Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_020779.4(WDR35):c.25-2A>G	SNV Germline	Chr2:19989284	Pathogenic	Cranioectodermal dysplasia 2	No Assertion Criteria Provided	CA113807	rs_397515534	1 SubmittersRCV000000037
NM_020779.4(WDR35):c.1844A>G (p.Glu615Gly)	SNV Germline	Chr2:19945787	Pathogenic	Cranioectodermal dysplasia 2	No Assertion Criteria Provided	CA339780	rs_267607174	2 SubmittersRCV000000038
NM_020779.4(WDR35):c.2590G>A (p.Ala864Thr)	SNV Germline	Chr2:19933469	Likely pathogenic	Cranioectodermal dysplasia 2 Condition: not provided	Criteria Provided Single Submitter	CA339782	rs_267607175	2 SubmittersRCV000000040 RCV000508347
NM_030916.3(NECTIN4):c.851G>A (p.Arg284Gln)	SNV Germline	Chr1:161076355	Pathogenic	Ectodermal dysplasia-syndactyly syndrome 1	No Assertion Criteria Provided	CA115101	rs_267606991	1 SubmittersRCV000001667
NM_030916.3(NECTIN4):c.554C>T (p.Thr185Met)	SNV Germline	Chr1:161077629	Pathogenic	Ectodermal dysplasia-syndactyly syndrome 1	No Assertion Criteria Provided	CA115103	rs_267606992	1 SubmittersRCV000001668
NM_145861.4(EDARADD):c.454G>A (p.Glu152Lys)	SNV Germline	Chr1:236482455	Likely pathogenic	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant	Criteria Provided Single Submitter	CA019415	rs_74315309	3 SubmittersRCV000004407 RCV001729334 RCV004798715
NM_145861.4(EDARADD):c.365T>G (p.Leu122Arg)	SNV Germline	Chr1:236482366	Pathogenic	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	No Assertion Criteria Provided	CA019395	rs_121908116	2 SubmittersRCV000004408 RCV000055985
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter)	SNV Germline	Chr2:218882368	Pathogenic	Odonto-onycho-dermal dysplasia Schöpf-Schulz-Passarge syndrome Tooth agenesis, selective, 4 Condition: not provided Inborn genetic diseases Tooth agenesis, selective, 4 Schöpf-Schulz-Passarge syndrome Odonto-onycho-dermal dysplasia Tooth agenesis, selective, 4 Odonto-onycho-dermal dysplasia WNT10A-related disorder Ectodermal dysplasia not specified	Criteria Provided Multiple Submitters No Conflicts	CA116865	rs_121908119	31 SubmittersRCV000004715 RCV000004716 RCV000030650 RCV000255732 RCV000190800 RCV000477935 RCV000536747 RCV000779308 RCV001729335 RCV002247247
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile)	SNV Germline	Chr2:218890289	Conflicting classifications of pathogenicity	Odonto-onycho-dermal dysplasia Tooth agenesis, selective, 4 Tooth agenesis Condition: not provided Ectodermal dysplasia Tooth agenesis, selective, 4 Odonto-onycho-dermal dysplasia Tooth agenesis, selective, 4 Odonto-onycho-dermal dysplasia Schöpf-Schulz-Passarge syndrome Inborn genetic diseases Tooth agenesis, selective, 4 Schöpf-Schulz-Passarge syndrome Hypohidrotic ectodermal dysplasia Ectodermal dysplasia WNT10A related WNT10A-related disorder See cases	Criteria Provided Conflicting Classifications	CA116867	rs_121908120	34 SubmittersRCV000004717 RCV000445356 RCV000845113 RCV000255788 RCV001729336 RCV000550721 RCV001535660 RCV000622932 RCV001813948 RCV000754840 RCV005249981 RCV004528071 RCV004584315
NM_052989.3(IFT122):c.1505T>G (p.Val502Gly)	SNV Germline	Chr3:129481546	Pathogenic	Cranioectodermal dysplasia 1	No Assertion Criteria Provided	CA340274	rs_267607191	2 SubmittersRCV000004898
NM_052989.3(IFT122):c.965C>T (p.Ser322Phe)	SNV Germline	Chr3:129476463	Likely pathogenic	Cranioectodermal dysplasia 1	Criteria Provided Single Submitter	CA340276	rs_267607192	3 SubmittersRCV000004899
NM_052989.3(IFT122):c.21G>C (p.Trp7Cys)	SNV Germline	Chr3:129440351	Pathogenic	Cranioectodermal dysplasia 1	No Assertion Criteria Provided	CA340279	rs_267607193	2 SubmittersRCV000004901
NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg)	SNV Germline	Chr13:20223450	Pathogenic	Hidrotic ectodermal dysplasia syndrome Condition: not provided Autosomal dominant nonsyndromic hearing loss 3B Hidrotic ectodermal dysplasia syndrome Autosomal recessive nonsyndromic hearing loss 1B Autosomal recessive nonsyndromic hearing loss 1A GJB6-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA253526	rs_104894415	11 SubmittersRCV000005882 RCV000255581 RCV000645727 RCV003335016
NM_001110219.3(GJB6):c.263C>T (p.Ala88Val)	SNV Germline	Chr13:20223218	Pathogenic	Hidrotic ectodermal dysplasia syndrome Hidrotic ectodermal dysplasia syndrome Autosomal recessive nonsyndromic hearing loss 1B Autosomal dominant nonsyndromic hearing loss 3B Autosomal recessive nonsyndromic hearing loss 1A Hidrotic ectodermal dysplasia syndrome Autosomal recessive nonsyndromic hearing loss 1B Autosomal dominant nonsyndromic hearing loss 3B X-linked mixed hearing loss with perilymphatic gusher Autosomal recessive nonsyndromic hearing loss 1A	Criteria Provided Multiple Submitters No Conflicts	CA253528	rs_28937872	4 SubmittersRCV000005883 RCV000798432 RCV002504751
NM_001110219.3(GJB6):c.110T>A (p.Val37Glu)	SNV Germline	Chr13:20223371	Pathogenic	Hidrotic ectodermal dysplasia syndrome	No Assertion Criteria Provided	CA253530	rs_104894416	1 SubmittersRCV000005886
NM_022336.4(EDAR):c.266G>A (p.Arg89His)	SNV Germline	Chr2:108929288	Pathogenic	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant Mitochondrial DNA depletion syndrome 4b Progressive sclerosing poliodystrophy Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	Criteria Provided Multiple Submitters No Conflicts	CA130257	rs_121908450	4 SubmittersRCV000006206 RCV000032598 RCV000681480 RCV001253315 RCV001038628
NM_022336.4(EDAR):c.1072C>T (p.Arg358Ter)	SNV Germline	Chr2:108897182	Pathogenic	Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant Condition: not provided Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Non-syndromic oligodontia Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	Criteria Provided Multiple Submitters No Conflicts	CA117808	rs_121908452	6 SubmittersRCV000006210 RCV000255664 RCV000532015 RCV001261883 RCV003505080
NM_022336.4(EDAR):c.1259G>A (p.Arg420Gln)	SNV Germline	Chr2:108896995	Pathogenic/Likely pathogenic	Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant Condition: not provided Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	Criteria Provided Multiple Submitters No Conflicts	CA117810	rs_121908453	9 SubmittersRCV000006211 RCV000255701 RCV001050412 RCV001334149 RCV000755721
NM_022336.4(EDAR):c.51+1G>A	SNV Germline	Chr2:108930963	Pathogenic	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	No Assertion Criteria Provided	CA253630	rs_797044435	1 SubmittersRCV000006212
NM_022336.4(EDAR):c.1124G>A (p.Arg375His)	SNV Germline	Chr2:108897130	Likely pathogenic	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive Condition: not provided	Criteria Provided Single Submitter	CA253631	rs_121908454	2 SubmittersRCV000006213 RCV005251019
NM_022336.4(EDAR):c.329A>C (p.Asp110Ala)	SNV Germline	Chr2:108929225	Pathogenic	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	No Assertion Criteria Provided	CA253632	rs_121908455	1 SubmittersRCV000006214
NM_022336.4(EDAR):c.1060G>T (p.Glu354Ter)	SNV Germline	Chr2:108897194	Pathogenic	Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant	No Assertion Criteria Provided	CA117811	rs_121908456	1 SubmittersRCV000006215
NM_022336.4(EDAR):c.803+1G>A	SNV Germline	Chr2:108910459	Pathogenic	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive Ectodermal dysplasia	No Assertion Criteria Provided	CA253634	rs_797044437	2 SubmittersRCV000006218 RCV001729338
NM_003722.5(TP63):c.727C>T (p.Arg243Trp)	SNV Germline	Chr3:189864379	Pathogenic	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 Condition: not provided TP63-Related Spectrum Disorders Rapp-Hodgkin syndrome 8 conditions	Criteria Provided Multiple Submitters No Conflicts	CA118334	rs_121908835	10 SubmittersRCV000006900 RCV000394306 RCV000812084 RCV002283440 RCV005025017
NM_003722.5(TP63):c.728G>A (p.Arg243Gln)	SNV Germline	Chr3:189864380	Pathogenic	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 Condition: not provided TP63-Related Spectrum Disorders Split hand-foot malformation 4	Criteria Provided Multiple Submitters No Conflicts	CA118335	rs_121908836	4 SubmittersRCV000006901 RCV001804714 RCV000705452 RCV002250454
NM_003722.5(TP63):c.1033T>C (p.Cys345Arg)	SNV Germline	Chr3:189868620	Pathogenic	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3	No Assertion Criteria Provided	CA118336	rs_121908837	1 SubmittersRCV000006902
NM_003722.5(TP63):c.955C>T (p.Arg319Cys)	SNV Germline	Chr3:189867905	Pathogenic	Split hand-foot malformation 4 Condition: not provided TP63-Related Spectrum Disorders Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3	Criteria Provided Multiple Submitters No Conflicts	CA118338	rs_121908839	7 SubmittersRCV000006905 RCV001280776 RCV002512857 RCV003162215
NM_003722.5(TP63):c.953G>A (p.Arg318His)	SNV Germline	Chr3:189867903	Pathogenic/Likely pathogenic	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 Rapp-Hodgkin syndrome Condition: not provided TP63-Related Spectrum Disorders	Criteria Provided Multiple Submitters No Conflicts	CA118339	rs_121908840	6 SubmittersRCV000006906 RCV000006907 RCV000478736 RCV000548176
NM_003722.5(TP63):c.1028G>A (p.Arg343Gln)	SNV Germline	Chr3:189868615	Pathogenic/Likely pathogenic	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 Condition: not provided TP63-Related Spectrum Disorders Inborn genetic diseases 8 conditions	Criteria Provided Multiple Submitters No Conflicts	CA118340	rs_121908841	7 SubmittersRCV000006908 RCV000276670 RCV000655484 RCV001266717 RCV005025018
NM_003722.5(TP63):c.1052A>G (p.Asp351Gly)	SNV Germline	Chr3:189868639	Pathogenic	Condition: not provided Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3	Criteria Provided Single Submitter	CA118341	rs_121908844	2 SubmittersRCV000326964 RCV000006915
NM_003722.5(TP63):c.797G>A (p.Arg266Gln)	SNV Germline	Chr3:189866712	Pathogenic/Likely pathogenic	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 ADULT syndrome Condition: not provided TP63-Related Spectrum Disorders	Criteria Provided Multiple Submitters No Conflicts	CA118348	rs_121908849	7 SubmittersRCV000006925 RCV000006926 RCV000413620 RCV001390108
NM_002855.5(NECTIN1):c.554G>A (p.Trp185Ter)	SNV Germline	Chr11:119677734	Pathogenic	Cleft lip/palate-ectodermal dysplasia syndrome Orofacial cleft 7	No Assertion Criteria Provided	CA120022	rs_104894281	1 SubmittersRCV000009531 RCV000009532
NM_001399.5(EDA):c.181T>C (p.Tyr61His)	SNV Germline	ChrX:69616489	Pathogenic/Likely pathogenic	Hypohidrotic X-linked ectodermal dysplasia Tooth agenesis, selective, X-linked, 1 Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Multiple Submitters No Conflicts	CA255649	rs_132630308	3 SubmittersRCV000011778 RCV000763629
NM_001399.5(EDA):c.206G>T (p.Arg69Leu)	SNV Germline	ChrX:69616514	Conflicting classifications of pathogenicity	Hypohidrotic X-linked ectodermal dysplasia not specified Condition: not provided EDA-related disorder	Criteria Provided Conflicting Classifications	CA255650	rs_132630309	17 SubmittersRCV000011779 RCV000218834 RCV000432524 RCV003894799
NM_001399.5(EDA):c.67C>T (p.Gln23Ter)	SNV Germline	ChrX:69616375	Pathogenic	Hypohidrotic X-linked ectodermal dysplasia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA255651	rs_132630310	3 SubmittersRCV000011780 RCV004786252
NM_001399.5(EDA):c.187G>A (p.Glu63Lys)	SNV Germline	ChrX:69616495	Pathogenic	Hypohidrotic X-linked ectodermal dysplasia	No Assertion Criteria Provided	CA255653	rs_132630311	1 SubmittersRCV000011781
NM_001399.5(EDA):c.463C>T (p.Arg155Cys)	SNV Germline	ChrX:69957093	Pathogenic	Hypohidrotic X-linked ectodermal dysplasia Condition: not provided Hypohidrotic X-linked ectodermal dysplasia Tooth agenesis, selective, X-linked, 1	Criteria Provided Multiple Submitters No Conflicts	CA255654	rs_132630312	12 SubmittersRCV000011782 RCV000254983 RCV000763630
NM_001399.5(EDA):c.466C>T (p.Arg156Cys)	SNV Germline	ChrX:69957096	Pathogenic/Likely pathogenic	Hypohidrotic X-linked ectodermal dysplasia Condition: not provided EDA-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA255655	rs_132630313	7 SubmittersRCV000011783 RCV000414306 RCV003390668
NM_001399.5(EDA):c.467G>A (p.Arg156His)	SNV Germline	ChrX:69957097	Pathogenic	Hypohidrotic X-linked ectodermal dysplasia Condition: not provided Hypohidrotic X-linked ectodermal dysplasia Tooth agenesis, selective, X-linked, 1	Criteria Provided Multiple Submitters No Conflicts	CA261114	rs_132630314	5 SubmittersRCV000032612 RCV000255365 RCV002490354
NM_001399.5(EDA):c.626C>T (p.Pro209Leu)	SNV Germline	ChrX:70027956	Conflicting classifications of pathogenicity	Hypohidrotic X-linked ectodermal dysplasia not specified	Criteria Provided Conflicting Classifications	CA181048	rs_132630315	3 SubmittersRCV000011785 RCV000154610
NM_001399.5(EDA):c.671G>C (p.Gly224Ala)	SNV Germline	ChrX:70028001	Pathogenic	Hypohidrotic X-linked ectodermal dysplasia	No Assertion Criteria Provided	CA255656	rs_132630316	1 SubmittersRCV000011786
NM_001399.5(EDA):c.1045G>A (p.Ala349Thr)	SNV Germline	ChrX:70035478	Pathogenic	Hypohidrotic X-linked ectodermal dysplasia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA255657	rs_132630317	3 SubmittersRCV000011787 RCV000255050
NM_001399.5(EDA):c.183C>G (p.Tyr61Ter)	SNV Germline	ChrX:69616491	Pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Single Submitter	CA255658	rs_132630318	2 SubmittersRCV000011788
NM_001399.5(EDA):c.1013C>T (p.Thr338Met)	SNV Germline	ChrX:70035446	Pathogenic	Tooth agenesis, selective, X-linked, 1 Hypohidrotic X-linked ectodermal dysplasia Hypohidrotic X-linked ectodermal dysplasia Tooth agenesis, selective, X-linked, 1	Criteria Provided Multiple Submitters No Conflicts	CA121314	rs_132630321	4 SubmittersRCV000011795 RCV001205829 RCV005049332
NM_001099857.5(IKBKG):c.1259A>G (p.Ter420Trp)	SNV Germline	ChrX:154564460	Pathogenic	Incontinentia pigmenti syndrome ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1, MALE-RESTRICTED	No Assertion Criteria Provided	CA121467	rs_137853321	1 SubmittersRCV000170521 RCV000012203
NM_001099857.5(IKBKG):c.1171G>T (p.Glu391Ter)	SNV Germline	ChrX:154564372	Pathogenic	Ectodermal dysplasia and immunodeficiency 1 Condition: not provided	Criteria Provided Single Submitter	CA121470	rs_137853324	2 SubmittersRCV000012206 RCV000760425
NM_001099857.5(IKBKG):c.1249T>C (p.Cys417Arg)	SNV Germline	ChrX:154564450	Pathogenic	Ectodermal dysplasia and immunodeficiency 1	No Assertion Criteria Provided	CA121473	rs_137853325	1 SubmittersRCV000012207
NM_001099857.5(IKBKG):c.1250G>T (p.Cys417Phe)	SNV Germline	ChrX:154564451	Pathogenic	Ectodermal dysplasia and immunodeficiency 1 Condition: not provided	No Assertion Criteria Provided	CA121476	rs_137853326	2 SubmittersRCV000012211 RCV000059068
NM_001099857.5(IKBKG):c.1217A>T (p.Asp406Val)	SNV Germline	ChrX:154564418	Likely pathogenic	ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1, MALE-RESTRICTED Incontinentia pigmenti syndrome Ectodermal dysplasia and immunodeficiency 1	Criteria Provided Single Submitter	CA121479	rs_137853327	2 SubmittersRCV000024285 RCV001172474 RCV004820819
NM_001099857.5(IKBKG):c.458T>G (p.Leu153Arg)	SNV Germline	ChrX:154558590	Pathogenic	Ectodermal dysplasia and immunodeficiency 1	No Assertion Criteria Provided	CA121482	rs_137853328	1 SubmittersRCV000012215
NM_001099857.5(IKBKG):c.1207C>T (p.Gln403Ter)	SNV Germline	ChrX:154564408	Pathogenic	Ectodermal dysplasia and immunodeficiency 1	No Assertion Criteria Provided	CA121485	rs_137853329	1 SubmittersRCV000012216
NM_001099857.5(IKBKG):c.768+5G>A	SNV Germline	ChrX:154561789	Pathogenic	Ectodermal dysplasia and immunodeficiency 1	No Assertion Criteria Provided	CA913184764	rs_1569556603	1 SubmittersRCV000012217
NM_001099857.5(IKBKG):c.863C>G (p.Ala288Gly)	SNV Germline	ChrX:154562904	Pathogenic	Ectodermal dysplasia and immunodeficiency 1	No Assertion Criteria Provided	CA121488	rs_137853330	1 SubmittersRCV000012221
NM_020529.3(NFKBIA):c.95G>T (p.Ser32Ile)	SNV Germline	Chr14:35404550	Pathogenic	Ectodermal dysplasia and immunodeficiency 2	No Assertion Criteria Provided	CA123691	rs_28933100	1 SubmittersRCV000015040
NM_020529.3(NFKBIA):c.32G>A (p.Trp11Ter)	SNV Germline	Chr14:35404613	Conflicting classifications of pathogenicity	Ectodermal dysplasia and immunodeficiency 2 Inherited Immunodeficiency Diseases	Criteria Provided Conflicting Classifications	CA123693	rs_121913664	3 SubmittersRCV000015041 RCV001027609
NM_020529.3(NFKBIA):c.40G>T (p.Glu14Ter)	SNV Germline	Chr14:35404605	Pathogenic	Ectodermal dysplasia and immunodeficiency 2	No Assertion Criteria Provided	CA123696	rs_121913665	1 SubmittersRCV000015042
NM_003722.5(TP63):c.797G>C (p.Arg266Pro)	SNV Germline	Chr3:189866712	Likely pathogenic	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 Condition: not provided	Criteria Provided Single Submitter	CA355754417	rs_121908849	2 SubmittersRCV000023290 RCV004719659
NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser)	SNV Germline	Chr4:39231943	Pathogenic	Cranioectodermal dysplasia 4 Senior-Loken syndrome 8 Condition: not provided Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Connective tissue disorder Renal dysplasia and retinal aplasia WDR19-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA199262	rs_387906980	10 SubmittersRCV000023681 RCV000169775 RCV001356848 RCV000987440 RCV001047050 RCV002276570 RCV003324499 RCV004532400
NM_025132.4(WDR19):c.3307C>T (p.Arg1103Ter)	SNV Germline	Chr4:39268040	Pathogenic	Cranioectodermal dysplasia 4 Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8	Criteria Provided Single Submitter	CA342746	rs_387906981	3 SubmittersRCV000023682 RCV001857362
NM_030916.3(NECTIN4):c.635C>G (p.Pro212Arg)	SNV Germline	Chr1:161077548	Pathogenic	Ectodermal dysplasia-syndactyly syndrome 1	No Assertion Criteria Provided	CA129470	rs_387907014	1 SubmittersRCV000023779
NM_001102564.3(IFT43):c.1A>G (p.Met1Val)	SNV Germline	Chr14:75985787	Pathogenic	Condition: not provided Cranioectodermal dysplasia 3	Criteria Provided Single Submitter	CA342774	rs_387907107	3 SubmittersRCV001852564 RCV000024093
NM_001399.5(EDA):c.826C>T (p.Arg276Cys)	SNV Germline	ChrX:70033430	Pathogenic/Likely pathogenic	Hypohidrotic X-linked ectodermal dysplasia Ectodermal dysplasia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA260052	rs_387907197	4 SubmittersRCV000024599 RCV000626808 RCV002262574
NM_001099857.5(IKBKG):c.1056-6=	SNV Germline	ChrX:154563953	Conflicting classifications of pathogenicity	Ectodermal dysplasia and immunodeficiency 1 not specified Condition: not provided	Criteria Provided Conflicting Classifications		rs_5945206	4 SubmittersRCV000030048 RCV001698947 RCV001811209
NM_001099857.5(IKBKG):c.399+19G>C	SNV Germline	ChrX:154556395	Conflicting classifications of pathogenicity	Ectodermal dysplasia and immunodeficiency 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA214034	rs_386134239	2 SubmittersRCV000030050 RCV001675585
NM_001099857.5(IKBKG):c.470A>C (p.Gln157Pro)	SNV Germline	ChrX:154558602	Likely pathogenic	Ectodermal dysplasia and immunodeficiency 1	Criteria Provided Single Submitter	CA214035	rs_386134240	1 SubmittersRCV000030051
NM_001099857.5(IKBKG):c.518+7C>T	SNV Germline	ChrX:154558657	Conflicting classifications of pathogenicity	Ectodermal dysplasia and immunodeficiency 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA214038	rs_386134241	2 SubmittersRCV000030052 RCV001650848
NM_017410.3(HOXC13):c.390C>A (p.Tyr130Ter)	SNV Germline	Chr12:53939296	Pathogenic	Ectodermal dysplasia 9, hair/nail type	No Assertion Criteria Provided	CA130554	rs_398122913	1 SubmittersRCV000033003
NM_001399.5(EDA):c.1094T>C (p.Val365Ala)	SNV Germline	ChrX:70035527	Pathogenic/Likely pathogenic	Hypodontia Hypohidrotic X-linked ectodermal dysplasia Inborn genetic diseases EDA-related disorder Tooth agenesis, selective, X-linked, 1 Hypohidrotic X-linked ectodermal dysplasia Tooth agenesis, selective, X-linked, 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA133741	rs_397516654	8 SubmittersRCV000037161 RCV000542700 RCV000624502 RCV004545739 RCV005049406 RCV003485530 RCV001577971
NM_001399.5(EDA):c.164T>A (p.Leu55Gln)	SNV Germline	ChrX:69616472	Likely pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Single Submitter	CA261482	rs_397516657	1 SubmittersRCV000037164
NM_001399.5(EDA):c.2T>C (p.Met1Thr)	SNV Germline	ChrX:69616310	Pathogenic	Hypohidrotic X-linked ectodermal dysplasia Condition: not provided Hypohidrotic X-linked ectodermal dysplasia Tooth agenesis, selective, X-linked, 1	Criteria Provided Multiple Submitters No Conflicts	CA261484	rs_397516659	3 SubmittersRCV000037166 RCV000255907 RCV001814027
NM_001399.5(EDA):c.329C>A (p.Ser110Ter)	SNV Germline	ChrX:69616637	Pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Single Submitter	CA261486	rs_397516660	1 SubmittersRCV000037167
NM_001399.5(EDA):c.347T>A (p.Leu116Ter)	SNV Germline	ChrX:69616655	Pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Single Submitter	CA261488	rs_397516661	1 SubmittersRCV000037168
NM_001399.5(EDA):c.457C>T (p.Arg153Cys)	SNV Germline	ChrX:69957087	Pathogenic	Condition: not provided Hypohidrotic X-linked ectodermal dysplasia Anhidrotic ectodermal dysplasia	Criteria Provided Multiple Submitters No Conflicts	CA261490	rs_397516662	10 SubmittersRCV000420111 RCV000592238 RCV003478983
NM_001399.5(EDA):c.467G>T (p.Arg156Leu)	SNV Germline	ChrX:69957097	Pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Single Submitter	CA261491	rs_132630314	1 SubmittersRCV000037172
NM_001399.5(EDA):c.491A>C (p.Glu164Ala)	SNV Germline	ChrX:69957121	Conflicting classifications of pathogenicity	not specified Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Conflicting Classifications	CA133747	rs_397516663	3 SubmittersRCV000037173 RCV000990855
NM_001399.5(EDA):c.526+5G>T	SNV Germline	ChrX:70023246	Likely pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Multiple Submitters No Conflicts	CA261493	rs_397516664	2 SubmittersRCV000037174
NM_001399.5(EDA):c.607C>T (p.Pro203Ser)	SNV Germline	ChrX:70027937	Likely pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Multiple Submitters No Conflicts	CA261501	rs_397516671	2 SubmittersRCV000037181
NM_001399.5(EDA):c.730C>T (p.Arg244Ter)	SNV Germline	ChrX:70029527	Pathogenic	Hypohidrotic X-linked ectodermal dysplasia Condition: not provided EDA-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA261503	rs_397516672	4 SubmittersRCV000037183 RCV000255016 RCV003904912
NM_001399.5(EDA):c.822G>T (p.Trp274Cys)	SNV Germline	ChrX:70033426	Likely pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Single Submitter	CA261505	rs_397516675	1 SubmittersRCV000037187
NM_001399.5(EDA):c.871G>A (p.Gly291Arg)	SNV Germline	ChrX:70033475	Pathogenic	Hypohidrotic X-linked ectodermal dysplasia Condition: not provided Anhidrotic ectodermal dysplasia	Criteria Provided Multiple Submitters No Conflicts	CA261508	rs_397516677	5 SubmittersRCV000037189 RCV000256153 RCV003398602
NM_001399.5(EDA):c.881A>T (p.Glu294Val)	SNV Germline	ChrX:70033485	Conflicting classifications of pathogenicity	not specified Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Conflicting Classifications	CA133757	rs_397516678	2 SubmittersRCV000037190 RCV002513473
NM_001399.5(EDA):c.895G>A (p.Gly299Ser)	SNV Germline	ChrX:70033499	Pathogenic/Likely pathogenic	Hypohidrotic X-linked ectodermal dysplasia Condition: not provided Hypohidrotic X-linked ectodermal dysplasia Tooth agenesis, selective, X-linked, 1	Criteria Provided Multiple Submitters No Conflicts	CA261509	rs_397516679	4 SubmittersRCV000037191 RCV001778676 RCV004795956
NM_001399.5(EDA):c.902A>G (p.Tyr301Cys)	SNV Germline	ChrX:70033506	Likely pathogenic	Hypohidrotic X-linked ectodermal dysplasia	No Assertion Criteria Provided	CA261510	rs_397516681	1 SubmittersRCV000037193
NM_001399.5(EDA):c.961G>T (p.Glu321Ter)	SNV Germline	ChrX:70035394	Likely pathogenic	Hypohidrotic X-linked ectodermal dysplasia EDA-related disorder Condition: not provided	Criteria Provided Single Submitter	CA261512	rs_397516682	3 SubmittersRCV000037194 RCV003904913 RCV004700307
NM_001110219.3(GJB6):c.15G>A (p.Thr5=)	SNV Germline	Chr13:20223466	Conflicting classifications of pathogenicity	not specified Condition: not provided Hidrotic ectodermal dysplasia syndrome Autosomal dominant nonsyndromic hearing loss 3B Autosomal recessive nonsyndromic hearing loss 1A Autosomal recessive nonsyndromic hearing loss 1B Hidrotic ectodermal dysplasia syndrome	Criteria Provided Conflicting Classifications	CA136456	rs_150075979	5 SubmittersRCV000038706 RCV000723383 RCV001112813 RCV002054714
NM_001110219.3(GJB6):c.489G>A (p.Leu163=)	SNV Germline	Chr13:20222992	Conflicting classifications of pathogenicity	not specified Condition: not provided Hidrotic ectodermal dysplasia syndrome Autosomal recessive nonsyndromic hearing loss 1A Autosomal recessive nonsyndromic hearing loss 1B Autosomal dominant nonsyndromic hearing loss 3B Hidrotic ectodermal dysplasia syndrome	Criteria Provided Conflicting Classifications	CA136461	rs_35002004	6 SubmittersRCV000038708 RCV000723451 RCV001080917 RCV001110053
NM_020779.4(WDR35):c.1889T>G (p.Leu630Ter)	SNV Germline	Chr2:19941796	Pathogenic/Likely pathogenic	Cranioectodermal dysplasia 2 WDR35-related disorder Jeune thoracic dystrophy Short-rib thoracic dysplasia 7 with or without polydactyly Cranioectodermal dysplasia 2 Cranioectodermal dysplasia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA344941	rs_199952377	12 SubmittersRCV000055830 RCV000288028 RCV000515864 RCV000648351 RCV000826131 RCV001557398
NM_020779.4(WDR35):c.1559T>C (p.Leu520Pro)	SNV Germline	Chr2:19946536	Pathogenic	Cranioectodermal dysplasia 2	No Assertion Criteria Provided	CA344943	rs_397515533	1 SubmittersRCV000055831
NM_020779.4(WDR35):c.504T>A (p.Ser168Arg)	SNV Germline	Chr2:19975596	Likely pathogenic	Short-rib thoracic dysplasia 7 with or without polydactyly Cranioectodermal dysplasia 2	Criteria Provided Single Submitter	CA344948	rs_397515536	1 SubmittersRCV001994033
NM_001099857.5(IKBKG):c.931G>A (p.Asp311Asn)	SNV Germline	ChrX:154563577	Likely pathogenic	Condition: not provided Ectodermal dysplasia and immunodeficiency 1	Criteria Provided Single Submitter	CA219237	rs_179363867	2 SubmittersRCV000059075 RCV000589891
NM_022336.4(EDAR):c.293G>A (p.Arg98Gln)	SNV Germline	Chr2:108929261	Pathogenic	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Criteria Provided Single Submitter	CA1825135	rs_144473052	1 SubmittersRCV002982504
NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu)	SNV Germline	Chr16:1571494	Conflicting classifications of pathogenicity	Saldino-Mainzer syndrome Retinal dystrophy Condition: not provided Retinitis pigmentosa 80 Retinitis pigmentosa IFT140-related disorder Cranioectodermal dysplasia 5 Retinitis pigmentosa 80 Saldino-Mainzer syndrome	Criteria Provided Conflicting Classifications	CA149748	rs_199826737	15 SubmittersRCV000626462 RCV001075445 RCV001268554 RCV001542691 RCV002509205 RCV003398688 RCV005259988 RCV005016364
NM_025132.4(WDR19):c.3703G>A (p.Glu1235Lys)	SNV Germline	Chr4:39274945	Pathogenic/Likely pathogenic	Nephronophthisis 13 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Condition: not provided Cranioectodermal dysplasia 4 Spermatogenic failure 72 Asphyxiating thoracic dystrophy 5 Nephronophthisis 13 Senior-Loken syndrome 8	Criteria Provided Multiple Submitters No Conflicts	CA151410	rs_587777351	7 SubmittersRCV000115013 RCV001281118 RCV001854544 RCV000788500 RCV002477273
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln)	SNV Germline	Chr4:39273029	Pathogenic/Likely pathogenic	Senior-Loken syndrome 8 Condition: not provided Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Nephronophthisis 13 Senior-Loken syndrome 8 Cranioectodermal dysplasia 4 Nephronophthisis 13 Leber congenital amaurosis WDR19-related disorder Cranioectodermal dysplasia 4 Asphyxiating thoracic dystrophy 5 Nephronophthisis 13 Senior-Loken syndrome 8 Cranioectodermal dysplasia Cranioectodermal dysplasia 4 Spermatogenic failure 72 Asphyxiating thoracic dystrophy 5 Nephronophthisis 13 Senior-Loken syndrome 8	Criteria Provided Multiple Submitters No Conflicts	CA151412	rs_79436363	11 SubmittersRCV000115014 RCV000433622 RCV000653250 RCV000850617 RCV003224150 RCV003224149 RCV001262101 RCV005250018 RCV005359057 RCV000754960 RCV005031600
NM_001399.5(EDA):c.396+2T>G	SNV Germline	ChrX:69616706	Pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Single Submitter	CA273616	rs_727504814	1 SubmittersRCV000156149
NM_001399.5(EDA):c.502+1G>A	SNV Germline	ChrX:69957133	Pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Single Submitter	CA273640	rs_727505013	1 SubmittersRCV000156436
NM_001399.5(EDA):c.766C>T (p.Gln256Ter)	SNV Germline	ChrX:70030493	Pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Multiple Submitters No Conflicts	CA273531	rs_727504417	2 SubmittersRCV000686194
NM_001399.5(EDA):c.991C>T (p.Gln331Ter)	SNV Germline	ChrX:70035424	Pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Multiple Submitters No Conflicts	CA273147	rs_727503011	2 SubmittersRCV000150607
NM_001399.5(EDA):c.396+1G>A	SNV Germline	ChrX:69616705	Pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Single Submitter	CA273568	rs_727504537	1 SubmittersRCV000155689
NM_001399.5(EDA):c.474A>C (p.Lys158Asn)	SNV Germline	ChrX:69957104	Pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Single Submitter	CA273588	rs_727504649	1 SubmittersRCV000155912
NM_001399.5(EDA):c.676C>T (p.Gln226Ter)	SNV Germline	ChrX:70028006	Pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Multiple Submitters No Conflicts	CA273141	rs_727503007	2 SubmittersRCV000150598
NM_001399.5(EDA):c.794A>G (p.Asp265Gly)	SNV Germline	ChrX:70033398	Conflicting classifications of pathogenicity	not specified Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Conflicting Classifications	CA184075	rs_727504750	4 SubmittersRCV000156051 RCV000796602
NM_001399.5(EDA):c.822G>A (p.Trp274Ter)	SNV Germline	ChrX:70033426	Pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Single Submitter	CA273144	rs_397516675	1 SubmittersRCV000150600
NM_025132.4(WDR19):c.2792A>C (p.Tyr931Ser)	SNV Germline	Chr4:39253208	Conflicting classifications of pathogenicity	not specified Asphyxiating thoracic dystrophy 5 Cranioectodermal dysplasia 4 Condition: not provided Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Inborn genetic diseases WDR19-related disorder Connective tissue disorder	Criteria Provided Conflicting Classifications	CA235263	rs_187546086	11 SubmittersRCV000154140 RCV000278329 RCV000317115 RCV000723861 RCV001083264 RCV002516102 RCV004532742 RCV002277304
NM_001006657.2(WDR35):c.1215A>G (p.Thr405=)	SNV Germline	Chr2:19962307	Conflicting classifications of pathogenicity	Condition: not provided Short-rib thoracic dysplasia 7 with or without polydactyly Cranioectodermal dysplasia 2 Cranioectodermal dysplasia 2 Short-rib thoracic dysplasia 7 with or without polydactyly Connective tissue disorder	Criteria Provided Conflicting Classifications	CA235267	rs_144673252	4 SubmittersRCV000154144 RCV000266638 RCV000324065 RCV001087229 RCV002277305
NM_052989.3(IFT122):c.1715G>T (p.Gly572Val)	SNV Germline	Chr3:129483546	Likely pathogenic	Condition: not provided Cranioectodermal dysplasia 1	Criteria Provided Single Submitter	CA236202	rs_786205566	1 SubmittersRCV000171370 RCV003989481
NM_052989.3(IFT122):c.2375+2T>C	SNV Germline	Chr3:129500070	Pathogenic	Condition: not provided Cranioectodermal dysplasia Cranioectodermal dysplasia 1	Criteria Provided Single Submitter	CA236204	rs_786205567	1 SubmittersRCV000171371 RCV000256473 RCV004527368
NM_025132.4(WDR19):c.2777G>T (p.Ser926Ile)	SNV Germline	Chr4:39253193	Conflicting classifications of pathogenicity	Condition: not provided Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Retinal dystrophy Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Nephronophthisis 13 Cranioectodermal dysplasia 4 Spermatogenic failure 72 Nephronophthisis 13	Criteria Provided Conflicting Classifications	CA236213	rs_751386429	5 SubmittersRCV000171376 RCV002515238 RCV004815270 RCV005031700 RCV003989482
NM_022336.4(EDAR):c.1144G>A (p.Gly382Ser)	SNV Germline	Chr2:108897110	Pathogenic	Condition: not provided Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA274979	rs_747806672	4 SubmittersRCV000255133 RCV001384049 RCV005208127
NM_052989.3(IFT122):c.1992+7A>G	SNV Germline	Chr3:129488404	Conflicting classifications of pathogenicity	Condition: not provided Cranioectodermal dysplasia 1	Criteria Provided Conflicting Classifications	CA240965	rs_757823317	2 SubmittersRCV000175241 RCV002056933
NM_052989.3(IFT122):c.2749T>G (p.Tyr917Asp)	SNV Germline	Chr3:129506507	Conflicting classifications of pathogenicity	not specified Condition: not provided Cranioectodermal dysplasia 1	Criteria Provided Conflicting Classifications	CA209252	rs_146818399	4 SubmittersRCV000194823 RCV000724440 RCV001086963
NM_052989.3(IFT122):c.2721G>A (p.Ala907=)	SNV Germline	Chr3:129506479	Conflicting classifications of pathogenicity	Condition: not provided Cranioectodermal dysplasia 1	Criteria Provided Conflicting Classifications	CA242370	rs_371570973	3 SubmittersRCV000176430 RCV000328099
NM_020779.4(WDR35):c.2777A>G (p.Tyr926Cys)	SNV Germline	Chr2:19932329	Conflicting classifications of pathogenicity	Condition: not provided Cranioectodermal dysplasia 2 Cranioectodermal dysplasia 2 Short-rib thoracic dysplasia 7 with or without polydactyly Short-rib thoracic dysplasia 7 with or without polydactyly WDR35-related disorder	Criteria Provided Conflicting Classifications	CA242420	rs_75602337	5 SubmittersRCV000176461 RCV000363678 RCV001078877 RCV000266710 RCV004539638
NM_052989.3(IFT122):c.3129C>T (p.Arg1043=)	SNV Germline	Chr3:129514530	Conflicting classifications of pathogenicity	not specified Cranioectodermal dysplasia 1 Connective tissue disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA206264	rs_76881473	7 SubmittersRCV000193036 RCV000878287 RCV002277380 RCV001555254
NM_001110219.3(GJB6):c.177A>G (p.Gly59=)	SNV Germline	Chr13:20223304	Conflicting classifications of pathogenicity	Condition: not provided Hidrotic ectodermal dysplasia syndrome Autosomal dominant nonsyndromic hearing loss 3B Autosomal recessive nonsyndromic hearing loss 1A Autosomal recessive nonsyndromic hearing loss 1B Hidrotic ectodermal dysplasia syndrome GJB6-related disorder	Criteria Provided Conflicting Classifications	CA243400	rs_371123633	5 SubmittersRCV000177262 RCV000355903 RCV001087329 RCV004537425
NM_003722.5(TP63):c.740A>G (p.His247Arg)	SNV Germline	Chr3:189864392	Pathogenic	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 Condition: not provided Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome TP63-Related Spectrum Disorders	Criteria Provided Multiple Submitters No Conflicts	CA339766	rs_864621968	4 SubmittersRCV000206266 RCV000312203 RCV005208129 RCV000821003
NM_003722.5(TP63):c.1037C>G (p.Ala346Gly)	SNV Germline	Chr3:189868624	Pathogenic	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3	Criteria Provided Single Submitter	CA204448	rs_797044484	1 SubmittersRCV000190455
NM_020779.4(WDR35):c.2066G>A (p.Arg689His)	SNV Germline	Chr2:19937944	Conflicting classifications of pathogenicity	not specified Short-rib thoracic dysplasia 7 with or without polydactyly Cranioectodermal dysplasia 2 Short-rib thoracic dysplasia 7 with or without polydactyly Cranioectodermal dysplasia 2 Condition: not provided WDR35-related disorder	Criteria Provided Conflicting Classifications	CA207959	rs_74470618	7 SubmittersRCV000194057 RCV000648352 RCV001143632 RCV001143633 RCV001582689 RCV004530150
NM_020779.4(WDR35):c.1435A>G (p.Met479Val)	SNV Germline	Chr2:19951450	Conflicting classifications of pathogenicity	not specified Condition: not provided Short-rib thoracic dysplasia 7 with or without polydactyly Cranioectodermal dysplasia 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA206270	rs_797046099	7 SubmittersRCV000193041 RCV000724941 RCV001853122 RCV005520250
NM_001110219.3(GJB6):c.301G>A (p.Glu101Lys)	SNV Germline	Chr13:20223180	Conflicting classifications of pathogenicity	Autosomal recessive nonsyndromic hearing loss 1B Autosomal dominant nonsyndromic hearing loss 3B Autosomal recessive nonsyndromic hearing loss 1B X-linked mixed hearing loss with perilymphatic gusher Hidrotic ectodermal dysplasia syndrome Autosomal dominant nonsyndromic hearing loss 3B Autosomal recessive nonsyndromic hearing loss 1A not specified	Criteria Provided Conflicting Classifications	CA6904473	rs_571454176	3 SubmittersRCV000490500 RCV002478761 RCV003330585
NM_001399.5(EDA):c.477A>T (p.Arg159Ser)	SNV Germline	ChrX:69957107	Likely pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Single Submitter	CA10577172	rs_876657640	1 SubmittersRCV000218495
NM_001399.5(EDA):c.866G>A (p.Arg289His)	SNV Germline	ChrX:70033470	Pathogenic/Likely pathogenic	Hypodontia Hypohidrotic X-linked ectodermal dysplasia Anhidrotic ectodermal dysplasia Tooth agenesis, selective, X-linked, 1 Hypohidrotic X-linked ectodermal dysplasia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10577177	rs_876657641	5 SubmittersRCV000223248 RCV001054886 RCV003317157 RCV001248822 RCV003886387
NM_001399.5(EDA):c.911A>C (p.Tyr304Ser)	SNV Germline	ChrX:70033515	Likely pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Single Submitter	CA10577178	rs_876657642	1 SubmittersRCV000214953
NM_001399.5(EDA):c.960T>G (p.Tyr320Ter)	SNV Germline	ChrX:70035393	Pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Single Submitter	CA10577179	rs_876657687	1 SubmittersRCV000222108
NM_001399.5(EDA):c.1067C>T (p.Ala356Val)	SNV Germline	ChrX:70035500	Pathogenic/Likely pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Multiple Submitters No Conflicts	CA10577181	rs_876657639	2 SubmittersRCV000809933
NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn)	SNV Germline	Chr21:44499878	Conflicting classifications of pathogenicity	not specified Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis Condition: not provided Inborn genetic diseases Autosomal recessive nonsyndromic hearing loss 98 Tooth agenesis, selective, 10 TSPEAR-related disorder	Criteria Provided Conflicting Classifications	CA10056257	rs_138480801	16 SubmittersRCV000218316 RCV000721121 RCV000844249 RCV001267478 RCV001335431 RCV002470820 RCV003977608
NM_025132.4(WDR19):c.3918-6A>C	SNV Germline	Chr4:39278533	Conflicting classifications of pathogenicity	not specified Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Cranioectodermal dysplasia 4 Asphyxiating thoracic dystrophy 5	Criteria Provided Conflicting Classifications	CA2892539	rs_199546190	3 SubmittersRCV000239256 RCV000877878 RCV001144715 RCV001150826
NM_001399.5(EDA):c.865C>T (p.Arg289Cys)	SNV Germline	ChrX:70033469	Pathogenic	Tooth agenesis, selective, X-linked, 1 Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Multiple Submitters No Conflicts	CA10586173	rs_879255551	3 SubmittersRCV000239506 RCV000692210
NM_001399.5(EDA):c.755A>T (p.His252Leu)	SNV Germline	ChrX:70030482	Pathogenic	Hypohidrotic X-linked ectodermal dysplasia	No Assertion Criteria Provided	CA10586174	rs_879255552	1 SubmittersRCV000239466
NM_145861.4(EDARADD):c.367G>A (p.Asp123Asn)	SNV Germline	Chr1:236482368	Likely pathogenic	ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive	Criteria Provided Single Submitter	CA10586192	rs_879255629	2 SubmittersRCV000239549 RCV003765486
NM_145861.4(EDARADD):c.120+1G>A	SNV Germline	Chr1:236409275	Pathogenic	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive	No Assertion Criteria Provided	CA10586193	rs_879255553	1 SubmittersRCV000239464
NM_145861.4(EDARADD):c.161-13T>C	SNV Germline	Chr1:236427379	Conflicting classifications of pathogenicity	not specified Hypohidrotic Ectodermal Dysplasia, Recessive Hypohidrotic ectodermal dysplasia Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive	Criteria Provided Conflicting Classifications	CA1470011	rs_184596437	3 SubmittersRCV000244576 RCV000293938 RCV001100444 RCV002518659
NM_022336.4(EDAR):c.1138A>C (p.Ser380Arg)	SNV Germline	Chr2:108897116	Conflicting classifications of pathogenicity	not specified Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Non-syndromic oligodontia Hypohidrotic ectodermal dysplasia Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	Criteria Provided Conflicting Classifications	CA1824811	rs_146567337	5 SubmittersRCV000243038 RCV000864277 RCV001261888 RCV001133944 RCV005361494
NM_022336.4(EDAR):c.319A>G (p.Met107Val)	SNV Germline	Chr2:108929235	Conflicting classifications of pathogenicity	not specified Hypohidrotic Ectodermal Dysplasia, Dominant Hypohidrotic ectodermal dysplasia Non-syndromic oligodontia Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Criteria Provided Conflicting Classifications	CA1825128	rs_61761321	6 SubmittersRCV000247995 RCV000336113 RCV001134059 RCV001261885 RCV005361495 RCV002519938
NM_052989.3(IFT122):c.1026C>T (p.Asp342=)	SNV Germline	Chr3:129476680	Conflicting classifications of pathogenicity	not specified Condition: not provided Cranioectodermal dysplasia 1	Criteria Provided Conflicting Classifications	CA2606058	rs_79187669	5 SubmittersRCV000251326 RCV000725440 RCV001086371
NM_025132.4(WDR19):c.1198C>T (p.Leu400=)	SNV Germline	Chr4:39216159	Conflicting classifications of pathogenicity	not specified Cranioectodermal dysplasia 4 Asphyxiating thoracic dystrophy 5 Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Condition: not provided	Criteria Provided Conflicting Classifications	CA2891795	rs_199765304	4 SubmittersRCV000246087 RCV000338763 RCV000302521 RCV000952547 RCV001753728
NM_022336.4(EDAR):c.1121G>A (p.Trp374Ter)	SNV Germline	Chr2:108897133	Pathogenic/Likely pathogenic	Condition: not provided Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10588306	rs_886039348	2 SubmittersRCV000256050 RCV001068701
NM_022336.4(EDAR):c.1073G>A (p.Arg358Gln)	SNV Germline	Chr2:108897181	Pathogenic	Condition: not provided Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	Criteria Provided Multiple Submitters No Conflicts	CA10588307	rs_886039564	3 SubmittersRCV000254918 RCV001389818 RCV001808722
NM_022336.4(EDAR):c.463G>A (p.Ala155Thr)	SNV Germline	Chr2:108912744	Conflicting classifications of pathogenicity	Condition: not provided Hypohidrotic ectodermal dysplasia Inborn genetic diseases Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Criteria Provided Conflicting Classifications	CA1825062	rs_370972367	4 SubmittersRCV000255100 RCV001131113 RCV004021023 RCV002059056
NM_001399.5(EDA):c.706+1G>A	SNV Germline	ChrX:70028037	Pathogenic/Likely pathogenic	Condition: not provided Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Multiple Submitters No Conflicts	CA10588796	rs_886039344	3 SubmittersRCV000256169 RCV000525670
NM_001399.5(EDA):c.1069C>T (p.Arg357Trp)	SNV Germline	ChrX:70035502	Pathogenic/Likely pathogenic	Condition: not provided Hypohidrotic X-linked ectodermal dysplasia EDA-related disorder See cases	Criteria Provided Multiple Submitters No Conflicts	CA10588798	rs_886039347	6 SubmittersRCV000255432 RCV000532383 RCV004730918 RCV004584376
NM_025132.4(WDR19):c.1434C>G (p.Ile478Met)	SNV Germline	Chr4:39218060	Pathogenic/Likely pathogenic	Cranioectodermal dysplasia Senior-Loken syndrome 8	No Assertion Criteria Provided	CA10588960	rs_886039814	2 SubmittersRCV000256446 RCV000985142
NM_022336.4(EDAR):c.1284T>A (p.Cys428Ter)	SNV Unknown	Chr2:108896970	Likely pathogenic	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	No Assertion Criteria Provided	CA10602612	rs_886041005	1 SubmittersRCV000258329
NM_145861.4(EDARADD):c.196C>T (p.Arg66Ter)	SNV Germline	Chr1:236427427	Pathogenic	Condition: not provided Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA1470017	rs_766500689	2 SubmittersRCV000323922 RCV003338495
NM_003722.5(TP63):c.1027C>T (p.Arg343Trp)	SNV Germline	Chr3:189868614	Pathogenic	Condition: not provided TP63-Related Spectrum Disorders Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3	Criteria Provided Multiple Submitters No Conflicts	CA10602901	rs_886041251	6 SubmittersRCV000371222 RCV001050126 RCV003152702
NM_025132.4(WDR19):c.2363+1G>A	SNV Germline	Chr4:39234876	Pathogenic/Likely pathogenic	Condition: not provided Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Senior-Loken syndrome 8 Spermatogenic failure 72 Asphyxiating thoracic dystrophy 5 Nephronophthisis 13 Cranioectodermal dysplasia 4	Criteria Provided Multiple Submitters No Conflicts	CA10602914	rs_886041912	4 SubmittersRCV000320568 RCV001234299 RCV005235249 RCV002494812
NM_020529.3(NFKBIA):c.25C>T (p.Gln9Ter)	SNV Germline	Chr14:35404620	Pathogenic	Condition: not provided Ectodermal dysplasia and immunodeficiency 2	Criteria Provided Multiple Submitters No Conflicts	CA10603205	rs_886041411	2 SubmittersRCV000325290 RCV005090329
NM_001399.5(EDA):c.872G>A (p.Gly291Glu)	SNV Germline	ChrX:70033476	Pathogenic	Condition: not provided Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Multiple Submitters No Conflicts	CA10603736	rs_886042021	2 SubmittersRCV000378927 RCV001347864
NM_020779.4(WDR35):c.355C>T (p.Arg119Cys)	SNV Germline	Chr2:19978832	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia 2 Short-rib thoracic dysplasia 7 with or without polydactyly not specified Condition: not provided Short-rib thoracic dysplasia 7 with or without polydactyly Cranioectodermal dysplasia 2 WDR35-related disorder	Criteria Provided Conflicting Classifications	CA1543553	rs_140308808	7 SubmittersRCV000280618 RCV000375021 RCV000356360 RCV000767100 RCV001085930 RCV004535250
NM_052989.3(IFT122):c.229G>A (p.Val77Ile)	SNV Germline	Chr3:129458634	Conflicting classifications of pathogenicity	Condition: not provided Cranioectodermal dysplasia 1	Criteria Provided Conflicting Classifications	CA2605752	rs_369525803	3 SubmittersRCV000400100 RCV002480008
NM_052989.3(IFT122):c.978G>A (p.Thr326=)	SNV Germline	Chr3:129476476	Conflicting classifications of pathogenicity	Condition: not provided Cranioectodermal dysplasia 1	Criteria Provided Conflicting Classifications	CA2606034	rs_781409395	2 SubmittersRCV000303023 RCV002059123
NM_052989.3(IFT122):c.617T>C (p.Ile206Thr)	SNV Germline	Chr3:129466943	Conflicting classifications of pathogenicity	not specified Cranioectodermal dysplasia 1 Inborn genetic diseases IFT122-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA2605932	rs_59912693	7 SubmittersRCV000399070 RCV000945510 RCV003278735 RCV003939973 RCV001582907
NM_020779.4(WDR35):c.1227A>G (p.Thr409=)	SNV Germline	Chr2:19960582	Conflicting classifications of pathogenicity	Condition: not provided Short-rib thoracic dysplasia 7 with or without polydactyly Cranioectodermal dysplasia 2 WDR35-related disorder	Criteria Provided Conflicting Classifications	CA1543294	rs_148828104	4 SubmittersRCV000317233 RCV002059130 RCV004535301
NM_052989.3(IFT122):c.3487T>A (p.Phe1163Ile)	SNV Germline	Chr3:129519583	Conflicting classifications of pathogenicity	Condition: not provided Connective tissue disorder Inborn genetic diseases Cranioectodermal dysplasia 1	Criteria Provided Conflicting Classifications	CA2606945	rs_200606803	9 SubmittersRCV000294633 RCV002278283 RCV003278736 RCV000794465
NM_022336.4(EDAR):c.224C>T (p.Pro75Leu)	SNV Germline	Chr2:108929330	Conflicting classifications of pathogenicity	Condition: not provided Hypohidrotic ectodermal dysplasia Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	Criteria Provided Conflicting Classifications	CA1825147	rs_748806220	3 SubmittersRCV000263826 RCV001134061 RCV003765629
NM_001110219.3(GJB6):c.672A>G (p.Arg224=)	SNV Germline	Chr13:20222809	Conflicting classifications of pathogenicity	Condition: not provided Hidrotic ectodermal dysplasia syndrome Autosomal recessive nonsyndromic hearing loss 1B Hidrotic ectodermal dysplasia syndrome Autosomal dominant nonsyndromic hearing loss 3B Autosomal recessive nonsyndromic hearing loss 1A	Criteria Provided Conflicting Classifications	CA6904399	rs_756597598	3 SubmittersRCV000270365 RCV001114091 RCV002059176
NM_020779.4(WDR35):c.1255+1G>A	SNV Germline	Chr2:19960553	Pathogenic/Likely pathogenic	Condition: not provided Short-rib thoracic dysplasia 7 with or without polydactyly Cranioectodermal dysplasia 2	Criteria Provided Multiple Submitters No Conflicts	CA1543286	rs_371669862	3 SubmittersRCV000301418 RCV000797932
NM_025132.4(WDR19):c.2361C>T (p.Phe787=)	SNV Germline	Chr4:39234873	Conflicting classifications of pathogenicity	not specified Cranioectodermal dysplasia 4 Asphyxiating thoracic dystrophy 5 Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Condition: not provided Connective tissue disorder	Criteria Provided Conflicting Classifications	CA2892056	rs_200133722	8 SubmittersRCV000286180 RCV000365966 RCV000399917 RCV001085843 RCV001701934 RCV002278307
NM_020779.4(WDR35):c.2109T>G (p.Thr703=)	SNV Germline	Chr2:19937901	Conflicting classifications of pathogenicity	Condition: not provided Cranioectodermal dysplasia 2 Short-rib thoracic dysplasia 7 with or without polydactyly WDR35-related disorder	Criteria Provided Conflicting Classifications	CA1543035	rs_201822027	3 SubmittersRCV000297454 RCV001479098 RCV004535394
NM_020779.4(WDR35):c.3252G>A (p.Glu1084=)	SNV Germline	Chr2:19914147	Conflicting classifications of pathogenicity	Condition: not provided Cranioectodermal dysplasia 2 Short-rib thoracic dysplasia 7 with or without polydactyly WDR35-related disorder	Criteria Provided Conflicting Classifications	CA1542711	rs_182360785	4 SubmittersRCV000352423 RCV001088237 RCV004535395
NM_052989.3(IFT122):c.669C>T (p.Tyr223=)	SNV Germline	Chr3:129466995	Conflicting classifications of pathogenicity	Condition: not provided Cranioectodermal dysplasia 1	Criteria Provided Conflicting Classifications	CA2605945	rs_139008392	2 SubmittersRCV000393842 RCV003611508
NM_001006657.2(WDR35):c.1203C>T (p.Asn401=)	SNV Germline	Chr2:19962319	Conflicting classifications of pathogenicity	Condition: not provided Cranioectodermal dysplasia 2 Short-rib thoracic dysplasia 7 with or without polydactyly	Criteria Provided Conflicting Classifications	CA1543311	rs_142103808	2 SubmittersRCV000318761 RCV001089185
