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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Ectodermal Dysplasia (D004476)
..Starting node ..Epidermolysis bullosa with pyloric atresia (C535377)
Child Nodes:
Sister Nodes:
..Adams Oliver syndrome (C538225)
..Alves Castelo dos Santos syndrome (C536593)
..Anal sphincter dysplasia (C538254)
..Aplasia cutis congenita intestinal lymphangiectasia (C537788)
..Aplasia cutis congenita of limbs recessive (C536840)
..Aplasia Cutis Congenita with Epibulbar Dermoids (C563969)
..Aplasia Cutis Congenita, Congenital Heart Defect, And Frontonasal Cysts (C566997)
..Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction (C563394)
..AREDYLD Syndrome (C537427)
..Arthrogryposis and ectodermal dysplasia (C537441)
..Basan syndrome (C537659)
..Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And (C564519)
..Brunoni syndrome (C537408)
..Cardiofaciocutaneous syndrome (C535579)
..Cerebellar ataxia ectodermal dysplasia (C535350)
..Cleft Lip with or without Cleft Palate, Nonsyndromic, 8 (C565070)
..Congenital ectodermal dysplasia with hearing loss (C535757)
..CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA (OMIM:617364)
..Contractures ectodermal dysplasia cleft lip palate (C535465)
..Cranioectodermal Dysplasia (C562966) 1
..Deafness with Anhidrotic Ectodermal Dysplasia (C565119)
..Dermatoosteolysis Kirghizian type (C535373)
..Ectodermal Dysplasia 1, Anhidrotic (D053358) 1
..ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT (OMIM:614940)
..ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE (OMIM:617337)
..ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE (OMIM:617392)
..Ectodermal Dysplasia 3, Anhidrotic (D053359)
..ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE (OMIM:602032)
..ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE (OMIM:614929)
..ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE (OMIM:614931)
..Ectodermal dysplasia adrenal cyst (C538015)
..Ectodermal dysplasia alopecia preaxial polydactyly (C538016)
..Ectodermal Dysplasia and Neurosensory Deafness (C565606)
..Ectodermal dysplasia mental retardation syndactyly (C538018)
..Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet (C565067)
..Ectodermal Dysplasia with Natal Teeth, Turnpenny Type (C563347)
..Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema (C564538)
..Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant (C567411)
..Ectodermal dysplasia, ectrodactyly, and macular dystrophy (C536190)
..Ectodermal Dysplasia, Hidrotic, Autosomal Recessive (C566553)
..Ectodermal dysplasia, hidrotic, Christianson-Fourie type (C536180)
..Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive (D053360)
..Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum (C565605)
..Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia (C565604)
..Ectodermal dysplasia, hypohidrotic, with immune deficiency (C536181)
..Ectodermal Dysplasia, Pure Hair-Nail Type (C566592)
..Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features (C536182)
..Ectodermal Dysplasia, Trichoodontoonychial Type (C565068)
..Ectodermal Dysplasia-Skin Fragility Syndrome (C536183)
..ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 (OMIM:613573)
..ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 2 (OMIM:613576)
..ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME (OMIM:616029)
..Ectrodactyly and Ectodermal Dysplasia without Cleft Lip-Palate (C565065)
..Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome 1 (C565062)
..Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip-Palate Syndrome 3 (C565799)
..Ectrodactyly-cleft lip-palate syndrome (C536189)
..Ellis-Van Creveld Syndrome (D004613) 6
..Epidermolysis bullosa with pyloric atresia (C535377)
..Euhidrotic ectodermal dysplasia (C535763)
..Facial ectodermal dysplasia (C536385)
..Focal Dermal Hypoplasia (D005489) 1
..Focal facial dermal dysplasia (C537068)
..Freire-Maia odontotrichomelic syndrome (C535637)
..Halal Setton Wang syndrome (C535621)
..Hay Wells syndrome recessive type (C535846)
..Hay-Wells syndrome (C535847)
..Hyper-IgM Immunodeficiency, X-Linked, with Ectodermal Dysplasia, Hypohidrotic (C564542)
..Johanson Blizzard syndrome (C535880)
..Jones Hersh Yusk syndrome (C535885)
..Ladda Zonana Ramer syndrome (C538135)
..Lelis Syndrome (C564261)
..LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2 (OMIM:300887)
..Madokoro Ohdo Sonoda syndrome (C537838)
..Naegeli syndrome (C538331)
..NEMO mutation with immunodeficiency (C538399)
..Neurocutaneous Syndromes (D020752) 42 C:1
..Odontomicronychial dysplasia (C537741)
..Odontoonychodermal dysplasia (C537742)
..Odontotrichoungual-Digital-Palmar Syndrome (C566598)
..Orofacial Cleft 7 (C563464)
..Pachyonychia Congenita (D053549) 5
..Pinheiro Freire-Maia Miranda syndrome (C537402)
..Propping Zerres syndrome (C538052)
..Rapp-Hodgkin syndrome (C535289)
..Robinson Miller Bensimon syndrome (C535864)
..Rosselli-Gulienetti Syndrome (C563117)
..Sener syndrome (C537579)
..Seres-Santamaria Arimany Muniz syndrome (C537585)
..Taurodontia absent teeth sparse hair (C536945)
..Tetra amelia with ectodermal dysplasia and lacrimal duct abnormalities (C536496)
..Trichodental syndrome (C536551)
..Trichoodontoonychial Dysplasia (C564760)
..Trichoscyphodysplasia (C536557)
..TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE (OMIM:601675)
..Trueb Burg Bottani syndrome (C536565)
..Yunis Varon syndrome (C536719)
..Zlotogora-Ogur syndrome (C536726)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

4229

Name:

Epidermolysis bullosa with pyloric atresia

Definition:

Alternative IDs:

OMIM:226730

ParentIDs:

MESH:D004476

TreeNumbers:

C16.131.077.350/C535377 |C16.131.831.350/C535377 |C16.320.850.250/C535377 |C17.800.804.350/C535377 |C17.800.827.250/C535377

Synonyms:

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)|Skin disease

Reference:

MedGen: C535377
MeSH: C535377
OMIM: 226730;
MSeqDR :
Genes: ITGA6; ITGB4;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003577	Congenital onset
3	HP:0000119	Abnormality of the genitourinary system
4	HP:0001798	Anonychia
5	HP:0001057	Aplasia cutis congenita
6	HP:0002804	Arthrogryposis multiplex congenita
7	HP:0001075	Atrophic scars
8	HP:0001060	Axillary pterygia
9	HP:0004399	Congenital pyloric atresia
10	HP:0001522	Death in infancy
11	HP:0000656	Ectropion
12	HP:0005984	Elevated maternal serum alpha-fetoprotein
13	HP:0002032	Esophageal atresia
14	HP:0001030	Fragile skin
15	HP:0006297	Hypoplasia of dental enamel
16	HP:0002041	Intractable diarrhea
17	HP:0003341	Junctional split
18	HP:0001056	Milia
19	HP:0002164	Nail dysplasia
20	HP:0008404	Nail dystrophy
21	HP:0001561	Polyhydramnios

