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.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 SubmittersRCV000074490 RCV000144157
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.7966A>C (p.Lys2656Gln)	SNV Germline	Chr4:125448976	Conflicting classifications of pathogenicity	Anophthalmia-microphthalmia syndrome Condition: not provided Van Maldergem syndrome 2 Hennekam lymphangiectasia-lymphedema syndrome 2	Criteria Provided Conflicting Classifications	CA071635	rs_760398912	4 SubmittersRCV000207371 RCV002517389 RCV005025338
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 SubmittersRCV000255467 RCV003458324
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 SubmittersRCV000421249 RCV000500269 RCV001270064 RCV003912598 RCV004022262
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 SubmittersRCV000483029 RCV001333192 RCV003902733
NM_001291303.3(FAT4):c.6977C>T (p.Thr2326Ile)	SNV Germline	Chr4:125416581	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	CA3073042	rs_200344386	8 SubmittersRCV000488172 RCV002525999 RCV004751563 RCV005027563
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 SubmittersRCV001700194 RCV003458201
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 SubmittersRCV000493492 RCV005027572
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 SubmittersRCV000497799 RCV002527139 RCV005034038
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 SubmittersRCV000498993 RCV001333189 RCV002524078
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 SubmittersRCV000839511 RCV002053128 RCV003965623
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 SubmittersRCV000910780 RCV005029530
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 SubmittersRCV000943293 RCV005029539
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 SubmittersRCV000939512 RCV005036253
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 SubmittersRCV000998295 RCV002549085 RCV005029559
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 SubmittersRCV001760325 RCV002537935 RCV003928818 RCV005394899
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	6 SubmittersRCV001309974 RCV002543538 RCV003883174 RCV003938613 RCV005626390
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 SubmittersRCV001334203 RCV002070181 RCV003953673
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 SubmittersRCV001333188 RCV002070173 RCV003953671 RCV005023058
NM_001291303.3(FAT4):c.1244C>G (p.Pro415Arg)	SNV Germline	Chr4:125317655	Conflicting classifications of pathogenicity	Condition: not provided Gastric cancer Van Maldergem syndrome 2 Hennekam lymphangiectasia-lymphedema syndrome 2	Criteria Provided Conflicting Classifications	CA3071947	rs_746792200	3 SubmittersRCV001439930 RCV005912767 RCV005038222
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 SubmittersRCV001436319 RCV005023165
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 SubmittersRCV001457322 RCV005023169
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 SubmittersRCV001491405 RCV005023174
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 SubmittersRCV001512581 RCV002071879 RCV004980576
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 SubmittersRCV001562721 RCV002573178 RCV005038263
NM_001291303.3(FAT4):c.2273C>T (p.Ala758Val)	SNV Germline	Chr4:125318684	Conflicting classifications of pathogenicity	Condition: not provided Van Maldergem syndrome 2 Hennekam lymphangiectasia-lymphedema syndrome 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3072137	rs_570502199	5 SubmittersRCV001593458 RCV005038272 RCV005341028
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 SubmittersRCV001665155 RCV006453731 RCV005023211
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 SubmittersRCV001757908 RCV005038289
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 SubmittersRCV001772484 RCV004728795
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 SubmittersRCV001773189 RCV002540567 RCV005023244
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 SubmittersRCV001797507 RCV005023259
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 SubmittersRCV001820717 RCV002542052 RCV002545160 RCV005038343 RCV005626502
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 SubmittersRCV001894673 RCV005038399
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 SubmittersRCV001878306 RCV004728860 RCV005922880
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 SubmittersRCV001961819 RCV003941184 RCV004728872 RCV005831995
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 SubmittersRCV002022057 RCV005025575
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 SubmittersRCV001931495 RCV005023477
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 SubmittersRCV001985210 RCV004728980
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 SubmittersRCV002011898 RCV005025494 RCV005834138
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 SubmittersRCV002182324 RCV005025684
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 SubmittersRCV002112109 RCV005025698 RCV004976239
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 SubmittersRCV002081016 RCV003893233 RCV005032157
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 SubmittersRCV002211928 RCV005025690 RCV004045591
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 SubmittersRCV002135431 RCV005025713
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 SubmittersRCV002153820 RCV005032181
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 SubmittersRCV002101210 RCV005032163
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 SubmittersRCV002212350 RCV003968785 RCV005025691
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 SubmittersRCV002121869 RCV005032175 RCV005834222
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 SubmittersRCV002117441 RCV005025706
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 SubmittersRCV002101047 RCV005032162
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 SubmittersRCV002101164 RCV005025701
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 SubmittersRCV002135161 RCV003061768 RCV005032176
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 SubmittersRCV002132350 RCV005032166
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 SubmittersRCV002101389 RCV003339926 RCV005025702
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 SubmittersRCV002216218 RCV005025692 RCV003355800
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 SubmittersRCV002156138 RCV005025716
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 SubmittersRCV002280920 RCV006262403
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 SubmittersRCV002595139 RCV005028246
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 SubmittersRCV002607131 RCV003936604 RCV005028272
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 SubmittersRCV002619114 RCV003918913 RCV005034737
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 SubmittersRCV003117866 RCV005036659
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 SubmittersRCV003104511 RCV005029895
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 SubmittersRCV002681213 RCV005025949
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 SubmittersRCV002966556 RCV004973773 RCV005028065
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 SubmittersRCV002985429 RCV005028092
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 SubmittersRCV003671619 RCV005036915
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 SubmittersRCV003709821 RCV005030208
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 SubmittersRCV003828699 RCV005030292
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 SubmittersRCV003856942 RCV005030329
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 SubmittersRCV004386113 RCV005030384
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 SubmittersRCV005027018 RCV005623571
NM_001291303.3(FAT4):c.6810G>A (p.Glu2270=)	SNV Germline	Chr4:125415773	Conflicting classifications of pathogenicity	Hennekam lymphangiectasia-lymphedema syndrome 2 Van Maldergem syndrome 2 Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV005027034 RCV006264402
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 SubmittersRCV005037424 RCV005112844 RCV005937640
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 SubmittersRCV005027102 RCV005063281
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.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 SubmittersRCV000074490 RCV000144157