NM_020779.4(WDR35):c.1183A>T (p.Asn395Tyr)	SNV Germline	Chr2:19966735	Conflicting classifications of pathogenicity	Short-rib thoracic dysplasia 6 with or without polydactyly Short-rib thoracic dysplasia 7 with or without polydactyly Cranioectodermal dysplasia 2 Connective tissue disorder Condition: not provided not specified WDR35-related disorder Cranioectodermal dysplasia 2 Short-rib thoracic dysplasia 7 with or without polydactyly	Criteria Provided Conflicting Classifications	CA1543330	rs_143343508	11 SubmittersRCV000515966 RCV001086026 RCV002278315 RCV000395590 RCV004782345 RCV004732829 RCV001143732 RCV001143733
NM_020779.4(WDR35):c.3467T>G (p.Ile1156Arg)	SNV Germline	Chr2:19913604	Conflicting classifications of pathogenicity	Condition: not provided Cranioectodermal dysplasia 2 Short-rib thoracic dysplasia 7 with or without polydactyly WDR35-related disorder	Criteria Provided Conflicting Classifications	CA1542655	rs_147325795	4 SubmittersRCV000377253 RCV001086217 RCV004535416
NM_052989.3(IFT122):c.41+15G>T	SNV Germline	Chr3:129440386	Conflicting classifications of pathogenicity	Condition: not provided Cranioectodermal dysplasia 1	Criteria Provided Conflicting Classifications	CA2605658	rs_36222038	3 SubmittersRCV000339201 RCV001148006
NM_145861.4(EDARADD):c.*417G>A	SNV Germline	Chr1:236483066	Conflicting classifications of pathogenicity	Hypohidrotic Ectodermal Dysplasia, Recessive Hypohidrotic ectodermal dysplasia	Criteria Provided Conflicting Classifications	CA10609418	rs_189781826	1 SubmittersRCV000356260 RCV001097004
NM_145861.4(EDARADD):c.115A>G (p.Asn39Asp)	SNV Germline	Chr1:236409269	Conflicting classifications of pathogenicity	Hypohidrotic Ectodermal Dysplasia, Recessive Hypohidrotic ectodermal dysplasia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1469956	rs_759461234	2 SubmittersRCV000385891 RCV001100441 RCV002520476
NM_145861.4(EDARADD):c.*285G>A	SNV Germline	Chr1:236482934	Conflicting classifications of pathogenicity	Hypohidrotic Ectodermal Dysplasia, Recessive Hypohidrotic ectodermal dysplasia	Criteria Provided Conflicting Classifications	CA10609574	rs_142266831	1 SubmittersRCV000361021 RCV001097002
NM_145861.4(EDARADD):c.*967A>G	SNV Germline	Chr1:236483616	Conflicting classifications of pathogenicity	Hypohidrotic Ectodermal Dysplasia, Recessive Hypohidrotic ectodermal dysplasia	Criteria Provided Conflicting Classifications	CA10610446	rs_193138062	1 SubmittersRCV000384811 RCV001100553
NM_145861.4(EDARADD):c.*1438C>T	SNV Germline	Chr1:236484087	Conflicting classifications of pathogenicity	Hypohidrotic Ectodermal Dysplasia, Recessive Hypohidrotic ectodermal dysplasia	Criteria Provided Conflicting Classifications	CA10610456	rs_201710490	1 SubmittersRCV000379160 RCV001102501
NM_145861.4(EDARADD):c.600C>T (p.Asp200=)	SNV Germline	Chr1:236482601	Conflicting classifications of pathogenicity	Hypohidrotic Ectodermal Dysplasia, Recessive Condition: not provided Hypohidrotic ectodermal dysplasia	Criteria Provided Conflicting Classifications	CA1470101	rs_74942492	2 SubmittersRCV000398173 RCV000953992 RCV001102403
NM_145861.4(EDARADD):c.*1887G>A	SNV Germline	Chr1:236484536	Conflicting classifications of pathogenicity	Hypohidrotic Ectodermal Dysplasia, Recessive Hypohidrotic ectodermal dysplasia	Criteria Provided Conflicting Classifications	CA10610579	rs_114783553	1 SubmittersRCV000272688 RCV001098849
NM_022336.4(EDAR):c.-189T>C	SNV Germline	Chr2:108989130	Conflicting classifications of pathogenicity	Hypohidrotic Ectodermal Dysplasia, Dominant Hypohidrotic ectodermal dysplasia	Criteria Provided Conflicting Classifications	CA10610967	rs_569682476	1 SubmittersRCV000269998 RCV001135571
NM_022336.4(EDAR):c.844C>T (p.Arg282Trp)	SNV Germline	Chr2:108907979	Conflicting classifications of pathogenicity	Hypohidrotic Ectodermal Dysplasia, Dominant Hypohidrotic ectodermal dysplasia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1824905	rs_781652310	2 SubmittersRCV000329517 RCV001135452 RCV005328245
NM_022336.4(EDAR):c.146C>T (p.Pro49Leu)	SNV Germline	Chr2:108930148	Conflicting classifications of pathogenicity	Hypohidrotic Ectodermal Dysplasia, Dominant Inborn genetic diseases Hypohidrotic ectodermal dysplasia Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Criteria Provided Conflicting Classifications	CA1825198	rs_375891208	3 SubmittersRCV000301138 RCV003168496 RCV001134066 RCV002229874
NM_022336.4(EDAR):c.68C>T (p.Ser23Leu)	SNV Germline	Chr2:108930226	Conflicting classifications of pathogenicity	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Inborn genetic diseases EDAR-related disorder Hypohidrotic Ectodermal Dysplasia, Dominant Hypohidrotic ectodermal dysplasia	Criteria Provided Conflicting Classifications	CA1825221	rs_760731007	4 SubmittersRCV002229875 RCV002521263 RCV003950136 RCV000337432 RCV001135565
NM_020779.4(WDR35):c.2220C>T (p.Phe740=)	SNV Germline	Chr2:19937790	Conflicting classifications of pathogenicity	Short-rib thoracic dysplasia 7 with or without polydactyly Cranioectodermal dysplasia 2 Short-rib thoracic dysplasia 7 with or without polydactyly Cranioectodermal dysplasia 2	Criteria Provided Conflicting Classifications	CA1543017	rs_535522970	2 SubmittersRCV000262901 RCV000355426 RCV002521355
NM_020779.4(WDR35):c.1591C>G (p.Leu531Val)	SNV Germline	Chr2:19946504	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia 2 Short-rib thoracic dysplasia 7 with or without polydactyly Short-rib thoracic dysplasia 7 with or without polydactyly Cranioectodermal dysplasia 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA1543169	rs_148242353	4 SubmittersRCV000273395 RCV000312074 RCV000878115 RCV001574327
NM_020779.4(WDR35):c.1029T>C (p.Thr343=)	SNV Germline	Chr2:19966889	Conflicting classifications of pathogenicity	Short-rib thoracic dysplasia 7 with or without polydactyly Cranioectodermal dysplasia 2 Short-rib thoracic dysplasia 7 with or without polydactyly Cranioectodermal dysplasia 2	Criteria Provided Conflicting Classifications	CA1543360	rs_536150588	2 SubmittersRCV000292694 RCV000407907 RCV002057634
NM_020779.4(WDR35):c.215-4C>G	SNV Germline	Chr2:19980787	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia 2 Short-rib thoracic dysplasia 7 with or without polydactyly Short-rib thoracic dysplasia 7 with or without polydactyly Cranioectodermal dysplasia 2	Criteria Provided Conflicting Classifications	CA1543591	rs_369080910	3 SubmittersRCV000295469 RCV000345746 RCV002521359
NM_020779.4(WDR35):c.3279G>C (p.Gln1093His)	SNV Germline	Chr2:19914120	Conflicting classifications of pathogenicity	Short-rib thoracic dysplasia 7 with or without polydactyly Cranioectodermal dysplasia 2 Short-rib thoracic dysplasia 7 with or without polydactyly Cranioectodermal dysplasia 2 Condition: not provided WDR35-related disorder Connective tissue disorder	Criteria Provided Conflicting Classifications	CA1542706	rs_148436608	5 SubmittersRCV000311978 RCV000405190 RCV000945632 RCV001660692 RCV004530345 RCV002278514
NM_020779.4(WDR35):c.2678T>C (p.Leu893Ser)	SNV Germline	Chr2:19932428	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia 2 Short-rib thoracic dysplasia 7 with or without polydactyly Condition: not provided Short-rib thoracic dysplasia 7 with or without polydactyly Cranioectodermal dysplasia 2 WDR35-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1542859	rs_151047156	6 SubmittersRCV000324159 RCV000358005 RCV000733656 RCV001480464 RCV004544616 RCV004965417
NM_020779.4(WDR35):c.3026C>G (p.Thr1009Arg)	SNV Germline	Chr2:19930491	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia 2 Short-rib thoracic dysplasia 7 with or without polydactyly Short-rib thoracic dysplasia 7 with or without polydactyly Cranioectodermal dysplasia 2 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA1542761	rs_201153804	6 SubmittersRCV000283688 RCV000380540 RCV001058852 RCV001731614 RCV004782362
NM_020779.4(WDR35):c.2965-4G>T	SNV Germline	Chr2:19930556	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia 2 Short-rib thoracic dysplasia 7 with or without polydactyly Short-rib thoracic dysplasia 7 with or without polydactyly Cranioectodermal dysplasia 2	Criteria Provided Conflicting Classifications	CA1542772	rs_199696980	2 SubmittersRCV000282531 RCV000334458 RCV002057631
NM_020779.4(WDR35):c.2268-11T>G	SNV Germline	Chr2:19936376	Conflicting classifications of pathogenicity	Short-rib thoracic dysplasia 7 with or without polydactyly Cranioectodermal dysplasia 2 Short-rib thoracic dysplasia 7 with or without polydactyly Cranioectodermal dysplasia 2	Criteria Provided Conflicting Classifications	CA10613448	rs_745664606	2 SubmittersRCV000304088 RCV000342664 RCV002057632
NM_020779.4(WDR35):c.798C>T (p.Ser266=)	SNV Germline	Chr2:19973647	Conflicting classifications of pathogenicity	Short-rib thoracic dysplasia 7 with or without polydactyly Cranioectodermal dysplasia 2 Condition: not provided Short-rib thoracic dysplasia 7 with or without polydactyly Cranioectodermal dysplasia 2 WDR35-related disorder	Criteria Provided Conflicting Classifications	CA1543430	rs_141118263	4 SubmittersRCV000307756 RCV000362407 RCV001546601 RCV001490944 RCV004530347
NM_020779.4(WDR35):c.1053T>C (p.Pro351=)	SNV Germline	Chr2:19966865	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia 2 Short-rib thoracic dysplasia 7 with or without polydactyly Short-rib thoracic dysplasia 7 with or without polydactyly Cranioectodermal dysplasia 2 WDR35-related disorder	Criteria Provided Conflicting Classifications	CA1543355	rs_74385826	3 SubmittersRCV000282180 RCV000337183 RCV002057633 RCV004544617
NM_052989.3(IFT122):c.132C>G (p.Thr44=)	SNV Germline	Chr3:129451937	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia 1	Criteria Provided Conflicting Classifications	CA10614836	rs_371772807	2 SubmittersRCV000282096
NM_052989.3(IFT122):c.1553G>A (p.Arg518His)	SNV Germline	Chr3:129481594	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia 1 not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2606218	rs_138223055	4 SubmittersRCV000294078 RCV002298575 RCV002520080
NM_052989.3(IFT122):c.1758C>G (p.His586Gln)	SNV Germline	Chr3:129483589	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia 1	Criteria Provided Conflicting Classifications	CA2606281	rs_141889207	3 SubmittersRCV000288140
NM_052989.3(IFT122):c.214T>G (p.Ser72Ala)	SNV Germline	Chr3:129458619	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia 1	Criteria Provided Conflicting Classifications	CA2605748	rs_144140226	2 SubmittersRCV000399027
NM_052989.3(IFT122):c.321A>G (p.Gln107=)	SNV Germline	Chr3:129461276	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia not specified Condition: not provided Cranioectodermal dysplasia 1 Connective tissue disorder	Criteria Provided Conflicting Classifications	CA2605834	rs_138793724	8 SubmittersRCV000352191 RCV000729626 RCV001553266 RCV000951867 RCV002278530
NM_052989.3(IFT122):c.1009-14C>T	SNV Germline	Chr3:129476649	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia 1	Criteria Provided Conflicting Classifications	CA2606050	rs_202155515	2 SubmittersRCV000358875
NM_003722.5(TP63):c.303G>A (p.Ser101=)	SNV Germline	Chr3:189738753	Conflicting classifications of pathogenicity	Orofacial cleft 8 Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 TP63-Related Spectrum Disorders	Criteria Provided Conflicting Classifications	CA2752072	rs_186864205	2 SubmittersRCV000280920 RCV000330162 RCV000375324
NM_003722.5(TP63):c.699A>G (p.Lys233=)	SNV Germline	Chr3:189864351	Conflicting classifications of pathogenicity	TP63-Related Spectrum Disorders Orofacial cleft 8 Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 TP63-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA2752229	rs_199727371	4 SubmittersRCV000291632 RCV000341676 RCV000399114 RCV003969993 RCV005243206
NM_003722.5(TP63):c.766+5G>A	SNV Germline	Chr3:189864423	Conflicting classifications of pathogenicity	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 Orofacial cleft 8 TP63-Related Spectrum Disorders	Criteria Provided Conflicting Classifications	CA2752235	rs_374425727	2 SubmittersRCV000312904 RCV000371099 RCV000406104
NM_003722.5(TP63):c.1374A>G (p.Ser458=)	SNV Germline	Chr3:189886418	Conflicting classifications of pathogenicity	Orofacial cleft 8 Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 TP63-Related Spectrum Disorders	Criteria Provided Conflicting Classifications	CA2752475	rs_141794685	2 SubmittersRCV000290920 RCV000345850 RCV000385271
NM_003722.5(TP63):c.*1181T>C	SNV Germline	Chr3:189895683	Conflicting classifications of pathogenicity	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 Orofacial cleft 8 TP63-Related Spectrum Disorders Condition: not provided	Criteria Provided Conflicting Classifications	CA10615930	rs_565556454	2 SubmittersRCV000268038 RCV000320774 RCV000359141 RCV003437092
NM_052989.3(IFT122):c.2577G>A (p.Glu859=)	SNV Germline	Chr3:129504348	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia 1	Criteria Provided Conflicting Classifications	CA2606575	rs_201077232	3 SubmittersRCV000275833
NM_052989.3(IFT122):c.3570G>T (p.Leu1190=)	SNV Germline	Chr3:129519666	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia 1	Criteria Provided Conflicting Classifications	CA2606967	rs_146778076	2 SubmittersRCV000269212
NM_052989.3(IFT122):c.228C>T (p.Ser76=)	SNV Germline	Chr3:129458633	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia 1	Criteria Provided Conflicting Classifications	CA2605751	rs_772835552	2 SubmittersRCV000313770
NM_052989.3(IFT122):c.829C>T (p.Arg277Trp)	SNV Germline	Chr3:129476327	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia 1	Criteria Provided Conflicting Classifications	CA2606009	rs_61744448	3 SubmittersRCV000272301
NM_052989.3(IFT122):c.2181C>T (p.Thr727=)	SNV Germline	Chr3:129495580	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia 1	Criteria Provided Conflicting Classifications	CA2606430	rs_545131069	2 SubmittersRCV000974010
NM_052989.3(IFT122):c.2433C>T (p.Cys811=)	SNV Germline	Chr3:129502768	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia 1 Connective tissue disorder	Criteria Provided Conflicting Classifications	CA2606519	rs_141626835	3 SubmittersRCV000945404 RCV002278534
NM_025132.4(WDR19):c.1173C>T (p.Asn391=)	SNV Germline	Chr4:39216134	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia 4 Asphyxiating thoracic dystrophy 5 WDR19-related disorder Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8	Criteria Provided Conflicting Classifications	CA2891791	rs_777985189	3 SubmittersRCV000393193 RCV000342172 RCV004530410 RCV003766008
NM_025132.4(WDR19):c.1357-7G>A	SNV Germline	Chr4:39217976	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia 4 Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 WDR19-related disorder	Criteria Provided Conflicting Classifications	CA2891833	rs_377101599	3 SubmittersRCV000270771 RCV000365336 RCV000955100 RCV004530411
NM_025132.4(WDR19):c.3358+15C>T	SNV Germline	Chr4:39268106	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 5 Cranioectodermal dysplasia 4 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5	Criteria Provided Conflicting Classifications	CA2892343	rs_750722358	2 SubmittersRCV000303611 RCV000356095 RCV002057927
NM_003722.5(TP63):c.1644C>T (p.Ser548=)	SNV Germline	Chr3:189889476	Conflicting classifications of pathogenicity	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 Orofacial cleft 8 TP63-Related Spectrum Disorders	Criteria Provided Conflicting Classifications	CA2752535	rs_763019843	2 SubmittersRCV000298655 RCV000353698 RCV000392141
NM_003722.5(TP63):c.*2426C>T	SNV Germline	Chr3:189896928	Conflicting classifications of pathogenicity	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 Orofacial cleft 8 TP63-Related Spectrum Disorders	Criteria Provided Conflicting Classifications	CA10617837	rs_568346565	1 SubmittersRCV000293115 RCV000334024 RCV000388520
NM_003722.5(TP63):c.*1939T>G	SNV Germline	Chr3:189896441	Conflicting classifications of pathogenicity	TP63-Related Spectrum Disorders Orofacial cleft 8 Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA10618241	rs_567626735	2 SubmittersRCV000283464 RCV000341965 RCV000380183 RCV003437093
NM_025132.4(WDR19):c.198A>T (p.Gly66=)	SNV Germline	Chr4:39189689	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 5 Cranioectodermal dysplasia 4 Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8	Criteria Provided Conflicting Classifications	CA2891563	rs_749815295	2 SubmittersRCV000347534 RCV000395136 RCV002520238
NM_025132.4(WDR19):c.1248T>C (p.Asn416=)	SNV Germline	Chr4:39216209	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia Jeune thoracic dystrophy Cranioectodermal dysplasia 4 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Spermatogenic failure 72 Nephronophthisis 13 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2891800	rs_772867899	4 SubmittersRCV000298705 RCV000400723 RCV002480216 RCV001850849 RCV004021962
NM_025132.4(WDR19):c.1839A>G (p.Leu613=)	SNV Germline	Chr4:39228547	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia 4 Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5	Criteria Provided Conflicting Classifications	CA2891949	rs_201320006	2 SubmittersRCV000280416 RCV000374932 RCV000895575
NM_025132.4(WDR19):c.3249T>C (p.Asp1083=)	SNV Germline	Chr4:39266128	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 5 Cranioectodermal dysplasia 4 Connective tissue disorder Condition: not provided not specified Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5	Criteria Provided Conflicting Classifications	CA2892303	rs_371128500	6 SubmittersRCV000289800 RCV000347138 RCV002278579 RCV001726139 RCV001699383 RCV001519086
NM_025132.4(WDR19):c.6+5A>G	SNV Germline	Chr4:39182568	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia 4 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Asphyxiating thoracic dystrophy 5	Criteria Provided Conflicting Classifications	CA2891496	rs_201198839	2 SubmittersRCV000292560 RCV002057925 RCV000386870
NM_025132.4(WDR19):c.1249+9A>G	SNV Germline	Chr4:39216219	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Cranioectodermal dysplasia Connective tissue disorder Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5	Criteria Provided Conflicting Classifications	CA2891801	rs_201377206	3 SubmittersRCV000353502 RCV000401556 RCV002278577 RCV000878418
NM_025132.4(WDR19):c.1932G>A (p.Thr644=)	SNV Germline	Chr4:39228640	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia 4 Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5	Criteria Provided Conflicting Classifications	CA10620972	rs_886059398	2 SubmittersRCV000335670 RCV002523470 RCV000397851
NM_025132.4(WDR19):c.1134+13T>G	SNV Germline	Chr4:39216026	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia Jeune thoracic dystrophy Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5	Criteria Provided Conflicting Classifications	CA2891781	rs_374615138	2 SubmittersRCV000286504 RCV000380856 RCV002057926
NM_025132.4(WDR19):c.2364-15T>C	SNV Germline	Chr4:39240262	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 5 Cranioectodermal dysplasia 4 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5	Criteria Provided Conflicting Classifications	CA2892063	rs_771036360	2 SubmittersRCV000266893 RCV000324388 RCV001429588
NM_025132.4(WDR19):c.3283T>C (p.Leu1095=)	SNV Germline	Chr4:39268016	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 5 Retinal dystrophy Cranioectodermal dysplasia 4 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5	Criteria Provided Conflicting Classifications	CA2892327	rs_769329045	3 SubmittersRCV000390270 RCV001074268 RCV000341521 RCV001413120
NM_025132.4(WDR19):c.3667C>T (p.Arg1223Cys)	SNV Germline	Chr4:39274909	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia 4 Asphyxiating thoracic dystrophy 5 Condition: not provided Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 WDR19-related disorder Spermatogenic failure 72 Asphyxiating thoracic dystrophy 5 Nephronophthisis 13 Cranioectodermal dysplasia 4 Senior-Loken syndrome 8	Criteria Provided Conflicting Classifications	CA2892440	rs_201597047	6 SubmittersRCV000288576 RCV000385239 RCV000488404 RCV001083150 RCV004530412 RCV005398477
NM_001110219.3(GJB6):c.60C>T (p.Ile20=)	SNV Germline	Chr13:20223421	Conflicting classifications of pathogenicity	Hidrotic ectodermal dysplasia syndrome Autosomal recessive nonsyndromic hearing loss 1B Autosomal dominant nonsyndromic hearing loss 3B Hidrotic ectodermal dysplasia syndrome Autosomal recessive nonsyndromic hearing loss 1A Condition: not provided	Criteria Provided Conflicting Classifications	CA6904520	rs_778513540	3 SubmittersRCV000266682 RCV000890545 RCV003409482
NM_001110219.3(GJB6):c.405G>A (p.Thr135=)	SNV Germline	Chr13:20223076	Conflicting classifications of pathogenicity	Hidrotic ectodermal dysplasia syndrome not specified Condition: not provided GJB6-related disorder Autosomal dominant nonsyndromic hearing loss 3B Autosomal recessive nonsyndromic hearing loss 1A Hidrotic ectodermal dysplasia syndrome Autosomal recessive nonsyndromic hearing loss 1B	Criteria Provided Conflicting Classifications	CA6904444	rs_145438428	5 SubmittersRCV000392327 RCV000612322 RCV001546167 RCV004537765 RCV002056360
NM_020529.3(NFKBIA):c.547+10C>T	SNV Germline	Chr14:35403140	Conflicting classifications of pathogenicity	Ectodermal dysplasia and immunodeficiency 2	Criteria Provided Conflicting Classifications	CA7155442	rs_201614038	2 SubmittersRCV000382961
NM_001399.5(EDA):c.827G>T (p.Arg276Leu)	SNV Germline	ChrX:70033431	Pathogenic/Likely pathogenic	Condition: not provided Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Multiple Submitters No Conflicts	CA16043276	rs_1057517731	2 SubmittersRCV000413141 RCV001865280
NM_001399.5(EDA):c.769G>C (p.Gly257Arg)	SNV Germline	ChrX:70030496	Conflicting classifications of pathogenicity	Condition: not provided Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Conflicting Classifications	CA16043329	rs_1057517882	2 SubmittersRCV000413515 RCV005090663
NM_152365.3(KDF1):c.753C>A (p.Phe251Leu)	SNV Germline	Chr1:26951628	Pathogenic	Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type	No Assertion Criteria Provided	CA16044286	rs_1057519508	1 SubmittersRCV000416757
NM_002742.3(PRKD1):c.1774G>A (p.Gly592Arg)	SNV Germline	Chr14:29626508	Pathogenic	Congenital heart defects and ectodermal dysplasia	No Assertion Criteria Provided	CA16044435	rs_1057519635	1 SubmittersRCV000417214
NM_002742.3(PRKD1):c.896T>G (p.Leu299Trp)	SNV Germline	Chr14:29638705	Pathogenic	Congenital heart defects and ectodermal dysplasia	No Assertion Criteria Provided	CA16044436	rs_1057519636	1 SubmittersRCV000417210
NM_052989.3(IFT122):c.2828A>G (p.Tyr943Cys)	SNV Germline	Chr3:129507704	Pathogenic/Likely pathogenic	Condition: not provided Cranioectodermal dysplasia 1	Criteria Provided Multiple Submitters No Conflicts	CA2606669	rs_776099605	2 SubmittersRCV000429099 RCV005230338
NM_001399.5(EDA):c.617C>T (p.Pro206Leu)	SNV Germline	ChrX:70027947	Likely pathogenic	Condition: not provided Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Multiple Submitters No Conflicts	CA16608975	rs_1057520742	2 SubmittersRCV000439320 RCV000526582
NM_001399.5(EDA):c.494G>C (p.Gly165Ala)	SNV Germline	ChrX:69957124	Pathogenic/Likely pathogenic	Condition: not provided Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Multiple Submitters No Conflicts	CA16609205	rs_1057521131	2 SubmittersRCV000432953 RCV000822954
NM_001039570.3(KREMEN1):c.626T>C (p.Phe209Ser)	SNV Germline	Chr22:29125411	Pathogenic	Ectodermal dysplasia 13, hair/tooth type	No Assertion Criteria Provided	CA16609282	rs_1057524917	1 SubmittersRCV000445554
NM_144991.3(TSPEAR):c.589C>T (p.Arg197Ter)	SNV Germline	Chr21:44531087	Pathogenic/Likely pathogenic	not specified Condition: not provided Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis Inborn genetic diseases TSPEAR-related disorder of tooth and hair follicle morphogenesis TSPEAR-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA10056947	rs_139455627	8 SubmittersRCV000455938 RCV000760528 RCV002289583 RCV001266951 RCV000708577 RCV003418147
NM_030916.3(NECTIN4):c.1327C>T (p.Arg443Cys)	SNV Germline	Chr1:161072867	Conflicting classifications of pathogenicity	Condition: not provided Ectodermal dysplasia-syndactyly syndrome 1 NECTIN4-related disorder	Criteria Provided Conflicting Classifications	CA1204817	rs_1537044	4 SubmittersRCV000481238 RCV000509115 RCV003932776
NM_022336.4(EDAR):c.1284T>G (p.Cys428Trp)	SNV Germline	Chr2:108896970	Conflicting classifications of pathogenicity	Condition: not provided Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Criteria Provided Conflicting Classifications	CA16617223	rs_886041005	2 SubmittersRCV000481594 RCV003766702
NM_025132.4(WDR19):c.2608G>A (p.Asp870Asn)	SNV Germline	Chr4:39244515	Conflicting classifications of pathogenicity	Condition: not provided Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Cranioectodermal dysplasia 4 not specified Asphyxiating thoracic dystrophy 5 WDR19-related disorder	Criteria Provided Conflicting Classifications	CA2892126	rs_201963605	6 SubmittersRCV000486591 RCV001078579 RCV001146438 RCV001821402 RCV001146437 RCV004535530
NM_001399.5(EDA):c.764G>A (p.Gly255Asp)	SNV Germline	ChrX:70030491	Likely pathogenic	Condition: not provided Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Multiple Submitters No Conflicts	CA16621473	rs_1064793105	3 SubmittersRCV000480945 RCV003522980
NM_001399.5(EDA):c.1144G>A (p.Ala382Thr)	SNV Germline	ChrX:70035577	Likely pathogenic	Condition: not provided Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Multiple Submitters No Conflicts	CA16621477	rs_749830948	2 SubmittersRCV000480786 RCV001851133
NM_030916.3(NECTIN4):c.724G>A (p.Val242Met)	SNV Germline	Chr1:161077459	Pathogenic	Ectodermal dysplasia-syndactyly syndrome 1	No Assertion Criteria Provided	CA343354211	rs_1085307124	1 SubmittersRCV000488417
NM_030916.3(NECTIN4):c.181C>T (p.Gln61Ter)	SNV Germline	Chr1:161079848	Pathogenic	Ectodermal dysplasia-syndactyly syndrome 1	No Assertion Criteria Provided	CA343357994	rs_1085307125	1 SubmittersRCV000488420
NM_001399.5(EDA):c.180C>A (p.Cys60Ter)	SNV Germline	ChrX:69616488	Pathogenic	Hypohidrotic X-linked ectodermal dysplasia	No Assertion Criteria Provided	CA413447241	rs_1131692034	1 SubmittersRCV000494692
NM_001099857.5(IKBKG):c.185G>A (p.Arg62Gln)	SNV Germline	ChrX:154552187	Conflicting classifications of pathogenicity	Ectodermal dysplasia and immunodeficiency 1 Inborn genetic diseases Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA10566450	rs_782604431	5 SubmittersRCV000615929 RCV002527122 RCV003437228 RCV004586742
NM_020779.4(WDR35):c.206G>A (p.Gly69Asp)	SNV Germline	Chr2:19982471	Pathogenic/Likely pathogenic	Short-rib thoracic dysplasia 6 with or without polydactyly Cranioectodermal dysplasia 2 Short-rib thoracic dysplasia 7 with or without polydactyly Condition: not provided WDR35-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA43388469	rs_765513105	9 SubmittersRCV000515824 RCV000591001 RCV003326443 RCV004696921 RCV005222974
NM_020779.4(WDR35):c.2964+10C>A	SNV Germline	Chr2:19931259	Conflicting classifications of pathogenicity	not specified Condition: not provided Cranioectodermal dysplasia 2 Short-rib thoracic dysplasia 7 with or without polydactyly Cranioectodermal dysplasia 2 Short-rib thoracic dysplasia 7 with or without polydactyly WDR35-related disorder	Criteria Provided Conflicting Classifications	CA1542797	rs_201207790	5 SubmittersRCV000500670 RCV000727423 RCV001088989 RCV001139096 RCV001139097 RCV004732908
NM_025132.4(WDR19):c.3008A>G (p.Glu1003Gly)	SNV Germline	Chr4:39255854	Conflicting classifications of pathogenicity	not specified Condition: not provided Connective tissue disorder Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Cranioectodermal dysplasia 4 Asphyxiating thoracic dystrophy 5 WDR19-related disorder Spermatogenic failure 72 Senior-Loken syndrome 8 Cranioectodermal dysplasia 4 Asphyxiating thoracic dystrophy 5 Nephronophthisis 13	Criteria Provided Conflicting Classifications	CA2892240	rs_201354264	8 SubmittersRCV000500098 RCV001532019 RCV002279282 RCV000951959 RCV001149215 RCV001149216 RCV004541573 RCV005398722
NM_020779.4(WDR35):c.1382G>A (p.Arg461Gln)	SNV Germline	Chr2:19953852	Likely pathogenic	Cranioectodermal dysplasia 2	Criteria Provided Single Submitter	CA1543248	rs_200140363	1 SubmittersRCV000504572
NM_206996.4(SPAG17):c.1069G>C (p.Asp357His)	SNV Germline	Chr1:118093260	Likely pathogenic	Cranioectodermal dysplasia 2 Meniere disease	Criteria Provided Single Submitter	CA1034400	rs_183758503	2 SubmittersRCV000504571 RCV004568643
NM_025132.4(WDR19):c.3308G>A (p.Arg1103Gln)	SNV Germline	Chr4:39268041	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia 4 Spermatogenic failure 72 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Nephronophthisis 13 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2892335	rs_567310076	4 SubmittersRCV002481645 RCV001227801 RCV001811019 RCV004965520
NM_020779.4(WDR35):c.3170A>G (p.Tyr1057Cys)	SNV Germline	Chr2:19914229	Conflicting classifications of pathogenicity	not specified Cranioectodermal dysplasia 2 Inborn genetic diseases Cranioectodermal dysplasia 2 Short-rib thoracic dysplasia 7 with or without polydactyly	Criteria Provided Conflicting Classifications	CA1542728	rs_541910371	5 SubmittersRCV000507380 RCV000578488 RCV001266500 RCV005027590
NM_020779.4(WDR35):c.3335A>G (p.Lys1112Arg)	SNV Germline	Chr2:19914064	Conflicting classifications of pathogenicity	Short-rib thoracic dysplasia 7 with or without polydactyly Cranioectodermal dysplasia 2 WDR35-related disorder Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA1542695	rs_138007924	4 SubmittersRCV000964762 RCV004541590 RCV005520293 RCV005230990
NM_020779.4(WDR35):c.932G>T (p.Trp311Leu)	SNV Germline	Chr2:19969556	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy SHORT-RIB THORACIC DYSPLASIA 7 WITHOUT POLYDACTYLY Short-rib thoracic dysplasia 7/20 with polydactyly, digenic Short-rib thoracic dysplasia 7 with or without polydactyly Short rib-polydactyly syndrome Cranioectodermal dysplasia 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA1543388	rs_200649783	7 SubmittersRCV000516065 RCV000578486 RCV000608080 RCV000755748 RCV000851218 RCV001353118 RCV001764511
NM_025132.4(WDR19):c.817A>G (p.Asn273Asp)	SNV Germline	Chr4:39205663	Conflicting classifications of pathogenicity	Jeune thoracic dystrophy Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Cranioectodermal dysplasia 4 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Nephronophthisis 13 Spermatogenic failure 72	Criteria Provided Conflicting Classifications	CA2891712	rs_375644378	4 SubmittersRCV000515807 RCV001204687 RCV002476032
NM_025132.4(WDR19):c.880G>A (p.Gly294Arg)	SNV Germline	Chr4:39205726	Pathogenic/Likely pathogenic	Jeune thoracic dystrophy Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Cranioectodermal dysplasia 4 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Nephronophthisis 13 Spermatogenic failure 72	Criteria Provided Multiple Submitters No Conflicts	CA2891724	rs_377160857	4 SubmittersRCV000516052 RCV001851417 RCV005034058
NM_025132.4(WDR19):c.3716+1G>A	SNV Germline	Chr4:39274959	Likely pathogenic	Jeune thoracic dystrophy Cranioectodermal dysplasia 4 Asphyxiating thoracic dystrophy 5 Nephronophthisis 13 Spermatogenic failure 72 Senior-Loken syndrome 8	Criteria Provided Single Submitter	CA356651027	rs_1191056931	3 SubmittersRCV000515837 RCV005034059
NM_022336.4(EDAR):c.903C>A (p.Cys301Ter)	SNV Germline	Chr2:108907920	Pathogenic	Condition: not provided Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	Criteria Provided Multiple Submitters No Conflicts	CA1824889	rs_199544410	2 SubmittersRCV000521198 RCV002231202
NM_001099857.5(IKBKG):c.1117+5G>C	SNV Germline	ChrX:154564025	Likely pathogenic	Condition: not provided ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1, MALE-RESTRICTED Incontinentia pigmenti syndrome	Criteria Provided Single Submitter	CA658659077	rs_1557236796	2 SubmittersRCV000523987 RCV001172480 RCV001172481
NM_001399.5(EDA):c.646C>T (p.Pro216Ser)	SNV Germline	ChrX:70027976	Conflicting classifications of pathogenicity	Condition: not provided Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Conflicting Classifications	CA413448418	rs_1556098806	2 SubmittersRCV000521166 RCV001212052
NM_001399.5(EDA):c.998C>G (p.Thr333Arg)	SNV Germline	ChrX:70035431	Pathogenic/Likely pathogenic	Condition: not provided Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Multiple Submitters No Conflicts	CA413449743	rs_1556110379	2 SubmittersRCV000524024 RCV002295301
NM_145861.4(EDARADD):c.417G>A (p.Trp139Ter)	SNV Germline	Chr1:236482418	Pathogenic	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive	Criteria Provided Single Submitter	CA39702043	rs_954823206	1 SubmittersRCV000549383
NM_022336.4(EDAR):c.1132G>A (p.Ala378Thr)	SNV Germline	Chr2:108897122	Pathogenic	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Criteria Provided Single Submitter	CA348048154	rs_1310296844	1 SubmittersRCV002231725
NM_022336.4(EDAR):c.1163T>C (p.Ile388Thr)	SNV Germline	Chr2:108897091	Conflicting classifications of pathogenicity	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA53464780	rs_917638291	2 SubmittersRCV000531671 RCV002307537
NM_022336.4(EDAR):c.1024+1G>A	SNV Germline	Chr2:108906307	Pathogenic	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Criteria Provided Single Submitter	CA348050306	rs_1553444895	1 SubmittersRCV002231724
NM_022336.4(EDAR):c.43G>A (p.Val15Ile)	SNV Germline	Chr2:108930972	Conflicting classifications of pathogenicity	Non-syndromic oligodontia Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1825249	rs_151195196	3 SubmittersRCV001261887 RCV002231728 RCV003105949
NM_020779.4(WDR35):c.1248T>G (p.Ile416Met)	SNV Germline	Chr2:19960561	Conflicting classifications of pathogenicity	Short-rib thoracic dysplasia 7 with or without polydactyly Cranioectodermal dysplasia 2 Cranioectodermal dysplasia 2 not specified Short-rib thoracic dysplasia 7 with or without polydactyly Condition: not provided WDR35-related disorder	Criteria Provided Conflicting Classifications	CA1543288	rs_144701688	6 SubmittersRCV000552845 RCV001141934 RCV000593049 RCV001141933 RCV001570965 RCV004538037
NM_020779.4(WDR35):c.725A>G (p.Glu242Gly)	SNV Germline	Chr2:19974479	Conflicting classifications of pathogenicity	Short-rib thoracic dysplasia 7 with or without polydactyly Cranioectodermal dysplasia 2 WDR35-related disorder	Criteria Provided Conflicting Classifications	CA1543459	rs_139543775	3 SubmittersRCV000552925 RCV004732943
NM_003722.5(TP63):c.739C>T (p.His247Tyr)	SNV Germline	Chr3:189864391	Pathogenic/Likely pathogenic	TP63-Related Spectrum Disorders Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3	Criteria Provided Multiple Submitters No Conflicts	CA355753773	rs_1553856553	2 SubmittersRCV000559680 RCV000851194
NM_025132.4(WDR19):c.2239A>G (p.Ile747Val)	SNV Germline	Chr4:39232258	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Cranioectodermal dysplasia 4 Asphyxiating thoracic dystrophy 5 Nephronophthisis 13 Cranioectodermal dysplasia 4 Spermatogenic failure 72 Senior-Loken syndrome 8	Criteria Provided Conflicting Classifications	CA2892033	rs_144335584	3 SubmittersRCV000542232 RCV001150601 RCV001150602 RCV005398865
NM_001399.5(EDA):c.479G>A (p.Ser160Asn)	SNV Germline	ChrX:69957109	Pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Single Submitter	CA413447991	rs_1556039088	1 SubmittersRCV000559389
NM_001399.5(EDA):c.476G>C (p.Arg159Thr)	SNV Germline	ChrX:69957106	Likely pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Single Submitter	CA413447985	rs_1556039084	1 SubmittersRCV000544580
NM_001399.5(EDA):c.628G>T (p.Gly210Ter)	SNV Germline	ChrX:70027958	Pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Single Submitter	CA413448380	rs_1556098733	1 SubmittersRCV000536911
NM_001399.5(EDA):c.970G>A (p.Val324Met)	SNV Germline	ChrX:70035403	Pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Single Submitter	CA413449530	rs_1556110308	1 SubmittersRCV000555399
NM_020779.4(WDR35):c.3426G>T (p.Trp1142Cys)	SNV Germline	Chr2:19913645	Pathogenic	Cranioectodermal dysplasia 2	No Assertion Criteria Provided	CA346230642	rs_1553313859	1 SubmittersRCV000578479
NM_020779.4(WDR35):c.1051C>G (p.Pro351Ala)	SNV Germline	Chr2:19966867	Conflicting classifications of pathogenicity	Condition: not provided Cranioectodermal dysplasia 2 Short-rib thoracic dysplasia 7 with or without polydactyly Cranioectodermal dysplasia 2 Short-rib thoracic dysplasia 7 with or without polydactyly WDR35-related disorder	Criteria Provided Conflicting Classifications	CA1543357	rs_140753861	5 SubmittersRCV000592980 RCV001139418 RCV001370744 RCV001139419 RCV004543315
NM_020779.4(WDR35):c.1072G>A (p.Val358Ile)	SNV Germline	Chr2:19966846	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia 2 Short-rib thoracic dysplasia 7 with or without polydactyly Short-rib thoracic dysplasia 7 with or without polydactyly Cranioectodermal dysplasia 2 Condition: not provided WDR35-related disorder	Criteria Provided Conflicting Classifications	CA1543350	rs_151227688	5 SubmittersRCV001137179 RCV001137180 RCV001351694 RCV000591516 RCV004543316
NM_003722.5(TP63):c.678C>T (p.Arg226=)	SNV Germline	Chr3:189864330	Conflicting classifications of pathogenicity	Condition: not provided Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 Orofacial cleft 8 TP63-Related Spectrum Disorders TP63-related disorder	Criteria Provided Conflicting Classifications	CA2752226	rs_61732782	5 SubmittersRCV000592530 RCV001147522 RCV001147521 RCV001147523 RCV003915696
NM_001110219.3(GJB6):c.111G>A (p.Val37=)	SNV Germline	Chr13:20223370	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive nonsyndromic hearing loss 1A Hidrotic ectodermal dysplasia syndrome Autosomal recessive nonsyndromic hearing loss 1B Autosomal dominant nonsyndromic hearing loss 3B GJB6-related disorder	Criteria Provided Conflicting Classifications	CA6904508	rs_543659673	3 SubmittersRCV000593231 RCV002062028 RCV004543340
NM_022336.4(EDAR):c.529+1G>A	SNV Germline	Chr2:108912677	Pathogenic	Ectodermal dysplasia	Criteria Provided Single Submitter	CA348054462	rs_1553445945	1 SubmittersRCV000613299
NM_144991.3(TSPEAR):c.1528C>T (p.Arg510Ter)	SNV Germline	Chr21:44521921	Conflicting classifications of pathogenicity	not specified Inborn genetic diseases Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis Tooth agenesis, selective, 10 Condition: not provided TSPEAR-related disorder	Criteria Provided Conflicting Classifications	CA10056546	rs_201663789	8 SubmittersRCV000612980 RCV001265889 RCV002470929 RCV002470930 RCV002529302 RCV004754495
NM_144991.3(TSPEAR):c.1697A>G (p.Tyr566Cys)	SNV Germline	Chr21:44509256	Conflicting classifications of pathogenicity	not specified Condition: not provided Inborn genetic diseases Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis Autosomal recessive nonsyndromic hearing loss 98	Criteria Provided Conflicting Classifications	CA10056416	rs_782088056	4 SubmittersRCV000612197 RCV002529321 RCV003352937 RCV002506452
NM_022336.4(EDAR):c.985A>T (p.Ile329Phe)	SNV Germline	Chr2:108906347	Conflicting classifications of pathogenicity	Inborn genetic diseases Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	Criteria Provided Conflicting Classifications	CA348050488	rs_1553444917	2 SubmittersRCV000623679 RCV002533140
NM_022336.4(EDAR):c.278G>C (p.Cys93Ser)	SNV Germline	Chr2:108929276	Pathogenic	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	Criteria Provided Single Submitter	CA348115698	rs_1553448320	1 SubmittersRCV000626106
NM_014714.4(IFT140):c.2177C>T (p.Pro726Leu)	SNV Germline	Chr16:1562007	Pathogenic	Saldino-Mainzer syndrome Cranioectodermal dysplasia Saldino-Mainzer syndrome	Criteria Provided Single Submitter	CA394203209	rs_1417500285	2 SubmittersRCV000626464 RCV005260252
NM_022336.4(EDAR):c.292C>T (p.Arg98Trp)	SNV Germline	Chr2:108929262	Pathogenic/Likely pathogenic	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Condition: not provided Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA54012145	rs_557166582	4 SubmittersRCV000639389 RCV001090262 RCV001253683
NM_052989.3(IFT122):c.1252G>A (p.Asp418Asn)	SNV Germline	Chr3:129478120	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia 1 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2606114	rs_148626512	4 SubmittersRCV000637014 RCV001756057 RCV004025487
NM_001399.5(EDA):c.741G>A (p.Gln247=)	SNV Germline	ChrX:70029538	Pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Single Submitter	CA517012831	rs_886042183	1 SubmittersRCV000633505
NM_025132.4(WDR19):c.1623C>G (p.Tyr541Ter)	SNV Germline	Chr4:39225027	Pathogenic	Cranioectodermal dysplasia Spermatogenic failure 72 Asphyxiating thoracic dystrophy 5 Nephronophthisis 13 Senior-Loken syndrome 8 Cranioectodermal dysplasia 4 Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8	Criteria Provided Multiple Submitters No Conflicts	CA2891893	rs_771148519	3 SubmittersRCV000754959 RCV002499193 RCV003106018
NM_022336.4(EDAR):c.265C>T (p.Arg89Cys)	SNV Germline	Chr2:108929289	Pathogenic	Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	Criteria Provided Single Submitter	CA1825141	rs_780424781	2 SubmittersRCV000681479 RCV002531420
NM_025132.4(WDR19):c.14T>C (p.Phe5Ser)	SNV Germline	Chr4:39185733	Conflicting classifications of pathogenicity	Condition: not provided Retinal dystrophy Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Senior-Loken syndrome 8 Spermatogenic failure 72 Asphyxiating thoracic dystrophy 5 Nephronophthisis 13 Senior-Loken syndrome 8 Cranioectodermal dysplasia 4	Criteria Provided Conflicting Classifications	CA356630223	rs_1237494778	5 SubmittersRCV000681867 RCV001074270 RCV001212612 RCV003319401 RCV005027838
NM_022336.4(EDAR):c.931G>T (p.Glu311Ter)	SNV Germline	Chr2:108907892	Pathogenic	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Criteria Provided Single Submitter	CA348050804	rs_1432041144	1 SubmittersRCV000689707
NM_022336.4(EDAR):c.175-2A>G	SNV Germline	Chr2:108929381	Likely pathogenic	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Criteria Provided Single Submitter	CA1825161	rs_757233170	1 SubmittersRCV002233266
NM_020779.4(WDR35):c.3345G>A (p.Leu1115=)	SNV Germline	Chr2:19914054	Pathogenic	Short-rib thoracic dysplasia 7 with or without polydactyly Cranioectodermal dysplasia 2 Cranioectodermal dysplasia 2	Criteria Provided Multiple Submitters No Conflicts	CA1542693	rs_746128772	2 SubmittersRCV000691580 RCV003333099
NM_020779.4(WDR35):c.994C>T (p.Arg332Ter)	SNV Germline	Chr2:19969494	Pathogenic	Cranioectodermal dysplasia 2 Short-rib thoracic dysplasia 7 with or without polydactyly WDR35-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA43422647	rs_199840434	3 SubmittersRCV000703020 RCV004733009
NM_020779.4(WDR35):c.1381C>T (p.Arg461Ter)	SNV Germline	Chr2:19953853	Pathogenic	Short-rib thoracic dysplasia 7 with or without polydactyly Cranioectodermal dysplasia 2	Criteria Provided Single Submitter	CA1543249	rs_767751856	1 SubmittersRCV000693381
NM_025132.4(WDR19):c.1982+2T>C	SNV Germline	Chr4:39228692	Likely pathogenic	Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Spermatogenic failure 72 Asphyxiating thoracic dystrophy 5 Nephronophthisis 13 Cranioectodermal dysplasia 4 Senior-Loken syndrome 8	Criteria Provided Multiple Submitters No Conflicts	CA2891975	rs_780847651	2 SubmittersRCV000688346 RCV005034296
NM_052989.3(IFT122):c.349+1G>A	SNV Germline	Chr3:129461305	Likely pathogenic	Cranioectodermal dysplasia 1	Criteria Provided Single Submitter	CA354471809	rs_1559869525	1 SubmittersRCV000705197
NM_052989.3(IFT122):c.565C>T (p.Arg189Ter)	SNV Germline	Chr3:129466891	Pathogenic/Likely pathogenic	Cranioectodermal dysplasia 1 IFT122-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA2605923	rs_138329739	4 SubmittersRCV000705716 RCV003392543
NM_020529.3(NFKBIA):c.337-3T>C	SNV Germline	Chr14:35403363	Conflicting classifications of pathogenicity	Ectodermal dysplasia and immunodeficiency 2	Criteria Provided Conflicting Classifications	CA7155486	rs_756930611	2 SubmittersRCV000699568
NM_020529.3(NFKBIA):c.409C>T (p.Pro137Ser)	SNV Germline	Chr14:35403288	Conflicting classifications of pathogenicity	Ectodermal dysplasia and immunodeficiency 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7155473	rs_147627228	2 SubmittersRCV000691977 RCV005384818
NM_001399.5(EDA):c.526+5G>A	SNV Germline	ChrX:70023246	Likely pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Single Submitter	CA891844051	rs_397516664	1 SubmittersRCV000705031
NM_001399.5(EDA):c.527-2A>T	SNV Germline	ChrX:70027855	Pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Single Submitter	CA413448167	rs_1569404780	1 SubmittersRCV000689256
NM_001399.5(EDA):c.167T>A (p.Leu56Gln)	SNV Germline	ChrX:69616475	Pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Single Submitter	CA413447211	rs_1569272203	1 SubmittersRCV000690311
NM_001399.5(EDA):c.641T>A (p.Met214Lys)	SNV Germline	ChrX:70027971	Likely pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Single Submitter	CA413448404	rs_1569404950	1 SubmittersRCV000701321
NM_001399.5(EDA):c.986T>C (p.Phe329Ser)	SNV Germline	ChrX:70035419	Pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Single Submitter	CA413449661	rs_1569407150	1 SubmittersRCV000706370
NM_001399.5(EDA):c.1133C>T (p.Thr378Met)	SNV Germline	ChrX:70035566	Pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Single Submitter	CA413450428	rs_1569407346	1 SubmittersRCV000707398
NM_020529.3(NFKBIA):c.107C>A (p.Ser36Tyr)	SNV Unknown	Chr14:35404538	Pathogenic	Ectodermal dysplasia and immunodeficiency 2	No Assertion Criteria Provided	CA389455297	rs_1566591076	1 SubmittersRCV000721149
NM_020529.3(NFKBIA):c.94A>G (p.Ser32Gly)	SNV Germline	Chr14:35404551	Pathogenic	Ectodermal dysplasia and immunodeficiency 2	No Assertion Criteria Provided	CA389455326	rs_1566591086	1 SubmittersRCV000721150
NM_020529.3(NFKBIA):c.96C>G (p.Ser32Arg)	SNV Germline	Chr14:35404549	Pathogenic	Ectodermal dysplasia and immunodeficiency 2	No Assertion Criteria Provided	CA389455321	rs_1566591082	1 SubmittersRCV000721151
NM_020529.3(NFKBIA):c.95G>A (p.Ser32Asn)	SNV Germline	Chr14:35404550	Pathogenic	Ectodermal dysplasia and immunodeficiency 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA389455323	rs_28933100	3 SubmittersRCV000721152 RCV002067072
NM_052989.3(IFT122):c.1148-1G>C	SNV Germline	Chr3:129478015	Pathogenic/Likely pathogenic	Condition: not provided Cranioectodermal dysplasia 1	Criteria Provided Multiple Submitters No Conflicts	CA2606097	rs_755005244	3 SubmittersRCV000728677 RCV002477685
NM_144991.3(TSPEAR):c.1423G>A (p.Gly475Ser)	SNV Germline	Chr21:44522026	Conflicting classifications of pathogenicity	Condition: not provided Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis	Criteria Provided Conflicting Classifications	CA10056579	rs_782056388	3 SubmittersRCV000729029 RCV002289998
NM_144991.3(TSPEAR):c.1469T>A (p.Leu490Gln)	SNV Germline	Chr21:44521980	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive nonsyndromic hearing loss 98 Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis	Criteria Provided Conflicting Classifications	CA10056565	rs_781994662	3 SubmittersRCV000729287 RCV002493313
NM_003722.5(TP63):c.504C>T (p.Asn168=)	SNV Germline	Chr3:189808451	Conflicting classifications of pathogenicity	Condition: not provided TP63-Related Spectrum Disorders Orofacial cleft 8 Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3	Criteria Provided Conflicting Classifications	CA2752155	rs_141278696	4 SubmittersRCV000730046 RCV001079102 RCV001147519 RCV001147520
NM_052989.3(IFT122):c.1526T>C (p.Val509Ala)	SNV Germline	Chr3:129481567	Conflicting classifications of pathogenicity	Condition: not provided Cranioectodermal dysplasia 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2606212	rs_191420441	3 SubmittersRCV000731240 RCV001432301 RCV005338338
NM_020779.4(WDR35):c.143-4T>C	SNV Germline	Chr2:19982538	Conflicting classifications of pathogenicity	Condition: not provided Cranioectodermal dysplasia 2 Short-rib thoracic dysplasia 7 with or without polydactyly	Criteria Provided Conflicting Classifications	CA530850803	rs_1180620404	2 SubmittersRCV000731282 RCV002067115
NM_001102564.3(IFT43):c.296-5602T>C	SNV Germline	Chr14:76076693	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa 81 Connective tissue disorder Cranioectodermal dysplasia 3 Short-rib thoracic dysplasia 18 with polydactyly	Criteria Provided Conflicting Classifications	CA7280808	rs_141114765	6 SubmittersRCV000731746 RCV001197867 RCV002279505 RCV005357972
NM_144991.3(TSPEAR):c.1754G>T (p.Ser585Ile)	SNV Germline	Chr21:44509199	Conflicting classifications of pathogenicity	Condition: not provided Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis	Criteria Provided Conflicting Classifications	CA10056396	rs_782716325	5 SubmittersRCV000733208 RCV002470965
NM_052989.3(IFT122):c.1488+10C>T	SNV Germline	Chr3:129479932	Conflicting classifications of pathogenicity	Condition: not provided Cranioectodermal dysplasia 1	Criteria Provided Conflicting Classifications	CA2606178	rs_766274915	2 SubmittersRCV000733831 RCV003768237
NM_025132.4(WDR19):c.2577G>A (p.Ala859=)	SNV Germline	Chr4:39244484	Conflicting classifications of pathogenicity	Condition: not provided Cranioectodermal dysplasia 4 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Asphyxiating thoracic dystrophy 5	Criteria Provided Conflicting Classifications	CA2892119	rs_753596825	3 SubmittersRCV000756914 RCV001146435 RCV001483312 RCV001146436
