Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000213.5(ITGB4):c.467T>C (p.Leu156Pro)	SNV Germline	Chr17:75727853	Pathogenic	Junctional epidermolysis bullosa with pyloric atresia	No Assertion Criteria Provided	CA257298	rs_121912461	1 SubmittersRCV000015853
NM_000213.5(ITGB4):c.1660C>T (p.Arg554Ter)	SNV Germline	Chr17:75736053	Pathogenic	Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate Junctional epidermolysis bullosa with pyloric atresia	Criteria Provided Single Submitter	CA257299	rs_121912462	2 SubmittersRCV000015854 RCV005016271
NM_000213.5(ITGB4):c.182G>A (p.Cys61Tyr)	SNV Germline	Chr17:75727423	Pathogenic/Likely pathogenic	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided See cases Epidermolysis bullosa, junctional 5A, intermediate Junctional epidermolysis bullosa with pyloric atresia	Criteria Provided Multiple Submitters No Conflicts	CA341333	rs_80338755	7 SubmittersRCV000015855 RCV000413122 RCV003156061 RCV002504794
NM_000213.5(ITGB4):c.1684T>C (p.Cys562Arg)	SNV Germline	Chr17:75736077	Likely pathogenic	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided	Criteria Provided Single Submitter	CA257301	rs_121912463	2 SubmittersRCV000015856 RCV005089264
NM_000213.5(ITGB4):c.3793+1G>A	SNV Germline	Chr17:75751112	Pathogenic	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA257302	rs_147222357	4 SubmittersRCV000015857 RCV000255841
NM_000213.5(ITGB4):c.4643G>A (p.Trp1548Ter)	SNV Germline	Chr17:75755785	Pathogenic	Junctional epidermolysis bullosa with pyloric atresia	No Assertion Criteria Provided	CA257303	rs_121912464	1 SubmittersRCV000015858
NM_000213.5(ITGB4):c.112T>C (p.Cys38Arg)	SNV Germline	Chr17:75727227	Pathogenic	Junctional epidermolysis bullosa with pyloric atresia	No Assertion Criteria Provided	CA257307	rs_121912465	1 SubmittersRCV000015859
NM_000213.5(ITGB4):c.3977-19T>A	SNV Germline	Chr17:75752427	Pathogenic	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided	Criteria Provided Single Submitter	CA627596326	rs_1434530468	2 SubmittersRCV000015860 RCV003556028
NM_000213.5(ITGB4):c.3841C>T (p.Arg1281Trp)	SNV Germline	Chr17:75752221	Pathogenic/Likely pathogenic	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided Junctional epidermolysis bullosa Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate	Criteria Provided Multiple Submitters No Conflicts	CA257309	rs_121912467	4 SubmittersRCV000015863 RCV000359496 RCV004586010 RCV005016272
NM_000213.5(ITGB4):c.3674G>A (p.Arg1225His)	SNV Germline	Chr17:75750992	Pathogenic/Likely pathogenic	Junctional epidermolysis bullosa with pyloric atresia Junctional epidermolysis bullosa	Criteria Provided Multiple Submitters No Conflicts	CA257310	rs_121912468	4 SubmittersRCV000015864 RCV005406745
NM_000213.5(ITGB4):c.2783-2A>G	SNV Germline	Chr17:75742580	Pathogenic/Likely pathogenic	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA276008	rs_758551913	4 SubmittersRCV000190599 RCV003556234
NM_201384.3(PLEC):c.1405C>T (p.Gln469Ter)	SNV Germline	Chr8:143933210	Pathogenic	Junctional epidermolysis bullosa with pyloric atresia	No Assertion Criteria Provided	CA10575770	rs_879255260	1 SubmittersRCV000239385
NM_000213.5(ITGB4):c.5329+2T>C	SNV Germline	Chr17:75757312	Likely pathogenic	Epidermolysis bullosa simplex 1C, localized Junctional epidermolysis bullosa, non-Herlitz type Junctional epidermolysis bullosa with pyloric atresia	Criteria Provided Single Submitter	CA8770556	rs_762236241	1 SubmittersRCV000490437
NM_000210.4(ITGA6):c.1374A>G (p.Ser458=)	SNV Germline	Chr2:172476499	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided	Criteria Provided Conflicting Classifications	CA1968100	rs_138908657	2 SubmittersRCV000350753 RCV000942264
NM_000210.4(ITGA6):c.2109G>A (p.Thr703=)	SNV Germline	Chr2:172487402	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided	Criteria Provided Conflicting Classifications	CA1968295	rs_141344340	2 SubmittersRCV000358517 RCV000917107
NM_000210.4(ITGA6):c.2861C>T (p.Ser954Leu)	SNV Germline	Chr2:172491303	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 6, with pyloric atresia Condition: not provided	Criteria Provided Conflicting Classifications	CA1968518	rs_565088728	3 SubmittersRCV000341392 RCV002488706 RCV003727689
NM_000210.4(ITGA6):c.2651A>G (p.Gln884Arg)	SNV Germline	Chr2:172489630	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided ITGA6-related disorder Epidermolysis bullosa, junctional 6, with pyloric atresia	Criteria Provided Conflicting Classifications	CA1968442	rs_61757096	5 SubmittersRCV000388751 RCV002521333 RCV004757206 RCV005398459
NM_000210.4(ITGA6):c.2819C>T (p.Pro940Leu)	SNV Germline	Chr2:172491261	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided	Criteria Provided Conflicting Classifications	CA1968502	rs_138874769	2 SubmittersRCV000347958 RCV002057608
NM_000210.4(ITGA6):c.3006T>C (p.Phe1002=)	SNV Germline	Chr2:172497992	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided	Criteria Provided Conflicting Classifications	CA1968574	rs_139596061	2 SubmittersRCV000358668 RCV000963267
NM_000210.4(ITGA6):c.3075G>A (p.Gly1025=)	SNV Germline	Chr2:172498061	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided	Criteria Provided Conflicting Classifications	CA1968586	rs_368851699	2 SubmittersRCV000261791 RCV002523095
NM_000210.4(ITGA6):c.3132A>G (p.Arg1044=)	SNV Germline	Chr2:172501789	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided	Criteria Provided Conflicting Classifications	CA1968613	rs_143159110	2 SubmittersRCV000300621 RCV003727690
NM_000213.5(ITGB4):c.-125G>C	SNV Germline	Chr17:75721498	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided	Criteria Provided Conflicting Classifications	CA10640511	rs_552008042	3 SubmittersRCV000291660 RCV003221918
NM_000213.5(ITGB4):c.1095G>A (p.Arg365=)	SNV Germline	Chr17:75731248	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided ITGB4-related disorder	Criteria Provided Conflicting Classifications	CA8768879	rs_141970956	3 SubmittersRCV000377681 RCV000942507 RCV003940288
NM_000213.5(ITGB4):c.1181G>A (p.Arg394Lys)	SNV Germline	Chr17:75731334	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8768899	rs_144655991	3 SubmittersRCV000383527 RCV002523015 RCV004629188
NM_000213.5(ITGB4):c.1262C>T (p.Thr421Met)	SNV Germline	Chr17:75731858	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided	Criteria Provided Conflicting Classifications	CA8768950	rs_148535298	2 SubmittersRCV000389270 RCV002524439
NM_000213.5(ITGB4):c.1413C>T (p.Asn471=)	SNV Germline	Chr17:75732198	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided	Criteria Provided Conflicting Classifications	CA8769013	rs_375790655	2 SubmittersRCV000396459 RCV003718192
NM_000213.5(ITGB4):c.1581C>T (p.Gly527=)	SNV Germline	Chr17:75733616	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided	Criteria Provided Conflicting Classifications	CA8769062	rs_374868983	2 SubmittersRCV000361719 RCV003765885
NM_000213.5(ITGB4):c.1666C>T (p.Arg556Cys)	SNV Germline	Chr17:75736059	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided Inborn genetic diseases Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate	Criteria Provided Conflicting Classifications	CA8769097	rs_150166497	6 SubmittersRCV000301781 RCV001764294 RCV004021713 RCV005018680
NM_000213.5(ITGB4):c.2025C>T (p.Asp675=)	SNV Germline	Chr17:75737356	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided	Criteria Provided Conflicting Classifications	CA8769233	rs_202097958	2 SubmittersRCV000278921 RCV003574747
NM_000213.5(ITGB4):c.2422G>A (p.Ala808Thr)	SNV Germline	Chr17:75740047	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided Epidermolysis bullosa simplex 1C, localized Inborn genetic diseases Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate ITGB4-related disorder	Criteria Provided Conflicting Classifications	CA8769382	rs_147480547	7 SubmittersRCV000340007 RCV000996607 RCV001262484 RCV004984813 RCV005398440 RCV003957664
NM_000213.5(ITGB4):c.2782+10C>T	SNV Germline	Chr17:75742499	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate	Criteria Provided Conflicting Classifications	CA8769568	rs_757546708	3 SubmittersRCV000369900 RCV003105870 RCV005025456
NM_000213.5(ITGB4):c.2962+14G>A	SNV Germline	Chr17:75742775	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate Condition: not provided	Criteria Provided Conflicting Classifications	CA8769636	rs_369351466	3 SubmittersRCV000319224 RCV002487434 RCV003765887
NM_000213.5(ITGB4):c.5243G>A (p.Arg1748His)	SNV Germline	Chr17:75757224	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided ITGB4-related disorder	Criteria Provided Conflicting Classifications	CA8770529	rs_151053969	4 SubmittersRCV000386190 RCV002266953 RCV003950108
NM_000213.5(ITGB4):c.708C>T (p.Phe236=)	SNV Germline	Chr17:75729406	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided ITGB4-related disorder	Criteria Provided Conflicting Classifications	CA8768748	rs_146923910	3 SubmittersRCV000356549 RCV000942505 RCV003912349
NM_000213.5(ITGB4):c.1560C>T (p.Cys520=)	SNV Germline	Chr17:75733595	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided	Criteria Provided Conflicting Classifications	CA8769058	rs_538635871	2 SubmittersRCV000297609 RCV003660782
NM_000213.5(ITGB4):c.1593C>T (p.Tyr531=)	SNV Germline	Chr17:75733628	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided	Criteria Provided Conflicting Classifications	CA8769065	rs_778102219	2 SubmittersRCV000267769 RCV003727680
NM_000213.5(ITGB4):c.3230G>T (p.Arg1077Leu)	SNV Germline	Chr17:75748959	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided Inborn genetic diseases Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate	Criteria Provided Conflicting Classifications	CA8769741	rs_201487753	4 SubmittersRCV000322588 RCV002523017 RCV002523018 RCV005025457
NM_000213.5(ITGB4):c.3598G>A (p.Gly1200Arg)	SNV Germline	Chr17:75750803	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided ITGB4-related disorder	Criteria Provided Conflicting Classifications	CA8769876	rs_75129664	4 SubmittersRCV000403638 RCV000894709 RCV003912351
NM_000213.5(ITGB4):c.3858G>A (p.Glu1286=)	SNV Germline	Chr17:75752238	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided	Criteria Provided Conflicting Classifications	CA8769957	rs_372222796	2 SubmittersRCV000370688 RCV003698767
NM_000213.5(ITGB4):c.4589C>T (p.Thr1530Met)	SNV Germline	Chr17:75755731	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided ITGB4-related disorder	Criteria Provided Conflicting Classifications	CA8770247	rs_140575355	4 SubmittersRCV000380822 RCV000914577 RCV003912352
NM_000213.5(ITGB4):c.5127C>T (p.Asn1709=)	SNV Germline	Chr17:75757016	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided	Criteria Provided Conflicting Classifications	CA8770473	rs_376733146	2 SubmittersRCV000325570 RCV002524442
NM_000213.5(ITGB4):c.5229G>A (p.Pro1743=)	SNV Germline	Chr17:75757210	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided ITGB4-related disorder	Criteria Provided Conflicting Classifications	CA8770525	rs_140140182	3 SubmittersRCV000334052 RCV000904969 RCV003922381
NM_000213.5(ITGB4):c.1002+12A>G	SNV Germline	Chr17:75730516	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided	Criteria Provided Conflicting Classifications	CA8768831	rs_374003966	2 SubmittersRCV000316849 RCV002521122
NM_000213.5(ITGB4):c.1179G>A (p.Thr393=)	SNV Germline	Chr17:75731332	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided	Criteria Provided Conflicting Classifications	CA8768897	rs_772335175	2 SubmittersRCV000328912 RCV002056624
NM_000213.5(ITGB4):c.1377+7C>T	SNV Germline	Chr17:75731980	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided	Criteria Provided Conflicting Classifications	CA8768982	rs_200004156	3 SubmittersRCV000294990 RCV002056625
NM_000213.5(ITGB4):c.1749C>T (p.Ile583=)	SNV Germline	Chr17:75736142	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided	Criteria Provided Conflicting Classifications	CA8769111	rs_144302042	4 SubmittersRCV000271155 RCV001729536
NM_000213.5(ITGB4):c.2123C>T (p.Pro708Leu)	SNV Germline	Chr17:75737547	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate	Criteria Provided Conflicting Classifications	CA8769271	rs_146500584	3 SubmittersRCV000396730 RCV001859919 RCV002495030
