (p.Ile966Thr) SNV
Germline
Chr4:125319308 Conflicting classifications of pathogenicity Condition: not provided
Van Maldergem syndrome 2
Hennekam lymphangiectasia-lymphedema syndrome 2
Criteria Provided
Conflicting Classifications
CA3072221 rs_200952904

3 SubmittersRCV002117441RCV005025706

NM_001291303.3(FAT4):c.4080C>T (p.His1360=) SNV
Germline
Chr4:125320491 Conflicting classifications of pathogenicity Condition: not provided
Hennekam lymphangiectasia-lymphedema syndrome 2
Van Maldergem syndrome 2
Criteria Provided
Conflicting Classifications
CA3072411 rs_371821589

2 SubmittersRCV002101047RCV005032162

NM_001291303.3(FAT4):c.11121C>T (p.Ser3707=) SNV
Germline
Chr4:125452131 Conflicting classifications of pathogenicity Condition: not provided
Hennekam lymphangiectasia-lymphedema syndrome 2
Van Maldergem syndrome 2
Criteria Provided
Conflicting Classifications
CA3073794 rs_747348231

2 SubmittersRCV002101164RCV005025701

NM_001291303.3(FAT4):c.8812C>A (p.Gln2938Lys) SNV
Germline
Chr4:125449822 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Hennekam lymphangiectasia-lymphedema syndrome 2
Van Maldergem syndrome 2
Criteria Provided
Conflicting Classifications
CA3073429 rs_370499753

3 SubmittersRCV002135161RCV003061768RCV005032176

NM_001291303.3(FAT4):c.6917A>G (p.Asn2306Ser) SNV
Germline
Chr4:125416521 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3073027 rs_369144497

2 SubmittersRCV002173778RCV003250462

NM_001291303.3(FAT4):c.6985C>T (p.Arg2329Cys) SNV
Germline
Chr4:125416589 Conflicting classifications of pathogenicity Condition: not provided
Van Maldergem syndrome 2
Hennekam lymphangiectasia-lymphedema syndrome 2
Criteria Provided
Conflicting Classifications
CA3073043 rs_148293496

4 SubmittersRCV002132350RCV005032166

NM_001291303.3(FAT4):c.8818G>A (p.Val2940Ile) SNV
Germline
Chr4:125449828 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3073430 rs_746085629

2 SubmittersRCV002120685RCV005565184

NM_001291303.3(FAT4):c.1222G>A (p.Glu408Lys) SNV
Germline
Chr4:125317633 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3071945 rs_574924064

2 SubmittersRCV002157774RCV003033325

NM_001291303.3(FAT4):c.6976A>G (p.Thr2326Ala) SNV
Germline
Chr4:125416580 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Hennekam lymphangiectasia-lymphedema syndrome 2
Van Maldergem syndrome 2
Criteria Provided
Conflicting Classifications
CA3073041 rs_757774648

3 SubmittersRCV002101389RCV003339926RCV005025702

NM_001291303.3(FAT4):c.1432C>G (p.Gln478Glu) SNV
Germline
Chr4:125317843 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3071988 rs_201892240

2 SubmittersRCV002103691RCV005841970

NM_001291303.3(FAT4):c.12166G>T (p.Val4056Leu) SNV
Germline
Chr4:125468772 Conflicting classifications of pathogenicity Condition: not provided
Hennekam lymphangiectasia-lymphedema syndrome 2
Van Maldergem syndrome 2
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3074016 rs_753998777

3 SubmittersRCV002216218RCV005025692RCV003355800

NM_001291303.3(FAT4):c.11725A>G (p.Ser3909Gly) SNV
Germline
Chr4:125452735 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3073901 rs_531337325

2 SubmittersRCV002137287RCV003250459

NM_001291303.3(FAT4):c.6050T>C (p.Val2017Ala) SNV
Germline
Chr4:125415013 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3072858 rs_188126059

3 SubmittersRCV002210305RCV004045635

NM_001291303.3(FAT4):c.13260G>A (p.Gln4420=) SNV
Germline
Chr4:125490076 Conflicting classifications of pathogenicity Condition: not provided
Hennekam lymphangiectasia-lymphedema syndrome 2
Van Maldergem syndrome 2
Criteria Provided
Conflicting Classifications
CA3074335 rs_770683738