NM_052989.3(IFT122):c.2017C>T (p.Arg673Ter)	SNV Germline	Chr3:129492165	Likely pathogenic	Condition: not provided Cranioectodermal dysplasia 1	Criteria Provided Multiple Submitters No Conflicts	CA354479351	rs_1185183557	2 SubmittersRCV000760919 RCV002500985
NM_001399.5(EDA):c.161A>T (p.His54Leu)	SNV Germline	ChrX:69616469	Likely pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Single Submitter	CA413447202	rs_1569272194	1 SubmittersRCV000761232
NM_020779.4(WDR35):c.2842A>T (p.Lys948Ter)	SNV Germline	Chr2:19931391	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia 2 Cranioectodermal dysplasia 2 Short-rib thoracic dysplasia 7 with or without polydactyly	Criteria Provided Conflicting Classifications	CA1542823	rs_749233041	2 SubmittersRCV004821291 RCV005029428
NM_025132.4(WDR19):c.641T>A (p.Leu214Ter)	SNV Germline	Chr4:39205191	Pathogenic/Likely pathogenic	Retinal dystrophy Condition: not provided Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Cranioectodermal dysplasia 4 Senior-Loken syndrome 8 Spermatogenic failure 72 Asphyxiating thoracic dystrophy 5 Nephronophthisis 13 Cranioectodermal dysplasia 4	Criteria Provided Multiple Submitters No Conflicts	CA2891673	rs_751290509	9 SubmittersRCV001074152 RCV001701316 RCV001387309 RCV002225117 RCV005036110
NM_022336.4(EDAR):c.1300T>G (p.Trp434Gly)	SNV Germline	Chr2:108896954	Pathogenic	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	No Assertion Criteria Provided	CA348047578	rs_773885029	1 SubmittersRCV000782364
NM_020529.3(NFKBIA):c.228-15C>T	SNV Germline	Chr14:35403813	Conflicting classifications of pathogenicity	Ectodermal dysplasia and immunodeficiency 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA7155548	rs_752721097	2 SubmittersRCV002068545 RCV000788545
NM_020779.4(WDR35):c.853A>T (p.Ile285Phe)	SNV Germline	Chr2:19973592	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia 2 Short-rib thoracic dysplasia 7 with or without polydactyly Condition: not provided Cranioectodermal dysplasia 2 Short-rib thoracic dysplasia 7 with or without polydactyly Connective tissue disorder	Criteria Provided Conflicting Classifications	CA1543420	rs_200059077	9 SubmittersRCV000818716 RCV001729713 RCV001140198 RCV001140199 RCV002279547
NM_001399.5(EDA):c.181T>A (p.Tyr61Asn)	SNV Germline	ChrX:69616489	Likely pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Single Submitter	CA413447243	rs_132630308	1 SubmittersRCV000812806
NM_001399.5(EDA):c.670G>C (p.Gly224Arg)	SNV Germline	ChrX:70028000	Pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Single Submitter	CA413448464	rs_1602618398	1 SubmittersRCV000822121
NM_001399.5(EDA):c.995G>A (p.Cys332Tyr)	SNV Germline	ChrX:70035428	Likely pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Single Submitter	CA413449717	rs_1602624745	1 SubmittersRCV000802915
NM_001399.5(EDA):c.706+5G>T	SNV Germline	ChrX:70028041	Pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Single Submitter	CA915951154	rs_780966428	1 SubmittersRCV000810069
NM_001399.5(EDA):c.526+5G>C	SNV Germline	ChrX:70023246	Pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Single Submitter	CA642453526	rs_397516664	1 SubmittersRCV000799606
NM_001323.4(CST6):c.361C>T (p.Gln121Ter)	SNV Germline	Chr11:66012946	Pathogenic	Ectodermal dysplasia 15, hypohidrotic/hair type	No Assertion Criteria Provided	CA381317231	rs_1590674994	1 SubmittersRCV000824677
NM_020779.4(WDR35):c.3122-3T>C	SNV Germline	Chr2:19914280	Conflicting classifications of pathogenicity	Condition: not provided WDR35-related disorder Cranioectodermal dysplasia 2 Short-rib thoracic dysplasia 7 with or without polydactyly	Criteria Provided Conflicting Classifications	CA1542732	rs_751769266	4 SubmittersRCV000827170 RCV004540125 RCV001858418
NM_003722.5(TP63):c.1685T>C (p.Leu562Pro)	SNV Germline	Chr3:189890821	Pathogenic/Likely pathogenic	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA355758994	rs_774221257	2 SubmittersRCV000850386 RCV005253652
NM_001664.4(RHOA):c.139G>A (p.Glu47Lys)	SNV Germline/somatic	Chr3:49375451	Pathogenic	neuro-ectodermal phenotype Hemihypertrophy Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA352788014	rs_1575653629	7 SubmittersRCV001095368 RCV001526536 RCV001526531 RCV001539108
NM_001399.5(EDA):c.458G>A (p.Arg153His)	SNV Germline	ChrX:69957088	Conflicting classifications of pathogenicity	Hypohidrotic X-linked ectodermal dysplasia Condition: not provided	Criteria Provided Conflicting Classifications	CA10438924	rs_140642493	6 SubmittersRCV000990854 RCV002293495
NM_001399.5(EDA):c.464G>A (p.Arg155His)	SNV Germline	ChrX:69957094	Conflicting classifications of pathogenicity	Hypohidrotic X-linked ectodermal dysplasia Condition: not provided	Criteria Provided Conflicting Classifications	CA10438925	rs_144403117	3 SubmittersRCV000870968 RCV003225133
NM_020779.4(WDR35):c.2573T>C (p.Val858Ala)	SNV Germline	Chr2:19933486	Conflicting classifications of pathogenicity	Condition: not provided Cranioectodermal dysplasia 2 Short-rib thoracic dysplasia 7 with or without polydactyly WDR35-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1542905	rs_759587265	4 SubmittersRCV000954000 RCV001491396 RCV004543591 RCV003243382
NM_052989.3(IFT122):c.783G>A (p.Gln261=)	SNV Germline	Chr3:129469384	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia 1	Criteria Provided Conflicting Classifications	CA2605987	rs_144727222	2 SubmittersRCV001145257
NM_003722.5(TP63):c.900G>A (p.Thr300=)	SNV Germline	Chr3:189867850	Conflicting classifications of pathogenicity	TP63-Related Spectrum Disorders Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 Orofacial cleft 8	Criteria Provided Conflicting Classifications	CA2752295	rs_372807713	2 SubmittersRCV001146716 RCV001146717 RCV001146718
NM_025132.4(WDR19):c.1566C>T (p.Pro522=)	SNV Germline	Chr4:39224970	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Cranioectodermal dysplasia 4 not specified	Criteria Provided Conflicting Classifications	CA2891882	rs_200692490	3 SubmittersRCV000951175 RCV001144396 RCV001150486 RCV005436399
NM_001399.5(EDA):c.1168G>A (p.Ala390Thr)	SNV Germline	ChrX:70035601	Conflicting classifications of pathogenicity	Hypohidrotic X-linked ectodermal dysplasia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10439059	rs_746523921	2 SubmittersRCV000949205 RCV002548240
NM_002855.5(NECTIN1):c.130G>A (p.Gly44Ser)	SNV Germline	Chr11:119678715	Conflicting classifications of pathogenicity	Condition: not provided Cleft lip/palate-ectodermal dysplasia syndrome NECTIN1-related disorder	Criteria Provided Conflicting Classifications	CA6322162	rs_137991779	4 SubmittersRCV000968953 RCV001105115 RCV003943183
NM_052989.3(IFT122):c.3051C>T (p.His1017=)	SNV Germline	Chr3:129514452	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia 1 Connective tissue disorder	Criteria Provided Conflicting Classifications	CA2606765	rs_538635135	2 SubmittersRCV002540067 RCV002279611
NM_025132.4(WDR19):c.1366G>A (p.Glu456Lys)	SNV Germline	Chr4:39217992	Conflicting classifications of pathogenicity	Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 WDR19-related disorder Spermatogenic failure 72 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Nephronophthisis 13 Cranioectodermal dysplasia 4	Criteria Provided Conflicting Classifications	CA2891835	rs_539621646	3 SubmittersRCV001460840 RCV004735860 RCV005036248
NM_002855.5(NECTIN1):c.1347C>T (p.Gly449=)	SNV Germline	Chr11:119664954	Conflicting classifications of pathogenicity	Condition: not provided Cleft lip/palate-ectodermal dysplasia syndrome NECTIN1-related disorder	Criteria Provided Conflicting Classifications	CA6321808	rs_116441631	3 SubmittersRCV000889696 RCV001106157 RCV003920739
NM_002855.5(NECTIN1):c.596G>A (p.Arg199Gln)	SNV Germline	Chr11:119677692	Conflicting classifications of pathogenicity	Condition: not provided Cleft lip/palate-ectodermal dysplasia syndrome NECTIN1-related disorder	Criteria Provided Conflicting Classifications	CA6322048	rs_78809001	4 SubmittersRCV000881422 RCV001108370 RCV003920537
NM_002855.5(NECTIN1):c.375G>A (p.Glu125=)	SNV Germline	Chr11:119678470	Conflicting classifications of pathogenicity	Condition: not provided Cleft lip/palate-ectodermal dysplasia syndrome NECTIN1-related disorder	Criteria Provided Conflicting Classifications	CA6322113	rs_146919951	3 SubmittersRCV000892473 RCV001103205 RCV003930824
NM_002855.5(NECTIN1):c.264C>T (p.Ser88=)	SNV Germline	Chr11:119678581	Conflicting classifications of pathogenicity	Condition: not provided Cleft lip/palate-ectodermal dysplasia syndrome NECTIN1-related disorder	Criteria Provided Conflicting Classifications	CA6322140	rs_7131391	3 SubmittersRCV000889697 RCV001103206 RCV003920740
NM_020779.4(WDR35):c.2267+9T>C	SNV Germline	Chr2:19937734	Conflicting classifications of pathogenicity	Short-rib thoracic dysplasia 7 with or without polydactyly Cranioectodermal dysplasia 2 Short-rib thoracic dysplasia 7 with or without polydactyly Cranioectodermal dysplasia 2	Criteria Provided Conflicting Classifications	CA43398627	rs_376307803	2 SubmittersRCV001139216 RCV001139215 RCV005208623
NM_003722.5(TP63):c.84T>G (p.His28Gln)	SNV Germline	Chr3:189737761	Conflicting classifications of pathogenicity	Orofacial cleft 8 Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 TP63-Related Spectrum Disorders 8 conditions	Criteria Provided Conflicting Classifications	CA2752022	rs_370716448	3 SubmittersRCV001144652 RCV001144653 RCV001144654 RCV005029527
NM_002855.5(NECTIN1):c.1548C>T (p.Tyr516=)	SNV Germline	Chr11:119664753	Conflicting classifications of pathogenicity	Condition: not provided Cleft lip/palate-ectodermal dysplasia syndrome NECTIN1-related disorder	Criteria Provided Conflicting Classifications	CA6321765	rs_146113849	4 SubmittersRCV000894962 RCV001105000 RCV003968176
NM_001110219.3(GJB6):c.30C>T (p.Ile10=)	SNV Germline	Chr13:20223451	Conflicting classifications of pathogenicity	Condition: not provided Hidrotic ectodermal dysplasia syndrome Autosomal recessive nonsyndromic hearing loss 1A Autosomal dominant nonsyndromic hearing loss 3B Autosomal recessive nonsyndromic hearing loss 1B Hidrotic ectodermal dysplasia syndrome	Criteria Provided Conflicting Classifications	CA6904524	rs_377181573	3 SubmittersRCV000897879 RCV001112812 RCV002065645
NM_003722.5(TP63):c.992+9C>T	SNV Germline	Chr3:189867951	Conflicting classifications of pathogenicity	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 Orofacial cleft 8 TP63-Related Spectrum Disorders	Criteria Provided Conflicting Classifications	CA2752305	rs_369838833	2 SubmittersRCV001147613 RCV001147615 RCV001147614
NM_002855.5(NECTIN1):c.79+4A>G	SNV Germline	Chr11:119728471	Conflicting classifications of pathogenicity	Condition: not provided Cleft lip/palate-ectodermal dysplasia syndrome NECTIN1-related disorder	Criteria Provided Conflicting Classifications	CA6322191	rs_542760632	3 SubmittersRCV000906307 RCV001105116 RCV003977930
NM_020779.4(WDR35):c.761T>C (p.Met254Thr)	SNV Germline	Chr2:19973684	Conflicting classifications of pathogenicity	Short-rib thoracic dysplasia 7 with or without polydactyly Cranioectodermal dysplasia 2 Connective tissue disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA1543437	rs_547986777	3 SubmittersRCV000925439 RCV002279645 RCV005255634
NM_002855.5(NECTIN1):c.618G>A (p.Thr206=)	SNV Germline	Chr11:119677670	Conflicting classifications of pathogenicity	Condition: not provided Cleft lip/palate-ectodermal dysplasia syndrome	Criteria Provided Conflicting Classifications	CA6322044	rs_146567321	2 SubmittersRCV000916266 RCV001108369
NM_002855.5(NECTIN1):c.561T>A (p.Thr187=)	SNV Germline	Chr11:119677727	Conflicting classifications of pathogenicity	Condition: not provided Cleft lip/palate-ectodermal dysplasia syndrome	Criteria Provided Conflicting Classifications	CA6322059	rs_144990451	2 SubmittersRCV000921604 RCV001108372
NM_002855.5(NECTIN1):c.423G>A (p.Thr141=)	SNV Germline	Chr11:119678422	Conflicting classifications of pathogenicity	Condition: not provided Cleft lip/palate-ectodermal dysplasia syndrome	Criteria Provided Conflicting Classifications	CA6322101	rs_142753103	2 SubmittersRCV000925357 RCV001103204
NM_001102564.3(IFT43):c.468C>T (p.Leu156=)	SNV Germline	Chr14:76083250	Conflicting classifications of pathogenicity	Condition: not provided Short-rib thoracic dysplasia 18 with polydactyly Retinitis pigmentosa 81 Cranioectodermal dysplasia 3	Criteria Provided Conflicting Classifications	CA7280914	rs_563086463	2 SubmittersRCV000926281 RCV005004467
NM_002855.5(NECTIN1):c.431-4G>A	SNV Germline	Chr11:119677861	Conflicting classifications of pathogenicity	Condition: not provided Cleft lip/palate-ectodermal dysplasia syndrome	Criteria Provided Conflicting Classifications	CA6322079	rs_375284374	2 SubmittersRCV000923522 RCV001103201
NM_052989.3(IFT122):c.1139A>G (p.Glu380Gly)	SNV Germline	Chr3:129476793	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2606074	rs_755060067	2 SubmittersRCV001435452 RCV002542259
NM_002855.5(NECTIN1):c.565T>C (p.Leu189=)	SNV Germline	Chr11:119677723	Conflicting classifications of pathogenicity	Condition: not provided Cleft lip/palate-ectodermal dysplasia syndrome	Criteria Provided Conflicting Classifications	CA6322055	rs_140389200	2 SubmittersRCV000927966 RCV001108371
NM_025132.4(WDR19):c.1775A>G (p.Gln592Arg)	SNV Germline	Chr4:39228355	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Cranioectodermal dysplasia 4	Criteria Provided Conflicting Classifications	CA2891921	rs_190192706	2 SubmittersRCV000981651 RCV001146290 RCV001146291
NM_002855.5(NECTIN1):c.431-5C>T	SNV Germline	Chr11:119677862	Conflicting classifications of pathogenicity	Condition: not provided Cleft lip/palate-ectodermal dysplasia syndrome	Criteria Provided Conflicting Classifications	CA6322081	rs_559278757	2 SubmittersRCV000976156 RCV001103202
NM_001664.4(RHOA):c.211C>T (p.Pro71Ser)	SNV Somatic	Chr3:49368494	Pathogenic	Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies	No Assertion Criteria Provided	CA352786720	rs_1575647025	1 SubmittersRCV002221594
NM_025132.4(WDR19):c.1250-1G>A	SNV Germline	Chr4:39217133	Pathogenic/Likely pathogenic	Asphyxiating thoracic dystrophy 5 Spermatogenic failure 72 Asphyxiating thoracic dystrophy 5 Nephronophthisis 13 Cranioectodermal dysplasia 4 Senior-Loken syndrome 8	Criteria Provided Multiple Submitters No Conflicts	CA356630606	rs_1327583103	2 SubmittersRCV000987439 RCV005036256
NM_002742.3(PRKD1):c.1316G>A (p.Arg439Gln)	SNV Unknown	Chr14:29632945	Likely pathogenic	Congenital heart defects and ectodermal dysplasia	Criteria Provided Single Submitter	CA389335571	rs_1439477100	1 SubmittersRCV000989200
NM_001399.5(EDA):c.1142G>A (p.Gly381Glu)	SNV Unknown	ChrX:70035575	Likely pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Single Submitter	CA413450468	rs_1602625000	1 SubmittersRCV000990857
NM_001102564.3(IFT43):c.16G>C (p.Asp6His)	SNV Germline	Chr14:75985802	Conflicting classifications of pathogenicity	Condition: not provided Connective tissue disorder Cranioectodermal dysplasia 3 Short-rib thoracic dysplasia 18 with polydactyly Retinitis pigmentosa 81 not specified	Criteria Provided Conflicting Classifications	CA7280570	rs_201966792	6 SubmittersRCV000995218 RCV002279688 RCV002481772 RCV004629399
NM_030916.3(NECTIN4):c.229C>T (p.Gln77Ter)	SNV Germline	Chr1:161079800	Pathogenic	Ectodermal dysplasia-syndactyly syndrome 1	Criteria Provided Single Submitter	CA343357734	rs_1571153052	1 SubmittersRCV000995848
NM_022336.4(EDAR):c.93C>A (p.Cys31Ter)	SNV Germline	Chr2:108930201	Pathogenic	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	No Assertion Criteria Provided	CA348116108	rs_749688157	1 SubmittersRCV001027975
NM_145861.4(EDARADD):c.392C>T (p.Pro131Leu)	SNV Germline	Chr1:236482393	Conflicting classifications of pathogenicity	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive Condition: not provided	Criteria Provided Conflicting Classifications	CA39702020	rs_1005957166	2 SubmittersRCV001045968 RCV002284457
NM_022336.4(EDAR):c.1214G>C (p.Gly405Ala)	SNV Germline	Chr2:108897040	Pathogenic	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	Criteria Provided Single Submitter	CA348047951	rs_1696610594	1 SubmittersRCV001058350
NM_022336.4(EDAR):c.973C>T (p.Arg325Trp)	SNV Germline	Chr2:108906359	Likely pathogenic	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	Criteria Provided Single Submitter	CA1824863	rs_755654853	1 SubmittersRCV001050481
NM_020779.4(WDR35):c.2936G>A (p.Arg979Gln)	SNV Germline	Chr2:19931297	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia 2 Short-rib thoracic dysplasia 7 with or without polydactyly Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1542800	rs_138076014	3 SubmittersRCV001039598 RCV002051911 RCV002551451
NM_025132.4(WDR19):c.2362G>A (p.Ala788Thr)	SNV Germline	Chr4:39234874	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Inborn genetic diseases Spermatogenic failure 72 Nephronophthisis 13 Asphyxiating thoracic dystrophy 5 Cranioectodermal dysplasia 4 Senior-Loken syndrome 8	Criteria Provided Conflicting Classifications	CA2892057	rs_768082694	3 SubmittersRCV001060443 RCV004678937 RCV005036360
NM_020529.3(NFKBIA):c.179C>T (p.Pro60Leu)	SNV Germline	Chr14:35404466	Conflicting classifications of pathogenicity	Ectodermal dysplasia and immunodeficiency 2	Criteria Provided Conflicting Classifications	CA7155585	rs_371482940	2 SubmittersRCV001043181
NM_001102564.3(IFT43):c.395A>T (p.Tyr132Phe)	SNV Germline	Chr14:76082643	Conflicting classifications of pathogenicity	Condition: not provided Cranioectodermal dysplasia 3 Short-rib thoracic dysplasia 18 with polydactyly Retinitis pigmentosa 81 not specified	Criteria Provided Conflicting Classifications	CA7280880	rs_201692401	4 SubmittersRCV001053275 RCV002479324 RCV004031679
NM_001399.5(EDA):c.608C>T (p.Pro203Leu)	SNV Germline	ChrX:70027938	Likely pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Single Submitter	CA413448340	rs_2020138975	1 SubmittersRCV001053348
NM_001399.5(EDA):c.610G>A (p.Gly204Arg)	SNV Germline	ChrX:70027940	Pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Single Submitter	CA413448342	rs_2020139065	1 SubmittersRCV001070620
NM_001399.5(EDA):c.1116C>G (p.Asn372Lys)	SNV Germline	ChrX:70035549	Pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Single Submitter	CA413450342	rs_2020255486	2 SubmittersRCV001040957
NM_025132.4(WDR19):c.961+2T>C	SNV Germline	Chr4:39214673	Likely pathogenic	Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Spermatogenic failure 72 Asphyxiating thoracic dystrophy 5 Nephronophthisis 13 Cranioectodermal dysplasia 4 Senior-Loken syndrome 8	Criteria Provided Multiple Submitters No Conflicts	CA356636295	rs_1728876351	2 SubmittersRCV001043448 RCV002481903
NM_002855.5(NECTIN1):c.*2751G>A	SNV Germline	Chr11:119661996	Conflicting classifications of pathogenicity	Cleft lip/palate-ectodermal dysplasia syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA229719450	rs_368910346	3 SubmittersRCV001102891 RCV003425922
NM_002855.5(NECTIN1):c.1520G>A (p.Gly507Glu)	SNV Germline	Chr11:119664781	Conflicting classifications of pathogenicity	Cleft lip/palate-ectodermal dysplasia syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA6321768	rs_202095358	2 SubmittersRCV001105001 RCV003117755
NM_002855.5(NECTIN1):c.1194C>T (p.Asn398=)	SNV Germline	Chr11:119665107	Conflicting classifications of pathogenicity	Cleft lip/palate-ectodermal dysplasia syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA6321839	rs_188936128	2 SubmittersRCV001106159 RCV005056891
NM_002855.5(NECTIN1):c.1182C>T (p.His394=)	SNV Germline	Chr11:119665119	Conflicting classifications of pathogenicity	Cleft lip/palate-ectodermal dysplasia syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA6321842	rs_761931104	2 SubmittersRCV001106160 RCV003106116
NM_002855.5(NECTIN1):c.635G>A (p.Arg212His)	SNV Germline	Chr11:119677653	Conflicting classifications of pathogenicity	Cleft lip/palate-ectodermal dysplasia syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA6322039	rs_142930935	2 SubmittersRCV001108367 RCV001470587
NM_002855.5(NECTIN1):c.629G>A (p.Arg210His)	SNV Germline	Chr11:119677659	Conflicting classifications of pathogenicity	Cleft lip/palate-ectodermal dysplasia syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA6322042	rs_142863092	2 SubmittersRCV001108368 RCV002556120
NM_002855.5(NECTIN1):c.480G>A (p.Lys160=)	SNV Germline	Chr11:119677808	Conflicting classifications of pathogenicity	Cleft lip/palate-ectodermal dysplasia syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA6322070	rs_145986556	3 SubmittersRCV001103199 RCV002555007
NM_001110219.3(GJB6):c.212T>C (p.Val71Ala)	SNV Germline	Chr13:20223269	Conflicting classifications of pathogenicity	Hidrotic ectodermal dysplasia syndrome Condition: not provided Autosomal dominant nonsyndromic hearing loss 3B Autosomal recessive nonsyndromic hearing loss 1A Hidrotic ectodermal dysplasia syndrome Autosomal recessive nonsyndromic hearing loss 1B	Criteria Provided Conflicting Classifications	CA6904492	rs_200172266	5 SubmittersRCV001110826 RCV001563386 RCV001862881
NM_020779.4(WDR35):c.3136G>C (p.Asp1046His)	SNV Germline	Chr2:19914263	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia 2 Short-rib thoracic dysplasia 7 with or without polydactyly Cranioectodermal dysplasia 2 Short-rib thoracic dysplasia 7 with or without polydactyly	Criteria Provided Conflicting Classifications	CA1542730	rs_200760434	2 SubmittersRCV001143423 RCV001143422 RCV002557054
NM_020779.4(WDR35):c.1260A>G (p.Pro420=)	SNV Germline	Chr2:19953974	Conflicting classifications of pathogenicity	Short-rib thoracic dysplasia 7 with or without polydactyly Cranioectodermal dysplasia 2 WDR35-related disorder Cranioectodermal dysplasia 2 Short-rib thoracic dysplasia 7 with or without polydactyly	Criteria Provided Conflicting Classifications	CA1543272	rs_573958749	3 SubmittersRCV001141932 RCV001141931 RCV004545080 RCV001415310
NM_020779.4(WDR35):c.507A>G (p.Lys169=)	SNV Germline	Chr2:19975593	Conflicting classifications of pathogenicity	Short-rib thoracic dysplasia 7 with or without polydactyly Cranioectodermal dysplasia 2 Cranioectodermal dysplasia 2 Short-rib thoracic dysplasia 7 with or without polydactyly	Criteria Provided Conflicting Classifications	CA1543503	rs_200495720	2 SubmittersRCV001142048 RCV001142049 RCV001512911
NM_020779.4(WDR35):c.273A>G (p.Glu91=)	SNV Germline	Chr2:19980725	Conflicting classifications of pathogenicity	Short-rib thoracic dysplasia 7 with or without polydactyly Cranioectodermal dysplasia 2 Cranioectodermal dysplasia 2 Short-rib thoracic dysplasia 7 with or without polydactyly WDR35-related disorder	Criteria Provided Conflicting Classifications	CA425134125	rs_1558360162	3 SubmittersRCV001137291 RCV001137292 RCV005213467 RCV004538358
NM_020779.4(WDR35):c.437-13T>C	SNV Germline	Chr2:19975676	Conflicting classifications of pathogenicity	Short-rib thoracic dysplasia 7 with or without polydactyly Cranioectodermal dysplasia 2 Condition: not provided Cranioectodermal dysplasia 2 Short-rib thoracic dysplasia 7 with or without polydactyly	Criteria Provided Conflicting Classifications	CA1543523	rs_367802842	3 SubmittersRCV001137289 RCV001137290 RCV001586000 RCV002070604
NM_052989.3(IFT122):c.273-260T>C	SNV Germline	Chr3:129460968	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia 1	Criteria Provided Conflicting Classifications	CA2605804	rs_369997431	2 SubmittersRCV001149545
NM_052989.3(IFT122):c.876C>T (p.Gly292=)	SNV Germline	Chr3:129476374	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia 1	Criteria Provided Conflicting Classifications	CA2606018	rs_768782991	3 SubmittersRCV001145258
NM_052989.3(IFT122):c.2643C>T (p.Ala881=)	SNV Germline	Chr3:129504414	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia 1	Criteria Provided Conflicting Classifications	CA2606595	rs_150055466	2 SubmittersRCV001149766
NM_003722.5(TP63):c.210G>C (p.Gln70His)	SNV Germline	Chr3:189738660	Conflicting classifications of pathogenicity	Orofacial cleft 8 Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 TP63-Related Spectrum Disorders 8 conditions	Criteria Provided Conflicting Classifications	CA2752059	rs_201631366	3 SubmittersRCV001144656 RCV001144655 RCV001144657 RCV005029719
NM_003722.5(TP63):c.387G>A (p.Ser129=)	SNV Germline	Chr3:189808334	Conflicting classifications of pathogenicity	Orofacial cleft 8 TP63-Related Spectrum Disorders Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3	Criteria Provided Conflicting Classifications	CA2752124	rs_151335217	2 SubmittersRCV001146603 RCV001146605 RCV001146604
NM_003722.5(TP63):c.688G>C (p.Val230Leu)	SNV Germline	Chr3:189864340	Conflicting classifications of pathogenicity	Orofacial cleft 8 TP63-Related Spectrum Disorders Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA2752227	rs_201466089	3 SubmittersRCV001150859 RCV001150860 RCV001150861 RCV001354747
NM_003722.5(TP63):c.1404A>G (p.Lys468=)	SNV Germline	Chr3:189886448	Conflicting classifications of pathogenicity	Orofacial cleft 8 TP63-Related Spectrum Disorders Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 TP63-related disorder	Criteria Provided Conflicting Classifications	CA2752480	rs_753627633	3 SubmittersRCV001147616 RCV001147617 RCV001150947 RCV003945870
NM_003722.5(TP63):c.1465G>A (p.Ala489Thr)	SNV Germline	Chr3:189886509	Conflicting classifications of pathogenicity	Orofacial cleft 8 Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 TP63-Related Spectrum Disorders	Criteria Provided Conflicting Classifications	CA2752489	rs_138832017	2 SubmittersRCV001150949 RCV001150948 RCV001150950
NM_003722.5(TP63):c.1761G>A (p.Leu587=)	SNV Germline	Chr3:189894220	Conflicting classifications of pathogenicity	TP63-Related Spectrum Disorders Orofacial cleft 8 Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3	Criteria Provided Conflicting Classifications	CA2752572	rs_573105911	2 SubmittersRCV001146824 RCV001146825 RCV001147713
NM_003722.5(TP63):c.1877T>G (p.Val626Gly)	SNV Germline	Chr3:189894336	Conflicting classifications of pathogenicity	Orofacial cleft 8 TP63-Related Spectrum Disorders Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2752590	rs_372318389	3 SubmittersRCV001147718 RCV001147719 RCV001147717 RCV002557162
NM_025132.4(WDR19):c.822T>C (p.His274=)	SNV Germline	Chr4:39205668	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 5 Cranioectodermal dysplasia 4 Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8	Criteria Provided Conflicting Classifications	CA2891713	rs_750215526	2 SubmittersRCV001144283 RCV001144284 RCV002070740
NM_025132.4(WDR19):c.1960G>A (p.Ala654Thr)	SNV Germline	Chr4:39228668	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 5 Cranioectodermal dysplasia 4 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA95674417	rs_1024499799	2 SubmittersRCV001149088 RCV001149089 RCV004032772
NM_025132.4(WDR19):c.2386G>A (p.Ala796Thr)	SNV Germline	Chr4:39240299	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia 4 Asphyxiating thoracic dystrophy 5 Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Condition: not provided WDR19-related disorder	Criteria Provided Conflicting Classifications	CA2892070	rs_187332731	5 SubmittersRCV001144508 RCV001144507 RCV001437182 RCV003142079 RCV004538367
NM_025132.4(WDR19):c.3042C>T (p.Ala1014=)	SNV Germline	Chr4:39255888	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 5 Cranioectodermal dysplasia 4 Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8	Criteria Provided Conflicting Classifications	CA2892249	rs_761990492	2 SubmittersRCV001150719 RCV001150720 RCV002557249
NM_025132.4(WDR19):c.3483+11T>C	SNV Germline	Chr4:39270111	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 5 Cranioectodermal dysplasia 4 Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8	Criteria Provided Conflicting Classifications	CA2892381	rs_766475725	2 SubmittersRCV001149320 RCV001149321 RCV001402985
NM_025132.4(WDR19):c.3484-15T>C	SNV Germline	Chr4:39272965	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia 4 Asphyxiating thoracic dystrophy 5 Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8	Criteria Provided Conflicting Classifications	CA2892396	rs_376870184	2 SubmittersRCV001149322 RCV001149323 RCV002070811
NM_001099857.5(IKBKG):c.1117+1G>A	SNV Germline	ChrX:154564021	Pathogenic	ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1, MALE-RESTRICTED Incontinentia pigmenti syndrome	No Assertion Criteria Provided	CA415218958	rs_2071161458	1 SubmittersRCV001172484 RCV001172485
NM_022336.4(EDAR):c.1208C>T (p.Thr403Met)	SNV Germline	Chr2:108897046	Pathogenic	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Criteria Provided Single Submitter	CA348047975	rs_1696610832	1 SubmittersRCV001223855
NM_052989.3(IFT122):c.3031G>C (p.Ala1011Pro)	SNV Germline	Chr3:129514432	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA2606760	rs_199622112	4 SubmittersRCV001219619 RCV003233996
NM_022336.4(EDAR):c.1214G>A (p.Gly405Asp)	SNV Germline	Chr2:108897040	Pathogenic	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	Criteria Provided Single Submitter	CA348047953	rs_1696610594	1 SubmittersRCV002240938
NM_022336.4(EDAR):c.979A>T (p.Lys327Ter)	SNV Germline	Chr2:108906353	Pathogenic	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Criteria Provided Single Submitter	CA348050516	rs_1696805876	1 SubmittersRCV001227034
NM_001399.5(EDA):c.134G>A (p.Gly45Asp)	SNV Germline	ChrX:69616442	Pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Single Submitter	CA413447147	rs_1931938364	1 SubmittersRCV001230087
NM_001399.5(EDA):c.1176G>C (p.Ter392Tyr)	SNV Germline	ChrX:70035609	Conflicting classifications of pathogenicity	Hypohidrotic X-linked ectodermal dysplasia Condition: not provided	Criteria Provided Conflicting Classifications	CA413450595	rs_2020256932	2 SubmittersRCV001237730 RCV003145458
NM_022336.4(EDAR):c.287T>C (p.Phe96Ser)	SNV Germline	Chr2:108929267	Likely pathogenic	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	Criteria Provided Single Submitter	CA348115678	rs_1697319420	1 SubmittersRCV001271097
NM_052989.3(IFT122):c.896G>A (p.Gly299Asp)	SNV Germline	Chr3:129476394	Likely pathogenic	Cranioectodermal dysplasia 1	Criteria Provided Single Submitter	CA354472559	rs_2077955754	1 SubmittersRCV001281142
NM_052989.3(IFT122):c.1532T>C (p.Leu511Pro)	SNV Germline	Chr3:129481573	Likely pathogenic	Cranioectodermal dysplasia 1	Criteria Provided Single Submitter	CA2606214	rs_372355939	1 SubmittersRCV001281141
NM_052989.3(IFT122):c.172T>C (p.Cys58Arg)	SNV Germline	Chr3:129451977	Likely pathogenic	Cranioectodermal dysplasia 1	Criteria Provided Single Submitter	CA354469411	rs_2074912574	1 SubmittersRCV001261959
NM_002855.5(NECTIN1):c.472C>T (p.Arg158Ter)	SNV Germline	Chr11:119677816	Likely pathogenic	Cleft lip/palate-ectodermal dysplasia syndrome	No Assertion Criteria Provided	CA383282221	rs_2135551778	1 SubmittersRCV001376126
NM_144991.3(TSPEAR):c.1281G>A (p.Trp427Ter)	SNV Germline	Chr21:44525708	Pathogenic	Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis Condition: not provided	Criteria Provided Single Submitter	CA10056651	rs_782552484	2 SubmittersRCV001376117 RCV001823188
NM_022336.4(EDAR):c.77C>T (p.Ala26Val)	SNV Germline	Chr2:108930217	Pathogenic/Likely pathogenic	Inborn genetic diseases Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA1825218	rs_550414401	2 SubmittersRCV001265982 RCV005360006
NM_001110219.3(GJB6):c.148G>C (p.Asp50His)	SNV Germline	Chr13:20223333	Likely pathogenic	Inborn genetic diseases Hidrotic ectodermal dysplasia syndrome	Criteria Provided Multiple Submitters No Conflicts	CA387468745	rs_1869351345	2 SubmittersRCV001267508 RCV003985842
NM_022336.4(EDAR):c.338G>A (p.Cys113Tyr)	SNV Germline	Chr2:108929216	Pathogenic	Oligodontia Ectodermal dysplasia	No Assertion Criteria Provided	CA348115572	rs_1475705727	2 SubmittersRCV001267873 RCV001729830
NM_030916.3(NECTIN4):c.880C>T (p.Arg294Ter)	SNV Germline	Chr1:161074731	Pathogenic	Ectodermal dysplasia-syndactyly syndrome 1	Criteria Provided Single Submitter	CA343351541	rs_1653335301	1 SubmittersRCV001291629
NM_145861.4(EDARADD):c.85G>A (p.Glu29Lys)	SNV Germline	Chr1:236409239	Pathogenic	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive	Criteria Provided Single Submitter	CA345653379	rs_1657345576	1 SubmittersRCV001291625
NM_145861.4(EDARADD):c.570C>A (p.Asp190Glu)	SNV Germline	Chr1:236482571	Pathogenic	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive	Criteria Provided Single Submitter	CA345355146	rs_200017138	1 SubmittersRCV001291626
NM_001399.5(EDA):c.620G>A (p.Gly207Glu)	SNV Germline	ChrX:70027950	Pathogenic/Likely pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Multiple Submitters No Conflicts	CA413448363	rs_2020139491	2 SubmittersRCV001291628
NM_022336.4(EDAR):c.442T>C (p.Cys148Arg)	SNV Germline	Chr2:108923368	Likely pathogenic	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA348115263	rs_1181378221	2 SubmittersRCV001293769
NM_025132.4(WDR19):c.2464A>G (p.Ile822Val)	SNV Germline	Chr4:39244290	Conflicting classifications of pathogenicity	Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Nephronophthisis 13 Cranioectodermal dysplasia 4 Spermatogenic failure 72	Criteria Provided Conflicting Classifications	CA2892088	rs_138364911	2 SubmittersRCV001313901 RCV002476453
NM_001399.5(EDA):c.1152G>T (p.Arg384Ser)	SNV Germline	ChrX:70035585	Likely pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Single Submitter	CA413450503	rs_2020256386	1 SubmittersRCV001314954
NM_144991.3(TSPEAR):c.789T>G (p.Tyr263Ter)	SNV Germline	Chr21:44529799	Pathogenic	Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis Condition: not provided Tooth agenesis, selective, 10	Criteria Provided Multiple Submitters No Conflicts	CA321816127	rs_966162330	3 SubmittersRCV001331741 RCV002546503 RCV003989682
NM_025132.4(WDR19):c.3184-2A>C	SNV Germline	Chr4:39266061	Pathogenic/Likely pathogenic	Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Renal dysplasia and retinal aplasia Cranioectodermal dysplasia 4 Asphyxiating thoracic dystrophy 5 Nephronophthisis 13 Senior-Loken syndrome 8 Spermatogenic failure 72 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA95698821	rs_1020915921	4 SubmittersRCV001970776 RCV003324579 RCV005032046 RCV004820226
NM_020529.3(NFKBIA):c.337-20G>A	SNV Germline	Chr14:35403380	Conflicting classifications of pathogenicity	Ectodermal dysplasia and immunodeficiency 2	Criteria Provided Conflicting Classifications	CA7155490	rs_371120371	2 SubmittersRCV001335974
NM_022336.4(EDAR):c.1213G>C (p.Gly405Arg)	SNV Germline	Chr2:108897041	Likely pathogenic	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Criteria Provided Single Submitter	CA348047957	rs_1696610650	1 SubmittersRCV001337468
NM_022336.4(EDAR):c.986T>G (p.Ile329Ser)	SNV Germline	Chr2:108906346	Likely pathogenic	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	Criteria Provided Single Submitter	CA348050485	rs_1696805635	1 SubmittersRCV001346616
NM_001399.5(EDA):c.924+8C>A	SNV Germline	ChrX:70033536	Conflicting classifications of pathogenicity	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Conflicting Classifications	CA923726191	rs_370406516	3 SubmittersRCV001370663
NM_022336.4(EDAR):c.964-1G>A	SNV Germline	Chr2:108906369	Pathogenic	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	Criteria Provided Single Submitter	CA348050609	rs_2105390253	1 SubmittersRCV001389203
NM_020779.4(WDR35):c.1690C>T (p.Arg564Ter)	SNV Germline	Chr2:19945941	Pathogenic/Likely pathogenic	Cranioectodermal dysplasia 2 Short-rib thoracic dysplasia 7 with or without polydactyly Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA1543133	rs_367810877	3 SubmittersRCV001389261 RCV002267113
NM_001399.5(EDA):c.1A>G (p.Met1Val)	SNV Germline	ChrX:69616309	Pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Single Submitter	CA413446827	rs_2147196982	1 SubmittersRCV001383222
NM_001399.5(EDA):c.223G>T (p.Glu75Ter)	SNV Germline	ChrX:69616531	Pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Single Submitter	CA413447322	rs_2147197866	1 SubmittersRCV001389869
NM_001399.5(EDA):c.632C>G (p.Thr211Arg)	SNV Germline	ChrX:70027962	Pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Single Submitter	CA413448388	rs_2147509853	1 SubmittersRCV001383224
NM_001399.5(EDA):c.643G>T (p.Gly215Ter)	SNV Germline	ChrX:70027973	Pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Single Submitter	CA413448412	rs_2147509886	1 SubmittersRCV001383223
NM_001399.5(EDA):c.801A>G (p.Ser267=)	SNV Germline	ChrX:70033405	Pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Single Submitter	CA413448771	rs_2147516275	1 SubmittersRCV001383225
NM_001399.5(EDA):c.1009G>T (p.Glu337Ter)	SNV Germline	ChrX:70035442	Pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Single Submitter	CA413449810	rs_191378148	1 SubmittersRCV001385708
NM_001399.5(EDA):c.1067C>A (p.Ala356Asp)	SNV Germline	ChrX:70035500	Pathogenic/Likely pathogenic	Condition: not provided Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Multiple Submitters No Conflicts	CA413450130	rs_876657639	2 SubmittersRCV003313222 RCV001385709
NM_001102564.3(IFT43):c.201C>T (p.Ser67=)	SNV Germline	Chr14:76022380	Conflicting classifications of pathogenicity	Condition: not provided Connective tissue disorder Short-rib thoracic dysplasia 18 with polydactyly Retinitis pigmentosa 81 Cranioectodermal dysplasia 3	Criteria Provided Conflicting Classifications	CA7280690	rs_140127543	4 SubmittersRCV001408271 RCV002276728 RCV002504682
NM_001664.4(RHOA):c.208A>G (p.Arg70Gly)	SNV Somatic	Chr3:49368497	Likely pathogenic	Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies	Criteria Provided Single Submitter	CA352786737	rs_1333410252	1 SubmittersRCV001526566
NM_052989.3(IFT122):c.272+1G>A	SNV Germline	Chr3:129458678	Likely pathogenic	Cranioectodermal dysplasia 1	Criteria Provided Multiple Submitters No Conflicts	CA2605756	rs_372483083	2 SubmittersRCV001535931
NM_001399.5(EDA):c.602G>A (p.Gly201Glu)	SNV Germline	ChrX:70027932	Pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Single Submitter	CA413448327	rs_2147509771	1 SubmittersRCV001543630
NM_001399.5(EDA):c.628G>A (p.Gly210Arg)	SNV Germline	ChrX:70027958	Pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Single Submitter	CA413448378	rs_1556098733	1 SubmittersRCV001543631
NM_001399.5(EDA):c.707-2A>T	SNV Germline	ChrX:70029502	Pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Single Submitter	CA413448546	rs_2147511696	1 SubmittersRCV001543632
NM_144991.3(TSPEAR):c.1877T>C (p.Phe626Ser)	SNV Germline	Chr21:44499916	Conflicting classifications of pathogenicity	Condition: not provided Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis Tooth agenesis, selective, 10 TSPEAR-related disorder Autosomal recessive nonsyndromic hearing loss 98 Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis Tooth agenesis, selective, 10	Criteria Provided Conflicting Classifications	CA10056275	rs_369010851	6 SubmittersRCV001561019 RCV004783975 RCV002472331 RCV003416393 RCV005361665
NM_001399.5(EDA):c.800C>G (p.Ser267Ter)	SNV Germline	ChrX:70033404	Pathogenic/Likely pathogenic	Condition: not provided Hypohidrotic X-linked ectodermal dysplasia Tooth agenesis, selective, X-linked, 1	Criteria Provided Multiple Submitters No Conflicts	CA413448768	rs_2147516267	2 SubmittersRCV001576911 RCV005040327
NM_025132.4(WDR19):c.2485C>T (p.Arg829Ter)	SNV Germline	Chr4:39244311	Pathogenic/Likely pathogenic	Cone dystrophy Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Nephronophthisis 13 Cranioectodermal dysplasia 4 Spermatogenic failure 72 Senior-Loken syndrome 8	Criteria Provided Multiple Submitters No Conflicts	CA356637373	rs_775181779	3 SubmittersRCV001591895 RCV002571163 RCV002501946
NM_001399.5(EDA):c.707-13T>G	SNV Germline	ChrX:70029491	Pathogenic	Condition: not provided Hypohidrotic X-linked ectodermal dysplasia EDA-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA2499226814	rs_2147511678	3 SubmittersRCV001590523 RCV001866231 RCV003399399
NM_001399.5(EDA):c.1136T>C (p.Phe379Ser)	SNV Germline	ChrX:70035569	Pathogenic	Hypohidrotic X-linked ectodermal dysplasia	No Assertion Criteria Provided	CA413450437	rs_2147519384	1 SubmittersRCV001843310
NM_020779.4(WDR35):c.883-12T>G	SNV Germline	Chr2:19969617	Conflicting classifications of pathogenicity	Condition: not provided Cranioectodermal dysplasia 2 Short-rib thoracic dysplasia 7 with or without polydactyly	Criteria Provided Conflicting Classifications	CA530856566	rs_1393592663	2 SubmittersRCV001765703 RCV003771991
NM_020779.4(WDR35):c.1744C>T (p.Arg582Ter)	SNV Germline	Chr2:19945887	Likely pathogenic	Short-rib thoracic dysplasia 7 with or without polydactyly Cranioectodermal dysplasia 2	Criteria Provided Single Submitter		rs_778613849	1 SubmittersRCV005030715
NM_001102564.3(IFT43):c.328C>T (p.Gln110Ter)	SNV Germline	Chr14:76082327	Pathogenic/Likely pathogenic	Condition: not provided Short-rib thoracic dysplasia 18 with polydactyly Retinitis pigmentosa 81 Cranioectodermal dysplasia 3	Criteria Provided Multiple Submitters No Conflicts	CA7280842	rs_201794999	4 SubmittersRCV001795715 RCV005005286
NM_052989.3(IFT122):c.3726A>G (p.Ter1242Trp)	SNV Germline	Chr3:129520265	Pathogenic	Cranioectodermal dysplasia 1	No Assertion Criteria Provided	CA354493249	rs_2108740086	1 SubmittersRCV001797987
NM_001399.5(EDA):c.1174T>C (p.Ter392Gln)	SNV Germline	ChrX:70035607	Likely pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Single Submitter	CA413450586	rs_2147519482	1 SubmittersRCV001807899
NM_145861.4(EDARADD):c.359A>C (p.Asp120Ala)	SNV Germline	Chr1:236482360	Likely pathogenic	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant	Criteria Provided Single Submitter	CA345353658	rs_2103042605	1 SubmittersRCV001807985
NM_003722.5(TP63):c.802G>A (p.Glu268Lys)	SNV Germline	Chr3:189866717	Conflicting classifications of pathogenicity	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 ADULT syndrome Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3	Criteria Provided Conflicting Classifications	CA355754434	rs_2108801803	2 SubmittersRCV001808011 RCV003154197
NM_001399.5(EDA):c.798T>C (p.Leu266=)	SNV Germline	ChrX:70033402	Conflicting classifications of pathogenicity	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Conflicting Classifications	CA517013818	rs_2147516257	2 SubmittersRCV001814652
NM_003722.5(TP63):c.1012C>T (p.Arg338Cys)	SNV Germline	Chr3:189868599	Likely pathogenic	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3	No Assertion Criteria Provided	CA355755128	rs_1404019220	1 SubmittersRCV001849646
NM_052989.3(IFT122):c.2668C>T (p.Arg890Ter)	SNV Germline	Chr3:129506426	Pathogenic	Cranioectodermal dysplasia 1	Criteria Provided Single Submitter	CA82628447	rs_1039467525	1 SubmittersRCV001867450
NM_001399.5(EDA):c.924+1G>A	SNV Germline	ChrX:70033529	Pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Single Submitter	CA413449079	rs_2147516572	1 SubmittersRCV001942878
NM_052989.3(IFT122):c.986C>T (p.Ala329Val)	SNV Germline	Chr3:129476484	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA2606035	rs_200915373	3 SubmittersRCV002048099 RCV004694129
NM_001399.5(EDA):c.163C>G (p.Leu55Val)	SNV Germline	ChrX:69616471	Likely pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Single Submitter	CA413447206	rs_1602221926	1 SubmittersRCV001990370
NM_001399.5(EDA):c.935T>C (p.Ile312Thr)	SNV Germline	ChrX:70035368	Likely pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Single Submitter	CA413449290	rs_1791938725	1 SubmittersRCV002030805
NM_001399.5(EDA):c.526+1G>A	SNV Germline	ChrX:70023242	Pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Single Submitter	CA413448160	rs_2147503858	1 SubmittersRCV001872188
NM_020779.4(WDR35):c.2415-2A>G	SNV Germline	Chr2:19935605	Likely pathogenic	Cranioectodermal dysplasia 2 Short-rib thoracic dysplasia 7 with or without polydactyly Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA1542944	rs_143550695	3 SubmittersRCV002034331 RCV004763322
NM_001399.5(EDA):c.1045G>T (p.Ala349Ser)	SNV Germline	ChrX:70035478	Likely pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Single Submitter	CA330952728	rs_132630317	1 SubmittersRCV001964125
NM_025132.4(WDR19):c.4014G>A (p.Thr1338=)	SNV Germline	Chr4:39278635	Conflicting classifications of pathogenicity	Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Spermatogenic failure 72 Asphyxiating thoracic dystrophy 5 Nephronophthisis 13 Cranioectodermal dysplasia 4 Senior-Loken syndrome 8	Criteria Provided Conflicting Classifications	CA2892556	rs_763555032	2 SubmittersRCV001910564 RCV002484542
NM_001110219.3(GJB6):c.223C>T (p.Arg75Trp)	SNV Germline	Chr13:20223258	Conflicting classifications of pathogenicity	Autosomal recessive nonsyndromic hearing loss 1A Hidrotic ectodermal dysplasia syndrome Autosomal dominant nonsyndromic hearing loss 3B Autosomal recessive nonsyndromic hearing loss 1B Autosomal dominant nonsyndromic hearing loss 3B	Criteria Provided Conflicting Classifications	CA387468573	rs_2137333664	2 SubmittersRCV002007632 RCV004571869
NM_020779.4(WDR35):c.3349A>G (p.Ser1117Gly)	SNV Germline	Chr2:19914050	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia 2 Short-rib thoracic dysplasia 7 with or without polydactyly Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1542692	rs_369515554	3 SubmittersRCV001903291 RCV004970439
NM_022336.4(EDAR):c.141C>G (p.Cys47Trp)	SNV Germline	Chr2:108930153	Conflicting classifications of pathogenicity	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA348116003	rs_1697337524	2 SubmittersRCV001903357 RCV004720966
NM_020779.4(WDR35):c.136C>T (p.Gln46Ter)	SNV Germline	Chr2:19989171	Pathogenic/Likely pathogenic	Short-rib thoracic dysplasia 7 with or without polydactyly Cranioectodermal dysplasia 2	Criteria Provided Multiple Submitters No Conflicts	CA43393246	rs_767788330	2 SubmittersRCV001972131
NM_052989.3(IFT122):c.1367G>A (p.Cys456Tyr)	SNV Germline	Chr3:129479801	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA354475181	rs_1335391766	3 SubmittersRCV001870767 RCV004728880
NM_020779.4(WDR35):c.1662A>T (p.Gly554=)	SNV Germline	Chr2:19945969	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia 2 Short-rib thoracic dysplasia 7 with or without polydactyly	Criteria Provided Conflicting Classifications	CA1543135	rs_767878828	2 SubmittersRCV001933721
NM_020779.4(WDR35):c.2456A>G (p.Glu819Gly)	SNV Germline	Chr2:19935562	Conflicting classifications of pathogenicity	Short-rib thoracic dysplasia 7 with or without polydactyly Cranioectodermal dysplasia 2 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA1542938	rs_139352103	3 SubmittersRCV001908051 RCV004040562 RCV002469419
NM_001399.5(EDA):c.1093G>A (p.Val365Met)	SNV Germline	ChrX:70035526	Likely pathogenic	Hypohidrotic X-linked ectodermal dysplasia Tooth agenesis, selective, X-linked, 1 Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Multiple Submitters No Conflicts	CA413450241	rs_2147519270	2 SubmittersRCV002497951 RCV002002883
NM_001399.5(EDA):c.473A>G (p.Lys158Arg)	SNV Germline	ChrX:69957103	Likely pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Single Submitter	CA330947483	rs_982209417	1 SubmittersRCV002046618
NM_001399.5(EDA):c.619G>A (p.Gly207Arg)	SNV Germline	ChrX:70027949	Pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Single Submitter	CA413448360	rs_2147509825	1 SubmittersRCV001949391
NM_001399.5(EDA):c.916C>T (p.Gln306Ter)	SNV Germline	ChrX:70033520	Pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Single Submitter	CA413449050	rs_2147516557	1 SubmittersRCV001956142
NM_001399.5(EDA):c.794-1G>A	SNV Germline	ChrX:70033397	Likely pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Single Submitter	CA413448752	rs_2147516240	1 SubmittersRCV002000768
NM_001399.5(EDA):c.896G>A (p.Gly299Asp)	SNV Germline	ChrX:70033500	Pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Single Submitter	CA413448973	rs_2147516523	1 SubmittersRCV001951402
NM_001399.5(EDA):c.659C>T (p.Pro220Leu)	SNV Germline	ChrX:70027989	Pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Single Submitter	CA413448444	rs_2147509932	1 SubmittersRCV001982885
NM_020779.4(WDR35):c.1255+1G>C	SNV Germline	Chr2:19960553	Likely pathogenic	Short-rib thoracic dysplasia 7 with or without polydactyly Cranioectodermal dysplasia 2	Criteria Provided Single Submitter	CA345945775	rs_371669862	1 SubmittersRCV001975584
NM_052989.3(IFT122):c.3586C>T (p.Arg1196Cys)	SNV Germline	Chr3:129519682	Conflicting classifications of pathogenicity	Cranioectodermal dysplasia 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2606969	rs_201590142	3 SubmittersRCV001863461 RCV002545764
NM_001399.5(EDA):c.958T>G (p.Tyr320Asp)	SNV Germline	ChrX:70035391	Likely pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Single Submitter	CA413449452	rs_1416551006	1 SubmittersRCV002010068
NM_001399.5(EDA):c.1048G>T (p.Gly350Cys)	SNV Germline	ChrX:70035481	Likely pathogenic	Hypohidrotic X-linked ectodermal dysplasia	Criteria Provided Single Submitter	CA413450051	rs_2147519167	1 SubmittersRCV002043477
NM_052989.3(IFT122):c.416+2T>G	SNV Germline	Chr3:129463628	Likely pathogenic	Cranioectodermal dysplasia 1	Criteria Provided Single Submitter	CA354472021	rs_2108101855	1 SubmittersRCV002023959
NM_025132.4(WDR19):c.3319C>T (p.Gln1107Ter)	SNV Germline	Chr4:39268052	Pathogenic/Likely pathogenic	Senior-Loken syndrome 8 Asphyxiating thoracic dystrophy 5 Senior-Loken syndrome 8 Spermatogenic failure 72 Asphyxiating thoracic dystrophy 5 Nephronophthisis 13 Cranioectodermal dysplasia 4	Criteria Provided Multiple Submitters No Conflicts	CA356645169	rs_1401145684	2 SubmittersRCV001890451 RCV002503474
NM_022336.4(EDAR):c.1293A>G (p.Ile431Met)	SNV Germline	Chr2:108896961	Likely pathogenic	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	Criteria Provided Single Submitter	CA348047605	rs_1696608635	1 SubmittersRCV001963574