NM_000213.5(ITGB4):c.2625C>T (p.Ala875=)	SNV Germline	Chr17:75740997	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided	Criteria Provided Conflicting Classifications	CA10650124	rs_561694657	2 SubmittersRCV000309168 RCV003765886
NM_000213.5(ITGB4):c.2634-8C>T	SNV Germline	Chr17:75742333	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided	Criteria Provided Conflicting Classifications	CA8769535	rs_749527800	2 SubmittersRCV000366281 RCV003542295
NM_000213.5(ITGB4):c.3624C>T (p.Ser1208=)	SNV Germline	Chr17:75750829	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided	Criteria Provided Conflicting Classifications	CA8769885	rs_145928221	2 SubmittersRCV000291309 RCV002056628
NM_000213.5(ITGB4):c.3655+10C>T	SNV Germline	Chr17:75750870	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia ITGB4-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA8769894	rs_767096926	3 SubmittersRCV000343897 RCV003897739 RCV003718194
NM_000213.5(ITGB4):c.4444C>T (p.Leu1482=)	SNV Germline	Chr17:75754701	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided	Criteria Provided Conflicting Classifications	CA8770115	rs_756626295	2 SubmittersRCV000320586 RCV003765888
NM_000213.5(ITGB4):c.4663C>T (p.Arg1555Trp)	SNV Germline	Chr17:75755805	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate	Criteria Provided Conflicting Classifications	CA8770267	rs_150277911	4 SubmittersRCV000350615 RCV003574748 RCV005018682
NM_000213.5(ITGB4):c.5013C>T (p.Ile1671=)	SNV Germline	Chr17:75756819	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided	Criteria Provided Conflicting Classifications	CA8770397	rs_372195997	2 SubmittersRCV000396349 RCV002524441
NM_000213.5(ITGB4):c.5053+10A>G	SNV Germline	Chr17:75756869	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided ITGB4-related disorder	Criteria Provided Conflicting Classifications	CA10650146	rs_886053418	3 SubmittersRCV000304998 RCV003765889 RCV003922380
NM_000213.5(ITGB4):c.210G>A (p.Ala70=)	SNV Germline	Chr17:75727451	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided	Criteria Provided Conflicting Classifications	CA8768601	rs_200500313	3 SubmittersRCV000307065 RCV000896858
NM_000213.5(ITGB4):c.1032A>G (p.Ser344=)	SNV Germline	Chr17:75730904	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided ITGB4-related disorder	Criteria Provided Conflicting Classifications	CA8768853	rs_145591069	3 SubmittersRCV000353021 RCV000942506 RCV003940287
NM_000213.5(ITGB4):c.1539C>T (p.Ser513=)	SNV Germline	Chr17:75733574	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided	Criteria Provided Conflicting Classifications	CA10650948	rs_886053410	2 SubmittersRCV000400149 RCV003669132
NM_000213.5(ITGB4):c.2784C>T (p.Asp928=)	SNV Germline	Chr17:75742583	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided	Criteria Provided Conflicting Classifications	CA8769588	rs_201900480	3 SubmittersRCV000277812 RCV000842262
NM_000213.5(ITGB4):c.2833C>T (p.Arg945Trp)	SNV Germline	Chr17:75742632	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate	Criteria Provided Conflicting Classifications	CA8769597	rs_150668075	3 SubmittersRCV000330491 RCV003718193 RCV005018681
NM_000213.5(ITGB4):c.3057C>T (p.Gly1019=)	SNV Germline	Chr17:75743807	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate ITGB4-related disorder	Criteria Provided Conflicting Classifications	CA8769683	rs_139146525	4 SubmittersRCV000371609 RCV003556336 RCV002504102 RCV004748731
NM_000213.5(ITGB4):c.4319-7C>G	SNV Germline	Chr17:75754569	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided	Criteria Provided Conflicting Classifications	CA8770080	rs_376011638	2 SubmittersRCV000317453 RCV002523019
NM_000213.5(ITGB4):c.5053+14C>T	SNV Germline	Chr17:75756873	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided	Criteria Provided Conflicting Classifications	CA8770409	rs_78884789	3 SubmittersRCV000362066 RCV001556550
NM_000213.5(ITGB4):c.5219-15A>G	SNV Germline	Chr17:75757185	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided	Criteria Provided Conflicting Classifications	CA8770516	rs_142184100	3 SubmittersRCV000276703 RCV002056629
NM_000213.5(ITGB4):c.2986C>T (p.Gln996Ter)	SNV Germline	Chr17:75743736	Likely pathogenic	Junctional epidermolysis bullosa with pyloric atresia	Criteria Provided Multiple Submitters No Conflicts	CA8769662	rs_772142634	2 SubmittersRCV000454275
NM_000213.5(ITGB4):c.2550+1G>A	SNV Germline	Chr17:75740462	Likely pathogenic	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA8769443	rs_545619665	2 SubmittersRCV000779230 RCV003688883
NM_000213.5(ITGB4):c.2922C>T (p.Leu974=)	SNV Germline	Chr17:75742721	Conflicting classifications of pathogenicity	Condition: not provided Junctional epidermolysis bullosa with pyloric atresia	Criteria Provided Conflicting Classifications	CA8769622	rs_139130590	3 SubmittersRCV000954311 RCV001128251
NM_000213.5(ITGB4):c.5172C>T (p.Phe1724=)	SNV Germline	Chr17:75757061	Conflicting classifications of pathogenicity	Condition: not provided Junctional epidermolysis bullosa with pyloric atresia ITGB4-related disorder	Criteria Provided Conflicting Classifications	CA8770479	rs_144339436	5 SubmittersRCV000968359 RCV001122722 RCV003916256
NM_000213.5(ITGB4):c.312A>G (p.Gln104=)	SNV Germline	Chr17:75727698	Conflicting classifications of pathogenicity	Condition: not provided Junctional epidermolysis bullosa with pyloric atresia ITGB4-related disorder	Criteria Provided Conflicting Classifications	CA8768637	rs_568835164	3 SubmittersRCV000887509 RCV001124982 RCV003920689
NM_000213.5(ITGB4):c.1446C>T (p.Ser482=)	SNV Germline	Chr17:75732231	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa, junctional 5A, intermediate Junctional epidermolysis bullosa with pyloric atresia	Criteria Provided Conflicting Classifications	CA8769022	rs_8080369	2 SubmittersRCV000897202 RCV005021275
NM_000213.5(ITGB4):c.1884C>T (p.Asp628=)	SNV Germline	Chr17:75736588	Conflicting classifications of pathogenicity	Condition: not provided Junctional epidermolysis bullosa with pyloric atresia	Criteria Provided Conflicting Classifications	CA8769177	rs_140078827	2 SubmittersRCV000897930 RCV001126064
NM_000213.5(ITGB4):c.3427A>G (p.Ile1143Val)	SNV Germline	Chr17:75750221	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa, junctional 5A, intermediate Junctional epidermolysis bullosa with pyloric atresia ITGB4-related disorder	Criteria Provided Conflicting Classifications	CA8769824	rs_149481974	4 SubmittersRCV000910699 RCV002502734 RCV004749534
NM_000213.5(ITGB4):c.4389G>A (p.Thr1463=)	SNV Germline	Chr17:75754646	Conflicting classifications of pathogenicity	Condition: not provided Junctional epidermolysis bullosa with pyloric atresia	Criteria Provided Conflicting Classifications	CA8770100	rs_574417789	2 SubmittersRCV000906237 RCV001122618
NM_000210.4(ITGA6):c.3000T>C (p.Thr1000=)	SNV Germline	Chr2:172497986	Conflicting classifications of pathogenicity	Condition: not provided Junctional epidermolysis bullosa with pyloric atresia	Criteria Provided Conflicting Classifications	CA1968571	rs_751960466	2 SubmittersRCV000921775 RCV001131345
NM_000213.5(ITGB4):c.3501C>T (p.Ser1167=)	SNV Germline	Chr17:75750706	Conflicting classifications of pathogenicity	Condition: not provided Junctional epidermolysis bullosa with pyloric atresia	Criteria Provided Conflicting Classifications	CA8769854	rs_141513851	2 SubmittersRCV000913290 RCV001125311
NM_000210.4(ITGA6):c.2169G>A (p.Gln723=)	SNV Germline	Chr2:172487555	Conflicting classifications of pathogenicity	Condition: not provided Junctional epidermolysis bullosa with pyloric atresia	Criteria Provided Conflicting Classifications	CA1968323	rs_149917878	2 SubmittersRCV000944033 RCV001135712
NM_000213.5(ITGB4):c.537C>T (p.Ser179=)	SNV Germline	Chr17:75728444	Conflicting classifications of pathogenicity	Condition: not provided Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate	Criteria Provided Conflicting Classifications	CA8768695	rs_201538482	2 SubmittersRCV000935853 RCV005029537
NM_000213.5(ITGB4):c.2834G>A (p.Arg945Gln)	SNV Germline	Chr17:75742633	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate ITGB4-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA8769598	rs_141953294	5 SubmittersRCV000990061 RCV002489462 RCV003392719 RCV003769305
NM_000213.5(ITGB4):c.759G>A (p.Pro253=)	SNV Germline	Chr17:75730261	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided	Criteria Provided Conflicting Classifications	CA8768779	rs_776214034	2 SubmittersRCV001125951 RCV002070058
NM_000213.5(ITGB4):c.852C>T (p.Asn284=)	SNV Germline	Chr17:75730354	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8768794	rs_529755730	4 SubmittersRCV001125952 RCV003718346 RCV005348327
NM_000213.5(ITGB4):c.1113C>T (p.Asp371=)	SNV Germline	Chr17:75731266	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided	Criteria Provided Conflicting Classifications	CA8768882	rs_772224695	2 SubmittersRCV001128065 RCV003708574
NM_000213.5(ITGB4):c.1345G>A (p.Gly449Ser)	SNV Germline	Chr17:75731941	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided Epidermolysis bullosa, junctional 5A, intermediate Junctional epidermolysis bullosa with pyloric atresia	Criteria Provided Conflicting Classifications	CA8768975	rs_147963396	6 SubmittersRCV001122300 RCV001355124 RCV002491379
NM_000213.5(ITGB4):c.1428C>T (p.Cys476=)	SNV Germline	Chr17:75732213	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided	Criteria Provided Conflicting Classifications	CA8769017	rs_149030156	3 SubmittersRCV001122301 RCV002069991
NM_000213.5(ITGB4):c.2067C>T (p.Asp689=)	SNV Germline	Chr17:75737398	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided	Criteria Provided Conflicting Classifications	CA294066791	rs_1020515752	2 SubmittersRCV001128155 RCV003698839
NM_000213.5(ITGB4):c.2145C>T (p.Ile715=)	SNV Germline	Chr17:75737569	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided ITGB4-related disorder	Criteria Provided Conflicting Classifications	CA8769275	rs_140999738	3 SubmittersRCV001122424 RCV002069996 RCV003918709
NM_000213.5(ITGB4):c.2241G>A (p.Pro747=)	SNV Germline	Chr17:75739692	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided ITGB4-related disorder	Criteria Provided Conflicting Classifications	CA8769314	rs_377428995	3 SubmittersRCV001122425 RCV003688904 RCV003898121
NM_000213.5(ITGB4):c.2503C>A (p.Pro835Thr)	SNV Germline	Chr17:75740414	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate Junctional epidermolysis bullosa with pyloric atresia Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA8769426	rs_183705877	5 SubmittersRCV001122427 RCV002482229 RCV002558213 RCV002556638
NM_000213.5(ITGB4):c.2638G>A (p.Asp880Asn)	SNV Germline	Chr17:75742345	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided	Criteria Provided Conflicting Classifications	CA8769537	rs_139092703	3 SubmittersRCV001125202 RCV002256685
NM_000213.5(ITGB4):c.2670G>A (p.Ala890=)	SNV Germline	Chr17:75742377	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided	Criteria Provided Conflicting Classifications	CA8769541	rs_146449374	2 SubmittersRCV001125203 RCV003558689
NM_000213.5(ITGB4):c.2701C>T (p.Leu901Phe)	SNV Germline	Chr17:75742408	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided	Criteria Provided Conflicting Classifications	CA8769556	rs_145644205	4 SubmittersRCV001126181 RCV001788418
NM_000213.5(ITGB4):c.2865C>T (p.Asp955=)	SNV Germline	Chr17:75742664	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided	Criteria Provided Conflicting Classifications	CA8769605	rs_780448706	2 SubmittersRCV001128249 RCV003769227
NM_000213.5(ITGB4):c.2918C>A (p.Thr973Asn)	SNV Germline	Chr17:75742717	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided	Criteria Provided Conflicting Classifications	CA8769620	rs_146391318	2 SubmittersRCV001128250 RCV002556804
NM_000213.5(ITGB4):c.3099G>A (p.Ala1033=)	SNV Germline	Chr17:75743849	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided ITGB4-related disorder	Criteria Provided Conflicting Classifications	CA8769691	rs_145314226	3 SubmittersRCV001122523 RCV003546632 RCV003918710