3 SubmittersRCV002156138RCV005025716

NM_001291303.3(FAT4):c.11822T>C (p.Val3941Ala) SNV
Germline
Chr4:125463584 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
CA3073936 rs_578140620

2 SubmittersRCV002273577

NM_001291303.3(FAT4):c.12479+3A>G SNV
Germline
Chr4:125477337 Likely pathogenic Hennekam lymphangiectasia-lymphedema syndrome 2 No Assertion Criteria Provided
CA358131257 rs_2126083898

1 SubmittersRCV002274857

NM_001291303.3(FAT4):c.13588C>T (p.Gln4530Ter) SNV
Germline
Chr4:125490404 Pathogenic/Likely pathogenic Hennekam lymphangiectasia-lymphedema syndrome 2
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA358137084 rs_2530083642

2 SubmittersRCV002280920RCV006262403

NM_001291303.3(FAT4):c.6982G>T (p.Glu2328Ter) SNV
Germline
Chr4:125416586 Likely pathogenic Van Maldergem syndrome 2 Criteria Provided
Single Submitter
CA358131709 rs_1735081763

1 SubmittersRCV002291365

NM_001291303.3(FAT4):c.4037A>G (p.Asp1346Gly) SNV
Germline
Chr4:125320448 Conflicting classifications of pathogenicity Condition: not provided
Van Maldergem syndrome 2
Hennekam lymphangiectasia-lymphedema syndrome 2
Criteria Provided
Conflicting Classifications
CA3072404 rs_372013515

2 SubmittersRCV002595139RCV005028246

NM_001291303.3(FAT4):c.9412A>G (p.Ile3138Val) SNV
Germline
Chr4:125450422 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3073522 rs_149392444

2 SubmittersRCV002598812RCV006363176

NM_001291303.3(FAT4):c.3327C>T (p.Phe1109=) SNV
Germline
Chr4:125319738 Conflicting classifications of pathogenicity Condition: not provided
FAT4-related disorder
Van Maldergem syndrome 2
Hennekam lymphangiectasia-lymphedema syndrome 2
Criteria Provided
Conflicting Classifications
CA3072297 rs_763960674

3 SubmittersRCV002607131RCV003936604RCV005028272

NM_001291303.3(FAT4):c.235G>T (p.Ala79Ser) SNV
Germline
Chr4:125316646 Conflicting classifications of pathogenicity Condition: not provided
FAT4-related disorder
Hennekam lymphangiectasia-lymphedema syndrome 2
Van Maldergem syndrome 2
Criteria Provided
Conflicting Classifications
CA3071770 rs_767730943

3 SubmittersRCV002619114RCV003918913RCV005034737

NM_001291303.3(FAT4):c.2957T>A (p.Val986Asp) SNV
Germline
Chr4:125319368 Conflicting classifications of pathogenicity Condition: not provided
Van Maldergem syndrome 2
Hennekam lymphangiectasia-lymphedema syndrome 2
Criteria Provided
Conflicting Classifications
CA3072235 rs_192514171

2 SubmittersRCV003117866RCV005036659

NM_001291303.3(FAT4):c.4110G>A (p.Gly1370=) SNV
Germline
Chr4:125320521 Conflicting classifications of pathogenicity Condition: not provided
Hennekam lymphangiectasia-lymphedema syndrome 2
Van Maldergem syndrome 2
Criteria Provided
Conflicting Classifications
CA104866831 rs_752029128

2 SubmittersRCV003104511RCV005029895

NM_001291303.3(FAT4):c.6866G>A (p.Arg2289Gln) SNV
Germline
Chr4:125416470 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3073019 rs_767497964

2 SubmittersRCV002604801RCV006372949

NM_001291303.3(FAT4):c.2214C>A (p.Val738=) SNV
Germline
Chr4:125318625 Conflicting classifications of pathogenicity Condition: not provided
FAT4-related disorder
Criteria Provided
Conflicting Classifications
CA3072127 rs_753314680

2 SubmittersRCV002650501RCV003395501

NM_001291303.3(FAT4):c.5569+16C>G SNV
Germline
Chr4:125407157 Conflicting classifications of pathogenicity Condition: not provided
Van Maldergem syndrome 2
Hennekam lymphangiectasia-lymphedema syndrome 2
Criteria Provided
Conflicting Classifications
CA3072749 rs_201160284