SNV
Germline

Chr2:19989284

Pathogenic

Cranioectodermal dysplasia 2

No Assertion Criteria Provided

CA113807

rs_397515534

1 SubmittersRCV000000037

NM_020779.4(WDR35):c.1844A>G (p.Glu615Gly)

SNV
Germline

Chr2:19945787

Pathogenic

Cranioectodermal dysplasia 2

No Assertion Criteria Provided

CA339780

rs_267607174

2 SubmittersRCV000000038

NM_020779.4(WDR35):c.2590G>A (p.Ala864Thr)

SNV
Germline

Chr2:19933469

Likely pathogenic

Cranioectodermal dysplasia 2
Condition: not provided

Criteria Provided
Single Submitter

CA339782

rs_267607175

2 SubmittersRCV000000040 RCV000508347

NM_030916.3(NECTIN4):c.851G>A (p.Arg284Gln)

SNV
Germline

Chr1:161076355

Pathogenic

Ectodermal dysplasia-syndactyly syndrome 1

No Assertion Criteria Provided

CA115101

rs_267606991

1 SubmittersRCV000001667

NM_030916.3(NECTIN4):c.554C>T (p.Thr185Met)

SNV
Germline

Chr1:161077629

Pathogenic

Ectodermal dysplasia-syndactyly syndrome 1

No Assertion Criteria Provided

CA115103

rs_267606992

1 SubmittersRCV000001668

NM_145861.4(EDARADD):c.454G>A (p.Glu152Lys)

SNV
Germline

Chr1:236482455

Likely pathogenic

Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant

Criteria Provided
Single Submitter

CA019415

rs_74315309

3 SubmittersRCV000004407 RCV001729334 RCV004798715

NM_145861.4(EDARADD):c.365T>G (p.Leu122Arg)

SNV
Germline

Chr1:236482366

Pathogenic

Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant

No Assertion Criteria Provided

CA019395

rs_121908116

2 SubmittersRCV000004408 RCV000055985

NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter)

SNV
Germline

Chr2:218882368

Pathogenic

Odonto-onycho-dermal dysplasia
Schöpf-Schulz-Passarge syndrome
Tooth agenesis, selective, 4
Condition: not provided
Inborn genetic diseases
Tooth agenesis, selective, 4
Schöpf-Schulz-Passarge syndrome
Odonto-onycho-dermal dysplasia
Tooth agenesis, selective, 4
Odonto-onycho-dermal dysplasia
WNT10A-related disorder
Ectodermal dysplasia
not specified

Criteria Provided
Multiple Submitters
No Conflicts

CA116865

rs_121908119

31 SubmittersRCV000004715 RCV000004716 RCV000030650 RCV000255732 RCV000190800 RCV000477935 RCV000536747 RCV000779308 RCV001729335 RCV002247247

NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile)

SNV
Germline

Chr2:218890289

Conflicting classifications of pathogenicity

Odonto-onycho-dermal dysplasia
Tooth agenesis, selective, 4
Tooth agenesis
Condition: not provided
Ectodermal dysplasia
Tooth agenesis, selective, 4
Odonto-onycho-dermal dysplasia
Tooth agenesis, selective, 4
Odonto-onycho-dermal dysplasia
Schöpf-Schulz-Passarge syndrome
Inborn genetic diseases
Tooth agenesis, selective, 4
Schöpf-Schulz-Passarge syndrome
Hypohidrotic ectodermal dysplasia
Ectodermal dysplasia WNT10A related
WNT10A-related disorder
See cases

Criteria Provided
Conflicting Classifications

CA116867

rs_121908120

34 SubmittersRCV000004717 RCV000445356 RCV000845113 RCV000255788 RCV001729336 RCV000550721 RCV001535660 RCV000622932 RCV001813948 RCV000754840 RCV005249981 RCV004528071 RCV004584315

NM_052989.3(IFT122):c.1505T>G (p.Val502Gly)

SNV
Germline

Chr3:129481546

Pathogenic

Cranioectodermal dysplasia 1

No Assertion Criteria Provided

CA340274

rs_267607191

2 SubmittersRCV000004898

NM_052989.3(IFT122):c.965C>T (p.Ser322Phe)

SNV
Germline

Chr3:129476463

Likely pathogenic

Cranioectodermal dysplasia 1

Criteria Provided
Single Submitter

CA340276

rs_267607192

3 SubmittersRCV000004899

NM_052989.3(IFT122):c.21G>C (p.Trp7Cys)

SNV
Germline

Chr3:129440351

Pathogenic

Cranioectodermal dysplasia 1

No Assertion Criteria Provided

CA340279

rs_267607193

2 SubmittersRCV000004901

NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg)

SNV
Germline

Chr13:20223450

Pathogenic

Hidrotic ectodermal dysplasia syndrome
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 3B
Hidrotic ectodermal dysplasia syndrome
Autosomal recessive nonsyndromic hearing loss 1B
Autosomal recessive nonsyndromic hearing loss 1A
GJB6-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA253526

rs_104894415

11 SubmittersRCV000005882 RCV000255581 RCV000645727 RCV003335016

NM_001110219.3(GJB6):c.263C>T (p.Ala88Val)

SNV
Germline

Chr13:20223218

Pathogenic

Hidrotic ectodermal dysplasia syndrome
Hidrotic ectodermal dysplasia syndrome
Autosomal recessive nonsyndromic hearing loss 1B
Autosomal dominant nonsyndromic hearing loss 3B
Autosomal recessive nonsyndromic hearing loss 1A
Hidrotic ectodermal dysplasia syndrome
Autosomal recessive nonsyndromic hearing loss 1B
Autosomal dominant nonsyndromic hearing loss 3B
X-linked mixed hearing loss with perilymphatic gusher
Autosomal recessive nonsyndromic hearing loss 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA253528

rs_28937872

4 SubmittersRCV000005883 RCV000798432 RCV002504751

NM_001110219.3(GJB6):c.110T>A (p.Val37Glu)

SNV
Germline

Chr13:20223371

Pathogenic

Hidrotic ectodermal dysplasia syndrome

No Assertion Criteria Provided

CA253530

rs_104894416

1 SubmittersRCV000005886

NM_022336.4(EDAR):c.266G>A (p.Arg89His)

SNV
Germline

Chr2:108929288

Pathogenic

Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant
Mitochondrial DNA depletion syndrome 4b
Progressive sclerosing poliodystrophy
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

CA130257

rs_121908450

4 SubmittersRCV000006206 RCV000032598 RCV000681480 RCV001253315 RCV001038628

NM_022336.4(EDAR):c.1072C>T (p.Arg358Ter)

SNV
Germline

Chr2:108897182

Pathogenic

Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant
Condition: not provided
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
Non-syndromic oligodontia
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

CA117808

rs_121908452

6 SubmittersRCV000006210 RCV000255664 RCV000532015 RCV001261883 RCV003505080

NM_022336.4(EDAR):c.1259G>A (p.Arg420Gln)

SNV
Germline

Chr2:108896995

Pathogenic/Likely pathogenic

Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant
Condition: not provided
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

CA117810

rs_121908453

9 SubmittersRCV000006211 RCV000255701 RCV001050412 RCV001334149 RCV000755721

NM_022336.4(EDAR):c.51+1G>A

SNV
Germline

Chr2:108930963

Pathogenic

Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive

No Assertion Criteria Provided

CA253630

rs_797044435

1 SubmittersRCV000006212

NM_022336.4(EDAR):c.1124G>A (p.Arg375His)

SNV
Germline

Chr2:108897130

Likely pathogenic

Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
Condition: not provided

Criteria Provided
Single Submitter

CA253631

rs_121908454

2 SubmittersRCV000006213 RCV005251019

NM_022336.4(EDAR):c.329A>C (p.Asp110Ala)

SNV
Germline

Chr2:108929225

Pathogenic

Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive

No Assertion Criteria Provided

CA253632

rs_121908455

1 SubmittersRCV000006214

NM_022336.4(EDAR):c.1060G>T (p.Glu354Ter)

SNV
Germline

Chr2:108897194

Pathogenic

Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant

No Assertion Criteria Provided

CA117811

rs_121908456

1 SubmittersRCV000006215

NM_022336.4(EDAR):c.803+1G>A

SNV
Germline

Chr2:108910459

Pathogenic

Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
Ectodermal dysplasia

No Assertion Criteria Provided

CA253634

rs_797044437

2 SubmittersRCV000006218 RCV001729338

NM_003722.5(TP63):c.727C>T (p.Arg243Trp)

SNV
Germline

Chr3:189864379

Pathogenic

Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Condition: not provided
TP63-Related Spectrum Disorders
Rapp-Hodgkin syndrome
8 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA118334

rs_121908835

10 SubmittersRCV000006900 RCV000394306 RCV000812084 RCV002283440 RCV005025017

NM_003722.5(TP63):c.728G>A (p.Arg243Gln)

SNV
Germline

Chr3:189864380

Pathogenic

Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Condition: not provided
TP63-Related Spectrum Disorders
Split hand-foot malformation 4

Criteria Provided
Multiple Submitters
No Conflicts

CA118335

rs_121908836

4 SubmittersRCV000006901 RCV001804714 RCV000705452 RCV002250454

NM_003722.5(TP63):c.1033T>C (p.Cys345Arg)

SNV
Germline

Chr3:189868620

Pathogenic

Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3

No Assertion Criteria Provided

CA118336

rs_121908837

1 SubmittersRCV000006902

NM_003722.5(TP63):c.955C>T (p.Arg319Cys)

SNV
Germline

Chr3:189867905

Pathogenic

Split hand-foot malformation 4
Condition: not provided
TP63-Related Spectrum Disorders
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA118338

rs_121908839

7 SubmittersRCV000006905 RCV001280776 RCV002512857 RCV003162215

NM_003722.5(TP63):c.953G>A (p.Arg318His)

SNV
Germline

Chr3:189867903

Pathogenic/Likely pathogenic

Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Rapp-Hodgkin syndrome
Condition: not provided
TP63-Related Spectrum Disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA118339

rs_121908840

6 SubmittersRCV000006906 RCV000006907 RCV000478736 RCV000548176

NM_003722.5(TP63):c.1028G>A (p.Arg343Gln)

SNV
Germline

Chr3:189868615

Pathogenic/Likely pathogenic

Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Condition: not provided
TP63-Related Spectrum Disorders
Inborn genetic diseases
8 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA118340

rs_121908841

7 SubmittersRCV000006908 RCV000276670 RCV000655484 RCV001266717 RCV005025018

NM_003722.5(TP63):c.1052A>G (p.Asp351Gly)

SNV
Germline

Chr3:189868639

Pathogenic

Condition: not provided
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3

Criteria Provided
Single Submitter

CA118341

rs_121908844

2 SubmittersRCV000326964 RCV000006915

NM_003722.5(TP63):c.797G>A (p.Arg266Gln)

SNV
Germline

Chr3:189866712

Pathogenic/Likely pathogenic

Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
ADULT syndrome
Condition: not provided
TP63-Related Spectrum Disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA118348

rs_121908849

7 SubmittersRCV000006925 RCV000006926 RCV000413620 RCV001390108

NM_002855.5(NECTIN1):c.554G>A (p.Trp185Ter)

SNV
Germline

Chr11:119677734

Pathogenic

Cleft lip/palate-ectodermal dysplasia syndrome
Orofacial cleft 7

No Assertion Criteria Provided

CA120022

rs_104894281

1 SubmittersRCV000009531 RCV000009532

NM_001399.5(EDA):c.181T>C (p.Tyr61His)

SNV
Germline

ChrX:69616489

Pathogenic/Likely pathogenic

Hypohidrotic X-linked ectodermal dysplasia
Tooth agenesis, selective, X-linked, 1
Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Multiple Submitters
No Conflicts

CA255649

rs_132630308

3 SubmittersRCV000011778 RCV000763629

NM_001399.5(EDA):c.206G>T (p.Arg69Leu)

SNV
Germline

ChrX:69616514

Conflicting classifications of pathogenicity

Hypohidrotic X-linked ectodermal dysplasia
not specified
Condition: not provided
EDA-related disorder

Criteria Provided
Conflicting Classifications

CA255650

rs_132630309

17 SubmittersRCV000011779 RCV000218834 RCV000432524 RCV003894799

NM_001399.5(EDA):c.67C>T (p.Gln23Ter)

SNV
Germline

ChrX:69616375

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA255651

rs_132630310

3 SubmittersRCV000011780 RCV004786252

NM_001399.5(EDA):c.187G>A (p.Glu63Lys)

SNV
Germline

ChrX:69616495

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

No Assertion Criteria Provided

CA255653

rs_132630311

1 SubmittersRCV000011781

NM_001399.5(EDA):c.463C>T (p.Arg155Cys)

SNV
Germline

ChrX:69957093

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia
Condition: not provided
Hypohidrotic X-linked ectodermal dysplasia
Tooth agenesis, selective, X-linked, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA255654

rs_132630312

12 SubmittersRCV000011782 RCV000254983 RCV000763630

NM_001399.5(EDA):c.466C>T (p.Arg156Cys)

SNV
Germline

ChrX:69957096

Pathogenic/Likely pathogenic

Hypohidrotic X-linked ectodermal dysplasia
Condition: not provided
EDA-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA255655

rs_132630313

7 SubmittersRCV000011783 RCV000414306 RCV003390668

NM_001399.5(EDA):c.467G>A (p.Arg156His)

SNV
Germline

ChrX:69957097

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia
Condition: not provided
Hypohidrotic X-linked ectodermal dysplasia
Tooth agenesis, selective, X-linked, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA261114

rs_132630314

5 SubmittersRCV000032612 RCV000255365 RCV002490354

NM_001399.5(EDA):c.626C>T (p.Pro209Leu)

SNV
Germline

ChrX:70027956

Conflicting classifications of pathogenicity

Hypohidrotic X-linked ectodermal dysplasia
not specified

Criteria Provided
Conflicting Classifications

CA181048

rs_132630315

3 SubmittersRCV000011785 RCV000154610

NM_001399.5(EDA):c.671G>C (p.Gly224Ala)

SNV
Germline

ChrX:70028001

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

No Assertion Criteria Provided

CA255656

rs_132630316

1 SubmittersRCV000011786

NM_001399.5(EDA):c.1045G>A (p.Ala349Thr)

SNV
Germline

ChrX:70035478

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA255657

rs_132630317

3 SubmittersRCV000011787 RCV000255050

NM_001399.5(EDA):c.183C>G (p.Tyr61Ter)

SNV
Germline

ChrX:69616491

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA255658

rs_132630318

2 SubmittersRCV000011788

NM_001399.5(EDA):c.1013C>T (p.Thr338Met)

SNV
Germline

ChrX:70035446

Pathogenic

Tooth agenesis, selective, X-linked, 1
Hypohidrotic X-linked ectodermal dysplasia
Hypohidrotic X-linked ectodermal dysplasia
Tooth agenesis, selective, X-linked, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA121314

rs_132630321

4 SubmittersRCV000011795 RCV001205829 RCV005049332

NM_001099857.5(IKBKG):c.1259A>G (p.Ter420Trp)

SNV
Germline

ChrX:154564460

Pathogenic

Incontinentia pigmenti syndrome
ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1, MALE-RESTRICTED

No Assertion Criteria Provided

CA121467

rs_137853321

1 SubmittersRCV000170521 RCV000012203

NM_001099857.5(IKBKG):c.1171G>T (p.Glu391Ter)

SNV
Germline

ChrX:154564372

Pathogenic

Ectodermal dysplasia and immunodeficiency 1
Condition: not provided

Criteria Provided
Single Submitter

CA121470

rs_137853324

2 SubmittersRCV000012206 RCV000760425

NM_001099857.5(IKBKG):c.1249T>C (p.Cys417Arg)

SNV
Germline

ChrX:154564450

Pathogenic

Ectodermal dysplasia and immunodeficiency 1

No Assertion Criteria Provided

CA121473

rs_137853325

1 SubmittersRCV000012207

NM_001099857.5(IKBKG):c.1250G>T (p.Cys417Phe)

SNV
Germline

ChrX:154564451

Pathogenic

Ectodermal dysplasia and immunodeficiency 1
Condition: not provided

No Assertion Criteria Provided

CA121476

rs_137853326

2 SubmittersRCV000012211 RCV000059068

NM_001099857.5(IKBKG):c.1217A>T (p.Asp406Val)

SNV
Germline

ChrX:154564418

Likely pathogenic

ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1, MALE-RESTRICTED
Incontinentia pigmenti syndrome
Ectodermal dysplasia and immunodeficiency 1

Criteria Provided
Single Submitter

CA121479

rs_137853327

2 SubmittersRCV000024285 RCV001172474 RCV004820819

NM_001099857.5(IKBKG):c.458T>G (p.Leu153Arg)

SNV
Germline

ChrX:154558590

Pathogenic

Ectodermal dysplasia and immunodeficiency 1

No Assertion Criteria Provided

CA121482

rs_137853328

1 SubmittersRCV000012215

NM_001099857.5(IKBKG):c.1207C>T (p.Gln403Ter)

SNV
Germline

ChrX:154564408

Pathogenic

Ectodermal dysplasia and immunodeficiency 1

No Assertion Criteria Provided

CA121485

rs_137853329

1 SubmittersRCV000012216

NM_001099857.5(IKBKG):c.768+5G>A

SNV
Germline

ChrX:154561789

Pathogenic

Ectodermal dysplasia and immunodeficiency 1

No Assertion Criteria Provided

CA913184764

rs_1569556603

1 SubmittersRCV000012217

NM_001099857.5(IKBKG):c.863C>G (p.Ala288Gly)

SNV
Germline

ChrX:154562904

Pathogenic

Ectodermal dysplasia and immunodeficiency 1

No Assertion Criteria Provided

CA121488

rs_137853330

1 SubmittersRCV000012221

NM_020529.3(NFKBIA):c.95G>T (p.Ser32Ile)

SNV
Germline

Chr14:35404550

Pathogenic

Ectodermal dysplasia and immunodeficiency 2

No Assertion Criteria Provided

CA123691

rs_28933100

1 SubmittersRCV000015040

NM_020529.3(NFKBIA):c.32G>A (p.Trp11Ter)

SNV
Germline

Chr14:35404613

Conflicting classifications of pathogenicity

Ectodermal dysplasia and immunodeficiency 2
Inherited Immunodeficiency Diseases

Criteria Provided
Conflicting Classifications

CA123693

rs_121913664

3 SubmittersRCV000015041 RCV001027609

NM_020529.3(NFKBIA):c.40G>T (p.Glu14Ter)

SNV
Germline

Chr14:35404605

Pathogenic

Ectodermal dysplasia and immunodeficiency 2

No Assertion Criteria Provided

CA123696

rs_121913665

1 SubmittersRCV000015042

NM_003722.5(TP63):c.797G>C (p.Arg266Pro)

SNV
Germline

Chr3:189866712

Likely pathogenic

Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Condition: not provided

Criteria Provided
Single Submitter

CA355754417

rs_121908849

2 SubmittersRCV000023290 RCV004719659

NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser)