NM_000213.5(ITGB4):c.3205T>C (p.Ser1069Pro)	SNV Germline	Chr17:75748934	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided Epidermolysis bullosa, junctional 5A, intermediate Junctional epidermolysis bullosa with pyloric atresia	Criteria Provided Conflicting Classifications	CA8769733	rs_530916890	3 SubmittersRCV001122525 RCV002556641 RCV005021460
NM_000213.5(ITGB4):c.4440C>T (p.Arg1480=)	SNV Germline	Chr17:75754697	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided	Criteria Provided Conflicting Classifications	CA8770113	rs_781085072	2 SubmittersRCV001122620 RCV003727876
NM_000213.5(ITGB4):c.4788C>T (p.Tyr1596=)	SNV Germline	Chr17:75756508	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided ITGB4-related disorder	Criteria Provided Conflicting Classifications	CA8770316	rs_369145421	3 SubmittersRCV001126378 RCV002070067 RCV003953502
NM_000213.5(ITGB4):c.5106C>T (p.Thr1702=)	SNV Germline	Chr17:75756995	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided	Criteria Provided Conflicting Classifications	CA8770466	rs_754832163	2 SubmittersRCV001122721 RCV003727877
NM_000213.5(ITGB4):c.5264C>T (p.Pro1755Leu)	SNV Germline	Chr17:75757245	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate	Criteria Provided Conflicting Classifications	CA8770536	rs_140577812	4 SubmittersRCV001123812 RCV001882406 RCV002480498
NM_000213.5(ITGB4):c.5313C>T (p.Thr1771=)	SNV Germline	Chr17:75757294	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided	Criteria Provided Conflicting Classifications	CA8770550	rs_138707718	2 SubmittersRCV001123814 RCV003718345
NM_000213.5(ITGB4):c.5434A>G (p.Ser1812Gly)	SNV Germline	Chr17:75757520	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate	Criteria Provided Conflicting Classifications	CA8770607	rs_755224034	3 SubmittersRCV001126460 RCV003769214 RCV005021470
NM_000213.5(ITGB4):c.162+9C>T	SNV Germline	Chr17:75727286	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided	Criteria Provided Conflicting Classifications	CA8768564	rs_200853535	2 SubmittersRCV001122208 RCV002556631
NM_000213.5(ITGB4):c.2551-10T>C	SNV Germline	Chr17:75740783	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided	Criteria Provided Conflicting Classifications	CA775084377	rs_1294215890	2 SubmittersRCV001125199 RCV003669191
NM_000213.5(ITGB4):c.2609+7C>T	SNV Germline	Chr17:75740858	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided	Criteria Provided Conflicting Classifications	CA8769492	rs_368466242	2 SubmittersRCV001125201 RCV003769208
NM_000213.5(ITGB4):c.2962+11G>A	SNV Germline	Chr17:75742772	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided	Criteria Provided Conflicting Classifications	CA294074341	rs_554755694	2 SubmittersRCV001128253 RCV003669193
NM_000213.5(ITGB4):c.3112-3C>T	SNV Germline	Chr17:75748838	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided not specified Epidermolysis bullosa, junctional 5A, intermediate Junctional epidermolysis bullosa with pyloric atresia	Criteria Provided Conflicting Classifications	CA8769716	rs_151033645	7 SubmittersRCV001122524 RCV001856614 RCV002249733 RCV002491381
NM_000213.5(ITGB4):c.3794-9C>T	SNV Germline	Chr17:75752165	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided ITGB4-related disorder	Criteria Provided Conflicting Classifications	CA8769947	rs_369461189	3 SubmittersRCV001126283 RCV001856652 RCV003906241
NM_000213.5(ITGB4):c.3977-4G>A	SNV Germline	Chr17:75752442	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided	Criteria Provided Conflicting Classifications	CA8770006	rs_369841673	2 SubmittersRCV001128332 RCV003769228
NM_000213.5(ITGB4):c.5053+15G>A	SNV Germline	Chr17:75756874	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided	Criteria Provided Conflicting Classifications	CA8770412	rs_375178466	2 SubmittersRCV001128426 RCV003769231
NM_000213.5(ITGB4):c.5054-11T>C	SNV Germline	Chr17:75756932	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided	Criteria Provided Conflicting Classifications	CA8770436	rs_774785239	2 SubmittersRCV001128427 RCV003688913
NM_000210.4(ITGA6):c.759T>G (p.Pro253=)	SNV Germline	Chr2:172471089	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided	Criteria Provided Conflicting Classifications	CA1967900	rs_200561616	2 SubmittersRCV001130520 RCV003574836
NM_000210.4(ITGA6):c.1850T>C (p.Ile617Thr)	SNV Germline	Chr2:172485260	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided Epidermolysis bullosa, junctional 6, with pyloric atresia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1968229	rs_148815652	6 SubmittersRCV001134216 RCV001354872 RCV002491402 RCV004032297
NM_000210.4(ITGA6):c.3069C>T (p.Leu1023=)	SNV Germline	Chr2:172498055	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided	Criteria Provided Conflicting Classifications	CA1968584	rs_748279299	2 SubmittersRCV001134345 RCV003769634
NM_000210.4(ITGA6):c.1269+14C>G	SNV Germline	Chr2:172475699	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided	Criteria Provided Conflicting Classifications	CA1968070	rs_199737747	2 SubmittersRCV001131247 RCV002070531
NM_000210.4(ITGA6):c.2680-14A>G	SNV Germline	Chr2:172491010	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided	Criteria Provided Conflicting Classifications	CA1968465	rs_202105422	2 SubmittersRCV001128721 RCV003769236
NM_000213.5(ITGB4):c.4051G>A (p.Asp1351Asn)	SNV Germline	Chr17:75752520	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate	Criteria Provided Conflicting Classifications	CA8770016	rs_769852038	3 SubmittersRCV001340726 RCV003382537 RCV005023061
NM_000213.5(ITGB4):c.701G>T (p.Gly234Val)	SNV Germline	Chr17:75729399	Pathogenic	Junctional epidermolysis bullosa with pyloric atresia	Criteria Provided Single Submitter	CA401041535	rs_1038415538	1 SubmittersRCV001352841
NM_000213.5(ITGB4):c.847C>T (p.Arg283Cys)	SNV Germline	Chr17:75730349	Pathogenic	Junctional epidermolysis bullosa with pyloric atresia	Criteria Provided Single Submitter	CA401042469	rs_1422797135	1 SubmittersRCV001352874
NM_000213.5(ITGB4):c.997T>G (p.Tyr333Asp)	SNV Germline	Chr17:75730499	Pathogenic/Likely pathogenic	Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate Junctional epidermolysis bullosa with pyloric atresia	Criteria Provided Multiple Submitters No Conflicts	CA8768824	rs_761952496	2 SubmittersRCV001352875 RCV005014474
NM_000213.5(ITGB4):c.1370G>A (p.Cys457Tyr)	SNV Germline	Chr17:75731966	Pathogenic	Junctional epidermolysis bullosa with pyloric atresia	Criteria Provided Single Submitter	CA401047897	rs_2060870463	1 SubmittersRCV001352876
NM_000213.5(ITGB4):c.2012G>C (p.Cys671Ser)	SNV Germline	Chr17:75737343	Pathogenic	Junctional epidermolysis bullosa with pyloric atresia	Criteria Provided Single Submitter	CA401058162	rs_2061001234	1 SubmittersRCV001352877
NM_000213.5(ITGB4):c.2465T>C (p.Leu822Ser)	SNV Germline	Chr17:75740376	Pathogenic	Junctional epidermolysis bullosa with pyloric atresia	Criteria Provided Single Submitter	CA294070084	rs_902551587	1 SubmittersRCV001352878
NM_000213.5(ITGB4):c.2633+1G>A	SNV Germline	Chr17:75741006	Pathogenic/Likely pathogenic	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA401066880	rs_1348061804	2 SubmittersRCV001352879 RCV003565479
NM_000213.5(ITGB4):c.3040C>T (p.Arg1014Trp)	SNV Germline	Chr17:75743790	Pathogenic	Junctional epidermolysis bullosa with pyloric atresia	Criteria Provided Single Submitter	CA401071005	rs_1164329850	1 SubmittersRCV001352880
NM_000213.5(ITGB4):c.469+5G>A	SNV Germline	Chr17:75727860	Conflicting classifications of pathogenicity	Condition: not provided Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate	Criteria Provided Conflicting Classifications	CA8768666	rs_141369871	3 SubmittersRCV001355619 RCV002486478
NM_000213.5(ITGB4):c.599C>T (p.Pro200Leu)	SNV Germline	Chr17:75729297	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa, junctional 5A, intermediate Junctional epidermolysis bullosa with pyloric atresia ITGB4-related disorder	Criteria Provided Conflicting Classifications	CA8768728	rs_148770294	5 SubmittersRCV001355966 RCV005014479 RCV004749666
NM_000213.5(ITGB4):c.1135C>T (p.Arg379Ter)	SNV Germline	Chr17:75731288	Pathogenic/Likely pathogenic	Abnormality of the skin Condition: not provided Epidermolysis bullosa, junctional 5A, intermediate Junctional epidermolysis bullosa with pyloric atresia	Criteria Provided Multiple Submitters No Conflicts	CA8768886	rs_777045339	3 SubmittersRCV001814580 RCV004809668 RCV005014582
NM_000213.5(ITGB4):c.4709-8C>A	SNV Germline	Chr17:75756421	Conflicting classifications of pathogenicity	Condition: not provided ITGB4-related disorder Epidermolysis bullosa, junctional 5A, intermediate Junctional epidermolysis bullosa with pyloric atresia	Criteria Provided Conflicting Classifications	CA8770296	rs_371797130	4 SubmittersRCV001583366 RCV003948622 RCV002495930
NM_000213.5(ITGB4):c.3793+1G>C	SNV Germline	Chr17:75751112	Pathogenic	Junctional epidermolysis bullosa with pyloric atresia Condition: not provided	Criteria Provided Single Submitter	CA401077496	rs_147222357	2 SubmittersRCV001844362 RCV001780424
NM_000213.5(ITGB4):c.5301C>T (p.His1767=)	SNV Germline	Chr17:75757282	Conflicting classifications of pathogenicity	Condition: not provided Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate	Criteria Provided Conflicting Classifications	CA294085103	rs_963564866	3 SubmittersRCV001799827 RCV005023261
NM_000213.5(ITGB4):c.4018G>A (p.Gly1340Arg)	SNV Germline	Chr17:75752487	Conflicting classifications of pathogenicity	Condition: not provided Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate Junctional epidermolysis bullosa with pyloric atresia	Criteria Provided Conflicting Classifications	CA8770011	rs_140930313	3 SubmittersRCV001974928 RCV002484697 RCV004762265
NM_000213.5(ITGB4):c.502A>G (p.Thr168Ala)	SNV Germline	Chr17:75728409	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate Condition: not provided	Criteria Provided Conflicting Classifications	CA8768691	rs_139287033	2 SubmittersRCV002486772 RCV002034330
NM_000213.5(ITGB4):c.1343C>T (p.Ala448Val)	SNV Germline	Chr17:75731939	Conflicting classifications of pathogenicity	Condition: not provided Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8768973	rs_144804175	3 SubmittersRCV002046517 RCV002507829 RCV002551199
NM_000213.5(ITGB4):c.3221G>A (p.Arg1074His)	SNV Germline	Chr17:75748950	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa, junctional 5A, intermediate Junctional epidermolysis bullosa with pyloric atresia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8769738	rs_147026529	4 SubmittersRCV002044160 RCV002482417 RCV002545338
NM_000213.5(ITGB4):c.1878C>T (p.Cys626=)	SNV Germline	Chr17:75736582	Conflicting classifications of pathogenicity	Condition: not provided Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate	Criteria Provided Conflicting Classifications	CA8769174	rs_373343133	2 SubmittersRCV002106388 RCV005025711
NM_000213.5(ITGB4):c.2254+1G>T	SNV Germline	Chr17:75739706	Pathogenic/Likely pathogenic	Condition: not provided Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate	Criteria Provided Multiple Submitters No Conflicts	CA294069137	rs_201310681	3 SubmittersRCV002306133 RCV005025786
NM_000213.5(ITGB4):c.3810G>A (p.Met1270Ile)	SNV Germline	Chr17:75752190	Conflicting classifications of pathogenicity	Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate Condition: not provided	Criteria Provided Conflicting Classifications	CA8769950	rs_373133055	3 SubmittersRCV005019207 RCV002462467
NM_000213.5(ITGB4):c.232G>A (p.Val78Met)	SNV Germline	Chr17:75727473	Conflicting classifications of pathogenicity	Condition: not provided Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA294058272	rs_557836108	3 SubmittersRCV003100413 RCV005021561 RCV004634175
NM_000213.5(ITGB4):c.4462C>T (p.Leu1488Phe)	SNV Germline	Chr17:75754719	Conflicting classifications of pathogenicity	Condition: not provided Junctional epidermolysis bullosa with pyloric atresia ITGB4-related disorder Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate	Criteria Provided Conflicting Classifications	CA8770122	rs_548288813	4 SubmittersRCV002573753 RCV003340504 RCV003933800 RCV005025851