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_000213.5(ITGB4):c.4509G>A (p.Ser1503=)	-1	GALK1;ITGB4	Benign/Likely benign	3191773	RCV000377511\|RCV000891227;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	17	73750847	73750847	NC_000017.10:g.73750847G>A	ClinGen:CA8770131	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.4521C>G (p.Pro1507=)	-1	GALK1;ITGB4	Benign	8669	RCV000244157\|RCV000289992\|RCV000375888\|RCV001540267\|RCV001730600\|RCV001730601;	N	MedGen:CN169374\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MONDO:MONDO:0009255,MedGen:C0268155,OMIM:230200, Orphanet:352, Orphanet:79237\|MedGen:C3661900\|MONDO:MONDO:0009180,MedGen:C0268374,OMIM:226650, Orphanet:251393, Orphanet:79402,Orp	17	73750859	73750859	17:g.73750859C>G	ClinGen:CA8770133	C0268155 230200 Deficiency of galactokinase;
NM_000213.5(ITGB4):c.5054-15A>G	-1	GALK1;ITGB4	Benign	8078247	RCV000265090\|RCV000283824\|RCV001711937;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MONDO:MONDO:0009255,MedGen:C0268155,OMIM:230200, Orphanet:352, Orphanet:79237\|MedGen:C3661900	17	73753009	73753009	17:g.73753009A>G	ClinGen:CA8770435	C0268155 230200 Deficiency of galactokinase;
NM_000213.5(ITGB4):c.5218+2T>C	-1	GALK1;ITGB4	Conflicting interpretations of pathogenicity	780675808	RCV000668237\|RCV001536079\|RCV002466260;	N	MONDO:MONDO:0009255,MedGen:C0268155,OMIM:230200, Orphanet:352, Orphanet:79237\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403; MONDO:MONDO:0009180,MedGen:C0268374,OMIM:226650, Orphanet:251393, Orphanet:79402, Orphanet:79405, Orphanet:89840; MONDO	17	73753190	73753190	17:g.73753190T>C	-	C0268155 230200 Deficiency of galactokinase;
NM_000213.5(ITGB4):c.5336T>C (p.Leu1779Pro)	-1	GALK1;ITGB4	Benign	871443	RCV000247515\|RCV000294224\|RCV000322321\|RCV001610568\|RCV001730602\|RCV001730603;	N	MedGen:CN169374\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MONDO:MONDO:0009255,MedGen:C0268155,OMIM:230200, Orphanet:352, Orphanet:79237\|MedGen:C3661900\|MONDO:MONDO:0009180,MedGen:C0268374,OMIM:226650, Orphanet:251393, Orphanet:79402,Orp	17	73753503	73753503	NC_000017.10:g.73753503T>C	ClinGen:CA8770579,UniProtKB:P16144#VAR_027804	C0268155 230200 Deficiency of galactokinase;
NM_000213.5(ITGB4):c.*4C>T	-1	GALK1;ITGB4	Benign/Likely benign	189610725	RCV000371669\|RCV000379238\|RCV001613048;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MONDO:MONDO:0009255,MedGen:C0268155,OMIM:230200, Orphanet:352, Orphanet:79237\|MedGen:C3661900	17	73753640	73753640	NC_000017.10:g.73753640C>T	ClinGen:CA8770619	C0268155 230200 Deficiency of galactokinase;
NM_000213.5(ITGB4):c.*25C>T	-1	GALK1;ITGB4	Benign	9367	RCV000279492\|RCV000287232\|RCV001618569\|RCV001730670\|RCV001730671;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MONDO:MONDO:0009255,MedGen:C0268155,OMIM:230200, Orphanet:352, Orphanet:79237\|MedGen:C3661900\|MONDO:MONDO:0009180,MedGen:C0268374,OMIM:226650, Orphanet:251393, Orphanet:79402, Orphanet:79405,Orph	17	73753661	73753661	NC_000017.10:g.73753661C>T	ClinGen:CA8770630	C0268155 230200 Deficiency of galactokinase;
NM_000154.2(GALK1):c.1119C>T (p.Gly373=)	-1	GALK1;ITGB4	Benign/Likely benign	73997615	RCV000827224\|RCV001083656\|RCV001128522;	N	MedGen:C3661900\|MONDO:MONDO:0009255,MedGen:C0268155,OMIM:230200, Orphanet:352, Orphanet:79237\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73754197	73754197		ClinGen:CA8770701	C0268155 230200 Deficiency of galactokinase;
NM_000210.4(ITGA6):c.-156G>A	3655	ITGA6	Uncertain significance	886055127	RCV000269251;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173292361	173292361	NC_000002.11:g.173292361G>A	ClinGen:CA10612745	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.-138G>A	3655	ITGA6	Benign	144682022	RCV000326633\|RCV001690096;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	2	173292379	173292379	NC_000002.11:g.173292379G>A	ClinGen:CA10613044	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.-122C>T	3655	ITGA6	Uncertain significance	373890886	RCV000378876;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173292395	173292395	NC_000002.11:g.173292395C>T	ClinGen:CA10612765	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.-28C>A	3655	ITGA6	Uncertain significance	1683908595	RCV001135597;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173292489	173292489	2:g.173292489C>A	-
NM_000210.4(ITGA6):c.-14C>G	3655	ITGA6	Benign	144341070	RCV000286710;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173292503	173292503	NC_000002.11:g.173292503C>G	ClinGen:CA1967688	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.10G>A (p.Ala4Thr)	3655	ITGA6	Likely benign	201418157	RCV000320725\|RCV000898687;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	2	173292526	173292526	NC_000002.11:g.173292526G>A	ClinGen:CA1967693	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.148A>G (p.Met50Val)	3655	ITGA6	Likely benign	138572695	RCV000885969\|RCV001135598;	N	MedGen:C3661900\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173292664	173292664	2:g.173292664A>G	-
NM_000210.4(ITGA6):c.182+11A>G	3655	ITGA6	Benign	6744873	RCV000377577\|RCV001712057;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	2	173292709	173292709	NC_000002.11:g.173292709A>G	ClinGen:CA1967729	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.182+15C>T	3655	ITGA6	Benign	6716540	RCV000280701\|RCV001675827;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	2	173292713	173292713	NC_000002.11:g.173292713C>T	ClinGen:CA1967730	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.258C>A (p.Cys86Ter)	3655	ITGA6	Uncertain significance	200919733	RCV000779285;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173330342	173330342	NC_000002.11:g.173330342C>A	-
NM_000210.4(ITGA6):c.388-13C>A	3655	ITGA6	Benign	1574028	RCV000338175\|RCV001675828;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	2	173333840	173333840	NC_000002.11:g.173333840C>A	ClinGen:CA1967830	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.759T>G (p.Pro253=)	3655	ITGA6	Uncertain significance	200561616	RCV001130520;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173335817	173335817	2:g.173335817T>G	-
NM_000210.4(ITGA6):c.835G>C (p.Gly279Arg)	3655	ITGA6	Uncertain significance	1686059928	RCV001329698;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173338842	173338842	173338842	-
NM_000210.4(ITGA6):c.915del (p.His305fs)	3655	ITGA6	Pathogenic	2149047683	RCV001535978;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173338922	173338922	173338921	-
NM_000210.4(ITGA6):c.963G>A (p.Ala321=)	3655	ITGA6	Uncertain significance	745506887	RCV000391020;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173338970	173338970	NC_000002.11:g.173338970G>A	ClinGen:CA1968001	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.985G>A (p.Gly329Arg)	3655	ITGA6	Uncertain significance	920885330	RCV000722974\|RCV001130521\|RCV002485837;	N	MedGen:CN517202\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MONDO:MONDO:0859233,MedGen:C5676957,OMIM:619817	2	173338992	173338992	NC_000002.11:g.173338992G>A	-
NM_000210.4(ITGA6):c.986+14A>C	3655	ITGA6	Benign	138182078	RCV001130522\|RCV002480507\|RCV002556833;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MONDO:MONDO:0859233,MedGen:C5676957,OMIM:619817\|MedGen:C3661900	2	173339007	173339007	2:g.173339007A>C	-
NM_000210.4(ITGA6):c.1138G>A (p.Ala380Thr)	3655	ITGA6	Benign	11895564	RCV000279397\|RCV001594964;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	2	173339808	173339808	NC_000002.11:g.173339808G>A	ClinGen:CA1968043	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.1269+14C>G	3655	ITGA6	Conflicting interpretations of pathogenicity	199737747	RCV001131247\|RCV002070531;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	2	173340427	173340427	2:g.173340427C>G	-
NM_000210.4(ITGA6):c.1318A>G (p.Met440Val)	3655	ITGA6	Uncertain significance	1686178570	RCV001131248;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173341171	173341171	2:g.173341171A>G	-
NM_000210.4(ITGA6):c.1374A>G (p.Ser458=)	3655	ITGA6	Conflicting interpretations of pathogenicity	138908657	RCV000350753\|RCV000942264;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:CN517202	2	173341227	173341227	NC_000002.11:g.173341227A>G	ClinGen:CA1968100	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.1388+5G>C	3655	ITGA6	Uncertain significance	370253342	RCV001131249;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173341246	173341246	2:g.173341246G>C	-
NM_000210.4(ITGA6):c.1388+8A>T	3655	ITGA6	Benign	16860507	RCV000391028\|RCV000955987;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	2	173341249	173341249	NC_000002.11:g.173341249A>T	ClinGen:CA1968105	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.1393C>T (p.Arg465Trp)	3655	ITGA6	Uncertain significance	773159811	RCV000310914;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173344373	173344373	NC_000002.11:g.173344373C>T	ClinGen:CA1968124	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.1427T>G (p.Val476Gly)	3655	ITGA6	Uncertain significance	886055128	RCV000368179;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173344407	173344407	NC_000002.11:g.173344407T>G	ClinGen:CA10613050	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.1487+7A>G	3655	ITGA6	Benign	1920979	RCV000406071\|RCV001539012;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	2	173344474	173344474	NC_000002.11:g.173344474A>G	ClinGen:CA1968140	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.1517C>T (p.Thr506Ile)	3655	ITGA6	Uncertain significance	139324320	RCV001134214\|RCV002480511\|RCV001856721\|RCV002556871;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MONDO:MONDO:0859233,MedGen:C5676957,OMIM:619817\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	2	173344747	173344747	2:g.173344747C>T	-
NM_000210.4(ITGA6):c.1549+6T>C	3655	ITGA6	Uncertain significance	1686365525	RCV001134215;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173344785	173344785	2:g.173344785T>C	-
NM_000210.4(ITGA6):c.1744A>G (p.Ile582Val)	3655	ITGA6	Benign	16860530	RCV000309898\|RCV000968994;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	2	173349882	173349882	NC_000002.11:g.173349882A>G	ClinGen:CA1968212	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.1850T>C (p.Ile617Thr)	3655	ITGA6	Conflicting interpretations of pathogenicity	148815652	RCV001134216\|RCV001354872\|RCV002491402;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:CN517202\|MONDO:MONDO:0859233,MedGen:C5676957,OMIM:619817	2	173349988	173349988	2:g.173349988T>C	-
NM_000210.4(ITGA6):c.1969A>G (p.Ile657Val)	3655	ITGA6	Uncertain significance	368015396	RCV000362303\|RCV002488705\|RCV003343787;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MONDO:MONDO:0859233,MedGen:C5676957,OMIM:619817\|MeSH:D030342,MedGen:C0950123	2	173351865	173351865	NC_000002.11:g.173351865A>G	ClinGen:CA1968264	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.1970+12_1970+14del	3655	ITGA6	Conflicting interpretations of pathogenicity	532175144	RCV000267224\|RCV000907269;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:CN517202	2	173351876	173351878	NC_000002.11:g.173351878_173351880del	ClinGen:CA1968265
NM_000210.4(ITGA6):c.2082C>T (p.Asp694=)	3655	ITGA6	Benign	2293649	RCV000324684\|RCV001613080;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	2	173352103	173352103	NC_000002.11:g.173352103C>T	ClinGen:CA1968290	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.2109G>A (p.Thr703=)	3655	ITGA6	Conflicting interpretations of pathogenicity	141344340	RCV000358517\|RCV000917107;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:CN517202	2	173352130	173352130	NC_000002.11:g.173352130G>A	ClinGen:CA1968295	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.2136A>T (p.Ala712=)	3655	ITGA6	Benign	2293648	RCV000266147\|RCV001707658;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	2	173352157	173352157	NC_000002.11:g.173352157A>T	ClinGen:CA1968300	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.2169G>A (p.Gln723=)	3655	ITGA6	Conflicting interpretations of pathogenicity	149917878	RCV000944033\|RCV001135712;	N	MedGen:C3661900\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173352283	173352283	2:g.173352283G>A	-
NM_000210.4(ITGA6):c.2245-3del	3655	ITGA6	Benign/Likely benign	746830225	RCV000318976\|RCV002057607\|RCV002504119;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:CN517202\|MONDO:MONDO:0859233,MedGen:C5676957,OMIM:619817	2	173352447	173352447	NC_000002.11:g.173352453del	ClinGen:CA1968347
NM_000210.4(ITGA6):c.2247C>G (p.Val749=)	3655	ITGA6	Benign/Likely benign	61748247	RCV000375934\|RCV000881983;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	2	173352458	173352458	NC_000002.11:g.173352458C>G	ClinGen:CA1968349	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.2296G>T (p.Asp766Tyr)	3655	ITGA6	Benign	2737085	RCV000278674\|RCV000956002;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	2	173352507	173352507	NC_000002.11:g.173352507G>T	ClinGen:CA1968350	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.2324+9T>G	3655	ITGA6	Uncertain significance	1686756320	RCV001135713;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173352544	173352544	2:g.173352544T>G	-
NM_000210.4(ITGA6):c.2393C>T (p.Ser798Leu)	3655	ITGA6	Uncertain significance	201430068	RCV000317348;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173352757	173352757	NC_000002.11:g.173352757C>T	ClinGen:CA1968371	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.2505+9G>C	3655	ITGA6	Benign/Likely benign	144420350	RCV000903657\|RCV001135714;	N	MedGen:C3661900\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173352965	173352965	2:g.173352965G>C	-
NM_000210.4(ITGA6):c.2538C>T (p.Leu846=)	3655	ITGA6	Benign/Likely benign	181814375	RCV000895935\|RCV001135715\|RCV002479023;	N	MedGen:C3661900\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MONDO:MONDO:0859233,MedGen:C5676957,OMIM:619817	2	173354245	173354245	2:g.173354245C>T	-