2 SubmittersRCV002681213RCV005025949

NM_001291303.3(FAT4):c.13468G>A (p.Val4490Ile) SNV
Germline
Chr4:125490284 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3074377 rs_748064828

2 SubmittersRCV002775239RCV004067911

NM_001291303.3(FAT4):c.8536C>T (p.Arg2846Ter) SNV
Germline
Chr4:125449546 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA358146434 rs_2530896937

1 SubmittersRCV002872724

NM_001291303.3(FAT4):c.7504G>T (p.Glu2502Ter) SNV
Germline
Chr4:125448514 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA358140168 rs_2530889102

1 SubmittersRCV002938249

NM_001291303.3(FAT4):c.7054G>A (p.Val2352Ile) SNV
Germline
Chr4:125434280 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Van Maldergem syndrome 2
Hennekam lymphangiectasia-lymphedema syndrome 2
Criteria Provided
Conflicting Classifications
CA3073084 rs_147151922

3 SubmittersRCV002966556RCV004973773RCV005028065

NM_001291303.3(FAT4):c.3178C>T (p.Arg1060Cys) SNV
Germline
Chr4:125319589 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3072271 rs_200529379

2 SubmittersRCV002971276RCV002971277

NM_001291303.3(FAT4):c.6843+9A>G SNV
Germline
Chr4:125415815 Conflicting classifications of pathogenicity Condition: not provided
Van Maldergem syndrome 2
Hennekam lymphangiectasia-lymphedema syndrome 2
Criteria Provided
Conflicting Classifications
CA3072993 rs_776491302

2 SubmittersRCV002985429RCV005028092

NM_001291303.3(FAT4):c.10011T>G (p.Tyr3337Ter) SNV
Germline
Chr4:125451021 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA358156947 rs_2530907604

1 SubmittersRCV003026317

NM_001291303.3(FAT4):c.9125G>A (p.Trp3042Ter) SNV
Germline
Chr4:125450135 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA358150077 rs_2530901028

1 SubmittersRCV003039499

NM_001291303.3(FAT4):c.10752G>A (p.Leu3584=) SNV
Germline
Chr4:125451762 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
CA441372074 rs_1357511665

2 SubmittersRCV003147201

NM_001291303.3(FAT4):c.952C>T (p.Gln318Ter) SNV
Germline
Chr4:125317363 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA358116879 rs_760733250

1 SubmittersRCV003547196

NM_001291303.3(FAT4):c.3873G>T (p.Gly1291=) SNV
Germline
Chr4:125320284 Conflicting classifications of pathogenicity Condition: not provided
Hennekam lymphangiectasia-lymphedema syndrome 2
Van Maldergem syndrome 2
Criteria Provided
Conflicting Classifications
CA3072379 rs_764130442

2 SubmittersRCV003671619RCV005036915

NM_001291303.3(FAT4):c.10339G>T (p.Gly3447Ter) SNV
Germline
Chr4:125451349 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA358158251 rs_751776479

1 SubmittersRCV003680659

NM_001291303.3(FAT4):c.7018+2T>C SNV
Germline
Chr4:125416624 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
CA358131894 rs_2530788030

1 SubmittersRCV003685805

NM_001291303.3(FAT4):c.3040C>T (p.Arg1014Ter) SNV
Germline
Chr4:125319451 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA358121640 rs_1014593243

1 SubmittersRCV003709231

NM_001291303.3(FAT4):c.3922G>T (p.Glu1308Ter) SNV
Germline
Chr4:125320333 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA358125027 rs_2530446944

1 SubmittersRCV003721021

NM_001291303.3(FAT4):c.7919G>A (p.Trp2640Ter) SNV
Germline
Chr4:125448929 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA358144349 rs_2530892102

1 SubmittersRCV003716601

NM_001291303.3(FAT4):c.10030C>T (p.Arg3344Ter) SNV
Germline
Chr4:125451040 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA358157037 rs_1243659384

1 SubmittersRCV003690802

NM_001291303.3(FAT4):c.13431G>A (p.Gln4477=) SNV
Germline
Chr4:125490247 Conflicting classifications of pathogenicity Condition: not provided
Hennekam lymphangiectasia-lymphedema syndrome 2
Van Maldergem syndrome 2
Criteria Provided
Conflicting Classifications
CA441373746 rs_1727571378