NM_000213.5(ITGB4):c.4430T>C (p.Val1477Ala)	SNV Germline	Chr17:75754687	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate	Criteria Provided Conflicting Classifications	CA294084520	rs_374564280	3 SubmittersRCV002780975 RCV002780974 RCV005019390
NM_000213.5(ITGB4):c.4558G>A (p.Asp1520Asn)	SNV Germline	Chr17:75754815	Conflicting classifications of pathogenicity	Condition: not provided Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate Inborn genetic diseases Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate	Criteria Provided Conflicting Classifications	CA8770143	rs_149237647	4 SubmittersRCV002927139 RCV003147799 RCV003147800 RCV004617112 RCV005028023
NM_000213.5(ITGB4):c.407T>A (p.Met136Lys)	SNV Germline	Chr17:75727793	Conflicting classifications of pathogenicity	Condition: not provided Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate	Criteria Provided Conflicting Classifications	CA8768658	rs_146338793	2 SubmittersRCV002914838 RCV005028035
NM_000213.5(ITGB4):c.14G>A (p.Arg5His)	SNV Germline	Chr17:75724717	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate	Criteria Provided Conflicting Classifications	CA8768513	rs_374855840	3 SubmittersRCV002999248 RCV004983251 RCV005019544
NM_000213.5(ITGB4):c.4438C>T (p.Arg1480Cys)	SNV Germline	Chr17:75754695	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate	Criteria Provided Conflicting Classifications	CA8770110	rs_61735299	3 SubmittersRCV002664833 RCV003574980 RCV005021669
NM_000213.5(ITGB4):c.935G>A (p.Arg312His)	SNV Germline	Chr17:75730437	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate	Criteria Provided Conflicting Classifications	CA8768808	rs_750898335	3 SubmittersRCV002924548 RCV003720694 RCV005021726
NM_000213.5(ITGB4):c.2521G>A (p.Ala841Thr)	SNV Germline	Chr17:75740432	Conflicting classifications of pathogenicity	Condition: not provided Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate	Criteria Provided Conflicting Classifications	CA8769433	rs_199531912	3 SubmittersRCV003234385 RCV005029949
NM_000213.5(ITGB4):c.2905G>A (p.Ala969Thr)	SNV Germline	Chr17:75742704	Conflicting classifications of pathogenicity	Inborn genetic diseases Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate	Criteria Provided Conflicting Classifications	CA8769617	rs_55748088	2 SubmittersRCV003296038 RCV005021899
NM_000213.5(ITGB4):c.2446+8C>T	SNV Germline	Chr17:75740079	Conflicting classifications of pathogenicity	Condition: not provided Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate	Criteria Provided Conflicting Classifications	CA8769386	rs_772734108	2 SubmittersRCV003579665 RCV005030099
NM_000213.5(ITGB4):c.5053+1G>A	SNV Germline	Chr17:75756860	Likely pathogenic	Condition: not provided Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate	Criteria Provided Multiple Submitters No Conflicts	CA8770407	rs_748223473	2 SubmittersRCV003562363 RCV005014784
NM_000213.5(ITGB4):c.3640C>T (p.Arg1214Cys)	SNV Germline	Chr17:75750845	Conflicting classifications of pathogenicity	Condition: not provided Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate	Criteria Provided Conflicting Classifications	CA8769888	rs_571861704	2 SubmittersRCV003570273 RCV005014805
NM_000213.5(ITGB4):c.3591C>T (p.Cys1197=)	SNV Germline	Chr17:75750796	Conflicting classifications of pathogenicity	Condition: not provided Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate	Criteria Provided Conflicting Classifications	CA8769872	rs_766165249	2 SubmittersRCV003671054 RCV005030157
NM_000213.5(ITGB4):c.3316+16G>A	SNV Germline	Chr17:75749061	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa, junctional 5A, intermediate Junctional epidermolysis bullosa with pyloric atresia	Criteria Provided Conflicting Classifications	CA8769763	rs_780453463	2 SubmittersRCV003678936 RCV005014849
NM_000213.5(ITGB4):c.1860G>A (p.Ala620=)	SNV Germline	Chr17:75736386	Pathogenic/Likely pathogenic	Condition: not provided Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate	Criteria Provided Multiple Submitters No Conflicts	CA294065615	rs_1002936688	2 SubmittersRCV003700874 RCV005014878
NM_000213.5(ITGB4):c.2833C>A (p.Arg945=)	SNV Germline	Chr17:75742632	Conflicting classifications of pathogenicity	Condition: not provided Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate	Criteria Provided Conflicting Classifications	CA501838351	rs_150668075	2 SubmittersRCV003708417 RCV005014884
NM_000213.5(ITGB4):c.1609G>A (p.Glu537Lys)	SNV Germline	Chr17:75733644	Conflicting classifications of pathogenicity	Condition: not provided Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate	Criteria Provided Conflicting Classifications	CA8769066	rs_749548974	2 SubmittersRCV003724884 RCV005014894
NM_000213.5(ITGB4):c.989A>G (p.Tyr330Cys)	SNV Germline	Chr17:75730491	Conflicting classifications of pathogenicity	Condition: not provided Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate	Criteria Provided Conflicting Classifications	CA8768821	rs_370664880	2 SubmittersRCV003725959 RCV005014904
NM_000213.5(ITGB4):c.2930G>A (p.Arg977His)	SNV Germline	Chr17:75742729	Conflicting classifications of pathogenicity	Condition: not provided Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate	Criteria Provided Conflicting Classifications	CA8769627	rs_762167755	2 SubmittersRCV003739890 RCV005030240
NM_000213.5(ITGB4):c.2477G>A (p.Arg826His)	SNV Germline	Chr17:75740388	Conflicting classifications of pathogenicity	Condition: not provided Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate	Criteria Provided Conflicting Classifications	CA8769421	rs_200694443	2 SubmittersRCV003734152 RCV005014927
NM_000213.5(ITGB4):c.1540G>A (p.Gly514Ser)	SNV Germline	Chr17:75733575	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate	Criteria Provided Conflicting Classifications	CA8769052	rs_746401769	3 SubmittersRCV003734925 RCV004985580 RCV005014935
NM_000213.5(ITGB4):c.1178C>T (p.Thr393Met)	SNV Germline	Chr17:75731331	Conflicting classifications of pathogenicity	Condition: not provided Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate	Criteria Provided Conflicting Classifications	CA8768895	rs_752599095	2 SubmittersRCV003737940 RCV005030258
NM_000213.5(ITGB4):c.3373G>A (p.Gly1125Ser)	SNV Germline	Chr17:75750167	Conflicting classifications of pathogenicity	Condition: not provided Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate	Criteria Provided Conflicting Classifications	CA8769808	rs_147695826	2 SubmittersRCV003739087 RCV005014943
NM_000213.5(ITGB4):c.3105C>T (p.Gly1035=)	SNV Germline	Chr17:75743855	Conflicting classifications of pathogenicity	Condition: not provided Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate	Criteria Provided Conflicting Classifications	CA8769692	rs_147635062	2 SubmittersRCV003820865 RCV005015000
NM_000213.5(ITGB4):c.4559-16G>A	SNV Germline	Chr17:75755685	Conflicting classifications of pathogenicity	Condition: not provided Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate	Criteria Provided Conflicting Classifications	CA8770236	rs_749368644	2 SubmittersRCV003832742 RCV005030300
NM_000213.5(ITGB4):c.1216-9C>A	SNV Germline	Chr17:75731803	Conflicting classifications of pathogenicity	Condition: not provided Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate	Criteria Provided Conflicting Classifications	CA8768937	rs_755004951	2 SubmittersRCV003852742 RCV005015041
NM_000213.5(ITGB4):c.5257C>T (p.Gln1753Ter)	SNV Germline	Chr17:75757238	Pathogenic/Likely pathogenic	Condition: not provided Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate	Criteria Provided Multiple Submitters No Conflicts	CA401094299	rs_2061536929	2 SubmittersRCV003865411 RCV005015052
NM_000213.5(ITGB4):c.2984A>G (p.Glu995Gly)	SNV Germline	Chr17:75743734	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Epidermolysis bullosa, junctional 5A, intermediate Junctional epidermolysis bullosa with pyloric atresia	Criteria Provided Conflicting Classifications	CA8769661	rs_374504143	3 SubmittersRCV003863481 RCV004987110 RCV005015055
NM_000213.5(ITGB4):c.1173G>C (p.Gln391His)	SNV Germline	Chr17:75731326	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa, junctional 5A, intermediate Junctional epidermolysis bullosa with pyloric atresia	Criteria Provided Conflicting Classifications	CA8768894	rs_767417049	2 SubmittersRCV003873518 RCV005015064
NM_000213.5(ITGB4):c.285C>T (p.Thr95=)	SNV Germline	Chr17:75727671	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa, junctional 5A, intermediate Junctional epidermolysis bullosa with pyloric atresia	Criteria Provided Conflicting Classifications	CA8768625	rs_373041337	2 SubmittersRCV003871317 RCV005015070
NM_000213.5(ITGB4):c.331C>T (p.Arg111Trp)	SNV Germline	Chr17:75727717	Conflicting classifications of pathogenicity	Condition: not provided ITGB4-related disorder Epidermolysis bullosa, junctional 5A, intermediate Junctional epidermolysis bullosa with pyloric atresia	Criteria Provided Conflicting Classifications	CA8768643	rs_141385926	3 SubmittersRCV003870194 RCV003949073 RCV005030347
NM_000213.5(ITGB4):c.3842G>C (p.Arg1281Pro)	SNV Germline	Chr17:75752222	Pathogenic	Junctional epidermolysis bullosa with pyloric atresia	Criteria Provided Single Submitter			1 SubmittersRCV004596065
NM_000213.5(ITGB4):c.214T>C (p.Cys72Arg)	SNV Germline	Chr17:75727455	Likely pathogenic	Junctional epidermolysis bullosa with pyloric atresia	Criteria Provided Single Submitter			1 SubmittersRCV004776540
NM_000213.5(ITGB4):c.1462C>T (p.Gln488Ter)	SNV Germline	Chr17:75733497	Pathogenic	Junctional epidermolysis bullosa with pyloric atresia	Criteria Provided Single Submitter			1 SubmittersRCV004776541
NM_000213.5(ITGB4):c.4903G>A (p.Ala1635Thr)	SNV Germline	Chr17:75756709	Conflicting classifications of pathogenicity	Inborn genetic diseases Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate	Criteria Provided Conflicting Classifications			2 SubmittersRCV004989529 RCV005017351
NM_000213.5(ITGB4):c.754C>T (p.Arg252Cys)	SNV Germline	Chr17:75730256	Pathogenic/Likely pathogenic	Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005022641 RCV005112691
NM_000213.5(ITGB4):c.999C>A (p.Tyr333Ter)	SNV Germline	Chr17:75730501	Likely pathogenic	Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate	Criteria Provided Single Submitter			1 SubmittersRCV005022644
NM_000213.5(ITGB4):c.2395C>T (p.Gln799Ter)	SNV Germline	Chr17:75740020	Likely pathogenic	Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate	Criteria Provided Single Submitter			1 SubmittersRCV005022674
NM_000213.5(ITGB4):c.2610-1G>A	SNV Germline	Chr17:75740981	Likely pathogenic	Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate	Criteria Provided Single Submitter			1 SubmittersRCV005026078
NM_000213.5(ITGB4):c.3719G>A (p.Trp1240Ter)	SNV Germline	Chr17:75751037	Pathogenic	Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005022712 RCV005112692
NM_000213.5(ITGB4):c.3759C>A (p.Tyr1253Ter)	SNV Germline	Chr17:75751077	Likely pathogenic	Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate	Criteria Provided Single Submitter			1 SubmittersRCV005022714
NM_000213.5(ITGB4):c.3874C>T (p.Gln1292Ter)	SNV Germline	Chr17:75752254	Likely pathogenic	Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate	Criteria Provided Single Submitter			1 SubmittersRCV005026102
NM_000213.5(ITGB4):c.4108+1G>A	SNV Germline	Chr17:75752578	Likely pathogenic	Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate	Criteria Provided Single Submitter			1 SubmittersRCV005026105
NM_000213.5(ITGB4):c.4319-2A>G	SNV Germline	Chr17:75754574	Likely pathogenic	Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate	Criteria Provided Single Submitter			1 SubmittersRCV005026106
NM_000213.5(ITGB4):c.4744C>T (p.Gln1582Ter)	SNV Germline	Chr17:75756464	Likely pathogenic	Junctional epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional 5A, intermediate	Criteria Provided Single Submitter			1 SubmittersRCV005022735
NM_000213.5(ITGB4):c.1813C>T (p.Gln605Ter)	SNV Germline	Chr17:75736339	Likely pathogenic	Junctional epidermolysis bullosa with pyloric atresia	Criteria Provided Single Submitter			1 SubmittersRCV005362058