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.7966A>C (p.Lys2656Gln)

SNV
Germline

Chr4:125448976

Conflicting classifications of pathogenicity

Anophthalmia-microphthalmia syndrome
Condition: not provided
Van Maldergem syndrome 2
Hennekam lymphangiectasia-lymphedema syndrome 2

Criteria Provided
Conflicting Classifications

CA071635

rs_760398912

4 SubmittersRCV000207371 RCV002517389 RCV005025338

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 SubmittersRCV000255467 RCV003458324

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 SubmittersRCV000421249 RCV000500269 RCV001270064 RCV003912598 RCV004022262

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 SubmittersRCV000483029 RCV001333192 RCV003902733

NM_001291303.3(FAT4):c.6977C>T (p.Thr2326Ile)

SNV
Germline

Chr4:125416581

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

CA3073042

rs_200344386

8 SubmittersRCV000488172 RCV002525999 RCV004751563 RCV005027563

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 SubmittersRCV001700194 RCV003458201

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 SubmittersRCV000493492 RCV005027572

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 SubmittersRCV000497799 RCV002527139 RCV005034038

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 SubmittersRCV000498993 RCV001333189 RCV002524078

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 SubmittersRCV000839511 RCV002053128 RCV003965623

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 SubmittersRCV000910780 RCV005029530

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 SubmittersRCV000943293 RCV005029539

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 SubmittersRCV000939512 RCV005036253

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 SubmittersRCV000998295 RCV002549085 RCV005029559

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 SubmittersRCV001760325 RCV002537935 RCV003928818 RCV005394899

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

6 SubmittersRCV001309974 RCV002543538 RCV003883174 RCV003938613 RCV005626390

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 SubmittersRCV001334203 RCV002070181 RCV003953673

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 SubmittersRCV001333188 RCV002070173 RCV003953671 RCV005023058

NM_001291303.3(FAT4):c.1244C>G (p.Pro415Arg)