SNV
Germline

Chr4:39231943

Pathogenic

Cranioectodermal dysplasia 4
Senior-Loken syndrome 8
Condition: not provided
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Connective tissue disorder
Renal dysplasia and retinal aplasia
WDR19-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA199262

rs_387906980

10 SubmittersRCV000023681 RCV000169775 RCV001356848 RCV000987440 RCV001047050 RCV002276570 RCV003324499 RCV004532400

NM_025132.4(WDR19):c.3307C>T (p.Arg1103Ter)

SNV
Germline

Chr4:39268040

Pathogenic

Cranioectodermal dysplasia 4
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8

Criteria Provided
Single Submitter

CA342746

rs_387906981

3 SubmittersRCV000023682 RCV001857362

NM_030916.3(NECTIN4):c.635C>G (p.Pro212Arg)

SNV
Germline

Chr1:161077548

Pathogenic

Ectodermal dysplasia-syndactyly syndrome 1

No Assertion Criteria Provided

CA129470

rs_387907014

1 SubmittersRCV000023779

NM_001102564.3(IFT43):c.1A>G (p.Met1Val)

SNV
Germline

Chr14:75985787

Pathogenic

Condition: not provided
Cranioectodermal dysplasia 3

Criteria Provided
Single Submitter

CA342774

rs_387907107

3 SubmittersRCV001852564 RCV000024093

NM_001399.5(EDA):c.826C>T (p.Arg276Cys)

SNV
Germline

ChrX:70033430

Pathogenic/Likely pathogenic

Hypohidrotic X-linked ectodermal dysplasia
Ectodermal dysplasia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA260052

rs_387907197

4 SubmittersRCV000024599 RCV000626808 RCV002262574

NM_001099857.5(IKBKG):c.1056-6=

SNV
Germline

ChrX:154563953

Conflicting classifications of pathogenicity

Ectodermal dysplasia and immunodeficiency 1
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_5945206

4 SubmittersRCV000030048 RCV001698947 RCV001811209

NM_001099857.5(IKBKG):c.399+19G>C

SNV
Germline

ChrX:154556395

Conflicting classifications of pathogenicity

Ectodermal dysplasia and immunodeficiency 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA214034

rs_386134239

2 SubmittersRCV000030050 RCV001675585

NM_001099857.5(IKBKG):c.470A>C (p.Gln157Pro)

SNV
Germline

ChrX:154558602

Likely pathogenic

Ectodermal dysplasia and immunodeficiency 1

Criteria Provided
Single Submitter

CA214035

rs_386134240

1 SubmittersRCV000030051

NM_001099857.5(IKBKG):c.518+7C>T

SNV
Germline

ChrX:154558657

Conflicting classifications of pathogenicity

Ectodermal dysplasia and immunodeficiency 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA214038

rs_386134241

2 SubmittersRCV000030052 RCV001650848

NM_017410.3(HOXC13):c.390C>A (p.Tyr130Ter)

SNV
Germline

Chr12:53939296

Pathogenic

Ectodermal dysplasia 9, hair/nail type

No Assertion Criteria Provided

CA130554

rs_398122913

1 SubmittersRCV000033003

NM_001399.5(EDA):c.1094T>C (p.Val365Ala)

SNV
Germline

ChrX:70035527

Pathogenic/Likely pathogenic

Hypodontia
Hypohidrotic X-linked ectodermal dysplasia
Inborn genetic diseases
EDA-related disorder
Tooth agenesis, selective, X-linked, 1
Hypohidrotic X-linked ectodermal dysplasia
Tooth agenesis, selective, X-linked, 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA133741

rs_397516654

8 SubmittersRCV000037161 RCV000542700 RCV000624502 RCV004545739 RCV005049406 RCV003485530 RCV001577971

NM_001399.5(EDA):c.164T>A (p.Leu55Gln)

SNV
Germline

ChrX:69616472

Likely pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA261482

rs_397516657

1 SubmittersRCV000037164

NM_001399.5(EDA):c.2T>C (p.Met1Thr)

SNV
Germline

ChrX:69616310

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia
Condition: not provided
Hypohidrotic X-linked ectodermal dysplasia
Tooth agenesis, selective, X-linked, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA261484

rs_397516659

3 SubmittersRCV000037166 RCV000255907 RCV001814027

NM_001399.5(EDA):c.329C>A (p.Ser110Ter)

SNV
Germline

ChrX:69616637

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA261486

rs_397516660

1 SubmittersRCV000037167

NM_001399.5(EDA):c.347T>A (p.Leu116Ter)

SNV
Germline

ChrX:69616655

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA261488

rs_397516661

1 SubmittersRCV000037168

NM_001399.5(EDA):c.457C>T (p.Arg153Cys)

SNV
Germline

ChrX:69957087

Pathogenic

Condition: not provided
Hypohidrotic X-linked ectodermal dysplasia
Anhidrotic ectodermal dysplasia

Criteria Provided
Multiple Submitters
No Conflicts

CA261490

rs_397516662

10 SubmittersRCV000420111 RCV000592238 RCV003478983

NM_001399.5(EDA):c.467G>T (p.Arg156Leu)

SNV
Germline

ChrX:69957097

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA261491

rs_132630314

1 SubmittersRCV000037172

NM_001399.5(EDA):c.491A>C (p.Glu164Ala)

SNV
Germline

ChrX:69957121

Conflicting classifications of pathogenicity

not specified
Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Conflicting Classifications

CA133747

rs_397516663

3 SubmittersRCV000037173 RCV000990855

NM_001399.5(EDA):c.526+5G>T

SNV
Germline

ChrX:70023246

Likely pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Multiple Submitters
No Conflicts

CA261493

rs_397516664

2 SubmittersRCV000037174

NM_001399.5(EDA):c.607C>T (p.Pro203Ser)

SNV
Germline

ChrX:70027937

Likely pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Multiple Submitters
No Conflicts

CA261501

rs_397516671

2 SubmittersRCV000037181

NM_001399.5(EDA):c.730C>T (p.Arg244Ter)

SNV
Germline

ChrX:70029527

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia
Condition: not provided
EDA-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA261503

rs_397516672

4 SubmittersRCV000037183 RCV000255016 RCV003904912

NM_001399.5(EDA):c.822G>T (p.Trp274Cys)

SNV
Germline

ChrX:70033426

Likely pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA261505

rs_397516675

1 SubmittersRCV000037187

NM_001399.5(EDA):c.871G>A (p.Gly291Arg)

SNV
Germline

ChrX:70033475

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia
Condition: not provided
Anhidrotic ectodermal dysplasia

Criteria Provided
Multiple Submitters
No Conflicts

CA261508

rs_397516677

5 SubmittersRCV000037189 RCV000256153 RCV003398602

NM_001399.5(EDA):c.881A>T (p.Glu294Val)

SNV
Germline

ChrX:70033485

Conflicting classifications of pathogenicity

not specified
Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Conflicting Classifications

CA133757

rs_397516678

2 SubmittersRCV000037190 RCV002513473

NM_001399.5(EDA):c.895G>A (p.Gly299Ser)

SNV
Germline

ChrX:70033499

Pathogenic/Likely pathogenic

Hypohidrotic X-linked ectodermal dysplasia
Condition: not provided
Hypohidrotic X-linked ectodermal dysplasia
Tooth agenesis, selective, X-linked, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA261509

rs_397516679

4 SubmittersRCV000037191 RCV001778676 RCV004795956

NM_001399.5(EDA):c.902A>G (p.Tyr301Cys)

SNV
Germline

ChrX:70033506

Likely pathogenic

Hypohidrotic X-linked ectodermal dysplasia

No Assertion Criteria Provided

CA261510

rs_397516681

1 SubmittersRCV000037193

NM_001399.5(EDA):c.961G>T (p.Glu321Ter)

SNV
Germline

ChrX:70035394

Likely pathogenic

Hypohidrotic X-linked ectodermal dysplasia
EDA-related disorder
Condition: not provided

Criteria Provided
Single Submitter

CA261512

rs_397516682

3 SubmittersRCV000037194 RCV003904913 RCV004700307

NM_001110219.3(GJB6):c.15G>A (p.Thr5=)

SNV
Germline

Chr13:20223466

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hidrotic ectodermal dysplasia syndrome
Autosomal dominant nonsyndromic hearing loss 3B
Autosomal recessive nonsyndromic hearing loss 1A
Autosomal recessive nonsyndromic hearing loss 1B
Hidrotic ectodermal dysplasia syndrome

Criteria Provided
Conflicting Classifications

CA136456

rs_150075979

5 SubmittersRCV000038706 RCV000723383 RCV001112813 RCV002054714

NM_001110219.3(GJB6):c.489G>A (p.Leu163=)

SNV
Germline

Chr13:20222992

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hidrotic ectodermal dysplasia syndrome
Autosomal recessive nonsyndromic hearing loss 1A
Autosomal recessive nonsyndromic hearing loss 1B
Autosomal dominant nonsyndromic hearing loss 3B
Hidrotic ectodermal dysplasia syndrome

Criteria Provided
Conflicting Classifications

CA136461

rs_35002004

6 SubmittersRCV000038708 RCV000723451 RCV001080917 RCV001110053

NM_020779.4(WDR35):c.1889T>G (p.Leu630Ter)

SNV
Germline

Chr2:19941796

Pathogenic/Likely pathogenic

Cranioectodermal dysplasia 2
WDR35-related disorder
Jeune thoracic dystrophy
Short-rib thoracic dysplasia 7 with or without polydactyly
Cranioectodermal dysplasia 2
Cranioectodermal dysplasia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344941

rs_199952377

12 SubmittersRCV000055830 RCV000288028 RCV000515864 RCV000648351 RCV000826131 RCV001557398

NM_020779.4(WDR35):c.1559T>C (p.Leu520Pro)

SNV
Germline

Chr2:19946536

Pathogenic

Cranioectodermal dysplasia 2

No Assertion Criteria Provided

CA344943

rs_397515533

1 SubmittersRCV000055831

NM_020779.4(WDR35):c.504T>A (p.Ser168Arg)

SNV
Germline

Chr2:19975596

Likely pathogenic

Short-rib thoracic dysplasia 7 with or without polydactyly
Cranioectodermal dysplasia 2

Criteria Provided
Single Submitter

CA344948

rs_397515536

1 SubmittersRCV001994033

NM_001099857.5(IKBKG):c.931G>A (p.Asp311Asn)

SNV
Germline

ChrX:154563577

Likely pathogenic

Condition: not provided
Ectodermal dysplasia and immunodeficiency 1

Criteria Provided
Single Submitter

CA219237

rs_179363867

2 SubmittersRCV000059075 RCV000589891

NM_022336.4(EDAR):c.293G>A (p.Arg98Gln)

SNV
Germline

Chr2:108929261

Pathogenic

Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome

Criteria Provided
Single Submitter

CA1825135

rs_144473052

1 SubmittersRCV002982504

NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu)

SNV
Germline

Chr16:1571494

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 80
Retinitis pigmentosa
IFT140-related disorder
Cranioectodermal dysplasia 5
Retinitis pigmentosa 80
Saldino-Mainzer syndrome

Criteria Provided
Conflicting Classifications

CA149748

rs_199826737

15 SubmittersRCV000626462 RCV001075445 RCV001268554 RCV001542691 RCV002509205 RCV003398688 RCV005259988 RCV005016364

NM_025132.4(WDR19):c.3703G>A (p.Glu1235Lys)

SNV
Germline

Chr4:39274945

Pathogenic/Likely pathogenic

Nephronophthisis 13
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Condition: not provided
Cranioectodermal dysplasia 4
Spermatogenic failure 72
Asphyxiating thoracic dystrophy 5
Nephronophthisis 13
Senior-Loken syndrome 8

Criteria Provided
Multiple Submitters
No Conflicts

CA151410

rs_587777351

7 SubmittersRCV000115013 RCV001281118 RCV001854544 RCV000788500 RCV002477273

NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln)

SNV
Germline

Chr4:39273029

Pathogenic/Likely pathogenic

Senior-Loken syndrome 8
Condition: not provided
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Nephronophthisis 13
Senior-Loken syndrome 8
Cranioectodermal dysplasia 4
Nephronophthisis 13
Leber congenital amaurosis
WDR19-related disorder
Cranioectodermal dysplasia 4
Asphyxiating thoracic dystrophy 5
Nephronophthisis 13
Senior-Loken syndrome 8
Cranioectodermal dysplasia
Cranioectodermal dysplasia 4
Spermatogenic failure 72
Asphyxiating thoracic dystrophy 5
Nephronophthisis 13
Senior-Loken syndrome 8

Criteria Provided
Multiple Submitters
No Conflicts

CA151412

rs_79436363

11 SubmittersRCV000115014 RCV000433622 RCV000653250 RCV000850617 RCV003224150 RCV003224149 RCV001262101 RCV005250018 RCV005359057 RCV000754960 RCV005031600

NM_001399.5(EDA):c.396+2T>G

SNV
Germline

ChrX:69616706

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA273616

rs_727504814

1 SubmittersRCV000156149

NM_001399.5(EDA):c.502+1G>A

SNV
Germline

ChrX:69957133

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA273640

rs_727505013

1 SubmittersRCV000156436

NM_001399.5(EDA):c.766C>T (p.Gln256Ter)

SNV
Germline

ChrX:70030493

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Multiple Submitters
No Conflicts

CA273531

rs_727504417

2 SubmittersRCV000686194

NM_001399.5(EDA):c.991C>T (p.Gln331Ter)

SNV
Germline

ChrX:70035424

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Multiple Submitters
No Conflicts

CA273147

rs_727503011

2 SubmittersRCV000150607

NM_001399.5(EDA):c.396+1G>A

SNV
Germline

ChrX:69616705

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA273568

rs_727504537

1 SubmittersRCV000155689

NM_001399.5(EDA):c.474A>C (p.Lys158Asn)

SNV
Germline

ChrX:69957104

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA273588

rs_727504649

1 SubmittersRCV000155912

NM_001399.5(EDA):c.676C>T (p.Gln226Ter)

SNV
Germline

ChrX:70028006

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Multiple Submitters
No Conflicts

CA273141

rs_727503007

2 SubmittersRCV000150598

NM_001399.5(EDA):c.794A>G (p.Asp265Gly)

SNV
Germline

ChrX:70033398

Conflicting classifications of pathogenicity

not specified
Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Conflicting Classifications

CA184075

rs_727504750

4 SubmittersRCV000156051 RCV000796602

NM_001399.5(EDA):c.822G>A (p.Trp274Ter)

SNV
Germline

ChrX:70033426

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA273144

rs_397516675

1 SubmittersRCV000150600

NM_025132.4(WDR19):c.2792A>C (p.Tyr931Ser)

SNV
Germline

Chr4:39253208

Conflicting classifications of pathogenicity

not specified
Asphyxiating thoracic dystrophy 5
Cranioectodermal dysplasia 4
Condition: not provided
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Inborn genetic diseases
WDR19-related disorder
Connective tissue disorder

Criteria Provided
Conflicting Classifications

CA235263

rs_187546086

11 SubmittersRCV000154140 RCV000278329 RCV000317115 RCV000723861 RCV001083264 RCV002516102 RCV004532742 RCV002277304

NM_001006657.2(WDR35):c.1215A>G (p.Thr405=)

SNV
Germline

Chr2:19962307

Conflicting classifications of pathogenicity

Condition: not provided
Short-rib thoracic dysplasia 7 with or without polydactyly
Cranioectodermal dysplasia 2
Cranioectodermal dysplasia 2
Short-rib thoracic dysplasia 7 with or without polydactyly
Connective tissue disorder

Criteria Provided
Conflicting Classifications

CA235267

rs_144673252

4 SubmittersRCV000154144 RCV000266638 RCV000324065 RCV001087229 RCV002277305

NM_052989.3(IFT122):c.1715G>T (p.Gly572Val)

SNV
Germline

Chr3:129483546

Likely pathogenic

Condition: not provided
Cranioectodermal dysplasia 1

Criteria Provided
Single Submitter

CA236202

rs_786205566

1 SubmittersRCV000171370 RCV003989481

NM_052989.3(IFT122):c.2375+2T>C

SNV
Germline

Chr3:129500070

Pathogenic

Condition: not provided
Cranioectodermal dysplasia
Cranioectodermal dysplasia 1

Criteria Provided
Single Submitter

CA236204

rs_786205567

1 SubmittersRCV000171371 RCV000256473 RCV004527368

NM_025132.4(WDR19):c.2777G>T (p.Ser926Ile)

SNV
Germline

Chr4:39253193

Conflicting classifications of pathogenicity

Condition: not provided
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Retinal dystrophy
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Nephronophthisis 13
Cranioectodermal dysplasia 4
Spermatogenic failure 72
Nephronophthisis 13

Criteria Provided
Conflicting Classifications

CA236213

rs_751386429

5 SubmittersRCV000171376 RCV002515238 RCV004815270 RCV005031700 RCV003989482

NM_022336.4(EDAR):c.1144G>A (p.Gly382Ser)

SNV
Germline

Chr2:108897110

Pathogenic

Condition: not provided
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA274979

rs_747806672

4 SubmittersRCV000255133 RCV001384049 RCV005208127

NM_052989.3(IFT122):c.1992+7A>G

SNV
Germline

Chr3:129488404

Conflicting classifications of pathogenicity

Condition: not provided
Cranioectodermal dysplasia 1

Criteria Provided
Conflicting Classifications

CA240965

rs_757823317

2 SubmittersRCV000175241 RCV002056933

NM_052989.3(IFT122):c.2749T>G (p.Tyr917Asp)

SNV
Germline

Chr3:129506507

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cranioectodermal dysplasia 1

Criteria Provided
Conflicting Classifications

CA209252

rs_146818399

4 SubmittersRCV000194823 RCV000724440 RCV001086963

NM_052989.3(IFT122):c.2721G>A (p.Ala907=)

SNV
Germline

Chr3:129506479

Conflicting classifications of pathogenicity

Condition: not provided
Cranioectodermal dysplasia 1

Criteria Provided
Conflicting Classifications

CA242370

rs_371570973

3 SubmittersRCV000176430 RCV000328099

NM_020779.4(WDR35):c.2777A>G (p.Tyr926Cys)

SNV
Germline

Chr2:19932329

Conflicting classifications of pathogenicity

Condition: not provided
Cranioectodermal dysplasia 2
Cranioectodermal dysplasia 2
Short-rib thoracic dysplasia 7 with or without polydactyly
Short-rib thoracic dysplasia 7 with or without polydactyly
WDR35-related disorder

Criteria Provided
Conflicting Classifications

CA242420

rs_75602337

5 SubmittersRCV000176461 RCV000363678 RCV001078877 RCV000266710 RCV004539638

NM_052989.3(IFT122):c.3129C>T (p.Arg1043=)

SNV
Germline

Chr3:129514530

Conflicting classifications of pathogenicity

not specified
Cranioectodermal dysplasia 1
Connective tissue disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA206264

rs_76881473

7 SubmittersRCV000193036 RCV000878287 RCV002277380 RCV001555254

NM_001110219.3(GJB6):c.177A>G (p.Gly59=)

SNV
Germline

Chr13:20223304

Conflicting classifications of pathogenicity

Condition: not provided
Hidrotic ectodermal dysplasia syndrome
Autosomal dominant nonsyndromic hearing loss 3B
Autosomal recessive nonsyndromic hearing loss 1A
Autosomal recessive nonsyndromic hearing loss 1B
Hidrotic ectodermal dysplasia syndrome
GJB6-related disorder

Criteria Provided
Conflicting Classifications

CA243400

rs_371123633

5 SubmittersRCV000177262 RCV000355903 RCV001087329 RCV004537425

NM_003722.5(TP63):c.740A>G (p.His247Arg)

SNV
Germline

Chr3:189864392

Pathogenic

Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Condition: not provided
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
TP63-Related Spectrum Disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA339766

rs_864621968

4 SubmittersRCV000206266 RCV000312203 RCV005208129 RCV000821003

NM_003722.5(TP63):c.1037C>G (p.Ala346Gly)

SNV
Germline

Chr3:189868624

Pathogenic

Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3

Criteria Provided
Single Submitter

CA204448

rs_797044484

1 SubmittersRCV000190455

NM_020779.4(WDR35):c.2066G>A (p.Arg689His)

SNV
Germline

Chr2:19937944

Conflicting classifications of pathogenicity

not specified
Short-rib thoracic dysplasia 7 with or without polydactyly
Cranioectodermal dysplasia 2
Short-rib thoracic dysplasia 7 with or without polydactyly
Cranioectodermal dysplasia 2
Condition: not provided
WDR35-related disorder

Criteria Provided
Conflicting Classifications

CA207959

rs_74470618

7 SubmittersRCV000194057 RCV000648352 RCV001143632 RCV001143633 RCV001582689 RCV004530150

NM_020779.4(WDR35):c.1435A>G (p.Met479Val)

SNV
Germline

Chr2:19951450

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Short-rib thoracic dysplasia 7 with or without polydactyly
Cranioectodermal dysplasia 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA206270

rs_797046099

7 SubmittersRCV000193041 RCV000724941 RCV001853122 RCV005520250

NM_001110219.3(GJB6):c.301G>A (p.Glu101Lys)

SNV
Germline

Chr13:20223180

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 1B
Autosomal dominant nonsyndromic hearing loss 3B
Autosomal recessive nonsyndromic hearing loss 1B
X-linked mixed hearing loss with perilymphatic gusher
Hidrotic ectodermal dysplasia syndrome
Autosomal dominant nonsyndromic hearing loss 3B
Autosomal recessive nonsyndromic hearing loss 1A
not specified

Criteria Provided
Conflicting Classifications

CA6904473

rs_571454176

3 SubmittersRCV000490500 RCV002478761 RCV003330585

NM_001399.5(EDA):c.477A>T (p.Arg159Ser)

SNV
Germline

ChrX:69957107

Likely pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA10577172

rs_876657640

1 SubmittersRCV000218495

NM_001399.5(EDA):c.866G>A (p.Arg289His)

SNV
Germline

ChrX:70033470

Pathogenic/Likely pathogenic

Hypodontia
Hypohidrotic X-linked ectodermal dysplasia
Anhidrotic ectodermal dysplasia
Tooth agenesis, selective, X-linked, 1
Hypohidrotic X-linked ectodermal dysplasia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10577177

rs_876657641

5 SubmittersRCV000223248 RCV001054886 RCV003317157 RCV001248822 RCV003886387

NM_001399.5(EDA):c.911A>C (p.Tyr304Ser)

SNV
Germline

ChrX:70033515

Likely pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA10577178

rs_876657642

1 SubmittersRCV000214953

NM_001399.5(EDA):c.960T>G (p.Tyr320Ter)

SNV
Germline

ChrX:70035393

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA10577179

rs_876657687

1 SubmittersRCV000222108

NM_001399.5(EDA):c.1067C>T (p.Ala356Val)

SNV
Germline

ChrX:70035500

Pathogenic/Likely pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Multiple Submitters
No Conflicts

CA10577181

rs_876657639

2 SubmittersRCV000809933

NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn)

SNV
Germline

Chr21:44499878

Conflicting classifications of pathogenicity

not specified
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
Condition: not provided
Inborn genetic diseases
Autosomal recessive nonsyndromic hearing loss 98
Tooth agenesis, selective, 10
TSPEAR-related disorder

Criteria Provided
Conflicting Classifications

CA10056257

rs_138480801

16 SubmittersRCV000218316 RCV000721121 RCV000844249 RCV001267478 RCV001335431 RCV002470820 RCV003977608

NM_025132.4(WDR19):c.3918-6A>C

SNV
Germline

Chr4:39278533

Conflicting classifications of pathogenicity

not specified
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Cranioectodermal dysplasia 4
Asphyxiating thoracic dystrophy 5

Criteria Provided
Conflicting Classifications

CA2892539

rs_199546190

3 SubmittersRCV000239256 RCV000877878 RCV001144715 RCV001150826

NM_001399.5(EDA):c.865C>T (p.Arg289Cys)

SNV
Germline

ChrX:70033469

Pathogenic

Tooth agenesis, selective, X-linked, 1
Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Multiple Submitters
No Conflicts

CA10586173

rs_879255551

3 SubmittersRCV000239506 RCV000692210

NM_001399.5(EDA):c.755A>T (p.His252Leu)

SNV
Germline

ChrX:70030482

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

No Assertion Criteria Provided

CA10586174

rs_879255552

1 SubmittersRCV000239466

NM_145861.4(EDARADD):c.367G>A (p.Asp123Asn)

SNV
Germline

Chr1:236482368

Likely pathogenic

ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive

Criteria Provided
Single Submitter

CA10586192

rs_879255629

2 SubmittersRCV000239549 RCV003765486

NM_145861.4(EDARADD):c.120+1G>A

SNV
Germline

Chr1:236409275

Pathogenic

Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive

No Assertion Criteria Provided

CA10586193

rs_879255553

1 SubmittersRCV000239464

NM_145861.4(EDARADD):c.161-13T>C

SNV
Germline

Chr1:236427379

Conflicting classifications of pathogenicity

not specified
Hypohidrotic Ectodermal Dysplasia, Recessive
Hypohidrotic ectodermal dysplasia
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive

Criteria Provided
Conflicting Classifications

CA1470011

rs_184596437

3 SubmittersRCV000244576 RCV000293938 RCV001100444 RCV002518659

NM_022336.4(EDAR):c.1138A>C (p.Ser380Arg)

SNV
Germline

Chr2:108897116

Conflicting classifications of pathogenicity

not specified
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
Non-syndromic oligodontia
Hypohidrotic ectodermal dysplasia
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive

Criteria Provided
Conflicting Classifications

CA1824811

rs_146567337

5 SubmittersRCV000243038 RCV000864277 RCV001261888 RCV001133944 RCV005361494

NM_022336.4(EDAR):c.319A>G (p.Met107Val)

SNV
Germline

Chr2:108929235

Conflicting classifications of pathogenicity

not specified
Hypohidrotic Ectodermal Dysplasia, Dominant
Hypohidrotic ectodermal dysplasia
Non-syndromic oligodontia
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome

Criteria Provided
Conflicting Classifications

CA1825128

rs_61761321

6 SubmittersRCV000247995 RCV000336113 RCV001134059 RCV001261885 RCV005361495 RCV002519938

NM_052989.3(IFT122):c.1026C>T (p.Asp342=)

SNV
Germline

Chr3:129476680

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cranioectodermal dysplasia 1

Criteria Provided
Conflicting Classifications

CA2606058

rs_79187669

5 SubmittersRCV000251326 RCV000725440 RCV001086371

NM_025132.4(WDR19):c.1198C>T (p.Leu400=)

SNV
Germline

Chr4:39216159

Conflicting classifications of pathogenicity

not specified
Cranioectodermal dysplasia 4
Asphyxiating thoracic dystrophy 5
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2891795

rs_199765304

4 SubmittersRCV000246087 RCV000338763 RCV000302521 RCV000952547 RCV001753728

NM_022336.4(EDAR):c.1121G>A (p.Trp374Ter)

SNV
Germline

Chr2:108897133

Pathogenic/Likely pathogenic

Condition: not provided
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10588306

rs_886039348

2 SubmittersRCV000256050 RCV001068701

NM_022336.4(EDAR):c.1073G>A (p.Arg358Gln)

SNV
Germline

Chr2:108897181

Pathogenic

Condition: not provided
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

CA10588307

rs_886039564

3 SubmittersRCV000254918 RCV001389818 RCV001808722

NM_022336.4(EDAR):c.463G>A (p.Ala155Thr)

SNV
Germline

Chr2:108912744

Conflicting classifications of pathogenicity

Condition: not provided
Hypohidrotic ectodermal dysplasia
Inborn genetic diseases
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome

Criteria Provided
Conflicting Classifications

CA1825062

rs_370972367

4 SubmittersRCV000255100 RCV001131113 RCV004021023 RCV002059056

NM_001399.5(EDA):c.706+1G>A

SNV
Germline

ChrX:70028037

Pathogenic/Likely pathogenic

Condition: not provided
Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Multiple Submitters
No Conflicts

CA10588796

rs_886039344

3 SubmittersRCV000256169 RCV000525670

NM_001399.5(EDA):c.1069C>T (p.Arg357Trp)

SNV
Germline

ChrX:70035502

Pathogenic/Likely pathogenic

Condition: not provided
Hypohidrotic X-linked ectodermal dysplasia
EDA-related disorder
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA10588798

rs_886039347

6 SubmittersRCV000255432 RCV000532383 RCV004730918 RCV004584376

NM_025132.4(WDR19):c.1434C>G (p.Ile478Met)

SNV
Germline

Chr4:39218060

Pathogenic/Likely pathogenic

Cranioectodermal dysplasia
Senior-Loken syndrome 8

No Assertion Criteria Provided

CA10588960

rs_886039814

2 SubmittersRCV000256446 RCV000985142

NM_022336.4(EDAR):c.1284T>A (p.Cys428Ter)

SNV
Unknown

Chr2:108896970

Likely pathogenic

Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant

No Assertion Criteria Provided

CA10602612

rs_886041005

1 SubmittersRCV000258329

NM_145861.4(EDARADD):c.196C>T (p.Arg66Ter)

SNV
Germline

Chr1:236427427

Pathogenic

Condition: not provided
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA1470017

rs_766500689

2 SubmittersRCV000323922 RCV003338495

NM_003722.5(TP63):c.1027C>T (p.Arg343Trp)

SNV
Germline

Chr3:189868614

Pathogenic

Condition: not provided
TP63-Related Spectrum Disorders
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA10602901

rs_886041251

6 SubmittersRCV000371222 RCV001050126 RCV003152702

NM_025132.4(WDR19):c.2363+1G>A

SNV
Germline

Chr4:39234876

Pathogenic/Likely pathogenic

Condition: not provided
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Senior-Loken syndrome 8
Spermatogenic failure 72
Asphyxiating thoracic dystrophy 5
Nephronophthisis 13
Cranioectodermal dysplasia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA10602914

rs_886041912

4 SubmittersRCV000320568 RCV001234299 RCV005235249 RCV002494812

NM_020529.3(NFKBIA):c.25C>T (p.Gln9Ter)

SNV
Germline

Chr14:35404620

Pathogenic

Condition: not provided
Ectodermal dysplasia and immunodeficiency 2

Criteria Provided
Multiple Submitters
No Conflicts

CA10603205

rs_886041411

2 SubmittersRCV000325290 RCV005090329

NM_001399.5(EDA):c.872G>A (p.Gly291Glu)

SNV
Germline

ChrX:70033476

Pathogenic

Condition: not provided
Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Multiple Submitters
No Conflicts

CA10603736

rs_886042021

2 SubmittersRCV000378927 RCV001347864

NM_020779.4(WDR35):c.355C>T (p.Arg119Cys)

SNV
Germline

Chr2:19978832

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 2
Short-rib thoracic dysplasia 7 with or without polydactyly
not specified
Condition: not provided
Short-rib thoracic dysplasia 7 with or without polydactyly
Cranioectodermal dysplasia 2
WDR35-related disorder

Criteria Provided
Conflicting Classifications

CA1543553

rs_140308808

7 SubmittersRCV000280618 RCV000375021 RCV000356360 RCV000767100 RCV001085930 RCV004535250

NM_052989.3(IFT122):c.229G>A (p.Val77Ile)

SNV
Germline

Chr3:129458634

Conflicting classifications of pathogenicity

Condition: not provided
Cranioectodermal dysplasia 1

Criteria Provided
Conflicting Classifications

CA2605752

rs_369525803

3 SubmittersRCV000400100 RCV002480008

NM_052989.3(IFT122):c.978G>A (p.Thr326=)

SNV
Germline

Chr3:129476476

Conflicting classifications of pathogenicity

Condition: not provided
Cranioectodermal dysplasia 1

Criteria Provided
Conflicting Classifications

CA2606034

rs_781409395

2 SubmittersRCV000303023 RCV002059123

NM_052989.3(IFT122):c.617T>C (p.Ile206Thr)

SNV
Germline

Chr3:129466943

Conflicting classifications of pathogenicity

not specified
Cranioectodermal dysplasia 1
Inborn genetic diseases
IFT122-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2605932

rs_59912693

7 SubmittersRCV000399070 RCV000945510 RCV003278735 RCV003939973 RCV001582907

NM_020779.4(WDR35):c.1227A>G (p.Thr409=)

SNV
Germline

Chr2:19960582

Conflicting classifications of pathogenicity

Condition: not provided
Short-rib thoracic dysplasia 7 with or without polydactyly
Cranioectodermal dysplasia 2
WDR35-related disorder

Criteria Provided
Conflicting Classifications

CA1543294

rs_148828104

4 SubmittersRCV000317233 RCV002059130 RCV004535301

NM_052989.3(IFT122):c.3487T>A (p.Phe1163Ile)

SNV
Germline

Chr3:129519583

Conflicting classifications of pathogenicity

Condition: not provided
Connective tissue disorder
Inborn genetic diseases
Cranioectodermal dysplasia 1

Criteria Provided
Conflicting Classifications

CA2606945

rs_200606803

9 SubmittersRCV000294633 RCV002278283 RCV003278736 RCV000794465

NM_022336.4(EDAR):c.224C>T (p.Pro75Leu)

SNV
Germline

Chr2:108929330

Conflicting classifications of pathogenicity

Condition: not provided
Hypohidrotic ectodermal dysplasia
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant

Criteria Provided
Conflicting Classifications

CA1825147

rs_748806220

3 SubmittersRCV000263826 RCV001134061 RCV003765629

NM_001110219.3(GJB6):c.672A>G (p.Arg224=)

SNV
Germline

Chr13:20222809

Conflicting classifications of pathogenicity

Condition: not provided
Hidrotic ectodermal dysplasia syndrome
Autosomal recessive nonsyndromic hearing loss 1B
Hidrotic ectodermal dysplasia syndrome
Autosomal dominant nonsyndromic hearing loss 3B
Autosomal recessive nonsyndromic hearing loss 1A

Criteria Provided
Conflicting Classifications

CA6904399

rs_756597598

3 SubmittersRCV000270365 RCV001114091 RCV002059176

NM_020779.4(WDR35):c.1255+1G>A

SNV
Germline

Chr2:19960553

Pathogenic/Likely pathogenic

Condition: not provided
Short-rib thoracic dysplasia 7 with or without polydactyly
Cranioectodermal dysplasia 2

Criteria Provided
Multiple Submitters
No Conflicts

CA1543286

rs_371669862

3 SubmittersRCV000301418 RCV000797932

NM_025132.4(WDR19):c.2361C>T (p.Phe787=)

SNV
Germline

Chr4:39234873

Conflicting classifications of pathogenicity

not specified
Cranioectodermal dysplasia 4
Asphyxiating thoracic dystrophy 5
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Condition: not provided
Connective tissue disorder

Criteria Provided
Conflicting Classifications

CA2892056

rs_200133722

8 SubmittersRCV000286180 RCV000365966 RCV000399917 RCV001085843 RCV001701934 RCV002278307

NM_020779.4(WDR35):c.2109T>G (p.Thr703=)

SNV
Germline

Chr2:19937901

Conflicting classifications of pathogenicity

Condition: not provided
Cranioectodermal dysplasia 2
Short-rib thoracic dysplasia 7 with or without polydactyly
WDR35-related disorder

Criteria Provided
Conflicting Classifications

CA1543035

rs_201822027

3 SubmittersRCV000297454 RCV001479098 RCV004535394

NM_020779.4(WDR35):c.3252G>A (p.Glu1084=)

SNV
Germline

Chr2:19914147

Conflicting classifications of pathogenicity

Condition: not provided
Cranioectodermal dysplasia 2
Short-rib thoracic dysplasia 7 with or without polydactyly
WDR35-related disorder

Criteria Provided
Conflicting Classifications

CA1542711

rs_182360785

4 SubmittersRCV000352423 RCV001088237 RCV004535395

NM_052989.3(IFT122):c.669C>T (p.Tyr223=)

SNV
Germline

Chr3:129466995

Conflicting classifications of pathogenicity

Condition: not provided
Cranioectodermal dysplasia 1

Criteria Provided
Conflicting Classifications

CA2605945

rs_139008392

2 SubmittersRCV000393842 RCV003611508

NM_001006657.2(WDR35):c.1203C>T (p.Asn401=)

SNV
Germline

Chr2:19962319

Conflicting classifications of pathogenicity

Condition: not provided
Cranioectodermal dysplasia 2
Short-rib thoracic dysplasia 7 with or without polydactyly

Criteria Provided
Conflicting Classifications

CA1543311

rs_142103808

2 SubmittersRCV000318761 RCV001089185

NM_020779.4(WDR35):c.1183A>T (p.Asn395Tyr)

SNV
Germline

Chr2:19966735

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 6 with or without polydactyly
Short-rib thoracic dysplasia 7 with or without polydactyly
Cranioectodermal dysplasia 2
Connective tissue disorder
Condition: not provided
not specified
WDR35-related disorder
Cranioectodermal dysplasia 2
Short-rib thoracic dysplasia 7 with or without polydactyly

Criteria Provided
Conflicting Classifications

CA1543330

rs_143343508

11 SubmittersRCV000515966 RCV001086026 RCV002278315 RCV000395590 RCV004782345 RCV004732829 RCV001143732 RCV001143733

NM_020779.4(WDR35):c.3467T>G (p.Ile1156Arg)

SNV
Germline

Chr2:19913604

Conflicting classifications of pathogenicity

Condition: not provided
Cranioectodermal dysplasia 2
Short-rib thoracic dysplasia 7 with or without polydactyly
WDR35-related disorder

Criteria Provided
Conflicting Classifications

CA1542655

rs_147325795

4 SubmittersRCV000377253 RCV001086217 RCV004535416

NM_052989.3(IFT122):c.41+15G>T

SNV
Germline

Chr3:129440386

Conflicting classifications of pathogenicity

Condition: not provided
Cranioectodermal dysplasia 1

Criteria Provided
Conflicting Classifications

CA2605658

rs_36222038

3 SubmittersRCV000339201 RCV001148006

NM_145861.4(EDARADD):c.*417G>A

SNV
Germline

Chr1:236483066

Conflicting classifications of pathogenicity

Hypohidrotic Ectodermal Dysplasia, Recessive
Hypohidrotic ectodermal dysplasia

Criteria Provided
Conflicting Classifications

CA10609418

rs_189781826

1 SubmittersRCV000356260 RCV001097004

NM_145861.4(EDARADD):c.115A>G (p.Asn39Asp)

SNV
Germline

Chr1:236409269

Conflicting classifications of pathogenicity

Hypohidrotic Ectodermal Dysplasia, Recessive
Hypohidrotic ectodermal dysplasia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1469956

rs_759461234

2 SubmittersRCV000385891 RCV001100441 RCV002520476

NM_145861.4(EDARADD):c.*285G>A

SNV
Germline

Chr1:236482934

Conflicting classifications of pathogenicity

Hypohidrotic Ectodermal Dysplasia, Recessive
Hypohidrotic ectodermal dysplasia

Criteria Provided
Conflicting Classifications

CA10609574

rs_142266831

1 SubmittersRCV000361021 RCV001097002

NM_145861.4(EDARADD):c.*967A>G

SNV
Germline

Chr1:236483616

Conflicting classifications of pathogenicity

Hypohidrotic Ectodermal Dysplasia, Recessive
Hypohidrotic ectodermal dysplasia

Criteria Provided
Conflicting Classifications

CA10610446

rs_193138062

1 SubmittersRCV000384811 RCV001100553

NM_145861.4(EDARADD):c.*1438C>T

SNV
Germline

Chr1:236484087

Conflicting classifications of pathogenicity

Hypohidrotic Ectodermal Dysplasia, Recessive
Hypohidrotic ectodermal dysplasia

Criteria Provided
Conflicting Classifications

CA10610456

rs_201710490

1 SubmittersRCV000379160 RCV001102501

NM_145861.4(EDARADD):c.600C>T (p.Asp200=)

SNV
Germline

Chr1:236482601

Conflicting classifications of pathogenicity

Hypohidrotic Ectodermal Dysplasia, Recessive
Condition: not provided
Hypohidrotic ectodermal dysplasia

Criteria Provided
Conflicting Classifications

CA1470101

rs_74942492

2 SubmittersRCV000398173 RCV000953992 RCV001102403

NM_145861.4(EDARADD):c.*1887G>A

SNV
Germline

Chr1:236484536

Conflicting classifications of pathogenicity

Hypohidrotic Ectodermal Dysplasia, Recessive
Hypohidrotic ectodermal dysplasia

Criteria Provided
Conflicting Classifications

CA10610579

rs_114783553

1 SubmittersRCV000272688 RCV001098849

NM_022336.4(EDAR):c.-189T>C

SNV
Germline

Chr2:108989130

Conflicting classifications of pathogenicity

Hypohidrotic Ectodermal Dysplasia, Dominant
Hypohidrotic ectodermal dysplasia

Criteria Provided
Conflicting Classifications

CA10610967

rs_569682476

1 SubmittersRCV000269998 RCV001135571

NM_022336.4(EDAR):c.844C>T (p.Arg282Trp)

SNV
Germline

Chr2:108907979

Conflicting classifications of pathogenicity

Hypohidrotic Ectodermal Dysplasia, Dominant
Hypohidrotic ectodermal dysplasia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1824905

rs_781652310

2 SubmittersRCV000329517 RCV001135452 RCV005328245

NM_022336.4(EDAR):c.146C>T (p.Pro49Leu)

SNV
Germline

Chr2:108930148

Conflicting classifications of pathogenicity

Hypohidrotic Ectodermal Dysplasia, Dominant
Inborn genetic diseases
Hypohidrotic ectodermal dysplasia
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome

Criteria Provided
Conflicting Classifications

CA1825198

rs_375891208

3 SubmittersRCV000301138 RCV003168496 RCV001134066 RCV002229874

NM_022336.4(EDAR):c.68C>T (p.Ser23Leu)

SNV
Germline

Chr2:108930226

Conflicting classifications of pathogenicity

Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
Inborn genetic diseases
EDAR-related disorder
Hypohidrotic Ectodermal Dysplasia, Dominant
Hypohidrotic ectodermal dysplasia

Criteria Provided
Conflicting Classifications

CA1825221

rs_760731007

4 SubmittersRCV002229875 RCV002521263 RCV003950136 RCV000337432 RCV001135565

NM_020779.4(WDR35):c.2220C>T (p.Phe740=)

SNV
Germline

Chr2:19937790

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 7 with or without polydactyly
Cranioectodermal dysplasia 2
Short-rib thoracic dysplasia 7 with or without polydactyly
Cranioectodermal dysplasia 2

Criteria Provided
Conflicting Classifications

CA1543017

rs_535522970

2 SubmittersRCV000262901 RCV000355426 RCV002521355

NM_020779.4(WDR35):c.1591C>G (p.Leu531Val)

SNV
Germline

Chr2:19946504

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 2
Short-rib thoracic dysplasia 7 with or without polydactyly
Short-rib thoracic dysplasia 7 with or without polydactyly
Cranioectodermal dysplasia 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1543169

rs_148242353

4 SubmittersRCV000273395 RCV000312074 RCV000878115 RCV001574327

NM_020779.4(WDR35):c.1029T>C (p.Thr343=)

SNV
Germline

Chr2:19966889

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 7 with or without polydactyly
Cranioectodermal dysplasia 2
Short-rib thoracic dysplasia 7 with or without polydactyly
Cranioectodermal dysplasia 2

Criteria Provided
Conflicting Classifications

CA1543360

rs_536150588

2 SubmittersRCV000292694 RCV000407907 RCV002057634

NM_020779.4(WDR35):c.215-4C>G

SNV
Germline

Chr2:19980787

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 2
Short-rib thoracic dysplasia 7 with or without polydactyly
Short-rib thoracic dysplasia 7 with or without polydactyly
Cranioectodermal dysplasia 2

Criteria Provided
Conflicting Classifications

CA1543591

rs_369080910

3 SubmittersRCV000295469 RCV000345746 RCV002521359

NM_020779.4(WDR35):c.3279G>C (p.Gln1093His)

SNV
Germline

Chr2:19914120

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 7 with or without polydactyly
Cranioectodermal dysplasia 2
Short-rib thoracic dysplasia 7 with or without polydactyly
Cranioectodermal dysplasia 2
Condition: not provided
WDR35-related disorder
Connective tissue disorder

Criteria Provided
Conflicting Classifications

CA1542706

rs_148436608

5 SubmittersRCV000311978 RCV000405190 RCV000945632 RCV001660692 RCV004530345 RCV002278514

NM_020779.4(WDR35):c.2678T>C (p.Leu893Ser)

SNV
Germline

Chr2:19932428

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 2
Short-rib thoracic dysplasia 7 with or without polydactyly
Condition: not provided
Short-rib thoracic dysplasia 7 with or without polydactyly
Cranioectodermal dysplasia 2
WDR35-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1542859

rs_151047156

6 SubmittersRCV000324159 RCV000358005 RCV000733656 RCV001480464 RCV004544616 RCV004965417

NM_020779.4(WDR35):c.3026C>G (p.Thr1009Arg)

SNV
Germline

Chr2:19930491

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 2
Short-rib thoracic dysplasia 7 with or without polydactyly
Short-rib thoracic dysplasia 7 with or without polydactyly
Cranioectodermal dysplasia 2
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1542761

rs_201153804

6 SubmittersRCV000283688 RCV000380540 RCV001058852 RCV001731614 RCV004782362

NM_020779.4(WDR35):c.2965-4G>T

SNV
Germline

Chr2:19930556

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 2
Short-rib thoracic dysplasia 7 with or without polydactyly
Short-rib thoracic dysplasia 7 with or without polydactyly
Cranioectodermal dysplasia 2

Criteria Provided
Conflicting Classifications

CA1542772

rs_199696980

2 SubmittersRCV000282531 RCV000334458 RCV002057631

NM_020779.4(WDR35):c.2268-11T>G

SNV
Germline

Chr2:19936376

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 7 with or without polydactyly
Cranioectodermal dysplasia 2
Short-rib thoracic dysplasia 7 with or without polydactyly
Cranioectodermal dysplasia 2

Criteria Provided
Conflicting Classifications

CA10613448

rs_745664606

2 SubmittersRCV000304088 RCV000342664 RCV002057632

NM_020779.4(WDR35):c.798C>T (p.Ser266=)

SNV
Germline

Chr2:19973647

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 7 with or without polydactyly
Cranioectodermal dysplasia 2
Condition: not provided
Short-rib thoracic dysplasia 7 with or without polydactyly
Cranioectodermal dysplasia 2
WDR35-related disorder

Criteria Provided
Conflicting Classifications

CA1543430

rs_141118263

4 SubmittersRCV000307756 RCV000362407 RCV001546601 RCV001490944 RCV004530347

NM_020779.4(WDR35):c.1053T>C (p.Pro351=)