NM_000213.5(ITGB4):c.467T>C (p.Leu156Pro)

SNV
Germline

Chr17:75727853

Pathogenic

Junctional epidermolysis bullosa with pyloric atresia

No Assertion Criteria Provided

CA257298

rs_121912461

1 SubmittersRCV000015853

NM_000213.5(ITGB4):c.1660C>T (p.Arg554Ter)

SNV
Germline

Chr17:75736053

Pathogenic

Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate
Junctional epidermolysis bullosa with pyloric atresia

Criteria Provided
Single Submitter

CA257299

rs_121912462

2 SubmittersRCV000015854 RCV005016271

NM_000213.5(ITGB4):c.182G>A (p.Cys61Tyr)

SNV
Germline

Chr17:75727423

Pathogenic/Likely pathogenic

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided
See cases
Epidermolysis bullosa, junctional 5A, intermediate
Junctional epidermolysis bullosa with pyloric atresia

Criteria Provided
Multiple Submitters
No Conflicts

CA341333

rs_80338755

7 SubmittersRCV000015855 RCV000413122 RCV003156061 RCV002504794

NM_000213.5(ITGB4):c.1684T>C (p.Cys562Arg)

SNV
Germline

Chr17:75736077

Likely pathogenic

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided

Criteria Provided
Single Submitter

CA257301

rs_121912463

2 SubmittersRCV000015856 RCV005089264

NM_000213.5(ITGB4):c.3793+1G>A

SNV
Germline

Chr17:75751112

Pathogenic

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA257302

rs_147222357

4 SubmittersRCV000015857 RCV000255841

NM_000213.5(ITGB4):c.4643G>A (p.Trp1548Ter)

SNV
Germline

Chr17:75755785

Pathogenic

Junctional epidermolysis bullosa with pyloric atresia

No Assertion Criteria Provided

CA257303

rs_121912464

1 SubmittersRCV000015858

NM_000213.5(ITGB4):c.112T>C (p.Cys38Arg)

SNV
Germline

Chr17:75727227

Pathogenic

Junctional epidermolysis bullosa with pyloric atresia

No Assertion Criteria Provided

CA257307

rs_121912465

1 SubmittersRCV000015859

NM_000213.5(ITGB4):c.3977-19T>A

SNV
Germline

Chr17:75752427

Pathogenic

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided

Criteria Provided
Single Submitter

CA627596326

rs_1434530468

2 SubmittersRCV000015860 RCV003556028

NM_000213.5(ITGB4):c.3841C>T (p.Arg1281Trp)

SNV
Germline

Chr17:75752221

Pathogenic/Likely pathogenic

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided
Junctional epidermolysis bullosa
Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate

Criteria Provided
Multiple Submitters
No Conflicts

CA257309

rs_121912467

4 SubmittersRCV000015863 RCV000359496 RCV004586010 RCV005016272

NM_000213.5(ITGB4):c.3674G>A (p.Arg1225His)

SNV
Germline

Chr17:75750992

Pathogenic/Likely pathogenic

Junctional epidermolysis bullosa with pyloric atresia
Junctional epidermolysis bullosa

Criteria Provided
Multiple Submitters
No Conflicts

CA257310

rs_121912468

4 SubmittersRCV000015864 RCV005406745

NM_000213.5(ITGB4):c.2783-2A>G

SNV
Germline

Chr17:75742580

Pathogenic/Likely pathogenic

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA276008

rs_758551913

4 SubmittersRCV000190599 RCV003556234

NM_201384.3(PLEC):c.1405C>T (p.Gln469Ter)

SNV
Germline

Chr8:143933210

Pathogenic

Junctional epidermolysis bullosa with pyloric atresia

No Assertion Criteria Provided

CA10575770

rs_879255260

1 SubmittersRCV000239385

NM_000213.5(ITGB4):c.5329+2T>C

SNV
Germline

Chr17:75757312

Likely pathogenic

Epidermolysis bullosa simplex 1C, localized
Junctional epidermolysis bullosa, non-Herlitz type
Junctional epidermolysis bullosa with pyloric atresia

Criteria Provided
Single Submitter

CA8770556

rs_762236241

1 SubmittersRCV000490437

NM_000210.4(ITGA6):c.1374A>G (p.Ser458=)

SNV
Germline

Chr2:172476499

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1968100

rs_138908657

2 SubmittersRCV000350753 RCV000942264

NM_000210.4(ITGA6):c.2109G>A (p.Thr703=)

SNV
Germline

Chr2:172487402

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1968295

rs_141344340

2 SubmittersRCV000358517 RCV000917107

NM_000210.4(ITGA6):c.2861C>T (p.Ser954Leu)

SNV
Germline

Chr2:172491303

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 6, with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1968518

rs_565088728

3 SubmittersRCV000341392 RCV002488706 RCV003727689

NM_000210.4(ITGA6):c.2651A>G (p.Gln884Arg)

SNV
Germline

Chr2:172489630

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided
ITGA6-related disorder
Epidermolysis bullosa, junctional 6, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA1968442

rs_61757096

5 SubmittersRCV000388751 RCV002521333 RCV004757206 RCV005398459

NM_000210.4(ITGA6):c.2819C>T (p.Pro940Leu)

SNV
Germline

Chr2:172491261

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1968502

rs_138874769

2 SubmittersRCV000347958 RCV002057608

NM_000210.4(ITGA6):c.3006T>C (p.Phe1002=)

SNV
Germline

Chr2:172497992

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1968574

rs_139596061

2 SubmittersRCV000358668 RCV000963267

NM_000210.4(ITGA6):c.3075G>A (p.Gly1025=)

SNV
Germline

Chr2:172498061

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1968586

rs_368851699

2 SubmittersRCV000261791 RCV002523095

NM_000210.4(ITGA6):c.3132A>G (p.Arg1044=)

SNV
Germline

Chr2:172501789

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1968613

rs_143159110

2 SubmittersRCV000300621 RCV003727690

NM_000213.5(ITGB4):c.-125G>C

SNV
Germline

Chr17:75721498

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10640511

rs_552008042

3 SubmittersRCV000291660 RCV003221918

NM_000213.5(ITGB4):c.1095G>A (p.Arg365=)

SNV
Germline

Chr17:75731248

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided
ITGB4-related disorder

Criteria Provided
Conflicting Classifications

CA8768879

rs_141970956

3 SubmittersRCV000377681 RCV000942507 RCV003940288

NM_000213.5(ITGB4):c.1181G>A (p.Arg394Lys)

SNV
Germline

Chr17:75731334

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8768899

rs_144655991

3 SubmittersRCV000383527 RCV002523015 RCV004629188

NM_000213.5(ITGB4):c.1262C>T (p.Thr421Met)

SNV
Germline

Chr17:75731858

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8768950

rs_148535298

2 SubmittersRCV000389270 RCV002524439

NM_000213.5(ITGB4):c.1413C>T (p.Asn471=)

SNV
Germline

Chr17:75732198

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8769013

rs_375790655

2 SubmittersRCV000396459 RCV003718192

NM_000213.5(ITGB4):c.1581C>T (p.Gly527=)

SNV
Germline

Chr17:75733616

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8769062

rs_374868983

2 SubmittersRCV000361719 RCV003765885

NM_000213.5(ITGB4):c.1666C>T (p.Arg556Cys)

SNV
Germline

Chr17:75736059

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided
Inborn genetic diseases
Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate

Criteria Provided
Conflicting Classifications

CA8769097

rs_150166497

6 SubmittersRCV000301781 RCV001764294 RCV004021713 RCV005018680

NM_000213.5(ITGB4):c.2025C>T (p.Asp675=)

SNV
Germline

Chr17:75737356

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8769233

rs_202097958

2 SubmittersRCV000278921 RCV003574747

NM_000213.5(ITGB4):c.2422G>A (p.Ala808Thr)

SNV
Germline

Chr17:75740047

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided
Epidermolysis bullosa simplex 1C, localized
Inborn genetic diseases
Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate
ITGB4-related disorder

Criteria Provided
Conflicting Classifications

CA8769382

rs_147480547

7 SubmittersRCV000340007 RCV000996607 RCV001262484 RCV004984813 RCV005398440 RCV003957664

NM_000213.5(ITGB4):c.2782+10C>T

SNV
Germline

Chr17:75742499

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided
Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate

Criteria Provided
Conflicting Classifications

CA8769568

rs_757546708

3 SubmittersRCV000369900 RCV003105870 RCV005025456

NM_000213.5(ITGB4):c.2962+14G>A

SNV
Germline

Chr17:75742775

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8769636

rs_369351466

3 SubmittersRCV000319224 RCV002487434 RCV003765887

NM_000213.5(ITGB4):c.5243G>A (p.Arg1748His)

SNV
Germline

Chr17:75757224

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided
ITGB4-related disorder

Criteria Provided
Conflicting Classifications

CA8770529

rs_151053969

4 SubmittersRCV000386190 RCV002266953 RCV003950108

NM_000213.5(ITGB4):c.708C>T (p.Phe236=)

SNV
Germline

Chr17:75729406

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided
ITGB4-related disorder

Criteria Provided
Conflicting Classifications

CA8768748

rs_146923910

3 SubmittersRCV000356549 RCV000942505 RCV003912349

NM_000213.5(ITGB4):c.1560C>T (p.Cys520=)

SNV
Germline

Chr17:75733595

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8769058

rs_538635871

2 SubmittersRCV000297609 RCV003660782

NM_000213.5(ITGB4):c.1593C>T (p.Tyr531=)

SNV
Germline

Chr17:75733628

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8769065

rs_778102219

2 SubmittersRCV000267769 RCV003727680

NM_000213.5(ITGB4):c.3230G>T (p.Arg1077Leu)

SNV
Germline

Chr17:75748959

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided
Inborn genetic diseases
Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate

Criteria Provided
Conflicting Classifications

CA8769741

rs_201487753

4 SubmittersRCV000322588 RCV002523017 RCV002523018 RCV005025457

NM_000213.5(ITGB4):c.3598G>A (p.Gly1200Arg)

SNV
Germline

Chr17:75750803

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided
ITGB4-related disorder

Criteria Provided
Conflicting Classifications

CA8769876

rs_75129664

4 SubmittersRCV000403638 RCV000894709 RCV003912351

NM_000213.5(ITGB4):c.3858G>A (p.Glu1286=)

SNV
Germline

Chr17:75752238

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8769957

rs_372222796

2 SubmittersRCV000370688 RCV003698767

NM_000213.5(ITGB4):c.4589C>T (p.Thr1530Met)

SNV
Germline

Chr17:75755731

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided
ITGB4-related disorder

Criteria Provided
Conflicting Classifications

CA8770247

rs_140575355

4 SubmittersRCV000380822 RCV000914577 RCV003912352

NM_000213.5(ITGB4):c.5127C>T (p.Asn1709=)

SNV
Germline

Chr17:75757016

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8770473

rs_376733146

2 SubmittersRCV000325570 RCV002524442

NM_000213.5(ITGB4):c.5229G>A (p.Pro1743=)

SNV
Germline

Chr17:75757210

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided
ITGB4-related disorder

Criteria Provided
Conflicting Classifications

CA8770525

rs_140140182

3 SubmittersRCV000334052 RCV000904969 RCV003922381

NM_000213.5(ITGB4):c.1002+12A>G

SNV
Germline

Chr17:75730516

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8768831

rs_374003966

2 SubmittersRCV000316849 RCV002521122

NM_000213.5(ITGB4):c.1179G>A (p.Thr393=)