NM_000210.4(ITGA6):c.2543C>T (p.Thr848Ile)	3655	ITGA6	Uncertain significance	779823355	RCV001135716;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173354250	173354250	2:g.173354250C>T	-
NM_000210.4(ITGA6):c.2651A>G (p.Gln884Arg)	3655	ITGA6	Conflicting interpretations of pathogenicity	61757096	RCV000388751\|RCV002521333;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	2	173354358	173354358	NC_000002.11:g.173354358A>G	ClinGen:CA1968442	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.2679+13A>C	3655	ITGA6	Uncertain significance	377248189	RCV001128720;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173354399	173354399	2:g.173354399A>C	-
NM_000210.4(ITGA6):c.2680-14A>G	3655	ITGA6	Uncertain significance	202105422	RCV001128721;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173355738	173355738	2:g.173355738A>G	-
NM_000210.4(ITGA6):c.2704C>T (p.Arg902Trp)	3655	ITGA6	Benign/Likely benign	199587983	RCV000296803\|RCV002502286;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MONDO:MONDO:0859233,MedGen:C5676957,OMIM:619817	2	173355776	173355776	NC_000002.11:g.173355776C>T	ClinGen:CA1968471	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.2728G>A (p.Asp910Asn)	3655	ITGA6	Benign/Likely benign	61737182	RCV000349267\|RCV000889747;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	2	173355800	173355800	NC_000002.11:g.173355800G>A	ClinGen:CA1968473	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.2777T>C (p.Leu926Pro)	3655	ITGA6	Uncertain significance	775389058	RCV001128722;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173355849	173355849	2:g.173355849T>C	-
NM_000210.4(ITGA6):c.2788G>A (p.Val930Met)	3655	ITGA6	Benign	10209072	RCV000387501\|RCV001690097;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	2	173355958	173355958	NC_000002.11:g.173355958G>A	ClinGen:CA1968496	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.2792A>G (p.Asn931Ser)	3655	ITGA6	Uncertain significance	778456920	RCV000290729\|RCV002504120\|RCV002521334;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MONDO:MONDO:0859233,MedGen:C5676957,OMIM:619817\|MedGen:CN517202	2	173355962	173355962	NC_000002.11:g.173355962A>G	ClinGen:CA1968498	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.2819C>T (p.Pro940Leu)	3655	ITGA6	Conflicting interpretations of pathogenicity	138874769	RCV000347958\|RCV002057608;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	2	173355989	173355989	NC_000002.11:g.173355989C>T	ClinGen:CA1968502	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.2820G>A (p.Pro940=)	3655	ITGA6	Benign/Likely benign	34599583	RCV000392772\|RCV000968995\|RCV002487466;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900\|MONDO:MONDO:0859233,MedGen:C5676957,OMIM:619817	2	173355990	173355990	NC_000002.11:g.173355990G>A	ClinGen:CA1968503	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.2858G>A (p.Arg953His)	3655	ITGA6	Likely benign	150695902	RCV000308413\|RCV000900532;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	2	173356028	173356028	NC_000002.11:g.173356028G>A	ClinGen:CA1968517	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.2861C>T (p.Ser954Leu)	3655	ITGA6	Uncertain significance	565088728	RCV000341392\|RCV002488706;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MONDO:MONDO:0859233,MedGen:C5676957,OMIM:619817	2	173356031	173356031	NC_000002.11:g.173356031C>T	ClinGen:CA1968518	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.2862G>C (p.Ser954=)	3655	ITGA6	Benign	61757097	RCV000404314\|RCV000967971;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	2	173356032	173356032	NC_000002.11:g.173356032G>C	ClinGen:CA1968519	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.2900A>C (p.Lys967Thr)	3655	ITGA6	Uncertain significance	868362021	RCV001131344\|RCV001856699;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:CN517202	2	173356163	173356163	2:g.173356163A>C	-
NM_000210.4(ITGA6):c.2926C>T (p.Arg976Ter)	3655	ITGA6	Uncertain significance	769808745	RCV000779286;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173356189	173356189	NC_000002.11:g.173356189C>T	-
NM_000210.4(ITGA6):c.2938_2939insT (p.Asp980fs)	3655	ITGA6	Likely pathogenic	1686926761	RCV001329697;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173356201	173356202	173356201	-
NM_000210.4(ITGA6):c.2989-6C>T	3655	ITGA6	Benign/Likely benign	147900066	RCV000301585\|RCV000883619\|RCV002488707;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900\|MONDO:MONDO:0859233,MedGen:C5676957,OMIM:619817	2	173362697	173362697	2:g.173362697C>T	ClinGen:CA1968567	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.3000T>C (p.Thr1000=)	3655	ITGA6	Conflicting interpretations of pathogenicity	751960466	RCV000921775\|RCV001131345;	N	MedGen:CN517202\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173362714	173362714	2:g.173362714T>C	-
NM_000210.4(ITGA6):c.3006T>C (p.Phe1002=)	3655	ITGA6	Conflicting interpretations of pathogenicity	139596061	RCV000358668\|RCV000963267;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	2	173362720	173362720	2:g.173362720T>C	ClinGen:CA1968574	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.3069C>T (p.Leu1023=)	3655	ITGA6	Uncertain significance	748279299	RCV001134345;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173362783	173362783	2:g.173362783C>T	-
NM_000210.4(ITGA6):c.3075G>A (p.Gly1025=)	3655	ITGA6	Conflicting interpretations of pathogenicity	368851699	RCV000261791\|RCV002523095;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:CN517202	2	173362789	173362789	2:g.173362789G>A	ClinGen:CA1968586	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.3132A>G (p.Arg1044=)	3655	ITGA6	Uncertain significance	143159110	RCV000300621;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173366517	173366517	2:g.173366517A>G	ClinGen:CA1968613	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.3167del (p.Lys1056fs)	3655	ITGA6	Pathogenic	1559159868	RCV000761293;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173366551	173366551	NC_000002.11:g.173366552del	-
NM_000210.4(ITGA6):c.3222G>A (p.Ter1074=)	3655	ITGA6	Benign/Likely benign	16860616	RCV000353064\|RCV000968996\|RCV002487467;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900\|MONDO:MONDO:0859233,MedGen:C5676957,OMIM:619817	2	173366607	173366607	2:g.173366607G>A	ClinGen:CA1968622	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.*50G>A	3655	ITGA6	Uncertain significance	886055130	RCV000260596;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173368846	173368846	2:g.173368846G>A	ClinGen:CA10612798	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.*58T>C	3655	ITGA6	Benign	150113724	RCV001134346\|RCV002497544;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MONDO:MONDO:0859233,MedGen:C5676957,OMIM:619817	2	173368854	173368854	2:g.173368854T>C	-
NM_000210.4(ITGA6):c.*65C>G	3655	ITGA6	Uncertain significance	773696478	RCV001134347;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173368861	173368861	2:g.173368861C>G	-
NM_000210.4(ITGA6):c.*97G>A	3655	ITGA6	Uncertain significance	200991464	RCV001134348;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173368893	173368893	2:g.173368893G>A	-
NM_000210.4(ITGA6):c.*101G>C	3655	ITGA6	Uncertain significance	55707934	RCV001135814;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173368897	173368897	2:g.173368897G>C	-
NM_000210.4(ITGA6):c.*142dup	3655	ITGA6	Uncertain significance	201055917	RCV000490534\|RCV002500684;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MONDO:MONDO:0859233,MedGen:C5676957,OMIM:619817	2	173368930	173368931	2:g.173368930_173368931insA	ClinGen:CA1968662	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.204_205insT	3655	ITGA6	Benign/Likely benign	61499296	RCV000332266\|RCV001613081;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	2	173369000	173369001	2:g.173369000_173369001insT	ClinGen:CA1968678	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.*308C>T	3655	ITGA6	Uncertain significance	555954477	RCV000389121;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173369104	173369104	2:g.173369104C>T	ClinGen:CA10611887	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.*408C>T	3655	ITGA6	Likely benign	114499545	RCV001135815;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173369204	173369204	2:g.173369204C>T	-
NM_000210.4(ITGA6):c.434_435insG	3655	ITGA6	Uncertain significance	886055131	RCV000273723;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173369230	173369231	2:g.173369230_173369231insG	ClinGen:CA10611891	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.*435A>G	3655	ITGA6	Benign	17664	RCV000331172\|RCV001672565;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	2	173369231	173369231	NC_000002.11:g.173369231A>G	ClinGen:CA10611398	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.*435A>T	3655	ITGA6	Uncertain significance	17664	RCV001135816;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173369231	173369231	2:g.173369231A>T	-
NM_000210.4(ITGA6):c.*574C>G	3655	ITGA6	Uncertain significance	777604325	RCV000383444;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173369370	173369370	NC_000002.11:g.173369370C>G	ClinGen:CA10613052	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.*595C>T	3655	ITGA6	Benign	114005087	RCV000291652;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173369391	173369391	NC_000002.11:g.173369391C>T	ClinGen:CA10611892	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.*648G>A	3655	ITGA6	Uncertain significance	368132853	RCV001128830;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173369444	173369444	2:g.173369444G>A	-
NM_000210.4(ITGA6):c.*678T>C	3655	ITGA6	Uncertain significance	886055132	RCV000344217;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173369474	173369474	NC_000002.11:g.173369474T>C	ClinGen:CA10611400	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.*702C>T	3655	ITGA6	Likely benign	138288164	RCV001128831;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173369498	173369498	2:g.173369498C>T	-
NM_000210.4(ITGA6):c.*703G>A	3655	ITGA6	Uncertain significance	886055133	RCV000382439;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173369499	173369499	NC_000002.11:g.173369499G>A	ClinGen:CA10611893	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.*719T>C	3655	ITGA6	Uncertain significance	143976962	RCV000286791;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173369515	173369515	NC_000002.11:g.173369515T>C	ClinGen:CA10612800	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.*747A>G	3655	ITGA6	Likely benign	564832593	RCV001128832;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173369543	173369543	2:g.173369543A>G	-
NM_000210.4(ITGA6):c.*751A>G	3655	ITGA6	Likely benign	2178473	RCV000339493;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173369547	173369547	NC_000002.11:g.173369547A>G	ClinGen:CA10613053	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.*776T>G	3655	ITGA6	Uncertain significance	767612998	RCV000407650;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173369572	173369572	NC_000002.11:g.173369572T>G	ClinGen:CA10613054	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.*782A>C	3655	ITGA6	Uncertain significance	886055134	RCV000299717;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173369578	173369578	NC_000002.11:g.173369578A>C	ClinGen:CA10611894	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.*867T>C	3655	ITGA6	Uncertain significance	577105842	RCV000338100;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173369663	173369663	NC_000002.11:g.173369663T>C	ClinGen:CA10611403	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.*873A>G	3655	ITGA6	Uncertain significance	1336848111	RCV001131486;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173369669	173369669	2:g.173369669A>G	-
NM_000210.4(ITGA6):c.*882A>C	3655	ITGA6	Likely benign	147290718	RCV000407663;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173369678	173369678	NC_000002.11:g.173369678A>C	ClinGen:CA10611895	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.*919A>G	3655	ITGA6	Likely benign	139374896	RCV000298369;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173369715	173369715	NC_000002.11:g.173369715A>G	ClinGen:CA10612801	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.1021_1024dup	3655	ITGA6	Uncertain significance	886055135	RCV000369505;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173369813	173369814	NC_000002.11:g.173369817_173369820dupCTAT	ClinGen:CA10612807	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.*1108A>G	3655	ITGA6	Uncertain significance	886055136	RCV000276974;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173369904	173369904	NC_000002.11:g.173369904A>G	ClinGen:CA10613056	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.*1135T>C	3655	ITGA6	Likely benign	144685011	RCV001131487;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173369931	173369931	2:g.173369931T>C	-
NM_000210.4(ITGA6):c.*1194A>G	3655	ITGA6	Benign	16860635	RCV000310985;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173369990	173369990	NC_000002.11:g.173369990A>G	ClinGen:CA10611896	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.*1221C>T	3655	ITGA6	Uncertain significance	193228906	RCV000367961;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173370017	173370017	NC_000002.11:g.173370017C>T	ClinGen:CA10612810	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.*1339T>A	3655	ITGA6	Likely benign	565937964	RCV001134471;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173370135	173370135	2:g.173370135T>A	-
NM_000210.4(ITGA6):c.*1348C>T	3655	ITGA6	Uncertain significance	759118407	RCV001134472;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173370144	173370144	2:g.173370144C>T	-
NM_000210.4(ITGA6):c.*1383C>G	3655	ITGA6	Uncertain significance	886055137	RCV000271041;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173370179	173370179	NC_000002.11:g.173370179C>G	ClinGen:CA10611897	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.*1413T>C	3655	ITGA6	Uncertain significance	914745099	RCV001134473;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173370209	173370209	2:g.173370209T>C	-
