Total 20 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 SubmittersRCV000017647 RCV003441720
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 SubmittersRCV000017648 RCV004719652 RCV004751213
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 SubmittersRCV000017650 RCV005000985
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 SubmittersRCV000017654 RCV003398529
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	Criteria Provided Multiple Submitters No Conflicts		rs_1451816005	3 SubmittersRCV000853321 RCV002305552 RCV004751756
NM_182925.5(FLT4):c.3410C>T (p.Pro1137Leu)	SNV Germline	Chr5:180613032	Likely pathogenic	Hereditary lymphedema type I Condition: not provided Hereditary lymphedema type I Congenital heart defects, multiple types, 7 Capillary infantile hemangioma FLT4-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_1762335528	5 SubmittersRCV001199191 RCV004773313 RCV004796370 RCV003393877
NM_004444.5(EPHB4):c.1423-6G>A	SNV Germline	Chr7:100817363	Pathogenic/Likely pathogenic	Hereditary lymphedema type I Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_762817852	4 SubmittersRCV002274179 RCV001810558
NM_182925.5(FLT4):c.3821A>T (p.Asp1274Val)	SNV Germline	Chr5:180609040	Likely pathogenic	Hereditary lymphedema type I	Criteria Provided Single Submitter		rs_1761973773	1 SubmittersRCV001331922
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		rs_149033942	6 SubmittersRCV001723509 RCV003956340 RCV003451863
NM_004444.5(EPHB4):c.2011T>C (p.Phe671Leu)	SNV Germline	Chr7:100812854	Pathogenic	Hereditary lymphedema type I	Criteria Provided Single Submitter		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			2 SubmittersRCV002293872 RCV003340475
NM_182925.5(FLT4):c.3332G>A (p.Gly1111Glu)	SNV Germline	Chr5:180613110	Pathogenic	Hereditary lymphedema type I	Criteria Provided Single Submitter			1 SubmittersRCV003154635
NM_182925.5(FLT4):c.2771T>A (p.Met924Lys)	SNV Germline	Chr5:180619100	Pathogenic	Hereditary lymphedema type I	No Assertion Criteria Provided			1 SubmittersRCV003445409
NM_182925.5(FLT4):c.3109G>A (p.Asp1037Asn)	SNV Germline	Chr5:180616477	Pathogenic	Hereditary lymphedema type I	No Assertion Criteria Provided			1 SubmittersRCV003445410