SNV
Germline

Chr17:75731332

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8768897

rs_772335175

2 SubmittersRCV000328912 RCV002056624

NM_000213.5(ITGB4):c.1377+7C>T

SNV
Germline

Chr17:75731980

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8768982

rs_200004156

3 SubmittersRCV000294990 RCV002056625

NM_000213.5(ITGB4):c.1749C>T (p.Ile583=)

SNV
Germline

Chr17:75736142

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8769111

rs_144302042

4 SubmittersRCV000271155 RCV001729536

NM_000213.5(ITGB4):c.2123C>T (p.Pro708Leu)

SNV
Germline

Chr17:75737547

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided
Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate

Criteria Provided
Conflicting Classifications

CA8769271

rs_146500584

3 SubmittersRCV000396730 RCV001859919 RCV002495030

NM_000213.5(ITGB4):c.2625C>T (p.Ala875=)

SNV
Germline

Chr17:75740997

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10650124

rs_561694657

2 SubmittersRCV000309168 RCV003765886

NM_000213.5(ITGB4):c.2634-8C>T

SNV
Germline

Chr17:75742333

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8769535

rs_749527800

2 SubmittersRCV000366281 RCV003542295

NM_000213.5(ITGB4):c.3624C>T (p.Ser1208=)

SNV
Germline

Chr17:75750829

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8769885

rs_145928221

2 SubmittersRCV000291309 RCV002056628

NM_000213.5(ITGB4):c.3655+10C>T

SNV
Germline

Chr17:75750870

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
ITGB4-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8769894

rs_767096926

3 SubmittersRCV000343897 RCV003897739 RCV003718194

NM_000213.5(ITGB4):c.4444C>T (p.Leu1482=)

SNV
Germline

Chr17:75754701

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8770115

rs_756626295

2 SubmittersRCV000320586 RCV003765888

NM_000213.5(ITGB4):c.4663C>T (p.Arg1555Trp)

SNV
Germline

Chr17:75755805

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided
Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate

Criteria Provided
Conflicting Classifications

CA8770267

rs_150277911

4 SubmittersRCV000350615 RCV003574748 RCV005018682

NM_000213.5(ITGB4):c.5013C>T (p.Ile1671=)

SNV
Germline

Chr17:75756819

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8770397

rs_372195997

2 SubmittersRCV000396349 RCV002524441

NM_000213.5(ITGB4):c.5053+10A>G

SNV
Germline

Chr17:75756869

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided
ITGB4-related disorder

Criteria Provided
Conflicting Classifications

CA10650146

rs_886053418

3 SubmittersRCV000304998 RCV003765889 RCV003922380

NM_000213.5(ITGB4):c.210G>A (p.Ala70=)

SNV
Germline

Chr17:75727451

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8768601

rs_200500313

3 SubmittersRCV000307065 RCV000896858

NM_000213.5(ITGB4):c.1032A>G (p.Ser344=)

SNV
Germline

Chr17:75730904

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided
ITGB4-related disorder

Criteria Provided
Conflicting Classifications

CA8768853

rs_145591069

3 SubmittersRCV000353021 RCV000942506 RCV003940287

NM_000213.5(ITGB4):c.1539C>T (p.Ser513=)

SNV
Germline

Chr17:75733574

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10650948

rs_886053410

2 SubmittersRCV000400149 RCV003669132

NM_000213.5(ITGB4):c.2784C>T (p.Asp928=)

SNV
Germline

Chr17:75742583

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8769588

rs_201900480

3 SubmittersRCV000277812 RCV000842262

NM_000213.5(ITGB4):c.2833C>T (p.Arg945Trp)

SNV
Germline

Chr17:75742632

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided
Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate

Criteria Provided
Conflicting Classifications

CA8769597

rs_150668075

3 SubmittersRCV000330491 RCV003718193 RCV005018681

NM_000213.5(ITGB4):c.3057C>T (p.Gly1019=)

SNV
Germline

Chr17:75743807

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided
Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate
ITGB4-related disorder

Criteria Provided
Conflicting Classifications

CA8769683

rs_139146525

4 SubmittersRCV000371609 RCV003556336 RCV002504102 RCV004748731

NM_000213.5(ITGB4):c.4319-7C>G

SNV
Germline

Chr17:75754569

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8770080

rs_376011638

2 SubmittersRCV000317453 RCV002523019

NM_000213.5(ITGB4):c.5053+14C>T

SNV
Germline

Chr17:75756873

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8770409

rs_78884789

3 SubmittersRCV000362066 RCV001556550

NM_000213.5(ITGB4):c.5219-15A>G

SNV
Germline

Chr17:75757185

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8770516

rs_142184100

3 SubmittersRCV000276703 RCV002056629

NM_000213.5(ITGB4):c.2986C>T (p.Gln996Ter)

SNV
Germline

Chr17:75743736

Likely pathogenic

Junctional epidermolysis bullosa with pyloric atresia

Criteria Provided
Multiple Submitters
No Conflicts

CA8769662

rs_772142634

2 SubmittersRCV000454275

NM_000213.5(ITGB4):c.2550+1G>A

SNV
Germline

Chr17:75740462

Likely pathogenic

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA8769443

rs_545619665

2 SubmittersRCV000779230 RCV003688883

NM_000213.5(ITGB4):c.2922C>T (p.Leu974=)

SNV
Germline

Chr17:75742721

Conflicting classifications of pathogenicity

Condition: not provided
Junctional epidermolysis bullosa with pyloric atresia

Criteria Provided
Conflicting Classifications

CA8769622

rs_139130590

3 SubmittersRCV000954311 RCV001128251

NM_000213.5(ITGB4):c.5172C>T (p.Phe1724=)

SNV
Germline

Chr17:75757061

Conflicting classifications of pathogenicity

Condition: not provided
Junctional epidermolysis bullosa with pyloric atresia
ITGB4-related disorder

Criteria Provided
Conflicting Classifications

CA8770479

rs_144339436

5 SubmittersRCV000968359 RCV001122722 RCV003916256

NM_000213.5(ITGB4):c.312A>G (p.Gln104=)

SNV
Germline

Chr17:75727698

Conflicting classifications of pathogenicity

Condition: not provided
Junctional epidermolysis bullosa with pyloric atresia
ITGB4-related disorder

Criteria Provided
Conflicting Classifications

CA8768637

rs_568835164

3 SubmittersRCV000887509 RCV001124982 RCV003920689

NM_000213.5(ITGB4):c.1446C>T (p.Ser482=)

SNV
Germline

Chr17:75732231

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa, junctional 5A, intermediate
Junctional epidermolysis bullosa with pyloric atresia

Criteria Provided
Conflicting Classifications

CA8769022

rs_8080369

2 SubmittersRCV000897202 RCV005021275

NM_000213.5(ITGB4):c.1884C>T (p.Asp628=)

SNV
Germline

Chr17:75736588

Conflicting classifications of pathogenicity

Condition: not provided
Junctional epidermolysis bullosa with pyloric atresia

Criteria Provided
Conflicting Classifications

CA8769177

rs_140078827

2 SubmittersRCV000897930 RCV001126064

NM_000213.5(ITGB4):c.3427A>G (p.Ile1143Val)

SNV
Germline

Chr17:75750221

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa, junctional 5A, intermediate
Junctional epidermolysis bullosa with pyloric atresia
ITGB4-related disorder

Criteria Provided
Conflicting Classifications

CA8769824

rs_149481974

4 SubmittersRCV000910699 RCV002502734 RCV004749534

NM_000213.5(ITGB4):c.4389G>A (p.Thr1463=)

SNV
Germline

Chr17:75754646

Conflicting classifications of pathogenicity

Condition: not provided
Junctional epidermolysis bullosa with pyloric atresia

Criteria Provided
Conflicting Classifications

CA8770100

rs_574417789

2 SubmittersRCV000906237 RCV001122618

NM_000210.4(ITGA6):c.3000T>C (p.Thr1000=)

SNV
Germline

Chr2:172497986

Conflicting classifications of pathogenicity

Condition: not provided
Junctional epidermolysis bullosa with pyloric atresia

Criteria Provided
Conflicting Classifications

CA1968571

rs_751960466

2 SubmittersRCV000921775 RCV001131345

NM_000213.5(ITGB4):c.3501C>T (p.Ser1167=)

SNV
Germline

Chr17:75750706

Conflicting classifications of pathogenicity

Condition: not provided
Junctional epidermolysis bullosa with pyloric atresia

Criteria Provided
Conflicting Classifications

CA8769854

rs_141513851

2 SubmittersRCV000913290 RCV001125311

NM_000210.4(ITGA6):c.2169G>A (p.Gln723=)

SNV
Germline

Chr2:172487555

Conflicting classifications of pathogenicity

Condition: not provided
Junctional epidermolysis bullosa with pyloric atresia

Criteria Provided
Conflicting Classifications

CA1968323

rs_149917878

2 SubmittersRCV000944033 RCV001135712

NM_000213.5(ITGB4):c.537C>T (p.Ser179=)

SNV
Germline

Chr17:75728444

Conflicting classifications of pathogenicity

Condition: not provided
Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate

Criteria Provided
Conflicting Classifications

CA8768695

rs_201538482

2 SubmittersRCV000935853 RCV005029537

NM_000213.5(ITGB4):c.2834G>A (p.Arg945Gln)

SNV
Germline

Chr17:75742633

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate
ITGB4-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8769598

rs_141953294

5 SubmittersRCV000990061 RCV002489462 RCV003392719 RCV003769305

NM_000213.5(ITGB4):c.759G>A (p.Pro253=)

SNV
Germline

Chr17:75730261

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8768779

rs_776214034

2 SubmittersRCV001125951 RCV002070058

NM_000213.5(ITGB4):c.852C>T (p.Asn284=)

SNV
Germline

Chr17:75730354

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8768794

rs_529755730

4 SubmittersRCV001125952 RCV003718346 RCV005348327

NM_000213.5(ITGB4):c.1113C>T (p.Asp371=)

SNV
Germline

Chr17:75731266

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8768882

rs_772224695

2 SubmittersRCV001128065 RCV003708574

NM_000213.5(ITGB4):c.1345G>A (p.Gly449Ser)

SNV
Germline

Chr17:75731941

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided
Epidermolysis bullosa, junctional 5A, intermediate
Junctional epidermolysis bullosa with pyloric atresia

Criteria Provided
Conflicting Classifications

CA8768975

rs_147963396

6 SubmittersRCV001122300 RCV001355124 RCV002491379

NM_000213.5(ITGB4):c.1428C>T (p.Cys476=)

SNV
Germline

Chr17:75732213

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8769017

rs_149030156

3 SubmittersRCV001122301 RCV002069991

NM_000213.5(ITGB4):c.2067C>T (p.Asp689=)

SNV
Germline

Chr17:75737398

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA294066791

rs_1020515752

2 SubmittersRCV001128155 RCV003698839

NM_000213.5(ITGB4):c.2145C>T (p.Ile715=)

SNV
Germline

Chr17:75737569

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided
ITGB4-related disorder

Criteria Provided
Conflicting Classifications

CA8769275

rs_140999738

3 SubmittersRCV001122424 RCV002069996 RCV003918709

NM_000213.5(ITGB4):c.2241G>A (p.Pro747=)

SNV
Germline

Chr17:75739692

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided
ITGB4-related disorder

Criteria Provided
Conflicting Classifications

CA8769314

rs_377428995

3 SubmittersRCV001122425 RCV003688904 RCV003898121

NM_000213.5(ITGB4):c.2503C>A (p.Pro835Thr)

SNV
Germline

Chr17:75740414

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate
Junctional epidermolysis bullosa with pyloric atresia
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8769426

rs_183705877

5 SubmittersRCV001122427 RCV002482229 RCV002558213 RCV002556638

NM_000213.5(ITGB4):c.2638G>A (p.Asp880Asn)

SNV
Germline

Chr17:75742345

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8769537

rs_139092703

3 SubmittersRCV001125202 RCV002256685

NM_000213.5(ITGB4):c.2670G>A (p.Ala890=)

SNV
Germline

Chr17:75742377

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8769541

rs_146449374

2 SubmittersRCV001125203 RCV003558689

NM_000213.5(ITGB4):c.2701C>T (p.Leu901Phe)

SNV
Germline

Chr17:75742408

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8769556

rs_145644205

4 SubmittersRCV001126181 RCV001788418

NM_000213.5(ITGB4):c.2865C>T (p.Asp955=)

SNV
Germline

Chr17:75742664

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8769605

rs_780448706

2 SubmittersRCV001128249 RCV003769227

NM_000213.5(ITGB4):c.2918C>A (p.Thr973Asn)

SNV
Germline

Chr17:75742717

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8769620

rs_146391318

2 SubmittersRCV001128250 RCV002556804

NM_000213.5(ITGB4):c.3099G>A (p.Ala1033=)

SNV
Germline

Chr17:75743849

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided
ITGB4-related disorder

Criteria Provided
Conflicting Classifications

CA8769691

rs_145314226

3 SubmittersRCV001122523 RCV003546632 RCV003918710

NM_000213.5(ITGB4):c.3205T>C (p.Ser1069Pro)