NM_000210.4(ITGA6):c.*1442T>C	3655	ITGA6	Uncertain significance	775057266	RCV001134474;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173370238	173370238	2:g.173370238T>C	-
NM_000210.4(ITGA6):c.*1459G>T	3655	ITGA6	Benign	142884581	RCV000328635;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173370255	173370255	NC_000002.11:g.173370255G>T	ClinGen:CA10612811	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.*1520T>G	3655	ITGA6	Uncertain significance	189127895	RCV001134475;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173370316	173370316	2:g.173370316T>G	-
NM_000210.4(ITGA6):c.*1660dup	3655	ITGA6	Uncertain significance	532829832	RCV000380967;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173370449	173370450	NC_000002.11:g.173370456dupG	ClinGen:CA10612813	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.*1655G>T	3655	ITGA6	Benign	117775734	RCV000270112;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173370451	173370451	NC_000002.11:g.173370451G>T	ClinGen:CA10611903	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.*1656G>T	3655	ITGA6	Uncertain significance	886055139	RCV000322810;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173370452	173370452	NC_000002.11:g.173370452G>T	ClinGen:CA10613058	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.*1795C>G	3655	ITGA6	Uncertain significance	150636343	RCV000380423;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173370591	173370591	NC_000002.11:g.173370591C>G	ClinGen:CA10611907	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.*1809T>C	3655	ITGA6	Benign	6759915	RCV000283646;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173370605	173370605	NC_000002.11:g.173370605T>C	ClinGen:CA10613061	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.*1883C>A	3655	ITGA6	Uncertain significance	561905909	RCV001135935;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173370679	173370679	2:g.173370679C>A	-
NM_000210.4(ITGA6):c.*1901dup	3655	ITGA6	Likely benign	139972066	RCV000322325;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173370689	173370690	NC_000002.11:g.173370697dupA	ClinGen:CA10611408	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.*1935G>A	3655	ITGA6	Uncertain significance	886055141	RCV000374704;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173370731	173370731	NC_000002.11:g.173370731G>A	ClinGen:CA10612822	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.*1940dup	3655	ITGA6	Likely benign	150850702	RCV000282295;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173370734	173370735	NC_000002.11:g.173370736dupA	ClinGen:CA10613065	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.*2069del	3655	ITGA6	Uncertain significance	886055143	RCV000334949;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173370864	173370864	NC_000002.11:g.173370865del	ClinGen:CA10611909
NM_000210.4(ITGA6):c.*2081G>A	3655	ITGA6	Uncertain significance	1011003645	RCV001135936;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173370877	173370877	2:g.173370877G>A	-
NM_000210.4(ITGA6):c.*2088T>G	3655	ITGA6	Benign	114786166	RCV000391216;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173370884	173370884	NC_000002.11:g.173370884T>G	ClinGen:CA10613066	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.*2124T>A	3655	ITGA6	Uncertain significance	529538465	RCV001128940;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173370920	173370920	2:g.173370920T>A	-
NM_000210.4(ITGA6):c.*2285G>T	3655	ITGA6	Uncertain significance	892050167	RCV001128941;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173371081	173371081	2:g.173371081G>T	-
NM_000210.4(ITGA6):c.*2291G>A	3655	ITGA6	Uncertain significance	146711542	RCV001128942;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173371087	173371087	2:g.173371087G>A	-
NM_000210.4(ITGA6):c.*2309C>T	3655	ITGA6	Benign	140413358	RCV001128943;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173371105	173371105	2:g.173371105C>T	-
NM_000210.4(ITGA6):c.*2315A>G	3655	ITGA6	Uncertain significance	886055144	RCV000295095;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173371111	173371111	NC_000002.11:g.173371111A>G	ClinGen:CA10611910	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.*2349T>C	3655	ITGA6	Benign	16860641	RCV000352805;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173371145	173371145	NC_000002.11:g.173371145T>C	ClinGen:CA10611412	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.2362_2364dup	3655	ITGA6	Uncertain significance	886055145	RCV000391207;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173371155	173371156	NC_000002.11:g.173371158_173371160dupGAA	ClinGen:CA10611912	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000210.4(ITGA6):c.*2374T>C	3655	ITGA6	Benign	16860642	RCV000313218;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	2	173371170	173371170	NC_000002.11:g.173371170T>C	ClinGen:CA10611414	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.-159A>C	3691	ITGB4	Uncertain significance	1473747702	RCV001122206;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73717544	73717544	17:g.73717544A>C	-
NM_000213.5(ITGB4):c.-125G>C	3691	ITGB4	Conflicting interpretations of pathogenicity	552008042	RCV000291660\|RCV003221918;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	17	73717578	73717578	NC_000017.10:g.73717578G>C	ClinGen:CA10640511	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.-68C>T	3691	ITGB4	Uncertain significance	571564589	RCV000346679;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73717635	73717635	NC_000017.10:g.73717635C>T	ClinGen:CA10640527	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.-23T>C	3691	ITGB4	Uncertain significance	886053407	RCV000397195;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73717680	73717680	NC_000017.10:g.73717680T>C	ClinGen:CA10640531	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.93G>C (p.Lys31Asn)	3691	ITGB4	Uncertain significance	2060737043	RCV001122207;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73723288	73723288	17:g.73723288G>C	-
NM_000213.5(ITGB4):c.112T>C (p.Cys38Arg)	3691	ITGB4	Pathogenic	121912465	RCV000015859;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73723307	73723307	17:g.73723307T>C	ClinGen:CA257307,UniProtKB:P16144#VAR_010652,OMIM:147557.0009	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.162+9C>T	3691	ITGB4	Conflicting interpretations of pathogenicity	200853535	RCV001122208\|RCV002556631;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	17	73723366	73723366	17:g.73723366C>T	-
NM_000213.5(ITGB4):c.179G>A (p.Arg60His)	3691	ITGB4	Uncertain significance	-1	RCV003333356\|RCV003333355;	N	MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73723501	73723501		-
NM_000213.5(ITGB4):c.182G>A (p.Cys61Tyr)	3691	ITGB4	Pathogenic/Likely pathogenic	80338755	RCV000015855\|RCV000413122\|RCV002504794\|RCV003156061;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900\|MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816; MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|	17	73723504	73723504	NC_000017.10:g.73723504G>A	ClinGen:CA341333,UniProtKB:P16144#VAR_004006,OMIM:147557.0005
NM_000213.5(ITGB4):c.210G>A (p.Ala70=)	3691	ITGB4	Conflicting interpretations of pathogenicity	200500313	RCV000307065\|RCV000896858;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	17	73723532	73723532	NC_000017.10:g.73723532G>A	ClinGen:CA8768601	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.282C>T (p.Thr94=)	3691	ITGB4	Benign/Likely benign	146609350	RCV000371079\|RCV000921798;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	17	73723749	73723749	NC_000017.10:g.73723749C>T	ClinGen:CA8768624	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.299A>G (p.Gln100Arg)	3691	ITGB4	Uncertain significance	750443550	RCV001122209\|RCV002556632;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MeSH:D030342,MedGen:C0950123	17	73723766	73723766	17:g.73723766A>G	-
NM_000213.5(ITGB4):c.309C>A (p.Pro103=)	3691	ITGB4	Likely benign	763268075	RCV000909638\|RCV002502725;	N	MedGen:C3661900\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403; MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816	17	73723776	73723776	17:g.73723776C>A	-
NM_000213.5(ITGB4):c.312A>G (p.Gln104=)	3691	ITGB4	Conflicting interpretations of pathogenicity	568835164	RCV000887509\|RCV001124982;	N	MedGen:CN517202\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73723779	73723779	17:g.73723779A>G	-
NM_000213.5(ITGB4):c.346C>T (p.Arg116Trp)	3691	ITGB4	Uncertain significance	146269824	RCV001124983\|RCV002480501\|RCV001772331;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403; MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816\|MedGen:CN517202	17	73723813	73723813	17:g.73723813C>T	-
NM_000213.5(ITGB4):c.387C>T (p.Pro129=)	3691	ITGB4	Likely benign	140040189	RCV000887510\|RCV002495369;	N	MedGen:C3661900\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403; MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816	17	73723854	73723854	17:g.73723854C>T	-
NM_000213.5(ITGB4):c.467T>C (p.Leu156Pro)	3691	ITGB4	Pathogenic	121912461	RCV000015853;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73723934	73723934	17:g.73723934T>C	ClinGen:CA257298,UniProtKB:P16144#VAR_004007,OMIM:147557.0003	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.469+5G>A	3691	ITGB4	Uncertain significance	141369871	RCV001355619\|RCV002486478;	N	MedGen:C3661900\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403; MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816	17	73723941	73723941	73723941	-
NM_000213.5(ITGB4):c.472_566+184del	3691	ITGB4	Pathogenic	2060771091	RCV001352840;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73724458	73724736	73724457	-
NM_000213.5(ITGB4):c.495C>T (p.Ser165=)	3691	ITGB4	Benign/Likely benign	75092172	RCV001124984\|RCV002479040\|RCV000903911;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403; MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816\|MedGen:C3661900	17	73724483	73724483	17:g.73724483C>T	-
NM_000213.5(ITGB4):c.502A>G (p.Thr168Ala)	3691	ITGB4	Conflicting interpretations of pathogenicity	139287033	RCV002034330\|RCV002486772;	N	MedGen:C3661900\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403; MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816	17	73724490	73724490	73724490	-
NM_000213.5(ITGB4):c.513T>C (p.Phe171=)	3691	ITGB4	Benign/Likely benign	148048907	RCV000401864\|RCV001576464\|RCV002487431;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403; MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816	17	73724501	73724501	NC_000017.10:g.73724501T>C	ClinGen:CA8768693	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.595C>A (p.Pro199Thr)	3691	ITGB4	Uncertain significance	780182739	RCV001124985;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73725374	73725374	17:g.73725374C>A	-
NM_000213.5(ITGB4):c.690T>A (p.Asp230Glu)	3691	ITGB4	Uncertain significance	2060802259	RCV001124986\|RCV002491389;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403; MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816	17	73725469	73725469	17:g.73725469T>A	-
NM_000213.5(ITGB4):c.701G>T (p.Gly234Val)	3691	ITGB4	Pathogenic	1038415538	RCV001352841;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73725480	73725480	73725480	-
NM_000213.5(ITGB4):c.702C>T (p.Gly234=)	3691	ITGB4	Benign	61751843	RCV000311120\|RCV001534059;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	17	73725481	73725481	NC_000017.10:g.73725481C>T	ClinGen:CA8768746	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.708C>T (p.Phe236=)	3691	ITGB4	Conflicting interpretations of pathogenicity	146923910	RCV000356549\|RCV000942505;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	17	73725487	73725487	NC_000017.10:g.73725487C>T	ClinGen:CA8768748	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.738+3G>A	3691	ITGB4	Uncertain significance	374647847	RCV000261751\|RCV002480158\|RCV002523014;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403; MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816\|MedGen:C3661900	17	73725520	73725520	NC_000017.10:g.73725520G>A	ClinGen:CA8768754	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.754C>A (p.Arg252Ser)	3691	ITGB4	Uncertain significance	201494421	RCV001125950;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73726337	73726337	17:g.73726337C>A	-
NM_000213.5(ITGB4):c.759G>A (p.Pro253=)	3691	ITGB4	Conflicting interpretations of pathogenicity	776214034	RCV001125951\|RCV002070058;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:CN517202	17	73726342	73726342	17:g.73726342G>A	-
NM_000213.5(ITGB4):c.794dup (p.Ala266fs)	3691	ITGB4	Pathogenic	757050033	RCV001716990\|RCV001780431;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	17	73726376	73726377	73726376	-
NM_000213.5(ITGB4):c.847C>T (p.Arg283Cys)	3691	ITGB4	Pathogenic	1422797135	RCV001352874;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73726430	73726430	73726430	-
NM_000213.5(ITGB4):c.852C>T (p.Asn284=)	3691	ITGB4	Uncertain significance	529755730	RCV001125952;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73726435	73726435	17:g.73726435C>T	-
NM_000213.5(ITGB4):c.859C>T (p.Arg287Trp)	3691	ITGB4	Uncertain significance	140750952	RCV001125953;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73726442	73726442	17:g.73726442C>T	-
NM_000213.5(ITGB4):c.867C>T (p.His289=)	3691	ITGB4	Benign	150113215	RCV000970326\|RCV001125954;	N	MedGen:C3661900\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73726450	73726450	17:g.73726450C>T	-
NM_000213.5(ITGB4):c.953A>T (p.Asn318Ile)	3691	ITGB4	Uncertain significance	1454995069	RCV001250538;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73726536	73726536	17:g.73726536A>T	-