2 SubmittersRCV003709821RCV005030208

NM_001291303.3(FAT4):c.134C>A (p.Pro45Gln) SNV
Germline
Chr4:125316545 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3071750 rs_766959653

2 SubmittersRCV003713403RCV006368495

NM_001291303.3(FAT4):c.8008A>G (p.Ile2670Val) SNV
Germline
Chr4:125449018 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3073297 rs_751270131

2 SubmittersRCV003727438RCV005834580

NM_001291303.3(FAT4):c.11481C>T (p.Ser3827=) SNV
Germline
Chr4:125452491 Conflicting classifications of pathogenicity Condition: not provided
Hennekam lymphangiectasia-lymphedema syndrome 2
Van Maldergem syndrome 2
Criteria Provided
Conflicting Classifications
CA3073858 rs_769466698

2 SubmittersRCV003828699RCV005030292

NM_001291303.3(FAT4):c.14766G>T (p.Lys4922Asn) SNV
Germline
Chr4:125491582 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3074622 rs_752311257

2 SubmittersRCV003824636RCV004366833

NM_001291303.3(FAT4):c.5955A>C (p.Ser1985=) SNV
Germline
Chr4:125414918 Conflicting classifications of pathogenicity Condition: not provided
Hennekam lymphangiectasia-lymphedema syndrome 2
Van Maldergem syndrome 2
Criteria Provided
Conflicting Classifications
CA3072845 rs_770793156

2 SubmittersRCV003856942RCV005030329

NM_001291303.3(FAT4):c.6772G>A (p.Val2258Ile) SNV
Germline
Chr4:125415735 Conflicting classifications of pathogenicity Inborn genetic diseases
Hennekam lymphangiectasia-lymphedema syndrome 2
Van Maldergem syndrome 2
Criteria Provided
Conflicting Classifications
CA3072983 rs_755536979

2 SubmittersRCV004386113RCV005030384

NM_001291303.3(FAT4):c.5704C>T (p.Arg1902Ter) SNV
Germline
Chr4:125408578 Pathogenic/Likely pathogenic Hennekam lymphangiectasia-lymphedema syndrome 2
Van Maldergem syndrome 2
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005027018RCV005623571

NM_001291303.3(FAT4):c.6810G>A (p.Glu2270=) SNV
Germline
Chr4:125415773 Conflicting classifications of pathogenicity Van Maldergem syndrome 2
Hennekam lymphangiectasia-lymphedema syndrome 2
Condition: not provided
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005027034RCV006264402

NM_001291303.3(FAT4):c.11571G>A (p.Ala3857=) SNV
Germline
Chr4:125452581 Conflicting classifications of pathogenicity Van Maldergem syndrome 2
Hennekam lymphangiectasia-lymphedema syndrome 2
Condition: not provided
Colon adenocarcinoma
Criteria Provided
Conflicting Classifications

3 SubmittersRCV005037424RCV005112844RCV005937640

NM_001291303.3(FAT4):c.12141A>G (p.Thr4047=) SNV
Germline
Chr4:125468747 Conflicting classifications of pathogenicity Van Maldergem syndrome 2
Hennekam lymphangiectasia-lymphedema syndrome 2
Condition: not provided
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005027102RCV005063281

NM_001291303.3(FAT4):c.8059C>T (p.Arg2687Ter) SNV
Germline
Chr4:125449069 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005171476

NM_001291303.3(FAT4):c.216C>G (p.Tyr72Ter) SNV
Germline
Chr4:125316627 Likely pathogenic Hennekam lymphangiectasia-lymphedema syndrome 2
Van Maldergem syndrome 2
Criteria Provided
Single Submitter

1 SubmittersRCV005400071

NM_001291303.3(FAT4):c.12299+1G>A SNV
Germline
Chr4:125476257 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV006497081

NM_001291303.3(FAT4):c.6887C>A (p.Ser2296Ter) SNV
Germline
Chr4:125416491 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV006513400

NM_001291303.3(FAT4):c.7787T>A (p.Leu2596Ter) SNV
Germline
Chr4:125448797 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV006588321