SNV
Germline

Chr17:75748934

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided
Epidermolysis bullosa, junctional 5A, intermediate
Junctional epidermolysis bullosa with pyloric atresia

Criteria Provided
Conflicting Classifications

CA8769733

rs_530916890

3 SubmittersRCV001122525 RCV002556641 RCV005021460

NM_000213.5(ITGB4):c.4440C>T (p.Arg1480=)

SNV
Germline

Chr17:75754697

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8770113

rs_781085072

2 SubmittersRCV001122620 RCV003727876

NM_000213.5(ITGB4):c.4788C>T (p.Tyr1596=)

SNV
Germline

Chr17:75756508

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided
ITGB4-related disorder

Criteria Provided
Conflicting Classifications

CA8770316

rs_369145421

3 SubmittersRCV001126378 RCV002070067 RCV003953502

NM_000213.5(ITGB4):c.5106C>T (p.Thr1702=)

SNV
Germline

Chr17:75756995

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8770466

rs_754832163

2 SubmittersRCV001122721 RCV003727877

NM_000213.5(ITGB4):c.5264C>T (p.Pro1755Leu)

SNV
Germline

Chr17:75757245

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided
Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate

Criteria Provided
Conflicting Classifications

CA8770536

rs_140577812

4 SubmittersRCV001123812 RCV001882406 RCV002480498

NM_000213.5(ITGB4):c.5313C>T (p.Thr1771=)

SNV
Germline

Chr17:75757294

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8770550

rs_138707718

2 SubmittersRCV001123814 RCV003718345

NM_000213.5(ITGB4):c.5434A>G (p.Ser1812Gly)

SNV
Germline

Chr17:75757520

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided
Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate

Criteria Provided
Conflicting Classifications

CA8770607

rs_755224034

3 SubmittersRCV001126460 RCV003769214 RCV005021470

NM_000213.5(ITGB4):c.162+9C>T

SNV
Germline

Chr17:75727286

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8768564

rs_200853535

2 SubmittersRCV001122208 RCV002556631

NM_000213.5(ITGB4):c.2551-10T>C

SNV
Germline

Chr17:75740783

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA775084377

rs_1294215890

2 SubmittersRCV001125199 RCV003669191

NM_000213.5(ITGB4):c.2609+7C>T

SNV
Germline

Chr17:75740858

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8769492

rs_368466242

2 SubmittersRCV001125201 RCV003769208

NM_000213.5(ITGB4):c.2962+11G>A

SNV
Germline

Chr17:75742772

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA294074341

rs_554755694

2 SubmittersRCV001128253 RCV003669193

NM_000213.5(ITGB4):c.3112-3C>T

SNV
Germline

Chr17:75748838

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided
not specified
Epidermolysis bullosa, junctional 5A, intermediate
Junctional epidermolysis bullosa with pyloric atresia

Criteria Provided
Conflicting Classifications

CA8769716

rs_151033645

7 SubmittersRCV001122524 RCV001856614 RCV002249733 RCV002491381

NM_000213.5(ITGB4):c.3794-9C>T

SNV
Germline

Chr17:75752165

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided
ITGB4-related disorder

Criteria Provided
Conflicting Classifications

CA8769947

rs_369461189

3 SubmittersRCV001126283 RCV001856652 RCV003906241

NM_000213.5(ITGB4):c.3977-4G>A

SNV
Germline

Chr17:75752442

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8770006

rs_369841673

2 SubmittersRCV001128332 RCV003769228

NM_000213.5(ITGB4):c.5053+15G>A

SNV
Germline

Chr17:75756874

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8770412

rs_375178466

2 SubmittersRCV001128426 RCV003769231

NM_000213.5(ITGB4):c.5054-11T>C

SNV
Germline

Chr17:75756932

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8770436

rs_774785239

2 SubmittersRCV001128427 RCV003688913

NM_000210.4(ITGA6):c.759T>G (p.Pro253=)

SNV
Germline

Chr2:172471089

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1967900

rs_200561616

2 SubmittersRCV001130520 RCV003574836

NM_000210.4(ITGA6):c.1850T>C (p.Ile617Thr)

SNV
Germline

Chr2:172485260

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided
Epidermolysis bullosa, junctional 6, with pyloric atresia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1968229

rs_148815652

6 SubmittersRCV001134216 RCV001354872 RCV002491402 RCV004032297

NM_000210.4(ITGA6):c.3069C>T (p.Leu1023=)

SNV
Germline

Chr2:172498055

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1968584

rs_748279299

2 SubmittersRCV001134345 RCV003769634

NM_000210.4(ITGA6):c.1269+14C>G

SNV
Germline

Chr2:172475699

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1968070

rs_199737747

2 SubmittersRCV001131247 RCV002070531

NM_000210.4(ITGA6):c.2680-14A>G

SNV
Germline

Chr2:172491010

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1968465

rs_202105422

2 SubmittersRCV001128721 RCV003769236

NM_000213.5(ITGB4):c.4051G>A (p.Asp1351Asn)

SNV
Germline

Chr17:75752520

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate

Criteria Provided
Conflicting Classifications

CA8770016

rs_769852038

3 SubmittersRCV001340726 RCV003382537 RCV005023061

NM_000213.5(ITGB4):c.701G>T (p.Gly234Val)

SNV
Germline

Chr17:75729399

Pathogenic

Junctional epidermolysis bullosa with pyloric atresia

Criteria Provided
Single Submitter

CA401041535

rs_1038415538

1 SubmittersRCV001352841

NM_000213.5(ITGB4):c.847C>T (p.Arg283Cys)

SNV
Germline

Chr17:75730349

Pathogenic

Junctional epidermolysis bullosa with pyloric atresia

Criteria Provided
Single Submitter

CA401042469

rs_1422797135

1 SubmittersRCV001352874

NM_000213.5(ITGB4):c.997T>G (p.Tyr333Asp)

SNV
Germline

Chr17:75730499

Pathogenic/Likely pathogenic

Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate
Junctional epidermolysis bullosa with pyloric atresia

Criteria Provided
Multiple Submitters
No Conflicts

CA8768824

rs_761952496

2 SubmittersRCV001352875 RCV005014474

NM_000213.5(ITGB4):c.1370G>A (p.Cys457Tyr)

SNV
Germline

Chr17:75731966

Pathogenic

Junctional epidermolysis bullosa with pyloric atresia

Criteria Provided
Single Submitter

CA401047897

rs_2060870463

1 SubmittersRCV001352876

NM_000213.5(ITGB4):c.2012G>C (p.Cys671Ser)

SNV
Germline

Chr17:75737343

Pathogenic

Junctional epidermolysis bullosa with pyloric atresia

Criteria Provided
Single Submitter

CA401058162

rs_2061001234

1 SubmittersRCV001352877

NM_000213.5(ITGB4):c.2465T>C (p.Leu822Ser)

SNV
Germline

Chr17:75740376

Pathogenic

Junctional epidermolysis bullosa with pyloric atresia

Criteria Provided
Single Submitter

CA294070084

rs_902551587

1 SubmittersRCV001352878

NM_000213.5(ITGB4):c.2633+1G>A

SNV
Germline

Chr17:75741006

Pathogenic/Likely pathogenic

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA401066880

rs_1348061804

2 SubmittersRCV001352879 RCV003565479

NM_000213.5(ITGB4):c.3040C>T (p.Arg1014Trp)

SNV
Germline

Chr17:75743790

Pathogenic

Junctional epidermolysis bullosa with pyloric atresia

Criteria Provided
Single Submitter

CA401071005

rs_1164329850

1 SubmittersRCV001352880

NM_000213.5(ITGB4):c.469+5G>A

SNV
Germline

Chr17:75727860

Conflicting classifications of pathogenicity

Condition: not provided
Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate

Criteria Provided
Conflicting Classifications

CA8768666

rs_141369871

3 SubmittersRCV001355619 RCV002486478

NM_000213.5(ITGB4):c.599C>T (p.Pro200Leu)

SNV
Germline

Chr17:75729297

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa, junctional 5A, intermediate
Junctional epidermolysis bullosa with pyloric atresia
ITGB4-related disorder

Criteria Provided
Conflicting Classifications

CA8768728

rs_148770294

5 SubmittersRCV001355966 RCV005014479 RCV004749666

NM_000213.5(ITGB4):c.1135C>T (p.Arg379Ter)

SNV
Germline

Chr17:75731288

Pathogenic/Likely pathogenic

Abnormality of the skin
Condition: not provided
Epidermolysis bullosa, junctional 5A, intermediate
Junctional epidermolysis bullosa with pyloric atresia

Criteria Provided
Multiple Submitters
No Conflicts

CA8768886

rs_777045339

3 SubmittersRCV001814580 RCV004809668 RCV005014582

NM_000213.5(ITGB4):c.4709-8C>A

SNV
Germline

Chr17:75756421

Conflicting classifications of pathogenicity

Condition: not provided
ITGB4-related disorder
Epidermolysis bullosa, junctional 5A, intermediate
Junctional epidermolysis bullosa with pyloric atresia

Criteria Provided
Conflicting Classifications

CA8770296

rs_371797130

4 SubmittersRCV001583366 RCV003948622 RCV002495930

NM_000213.5(ITGB4):c.3793+1G>C

SNV
Germline

Chr17:75751112

Pathogenic

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided

Criteria Provided
Single Submitter

CA401077496

rs_147222357

2 SubmittersRCV001844362 RCV001780424

NM_000213.5(ITGB4):c.5301C>T (p.His1767=)

SNV
Germline

Chr17:75757282

Conflicting classifications of pathogenicity

Condition: not provided
Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate

Criteria Provided
Conflicting Classifications

CA294085103

rs_963564866

3 SubmittersRCV001799827 RCV005023261

NM_000213.5(ITGB4):c.4018G>A (p.Gly1340Arg)

SNV
Germline

Chr17:75752487

Conflicting classifications of pathogenicity

Condition: not provided
Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate
Junctional epidermolysis bullosa with pyloric atresia

Criteria Provided
Conflicting Classifications

CA8770011

rs_140930313

3 SubmittersRCV001974928 RCV002484697 RCV004762265

NM_000213.5(ITGB4):c.502A>G (p.Thr168Ala)

SNV
Germline

Chr17:75728409

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8768691

rs_139287033

2 SubmittersRCV002486772 RCV002034330

NM_000213.5(ITGB4):c.1343C>T (p.Ala448Val)

SNV
Germline

Chr17:75731939

Conflicting classifications of pathogenicity

Condition: not provided
Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8768973

rs_144804175

3 SubmittersRCV002046517 RCV002507829 RCV002551199

NM_000213.5(ITGB4):c.3221G>A (p.Arg1074His)

SNV
Germline

Chr17:75748950

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa, junctional 5A, intermediate
Junctional epidermolysis bullosa with pyloric atresia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8769738

rs_147026529

4 SubmittersRCV002044160 RCV002482417 RCV002545338

NM_000213.5(ITGB4):c.1878C>T (p.Cys626=)

SNV
Germline

Chr17:75736582

Conflicting classifications of pathogenicity

Condition: not provided
Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate

Criteria Provided
Conflicting Classifications

CA8769174

rs_373343133

2 SubmittersRCV002106388 RCV005025711

NM_000213.5(ITGB4):c.2254+1G>T

SNV
Germline

Chr17:75739706

Pathogenic/Likely pathogenic

Condition: not provided
Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate

Criteria Provided
Multiple Submitters
No Conflicts

CA294069137

rs_201310681

3 SubmittersRCV002306133 RCV005025786

NM_000213.5(ITGB4):c.3810G>A (p.Met1270Ile)

SNV
Germline

Chr17:75752190

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8769950

rs_373133055

3 SubmittersRCV005019207 RCV002462467

NM_000213.5(ITGB4):c.232G>A (p.Val78Met)

SNV
Germline

Chr17:75727473

Conflicting classifications of pathogenicity

Condition: not provided
Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA294058272

rs_557836108

3 SubmittersRCV003100413 RCV005021561 RCV004634175

NM_000213.5(ITGB4):c.4462C>T (p.Leu1488Phe)

SNV
Germline

Chr17:75754719

Conflicting classifications of pathogenicity

Condition: not provided
Junctional epidermolysis bullosa with pyloric atresia
ITGB4-related disorder
Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate

Criteria Provided
Conflicting Classifications

CA8770122

rs_548288813

4 SubmittersRCV002573753 RCV003340504 RCV003933800 RCV005025851

NM_000213.5(ITGB4):c.4430T>C (p.Val1477Ala)

SNV
Germline

Chr17:75754687

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided
Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate

Criteria Provided
Conflicting Classifications

CA294084520

rs_374564280

3 SubmittersRCV002780975 RCV002780974 RCV005019390

NM_000213.5(ITGB4):c.4558G>A (p.Asp1520Asn)