SNV
Germline

Chr2:19966865

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 2
Short-rib thoracic dysplasia 7 with or without polydactyly
Short-rib thoracic dysplasia 7 with or without polydactyly
Cranioectodermal dysplasia 2
WDR35-related disorder

Criteria Provided
Conflicting Classifications

CA1543355

rs_74385826

3 SubmittersRCV000282180 RCV000337183 RCV002057633 RCV004544617

NM_052989.3(IFT122):c.132C>G (p.Thr44=)

SNV
Germline

Chr3:129451937

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 1

Criteria Provided
Conflicting Classifications

CA10614836

rs_371772807

2 SubmittersRCV000282096

NM_052989.3(IFT122):c.1553G>A (p.Arg518His)

SNV
Germline

Chr3:129481594

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 1
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2606218

rs_138223055

4 SubmittersRCV000294078 RCV002298575 RCV002520080

NM_052989.3(IFT122):c.1758C>G (p.His586Gln)

SNV
Germline

Chr3:129483589

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 1

Criteria Provided
Conflicting Classifications

CA2606281

rs_141889207

3 SubmittersRCV000288140

NM_052989.3(IFT122):c.214T>G (p.Ser72Ala)

SNV
Germline

Chr3:129458619

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 1

Criteria Provided
Conflicting Classifications

CA2605748

rs_144140226

2 SubmittersRCV000399027

NM_052989.3(IFT122):c.321A>G (p.Gln107=)

SNV
Germline

Chr3:129461276

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia
not specified
Condition: not provided
Cranioectodermal dysplasia 1
Connective tissue disorder

Criteria Provided
Conflicting Classifications

CA2605834

rs_138793724

8 SubmittersRCV000352191 RCV000729626 RCV001553266 RCV000951867 RCV002278530

NM_052989.3(IFT122):c.1009-14C>T

SNV
Germline

Chr3:129476649

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 1

Criteria Provided
Conflicting Classifications

CA2606050

rs_202155515

2 SubmittersRCV000358875

NM_003722.5(TP63):c.303G>A (p.Ser101=)

SNV
Germline

Chr3:189738753

Conflicting classifications of pathogenicity

Orofacial cleft 8
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
TP63-Related Spectrum Disorders

Criteria Provided
Conflicting Classifications

CA2752072

rs_186864205

2 SubmittersRCV000280920 RCV000330162 RCV000375324

NM_003722.5(TP63):c.699A>G (p.Lys233=)

SNV
Germline

Chr3:189864351

Conflicting classifications of pathogenicity

TP63-Related Spectrum Disorders
Orofacial cleft 8
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
TP63-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2752229

rs_199727371

4 SubmittersRCV000291632 RCV000341676 RCV000399114 RCV003969993 RCV005243206

NM_003722.5(TP63):c.766+5G>A

SNV
Germline

Chr3:189864423

Conflicting classifications of pathogenicity

Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Orofacial cleft 8
TP63-Related Spectrum Disorders

Criteria Provided
Conflicting Classifications

CA2752235

rs_374425727

2 SubmittersRCV000312904 RCV000371099 RCV000406104

NM_003722.5(TP63):c.1374A>G (p.Ser458=)

SNV
Germline

Chr3:189886418

Conflicting classifications of pathogenicity

Orofacial cleft 8
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
TP63-Related Spectrum Disorders

Criteria Provided
Conflicting Classifications

CA2752475

rs_141794685

2 SubmittersRCV000290920 RCV000345850 RCV000385271

NM_003722.5(TP63):c.*1181T>C

SNV
Germline

Chr3:189895683

Conflicting classifications of pathogenicity

Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Orofacial cleft 8
TP63-Related Spectrum Disorders
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10615930

rs_565556454

2 SubmittersRCV000268038 RCV000320774 RCV000359141 RCV003437092

NM_052989.3(IFT122):c.2577G>A (p.Glu859=)

SNV
Germline

Chr3:129504348

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 1

Criteria Provided
Conflicting Classifications

CA2606575

rs_201077232

3 SubmittersRCV000275833

NM_052989.3(IFT122):c.3570G>T (p.Leu1190=)

SNV
Germline

Chr3:129519666

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 1

Criteria Provided
Conflicting Classifications

CA2606967

rs_146778076

2 SubmittersRCV000269212

NM_052989.3(IFT122):c.228C>T (p.Ser76=)

SNV
Germline

Chr3:129458633

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 1

Criteria Provided
Conflicting Classifications

CA2605751

rs_772835552

2 SubmittersRCV000313770

NM_052989.3(IFT122):c.829C>T (p.Arg277Trp)

SNV
Germline

Chr3:129476327

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 1

Criteria Provided
Conflicting Classifications

CA2606009

rs_61744448

3 SubmittersRCV000272301

NM_052989.3(IFT122):c.2181C>T (p.Thr727=)

SNV
Germline

Chr3:129495580

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 1

Criteria Provided
Conflicting Classifications

CA2606430

rs_545131069

2 SubmittersRCV000974010

NM_052989.3(IFT122):c.2433C>T (p.Cys811=)

SNV
Germline

Chr3:129502768

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 1
Connective tissue disorder

Criteria Provided
Conflicting Classifications

CA2606519

rs_141626835

3 SubmittersRCV000945404 RCV002278534

NM_025132.4(WDR19):c.1173C>T (p.Asn391=)

SNV
Germline

Chr4:39216134

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 4
Asphyxiating thoracic dystrophy 5
WDR19-related disorder
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8

Criteria Provided
Conflicting Classifications

CA2891791

rs_777985189

3 SubmittersRCV000393193 RCV000342172 RCV004530410 RCV003766008

NM_025132.4(WDR19):c.1357-7G>A

SNV
Germline

Chr4:39217976

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 4
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
WDR19-related disorder

Criteria Provided
Conflicting Classifications

CA2891833

rs_377101599

3 SubmittersRCV000270771 RCV000365336 RCV000955100 RCV004530411

NM_025132.4(WDR19):c.3358+15C>T

SNV
Germline

Chr4:39268106

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 5
Cranioectodermal dysplasia 4
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5

Criteria Provided
Conflicting Classifications

CA2892343

rs_750722358

2 SubmittersRCV000303611 RCV000356095 RCV002057927

NM_003722.5(TP63):c.1644C>T (p.Ser548=)

SNV
Germline

Chr3:189889476

Conflicting classifications of pathogenicity

Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Orofacial cleft 8
TP63-Related Spectrum Disorders

Criteria Provided
Conflicting Classifications

CA2752535

rs_763019843

2 SubmittersRCV000298655 RCV000353698 RCV000392141

NM_003722.5(TP63):c.*2426C>T

SNV
Germline

Chr3:189896928

Conflicting classifications of pathogenicity

Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Orofacial cleft 8
TP63-Related Spectrum Disorders

Criteria Provided
Conflicting Classifications

CA10617837

rs_568346565

1 SubmittersRCV000293115 RCV000334024 RCV000388520

NM_003722.5(TP63):c.*1939T>G

SNV
Germline

Chr3:189896441

Conflicting classifications of pathogenicity

TP63-Related Spectrum Disorders
Orofacial cleft 8
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10618241

rs_567626735

2 SubmittersRCV000283464 RCV000341965 RCV000380183 RCV003437093

NM_025132.4(WDR19):c.198A>T (p.Gly66=)

SNV
Germline

Chr4:39189689

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 5
Cranioectodermal dysplasia 4
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8

Criteria Provided
Conflicting Classifications

CA2891563

rs_749815295

2 SubmittersRCV000347534 RCV000395136 RCV002520238

NM_025132.4(WDR19):c.1248T>C (p.Asn416=)

SNV
Germline

Chr4:39216209

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia
Jeune thoracic dystrophy
Cranioectodermal dysplasia 4
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Spermatogenic failure 72
Nephronophthisis 13
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2891800

rs_772867899

4 SubmittersRCV000298705 RCV000400723 RCV002480216 RCV001850849 RCV004021962

NM_025132.4(WDR19):c.1839A>G (p.Leu613=)

SNV
Germline

Chr4:39228547

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 4
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5

Criteria Provided
Conflicting Classifications

CA2891949

rs_201320006

2 SubmittersRCV000280416 RCV000374932 RCV000895575

NM_025132.4(WDR19):c.3249T>C (p.Asp1083=)

SNV
Germline

Chr4:39266128

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 5
Cranioectodermal dysplasia 4
Connective tissue disorder
Condition: not provided
not specified
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5

Criteria Provided
Conflicting Classifications

CA2892303

rs_371128500

6 SubmittersRCV000289800 RCV000347138 RCV002278579 RCV001726139 RCV001699383 RCV001519086

NM_025132.4(WDR19):c.6+5A>G

SNV
Germline

Chr4:39182568

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 4
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Asphyxiating thoracic dystrophy 5

Criteria Provided
Conflicting Classifications

CA2891496

rs_201198839

2 SubmittersRCV000292560 RCV002057925 RCV000386870

NM_025132.4(WDR19):c.1249+9A>G

SNV
Germline

Chr4:39216219

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Cranioectodermal dysplasia
Connective tissue disorder
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5

Criteria Provided
Conflicting Classifications

CA2891801

rs_201377206

3 SubmittersRCV000353502 RCV000401556 RCV002278577 RCV000878418

NM_025132.4(WDR19):c.1932G>A (p.Thr644=)

SNV
Germline

Chr4:39228640

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 4
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5

Criteria Provided
Conflicting Classifications

CA10620972

rs_886059398

2 SubmittersRCV000335670 RCV002523470 RCV000397851

NM_025132.4(WDR19):c.1134+13T>G

SNV
Germline

Chr4:39216026

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia
Jeune thoracic dystrophy
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5

Criteria Provided
Conflicting Classifications

CA2891781

rs_374615138

2 SubmittersRCV000286504 RCV000380856 RCV002057926

NM_025132.4(WDR19):c.2364-15T>C

SNV
Germline

Chr4:39240262

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 5
Cranioectodermal dysplasia 4
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5

Criteria Provided
Conflicting Classifications

CA2892063

rs_771036360

2 SubmittersRCV000266893 RCV000324388 RCV001429588

NM_025132.4(WDR19):c.3283T>C (p.Leu1095=)

SNV
Germline

Chr4:39268016

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 5
Retinal dystrophy
Cranioectodermal dysplasia 4
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5

Criteria Provided
Conflicting Classifications

CA2892327

rs_769329045

3 SubmittersRCV000390270 RCV001074268 RCV000341521 RCV001413120

NM_025132.4(WDR19):c.3667C>T (p.Arg1223Cys)

SNV
Germline

Chr4:39274909

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 4
Asphyxiating thoracic dystrophy 5
Condition: not provided
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
WDR19-related disorder
Spermatogenic failure 72
Asphyxiating thoracic dystrophy 5
Nephronophthisis 13
Cranioectodermal dysplasia 4
Senior-Loken syndrome 8

Criteria Provided
Conflicting Classifications

CA2892440

rs_201597047

6 SubmittersRCV000288576 RCV000385239 RCV000488404 RCV001083150 RCV004530412 RCV005398477

NM_001110219.3(GJB6):c.60C>T (p.Ile20=)

SNV
Germline

Chr13:20223421

Conflicting classifications of pathogenicity

Hidrotic ectodermal dysplasia syndrome
Autosomal recessive nonsyndromic hearing loss 1B
Autosomal dominant nonsyndromic hearing loss 3B
Hidrotic ectodermal dysplasia syndrome
Autosomal recessive nonsyndromic hearing loss 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6904520

rs_778513540

3 SubmittersRCV000266682 RCV000890545 RCV003409482

NM_001110219.3(GJB6):c.405G>A (p.Thr135=)

SNV
Germline

Chr13:20223076

Conflicting classifications of pathogenicity

Hidrotic ectodermal dysplasia syndrome
not specified
Condition: not provided
GJB6-related disorder
Autosomal dominant nonsyndromic hearing loss 3B
Autosomal recessive nonsyndromic hearing loss 1A
Hidrotic ectodermal dysplasia syndrome
Autosomal recessive nonsyndromic hearing loss 1B

Criteria Provided
Conflicting Classifications

CA6904444

rs_145438428

5 SubmittersRCV000392327 RCV000612322 RCV001546167 RCV004537765 RCV002056360

NM_020529.3(NFKBIA):c.547+10C>T

SNV
Germline

Chr14:35403140

Conflicting classifications of pathogenicity

Ectodermal dysplasia and immunodeficiency 2

Criteria Provided
Conflicting Classifications

CA7155442

rs_201614038

2 SubmittersRCV000382961

NM_001399.5(EDA):c.827G>T (p.Arg276Leu)

SNV
Germline

ChrX:70033431

Pathogenic/Likely pathogenic

Condition: not provided
Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Multiple Submitters
No Conflicts

CA16043276

rs_1057517731

2 SubmittersRCV000413141 RCV001865280

NM_001399.5(EDA):c.769G>C (p.Gly257Arg)

SNV
Germline

ChrX:70030496

Conflicting classifications of pathogenicity

Condition: not provided
Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Conflicting Classifications

CA16043329

rs_1057517882

2 SubmittersRCV000413515 RCV005090663

NM_152365.3(KDF1):c.753C>A (p.Phe251Leu)

SNV
Germline

Chr1:26951628

Pathogenic

Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type

No Assertion Criteria Provided

CA16044286

rs_1057519508

1 SubmittersRCV000416757

NM_002742.3(PRKD1):c.1774G>A (p.Gly592Arg)

SNV
Germline

Chr14:29626508

Pathogenic

Congenital heart defects and ectodermal dysplasia

No Assertion Criteria Provided

CA16044435

rs_1057519635

1 SubmittersRCV000417214

NM_002742.3(PRKD1):c.896T>G (p.Leu299Trp)

SNV
Germline

Chr14:29638705

Pathogenic

Congenital heart defects and ectodermal dysplasia

No Assertion Criteria Provided

CA16044436

rs_1057519636

1 SubmittersRCV000417210

NM_052989.3(IFT122):c.2828A>G (p.Tyr943Cys)

SNV
Germline

Chr3:129507704

Pathogenic/Likely pathogenic

Condition: not provided
Cranioectodermal dysplasia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA2606669

rs_776099605

2 SubmittersRCV000429099 RCV005230338

NM_001399.5(EDA):c.617C>T (p.Pro206Leu)

SNV
Germline

ChrX:70027947

Likely pathogenic

Condition: not provided
Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Multiple Submitters
No Conflicts

CA16608975

rs_1057520742

2 SubmittersRCV000439320 RCV000526582

NM_001399.5(EDA):c.494G>C (p.Gly165Ala)

SNV
Germline

ChrX:69957124

Pathogenic/Likely pathogenic

Condition: not provided
Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Multiple Submitters
No Conflicts

CA16609205

rs_1057521131

2 SubmittersRCV000432953 RCV000822954

NM_001039570.3(KREMEN1):c.626T>C (p.Phe209Ser)

SNV
Germline

Chr22:29125411

Pathogenic

Ectodermal dysplasia 13, hair/tooth type

No Assertion Criteria Provided

CA16609282

rs_1057524917

1 SubmittersRCV000445554

NM_144991.3(TSPEAR):c.589C>T (p.Arg197Ter)

SNV
Germline

Chr21:44531087

Pathogenic/Likely pathogenic

not specified
Condition: not provided
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
Inborn genetic diseases
TSPEAR-related disorder of tooth and hair follicle morphogenesis
TSPEAR-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10056947

rs_139455627

8 SubmittersRCV000455938 RCV000760528 RCV002289583 RCV001266951 RCV000708577 RCV003418147

NM_030916.3(NECTIN4):c.1327C>T (p.Arg443Cys)

SNV
Germline

Chr1:161072867

Conflicting classifications of pathogenicity

Condition: not provided
Ectodermal dysplasia-syndactyly syndrome 1
NECTIN4-related disorder

Criteria Provided
Conflicting Classifications

CA1204817

rs_1537044

4 SubmittersRCV000481238 RCV000509115 RCV003932776

NM_022336.4(EDAR):c.1284T>G (p.Cys428Trp)

SNV
Germline

Chr2:108896970

Conflicting classifications of pathogenicity

Condition: not provided
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome

Criteria Provided
Conflicting Classifications

CA16617223

rs_886041005

2 SubmittersRCV000481594 RCV003766702

NM_025132.4(WDR19):c.2608G>A (p.Asp870Asn)

SNV
Germline

Chr4:39244515

Conflicting classifications of pathogenicity

Condition: not provided
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Cranioectodermal dysplasia 4
not specified
Asphyxiating thoracic dystrophy 5
WDR19-related disorder

Criteria Provided
Conflicting Classifications

CA2892126

rs_201963605

6 SubmittersRCV000486591 RCV001078579 RCV001146438 RCV001821402 RCV001146437 RCV004535530

NM_001399.5(EDA):c.764G>A (p.Gly255Asp)

SNV
Germline

ChrX:70030491

Likely pathogenic

Condition: not provided
Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Multiple Submitters
No Conflicts

CA16621473

rs_1064793105

3 SubmittersRCV000480945 RCV003522980

NM_001399.5(EDA):c.1144G>A (p.Ala382Thr)

SNV
Germline

ChrX:70035577

Likely pathogenic

Condition: not provided
Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Multiple Submitters
No Conflicts

CA16621477

rs_749830948

2 SubmittersRCV000480786 RCV001851133

NM_030916.3(NECTIN4):c.724G>A (p.Val242Met)

SNV
Germline

Chr1:161077459

Pathogenic

Ectodermal dysplasia-syndactyly syndrome 1

No Assertion Criteria Provided

CA343354211

rs_1085307124

1 SubmittersRCV000488417

NM_030916.3(NECTIN4):c.181C>T (p.Gln61Ter)

SNV
Germline

Chr1:161079848

Pathogenic

Ectodermal dysplasia-syndactyly syndrome 1

No Assertion Criteria Provided

CA343357994

rs_1085307125

1 SubmittersRCV000488420

NM_001399.5(EDA):c.180C>A (p.Cys60Ter)

SNV
Germline

ChrX:69616488

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

No Assertion Criteria Provided

CA413447241

rs_1131692034

1 SubmittersRCV000494692

NM_001099857.5(IKBKG):c.185G>A (p.Arg62Gln)

SNV
Germline

ChrX:154552187

Conflicting classifications of pathogenicity

Ectodermal dysplasia and immunodeficiency 1
Inborn genetic diseases
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10566450

rs_782604431

5 SubmittersRCV000615929 RCV002527122 RCV003437228 RCV004586742

NM_020779.4(WDR35):c.206G>A (p.Gly69Asp)

SNV
Germline

Chr2:19982471

Pathogenic/Likely pathogenic

Short-rib thoracic dysplasia 6 with or without polydactyly
Cranioectodermal dysplasia 2
Short-rib thoracic dysplasia 7 with or without polydactyly
Condition: not provided
WDR35-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA43388469

rs_765513105

9 SubmittersRCV000515824 RCV000591001 RCV003326443 RCV004696921 RCV005222974

NM_020779.4(WDR35):c.2964+10C>A

SNV
Germline

Chr2:19931259

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cranioectodermal dysplasia 2
Short-rib thoracic dysplasia 7 with or without polydactyly
Cranioectodermal dysplasia 2
Short-rib thoracic dysplasia 7 with or without polydactyly
WDR35-related disorder

Criteria Provided
Conflicting Classifications

CA1542797

rs_201207790

5 SubmittersRCV000500670 RCV000727423 RCV001088989 RCV001139096 RCV001139097 RCV004732908

NM_025132.4(WDR19):c.3008A>G (p.Glu1003Gly)

SNV
Germline

Chr4:39255854

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Connective tissue disorder
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Cranioectodermal dysplasia 4
Asphyxiating thoracic dystrophy 5
WDR19-related disorder
Spermatogenic failure 72
Senior-Loken syndrome 8
Cranioectodermal dysplasia 4
Asphyxiating thoracic dystrophy 5
Nephronophthisis 13

Criteria Provided
Conflicting Classifications

CA2892240

rs_201354264

8 SubmittersRCV000500098 RCV001532019 RCV002279282 RCV000951959 RCV001149215 RCV001149216 RCV004541573 RCV005398722

NM_020779.4(WDR35):c.1382G>A (p.Arg461Gln)

SNV
Germline

Chr2:19953852

Likely pathogenic

Cranioectodermal dysplasia 2

Criteria Provided
Single Submitter

CA1543248

rs_200140363

1 SubmittersRCV000504572

NM_206996.4(SPAG17):c.1069G>C (p.Asp357His)

SNV
Germline

Chr1:118093260

Likely pathogenic

Cranioectodermal dysplasia 2
Meniere disease

Criteria Provided
Single Submitter

CA1034400

rs_183758503

2 SubmittersRCV000504571 RCV004568643

NM_025132.4(WDR19):c.3308G>A (p.Arg1103Gln)

SNV
Germline

Chr4:39268041

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 4
Spermatogenic failure 72
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Nephronophthisis 13
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2892335

rs_567310076

4 SubmittersRCV002481645 RCV001227801 RCV001811019 RCV004965520

NM_020779.4(WDR35):c.3170A>G (p.Tyr1057Cys)

SNV
Germline

Chr2:19914229

Conflicting classifications of pathogenicity

not specified
Cranioectodermal dysplasia 2
Inborn genetic diseases
Cranioectodermal dysplasia 2
Short-rib thoracic dysplasia 7 with or without polydactyly

Criteria Provided
Conflicting Classifications

CA1542728

rs_541910371

5 SubmittersRCV000507380 RCV000578488 RCV001266500 RCV005027590

NM_020779.4(WDR35):c.3335A>G (p.Lys1112Arg)

SNV
Germline

Chr2:19914064

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 7 with or without polydactyly
Cranioectodermal dysplasia 2
WDR35-related disorder
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1542695

rs_138007924

4 SubmittersRCV000964762 RCV004541590 RCV005520293 RCV005230990

NM_020779.4(WDR35):c.932G>T (p.Trp311Leu)

SNV
Germline

Chr2:19969556

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
SHORT-RIB THORACIC DYSPLASIA 7 WITHOUT POLYDACTYLY
Short-rib thoracic dysplasia 7/20 with polydactyly, digenic
Short-rib thoracic dysplasia 7 with or without polydactyly
Short rib-polydactyly syndrome
Cranioectodermal dysplasia 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1543388

rs_200649783

7 SubmittersRCV000516065 RCV000578486 RCV000608080 RCV000755748 RCV000851218 RCV001353118 RCV001764511

NM_025132.4(WDR19):c.817A>G (p.Asn273Asp)

SNV
Germline

Chr4:39205663

Conflicting classifications of pathogenicity

Jeune thoracic dystrophy
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Cranioectodermal dysplasia 4
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Nephronophthisis 13
Spermatogenic failure 72

Criteria Provided
Conflicting Classifications

CA2891712

rs_375644378

4 SubmittersRCV000515807 RCV001204687 RCV002476032

NM_025132.4(WDR19):c.880G>A (p.Gly294Arg)

SNV
Germline

Chr4:39205726

Pathogenic/Likely pathogenic

Jeune thoracic dystrophy
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Cranioectodermal dysplasia 4
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Nephronophthisis 13
Spermatogenic failure 72

Criteria Provided
Multiple Submitters
No Conflicts

CA2891724

rs_377160857

4 SubmittersRCV000516052 RCV001851417 RCV005034058

NM_025132.4(WDR19):c.3716+1G>A

SNV
Germline

Chr4:39274959

Likely pathogenic

Jeune thoracic dystrophy
Cranioectodermal dysplasia 4
Asphyxiating thoracic dystrophy 5
Nephronophthisis 13
Spermatogenic failure 72
Senior-Loken syndrome 8

Criteria Provided
Single Submitter

CA356651027

rs_1191056931

3 SubmittersRCV000515837 RCV005034059

NM_022336.4(EDAR):c.903C>A (p.Cys301Ter)

SNV
Germline

Chr2:108907920

Pathogenic

Condition: not provided
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

CA1824889

rs_199544410

2 SubmittersRCV000521198 RCV002231202

NM_001099857.5(IKBKG):c.1117+5G>C

SNV
Germline

ChrX:154564025

Likely pathogenic

Condition: not provided
ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1, MALE-RESTRICTED
Incontinentia pigmenti syndrome

Criteria Provided
Single Submitter

CA658659077

rs_1557236796

2 SubmittersRCV000523987 RCV001172480 RCV001172481

NM_001399.5(EDA):c.646C>T (p.Pro216Ser)

SNV
Germline

ChrX:70027976

Conflicting classifications of pathogenicity

Condition: not provided
Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Conflicting Classifications

CA413448418

rs_1556098806

2 SubmittersRCV000521166 RCV001212052

NM_001399.5(EDA):c.998C>G (p.Thr333Arg)

SNV
Germline

ChrX:70035431

Pathogenic/Likely pathogenic

Condition: not provided
Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Multiple Submitters
No Conflicts

CA413449743

rs_1556110379

2 SubmittersRCV000524024 RCV002295301

NM_145861.4(EDARADD):c.417G>A (p.Trp139Ter)

SNV
Germline

Chr1:236482418

Pathogenic

Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive

Criteria Provided
Single Submitter

CA39702043

rs_954823206

1 SubmittersRCV000549383

NM_022336.4(EDAR):c.1132G>A (p.Ala378Thr)

SNV
Germline

Chr2:108897122

Pathogenic

Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome

Criteria Provided
Single Submitter

CA348048154

rs_1310296844

1 SubmittersRCV002231725

NM_022336.4(EDAR):c.1163T>C (p.Ile388Thr)

SNV
Germline

Chr2:108897091

Conflicting classifications of pathogenicity

Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA53464780

rs_917638291

2 SubmittersRCV000531671 RCV002307537

NM_022336.4(EDAR):c.1024+1G>A

SNV
Germline

Chr2:108906307

Pathogenic

Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome

Criteria Provided
Single Submitter

CA348050306

rs_1553444895

1 SubmittersRCV002231724

NM_022336.4(EDAR):c.43G>A (p.Val15Ile)

SNV
Germline

Chr2:108930972

Conflicting classifications of pathogenicity

Non-syndromic oligodontia
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1825249

rs_151195196

3 SubmittersRCV001261887 RCV002231728 RCV003105949

NM_020779.4(WDR35):c.1248T>G (p.Ile416Met)

SNV
Germline

Chr2:19960561

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 7 with or without polydactyly
Cranioectodermal dysplasia 2
Cranioectodermal dysplasia 2
not specified
Short-rib thoracic dysplasia 7 with or without polydactyly
Condition: not provided
WDR35-related disorder

Criteria Provided
Conflicting Classifications

CA1543288

rs_144701688

6 SubmittersRCV000552845 RCV001141934 RCV000593049 RCV001141933 RCV001570965 RCV004538037

NM_020779.4(WDR35):c.725A>G (p.Glu242Gly)

SNV
Germline

Chr2:19974479

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 7 with or without polydactyly
Cranioectodermal dysplasia 2
WDR35-related disorder

Criteria Provided
Conflicting Classifications

CA1543459

rs_139543775

3 SubmittersRCV000552925 RCV004732943

NM_003722.5(TP63):c.739C>T (p.His247Tyr)

SNV
Germline

Chr3:189864391

Pathogenic/Likely pathogenic

TP63-Related Spectrum Disorders
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA355753773

rs_1553856553

2 SubmittersRCV000559680 RCV000851194

NM_025132.4(WDR19):c.2239A>G (p.Ile747Val)

SNV
Germline

Chr4:39232258

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Cranioectodermal dysplasia 4
Asphyxiating thoracic dystrophy 5
Nephronophthisis 13
Cranioectodermal dysplasia 4
Spermatogenic failure 72
Senior-Loken syndrome 8

Criteria Provided
Conflicting Classifications

CA2892033

rs_144335584

3 SubmittersRCV000542232 RCV001150601 RCV001150602 RCV005398865

NM_001399.5(EDA):c.479G>A (p.Ser160Asn)

SNV
Germline

ChrX:69957109

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413447991

rs_1556039088

1 SubmittersRCV000559389

NM_001399.5(EDA):c.476G>C (p.Arg159Thr)

SNV
Germline

ChrX:69957106

Likely pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413447985

rs_1556039084

1 SubmittersRCV000544580

NM_001399.5(EDA):c.628G>T (p.Gly210Ter)

SNV
Germline

ChrX:70027958

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413448380

rs_1556098733

1 SubmittersRCV000536911

NM_001399.5(EDA):c.970G>A (p.Val324Met)

SNV
Germline

ChrX:70035403

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413449530

rs_1556110308

1 SubmittersRCV000555399

NM_020779.4(WDR35):c.3426G>T (p.Trp1142Cys)

SNV
Germline

Chr2:19913645

Pathogenic

Cranioectodermal dysplasia 2

No Assertion Criteria Provided

CA346230642

rs_1553313859

1 SubmittersRCV000578479

NM_020779.4(WDR35):c.1051C>G (p.Pro351Ala)

SNV
Germline

Chr2:19966867

Conflicting classifications of pathogenicity

Condition: not provided
Cranioectodermal dysplasia 2
Short-rib thoracic dysplasia 7 with or without polydactyly
Cranioectodermal dysplasia 2
Short-rib thoracic dysplasia 7 with or without polydactyly
WDR35-related disorder

Criteria Provided
Conflicting Classifications

CA1543357

rs_140753861

5 SubmittersRCV000592980 RCV001139418 RCV001370744 RCV001139419 RCV004543315

NM_020779.4(WDR35):c.1072G>A (p.Val358Ile)

SNV
Germline

Chr2:19966846

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 2
Short-rib thoracic dysplasia 7 with or without polydactyly
Short-rib thoracic dysplasia 7 with or without polydactyly
Cranioectodermal dysplasia 2
Condition: not provided
WDR35-related disorder

Criteria Provided
Conflicting Classifications

CA1543350

rs_151227688

5 SubmittersRCV001137179 RCV001137180 RCV001351694 RCV000591516 RCV004543316

NM_003722.5(TP63):c.678C>T (p.Arg226=)

SNV
Germline

Chr3:189864330

Conflicting classifications of pathogenicity

Condition: not provided
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Orofacial cleft 8
TP63-Related Spectrum Disorders
TP63-related disorder

Criteria Provided
Conflicting Classifications

CA2752226

rs_61732782

5 SubmittersRCV000592530 RCV001147522 RCV001147521 RCV001147523 RCV003915696

NM_001110219.3(GJB6):c.111G>A (p.Val37=)

SNV
Germline

Chr13:20223370

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive nonsyndromic hearing loss 1A
Hidrotic ectodermal dysplasia syndrome
Autosomal recessive nonsyndromic hearing loss 1B
Autosomal dominant nonsyndromic hearing loss 3B
GJB6-related disorder

Criteria Provided
Conflicting Classifications

CA6904508

rs_543659673

3 SubmittersRCV000593231 RCV002062028 RCV004543340

NM_022336.4(EDAR):c.529+1G>A

SNV
Germline

Chr2:108912677

Pathogenic

Ectodermal dysplasia

Criteria Provided
Single Submitter

CA348054462

rs_1553445945

1 SubmittersRCV000613299

NM_144991.3(TSPEAR):c.1528C>T (p.Arg510Ter)

SNV
Germline

Chr21:44521921

Conflicting classifications of pathogenicity

not specified
Inborn genetic diseases
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
Tooth agenesis, selective, 10
Condition: not provided
TSPEAR-related disorder

Criteria Provided
Conflicting Classifications

CA10056546

rs_201663789

8 SubmittersRCV000612980 RCV001265889 RCV002470929 RCV002470930 RCV002529302 RCV004754495

NM_144991.3(TSPEAR):c.1697A>G (p.Tyr566Cys)

SNV
Germline

Chr21:44509256

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Inborn genetic diseases
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
Autosomal recessive nonsyndromic hearing loss 98

Criteria Provided
Conflicting Classifications

CA10056416

rs_782088056

4 SubmittersRCV000612197 RCV002529321 RCV003352937 RCV002506452

NM_022336.4(EDAR):c.985A>T (p.Ile329Phe)

SNV
Germline

Chr2:108906347

Conflicting classifications of pathogenicity

Inborn genetic diseases
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant

Criteria Provided
Conflicting Classifications

CA348050488

rs_1553444917

2 SubmittersRCV000623679 RCV002533140

NM_022336.4(EDAR):c.278G>C (p.Cys93Ser)

SNV
Germline

Chr2:108929276

Pathogenic

Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive

Criteria Provided
Single Submitter

CA348115698

rs_1553448320

1 SubmittersRCV000626106

NM_014714.4(IFT140):c.2177C>T (p.Pro726Leu)

SNV
Germline

Chr16:1562007

Pathogenic

Saldino-Mainzer syndrome
Cranioectodermal dysplasia
Saldino-Mainzer syndrome

Criteria Provided
Single Submitter

CA394203209

rs_1417500285

2 SubmittersRCV000626464 RCV005260252

NM_022336.4(EDAR):c.292C>T (p.Arg98Trp)

SNV
Germline

Chr2:108929262

Pathogenic/Likely pathogenic

Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
Condition: not provided
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA54012145

rs_557166582

4 SubmittersRCV000639389 RCV001090262 RCV001253683

NM_052989.3(IFT122):c.1252G>A (p.Asp418Asn)

SNV
Germline

Chr3:129478120

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2606114

rs_148626512

4 SubmittersRCV000637014 RCV001756057 RCV004025487

NM_001399.5(EDA):c.741G>A (p.Gln247=)

SNV
Germline

ChrX:70029538

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA517012831

rs_886042183

1 SubmittersRCV000633505

NM_025132.4(WDR19):c.1623C>G (p.Tyr541Ter)

SNV
Germline

Chr4:39225027

Pathogenic

Cranioectodermal dysplasia
Spermatogenic failure 72
Asphyxiating thoracic dystrophy 5
Nephronophthisis 13
Senior-Loken syndrome 8
Cranioectodermal dysplasia 4
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8

Criteria Provided
Multiple Submitters
No Conflicts

CA2891893

rs_771148519

3 SubmittersRCV000754959 RCV002499193 RCV003106018

NM_022336.4(EDAR):c.265C>T (p.Arg89Cys)

SNV
Germline

Chr2:108929289

Pathogenic

Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant

Criteria Provided
Single Submitter

CA1825141

rs_780424781

2 SubmittersRCV000681479 RCV002531420

NM_025132.4(WDR19):c.14T>C (p.Phe5Ser)

SNV
Germline

Chr4:39185733

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Senior-Loken syndrome 8
Spermatogenic failure 72
Asphyxiating thoracic dystrophy 5
Nephronophthisis 13
Senior-Loken syndrome 8
Cranioectodermal dysplasia 4

Criteria Provided
Conflicting Classifications

CA356630223

rs_1237494778

5 SubmittersRCV000681867 RCV001074270 RCV001212612 RCV003319401 RCV005027838

NM_022336.4(EDAR):c.931G>T (p.Glu311Ter)

SNV
Germline

Chr2:108907892

Pathogenic

Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome

Criteria Provided
Single Submitter

CA348050804

rs_1432041144

1 SubmittersRCV000689707

NM_022336.4(EDAR):c.175-2A>G

SNV
Germline

Chr2:108929381

Likely pathogenic

Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome

Criteria Provided
Single Submitter

CA1825161

rs_757233170

1 SubmittersRCV002233266

NM_020779.4(WDR35):c.3345G>A (p.Leu1115=)

SNV
Germline

Chr2:19914054

Pathogenic

Short-rib thoracic dysplasia 7 with or without polydactyly
Cranioectodermal dysplasia 2
Cranioectodermal dysplasia 2

Criteria Provided
Multiple Submitters
No Conflicts

CA1542693

rs_746128772

2 SubmittersRCV000691580 RCV003333099

NM_020779.4(WDR35):c.994C>T (p.Arg332Ter)

SNV
Germline

Chr2:19969494

Pathogenic

Cranioectodermal dysplasia 2
Short-rib thoracic dysplasia 7 with or without polydactyly
WDR35-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA43422647

rs_199840434

3 SubmittersRCV000703020 RCV004733009

NM_020779.4(WDR35):c.1381C>T (p.Arg461Ter)

SNV
Germline

Chr2:19953853

Pathogenic

Short-rib thoracic dysplasia 7 with or without polydactyly
Cranioectodermal dysplasia 2

Criteria Provided
Single Submitter

CA1543249

rs_767751856

1 SubmittersRCV000693381

NM_025132.4(WDR19):c.1982+2T>C

SNV
Germline

Chr4:39228692

Likely pathogenic

Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Spermatogenic failure 72
Asphyxiating thoracic dystrophy 5
Nephronophthisis 13
Cranioectodermal dysplasia 4
Senior-Loken syndrome 8

Criteria Provided
Multiple Submitters
No Conflicts

CA2891975

rs_780847651

2 SubmittersRCV000688346 RCV005034296

NM_052989.3(IFT122):c.349+1G>A

SNV
Germline

Chr3:129461305

Likely pathogenic

Cranioectodermal dysplasia 1

Criteria Provided
Single Submitter

CA354471809

rs_1559869525

1 SubmittersRCV000705197

NM_052989.3(IFT122):c.565C>T (p.Arg189Ter)

SNV
Germline

Chr3:129466891

Pathogenic/Likely pathogenic

Cranioectodermal dysplasia 1
IFT122-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA2605923

rs_138329739

4 SubmittersRCV000705716 RCV003392543

NM_020529.3(NFKBIA):c.337-3T>C

SNV
Germline

Chr14:35403363

Conflicting classifications of pathogenicity

Ectodermal dysplasia and immunodeficiency 2

Criteria Provided
Conflicting Classifications

CA7155486

rs_756930611

2 SubmittersRCV000699568

NM_020529.3(NFKBIA):c.409C>T (p.Pro137Ser)

SNV
Germline

Chr14:35403288

Conflicting classifications of pathogenicity

Ectodermal dysplasia and immunodeficiency 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7155473

rs_147627228

2 SubmittersRCV000691977 RCV005384818

NM_001399.5(EDA):c.526+5G>A

SNV
Germline

ChrX:70023246

Likely pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA891844051

rs_397516664

1 SubmittersRCV000705031

NM_001399.5(EDA):c.527-2A>T

SNV
Germline

ChrX:70027855

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413448167

rs_1569404780

1 SubmittersRCV000689256

NM_001399.5(EDA):c.167T>A (p.Leu56Gln)

SNV
Germline

ChrX:69616475

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413447211

rs_1569272203

1 SubmittersRCV000690311

NM_001399.5(EDA):c.641T>A (p.Met214Lys)

SNV
Germline

ChrX:70027971

Likely pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413448404

rs_1569404950

1 SubmittersRCV000701321

NM_001399.5(EDA):c.986T>C (p.Phe329Ser)

SNV
Germline

ChrX:70035419

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413449661

rs_1569407150

1 SubmittersRCV000706370

NM_001399.5(EDA):c.1133C>T (p.Thr378Met)

SNV
Germline

ChrX:70035566

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413450428

rs_1569407346

1 SubmittersRCV000707398

NM_020529.3(NFKBIA):c.107C>A (p.Ser36Tyr)

SNV
Unknown

Chr14:35404538

Pathogenic

Ectodermal dysplasia and immunodeficiency 2

No Assertion Criteria Provided

CA389455297

rs_1566591076

1 SubmittersRCV000721149

NM_020529.3(NFKBIA):c.94A>G (p.Ser32Gly)

SNV
Germline

Chr14:35404551

Pathogenic

Ectodermal dysplasia and immunodeficiency 2

No Assertion Criteria Provided

CA389455326

rs_1566591086

1 SubmittersRCV000721150

NM_020529.3(NFKBIA):c.96C>G (p.Ser32Arg)

SNV
Germline

Chr14:35404549

Pathogenic

Ectodermal dysplasia and immunodeficiency 2

No Assertion Criteria Provided

CA389455321

rs_1566591082

1 SubmittersRCV000721151

NM_020529.3(NFKBIA):c.95G>A (p.Ser32Asn)

SNV
Germline

Chr14:35404550

Pathogenic

Ectodermal dysplasia and immunodeficiency 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA389455323

rs_28933100

3 SubmittersRCV000721152 RCV002067072

NM_052989.3(IFT122):c.1148-1G>C

SNV
Germline

Chr3:129478015

Pathogenic/Likely pathogenic

Condition: not provided
Cranioectodermal dysplasia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA2606097

rs_755005244

3 SubmittersRCV000728677 RCV002477685

NM_144991.3(TSPEAR):c.1423G>A (p.Gly475Ser)

SNV
Germline

Chr21:44522026

Conflicting classifications of pathogenicity

Condition: not provided
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis

Criteria Provided
Conflicting Classifications

CA10056579

rs_782056388

3 SubmittersRCV000729029 RCV002289998

NM_144991.3(TSPEAR):c.1469T>A (p.Leu490Gln)

SNV
Germline

Chr21:44521980

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive nonsyndromic hearing loss 98
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis

Criteria Provided
Conflicting Classifications

CA10056565

rs_781994662

3 SubmittersRCV000729287 RCV002493313

NM_003722.5(TP63):c.504C>T (p.Asn168=)

SNV
Germline

Chr3:189808451

Conflicting classifications of pathogenicity

Condition: not provided
TP63-Related Spectrum Disorders
Orofacial cleft 8
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3

Criteria Provided
Conflicting Classifications

CA2752155

rs_141278696

4 SubmittersRCV000730046 RCV001079102 RCV001147519 RCV001147520

NM_052989.3(IFT122):c.1526T>C (p.Val509Ala)

SNV
Germline

Chr3:129481567

Conflicting classifications of pathogenicity

Condition: not provided
Cranioectodermal dysplasia 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2606212

rs_191420441

3 SubmittersRCV000731240 RCV001432301 RCV005338338

NM_020779.4(WDR35):c.143-4T>C

SNV
Germline

Chr2:19982538

Conflicting classifications of pathogenicity

Condition: not provided
Cranioectodermal dysplasia 2
Short-rib thoracic dysplasia 7 with or without polydactyly

Criteria Provided
Conflicting Classifications

CA530850803

rs_1180620404

2 SubmittersRCV000731282 RCV002067115

NM_001102564.3(IFT43):c.296-5602T>C

SNV
Germline

Chr14:76076693

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 81
Connective tissue disorder
Cranioectodermal dysplasia 3
Short-rib thoracic dysplasia 18 with polydactyly

Criteria Provided
Conflicting Classifications

CA7280808

rs_141114765

6 SubmittersRCV000731746 RCV001197867 RCV002279505 RCV005357972

NM_144991.3(TSPEAR):c.1754G>T (p.Ser585Ile)

SNV
Germline

Chr21:44509199

Conflicting classifications of pathogenicity

Condition: not provided
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis

Criteria Provided
Conflicting Classifications

CA10056396

rs_782716325

5 SubmittersRCV000733208 RCV002470965

NM_052989.3(IFT122):c.1488+10C>T

SNV
Germline

Chr3:129479932

Conflicting classifications of pathogenicity

Condition: not provided
Cranioectodermal dysplasia 1

Criteria Provided
Conflicting Classifications

CA2606178

rs_766274915

2 SubmittersRCV000733831 RCV003768237

NM_025132.4(WDR19):c.2577G>A (p.Ala859=)

SNV
Germline

Chr4:39244484

Conflicting classifications of pathogenicity

Condition: not provided
Cranioectodermal dysplasia 4
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Asphyxiating thoracic dystrophy 5

Criteria Provided
Conflicting Classifications

CA2892119

rs_753596825

3 SubmittersRCV000756914 RCV001146435 RCV001483312 RCV001146436

NM_052989.3(IFT122):c.2017C>T (p.Arg673Ter)

SNV
Germline

Chr3:129492165

Likely pathogenic

Condition: not provided
Cranioectodermal dysplasia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA354479351

rs_1185183557

2 SubmittersRCV000760919 RCV002500985

NM_001399.5(EDA):c.161A>T (p.His54Leu)

SNV
Germline

ChrX:69616469

Likely pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413447202

rs_1569272194

1 SubmittersRCV000761232

NM_020779.4(WDR35):c.2842A>T (p.Lys948Ter)

SNV
Germline

Chr2:19931391

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 2
Cranioectodermal dysplasia 2
Short-rib thoracic dysplasia 7 with or without polydactyly

Criteria Provided
Conflicting Classifications

CA1542823

rs_749233041

2 SubmittersRCV004821291 RCV005029428

NM_025132.4(WDR19):c.641T>A (p.Leu214Ter)

SNV
Germline

Chr4:39205191

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Cranioectodermal dysplasia 4
Senior-Loken syndrome 8
Spermatogenic failure 72
Asphyxiating thoracic dystrophy 5
Nephronophthisis 13
Cranioectodermal dysplasia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA2891673

rs_751290509

9 SubmittersRCV001074152 RCV001701316 RCV001387309 RCV002225117 RCV005036110

NM_022336.4(EDAR):c.1300T>G (p.Trp434Gly)

SNV
Germline

Chr2:108896954

Pathogenic

Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive

No Assertion Criteria Provided

CA348047578

rs_773885029

1 SubmittersRCV000782364

NM_020529.3(NFKBIA):c.228-15C>T

SNV
Germline

Chr14:35403813

Conflicting classifications of pathogenicity

Ectodermal dysplasia and immunodeficiency 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7155548

rs_752721097

2 SubmittersRCV002068545 RCV000788545

NM_020779.4(WDR35):c.853A>T (p.Ile285Phe)

SNV
Germline

Chr2:19973592

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 2
Short-rib thoracic dysplasia 7 with or without polydactyly
Condition: not provided
Cranioectodermal dysplasia 2
Short-rib thoracic dysplasia 7 with or without polydactyly
Connective tissue disorder

Criteria Provided
Conflicting Classifications

CA1543420

rs_200059077

9 SubmittersRCV000818716 RCV001729713 RCV001140198 RCV001140199 RCV002279547

NM_001399.5(EDA):c.181T>A (p.Tyr61Asn)

SNV
Germline

ChrX:69616489

Likely pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413447243

rs_132630308

1 SubmittersRCV000812806

NM_001399.5(EDA):c.670G>C (p.Gly224Arg)

SNV
Germline

ChrX:70028000

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413448464

rs_1602618398

1 SubmittersRCV000822121

NM_001399.5(EDA):c.995G>A (p.Cys332Tyr)

SNV
Germline

ChrX:70035428

Likely pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413449717

rs_1602624745

1 SubmittersRCV000802915

NM_001399.5(EDA):c.706+5G>T

SNV
Germline

ChrX:70028041

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA915951154

rs_780966428

1 SubmittersRCV000810069

NM_001399.5(EDA):c.526+5G>C

SNV
Germline

ChrX:70023246

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA642453526

rs_397516664

1 SubmittersRCV000799606

NM_001323.4(CST6):c.361C>T (p.Gln121Ter)