NM_000213.5(ITGB4):c.997T>G (p.Tyr333Asp)	3691	ITGB4	Pathogenic	761952496	RCV001352875;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73726580	73726580	73726580	-
NM_000213.5(ITGB4):c.1002+12A>G	3691	ITGB4	Conflicting interpretations of pathogenicity	374003966	RCV000316849\|RCV002521122;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	17	73726597	73726597	NC_000017.10:g.73726597A>G	ClinGen:CA8768831	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.1032A>G (p.Ser344=)	3691	ITGB4	Conflicting interpretations of pathogenicity	145591069	RCV000353021\|RCV000942506;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	17	73726985	73726985	NC_000017.10:g.73726985A>G	ClinGen:CA8768853	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.1056G>A (p.Ser352=)	3691	ITGB4	Benign/Likely benign	187527294	RCV000267606\|RCV000970492;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	17	73727009	73727009	NC_000017.10:g.73727009G>A	ClinGen:CA8768859	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.1093C>T (p.Arg365Trp)	3691	ITGB4	Uncertain significance	886053408	RCV000322660;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73727327	73727327	NC_000017.10:g.73727327C>T	ClinGen:CA10650944	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.1095G>A (p.Arg365=)	3691	ITGB4	Conflicting interpretations of pathogenicity	141970956	RCV000377681\|RCV000942507;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	17	73727329	73727329	NC_000017.10:g.73727329G>A	ClinGen:CA8768879	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.1113C>T (p.Asp371=)	3691	ITGB4	Uncertain significance	772224695	RCV001128065;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73727347	73727347	17:g.73727347C>T	-
NM_000213.5(ITGB4):c.1136G>A (p.Arg379Gln)	3691	ITGB4	Uncertain significance	367872059	RCV000283197;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73727370	73727370	NC_000017.10:g.73727370G>A	ClinGen:CA8768887	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.1179G>A (p.Thr393=)	3691	ITGB4	Conflicting interpretations of pathogenicity	772335175	RCV000328912\|RCV002056624;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:CN517202	17	73727413	73727413	NC_000017.10:g.73727413G>A	ClinGen:CA8768897	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.1181G>A (p.Arg394Lys)	3691	ITGB4	Conflicting interpretations of pathogenicity	144655991	RCV000383527\|RCV002523015;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	17	73727415	73727415	NC_000017.10:g.73727415G>A	ClinGen:CA8768899	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.1201C>T (p.Arg401Trp)	3691	ITGB4	Uncertain significance	200122430	RCV000289158\|RCV002259336\|RCV003343780\|RCV002487432;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403; MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816	17	73727435	73727435	NC_000017.10:g.73727435C>T	ClinGen:CA8768901	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.1210G>A (p.Glu404Lys)	3691	ITGB4	Uncertain significance	886053409	RCV000344119;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73727444	73727444	NC_000017.10:g.73727444G>A	ClinGen:CA10646747	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.1215+19A>G	3691	ITGB4	Benign/Likely benign	201686414	RCV002124615\|RCV002494284;	N	MedGen:C3661900\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403; MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816	17	73727468	73727468	73727468	-
NM_000213.5(ITGB4):c.1262C>T (p.Thr421Met)	3691	ITGB4	Conflicting interpretations of pathogenicity	148535298	RCV000389270\|RCV002524439;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:CN517202	17	73727939	73727939	NC_000017.10:g.73727939C>T	ClinGen:CA8768950	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.1281G>A (p.Pro427=)	3691	ITGB4	Likely benign	150638695	RCV000911699\|RCV002505340;	N	MedGen:CN517202\|MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816; MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73727958	73727958	17:g.73727958G>A	-
NM_000213.5(ITGB4):c.1343C>T (p.Ala448Val)	3691	ITGB4	Conflicting interpretations of pathogenicity	144804175	RCV002046517\|RCV002507829\|RCV002551199;	N	MedGen:C3661900\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403; MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816\|MeSH:D030342,MedGen:C0950123	17	73728020	73728020	73728020	-
NM_000213.5(ITGB4):c.1345G>A (p.Gly449Ser)	3691	ITGB4	Conflicting interpretations of pathogenicity	147963396	RCV001122300\|RCV001355124\|RCV002491379;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:CN517202\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403; MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816	17	73728022	73728022	17:g.73728022G>A	-
NM_000213.5(ITGB4):c.1370G>A (p.Cys457Tyr)	3691	ITGB4	Pathogenic	2060870463	RCV001352876;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73728047	73728047	73728047	-
NM_000213.5(ITGB4):c.1377+7C>T	3691	ITGB4	Conflicting interpretations of pathogenicity	200004156	RCV000294990\|RCV002056625;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:CN517202	17	73728061	73728061	NC_000017.10:g.73728061C>T	ClinGen:CA8768982	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.1377+15C>T	3691	ITGB4	Benign	78048168	RCV000350085\|RCV002056626;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	17	73728069	73728069	NC_000017.10:g.73728069C>T	ClinGen:CA8768983	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.1413C>T (p.Asn471=)	3691	ITGB4	Uncertain significance	375790655	RCV000396459;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73728279	73728279	NC_000017.10:g.73728279C>T	ClinGen:CA8769013	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.1428C>T (p.Cys476=)	3691	ITGB4	Conflicting interpretations of pathogenicity	149030156	RCV001122301\|RCV002069991;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	17	73728294	73728294	17:g.73728294C>T	-
NM_000213.5(ITGB4):c.1434G>T (p.Gln478His)	3691	ITGB4	Benign/Likely benign	8079267	RCV000301083\|RCV000971815;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	17	73728300	73728300	NC_000017.10:g.73728300G>T	ClinGen:CA8769020,UniProtKB:P16144#VAR_027803	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.1461C>T (p.Gly487=)	3691	ITGB4	Uncertain significance	2060908227	RCV001122302;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73729577	73729577	17:g.73729577C>T	-
NM_000213.5(ITGB4):c.1533G>A (p.Pro511=)	3691	ITGB4	Benign/Likely benign	148312483	RCV000337278\|RCV000921799;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	17	73729649	73729649	NC_000017.10:g.73729649G>A	ClinGen:CA8769050	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.1539C>T (p.Ser513=)	3691	ITGB4	Uncertain significance	886053410	RCV000400149;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73729655	73729655	NC_000017.10:g.73729655C>T	ClinGen:CA10650948	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.1544G>A (p.Arg515His)	3691	ITGB4	Benign	61735297	RCV001125091\|RCV001615121;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	17	73729660	73729660	17:g.73729660G>A	-
NM_000213.5(ITGB4):c.1560C>T (p.Cys520=)	3691	ITGB4	Uncertain significance	538635871	RCV000297609;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73729676	73729676	NC_000017.10:g.73729676C>T	ClinGen:CA8769058	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.1581C>T (p.Gly527=)	3691	ITGB4	Uncertain significance	374868983	RCV000361719;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73729697	73729697	NC_000017.10:g.73729697C>T	ClinGen:CA8769062	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.1593C>T (p.Tyr531=)	3691	ITGB4	Uncertain significance	778102219	RCV000267769;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73729709	73729709	NC_000017.10:g.73729709C>T	ClinGen:CA8769065	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.1660C>T (p.Arg554Ter)	3691	ITGB4	Pathogenic	121912462	RCV000015854;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73732134	73732134	17:g.73732134C>T	ClinGen:CA257299,OMIM:147557.0004	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.1666C>T (p.Arg556Cys)	3691	ITGB4	Conflicting interpretations of pathogenicity	150166497	RCV000301781\|RCV001764294;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	17	73732140	73732140	NC_000017.10:g.73732140C>T	ClinGen:CA8769097	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.1667G>A (p.Arg556His)	3691	ITGB4	Benign	142562582	RCV000358893\|RCV000890632;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	17	73732141	73732141	NC_000017.10:g.73732141G>A	ClinGen:CA8769098	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.1684T>C (p.Cys562Arg)	3691	ITGB4	Pathogenic	121912463	RCV000015856;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73732158	73732158	17:g.73732158T>C	ClinGen:CA257301,UniProtKB:P16144#VAR_004010,OMIM:147557.0006	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.1749C>T (p.Ile583=)	3691	ITGB4	Conflicting interpretations of pathogenicity	144302042	RCV000271155\|RCV001729536;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:CN517202	17	73732223	73732223	NC_000017.10:g.73732223C>T	ClinGen:CA8769111	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.1805A>T (p.His602Leu)	3691	ITGB4	Likely benign	201103623	RCV000328586\|RCV000906186;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	17	73732412	73732412	NC_000017.10:g.73732412A>T	ClinGen:CA8769135	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.1821G>A (p.Ser607=)	3691	ITGB4	Benign	2290460	RCV000380758\|RCV001690078;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	17	73732428	73732428	NC_000017.10:g.73732428G>A	ClinGen:CA8769142	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.1860+10A>C	3691	ITGB4	Uncertain significance	8065184	RCV000269841;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73732477	73732477	NC_000017.10:g.73732477A>C	ClinGen:CA10640540	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.1884C>T (p.Asp628=)	3691	ITGB4	Conflicting interpretations of pathogenicity	140078827	RCV000897930\|RCV001126064;	N	MedGen:C3661900\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73732669	73732669	17:g.73732669C>T	-
NM_000213.5(ITGB4):c.1889G>A (p.Arg630His)	3691	ITGB4	Uncertain significance	-1	RCV002289281;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73732674	73732674	73732674	-
NM_000213.5(ITGB4):c.1893C>G (p.Ser631=)	3691	ITGB4	Benign	61735295	RCV000332040\|RCV000961520;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	17	73732678	73732678	NC_000017.10:g.73732678C>G	ClinGen:CA8769180	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.1911G>A (p.Ala637=)	3691	ITGB4	Likely benign	376183156	RCV000927227\|RCV002505374;	N	MedGen:CN517202\|MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816; MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73732696	73732696	17:g.73732696G>A	-
NM_000213.5(ITGB4):c.1924G>A (p.Glu642Lys)	3691	ITGB4	Benign	200371855	RCV000886264\|RCV001126065;	N	MedGen:C3661900\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73732709	73732709	17:g.73732709G>A	-
NM_000213.5(ITGB4):c.1936C>T (p.Arg646Cys)	3691	ITGB4	Uncertain significance	201350965	RCV001126066\|RCV002267078;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	17	73732721	73732721	17:g.73732721C>T	-
NM_000213.5(ITGB4):c.1945G>A (p.Glu649Lys)	3691	ITGB4	Uncertain significance	886053411	RCV000388860;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73732730	73732730	NC_000017.10:g.73732730G>A	ClinGen:CA10640541	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.1968G>T (p.Lys656Asn)	3691	ITGB4	Uncertain significance	377703595	RCV000294330;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73732753	73732753	NC_000017.10:g.73732753G>T	ClinGen:CA10650951	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.1972G>T (p.Val658Leu)	3691	ITGB4	Uncertain significance	747235341	RCV000337670;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73732757	73732757	NC_000017.10:g.73732757G>T	ClinGen:CA10640542	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.2009G>A (p.Arg670His)	3691	ITGB4	Benign/Likely benign	149659118	RCV000375947\|RCV000966035;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	17	73733421	73733421	NC_000017.10:g.73733421G>A	ClinGen:CA8769229	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.2012G>C (p.Cys671Ser)	3691	ITGB4	Pathogenic	2061001234	RCV001352877;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73733424	73733424	73733424	-
NM_000213.5(ITGB4):c.2025C>T (p.Asp675=)	3691	ITGB4	Uncertain significance	202097958	RCV000278921;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73733437	73733437	NC_000017.10:g.73733437C>T	ClinGen:CA8769233	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.2067C>T (p.Asp689=)	3691	ITGB4	Uncertain significance	1020515752	RCV001128155;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73733479	73733479	17:g.73733479C>T	-
NM_000213.5(ITGB4):c.2070C>T (p.Gly690=)	3691	ITGB4	Likely benign	140265734	RCV000911700\|RCV002479051;	N	MedGen:C3661900\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403; MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816	17	73733482	73733482	17:g.73733482C>T	-
NM_000213.5(ITGB4):c.2108A>G (p.Lys703Arg)	3691	ITGB4	Benign/Likely benign	56119997	RCV000336596\|RCV002056627;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	17	73733520	73733520	NC_000017.10:g.73733520A>G	ClinGen:CA8769246	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.2115C>A (p.Asp705Glu)	3691	ITGB4	Benign/Likely benign	62639300	RCV001128156\|RCV000903809;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	17	73733620	73733620	17:g.73733620C>A	-
NM_000213.5(ITGB4):c.2123C>T (p.Pro708Leu)	3691	ITGB4	Uncertain significance	146500584	RCV000396730\|RCV001859919\|RCV002495030;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403; MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816	17	73733628	73733628	NC_000017.10:g.73733628C>T	ClinGen:CA8769271	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.2145C>T (p.Ile715=)	3691	ITGB4	Conflicting interpretations of pathogenicity	140999738	RCV001122424\|RCV002069996;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:CN517202	17	73733650	73733650	17:g.73733650C>T	-