SNV
Germline

Chr17:75754815

Conflicting classifications of pathogenicity

Condition: not provided
Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate
Inborn genetic diseases
Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate

Criteria Provided
Conflicting Classifications

CA8770143

rs_149237647

4 SubmittersRCV002927139 RCV003147799 RCV003147800 RCV004617112 RCV005028023

NM_000213.5(ITGB4):c.407T>A (p.Met136Lys)

SNV
Germline

Chr17:75727793

Conflicting classifications of pathogenicity

Condition: not provided
Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate

Criteria Provided
Conflicting Classifications

CA8768658

rs_146338793

2 SubmittersRCV002914838 RCV005028035

NM_000213.5(ITGB4):c.14G>A (p.Arg5His)

SNV
Germline

Chr17:75724717

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate

Criteria Provided
Conflicting Classifications

CA8768513

rs_374855840

3 SubmittersRCV002999248 RCV004983251 RCV005019544

NM_000213.5(ITGB4):c.4438C>T (p.Arg1480Cys)

SNV
Germline

Chr17:75754695

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided
Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate

Criteria Provided
Conflicting Classifications

CA8770110

rs_61735299

3 SubmittersRCV002664833 RCV003574980 RCV005021669

NM_000213.5(ITGB4):c.935G>A (p.Arg312His)

SNV
Germline

Chr17:75730437

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided
Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate

Criteria Provided
Conflicting Classifications

CA8768808

rs_750898335

3 SubmittersRCV002924548 RCV003720694 RCV005021726

NM_000213.5(ITGB4):c.2521G>A (p.Ala841Thr)

SNV
Germline

Chr17:75740432

Conflicting classifications of pathogenicity

Condition: not provided
Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate

Criteria Provided
Conflicting Classifications

CA8769433

rs_199531912

3 SubmittersRCV003234385 RCV005029949

NM_000213.5(ITGB4):c.2905G>A (p.Ala969Thr)

SNV
Germline

Chr17:75742704

Conflicting classifications of pathogenicity

Inborn genetic diseases
Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate

Criteria Provided
Conflicting Classifications

CA8769617

rs_55748088

2 SubmittersRCV003296038 RCV005021899

NM_000213.5(ITGB4):c.2446+8C>T

SNV
Germline

Chr17:75740079

Conflicting classifications of pathogenicity

Condition: not provided
Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate

Criteria Provided
Conflicting Classifications

CA8769386

rs_772734108

2 SubmittersRCV003579665 RCV005030099

NM_000213.5(ITGB4):c.5053+1G>A

SNV
Germline

Chr17:75756860

Likely pathogenic

Condition: not provided
Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate

Criteria Provided
Multiple Submitters
No Conflicts

CA8770407

rs_748223473

2 SubmittersRCV003562363 RCV005014784

NM_000213.5(ITGB4):c.3640C>T (p.Arg1214Cys)

SNV
Germline

Chr17:75750845

Conflicting classifications of pathogenicity

Condition: not provided
Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate

Criteria Provided
Conflicting Classifications

CA8769888

rs_571861704

2 SubmittersRCV003570273 RCV005014805

NM_000213.5(ITGB4):c.3591C>T (p.Cys1197=)

SNV
Germline

Chr17:75750796

Conflicting classifications of pathogenicity

Condition: not provided
Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate

Criteria Provided
Conflicting Classifications

CA8769872

rs_766165249

2 SubmittersRCV003671054 RCV005030157

NM_000213.5(ITGB4):c.3316+16G>A

SNV
Germline

Chr17:75749061

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa, junctional 5A, intermediate
Junctional epidermolysis bullosa with pyloric atresia

Criteria Provided
Conflicting Classifications

CA8769763

rs_780453463

2 SubmittersRCV003678936 RCV005014849

NM_000213.5(ITGB4):c.1860G>A (p.Ala620=)

SNV
Germline

Chr17:75736386

Pathogenic/Likely pathogenic

Condition: not provided
Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate

Criteria Provided
Multiple Submitters
No Conflicts

CA294065615

rs_1002936688

2 SubmittersRCV003700874 RCV005014878

NM_000213.5(ITGB4):c.2833C>A (p.Arg945=)

SNV
Germline

Chr17:75742632

Conflicting classifications of pathogenicity

Condition: not provided
Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate

Criteria Provided
Conflicting Classifications

CA501838351

rs_150668075

2 SubmittersRCV003708417 RCV005014884

NM_000213.5(ITGB4):c.1609G>A (p.Glu537Lys)

SNV
Germline

Chr17:75733644

Conflicting classifications of pathogenicity

Condition: not provided
Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate

Criteria Provided
Conflicting Classifications

CA8769066

rs_749548974

2 SubmittersRCV003724884 RCV005014894

NM_000213.5(ITGB4):c.989A>G (p.Tyr330Cys)

SNV
Germline

Chr17:75730491

Conflicting classifications of pathogenicity

Condition: not provided
Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate

Criteria Provided
Conflicting Classifications

CA8768821

rs_370664880

2 SubmittersRCV003725959 RCV005014904

NM_000213.5(ITGB4):c.2930G>A (p.Arg977His)

SNV
Germline

Chr17:75742729

Conflicting classifications of pathogenicity

Condition: not provided
Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate

Criteria Provided
Conflicting Classifications

CA8769627

rs_762167755

2 SubmittersRCV003739890 RCV005030240

NM_000213.5(ITGB4):c.2477G>A (p.Arg826His)

SNV
Germline

Chr17:75740388

Conflicting classifications of pathogenicity

Condition: not provided
Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate

Criteria Provided
Conflicting Classifications

CA8769421

rs_200694443

2 SubmittersRCV003734152 RCV005014927

NM_000213.5(ITGB4):c.1540G>A (p.Gly514Ser)

SNV
Germline

Chr17:75733575

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate

Criteria Provided
Conflicting Classifications

CA8769052

rs_746401769

3 SubmittersRCV003734925 RCV004985580 RCV005014935

NM_000213.5(ITGB4):c.1178C>T (p.Thr393Met)

SNV
Germline

Chr17:75731331

Conflicting classifications of pathogenicity

Condition: not provided
Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate

Criteria Provided
Conflicting Classifications

CA8768895

rs_752599095

2 SubmittersRCV003737940 RCV005030258

NM_000213.5(ITGB4):c.3373G>A (p.Gly1125Ser)

SNV
Germline

Chr17:75750167

Conflicting classifications of pathogenicity

Condition: not provided
Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate

Criteria Provided
Conflicting Classifications

CA8769808

rs_147695826

2 SubmittersRCV003739087 RCV005014943

NM_000213.5(ITGB4):c.3105C>T (p.Gly1035=)

SNV
Germline

Chr17:75743855

Conflicting classifications of pathogenicity

Condition: not provided
Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate

Criteria Provided
Conflicting Classifications

CA8769692

rs_147635062

2 SubmittersRCV003820865 RCV005015000

NM_000213.5(ITGB4):c.4559-16G>A

SNV
Germline

Chr17:75755685

Conflicting classifications of pathogenicity

Condition: not provided
Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate

Criteria Provided
Conflicting Classifications

CA8770236

rs_749368644

2 SubmittersRCV003832742 RCV005030300

NM_000213.5(ITGB4):c.1216-9C>A

SNV
Germline

Chr17:75731803

Conflicting classifications of pathogenicity

Condition: not provided
Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate

Criteria Provided
Conflicting Classifications

CA8768937

rs_755004951

2 SubmittersRCV003852742 RCV005015041

NM_000213.5(ITGB4):c.5257C>T (p.Gln1753Ter)

SNV
Germline

Chr17:75757238

Pathogenic/Likely pathogenic

Condition: not provided
Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate

Criteria Provided
Multiple Submitters
No Conflicts

CA401094299

rs_2061536929

2 SubmittersRCV003865411 RCV005015052

NM_000213.5(ITGB4):c.2984A>G (p.Glu995Gly)

SNV
Germline

Chr17:75743734

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Epidermolysis bullosa, junctional 5A, intermediate
Junctional epidermolysis bullosa with pyloric atresia

Criteria Provided
Conflicting Classifications

CA8769661

rs_374504143

3 SubmittersRCV003863481 RCV004987110 RCV005015055

NM_000213.5(ITGB4):c.1173G>C (p.Gln391His)

SNV
Germline

Chr17:75731326

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa, junctional 5A, intermediate
Junctional epidermolysis bullosa with pyloric atresia

Criteria Provided
Conflicting Classifications

CA8768894

rs_767417049

2 SubmittersRCV003873518 RCV005015064

NM_000213.5(ITGB4):c.285C>T (p.Thr95=)

SNV
Germline

Chr17:75727671

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa, junctional 5A, intermediate
Junctional epidermolysis bullosa with pyloric atresia

Criteria Provided
Conflicting Classifications

CA8768625

rs_373041337

2 SubmittersRCV003871317 RCV005015070

NM_000213.5(ITGB4):c.331C>T (p.Arg111Trp)

SNV
Germline

Chr17:75727717

Conflicting classifications of pathogenicity

Condition: not provided
ITGB4-related disorder
Epidermolysis bullosa, junctional 5A, intermediate
Junctional epidermolysis bullosa with pyloric atresia

Criteria Provided
Conflicting Classifications

CA8768643

rs_141385926

3 SubmittersRCV003870194 RCV003949073 RCV005030347

NM_000213.5(ITGB4):c.3842G>C (p.Arg1281Pro)

SNV
Germline

Chr17:75752222

Pathogenic

Junctional epidermolysis bullosa with pyloric atresia

Criteria Provided
Single Submitter

1 SubmittersRCV004596065

NM_000213.5(ITGB4):c.214T>C (p.Cys72Arg)

SNV
Germline

Chr17:75727455

Likely pathogenic

Junctional epidermolysis bullosa with pyloric atresia

Criteria Provided
Single Submitter

1 SubmittersRCV004776540

NM_000213.5(ITGB4):c.1462C>T (p.Gln488Ter)

SNV
Germline

Chr17:75733497

Pathogenic

Junctional epidermolysis bullosa with pyloric atresia

Criteria Provided
Single Submitter

1 SubmittersRCV004776541

NM_000213.5(ITGB4):c.4903G>A (p.Ala1635Thr)

SNV
Germline

Chr17:75756709

Conflicting classifications of pathogenicity

Inborn genetic diseases
Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004989529 RCV005017351

NM_000213.5(ITGB4):c.754C>T (p.Arg252Cys)

SNV
Germline

Chr17:75730256

Pathogenic/Likely pathogenic

Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005022641 RCV005112691

NM_000213.5(ITGB4):c.999C>A (p.Tyr333Ter)

SNV
Germline

Chr17:75730501

Likely pathogenic

Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate

Criteria Provided
Single Submitter

1 SubmittersRCV005022644

NM_000213.5(ITGB4):c.2395C>T (p.Gln799Ter)

SNV
Germline

Chr17:75740020

Likely pathogenic

Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate

Criteria Provided
Single Submitter

1 SubmittersRCV005022674

NM_000213.5(ITGB4):c.2610-1G>A

SNV
Germline

Chr17:75740981

Likely pathogenic

Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate

Criteria Provided
Single Submitter

1 SubmittersRCV005026078

NM_000213.5(ITGB4):c.3719G>A (p.Trp1240Ter)

SNV
Germline

Chr17:75751037

Pathogenic

Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005022712 RCV005112692

NM_000213.5(ITGB4):c.3759C>A (p.Tyr1253Ter)

SNV
Germline

Chr17:75751077

Likely pathogenic

Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate

Criteria Provided
Single Submitter

1 SubmittersRCV005022714

NM_000213.5(ITGB4):c.3874C>T (p.Gln1292Ter)

SNV
Germline

Chr17:75752254

Likely pathogenic

Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate

Criteria Provided
Single Submitter

1 SubmittersRCV005026102

NM_000213.5(ITGB4):c.4108+1G>A

SNV
Germline

Chr17:75752578

Likely pathogenic

Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate

Criteria Provided
Single Submitter

1 SubmittersRCV005026105

NM_000213.5(ITGB4):c.4319-2A>G

SNV
Germline

Chr17:75754574

Likely pathogenic

Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate

Criteria Provided
Single Submitter

1 SubmittersRCV005026106

NM_000213.5(ITGB4):c.4744C>T (p.Gln1582Ter)

SNV
Germline

Chr17:75756464

Likely pathogenic

Junctional epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, junctional 5A, intermediate

Criteria Provided
Single Submitter

1 SubmittersRCV005022735

NM_000213.5(ITGB4):c.1813C>T (p.Gln605Ter)

SNV
Germline

Chr17:75736339

Likely pathogenic

Junctional epidermolysis bullosa with pyloric atresia

Criteria Provided
Single Submitter

1 SubmittersRCV005362058