SNV
Germline

Chr11:66012946

Pathogenic

Ectodermal dysplasia 15, hypohidrotic/hair type

No Assertion Criteria Provided

CA381317231

rs_1590674994

1 SubmittersRCV000824677

NM_020779.4(WDR35):c.3122-3T>C

SNV
Germline

Chr2:19914280

Conflicting classifications of pathogenicity

Condition: not provided
WDR35-related disorder
Cranioectodermal dysplasia 2
Short-rib thoracic dysplasia 7 with or without polydactyly

Criteria Provided
Conflicting Classifications

CA1542732

rs_751769266

4 SubmittersRCV000827170 RCV004540125 RCV001858418

NM_003722.5(TP63):c.1685T>C (p.Leu562Pro)

SNV
Germline

Chr3:189890821

Pathogenic/Likely pathogenic

Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA355758994

rs_774221257

2 SubmittersRCV000850386 RCV005253652

NM_001664.4(RHOA):c.139G>A (p.Glu47Lys)

SNV
Germline/somatic

Chr3:49375451

Pathogenic

neuro-ectodermal phenotype
Hemihypertrophy
Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA352788014

rs_1575653629

7 SubmittersRCV001095368 RCV001526536 RCV001526531 RCV001539108

NM_001399.5(EDA):c.458G>A (p.Arg153His)

SNV
Germline

ChrX:69957088

Conflicting classifications of pathogenicity

Hypohidrotic X-linked ectodermal dysplasia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10438924

rs_140642493

6 SubmittersRCV000990854 RCV002293495

NM_001399.5(EDA):c.464G>A (p.Arg155His)

SNV
Germline

ChrX:69957094

Conflicting classifications of pathogenicity

Hypohidrotic X-linked ectodermal dysplasia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10438925

rs_144403117

3 SubmittersRCV000870968 RCV003225133

NM_020779.4(WDR35):c.2573T>C (p.Val858Ala)

SNV
Germline

Chr2:19933486

Conflicting classifications of pathogenicity

Condition: not provided
Cranioectodermal dysplasia 2
Short-rib thoracic dysplasia 7 with or without polydactyly
WDR35-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1542905

rs_759587265

4 SubmittersRCV000954000 RCV001491396 RCV004543591 RCV003243382

NM_052989.3(IFT122):c.783G>A (p.Gln261=)

SNV
Germline

Chr3:129469384

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 1

Criteria Provided
Conflicting Classifications

CA2605987

rs_144727222

2 SubmittersRCV001145257

NM_003722.5(TP63):c.900G>A (p.Thr300=)

SNV
Germline

Chr3:189867850

Conflicting classifications of pathogenicity

TP63-Related Spectrum Disorders
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Orofacial cleft 8

Criteria Provided
Conflicting Classifications

CA2752295

rs_372807713

2 SubmittersRCV001146716 RCV001146717 RCV001146718

NM_025132.4(WDR19):c.1566C>T (p.Pro522=)

SNV
Germline

Chr4:39224970

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Cranioectodermal dysplasia 4
not specified

Criteria Provided
Conflicting Classifications

CA2891882

rs_200692490

3 SubmittersRCV000951175 RCV001144396 RCV001150486 RCV005436399

NM_001399.5(EDA):c.1168G>A (p.Ala390Thr)

SNV
Germline

ChrX:70035601

Conflicting classifications of pathogenicity

Hypohidrotic X-linked ectodermal dysplasia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10439059

rs_746523921

2 SubmittersRCV000949205 RCV002548240

NM_002855.5(NECTIN1):c.130G>A (p.Gly44Ser)

SNV
Germline

Chr11:119678715

Conflicting classifications of pathogenicity

Condition: not provided
Cleft lip/palate-ectodermal dysplasia syndrome
NECTIN1-related disorder

Criteria Provided
Conflicting Classifications

CA6322162

rs_137991779

4 SubmittersRCV000968953 RCV001105115 RCV003943183

NM_052989.3(IFT122):c.3051C>T (p.His1017=)

SNV
Germline

Chr3:129514452

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 1
Connective tissue disorder

Criteria Provided
Conflicting Classifications

CA2606765

rs_538635135

2 SubmittersRCV002540067 RCV002279611

NM_025132.4(WDR19):c.1366G>A (p.Glu456Lys)

SNV
Germline

Chr4:39217992

Conflicting classifications of pathogenicity

Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
WDR19-related disorder
Spermatogenic failure 72
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Nephronophthisis 13
Cranioectodermal dysplasia 4

Criteria Provided
Conflicting Classifications

CA2891835

rs_539621646

3 SubmittersRCV001460840 RCV004735860 RCV005036248

NM_002855.5(NECTIN1):c.1347C>T (p.Gly449=)

SNV
Germline

Chr11:119664954

Conflicting classifications of pathogenicity

Condition: not provided
Cleft lip/palate-ectodermal dysplasia syndrome
NECTIN1-related disorder

Criteria Provided
Conflicting Classifications

CA6321808

rs_116441631

3 SubmittersRCV000889696 RCV001106157 RCV003920739

NM_002855.5(NECTIN1):c.596G>A (p.Arg199Gln)

SNV
Germline

Chr11:119677692

Conflicting classifications of pathogenicity

Condition: not provided
Cleft lip/palate-ectodermal dysplasia syndrome
NECTIN1-related disorder

Criteria Provided
Conflicting Classifications

CA6322048

rs_78809001

4 SubmittersRCV000881422 RCV001108370 RCV003920537

NM_002855.5(NECTIN1):c.375G>A (p.Glu125=)

SNV
Germline

Chr11:119678470

Conflicting classifications of pathogenicity

Condition: not provided
Cleft lip/palate-ectodermal dysplasia syndrome
NECTIN1-related disorder

Criteria Provided
Conflicting Classifications

CA6322113

rs_146919951

3 SubmittersRCV000892473 RCV001103205 RCV003930824

NM_002855.5(NECTIN1):c.264C>T (p.Ser88=)

SNV
Germline

Chr11:119678581

Conflicting classifications of pathogenicity

Condition: not provided
Cleft lip/palate-ectodermal dysplasia syndrome
NECTIN1-related disorder

Criteria Provided
Conflicting Classifications

CA6322140

rs_7131391

3 SubmittersRCV000889697 RCV001103206 RCV003920740

NM_020779.4(WDR35):c.2267+9T>C

SNV
Germline

Chr2:19937734

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 7 with or without polydactyly
Cranioectodermal dysplasia 2
Short-rib thoracic dysplasia 7 with or without polydactyly
Cranioectodermal dysplasia 2

Criteria Provided
Conflicting Classifications

CA43398627

rs_376307803

2 SubmittersRCV001139216 RCV001139215 RCV005208623

NM_003722.5(TP63):c.84T>G (p.His28Gln)

SNV
Germline

Chr3:189737761

Conflicting classifications of pathogenicity

Orofacial cleft 8
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
TP63-Related Spectrum Disorders
8 conditions

Criteria Provided
Conflicting Classifications

CA2752022

rs_370716448

3 SubmittersRCV001144652 RCV001144653 RCV001144654 RCV005029527

NM_002855.5(NECTIN1):c.1548C>T (p.Tyr516=)

SNV
Germline

Chr11:119664753

Conflicting classifications of pathogenicity

Condition: not provided
Cleft lip/palate-ectodermal dysplasia syndrome
NECTIN1-related disorder

Criteria Provided
Conflicting Classifications

CA6321765

rs_146113849

4 SubmittersRCV000894962 RCV001105000 RCV003968176

NM_001110219.3(GJB6):c.30C>T (p.Ile10=)

SNV
Germline

Chr13:20223451

Conflicting classifications of pathogenicity

Condition: not provided
Hidrotic ectodermal dysplasia syndrome
Autosomal recessive nonsyndromic hearing loss 1A
Autosomal dominant nonsyndromic hearing loss 3B
Autosomal recessive nonsyndromic hearing loss 1B
Hidrotic ectodermal dysplasia syndrome

Criteria Provided
Conflicting Classifications

CA6904524

rs_377181573

3 SubmittersRCV000897879 RCV001112812 RCV002065645

NM_003722.5(TP63):c.992+9C>T

SNV
Germline

Chr3:189867951

Conflicting classifications of pathogenicity

Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Orofacial cleft 8
TP63-Related Spectrum Disorders

Criteria Provided
Conflicting Classifications

CA2752305

rs_369838833

2 SubmittersRCV001147613 RCV001147615 RCV001147614

NM_002855.5(NECTIN1):c.79+4A>G

SNV
Germline

Chr11:119728471

Conflicting classifications of pathogenicity

Condition: not provided
Cleft lip/palate-ectodermal dysplasia syndrome
NECTIN1-related disorder

Criteria Provided
Conflicting Classifications

CA6322191

rs_542760632

3 SubmittersRCV000906307 RCV001105116 RCV003977930

NM_020779.4(WDR35):c.761T>C (p.Met254Thr)

SNV
Germline

Chr2:19973684

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 7 with or without polydactyly
Cranioectodermal dysplasia 2
Connective tissue disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1543437

rs_547986777

3 SubmittersRCV000925439 RCV002279645 RCV005255634

NM_002855.5(NECTIN1):c.618G>A (p.Thr206=)

SNV
Germline

Chr11:119677670

Conflicting classifications of pathogenicity

Condition: not provided
Cleft lip/palate-ectodermal dysplasia syndrome

Criteria Provided
Conflicting Classifications

CA6322044

rs_146567321

2 SubmittersRCV000916266 RCV001108369

NM_002855.5(NECTIN1):c.561T>A (p.Thr187=)

SNV
Germline

Chr11:119677727

Conflicting classifications of pathogenicity

Condition: not provided
Cleft lip/palate-ectodermal dysplasia syndrome

Criteria Provided
Conflicting Classifications

CA6322059

rs_144990451

2 SubmittersRCV000921604 RCV001108372

NM_002855.5(NECTIN1):c.423G>A (p.Thr141=)

SNV
Germline

Chr11:119678422

Conflicting classifications of pathogenicity

Condition: not provided
Cleft lip/palate-ectodermal dysplasia syndrome

Criteria Provided
Conflicting Classifications

CA6322101

rs_142753103

2 SubmittersRCV000925357 RCV001103204

NM_001102564.3(IFT43):c.468C>T (p.Leu156=)

SNV
Germline

Chr14:76083250

Conflicting classifications of pathogenicity

Condition: not provided
Short-rib thoracic dysplasia 18 with polydactyly
Retinitis pigmentosa 81
Cranioectodermal dysplasia 3

Criteria Provided
Conflicting Classifications

CA7280914

rs_563086463

2 SubmittersRCV000926281 RCV005004467

NM_002855.5(NECTIN1):c.431-4G>A

SNV
Germline

Chr11:119677861

Conflicting classifications of pathogenicity

Condition: not provided
Cleft lip/palate-ectodermal dysplasia syndrome

Criteria Provided
Conflicting Classifications

CA6322079

rs_375284374

2 SubmittersRCV000923522 RCV001103201

NM_052989.3(IFT122):c.1139A>G (p.Glu380Gly)

SNV
Germline

Chr3:129476793

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2606074

rs_755060067

2 SubmittersRCV001435452 RCV002542259

NM_002855.5(NECTIN1):c.565T>C (p.Leu189=)

SNV
Germline

Chr11:119677723

Conflicting classifications of pathogenicity

Condition: not provided
Cleft lip/palate-ectodermal dysplasia syndrome

Criteria Provided
Conflicting Classifications

CA6322055

rs_140389200

2 SubmittersRCV000927966 RCV001108371

NM_025132.4(WDR19):c.1775A>G (p.Gln592Arg)

SNV
Germline

Chr4:39228355

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Cranioectodermal dysplasia 4

Criteria Provided
Conflicting Classifications

CA2891921

rs_190192706

2 SubmittersRCV000981651 RCV001146290 RCV001146291

NM_002855.5(NECTIN1):c.431-5C>T

SNV
Germline

Chr11:119677862

Conflicting classifications of pathogenicity

Condition: not provided
Cleft lip/palate-ectodermal dysplasia syndrome

Criteria Provided
Conflicting Classifications

CA6322081

rs_559278757

2 SubmittersRCV000976156 RCV001103202

NM_001664.4(RHOA):c.211C>T (p.Pro71Ser)

SNV
Somatic

Chr3:49368494

Pathogenic

Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies

No Assertion Criteria Provided

CA352786720

rs_1575647025

1 SubmittersRCV002221594

NM_025132.4(WDR19):c.1250-1G>A

SNV
Germline

Chr4:39217133

Pathogenic/Likely pathogenic

Asphyxiating thoracic dystrophy 5
Spermatogenic failure 72
Asphyxiating thoracic dystrophy 5
Nephronophthisis 13
Cranioectodermal dysplasia 4
Senior-Loken syndrome 8

Criteria Provided
Multiple Submitters
No Conflicts

CA356630606

rs_1327583103

2 SubmittersRCV000987439 RCV005036256

NM_002742.3(PRKD1):c.1316G>A (p.Arg439Gln)

SNV
Unknown

Chr14:29632945

Likely pathogenic

Congenital heart defects and ectodermal dysplasia

Criteria Provided
Single Submitter

CA389335571

rs_1439477100

1 SubmittersRCV000989200

NM_001399.5(EDA):c.1142G>A (p.Gly381Glu)

SNV
Unknown

ChrX:70035575

Likely pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413450468

rs_1602625000

1 SubmittersRCV000990857

NM_001102564.3(IFT43):c.16G>C (p.Asp6His)

SNV
Germline

Chr14:75985802

Conflicting classifications of pathogenicity

Condition: not provided
Connective tissue disorder
Cranioectodermal dysplasia 3
Short-rib thoracic dysplasia 18 with polydactyly
Retinitis pigmentosa 81
not specified

Criteria Provided
Conflicting Classifications

CA7280570

rs_201966792

6 SubmittersRCV000995218 RCV002279688 RCV002481772 RCV004629399

NM_030916.3(NECTIN4):c.229C>T (p.Gln77Ter)

SNV
Germline

Chr1:161079800

Pathogenic

Ectodermal dysplasia-syndactyly syndrome 1

Criteria Provided
Single Submitter

CA343357734

rs_1571153052

1 SubmittersRCV000995848

NM_022336.4(EDAR):c.93C>A (p.Cys31Ter)

SNV
Germline

Chr2:108930201

Pathogenic

Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive

No Assertion Criteria Provided

CA348116108

rs_749688157

1 SubmittersRCV001027975

NM_145861.4(EDARADD):c.392C>T (p.Pro131Leu)

SNV
Germline

Chr1:236482393

Conflicting classifications of pathogenicity

Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
Condition: not provided

Criteria Provided
Conflicting Classifications

CA39702020

rs_1005957166

2 SubmittersRCV001045968 RCV002284457

NM_022336.4(EDAR):c.1214G>C (p.Gly405Ala)

SNV
Germline

Chr2:108897040

Pathogenic

Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant

Criteria Provided
Single Submitter

CA348047951

rs_1696610594

1 SubmittersRCV001058350

NM_022336.4(EDAR):c.973C>T (p.Arg325Trp)

SNV
Germline

Chr2:108906359

Likely pathogenic

Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant

Criteria Provided
Single Submitter

CA1824863

rs_755654853

1 SubmittersRCV001050481

NM_020779.4(WDR35):c.2936G>A (p.Arg979Gln)

SNV
Germline

Chr2:19931297

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 2
Short-rib thoracic dysplasia 7 with or without polydactyly
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1542800

rs_138076014

3 SubmittersRCV001039598 RCV002051911 RCV002551451

NM_025132.4(WDR19):c.2362G>A (p.Ala788Thr)

SNV
Germline

Chr4:39234874

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Inborn genetic diseases
Spermatogenic failure 72
Nephronophthisis 13
Asphyxiating thoracic dystrophy 5
Cranioectodermal dysplasia 4
Senior-Loken syndrome 8

Criteria Provided
Conflicting Classifications

CA2892057

rs_768082694

3 SubmittersRCV001060443 RCV004678937 RCV005036360

NM_020529.3(NFKBIA):c.179C>T (p.Pro60Leu)

SNV
Germline

Chr14:35404466

Conflicting classifications of pathogenicity

Ectodermal dysplasia and immunodeficiency 2

Criteria Provided
Conflicting Classifications

CA7155585

rs_371482940

2 SubmittersRCV001043181

NM_001102564.3(IFT43):c.395A>T (p.Tyr132Phe)

SNV
Germline

Chr14:76082643

Conflicting classifications of pathogenicity

Condition: not provided
Cranioectodermal dysplasia 3
Short-rib thoracic dysplasia 18 with polydactyly
Retinitis pigmentosa 81
not specified

Criteria Provided
Conflicting Classifications

CA7280880

rs_201692401

4 SubmittersRCV001053275 RCV002479324 RCV004031679

NM_001399.5(EDA):c.608C>T (p.Pro203Leu)

SNV
Germline

ChrX:70027938

Likely pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413448340

rs_2020138975

1 SubmittersRCV001053348

NM_001399.5(EDA):c.610G>A (p.Gly204Arg)

SNV
Germline

ChrX:70027940

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413448342

rs_2020139065

1 SubmittersRCV001070620

NM_001399.5(EDA):c.1116C>G (p.Asn372Lys)

SNV
Germline

ChrX:70035549

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413450342

rs_2020255486

2 SubmittersRCV001040957

NM_025132.4(WDR19):c.961+2T>C

SNV
Germline

Chr4:39214673

Likely pathogenic

Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Spermatogenic failure 72
Asphyxiating thoracic dystrophy 5
Nephronophthisis 13
Cranioectodermal dysplasia 4
Senior-Loken syndrome 8

Criteria Provided
Multiple Submitters
No Conflicts

CA356636295

rs_1728876351

2 SubmittersRCV001043448 RCV002481903

NM_002855.5(NECTIN1):c.*2751G>A

SNV
Germline

Chr11:119661996

Conflicting classifications of pathogenicity

Cleft lip/palate-ectodermal dysplasia syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA229719450

rs_368910346

3 SubmittersRCV001102891 RCV003425922

NM_002855.5(NECTIN1):c.1520G>A (p.Gly507Glu)

SNV
Germline

Chr11:119664781

Conflicting classifications of pathogenicity

Cleft lip/palate-ectodermal dysplasia syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6321768

rs_202095358

2 SubmittersRCV001105001 RCV003117755

NM_002855.5(NECTIN1):c.1194C>T (p.Asn398=)

SNV
Germline

Chr11:119665107

Conflicting classifications of pathogenicity

Cleft lip/palate-ectodermal dysplasia syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6321839

rs_188936128

2 SubmittersRCV001106159 RCV005056891

NM_002855.5(NECTIN1):c.1182C>T (p.His394=)

SNV
Germline

Chr11:119665119

Conflicting classifications of pathogenicity

Cleft lip/palate-ectodermal dysplasia syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6321842

rs_761931104

2 SubmittersRCV001106160 RCV003106116

NM_002855.5(NECTIN1):c.635G>A (p.Arg212His)

SNV
Germline

Chr11:119677653

Conflicting classifications of pathogenicity

Cleft lip/palate-ectodermal dysplasia syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6322039

rs_142930935

2 SubmittersRCV001108367 RCV001470587

NM_002855.5(NECTIN1):c.629G>A (p.Arg210His)

SNV
Germline

Chr11:119677659

Conflicting classifications of pathogenicity

Cleft lip/palate-ectodermal dysplasia syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6322042

rs_142863092

2 SubmittersRCV001108368 RCV002556120

NM_002855.5(NECTIN1):c.480G>A (p.Lys160=)

SNV
Germline

Chr11:119677808

Conflicting classifications of pathogenicity

Cleft lip/palate-ectodermal dysplasia syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6322070

rs_145986556

3 SubmittersRCV001103199 RCV002555007

NM_001110219.3(GJB6):c.212T>C (p.Val71Ala)

SNV
Germline

Chr13:20223269

Conflicting classifications of pathogenicity

Hidrotic ectodermal dysplasia syndrome
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 3B
Autosomal recessive nonsyndromic hearing loss 1A
Hidrotic ectodermal dysplasia syndrome
Autosomal recessive nonsyndromic hearing loss 1B

Criteria Provided
Conflicting Classifications

CA6904492

rs_200172266

5 SubmittersRCV001110826 RCV001563386 RCV001862881

NM_020779.4(WDR35):c.3136G>C (p.Asp1046His)

SNV
Germline

Chr2:19914263

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 2
Short-rib thoracic dysplasia 7 with or without polydactyly
Cranioectodermal dysplasia 2
Short-rib thoracic dysplasia 7 with or without polydactyly

Criteria Provided
Conflicting Classifications

CA1542730

rs_200760434

2 SubmittersRCV001143423 RCV001143422 RCV002557054

NM_020779.4(WDR35):c.1260A>G (p.Pro420=)

SNV
Germline

Chr2:19953974

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 7 with or without polydactyly
Cranioectodermal dysplasia 2
WDR35-related disorder
Cranioectodermal dysplasia 2
Short-rib thoracic dysplasia 7 with or without polydactyly

Criteria Provided
Conflicting Classifications

CA1543272

rs_573958749

3 SubmittersRCV001141932 RCV001141931 RCV004545080 RCV001415310

NM_020779.4(WDR35):c.507A>G (p.Lys169=)

SNV
Germline

Chr2:19975593

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 7 with or without polydactyly
Cranioectodermal dysplasia 2
Cranioectodermal dysplasia 2
Short-rib thoracic dysplasia 7 with or without polydactyly

Criteria Provided
Conflicting Classifications

CA1543503

rs_200495720

2 SubmittersRCV001142048 RCV001142049 RCV001512911

NM_020779.4(WDR35):c.273A>G (p.Glu91=)

SNV
Germline

Chr2:19980725

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 7 with or without polydactyly
Cranioectodermal dysplasia 2
Cranioectodermal dysplasia 2
Short-rib thoracic dysplasia 7 with or without polydactyly
WDR35-related disorder

Criteria Provided
Conflicting Classifications

CA425134125

rs_1558360162

3 SubmittersRCV001137291 RCV001137292 RCV005213467 RCV004538358

NM_020779.4(WDR35):c.437-13T>C

SNV
Germline

Chr2:19975676

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 7 with or without polydactyly
Cranioectodermal dysplasia 2
Condition: not provided
Cranioectodermal dysplasia 2
Short-rib thoracic dysplasia 7 with or without polydactyly

Criteria Provided
Conflicting Classifications

CA1543523

rs_367802842

3 SubmittersRCV001137289 RCV001137290 RCV001586000 RCV002070604

NM_052989.3(IFT122):c.273-260T>C

SNV
Germline

Chr3:129460968

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 1

Criteria Provided
Conflicting Classifications

CA2605804

rs_369997431

2 SubmittersRCV001149545

NM_052989.3(IFT122):c.876C>T (p.Gly292=)

SNV
Germline

Chr3:129476374

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 1

Criteria Provided
Conflicting Classifications

CA2606018

rs_768782991

3 SubmittersRCV001145258

NM_052989.3(IFT122):c.2643C>T (p.Ala881=)

SNV
Germline

Chr3:129504414

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 1

Criteria Provided
Conflicting Classifications

CA2606595

rs_150055466

2 SubmittersRCV001149766

NM_003722.5(TP63):c.210G>C (p.Gln70His)

SNV
Germline

Chr3:189738660

Conflicting classifications of pathogenicity

Orofacial cleft 8
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
TP63-Related Spectrum Disorders
8 conditions

Criteria Provided
Conflicting Classifications

CA2752059

rs_201631366

3 SubmittersRCV001144656 RCV001144655 RCV001144657 RCV005029719

NM_003722.5(TP63):c.387G>A (p.Ser129=)

SNV
Germline

Chr3:189808334

Conflicting classifications of pathogenicity

Orofacial cleft 8
TP63-Related Spectrum Disorders
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3

Criteria Provided
Conflicting Classifications

CA2752124

rs_151335217

2 SubmittersRCV001146603 RCV001146605 RCV001146604

NM_003722.5(TP63):c.688G>C (p.Val230Leu)

SNV
Germline

Chr3:189864340

Conflicting classifications of pathogenicity

Orofacial cleft 8
TP63-Related Spectrum Disorders
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2752227

rs_201466089

3 SubmittersRCV001150859 RCV001150860 RCV001150861 RCV001354747

NM_003722.5(TP63):c.1404A>G (p.Lys468=)

SNV
Germline

Chr3:189886448

Conflicting classifications of pathogenicity

Orofacial cleft 8
TP63-Related Spectrum Disorders
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
TP63-related disorder

Criteria Provided
Conflicting Classifications

CA2752480

rs_753627633

3 SubmittersRCV001147616 RCV001147617 RCV001150947 RCV003945870

NM_003722.5(TP63):c.1465G>A (p.Ala489Thr)

SNV
Germline

Chr3:189886509

Conflicting classifications of pathogenicity

Orofacial cleft 8
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
TP63-Related Spectrum Disorders

Criteria Provided
Conflicting Classifications

CA2752489

rs_138832017

2 SubmittersRCV001150949 RCV001150948 RCV001150950

NM_003722.5(TP63):c.1761G>A (p.Leu587=)

SNV
Germline

Chr3:189894220

Conflicting classifications of pathogenicity

TP63-Related Spectrum Disorders
Orofacial cleft 8
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3

Criteria Provided
Conflicting Classifications

CA2752572

rs_573105911

2 SubmittersRCV001146824 RCV001146825 RCV001147713

NM_003722.5(TP63):c.1877T>G (p.Val626Gly)

SNV
Germline

Chr3:189894336

Conflicting classifications of pathogenicity

Orofacial cleft 8
TP63-Related Spectrum Disorders
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2752590

rs_372318389

3 SubmittersRCV001147718 RCV001147719 RCV001147717 RCV002557162

NM_025132.4(WDR19):c.822T>C (p.His274=)

SNV
Germline

Chr4:39205668

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 5
Cranioectodermal dysplasia 4
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8

Criteria Provided
Conflicting Classifications

CA2891713

rs_750215526

2 SubmittersRCV001144283 RCV001144284 RCV002070740

NM_025132.4(WDR19):c.1960G>A (p.Ala654Thr)

SNV
Germline

Chr4:39228668

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 5
Cranioectodermal dysplasia 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA95674417

rs_1024499799

2 SubmittersRCV001149088 RCV001149089 RCV004032772

NM_025132.4(WDR19):c.2386G>A (p.Ala796Thr)

SNV
Germline

Chr4:39240299

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 4
Asphyxiating thoracic dystrophy 5
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Condition: not provided
WDR19-related disorder

Criteria Provided
Conflicting Classifications

CA2892070

rs_187332731

5 SubmittersRCV001144508 RCV001144507 RCV001437182 RCV003142079 RCV004538367

NM_025132.4(WDR19):c.3042C>T (p.Ala1014=)

SNV
Germline

Chr4:39255888

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 5
Cranioectodermal dysplasia 4
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8

Criteria Provided
Conflicting Classifications

CA2892249

rs_761990492

2 SubmittersRCV001150719 RCV001150720 RCV002557249

NM_025132.4(WDR19):c.3483+11T>C

SNV
Germline

Chr4:39270111

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 5
Cranioectodermal dysplasia 4
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8

Criteria Provided
Conflicting Classifications

CA2892381

rs_766475725

2 SubmittersRCV001149320 RCV001149321 RCV001402985

NM_025132.4(WDR19):c.3484-15T>C

SNV
Germline

Chr4:39272965

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 4
Asphyxiating thoracic dystrophy 5
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8

Criteria Provided
Conflicting Classifications

CA2892396

rs_376870184

2 SubmittersRCV001149322 RCV001149323 RCV002070811

NM_001099857.5(IKBKG):c.1117+1G>A

SNV
Germline

ChrX:154564021

Pathogenic

ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1, MALE-RESTRICTED
Incontinentia pigmenti syndrome

No Assertion Criteria Provided

CA415218958

rs_2071161458

1 SubmittersRCV001172484 RCV001172485

NM_022336.4(EDAR):c.1208C>T (p.Thr403Met)

SNV
Germline

Chr2:108897046

Pathogenic

Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome

Criteria Provided
Single Submitter

CA348047975

rs_1696610832

1 SubmittersRCV001223855

NM_052989.3(IFT122):c.3031G>C (p.Ala1011Pro)

SNV
Germline

Chr3:129514432

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2606760

rs_199622112

4 SubmittersRCV001219619 RCV003233996

NM_022336.4(EDAR):c.1214G>A (p.Gly405Asp)

SNV
Germline

Chr2:108897040

Pathogenic

Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant

Criteria Provided
Single Submitter

CA348047953

rs_1696610594

1 SubmittersRCV002240938

NM_022336.4(EDAR):c.979A>T (p.Lys327Ter)

SNV
Germline

Chr2:108906353

Pathogenic

Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome

Criteria Provided
Single Submitter

CA348050516

rs_1696805876

1 SubmittersRCV001227034

NM_001399.5(EDA):c.134G>A (p.Gly45Asp)

SNV
Germline

ChrX:69616442

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413447147

rs_1931938364

1 SubmittersRCV001230087

NM_001399.5(EDA):c.1176G>C (p.Ter392Tyr)

SNV
Germline

ChrX:70035609

Conflicting classifications of pathogenicity

Hypohidrotic X-linked ectodermal dysplasia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA413450595

rs_2020256932

2 SubmittersRCV001237730 RCV003145458

NM_022336.4(EDAR):c.287T>C (p.Phe96Ser)

SNV
Germline

Chr2:108929267

Likely pathogenic

Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant

Criteria Provided
Single Submitter

CA348115678

rs_1697319420

1 SubmittersRCV001271097

NM_052989.3(IFT122):c.896G>A (p.Gly299Asp)

SNV
Germline

Chr3:129476394

Likely pathogenic

Cranioectodermal dysplasia 1

Criteria Provided
Single Submitter

CA354472559

rs_2077955754

1 SubmittersRCV001281142

NM_052989.3(IFT122):c.1532T>C (p.Leu511Pro)

SNV
Germline

Chr3:129481573

Likely pathogenic

Cranioectodermal dysplasia 1

Criteria Provided
Single Submitter

CA2606214

rs_372355939

1 SubmittersRCV001281141

NM_052989.3(IFT122):c.172T>C (p.Cys58Arg)

SNV
Germline

Chr3:129451977

Likely pathogenic

Cranioectodermal dysplasia 1

Criteria Provided
Single Submitter

CA354469411

rs_2074912574

1 SubmittersRCV001261959

NM_002855.5(NECTIN1):c.472C>T (p.Arg158Ter)

SNV
Germline

Chr11:119677816

Likely pathogenic

Cleft lip/palate-ectodermal dysplasia syndrome

No Assertion Criteria Provided

CA383282221

rs_2135551778

1 SubmittersRCV001376126

NM_144991.3(TSPEAR):c.1281G>A (p.Trp427Ter)

SNV
Germline

Chr21:44525708

Pathogenic

Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
Condition: not provided

Criteria Provided
Single Submitter

CA10056651

rs_782552484

2 SubmittersRCV001376117 RCV001823188

NM_022336.4(EDAR):c.77C>T (p.Ala26Val)

SNV
Germline

Chr2:108930217

Pathogenic/Likely pathogenic

Inborn genetic diseases
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA1825218

rs_550414401

2 SubmittersRCV001265982 RCV005360006

NM_001110219.3(GJB6):c.148G>C (p.Asp50His)

SNV
Germline

Chr13:20223333

Likely pathogenic

Inborn genetic diseases
Hidrotic ectodermal dysplasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387468745

rs_1869351345

2 SubmittersRCV001267508 RCV003985842

NM_022336.4(EDAR):c.338G>A (p.Cys113Tyr)

SNV
Germline

Chr2:108929216

Pathogenic

Oligodontia
Ectodermal dysplasia

No Assertion Criteria Provided

CA348115572

rs_1475705727

2 SubmittersRCV001267873 RCV001729830

NM_030916.3(NECTIN4):c.880C>T (p.Arg294Ter)

SNV
Germline

Chr1:161074731

Pathogenic

Ectodermal dysplasia-syndactyly syndrome 1

Criteria Provided
Single Submitter

CA343351541

rs_1653335301

1 SubmittersRCV001291629

NM_145861.4(EDARADD):c.85G>A (p.Glu29Lys)

SNV
Germline

Chr1:236409239

Pathogenic

Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive

Criteria Provided
Single Submitter

CA345653379

rs_1657345576

1 SubmittersRCV001291625

NM_145861.4(EDARADD):c.570C>A (p.Asp190Glu)

SNV
Germline

Chr1:236482571

Pathogenic

Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive

Criteria Provided
Single Submitter

CA345355146

rs_200017138

1 SubmittersRCV001291626

NM_001399.5(EDA):c.620G>A (p.Gly207Glu)

SNV
Germline

ChrX:70027950

Pathogenic/Likely pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Multiple Submitters
No Conflicts

CA413448363

rs_2020139491

2 SubmittersRCV001291628

NM_022336.4(EDAR):c.442T>C (p.Cys148Arg)

SNV
Germline

Chr2:108923368

Likely pathogenic

Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA348115263

rs_1181378221

2 SubmittersRCV001293769

NM_025132.4(WDR19):c.2464A>G (p.Ile822Val)

SNV
Germline

Chr4:39244290

Conflicting classifications of pathogenicity

Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Nephronophthisis 13
Cranioectodermal dysplasia 4
Spermatogenic failure 72

Criteria Provided
Conflicting Classifications

CA2892088

rs_138364911

2 SubmittersRCV001313901 RCV002476453

NM_001399.5(EDA):c.1152G>T (p.Arg384Ser)

SNV
Germline

ChrX:70035585

Likely pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413450503

rs_2020256386

1 SubmittersRCV001314954

NM_144991.3(TSPEAR):c.789T>G (p.Tyr263Ter)

SNV
Germline

Chr21:44529799

Pathogenic

Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
Condition: not provided
Tooth agenesis, selective, 10

Criteria Provided
Multiple Submitters
No Conflicts

CA321816127

rs_966162330

3 SubmittersRCV001331741 RCV002546503 RCV003989682

NM_025132.4(WDR19):c.3184-2A>C

SNV
Germline

Chr4:39266061

Pathogenic/Likely pathogenic

Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Renal dysplasia and retinal aplasia
Cranioectodermal dysplasia 4
Asphyxiating thoracic dystrophy 5
Nephronophthisis 13
Senior-Loken syndrome 8
Spermatogenic failure 72
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA95698821

rs_1020915921

4 SubmittersRCV001970776 RCV003324579 RCV005032046 RCV004820226

NM_020529.3(NFKBIA):c.337-20G>A

SNV
Germline

Chr14:35403380

Conflicting classifications of pathogenicity

Ectodermal dysplasia and immunodeficiency 2

Criteria Provided
Conflicting Classifications

CA7155490

rs_371120371

2 SubmittersRCV001335974

NM_022336.4(EDAR):c.1213G>C (p.Gly405Arg)

SNV
Germline

Chr2:108897041

Likely pathogenic

Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome

Criteria Provided
Single Submitter

CA348047957

rs_1696610650

1 SubmittersRCV001337468

NM_022336.4(EDAR):c.986T>G (p.Ile329Ser)

SNV
Germline

Chr2:108906346

Likely pathogenic

Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant

Criteria Provided
Single Submitter

CA348050485

rs_1696805635

1 SubmittersRCV001346616

NM_001399.5(EDA):c.924+8C>A

SNV
Germline

ChrX:70033536

Conflicting classifications of pathogenicity

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Conflicting Classifications

CA923726191

rs_370406516

3 SubmittersRCV001370663

NM_022336.4(EDAR):c.964-1G>A

SNV
Germline

Chr2:108906369

Pathogenic

Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant

Criteria Provided
Single Submitter

CA348050609

rs_2105390253

1 SubmittersRCV001389203

NM_020779.4(WDR35):c.1690C>T (p.Arg564Ter)

SNV
Germline

Chr2:19945941

Pathogenic/Likely pathogenic

Cranioectodermal dysplasia 2
Short-rib thoracic dysplasia 7 with or without polydactyly
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA1543133

rs_367810877

3 SubmittersRCV001389261 RCV002267113

NM_001399.5(EDA):c.1A>G (p.Met1Val)

SNV
Germline

ChrX:69616309

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413446827

rs_2147196982

1 SubmittersRCV001383222

NM_001399.5(EDA):c.223G>T (p.Glu75Ter)

SNV
Germline

ChrX:69616531

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413447322

rs_2147197866

1 SubmittersRCV001389869

NM_001399.5(EDA):c.632C>G (p.Thr211Arg)

SNV
Germline

ChrX:70027962

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413448388

rs_2147509853

1 SubmittersRCV001383224

NM_001399.5(EDA):c.643G>T (p.Gly215Ter)

SNV
Germline

ChrX:70027973

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413448412

rs_2147509886

1 SubmittersRCV001383223

NM_001399.5(EDA):c.801A>G (p.Ser267=)

SNV
Germline

ChrX:70033405

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413448771

rs_2147516275

1 SubmittersRCV001383225

NM_001399.5(EDA):c.1009G>T (p.Glu337Ter)

SNV
Germline

ChrX:70035442

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413449810

rs_191378148

1 SubmittersRCV001385708

NM_001399.5(EDA):c.1067C>A (p.Ala356Asp)

SNV
Germline

ChrX:70035500

Pathogenic/Likely pathogenic

Condition: not provided
Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Multiple Submitters
No Conflicts

CA413450130

rs_876657639

2 SubmittersRCV003313222 RCV001385709

NM_001102564.3(IFT43):c.201C>T (p.Ser67=)

SNV
Germline

Chr14:76022380

Conflicting classifications of pathogenicity

Condition: not provided
Connective tissue disorder
Short-rib thoracic dysplasia 18 with polydactyly
Retinitis pigmentosa 81
Cranioectodermal dysplasia 3

Criteria Provided
Conflicting Classifications

CA7280690

rs_140127543

4 SubmittersRCV001408271 RCV002276728 RCV002504682

NM_001664.4(RHOA):c.208A>G (p.Arg70Gly)

SNV
Somatic

Chr3:49368497

Likely pathogenic

Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies

Criteria Provided
Single Submitter

CA352786737

rs_1333410252

1 SubmittersRCV001526566

NM_052989.3(IFT122):c.272+1G>A

SNV
Germline

Chr3:129458678

Likely pathogenic

Cranioectodermal dysplasia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA2605756

rs_372483083

2 SubmittersRCV001535931

NM_001399.5(EDA):c.602G>A (p.Gly201Glu)

SNV
Germline

ChrX:70027932

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413448327

rs_2147509771

1 SubmittersRCV001543630

NM_001399.5(EDA):c.628G>A (p.Gly210Arg)

SNV
Germline

ChrX:70027958

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413448378

rs_1556098733

1 SubmittersRCV001543631

NM_001399.5(EDA):c.707-2A>T

SNV
Germline

ChrX:70029502

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413448546

rs_2147511696

1 SubmittersRCV001543632

NM_144991.3(TSPEAR):c.1877T>C (p.Phe626Ser)

SNV
Germline

Chr21:44499916

Conflicting classifications of pathogenicity

Condition: not provided
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
Tooth agenesis, selective, 10
TSPEAR-related disorder
Autosomal recessive nonsyndromic hearing loss 98
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
Tooth agenesis, selective, 10

Criteria Provided
Conflicting Classifications

CA10056275

rs_369010851

6 SubmittersRCV001561019 RCV004783975 RCV002472331 RCV003416393 RCV005361665

NM_001399.5(EDA):c.800C>G (p.Ser267Ter)

SNV
Germline

ChrX:70033404

Pathogenic/Likely pathogenic

Condition: not provided
Hypohidrotic X-linked ectodermal dysplasia
Tooth agenesis, selective, X-linked, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA413448768

rs_2147516267

2 SubmittersRCV001576911 RCV005040327

NM_025132.4(WDR19):c.2485C>T (p.Arg829Ter)

SNV
Germline

Chr4:39244311

Pathogenic/Likely pathogenic

Cone dystrophy
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Nephronophthisis 13
Cranioectodermal dysplasia 4
Spermatogenic failure 72
Senior-Loken syndrome 8

Criteria Provided
Multiple Submitters
No Conflicts

CA356637373

rs_775181779

3 SubmittersRCV001591895 RCV002571163 RCV002501946

NM_001399.5(EDA):c.707-13T>G

SNV
Germline

ChrX:70029491

Pathogenic

Condition: not provided
Hypohidrotic X-linked ectodermal dysplasia
EDA-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA2499226814

rs_2147511678

3 SubmittersRCV001590523 RCV001866231 RCV003399399

NM_001399.5(EDA):c.1136T>C (p.Phe379Ser)

SNV
Germline

ChrX:70035569

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

No Assertion Criteria Provided

CA413450437

rs_2147519384

1 SubmittersRCV001843310

NM_020779.4(WDR35):c.883-12T>G

SNV
Germline

Chr2:19969617

Conflicting classifications of pathogenicity

Condition: not provided
Cranioectodermal dysplasia 2
Short-rib thoracic dysplasia 7 with or without polydactyly

Criteria Provided
Conflicting Classifications

CA530856566

rs_1393592663

2 SubmittersRCV001765703 RCV003771991

NM_020779.4(WDR35):c.1744C>T (p.Arg582Ter)

SNV
Germline

Chr2:19945887

Likely pathogenic

Short-rib thoracic dysplasia 7 with or without polydactyly
Cranioectodermal dysplasia 2

Criteria Provided
Single Submitter

rs_778613849

1 SubmittersRCV005030715

NM_001102564.3(IFT43):c.328C>T (p.Gln110Ter)

SNV
Germline

Chr14:76082327

Pathogenic/Likely pathogenic

Condition: not provided
Short-rib thoracic dysplasia 18 with polydactyly
Retinitis pigmentosa 81
Cranioectodermal dysplasia 3

Criteria Provided
Multiple Submitters
No Conflicts

CA7280842

rs_201794999

4 SubmittersRCV001795715 RCV005005286

NM_052989.3(IFT122):c.3726A>G (p.Ter1242Trp)

SNV
Germline

Chr3:129520265

Pathogenic

Cranioectodermal dysplasia 1

No Assertion Criteria Provided

CA354493249

rs_2108740086

1 SubmittersRCV001797987

NM_001399.5(EDA):c.1174T>C (p.Ter392Gln)

SNV
Germline

ChrX:70035607

Likely pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413450586

rs_2147519482

1 SubmittersRCV001807899

NM_145861.4(EDARADD):c.359A>C (p.Asp120Ala)

SNV
Germline

Chr1:236482360

Likely pathogenic

Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant

Criteria Provided
Single Submitter

CA345353658

rs_2103042605

1 SubmittersRCV001807985

NM_003722.5(TP63):c.802G>A (p.Glu268Lys)

SNV
Germline

Chr3:189866717

Conflicting classifications of pathogenicity

Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
ADULT syndrome
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3

Criteria Provided
Conflicting Classifications

CA355754434

rs_2108801803

2 SubmittersRCV001808011 RCV003154197

NM_001399.5(EDA):c.798T>C (p.Leu266=)

SNV
Germline

ChrX:70033402

Conflicting classifications of pathogenicity

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Conflicting Classifications

CA517013818

rs_2147516257

2 SubmittersRCV001814652

NM_003722.5(TP63):c.1012C>T (p.Arg338Cys)

SNV
Germline

Chr3:189868599

Likely pathogenic

Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3

No Assertion Criteria Provided

CA355755128

rs_1404019220

1 SubmittersRCV001849646

NM_052989.3(IFT122):c.2668C>T (p.Arg890Ter)

SNV
Germline

Chr3:129506426

Pathogenic

Cranioectodermal dysplasia 1

Criteria Provided
Single Submitter

CA82628447

rs_1039467525

1 SubmittersRCV001867450

NM_001399.5(EDA):c.924+1G>A

SNV
Germline

ChrX:70033529

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413449079

rs_2147516572

1 SubmittersRCV001942878

NM_052989.3(IFT122):c.986C>T (p.Ala329Val)

SNV
Germline

Chr3:129476484

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2606035

rs_200915373

3 SubmittersRCV002048099 RCV004694129

NM_001399.5(EDA):c.163C>G (p.Leu55Val)

SNV
Germline

ChrX:69616471

Likely pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413447206

rs_1602221926

1 SubmittersRCV001990370

NM_001399.5(EDA):c.935T>C (p.Ile312Thr)

SNV
Germline

ChrX:70035368

Likely pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413449290

rs_1791938725

1 SubmittersRCV002030805

NM_001399.5(EDA):c.526+1G>A

SNV
Germline

ChrX:70023242

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413448160

rs_2147503858

1 SubmittersRCV001872188

NM_020779.4(WDR35):c.2415-2A>G

SNV
Germline

Chr2:19935605

Likely pathogenic

Cranioectodermal dysplasia 2
Short-rib thoracic dysplasia 7 with or without polydactyly
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA1542944

rs_143550695

3 SubmittersRCV002034331 RCV004763322

NM_001399.5(EDA):c.1045G>T (p.Ala349Ser)

SNV
Germline

ChrX:70035478

Likely pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA330952728

rs_132630317

1 SubmittersRCV001964125

NM_025132.4(WDR19):c.4014G>A (p.Thr1338=)

SNV
Germline

Chr4:39278635

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Spermatogenic failure 72
Asphyxiating thoracic dystrophy 5
Nephronophthisis 13
Cranioectodermal dysplasia 4
Senior-Loken syndrome 8

Criteria Provided
Conflicting Classifications

CA2892556

rs_763555032

2 SubmittersRCV001910564 RCV002484542

NM_001110219.3(GJB6):c.223C>T (p.Arg75Trp)

SNV
Germline

Chr13:20223258

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 1A
Hidrotic ectodermal dysplasia syndrome
Autosomal dominant nonsyndromic hearing loss 3B
Autosomal recessive nonsyndromic hearing loss 1B
Autosomal dominant nonsyndromic hearing loss 3B

Criteria Provided
Conflicting Classifications

CA387468573

rs_2137333664

2 SubmittersRCV002007632 RCV004571869

NM_020779.4(WDR35):c.3349A>G (p.Ser1117Gly)

SNV
Germline

Chr2:19914050

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 2
Short-rib thoracic dysplasia 7 with or without polydactyly
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1542692

rs_369515554

3 SubmittersRCV001903291 RCV004970439

NM_022336.4(EDAR):c.141C>G (p.Cys47Trp)