NM_000213.5(ITGB4):c.2207G>T (p.Cys736Phe)	3691	ITGB4	Benign/Likely benign	143203816	RCV000306116\|RCV000971160;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	17	73733712	73733712	NC_000017.10:g.73733712G>T	ClinGen:CA8769290	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
GRCh37/hg19 17q25.1(chr17:73735514-73739660)	3691	ITGB4	Pathogenic	-1	RCV001195150;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73735514	73739660	-1	-
NM_000213.5(ITGB4):c.2241G>A (p.Pro747=)	3691	ITGB4	Uncertain significance	377428995	RCV001122425;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73735773	73735773	17:g.73735773G>A	-
NM_000213.5(ITGB4):c.2371C>T (p.Arg791Cys)	3691	ITGB4	Uncertain significance	1368715042	RCV001122426;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73736077	73736077	17:g.73736077C>T	-
NM_000213.5(ITGB4):c.2422G>A (p.Ala808Thr)	3691	ITGB4	Conflicting interpretations of pathogenicity	147480547	RCV000340007\|RCV001262484\|RCV000996607;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MONDO:MONDO:0007551,MedGen:C0080333,OMIM:131800, Orphanet:79400\|MedGen:C3661900	17	73736128	73736128	17:g.73736128G>A	ClinGen:CA8769382	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.2465T>C (p.Leu822Ser)	3691	ITGB4	Pathogenic	902551587	RCV001352878;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73736457	73736457	73736457	-
NM_000213.5(ITGB4):c.2503C>G (p.Pro835Ala)	3691	ITGB4	Likely benign	183705877	RCV000396732\|RCV002523016\|RCV002504101;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403; MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816	17	73736495	73736495	NC_000017.10:g.73736495C>G	ClinGen:CA8769425	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.2503C>A (p.Pro835Thr)	3691	ITGB4	Conflicting interpretations of pathogenicity	183705877	RCV001122427\|RCV002482229\|RCV002558213\|RCV002556638;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403; MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816\|MeSH:D030342,MedGen:C0950123\|MedGen:CN517202	17	73736495	73736495	17:g.73736495C>A	-
NM_000213.5(ITGB4):c.2550+1G>A	3691	ITGB4	Uncertain significance	545619665	RCV000779230;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73736543	73736543	NC_000017.10:g.73736543G>A	-
NM_000213.5(ITGB4):c.2551-10T>C	3691	ITGB4	Uncertain significance	1294215890	RCV001125199;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73736864	73736864	17:g.73736864T>C	-
NM_000213.5(ITGB4):c.2577C>T (p.Ser859=)	3691	ITGB4	Likely benign	148787870	RCV002096643\|RCV002507986;	N	MedGen:C3661900\|MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816; MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73736900	73736900	73736900	-
NM_000213.5(ITGB4):c.2578G>A (p.Gly860Ser)	3691	ITGB4	Uncertain significance	201523797	RCV001125200;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73736901	73736901	17:g.73736901G>A	-
NM_000213.5(ITGB4):c.2609+7C>T	3691	ITGB4	Uncertain significance	368466242	RCV001125201;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73736939	73736939	17:g.73736939C>T	-
NM_000213.5(ITGB4):c.2625C>T (p.Ala875=)	3691	ITGB4	Uncertain significance	561694657	RCV000309168;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73737078	73737078	NC_000017.10:g.73737078C>T	ClinGen:CA10650124	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.2633+1G>A	3691	ITGB4	Pathogenic	1348061804	RCV001352879;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73737087	73737087	73737087	-
NM_000213.5(ITGB4):c.2634-8C>T	3691	ITGB4	Uncertain significance	749527800	RCV000366281;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73738414	73738414	NC_000017.10:g.73738414C>T	ClinGen:CA8769535	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.2638G>A (p.Asp880Asn)	3691	ITGB4	Uncertain significance	139092703	RCV001125202\|RCV002256685;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	17	73738426	73738426	17:g.73738426G>A	-
NM_000213.5(ITGB4):c.2670G>A (p.Ala890=)	3691	ITGB4	Uncertain significance	146449374	RCV001125203;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73738458	73738458	17:g.73738458G>A	-
NM_000213.5(ITGB4):c.2674C>T (p.Arg892Cys)	3691	ITGB4	Uncertain significance	139933962	RCV000269368\|RCV002487433\|RCV003418023;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816; MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|	17	73738462	73738462	NC_000017.10:g.73738462C>T	ClinGen:CA8769542	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.2701C>T (p.Leu901Phe)	3691	ITGB4	Conflicting interpretations of pathogenicity	145644205	RCV001126181\|RCV001788418;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	17	73738489	73738489	17:g.73738489C>T	-
NM_000213.5(ITGB4):c.2730C>T (p.Ala910=)	3691	ITGB4	Benign/Likely benign	61735292	RCV000308145\|RCV000969099\|RCV001729537;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900\|MedGen:CN169374	17	73738518	73738518	NC_000017.10:g.73738518C>T	ClinGen:CA8769558	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.2755G>A (p.Gly919Ser)	3691	ITGB4	Uncertain significance	372890193	RCV001126182\|RCV002482250;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403; MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816	17	73738543	73738543	17:g.73738543G>A	-
NM_000213.5(ITGB4):c.2782+10C>T	3691	ITGB4	Uncertain significance	757546708	RCV000369900\|RCV003105870;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	17	73738580	73738580	NC_000017.10:g.73738580C>T	ClinGen:CA8769568	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.2783-2A>G	3691	ITGB4	Pathogenic/Likely pathogenic	758551913	RCV000190599;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73738661	73738661	NC_000017.10:g.73738661A>G	ClinGen:CA276008	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.2784C>T (p.Asp928=)	3691	ITGB4	Conflicting interpretations of pathogenicity	201900480	RCV000277812\|RCV000842262;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	17	73738664	73738664	NC_000017.10:g.73738664C>T	ClinGen:CA8769588	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.2830G>A (p.Val944Ile)	3691	ITGB4	Uncertain significance	770396319	RCV001126183;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73738710	73738710	17:g.73738710G>A	-
NM_000213.5(ITGB4):c.2833C>T (p.Arg945Trp)	3691	ITGB4	Uncertain significance	150668075	RCV000330491;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73738713	73738713	NC_000017.10:g.73738713C>T	ClinGen:CA8769597	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.2834G>A (p.Arg945Gln)	3691	ITGB4	Uncertain significance	141953294	RCV000990061\|RCV002489462\|RCV003392719;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403; MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816\|	17	73738714	73738714	17:g.73738714G>A	-
NM_000213.5(ITGB4):c.2865C>T (p.Asp955=)	3691	ITGB4	Uncertain significance	780448706	RCV001128249;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73738745	73738745	17:g.73738745C>T	-
NM_000213.5(ITGB4):c.2886G>A (p.Val962=)	3691	ITGB4	Uncertain significance	886053412	RCV000386692;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73738766	73738766	NC_000017.10:g.73738766G>A	ClinGen:CA10650126	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.2918C>A (p.Thr973Asn)	3691	ITGB4	Conflicting interpretations of pathogenicity	146391318	RCV001128250\|RCV002556804;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:CN517202	17	73738798	73738798	17:g.73738798C>A	-
NM_000213.5(ITGB4):c.2922C>T (p.Leu974=)	3691	ITGB4	Conflicting interpretations of pathogenicity	139130590	RCV000954311\|RCV001128251;	N	MedGen:C3661900\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73738802	73738802	17:g.73738802C>T	-
NM_000213.5(ITGB4):c.2929C>T (p.Arg977Cys)	3691	ITGB4	Benign/Likely benign	145976111	RCV000261826\|RCV000950475\|RCV001328148\|RCV001729538\|RCV003327395;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900\|Human Phenotype Ontology:HP:0000100,Human Phenotype Ontology:HP:0000801,Human Phenotype Ontology:HP:0004718,Human Phenotype Ontology:HP:0008638,Human Phenotype Ontology:HP:00	17	73738809	73738809	NC_000017.10:g.73738809C>T	ClinGen:CA8769626	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.2962+5G>T	3691	ITGB4	Uncertain significance	918899742	RCV001128252;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73738847	73738847	17:g.73738847G>T	-
NM_000213.5(ITGB4):c.2962+9G>C	3691	ITGB4	Likely benign	375133413	RCV000911701\|RCV002479052;	N	MedGen:C3661900\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403; MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816	17	73738851	73738851	17:g.73738851G>C	-
NM_000213.5(ITGB4):c.2962+11G>A	3691	ITGB4	Uncertain significance	554755694	RCV001128253;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73738853	73738853	17:g.73738853G>A	-
NM_000213.5(ITGB4):c.2962+14G>A	3691	ITGB4	Uncertain significance	369351466	RCV000319224\|RCV002487434;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403; MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816	17	73738856	73738856	NC_000017.10:g.73738856G>A	ClinGen:CA8769636	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.2963-13G>A	3691	ITGB4	Likely benign	77473568	RCV002116558\|RCV002494396;	N	MedGen:C3661900\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403; MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816	17	73739781	73739781	73739781	-
NM_000213.5(ITGB4):c.2986C>T (p.Gln996Ter)	3691	ITGB4	Likely pathogenic	772142634	RCV000454275;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73739817	73739817	17:g.73739817C>T	ClinGen:CA8769662	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.3040C>T (p.Arg1014Trp)	3691	ITGB4	Pathogenic	1164329850	RCV001352880;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73739871	73739871	73739871	-
NM_000213.5(ITGB4):c.3057C>T (p.Gly1019=)	3691	ITGB4	Uncertain significance	139146525	RCV000371609\|RCV002504102;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403; MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816	17	73739888	73739888	NC_000017.10:g.73739888C>T	ClinGen:CA8769683	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.3097G>A (p.Ala1033Thr)	3691	ITGB4	Uncertain significance	763215637	RCV001122522;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73739928	73739928	17:g.73739928G>A	-
NM_000213.5(ITGB4):c.3099G>A (p.Ala1033=)	3691	ITGB4	Uncertain significance	145314226	RCV001122523;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73739930	73739930	17:g.73739930G>A	-
NM_000213.5(ITGB4):c.3112-3C>T	3691	ITGB4	Conflicting interpretations of pathogenicity	151033645	RCV001122524\|RCV001856614\|RCV002249733\|RCV002491381;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403; MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816	17	73744919	73744919	17:g.73744919C>T	-
NM_000213.5(ITGB4):c.3205T>C (p.Ser1069Pro)	3691	ITGB4	Conflicting interpretations of pathogenicity	530916890	RCV001122525\|RCV002556641;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	17	73745015	73745015	17:g.73745015T>C	-
NM_000213.5(ITGB4):c.3215G>A (p.Arg1072Gln)	3691	ITGB4	Uncertain significance	750423295	RCV000279250\|RCV002480159;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403; MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816	17	73745025	73745025	NC_000017.10:g.73745025G>A	ClinGen:CA8769735	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.3221G>A (p.Arg1074His)	3691	ITGB4	Conflicting interpretations of pathogenicity	147026529	RCV002044160\|RCV002482417\|RCV002545338;	N	MedGen:C3661900\|MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816; MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MeSH:D030342,MedGen:C0950123	17	73745031	73745031	73745031	-
NM_000213.5(ITGB4):c.3230G>T (p.Arg1077Leu)	3691	ITGB4	Uncertain significance	201487753	RCV000322588\|RCV002523017\|RCV002523018;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	17	73745040	73745040	NC_000017.10:g.73745040G>T	ClinGen:CA8769741	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.3232C>G (p.Arg1078Gly)	3691	ITGB4	Uncertain significance	564989714	RCV000379664;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73745042	73745042	NC_000017.10:g.73745042C>G	ClinGen:CA8769743	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.3279_3793+180del	3691	ITGB4	Pathogenic	-1	RCV000015865;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73745084	73747367	73745083	OMIM:147557.0016
NM_000213.5(ITGB4):c.3317A>G (p.Asp1106Gly)	3691	ITGB4	Uncertain significance	370112615	RCV000282833\|RCV002487435;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403; MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816	17	73746192	73746192	NC_000017.10:g.73746192A>G	ClinGen:CA8769794	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.3321_3331del (p.Asp1109fs)	3691	ITGB4	Pathogenic	2061333185	RCV001352881\|RCV002225830\|RCV002499709;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:CN517202\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403; MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816	17	73746194	73746204	73746193	-
NM_000213.5(ITGB4):c.3338C>T (p.Thr1113Met)	3691	ITGB4	Uncertain significance	775373022	RCV000340506;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73746213	73746213	NC_000017.10:g.73746213C>T	ClinGen:CA8769798	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.3384C>T (p.Gly1128=)	3691	ITGB4	Benign	111568842	RCV000903453\|RCV001125308;	N	MedGen:C3661900\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73746259	73746259	17:g.73746259C>T	-