SNV
Germline

Chr4:125317655

Conflicting classifications of pathogenicity

Condition: not provided
Gastric cancer
Van Maldergem syndrome 2
Hennekam lymphangiectasia-lymphedema syndrome 2

Criteria Provided
Conflicting Classifications

CA3071947

rs_746792200

3 SubmittersRCV001439930 RCV005912767 RCV005038222

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 SubmittersRCV001436319 RCV005023165

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 SubmittersRCV001457322 RCV005023169

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 SubmittersRCV001491405 RCV005023174

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 SubmittersRCV001512581 RCV002071879 RCV004980576

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 SubmittersRCV001562721 RCV002573178 RCV005038263

NM_001291303.3(FAT4):c.2273C>T (p.Ala758Val)

SNV
Germline

Chr4:125318684

Conflicting classifications of pathogenicity

Condition: not provided
Van Maldergem syndrome 2
Hennekam lymphangiectasia-lymphedema syndrome 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3072137

rs_570502199

5 SubmittersRCV001593458 RCV005038272 RCV005341028

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 SubmittersRCV001665155 RCV006453731 RCV005023211

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 SubmittersRCV001757908 RCV005038289

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 SubmittersRCV001772484 RCV004728795

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 SubmittersRCV001773189 RCV002540567 RCV005023244

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 SubmittersRCV001797507 RCV005023259

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 SubmittersRCV001820717 RCV002542052 RCV002545160 RCV005038343 RCV005626502

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 SubmittersRCV001894673 RCV005038399

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 SubmittersRCV001878306 RCV004728860 RCV005922880

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 SubmittersRCV001961819 RCV003941184 RCV004728872 RCV005831995

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 SubmittersRCV002022057 RCV005025575

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 SubmittersRCV001931495 RCV005023477

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 SubmittersRCV001985210 RCV004728980

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 SubmittersRCV002011898 RCV005025494 RCV005834138

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 SubmittersRCV002182324 RCV005025684

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 SubmittersRCV002112109 RCV005025698 RCV004976239

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 SubmittersRCV002081016 RCV003893233 RCV005032157

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 SubmittersRCV002211928 RCV005025690 RCV004045591

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 SubmittersRCV002135431 RCV005025713

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 SubmittersRCV002153820 RCV005032181

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 SubmittersRCV002101210 RCV005032163

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 SubmittersRCV002212350 RCV003968785 RCV005025691

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 SubmittersRCV002121869 RCV005032175 RCV005834222

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 SubmittersRCV002117441 RCV005025706

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 SubmittersRCV002101047 RCV005032162

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 SubmittersRCV002101164 RCV005025701

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 SubmittersRCV002135161 RCV003061768 RCV005032176

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 SubmittersRCV002132350 RCV005032166

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 SubmittersRCV002101389 RCV003339926 RCV005025702

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 SubmittersRCV002216218 RCV005025692 RCV003355800

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 SubmittersRCV002156138 RCV005025716

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 SubmittersRCV002280920 RCV006262403

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 SubmittersRCV002595139 RCV005028246

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 SubmittersRCV002607131 RCV003936604 RCV005028272

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 SubmittersRCV002619114 RCV003918913 RCV005034737

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 SubmittersRCV003117866 RCV005036659

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 SubmittersRCV003104511 RCV005029895

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 SubmittersRCV002681213 RCV005025949

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 SubmittersRCV002966556 RCV004973773 RCV005028065

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 SubmittersRCV002985429 RCV005028092

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 SubmittersRCV003671619 RCV005036915

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 SubmittersRCV003709821 RCV005030208

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 SubmittersRCV003828699 RCV005030292

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 SubmittersRCV003856942 RCV005030329

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 SubmittersRCV004386113 RCV005030384

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 SubmittersRCV005027018 RCV005623571

NM_001291303.3(FAT4):c.6810G>A (p.Glu2270=)

SNV
Germline

Chr4:125415773

Conflicting classifications of pathogenicity

Hennekam lymphangiectasia-lymphedema syndrome 2
Van Maldergem syndrome 2
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005027034 RCV006264402

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 SubmittersRCV005037424 RCV005112844 RCV005937640

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 SubmittersRCV005027102 RCV005063281

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