SNV
Germline

Chr2:108930153

Conflicting classifications of pathogenicity

Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA348116003

rs_1697337524

2 SubmittersRCV001903357 RCV004720966

NM_020779.4(WDR35):c.136C>T (p.Gln46Ter)

SNV
Germline

Chr2:19989171

Pathogenic/Likely pathogenic

Short-rib thoracic dysplasia 7 with or without polydactyly
Cranioectodermal dysplasia 2

Criteria Provided
Multiple Submitters
No Conflicts

CA43393246

rs_767788330

2 SubmittersRCV001972131

NM_052989.3(IFT122):c.1367G>A (p.Cys456Tyr)

SNV
Germline

Chr3:129479801

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA354475181

rs_1335391766

3 SubmittersRCV001870767 RCV004728880

NM_020779.4(WDR35):c.1662A>T (p.Gly554=)

SNV
Germline

Chr2:19945969

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 2
Short-rib thoracic dysplasia 7 with or without polydactyly

Criteria Provided
Conflicting Classifications

CA1543135

rs_767878828

2 SubmittersRCV001933721

NM_020779.4(WDR35):c.2456A>G (p.Glu819Gly)

SNV
Germline

Chr2:19935562

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 7 with or without polydactyly
Cranioectodermal dysplasia 2
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1542938

rs_139352103

3 SubmittersRCV001908051 RCV004040562 RCV002469419

NM_001399.5(EDA):c.1093G>A (p.Val365Met)

SNV
Germline

ChrX:70035526

Likely pathogenic

Hypohidrotic X-linked ectodermal dysplasia
Tooth agenesis, selective, X-linked, 1
Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Multiple Submitters
No Conflicts

CA413450241

rs_2147519270

2 SubmittersRCV002497951 RCV002002883

NM_001399.5(EDA):c.473A>G (p.Lys158Arg)

SNV
Germline

ChrX:69957103

Likely pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA330947483

rs_982209417

1 SubmittersRCV002046618

NM_001399.5(EDA):c.619G>A (p.Gly207Arg)

SNV
Germline

ChrX:70027949

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413448360

rs_2147509825

1 SubmittersRCV001949391

NM_001399.5(EDA):c.916C>T (p.Gln306Ter)

SNV
Germline

ChrX:70033520

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413449050

rs_2147516557

1 SubmittersRCV001956142

NM_001399.5(EDA):c.794-1G>A

SNV
Germline

ChrX:70033397

Likely pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413448752

rs_2147516240

1 SubmittersRCV002000768

NM_001399.5(EDA):c.896G>A (p.Gly299Asp)

SNV
Germline

ChrX:70033500

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413448973

rs_2147516523

1 SubmittersRCV001951402

NM_001399.5(EDA):c.659C>T (p.Pro220Leu)

SNV
Germline

ChrX:70027989

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413448444

rs_2147509932

1 SubmittersRCV001982885

NM_020779.4(WDR35):c.1255+1G>C

SNV
Germline

Chr2:19960553

Likely pathogenic

Short-rib thoracic dysplasia 7 with or without polydactyly
Cranioectodermal dysplasia 2

Criteria Provided
Single Submitter

CA345945775

rs_371669862

1 SubmittersRCV001975584

NM_052989.3(IFT122):c.3586C>T (p.Arg1196Cys)

SNV
Germline

Chr3:129519682

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2606969

rs_201590142

3 SubmittersRCV001863461 RCV002545764

NM_001399.5(EDA):c.958T>G (p.Tyr320Asp)

SNV
Germline

ChrX:70035391

Likely pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413449452

rs_1416551006

1 SubmittersRCV002010068

NM_001399.5(EDA):c.1048G>T (p.Gly350Cys)

SNV
Germline

ChrX:70035481

Likely pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413450051

rs_2147519167

1 SubmittersRCV002043477

NM_052989.3(IFT122):c.416+2T>G

SNV
Germline

Chr3:129463628

Likely pathogenic

Cranioectodermal dysplasia 1

Criteria Provided
Single Submitter

CA354472021

rs_2108101855

1 SubmittersRCV002023959

NM_025132.4(WDR19):c.3319C>T (p.Gln1107Ter)

SNV
Germline

Chr4:39268052

Pathogenic/Likely pathogenic

Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Spermatogenic failure 72
Asphyxiating thoracic dystrophy 5
Nephronophthisis 13
Cranioectodermal dysplasia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA356645169

rs_1401145684

2 SubmittersRCV001890451 RCV002503474

NM_022336.4(EDAR):c.1293A>G (p.Ile431Met)

SNV
Germline

Chr2:108896961

Likely pathogenic

Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant

Criteria Provided
Single Submitter

CA348047605

rs_1696608635

1 SubmittersRCV001963574

NM_025132.4(WDR19):c.164+12A>G

SNV
Germline

Chr4:39186616

Conflicting classifications of pathogenicity

Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Nephronophthisis 13
Cranioectodermal dysplasia 4
Spermatogenic failure 72

Criteria Provided
Conflicting Classifications

CA2891549

rs_776617179

2 SubmittersRCV002095120 RCV005025696

NM_020529.3(NFKBIA):c.403T>G (p.Cys135Gly)

SNV
Germline

Chr14:35403294

Conflicting classifications of pathogenicity

Ectodermal dysplasia and immunodeficiency 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA389453503

rs_2138832069

2 SubmittersRCV002195101 RCV005603759

NM_001399.5(EDA):c.717T>G (p.Asp239Glu)

SNV
Germline

ChrX:70029514

Conflicting classifications of pathogenicity

Hypohidrotic X-linked ectodermal dysplasia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10438982

rs_766810445

2 SubmittersRCV002191571 RCV003089041

NM_052989.3(IFT122):c.732C>T (p.Asp244=)

SNV
Germline

Chr3:129467058

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 1
Connective tissue disorder

Criteria Provided
Conflicting Classifications

CA2605960

rs_202074599

2 SubmittersRCV002110669 RCV002277032

NM_020529.3(NFKBIA):c.866A>G (p.Tyr289Cys)

SNV
Germline

Chr14:35402434

Conflicting classifications of pathogenicity

Ectodermal dysplasia and immunodeficiency 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA258860922

rs_957688002

2 SubmittersRCV002116015 RCV004958429

NM_052989.3(IFT122):c.849C>T (p.Pro283=)

SNV
Germline

Chr3:129476347

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 1

Criteria Provided
Conflicting Classifications

CA2606014

rs_771115196

2 SubmittersRCV002075045

NM_001399.5(EDA):c.706+1G>C

SNV
Germline

ChrX:70028037

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413448540

rs_886039344

1 SubmittersRCV002226997

NM_052989.3(IFT122):c.1493T>C (p.Leu498Pro)

SNV
Germline

Chr3:129481534

Likely pathogenic

Cranioectodermal dysplasia 1

Criteria Provided
Single Submitter

CA354475825

rs_2108328020

1 SubmittersRCV002249079

NM_025132.4(WDR19):c.2645+1G>T

SNV
Germline

Chr4:39244553

Pathogenic

Cranioectodermal dysplasia 4

No Assertion Criteria Provided

CA356638829

rs_1237821935

1 SubmittersRCV002248396

NM_002742.3(PRKD1):c.1905+2T>A

SNV
Germline

Chr14:29624150

Likely pathogenic

Congenital heart defects and ectodermal dysplasia

Criteria Provided
Single Submitter

CA389333526

rs_2139090218

1 SubmittersRCV002254370

NM_002855.5(NECTIN1):c.400C>T (p.Arg134Ter)

SNV
Germline

Chr11:119678445

Pathogenic

Cleft lip/palate-ectodermal dysplasia syndrome

No Assertion Criteria Provided

CA6322108

rs_769476648

1 SubmittersRCV002267572

NM_052989.3(IFT122):c.2988-6C>T

SNV
Germline

Chr3:129514383

Conflicting classifications of pathogenicity

Connective tissue disorder
Cranioectodermal dysplasia 1

Criteria Provided
Conflicting Classifications

CA2606741

rs_749670705

2 SubmittersRCV002278761 RCV003611575

NM_001399.5(EDA):c.837G>A (p.Met279Ile)

SNV
Germline

ChrX:70033441

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413448846

rs_2520343206

1 SubmittersRCV002280809

NM_022336.4(EDAR):c.1292T>C (p.Ile431Thr)

SNV
Germline

Chr2:108896962

Pathogenic

Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome

Criteria Provided
Single Submitter

CA348047607

rs_1696608702

1 SubmittersRCV002294927

NM_022336.4(EDAR):c.1282T>C (p.Cys428Arg)

SNV
Germline

Chr2:108896972

Pathogenic/Likely pathogenic

Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA348047651

rs_2470612697

2 SubmittersRCV002299214 RCV004697208

NM_002224.4(ITPR3):c.7570C>T (p.Arg2524Cys)

SNV
Germline

Chr6:33692839

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease, demyelinating, type 1J
IMMUNODEFICIENCY 133 WITH ECTODERMAL DYSPLASIA WITH OR WITHOUT PERIPHERAL NEUROPATHY
ITPR3-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA363715812

rs_2533186607

6 SubmittersRCV002305678 RCV005603764 RCV003408224 RCV003330107

NM_144991.3(TSPEAR):c.1423G>C (p.Gly475Arg)

SNV
Germline

Chr21:44522026

Pathogenic

Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis

No Assertion Criteria Provided

CA410437180

rs_782056388

1 SubmittersRCV002464051

NM_020779.4(WDR35):c.570+2T>G

SNV
Germline

Chr2:19975528

Likely pathogenic

Cranioectodermal dysplasia 2
Short-rib thoracic dysplasia 7 with or without polydactyly

Criteria Provided
Single Submitter

CA345947435

rs_2527956878

1 SubmittersRCV003052838

NM_001399.5(EDA):c.58C>T (p.Arg20Ter)

SNV
Germline

ChrX:69616366

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413446991

rs_2519669835

1 SubmittersRCV003064733

NM_001399.5(EDA):c.836T>G (p.Met279Arg)

SNV
Germline

ChrX:70033440

Likely pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413448844

rs_2520343200

1 SubmittersRCV003064734

NM_001399.5(EDA):c.917A>C (p.Gln306Pro)

SNV
Germline

ChrX:70033521

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413449053

rs_727503009

1 SubmittersRCV003050618

NM_001399.5(EDA):c.1091T>C (p.Met364Thr)

SNV
Germline

ChrX:70035524

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA10439049

rs_764146823

1 SubmittersRCV003064735

NM_001399.5(EDA):c.1119G>A (p.Met373Ile)

SNV
Germline

ChrX:70035552

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413450356

rs_2520347265

1 SubmittersRCV003050619

NM_020529.3(NFKBIA):c.509C>T (p.Pro170Leu)

SNV
Germline

Chr14:35403188

Conflicting classifications of pathogenicity

Ectodermal dysplasia and immunodeficiency 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7155452

rs_770933211

2 SubmittersRCV003053224 RCV004070322

NM_052989.3(IFT122):c.1198C>T (p.Arg400Ter)

SNV
Germline

Chr3:129478066

Pathogenic

Cranioectodermal dysplasia 1

Criteria Provided
Single Submitter

CA2606105

rs_369346055

1 SubmittersRCV003075682

NM_152365.3(KDF1):c.418C>A (p.Arg140Ser)

SNV
Germline

Chr1:26951963

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type

Criteria Provided
Conflicting Classifications

CA710314

rs_368075916

3 SubmittersRCV002587950 RCV004073399 RCV005399118

NM_052989.3(IFT122):c.1892A>G (p.Lys631Arg)

SNV
Germline

Chr3:129488297

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA354478215

rs_2079566319

2 SubmittersRCV002603716 RCV005587352

NM_022336.4(EDAR):c.850G>A (p.Val284Ile)

SNV
Germline

Chr2:108907973

Conflicting classifications of pathogenicity

Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1824902

rs_138052931

2 SubmittersRCV002612492 RCV002637115

NM_022336.4(EDAR):c.73C>T (p.Arg25Ter)

SNV
Germline

Chr2:108930221

Pathogenic

Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant

Criteria Provided
Single Submitter

CA1825220

rs_773132518

1 SubmittersRCV002664250

NM_001399.5(EDA):c.826C>G (p.Arg276Gly)

SNV
Germline

ChrX:70033430

Likely pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413448825

rs_387907197

1 SubmittersRCV003111851

NM_052989.3(IFT122):c.2313C>A (p.Tyr771Ter)

SNV
Germline

Chr3:129500006

Pathogenic/Likely pathogenic

Cranioectodermal dysplasia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA2606470

rs_770590297

2 SubmittersRCV002574933

NM_020529.3(NFKBIA):c.532G>A (p.Ala178Thr)

SNV
Germline

Chr14:35403165

Conflicting classifications of pathogenicity

Inborn genetic diseases
Ectodermal dysplasia and immunodeficiency 2

Criteria Provided
Conflicting Classifications

CA258861689

rs_1034704889

2 SubmittersRCV002584064 RCV002584065

NM_001399.5(EDA):c.871G>C (p.Gly291Arg)

SNV
Germline

ChrX:70033475

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413448923

rs_397516677

1 SubmittersRCV002601900

NM_003722.5(TP63):c.679G>A (p.Ala227Thr)

SNV
Germline

Chr3:189864331

Conflicting classifications of pathogenicity

TP63-Related Spectrum Disorders
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3

Criteria Provided
Conflicting Classifications

CA355753557

rs_1717421668

2 SubmittersRCV002634444 RCV003314740

NM_052989.3(IFT122):c.3013C>T (p.Gln1005Ter)

SNV
Germline

Chr3:129514414

Pathogenic

Cranioectodermal dysplasia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA2606752

rs_746129224

2 SubmittersRCV002635923

NM_002742.3(PRKD1):c.1808G>A (p.Arg603His)

SNV
Germline

Chr14:29624249

Conflicting classifications of pathogenicity

Condition: not provided
Congenital heart defects and ectodermal dysplasia

Criteria Provided
Conflicting Classifications

CA7141037

rs_776034417

3 SubmittersRCV002632140 RCV003134464

NM_025132.4(WDR19):c.3483+19C>G

SNV
Germline

Chr4:39270119

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Spermatogenic failure 72
Asphyxiating thoracic dystrophy 5
Nephronophthisis 13
Cranioectodermal dysplasia 4
Senior-Loken syndrome 8

Criteria Provided
Conflicting Classifications

CA2892383

rs_759783486

2 SubmittersRCV002725522 RCV005034376

NM_001399.5(EDA):c.904T>C (p.Phe302Leu)

SNV
Germline

ChrX:70033508

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413448998

rs_2520343480

1 SubmittersRCV002746329

NM_020779.4(WDR35):c.2701G>T (p.Glu901Ter)

SNV
Germline

Chr2:19932405

Pathogenic

Short-rib thoracic dysplasia 7 with or without polydactyly
Cranioectodermal dysplasia 2

Criteria Provided
Single Submitter

CA345942376

rs_1348813250

1 SubmittersRCV002775068

NM_001399.5(EDA):c.928T>G (p.Tyr310Asp)

SNV
Germline

ChrX:70035361

Likely pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413449228

rs_2520346450

1 SubmittersRCV002843238

NM_052989.3(IFT122):c.3180C>A (p.Cys1060Ter)

SNV
Germline

Chr3:129515514

Pathogenic

Cranioectodermal dysplasia 1

Criteria Provided
Single Submitter

CA354487784

rs_764222986

1 SubmittersRCV002850900

NM_001399.5(EDA):c.872G>T (p.Gly291Val)

SNV
Germline

ChrX:70033476

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413448926

rs_886042021

1 SubmittersRCV002834901

NM_022336.4(EDAR):c.1208C>G (p.Thr403Arg)

SNV
Germline

Chr2:108897046

Likely pathogenic

Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome

Criteria Provided
Single Submitter

CA348047979

rs_1696610832

1 SubmittersRCV002862652

NM_052989.3(IFT122):c.3520C>T (p.Arg1174Cys)

SNV
Germline

Chr3:129519616

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2606954

rs_181318594

3 SubmittersRCV002886172 RCV004593092

NM_001399.5(EDA):c.658C>G (p.Pro220Ala)

SNV
Germline

ChrX:70027988

Likely pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413448440

rs_1208076212

1 SubmittersRCV002933311

NM_020779.4(WDR35):c.1525-2A>T

SNV
Germline

Chr2:19946572

Likely pathogenic

Cranioectodermal dysplasia 2
Short-rib thoracic dysplasia 7 with or without polydactyly

Criteria Provided
Single Submitter

CA345945146

rs_1486662314

1 SubmittersRCV002942392

NM_022336.4(EDAR):c.1297G>T (p.Glu433Ter)

SNV
Germline

Chr2:108896957

Pathogenic

Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant

Criteria Provided
Single Submitter

CA348047592

rs_2470612633

1 SubmittersRCV002932627

NM_025132.4(WDR19):c.1400G>A (p.Arg467Gln)

SNV
Germline

Chr4:39218026

Conflicting classifications of pathogenicity

Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Nephronophthisis 13
Cranioectodermal dysplasia 4
Spermatogenic failure 72
Senior-Loken syndrome 8

Criteria Provided
Conflicting Classifications

CA2891840

rs_199991653

2 SubmittersRCV002953227 RCV005034509

NM_001399.5(EDA):c.611G>A (p.Gly204Glu)

SNV
Germline

ChrX:70027941

Likely pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413448345

rs_2520334969

1 SubmittersRCV002971884

NM_052989.3(IFT122):c.3553C>T (p.Arg1185Ter)

SNV
Germline

Chr3:129519649

Pathogenic/Likely pathogenic

Cranioectodermal dysplasia 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA82640168

rs_905675504

2 SubmittersRCV002944096 RCV004779389

NM_020529.3(NFKBIA):c.506C>T (p.Thr169Ile)

SNV
Germline

Chr14:35403191

Conflicting classifications of pathogenicity

Ectodermal dysplasia and immunodeficiency 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7155453

rs_151228045

3 SubmittersRCV003002807 RCV005375237

NM_052989.3(IFT122):c.356G>A (p.Trp119Ter)

SNV
Germline

Chr3:129463566

Pathogenic/Likely pathogenic

Cranioectodermal dysplasia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA354471871

rs_1300189424

2 SubmittersRCV003030742

NM_001399.5(EDA):c.959A>C (p.Tyr320Ser)

SNV
Germline

ChrX:70035392

Likely pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413449455

rs_2520346616

1 SubmittersRCV003010168

NM_001399.5(EDA):c.805G>A (p.Gly269Arg)

SNV
Germline

ChrX:70033409

Likely pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413448778

rs_2520343039

1 SubmittersRCV003019308

NM_001399.5(EDA):c.1036T>C (p.Cys346Arg)

SNV
Germline

ChrX:70035469

Likely pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413449986

rs_2520346963

1 SubmittersRCV003031527

NM_001399.5(EDA):c.1119G>T (p.Met373Ile)

SNV
Germline

ChrX:70035552

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413450360

rs_2520347265

1 SubmittersRCV003054113

NM_003722.5(TP63):c.925A>G (p.Asn309Asp)

SNV
Germline

Chr3:189867875

Likely pathogenic

Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3

Criteria Provided
Single Submitter

CA355754930

rs_2474609100

1 SubmittersRCV003315466

NM_020779.4(WDR35):c.2789A>G (p.Asn930Ser)

SNV
Germline

Chr2:19932317

Conflicting classifications of pathogenicity

Inborn genetic diseases
Short-rib thoracic dysplasia 7 with or without polydactyly
Cranioectodermal dysplasia 2

Criteria Provided
Conflicting Classifications

CA1542842

rs_745864564

2 SubmittersRCV002865660 RCV005028376

NM_145861.4(EDARADD):c.469G>A (p.Glu157Lys)

SNV
Germline

Chr1:236482470

Pathogenic

Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive

No Assertion Criteria Provided

CA345354235

rs_2526927321

1 SubmittersRCV003238157

NM_001399.5(EDA):c.760C>T (p.Gln254Ter)

SNV
Germline

ChrX:70030487

Conflicting classifications of pathogenicity

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Conflicting Classifications

CA413448672

rs_2520339340

3 SubmittersRCV003326689

NM_025132.4(WDR19):c.2887C>T (p.Gln963Ter)

SNV
Germline

Chr4:39253916

Likely pathogenic

Cranioectodermal dysplasia 4

Criteria Provided
Single Submitter

CA356641737

rs_1460409474

1 SubmittersRCV003234977

NM_020529.3(NFKBIA):c.28G>T (p.Glu10Ter)

SNV
Germline

Chr14:35404617

Pathogenic

Ectodermal dysplasia and immunodeficiency 2

Criteria Provided
Single Submitter

CA389455473

rs_2502188897

1 SubmittersRCV003325300

NM_001399.5(EDA):c.706G>A (p.Gly236Ser)

SNV
Germline

ChrX:70028036

Likely pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413448536

rs_2520335334

1 SubmittersRCV003327319

NM_020529.3(NFKBIA):c.101T>C (p.Leu34Pro)

SNV
Germline

Chr14:35404544

Pathogenic

Ectodermal dysplasia and immunodeficiency 2

No Assertion Criteria Provided

CA389455312

rs_2502188602

1 SubmittersRCV003330336

NM_001399.5(EDA):c.178T>C (p.Cys60Arg)

SNV
Germline

ChrX:69616486

Likely pathogenic

Hypohidrotic X-linked ectodermal dysplasia

No Assertion Criteria Provided

CA413447236

rs_2519670387

1 SubmittersRCV003388286

NM_001399.5(EDA):c.397-1G>C

SNV
Germline

ChrX:69957026

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413447806

rs_2520242345

1 SubmittersRCV003523997

NM_001399.5(EDA):c.28G>T (p.Glu10Ter)

SNV
Germline

ChrX:69616336

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413446933

rs_754851778

1 SubmittersRCV003524136

NM_052989.3(IFT122):c.2792-14G>A

SNV
Germline

Chr3:129507654

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 1

Criteria Provided
Conflicting Classifications

CA2606658

rs_763562701

2 SubmittersRCV003504516

NM_001399.5(EDA):c.2T>G (p.Met1Arg)

SNV
Germline

ChrX:69616310

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413446835

rs_397516659

1 SubmittersRCV003523382

NM_001399.5(EDA):c.170C>G (p.Thr57Arg)

SNV
Germline

ChrX:69616478

Likely pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413447218

rs_1931942632

1 SubmittersRCV003523384

NM_001399.5(EDA):c.662G>A (p.Gly221Asp)

SNV
Germline

ChrX:70027992

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413448448

rs_2520335192

1 SubmittersRCV003523385

NM_001399.5(EDA):c.948C>G (p.Asp316Glu)

SNV
Germline

ChrX:70035381

Likely pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413449376

rs_758429613

1 SubmittersRCV003523386

NM_052989.3(IFT122):c.1488+16C>T

SNV
Germline

Chr3:129479938

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 1

Criteria Provided
Conflicting Classifications

CA2606179

rs_371107052

2 SubmittersRCV003503244

NM_052989.3(IFT122):c.273-257C>A

SNV
Germline

Chr3:129460971

Pathogenic

Cranioectodermal dysplasia 1

Criteria Provided
Single Submitter

CA82657157

rs_951629848

1 SubmittersRCV003503122

NM_001399.5(EDA):c.1029C>G (p.Tyr343Ter)

SNV
Germline

ChrX:70035462

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413449944

rs_2520346923

1 SubmittersRCV003522713

NM_001399.5(EDA):c.924+4A>T

SNV
Germline

ChrX:70033532

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA2697553147

rs_2520343545

1 SubmittersRCV003522618

NM_001399.5(EDA):c.1066G>A (p.Ala356Thr)

SNV
Germline

ChrX:70035499

Likely pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413450125

rs_2520347019

1 SubmittersRCV003522745

NM_052989.3(IFT122):c.3575G>A (p.Trp1192Ter)

SNV
Germline

Chr3:129519671

Pathogenic

Cranioectodermal dysplasia 1

Criteria Provided
Single Submitter

CA354492129

rs_2532968237

1 SubmittersRCV003612484

NM_001399.5(EDA):c.1012A>G (p.Thr338Ala)

SNV
Germline

ChrX:70035445

Likely pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413449826

rs_2520346836

1 SubmittersRCV003639696

NM_001399.5(EDA):c.958T>C (p.Tyr320His)

SNV
Germline

ChrX:70035391

Likely pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413449449

rs_1416551006

1 SubmittersRCV003639749

NM_001399.5(EDA):c.895G>T (p.Gly299Cys)

SNV
Germline

ChrX:70033499

Likely pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413448972

rs_397516679

1 SubmittersRCV003639680

NM_001399.5(EDA):c.644G>A (p.Gly215Glu)

SNV
Germline

ChrX:70027974

Likely pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413448415

rs_2520335121

1 SubmittersRCV003639687

NM_052989.3(IFT122):c.982C>T (p.Gln328Ter)

SNV
Germline

Chr3:129476480

Pathogenic

Cranioectodermal dysplasia 1

Criteria Provided
Single Submitter

CA354472901

rs_1377926916

1 SubmittersRCV003612768

NM_001399.5(EDA):c.397-2A>T

SNV
Germline

ChrX:69957025

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413447804

rs_2520242340

1 SubmittersRCV003639871

NM_001399.5(EDA):c.565G>A (p.Gly189Arg)

SNV
Germline

ChrX:70027895

Likely pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413448253

rs_2520334697

1 SubmittersRCV003640039

NM_001399.5(EDA):c.625C>T (p.Pro209Ser)

SNV
Germline

ChrX:70027955

Likely pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413448374

rs_2520335042

1 SubmittersRCV003640272

NM_052989.3(IFT122):c.1852-8T>C

SNV
Germline

Chr3:129488249

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 1

Criteria Provided
Conflicting Classifications

CA2606335

rs_367654095

2 SubmittersRCV003611242

NM_052989.3(IFT122):c.567A>G (p.Arg189=)

SNV
Germline

Chr3:129466893

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 1

Criteria Provided
Conflicting Classifications

CA2605925

rs_775245806

2 SubmittersRCV003611357

NM_052989.3(IFT122):c.2559G>A (p.Leu853=)

SNV
Germline

Chr3:129504330

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 1

Criteria Provided
Conflicting Classifications

CA82627915

rs_897658448

2 SubmittersRCV003611428

NM_052989.3(IFT122):c.1141C>T (p.Gln381Ter)

SNV
Germline

Chr3:129476795

Pathogenic

Cranioectodermal dysplasia 1

Criteria Provided
Single Submitter

CA354473266

rs_2077995074

1 SubmittersRCV003612354

NM_020779.4(WDR35):c.498G>A (p.Ala166=)

SNV
Germline

Chr2:19975602

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 2
Short-rib thoracic dysplasia 7 with or without polydactyly

Criteria Provided
Conflicting Classifications

CA1543506

rs_150578416

2 SubmittersRCV003783421

NM_022336.4(EDAR):c.1205G>A (p.Ser402Asn)

SNV
Germline

Chr2:108897049

Likely pathogenic

Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome

Criteria Provided
Single Submitter

CA348047994

rs_1431108613

1 SubmittersRCV003787927

NM_022336.4(EDAR):c.1135G>A (p.Glu379Lys)

SNV
Germline

Chr2:108897119

Conflicting classifications of pathogenicity

Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1824812

rs_770369940

2 SubmittersRCV003806765 RCV004719393

NM_020779.4(WDR35):c.1554C>G (p.Tyr518Ter)

SNV
Germline

Chr2:19946541

Pathogenic

Cranioectodermal dysplasia 2
Short-rib thoracic dysplasia 7 with or without polydactyly

Criteria Provided
Single Submitter

CA345945083

rs_2527882862

1 SubmittersRCV003797219

NM_020779.4(WDR35):c.1194+18T>G

SNV
Germline

Chr2:19966706

Conflicting classifications of pathogenicity

Cranioectodermal dysplasia 2
Short-rib thoracic dysplasia 7 with or without polydactyly

Criteria Provided
Conflicting Classifications

CA1543321

rs_534362725

2 SubmittersRCV003808744

NM_001006657.2(WDR35):c.1195-2A>T

SNV
Germline

Chr2:19962329

Likely pathogenic

Cranioectodermal dysplasia 2
Short-rib thoracic dysplasia 7 with or without polydactyly

Criteria Provided
Single Submitter

CA345945995

rs_2527924479

1 SubmittersRCV003801907

NM_022336.4(EDAR):c.1218C>G (p.Tyr406Ter)

SNV
Germline

Chr2:108897036

Pathogenic

Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome

Criteria Provided
Single Submitter

CA348047933

rs_2470612948

1 SubmittersRCV003817706

NM_022336.4(EDAR):c.1024+2T>C

SNV
Germline

Chr2:108906306

Pathogenic

Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome

Criteria Provided
Single Submitter

CA348050301

rs_1574368295

1 SubmittersRCV003809489

NM_020779.4(WDR35):c.1322G>A (p.Trp441Ter)

SNV
Germline

Chr2:19953912

Pathogenic

Cranioectodermal dysplasia 2
Short-rib thoracic dysplasia 7 with or without polydactyly

Criteria Provided
Single Submitter

CA345945624

rs_2527903495

1 SubmittersRCV003809561

NM_022336.4(EDAR):c.1280T>C (p.Leu427Ser)

SNV
Germline

Chr2:108896974

Pathogenic

Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome

Criteria Provided
Single Submitter

CA348047660

rs_2470612710

1 SubmittersRCV003807500

NM_020779.4(WDR35):c.1609C>T (p.Gln537Ter)

SNV
Germline

Chr2:19946486

Pathogenic

Cranioectodermal dysplasia 2
Short-rib thoracic dysplasia 7 with or without polydactyly

Criteria Provided
Single Submitter

CA345944966

rs_1416766008

1 SubmittersRCV003812543

NM_001399.5(EDA):c.986T>G (p.Phe329Cys)

SNV
Germline

ChrX:70035419

Likely pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

CA413449664

rs_1569407150

1 SubmittersRCV003815863

NM_001102564.3(IFT43):c.369-11C>A

SNV
Germline

Chr14:76082606

Conflicting classifications of pathogenicity

Condition: not provided
Short-rib thoracic dysplasia 18 with polydactyly
Retinitis pigmentosa 81
Cranioectodermal dysplasia 3

Criteria Provided
Conflicting Classifications

CA615074063

rs_1566740420

2 SubmittersRCV003816861 RCV005003725

NM_002855.5(NECTIN1):c.226C>T (p.Gln76Ter)

SNV
Germline

Chr11:119678619

Likely pathogenic

Cleft lip/palate-ectodermal dysplasia syndrome

Criteria Provided
Single Submitter

CA383282747

rs_778591472

1 SubmittersRCV003984996

NM_002742.3(PRKD1):c.265-1G>T

SNV
Germline

Chr14:29725675

Likely pathogenic

Congenital heart defects and ectodermal dysplasia

Criteria Provided
Single Submitter

CA389478025

rs_2502849610

1 SubmittersRCV003988983

NM_020779.4(WDR35):c.2175A>C (p.Lys725Asn)

SNV
Germline

Chr2:19937835

Conflicting classifications of pathogenicity

Inborn genetic diseases
Short-rib thoracic dysplasia 7 with or without polydactyly
Cranioectodermal dysplasia 2

Criteria Provided
Conflicting Classifications

CA43398795

rs_747667789

2 SubmittersRCV004478341 RCV005023543

NM_001399.5(EDA):c.599C>T (p.Pro200Leu)

SNV
Germline

ChrX:70027929

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

No Assertion Criteria Provided

1 SubmittersRCV005052087

NM_001399.5(EDA):c.769G>A (p.Gly257Arg)

SNV
Germline

ChrX:70030496

Likely pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

1 SubmittersRCV004699003

NM_052989.3(IFT122):c.3265+1G>A

SNV
Germline

Chr3:129515600

Pathogenic/Likely pathogenic

Condition: not provided
Cranioectodermal dysplasia 1

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV004725920 RCV005023661

NM_001399.5(EDA):c.167T>C (p.Leu56Pro)

SNV
Germline

ChrX:69616475

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia
Anhidrotic ectodermal dysplasia

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004788352 RCV005407347

NM_022336.4(EDAR):c.1273G>T (p.Glu425Ter)

SNV
Germline

Chr2:108896981

Likely pathogenic

Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant

Criteria Provided
Single Submitter

1 SubmittersRCV004789734

NM_022336.4(EDAR):c.1271T>G (p.Val424Gly)

SNV
Germline

Chr2:108896983

Likely pathogenic

Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant

Criteria Provided
Single Submitter

1 SubmittersRCV004794723

NM_052989.3(IFT122):c.1044C>A (p.Tyr348Ter)

SNV
Germline

Chr3:129476698

Likely pathogenic

Cranioectodermal dysplasia 1

Criteria Provided
Single Submitter

1 SubmittersRCV004797169

NM_025132.4(WDR19):c.1484G>A (p.Gly495Asp)

SNV
Germline

Chr4:39224888

Likely pathogenic

Spermatogenic failure 72
Asphyxiating thoracic dystrophy 5
Nephronophthisis 13
Cranioectodermal dysplasia 4
Senior-Loken syndrome 8

Criteria Provided
Single Submitter

1 SubmittersRCV004795513

NM_022336.4(EDAR):c.730+1G>T

SNV
Germline

Chr2:108910775

Pathogenic

Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004819268

NM_030916.3(NECTIN4):c.1516C>T (p.Arg506Trp)

SNV
Germline

Chr1:161072678

Likely pathogenic

Ectodermal dysplasia-syndactyly syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV004821059

NM_001399.5(EDA):c.146T>C (p.Leu49Pro)

SNV
Germline

ChrX:69616454

Likely pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

1 SubmittersRCV004821102

NM_001102564.3(IFT43):c.20T>A (p.Leu7Ter)

SNV
Germline

Chr14:75985806

Likely pathogenic

Retinitis pigmentosa 81
Short-rib thoracic dysplasia 18 with polydactyly
Cranioectodermal dysplasia 3

Criteria Provided
Single Submitter

1 SubmittersRCV005005708

NM_001102564.3(IFT43):c.164T>A (p.Leu55Ter)

SNV
Germline

Chr14:76022343

Likely pathogenic

Retinitis pigmentosa 81
Short-rib thoracic dysplasia 18 with polydactyly
Cranioectodermal dysplasia 3

Criteria Provided
Single Submitter

1 SubmittersRCV005009279

NM_001102564.3(IFT43):c.175C>T (p.Arg59Ter)

SNV
Germline

Chr14:76022354

Likely pathogenic

Retinitis pigmentosa 81
Short-rib thoracic dysplasia 18 with polydactyly
Cranioectodermal dysplasia 3

Criteria Provided
Single Submitter

1 SubmittersRCV005009280

NM_001102564.3(IFT43):c.368+1G>A

SNV
Germline

Chr14:76082368

Likely pathogenic

Retinitis pigmentosa 81
Short-rib thoracic dysplasia 18 with polydactyly
Cranioectodermal dysplasia 3

Criteria Provided
Single Submitter

1 SubmittersRCV005009283

NM_145861.4(EDARADD):c.61+1G>C

SNV
Germline

Chr1:236394506

Likely pathogenic

Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive

Criteria Provided
Single Submitter

1 SubmittersRCV005018026

NM_020779.4(WDR35):c.308-1G>T

SNV
Germline

Chr2:19978880

Likely pathogenic

Short-rib thoracic dysplasia 7 with or without polydactyly
Cranioectodermal dysplasia 2

Criteria Provided
Single Submitter

1 SubmittersRCV005030748

NM_020779.4(WDR35):c.24+2T>C

SNV
Germline

Chr2:19989990

Likely pathogenic

Short-rib thoracic dysplasia 7 with or without polydactyly
Cranioectodermal dysplasia 2

Criteria Provided
Single Submitter

1 SubmittersRCV005018411

NM_025132.4(WDR19):c.98+1G>A

SNV
Germline

Chr4:39185818

Likely pathogenic

Senior-Loken syndrome 8
Cranioectodermal dysplasia 4
Asphyxiating thoracic dystrophy 5
Spermatogenic failure 72
Nephronophthisis 13

Criteria Provided
Single Submitter

1 SubmittersRCV005027331

NM_025132.4(WDR19):c.186G>A (p.Trp62Ter)

SNV
Germline

Chr4:39189677

Likely pathogenic

Senior-Loken syndrome 8
Cranioectodermal dysplasia 4
Asphyxiating thoracic dystrophy 5
Spermatogenic failure 72
Nephronophthisis 13

Criteria Provided
Single Submitter

1 SubmittersRCV005027337

NM_025132.4(WDR19):c.291-2A>G

SNV
Germline

Chr4:39194542

Likely pathogenic

Senior-Loken syndrome 8
Cranioectodermal dysplasia 4
Asphyxiating thoracic dystrophy 5
Spermatogenic failure 72
Nephronophthisis 13

Criteria Provided
Single Submitter

1 SubmittersRCV005027339

NM_025132.4(WDR19):c.355G>T (p.Gly119Ter)

SNV
Germline

Chr4:39194608

Likely pathogenic

Senior-Loken syndrome 8
Cranioectodermal dysplasia 4
Asphyxiating thoracic dystrophy 5
Spermatogenic failure 72
Nephronophthisis 13

Criteria Provided
Single Submitter

1 SubmittersRCV005027340

NM_025132.4(WDR19):c.406+1G>T

SNV
Germline

Chr4:39194660

Likely pathogenic

Senior-Loken syndrome 8
Cranioectodermal dysplasia 4
Asphyxiating thoracic dystrophy 5
Spermatogenic failure 72
Nephronophthisis 13

Criteria Provided
Single Submitter

1 SubmittersRCV005027342

NM_025132.4(WDR19):c.523-1G>C

SNV
Germline

Chr4:39203641

Likely pathogenic

Senior-Loken syndrome 8
Cranioectodermal dysplasia 4
Asphyxiating thoracic dystrophy 5
Spermatogenic failure 72
Nephronophthisis 13

Criteria Provided
Single Submitter

1 SubmittersRCV005027345

NM_025132.4(WDR19):c.717-1G>A

SNV
Germline

Chr4:39205562

Likely pathogenic

Senior-Loken syndrome 8
Cranioectodermal dysplasia 4
Asphyxiating thoracic dystrophy 5
Spermatogenic failure 72
Nephronophthisis 13

Criteria Provided
Single Submitter

1 SubmittersRCV005027349

NM_025132.4(WDR19):c.1134+1G>A

SNV
Germline

Chr4:39216014

Likely pathogenic

Senior-Loken syndrome 8
Cranioectodermal dysplasia 4
Asphyxiating thoracic dystrophy 5
Spermatogenic failure 72
Nephronophthisis 13

Criteria Provided
Single Submitter

1 SubmittersRCV005039079

NM_025132.4(WDR19):c.1135-2A>G

SNV
Germline

Chr4:39216094

Likely pathogenic

Senior-Loken syndrome 8
Cranioectodermal dysplasia 4
Asphyxiating thoracic dystrophy 5
Spermatogenic failure 72
Nephronophthisis 13

Criteria Provided
Single Submitter

1 SubmittersRCV005039080

NM_025132.4(WDR19):c.2730-1G>A

SNV
Germline

Chr4:39253145

Likely pathogenic

Senior-Loken syndrome 8
Cranioectodermal dysplasia 4
Asphyxiating thoracic dystrophy 5
Spermatogenic failure 72
Nephronophthisis 13

Criteria Provided
Single Submitter

1 SubmittersRCV005039114

NM_025132.4(WDR19):c.2845C>T (p.Gln949Ter)

SNV
Germline

Chr4:39253261

Likely pathogenic

Senior-Loken syndrome 8
Cranioectodermal dysplasia 4
Asphyxiating thoracic dystrophy 5
Spermatogenic failure 72
Nephronophthisis 13

Criteria Provided
Single Submitter

1 SubmittersRCV005039117

NM_025132.4(WDR19):c.3436G>T (p.Glu1146Ter)

SNV
Germline

Chr4:39270053

Likely pathogenic

Senior-Loken syndrome 8
Cranioectodermal dysplasia 4
Asphyxiating thoracic dystrophy 5
Spermatogenic failure 72
Nephronophthisis 13

Criteria Provided
Single Submitter

1 SubmittersRCV005039128

NM_052989.3(IFT122):c.22A>T (p.Arg8Ter)

SNV
Germline

Chr3:129440352

Likely pathogenic

Cranioectodermal dysplasia 1

Criteria Provided
Single Submitter

1 SubmittersRCV005034935

NM_052989.3(IFT122):c.240G>A (p.Trp80Ter)

SNV
Germline

Chr3:129458645

Likely pathogenic

Cranioectodermal dysplasia 1

Criteria Provided
Single Submitter

1 SubmittersRCV005034938

NM_052989.3(IFT122):c.272+1G>C

SNV
Germline

Chr3:129458678

Likely pathogenic

Cranioectodermal dysplasia 1

Criteria Provided
Single Submitter

1 SubmittersRCV005031106

NM_052989.3(IFT122):c.1247C>A (p.Ser416Ter)

SNV
Germline

Chr3:129478115

Likely pathogenic

Cranioectodermal dysplasia 1

Criteria Provided
Single Submitter

1 SubmittersRCV005034947

NM_052989.3(IFT122):c.1279A>T (p.Lys427Ter)

SNV
Germline

Chr3:129478147

Likely pathogenic

Cranioectodermal dysplasia 1

Criteria Provided
Single Submitter

1 SubmittersRCV005031133

NM_052989.3(IFT122):c.2650+1G>A

SNV
Germline

Chr3:129504422

Likely pathogenic

Cranioectodermal dysplasia 1

Criteria Provided
Single Submitter

1 SubmittersRCV005034961

NM_052989.3(IFT122):c.3391+1G>A

SNV
Germline

Chr3:129517595

Likely pathogenic

Cranioectodermal dysplasia 1

Criteria Provided
Single Submitter

1 SubmittersRCV005031179

NM_052989.3(IFT122):c.419G>A (p.Trp140Ter)

SNV
Germline

Chr3:129464637

Pathogenic

Cranioectodermal dysplasia 1

Criteria Provided
Single Submitter

1 SubmittersRCV005064046

NM_052989.3(IFT122):c.3576G>A (p.Trp1192Ter)

SNV
Germline

Chr3:129519672

Pathogenic

Cranioectodermal dysplasia 1

Criteria Provided
Single Submitter

1 SubmittersRCV005080030

NM_052989.3(IFT122):c.193+2T>G

SNV
Germline

Chr3:129452000

Likely pathogenic

Cranioectodermal dysplasia 1

Criteria Provided
Single Submitter

1 SubmittersRCV005121599

NM_001399.5(EDA):c.850T>C (p.Phe284Leu)

SNV
Germline

ChrX:70033454

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

1 SubmittersRCV005124237

NM_001399.5(EDA):c.448G>T (p.Glu150Ter)

SNV
Germline

ChrX:69957078

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

1 SubmittersRCV005142163

NM_052989.3(IFT122):c.1148-2A>G

SNV
Germline

Chr3:129478014

Likely pathogenic

Cranioectodermal dysplasia 1

Criteria Provided
Single Submitter

1 SubmittersRCV005165621

NM_052989.3(IFT122):c.2791+1G>A

SNV
Germline

Chr3:129506550

Likely pathogenic

Cranioectodermal dysplasia 1

Criteria Provided
Single Submitter

1 SubmittersRCV005168755

NM_001399.5(EDA):c.133G>C (p.Gly45Arg)

SNV
Germline

ChrX:69616441

Likely pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

1 SubmittersRCV005199079

NM_001399.5(EDA):c.742-2A>G

SNV
Germline

ChrX:70030467

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

1 SubmittersRCV005199080

NM_001399.5(EDA):c.754C>T (p.His252Tyr)

SNV
Germline

ChrX:70030481

Pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

1 SubmittersRCV005199081

NM_001399.5(EDA):c.959A>G (p.Tyr320Cys)

SNV
Germline

ChrX:70035392

Likely pathogenic

Hypohidrotic X-linked ectodermal dysplasia

Criteria Provided
Single Submitter

1 SubmittersRCV005199082

NM_022336.4(EDAR):c.1258C>T (p.Arg420Trp)

SNV
Germline

Chr2:108896996

Likely pathogenic

Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant

Criteria Provided
Single Submitter

1 SubmittersRCV005225830

NM_020779.4(WDR35):c.1714C>T (p.Gln572Ter)

SNV
Germline

Chr2:19945917

Pathogenic

Short-rib thoracic dysplasia 7 with or without polydactyly
Cranioectodermal dysplasia 2

Criteria Provided
Single Submitter

1 SubmittersRCV005223899

NM_022336.4(EDAR):c.1024+1G>T

SNV
Germline

Chr2:108906307

Pathogenic

Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant

Criteria Provided
Single Submitter

1 SubmittersRCV005215551

NM_022336.4(EDAR):c.1213G>A (p.Gly405Ser)

SNV
Germline

Chr2:108897041

Likely pathogenic

Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant

Criteria Provided
Single Submitter

1 SubmittersRCV005213180

NM_022336.4(EDAR):c.1181G>A (p.Gly394Asp)

SNV
Germline

Chr2:108897073

Likely pathogenic

Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant

Criteria Provided
Single Submitter

1 SubmittersRCV005212822

NM_020529.3(NFKBIA):c.106T>G (p.Ser36Ala)

SNV
Germline

Chr14:35404539

Likely pathogenic

Ectodermal dysplasia and immunodeficiency 2

Criteria Provided
Single Submitter

1 SubmittersRCV005229655

NM_025132.4(WDR19):c.290+1G>T

SNV
Germline

Chr4:39189782

Likely pathogenic

Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Nephronophthisis 13
Cranioectodermal dysplasia 4

Criteria Provided
Single Submitter

1 SubmittersRCV005356941

NM_002224.4(ITPR3):c.586G>A (p.Ala196Thr)

SNV
Germline

Chr6:33659078

Pathogenic

IMMUNODEFICIENCY 133 WITH ECTODERMAL DYSPLASIA WITH OR WITHOUT PERIPHERAL NEUROPATHY

No Assertion Criteria Provided

1 SubmittersRCV005604761

NM_002224.4(ITPR3):c.7517T>A (p.Ile2506Asn)

SNV
Germline

Chr6:33692786

Pathogenic

IMMUNODEFICIENCY 133 WITH ECTODERMAL DYSPLASIA WITH OR WITHOUT PERIPHERAL NEUROPATHY

No Assertion Criteria Provided

1 SubmittersRCV005604762

NM_001114980.2(TP63):c.2T>G (p.Met1Arg)

SNV
Germline

Chr3:189789802

Pathogenic

Ectodermal dysplasia

Criteria Provided
Single Submitter

1 SubmittersRCV005626019