NM_000213.5(ITGB4):c.3427A>G (p.Ile1143Val)	3691	ITGB4	Conflicting interpretations of pathogenicity	149481974	RCV000910699\|RCV002502734;	N	MedGen:C3661900\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403; MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816	17	73746302	73746302	17:g.73746302A>G	-
NM_000213.5(ITGB4):c.3430C>G (p.His1144Asp)	3691	ITGB4	Uncertain significance	765807271	RCV001125309;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73746305	73746305	17:g.73746305C>G	-
NM_000213.5(ITGB4):c.3463A>G (p.Met1155Val)	3691	ITGB4	Uncertain significance	756806922	RCV001125310;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73746338	73746338	17:g.73746338A>G	-
NM_000213.5(ITGB4):c.3474+21T>C	3691	ITGB4	Benign	820388	RCV001730913\|RCV001652847\|RCV001730914\|RCV001730912;	N	MONDO:MONDO:0007551,MedGen:C0080333,OMIM:131800, Orphanet:79400\|MedGen:C3661900\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MONDO:MONDO:0009180,MedGen:C0268374,OMIM:226650, Orphanet:251393, Orphanet:79402, Orphanet:79405, Orphanet:89840	17	73746370	73746370	73746370	-
NM_000213.5(ITGB4):c.3501C>T (p.Ser1167=)	3691	ITGB4	Conflicting interpretations of pathogenicity	141513851	RCV000913290\|RCV001125311;	N	MedGen:C3661900\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73746787	73746787	17:g.73746787C>T	-
NM_000213.5(ITGB4):c.3571G>A (p.Asp1191Asn)	3691	ITGB4	Uncertain significance	765676725	RCV001916434\|RCV002490259;	N	MedGen:C3661900\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403; MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816	17	73746857	73746857	73746857	-
NM_000213.5(ITGB4):c.3598G>A (p.Gly1200Arg)	3691	ITGB4	Conflicting interpretations of pathogenicity	75129664	RCV000403638\|RCV000894709;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	17	73746884	73746884	NC_000017.10:g.73746884G>A	ClinGen:CA8769876	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.3624C>T (p.Ser1208=)	3691	ITGB4	Conflicting interpretations of pathogenicity	145928221	RCV000291309\|RCV002056628;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	17	73746910	73746910	NC_000017.10:g.73746910C>T	ClinGen:CA8769885	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.3655+10C>T	3691	ITGB4	Uncertain significance	767096926	RCV000343897;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73746951	73746951	NC_000017.10:g.73746951C>T	ClinGen:CA8769894	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.3674G>A (p.Arg1225His)	3691	ITGB4	Pathogenic	121912468	RCV000015864;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73747073	73747073	17:g.73747073G>A	ClinGen:CA257310,UniProtKB:P16144#VAR_011301,OMIM:147557.0015	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.3707_3725del (p.Thr1236fs)	3691	ITGB4	Pathogenic	2061355653	RCV001352882;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73747103	73747121	73747102	-
NM_000213.5(ITGB4):c.3729G>A (p.Pro1243=)	3691	ITGB4	Benign	61735289	RCV000395803\|RCV001653587;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	17	73747128	73747128	NC_000017.10:g.73747128G>A	ClinGen:CA8769920	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.3765C>G (p.Val1255=)	3691	ITGB4	Uncertain significance	2061357111	RCV001126282;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73747164	73747164	17:g.73747164C>G	-
NM_000213.5(ITGB4):c.3793+1G>A	3691	ITGB4	Pathogenic	147222357	RCV000015857\|RCV000255841;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:CN517202	17	73747193	73747193	17:g.73747193G>A	ClinGen:CA257302,OMIM:147557.0007	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.3793+2dup	3691	ITGB4	Pathogenic	886041205	RCV000401703\|RCV002280814;	N	MedGen:CN517202\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73747193	73747194	17:g.73747193_73747194insT	ClinGen:CA10603406,OMIM:147557.0001	CN517202 not provided;
NM_000213.5(ITGB4):c.3793+1G>C	3691	ITGB4	Pathogenic	147222357	RCV001844362\|RCV001780424;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	17	73747193	73747193	73747193	-
NM_000213.5(ITGB4):c.3794-9C>T	3691	ITGB4	Conflicting interpretations of pathogenicity	369461189	RCV001126283\|RCV001856652;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:CN517202	17	73748246	73748246	17:g.73748246C>T	-
NM_000213.5(ITGB4):c.3809T>C (p.Met1270Thr)	3691	ITGB4	Uncertain significance	886053413	RCV000313814;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73748270	73748270	NC_000017.10:g.73748270T>C	ClinGen:CA10640550	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.3841C>T (p.Arg1281Trp)	3691	ITGB4	Pathogenic	121912467	RCV000015863\|RCV000359496;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:CN517202	17	73748302	73748302	NC_000017.10:g.73748302C>T	ClinGen:CA257309,UniProtKB:P16144#VAR_004011,OMIM:147557.0014
NM_000213.5(ITGB4):c.3858G>A (p.Glu1286=)	3691	ITGB4	Uncertain significance	372222796	RCV000370688;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73748319	73748319	NC_000017.10:g.73748319G>A	ClinGen:CA8769957	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.3861C>T (p.Asn1287=)	3691	ITGB4	Benign/Likely benign	145351926	RCV000401984\|RCV000882414;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	17	73748322	73748322	NC_000017.10:g.73748322C>T	ClinGen:CA8769958	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.3884G>A (p.Arg1295His)	3691	ITGB4	Uncertain significance	200586694	RCV001126284;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73748345	73748345	17:g.73748345G>A	-
NM_000213.5(ITGB4):c.3885C>T (p.Arg1295=)	3691	ITGB4	Likely benign	375483568	RCV000926702\|RCV002495559;	N	MedGen:C3661900\|MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816; MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73748346	73748346	17:g.73748346C>T	-
NM_000213.5(ITGB4):c.3976+15G>C	3691	ITGB4	Benign/Likely benign	2603499	RCV000299819\|RCV001566989;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	17	73748452	73748452	NC_000017.10:g.73748452G>C	ClinGen:CA8769986	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.3977-19T>A	3691	ITGB4	Pathogenic	1434530468	RCV000015860;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73748508	73748508	73748508	OMIM:147557.0011	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.3977-4G>A	3691	ITGB4	Uncertain significance	369841673	RCV001128332;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73748523	73748523	17:g.73748523G>A	-
NM_000213.5(ITGB4):c.4008C>T (p.Asp1336=)	3691	ITGB4	Benign/Likely benign	61735288	RCV000356943\|RCV000735104\|RCV000954761;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:CN169374\|MedGen:C3661900	17	73748558	73748558	NC_000017.10:g.73748558C>T	ClinGen:CA8770008	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.4018G>A (p.Gly1340Arg)	3691	ITGB4	Conflicting interpretations of pathogenicity	140930313	RCV001974928\|RCV002484697;	N	MedGen:C3661900\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403; MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816	17	73748568	73748568	73748568	-
NM_000213.5(ITGB4):c.4064G>A (p.Arg1355His)	3691	ITGB4	Uncertain significance	373278372	RCV001128333\|RCV002482252\|RCV002556808;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403; MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816\|MedGen:CN517202	17	73748614	73748614	17:g.73748614G>A	-
NM_000213.5(ITGB4):c.4067C>T (p.Ser1356Phe)	3691	ITGB4	Uncertain significance	376560109	RCV001128334\|RCV003238309;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	17	73748617	73748617	17:g.73748617C>T	-
NM_000213.5(ITGB4):c.4093G>A (p.Val1365Ile)	3691	ITGB4	Benign	145750695	RCV000906032\|RCV001128335;	N	MedGen:C3661900\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73748643	73748643	17:g.73748643G>A	-
NM_000213.5(ITGB4):c.4101T>A (p.Asp1367Glu)	3691	ITGB4	Uncertain significance	886053414	RCV000259880;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73748651	73748651	NC_000017.10:g.73748651T>A	ClinGen:CA10646774	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.4319-7C>G	3691	ITGB4	Conflicting interpretations of pathogenicity	376011638	RCV000317453\|RCV002523019;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:CN517202	17	73750650	73750650	NC_000017.10:g.73750650C>G	ClinGen:CA8770080	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.4319-3C>T	3691	ITGB4	Uncertain significance	886053415	RCV000360558;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73750654	73750654	NC_000017.10:g.73750654C>T	ClinGen:CA10640554	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.4364C>T (p.Thr1455Ile)	3691	ITGB4	Uncertain significance	-1	RCV003337895;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73750702	73750702		-
NM_000213.5(ITGB4):c.4389G>A (p.Thr1463=)	3691	ITGB4	Conflicting interpretations of pathogenicity	574417789	RCV000906237\|RCV001122618;	N	MedGen:CN517202\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73750727	73750727	17:g.73750727G>A	-
NM_000213.5(ITGB4):c.4402G>A (p.Ala1468Thr)	3691	ITGB4	Uncertain significance	374857648	RCV001122619\|RCV002497533;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403; MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816	17	73750740	73750740	17:g.73750740G>A	-
NM_000213.5(ITGB4):c.4417C>T (p.Leu1473=)	3691	ITGB4	Benign	138478973	RCV000957655\|RCV002502986;	N	MedGen:C3661900\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403; MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816	17	73750755	73750755	17:g.73750755C>T	-
NM_000213.5(ITGB4):c.4440C>T (p.Arg1480=)	3691	ITGB4	Uncertain significance	781085072	RCV001122620;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73750778	73750778	17:g.73750778C>T	-
NM_000213.5(ITGB4):c.4441G>A (p.Val1481Met)	3691	ITGB4	Likely benign	546010811	RCV000267845\|RCV002523020;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	17	73750779	73750779	NC_000017.10:g.73750779G>A	ClinGen:CA8770114	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.4444C>T (p.Leu1482=)	3691	ITGB4	Uncertain significance	756626295	RCV000320586;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73750782	73750782	NC_000017.10:g.73750782C>T	ClinGen:CA8770115	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.4462C>T (p.Leu1488Phe)	3691	ITGB4	Conflicting interpretations of pathogenicity	-1	RCV002573753\|RCV003340504;	N	MedGen:C3661900\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73750800	73750800	NC_000017.10:g.73750800C>T	-
NM_000213.5(ITGB4):c.4532C>A (p.Ser1511Tyr)	3691	ITGB4	Uncertain significance	374562982	RCV001123706;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73750870	73750870	17:g.73750870C>A	-
NM_000213.5(ITGB4):c.4558G>A (p.Asp1520Asn)	3691	ITGB4	Uncertain significance	-1	RCV002927139\|RCV003147800\|RCV003147799;	N	MedGen:C3661900\|MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73750896	73750896	NC_000017.10:g.73750896G>A	-
NM_000213.5(ITGB4):c.4559-4C>G	3691	ITGB4	Benign	199620842	RCV000328672\|RCV000892418\|RCV001729539;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900\|MedGen:CN169374	17	73751778	73751778	NC_000017.10:g.73751778C>G	ClinGen:CA8770238	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.4564C>T (p.Arg1522Cys)	3691	ITGB4	Uncertain significance	772482963	RCV001123707\|RCV002556676;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:CN517202	17	73751787	73751787	17:g.73751787C>T	-
NM_000213.5(ITGB4):c.4589C>T (p.Thr1530Met)	3691	ITGB4	Likely benign	140575355	RCV000380822\|RCV000914577;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	17	73751812	73751812	NC_000017.10:g.73751812C>T	ClinGen:CA8770247	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.4598G>A (p.Arg1533His)	3691	ITGB4	Uncertain significance	751357499	RCV000288815;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73751821	73751821	NC_000017.10:g.73751821G>A	ClinGen:CA8770251	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.4620del (p.Thr1542fs)	3691	ITGB4	Pathogenic	794726676	RCV000015852;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73751840	73751840	NC_000017.10:g.73751843del	ClinGen:CA257297,OMIM:147557.0010
NM_000213.5(ITGB4):c.4635_4636del (p.Arg1545fs)	3691	ITGB4	Pathogenic/Likely pathogenic	1178371226	RCV001008069\|RCV002497331;	N	MedGen:C3661900\|MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816; MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73751856	73751857	17:g.73751856_73751857del	-
NM_000213.5(ITGB4):c.4643G>A (p.Trp1548Ter)	3691	ITGB4	Pathogenic	121912464	RCV000015858;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73751866	73751866	17:g.73751866G>A	ClinGen:CA257303,OMIM:147557.0008	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.4652C>T (p.Pro1551Leu)	3691	ITGB4	Uncertain significance	745935518	RCV001123708\|RCV002480497\|RCV002556677;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403; MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816\|MeSH:D030342,MedGen:C0950123	17	73751875	73751875	17:g.73751875C>T	-
NM_000213.5(ITGB4):c.4663C>T (p.Arg1555Trp)	3691	ITGB4	Uncertain significance	150277911	RCV000350615;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73751886	73751886	NC_000017.10:g.73751886C>T	ClinGen:CA8770267	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.4664G>A (p.Arg1555Gln)	3691	ITGB4	Uncertain significance	766336707	RCV001527401\|RCV002476841\|RCV002568857;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403; MONDO:MONDO:0009180,MedGen:C0268374,OMIM:226650, Orphanet:251393, Orphanet:79402, Orphanet:79405, Orphanet:89840\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403; MONDO:MONDO:003076	17	73751887	73751887	73751887	-
NM_000213.5(ITGB4):c.4707C>T (p.Gly1569=)	3691	ITGB4	Uncertain significance	138928712	RCV000402623\|RCV002523021\|RCV002502258;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403; MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816	17	73751930	73751930	NC_000017.10:g.73751930C>T	ClinGen:CA8770277	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.4708+2_4708+5del	3691	ITGB4	Uncertain significance	1568385893	RCV000779231;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73751932	73751935	NC_000017.10:g.73751933_73751936del	-
