Total 24 pathogenic variants reported for Hereditary lymphedema type I 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_182925.5(FLT4):c.2569G>A (p.Gly857Arg) SNV
Germline		 Chr5:180619743 Pathogenic Hereditary lymphedema type I
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA257464 rs_267606818

3 SubmittersRCV000017647RCV003441720
NM_182925.5(FLT4):c.3122G>C (p.Arg1041Pro) SNV
Germline		 Chr5:180616464 Pathogenic Hereditary lymphedema type I
Condition: not provided
FLT4-related disorder		 Criteria Provided
Single Submitter
 CA257465 rs_121909650

3 SubmittersRCV000017648RCV004719652RCV004751213
NM_182925.5(FLT4):c.3131T>C (p.Leu1044Pro) SNV
Germline		 Chr5:180616455 Pathogenic Hereditary lymphedema type I No Assertion Criteria Provided
 CA257466 rs_121909651

1 SubmittersRCV000017649
NM_182925.5(FLT4):c.3341C>T (p.Pro1114Leu) SNV
Germline		 Chr5:180613101 Likely pathogenic Hereditary lymphedema type I
Condition: not provided		 Criteria Provided
Single Submitter
 CA257467 rs_121909652

2 SubmittersRCV000017650RCV005000985
NM_182925.5(FLT4):c.3104A>G (p.His1035Arg) SNV
Germline		 Chr5:180616482 Pathogenic Hereditary lymphedema type I No Assertion Criteria Provided
 CA126342 rs_121909653

1 SubmittersRCV000017651
NM_182925.5(FLT4):c.2632G>A (p.Val878Met) SNV
Germline		 Chr5:180619680 Pathogenic Hereditary lymphedema type I No Assertion Criteria Provided
 CA257468 rs_121909654

1 SubmittersRCV000017653
NM_182925.5(FLT4):c.3257T>C (p.Ile1086Thr) SNV
Germline		 Chr5:180614142 Pathogenic/Likely pathogenic Hereditary lymphedema type I
FLT4-related disorder		 No Assertion Criteria Provided
 CA257470 rs_121909655

2 SubmittersRCV000017654RCV003398529
NM_182925.5(FLT4):c.3316G>A (p.Glu1106Lys) SNV
Germline		 Chr5:180614083 Pathogenic Hereditary lymphedema type I No Assertion Criteria Provided
 CA257472 rs_121909656

1 SubmittersRCV000017655
NM_182925.5(FLT4):c.3121C>T (p.Arg1041Trp) SNV
Germline		 Chr5:180616465 Pathogenic/Likely pathogenic Hereditary lymphedema type I
Condition: not provided
FLT4-related disorder
Non-immune hydrops fetalis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA362500582 rs_1451816005

5 SubmittersRCV000853321RCV002305552RCV004751756RCV005359605
NM_182925.5(FLT4):c.3410C>T (p.Pro1137Leu) SNV
Germline		 Chr5:180613032 Likely pathogenic Hereditary lymphedema type I
Condition: not provided
Capillary infantile hemangioma
Hereditary lymphedema type I
Congenital heart defects, multiple types, 7
FLT4-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA362499924 rs_1762335528

5 SubmittersRCV001199191RCV004773313RCV004796370RCV003393877
NM_004444.5(EPHB4):c.1423-6G>A SNV
Germline		 Chr7:100817363 Pathogenic/Likely pathogenic Condition: not provided
Hereditary lymphedema type I		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4392981 rs_762817852

4 SubmittersRCV001810558RCV002274179
NM_182925.5(FLT4):c.3821A>T (p.Asp1274Val) SNV
Germline		 Chr5:180609040 Likely pathogenic Hereditary lymphedema type I Criteria Provided
Single Submitter
 CA362497824 rs_1761973773

1 SubmittersRCV001331922
NM_182925.5(FLT4):c.1472C>T (p.Ala491Val) SNV
Germline		 Chr5:180624011 Conflicting classifications of pathogenicity Condition: not provided
Hereditary lymphedema type I		 Criteria Provided
Conflicting Classifications
 CA3606713 rs_146167161

3 SubmittersRCV001477700RCV005051906
NM_182925.5(FLT4):c.3023C>T (p.Pro1008Leu) SNV
Germline		 Chr5:180616973 Conflicting classifications of pathogenicity Condition: not provided
FLT4-related disorder
Hereditary lymphedema type I		 Criteria Provided
Conflicting Classifications
 CA3606016 rs_149033942

6 SubmittersRCV001723509RCV003956340RCV003451863
NM_004444.5(EPHB4):c.2011T>C (p.Phe671Leu) SNV
Germline		 Chr7:100812854 Pathogenic Hereditary lymphedema type I Criteria Provided
Single Submitter
 CA368570186 rs_2116431707

1 SubmittersRCV002274298
NM_182925.5(FLT4):c.3122G>A (p.Arg1041Gln) SNV
Germline		 Chr5:180616464 Pathogenic/Likely pathogenic Condition: not provided
Hereditary lymphedema type I		 Criteria Provided
Multiple Submitters
No Conflicts
 CA362500581 rs_121909650

2 SubmittersRCV002293872RCV003340475
NM_182925.5(FLT4):c.3332G>A (p.Gly1111Glu) SNV
Germline		 Chr5:180613110 Pathogenic Hereditary lymphedema type I Criteria Provided
Single Submitter
 CA362500098 rs_2480842959

1 SubmittersRCV003154635
NM_182925.5(FLT4):c.2771T>A (p.Met924Lys) SNV
Germline		 Chr5:180619100 Pathogenic Hereditary lymphedema type I No Assertion Criteria Provided
 CA362501374 rs_2480884226

1 SubmittersRCV003445409
NM_182925.5(FLT4):c.3109G>A (p.Asp1037Asn) SNV
Germline		 Chr5:180616477 Pathogenic Hereditary lymphedema type I No Assertion Criteria Provided
 CA362500608 rs_2480865554

1 SubmittersRCV003445410
NM_182925.5(FLT4):c.3955C>T (p.Arg1319Trp) SNV
Germline		 Chr5:180603329 Conflicting classifications of pathogenicity Inborn genetic diseases
Hereditary lymphedema type I		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV004625883RCV005863907
NM_182925.5(FLT4):c.2741G>A (p.Gly914Glu) SNV
Germline		 Chr5:180619273 Likely pathogenic Hereditary lymphedema type I Criteria Provided
Single Submitter

1 SubmittersRCV005415526
NM_182925.5(FLT4):c.3410C>G (p.Pro1137Arg) SNV
Germline		 Chr5:180613032 Likely pathogenic Hereditary lymphedema type I Criteria Provided
Single Submitter

1 SubmittersRCV006259785