NM_000213.5(ITGB4):c.4708+5G>C	3691	ITGB4	Uncertain significance	2061486620	RCV001126376;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73751936	73751936	17:g.73751936G>C	-
NM_000213.5(ITGB4):c.4709-3del	3691	ITGB4	Benign/Likely benign	56408237	RCV000292211\|RCV000879452;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:CN517202	17	73752502	73752502	NC_000017.10:g.73752507del	ClinGen:CA8770295
NM_000213.5(ITGB4):c.4709-8C>A	3691	ITGB4	Uncertain significance	371797130	RCV001583366\|RCV002495930;	N	MedGen:C3661900\|MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816; MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73752502	73752502	73752502	-
NM_000213.5(ITGB4):c.4719T>C (p.His1573=)	3691	ITGB4	Uncertain significance	1448839951	RCV001126377;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73752520	73752520	17:g.73752520T>C	-
NM_000213.5(ITGB4):c.4734dup (p.Asn1579fs)	3691	ITGB4	Pathogenic	2143532950	RCV001580587;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73752531	73752532	73752531	-
NM_000213.5(ITGB4):c.4751C>T (p.Ser1584Leu)	3691	ITGB4	Uncertain significance	375075647	RCV001986108\|RCV002479696\|RCV002608037;	N	MedGen:C3661900\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403; MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816\|MeSH:D030342,MedGen:C0950123	17	73752552	73752552	73752552	-
NM_000213.5(ITGB4):c.4788C>T (p.Tyr1596=)	3691	ITGB4	Conflicting interpretations of pathogenicity	369145421	RCV001126378\|RCV002070067;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:CN517202	17	73752589	73752589	17:g.73752589C>T	-
NM_000213.5(ITGB4):c.4795C>T (p.Arg1599Cys)	3691	ITGB4	Uncertain significance	373902577	RCV000349541\|RCV002524440;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	17	73752596	73752596	NC_000017.10:g.73752596C>T	ClinGen:CA8770320	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.4829G>A (p.Arg1610Gln)	3691	ITGB4	Uncertain significance	886053417	RCV000396350;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73752630	73752630	NC_000017.10:g.73752630G>A	ClinGen:CA10650138	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.4834C>T (p.Arg1612Cys)	3691	ITGB4	Uncertain significance	538467153	RCV000731249\|RCV002499362;	N	MedGen:C3661900\|MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816; MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73752635	73752635	NC_000017.10:g.73752635C>T	-
NM_000213.5(ITGB4):c.4841G>A (p.Gly1614Asp)	3691	ITGB4	Uncertain significance	756507156	RCV001755182\|RCV002488586\|RCV002540454;	N	MedGen:C3661900\|MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816; MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MeSH:D030342,MedGen:C0950123	17	73752642	73752642	73752642	-
NM_000213.5(ITGB4):c.4857A>G (p.Glu1619=)	3691	ITGB4	Likely benign	369462022	RCV001310380\|RCV002493625;	N	MedGen:C3661900\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403; MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816	17	73752658	73752658		-
NM_000213.5(ITGB4):c.4902C>G (p.Ser1634=)	3691	ITGB4	Benign/Likely benign	57812564	RCV000301340\|RCV000971068;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	17	73752789	73752789	NC_000017.10:g.73752789C>G	ClinGen:CA8770371	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.4932A>G (p.Pro1644=)	3691	ITGB4	Likely benign	368991974	RCV000892195\|RCV002501469;	N	MedGen:CN517202\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403; MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816	17	73752819	73752819	17:g.73752819A>G	-
NM_000213.5(ITGB4):c.4937C>T (p.Pro1646Leu)	3691	ITGB4	Uncertain significance	563796869	RCV000353827\|RCV002523022;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	17	73752824	73752824	NC_000017.10:g.73752824C>T	ClinGen:CA8770377	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.5013C>T (p.Ile1671=)	3691	ITGB4	Conflicting interpretations of pathogenicity	372195997	RCV000396349\|RCV002524441;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:CN517202	17	73752900	73752900	NC_000017.10:g.73752900C>T	ClinGen:CA8770397	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.5053+10A>G	3691	ITGB4	Uncertain significance	886053418	RCV000304998;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73752950	73752950	NC_000017.10:g.73752950A>G	ClinGen:CA10650146	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.5053+14C>T	3691	ITGB4	Conflicting interpretations of pathogenicity	78884789	RCV000362066\|RCV001556550;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	17	73752954	73752954	NC_000017.10:g.73752954C>T	ClinGen:CA8770409	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.5053+15G>A	3691	ITGB4	Uncertain significance	375178466	RCV001128426;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73752955	73752955	17:g.73752955G>A	-
NM_000213.5(ITGB4):c.5054-25C>G	3691	ITGB4	Benign	2249613	RCV001641122\|RCV001730891\|RCV001730892\|RCV001730893;	N	MedGen:C3661900\|MONDO:MONDO:0009180,MedGen:C0268374,OMIM:226650, Orphanet:251393, Orphanet:79402, Orphanet:79405, Orphanet:89840\|MONDO:MONDO:0007551,MedGen:C0080333,OMIM:131800, Orphanet:79400\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73752999	73752999	73752999	-
NM_000213.5(ITGB4):c.5054-11T>C	3691	ITGB4	Uncertain significance	774785239	RCV001128427;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73753013	73753013	17:g.73753013T>C	-
NM_000213.5(ITGB4):c.5055G>C (p.Gly1685=)	3691	ITGB4	Benign/Likely benign	148658410	RCV000303852\|RCV000970327;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	17	73753025	73753025	NC_000017.10:g.73753025G>C	ClinGen:CA8770439	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.5072G>A (p.Arg1691Gln)	3691	ITGB4	Uncertain significance	376139144	RCV000365031\|RCV002521123;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:CN517202	17	73753042	73753042	NC_000017.10:g.73753042G>A	ClinGen:CA8770451	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.5091del (p.Glu1698fs)	3691	ITGB4	Likely pathogenic	1157557804	RCV001250537\|RCV002480861;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816; MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73753058	73753058	17:g.73753058_73753058del	-
NM_000213.5(ITGB4):c.5091C>T (p.Pro1697=)	3691	ITGB4	Likely benign	150804109	RCV000883495\|RCV002487936;	N	MedGen:C3661900\|MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816; MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73753061	73753061	17:g.73753061C>T	-
NM_000213.5(ITGB4):c.5092G>A (p.Glu1698Lys)	3691	ITGB4	Uncertain significance	776496019	RCV000272806\|RCV003114485;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	17	73753062	73753062	NC_000017.10:g.73753062G>A	ClinGen:CA8770459	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.5106C>T (p.Thr1702=)	3691	ITGB4	Uncertain significance	754832163	RCV001122721;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73753076	73753076	17:g.73753076C>T	-
NM_000213.5(ITGB4):c.5121C>T (p.Ser1707=)	3691	ITGB4	Likely benign	201439404	RCV002087222\|RCV002493998;	N	MedGen:C3661900\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403; MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816	17	73753091	73753091		-
NM_000213.5(ITGB4):c.5127C>T (p.Asn1709=)	3691	ITGB4	Conflicting interpretations of pathogenicity	376733146	RCV000325570\|RCV002524442;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:CN517202	17	73753097	73753097	NC_000017.10:g.73753097C>T	ClinGen:CA8770473	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.5128G>A (p.Val1710Met)	3691	ITGB4	Uncertain significance	747376161	RCV001779557\|RCV002482301;	N	MedGen:C3661900\|MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816; MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73753098	73753098	73753098	-
NM_000213.5(ITGB4):c.5172C>T (p.Phe1724=)	3691	ITGB4	Conflicting interpretations of pathogenicity	144339436	RCV000968359\|RCV001122722;	N	MedGen:C3661900\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73753142	73753142	17:g.73753142C>T	-
NM_000213.5(ITGB4):c.5179G>C (p.Glu1727Gln)	3691	ITGB4	Uncertain significance	774308604	RCV000382536\|RCV002504103;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403; MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816	17	73753149	73753149	NC_000017.10:g.73753149G>C	ClinGen:CA8770483	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.5218+12T>C	3691	ITGB4	Benign	55696316	RCV002101036\|RCV002494212;	N	MedGen:C3661900\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403; MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816	17	73753200	73753200	73753200	-
NM_000213.5(ITGB4):c.5219-15A>G	3691	ITGB4	Conflicting interpretations of pathogenicity	142184100	RCV000276703\|RCV002056629;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	17	73753266	73753266	NC_000017.10:g.73753266A>G	ClinGen:CA8770516	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.5219-15A>T	3691	ITGB4	Benign/Likely benign	142184100	RCV001122723\|RCV002070004;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	17	73753266	73753266	17:g.73753266A>T	-
NM_000213.5(ITGB4):c.5229G>A (p.Pro1743=)	3691	ITGB4	Conflicting interpretations of pathogenicity	140140182	RCV000334052\|RCV000904969;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:CN517202	17	73753291	73753291	NC_000017.10:g.73753291G>A	ClinGen:CA8770525	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.5243G>A (p.Arg1748His)	3691	ITGB4	Conflicting interpretations of pathogenicity	151053969	RCV000386190\|RCV002266953;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	17	73753305	73753305	NC_000017.10:g.73753305G>A	ClinGen:CA8770529	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.5248G>A (p.Gly1750Arg)	3691	ITGB4	Benign/Likely benign	151327791	RCV002090912\|RCV002494167;	N	MedGen:C3661900\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403; MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816	17	73753310	73753310	73753310	-
NM_000213.5(ITGB4):c.5264C>T (p.Pro1755Leu)	3691	ITGB4	Conflicting interpretations of pathogenicity	140577812	RCV001123812\|RCV001882406\|RCV002480498;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:CN517202\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403; MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816	17	73753326	73753326	17:g.73753326C>T	-
NM_000213.5(ITGB4):c.5273G>A (p.Ser1758Asn)	3691	ITGB4	Uncertain significance	147573071	RCV001123813\|RCV002491387\|RCV002556681;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403; MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816\|MeSH:D030342,MedGen:C0950123	17	73753335	73753335	17:g.73753335G>A	-
NM_000213.5(ITGB4):c.5297C>T (p.Thr1766Ile)	3691	ITGB4	Uncertain significance	-1	RCV003333308\|RCV003333307;	N	MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73753359	73753359		-
NM_000213.5(ITGB4):c.5307C>T (p.Ser1769=)	3691	ITGB4	Likely benign	145897252	RCV000882180\|RCV002495349;	N	MedGen:C3661900\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403; MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816	17	73753369	73753369	17:g.73753369C>T	-
NM_000213.5(ITGB4):c.5313C>T (p.Thr1771=)	3691	ITGB4	Uncertain significance	138707718	RCV001123814;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73753375	73753375	17:g.73753375C>T	-
NM_000213.5(ITGB4):c.5314G>A (p.Glu1772Lys)	3691	ITGB4	Uncertain significance	375975797	RCV001123815\|RCV002497534;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403; MONDO:MONDO:0030768,MedGen:C5676956,OMIM:619816	17	73753376	73753376	17:g.73753376G>A	-
NM_000213.5(ITGB4):c.5329+2T>C	3691	ITGB4	Likely pathogenic	762236241	RCV000490437;	N	MONDO:MONDO:0007551,MedGen:C0080333,OMIM:131800, Orphanet:79400; MONDO:MONDO:0009180,MedGen:C0268374,OMIM:226650, Orphanet:251393, Orphanet:79402, Orphanet:79405, Orphanet:89840; MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73753393	73753393	17:g.73753393T>C	ClinGen:CA8770556	C0268374 226650 Adult junctional epidermolysis bullosa;
NM_000213.5(ITGB4):c.5367C>T (p.Gly1789=)	3691	ITGB4	Benign/Likely benign	200199740	RCV000909597\|RCV001123816;	N	MedGen:C3661900\|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73753534	73753534	17:g.73753534C>T	-
NM_000213.5(ITGB4):c.5408G>A (p.Arg1803Gln)	3691	ITGB4	Benign/Likely benign	80224547	RCV000337992\|RCV000892996;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403\|MedGen:C3661900	17	73753575	73753575	NC_000017.10:g.73753575G>A	ClinGen:CA8770597	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.5434A>G (p.Ser1812Gly)	3691	ITGB4	Uncertain significance	755224034	RCV001126460;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73753601	73753601	17:g.73753601A>G	-
NM_000213.5(ITGB4):c.*3G>A	3691	ITGB4	Uncertain significance	375665623	RCV001126461;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73753639	73753639	17:g.73753639G>A	-
NM_000213.5(ITGB4):c.*45C>T	3691	ITGB4	Uncertain significance	200901360	RCV000341463;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73753681	73753681	NC_000017.10:g.73753681C>T	ClinGen:CA8770637	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.*58G>A	3691	ITGB4	Uncertain significance	569617597	RCV000393217;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73753694	73753694	NC_000017.10:g.73753694G>A	ClinGen:CA8770641	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;
NM_000213.5(ITGB4):c.*171T>C	3691	ITGB4	Uncertain significance	2061554670	RCV001126462;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	17	73753807	73753807	17:g.73753807T>C	-
NM_201384.3(PLEC):c.1405C>T (p.Gln469Ter)	5339	PLEC	Pathogenic	879255260	RCV000239385;	N	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730, Orphanet:79403	8	145007378	145007378	NC_000008.10:g.145007378G>A	ClinGen:CA10575770	C1856934 226730 Epidermolysis bullosa junctionalis with pyloric atresia;

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