EB-PA
MCID: EPD077
MIFTS: 53

Epidermolysis Bullosa Junctionalis with Pyloric Atresia (EB-PA)

Categories: Fetal diseases, Gastrointestinal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases

Aliases & Classifications for Epidermolysis Bullosa Junctionalis with Pyloric Atresia

MalaCards integrated aliases for Epidermolysis Bullosa Junctionalis with Pyloric Atresia:

Name: Epidermolysis Bullosa Junctionalis with Pyloric Atresia 58 12 54 30 6
Junctional Epidermolysis Bullosa with Pyloric Atresia 58 12 54 76 15
Carmi Syndrome 58 12 54 60 76
Jeb-Pa 58 12 54 60
Epidermolysis Bullosa, Junctional, with Pyloric Atresia 58 13 41
Aplasia Cutis Congenita with Gastrointestinal Atresia 58 54 76
Junctional Epidermolysis Bullosa-Pyloric Atresia Syndrome 12 60
Epidermolysis Bullosa with Pyloric Atresia 54 74
Epidermolysis Bullosa, Junctional, with Pyloric Atresia and Aplasia Cutis Congenita 58
Epidermolysis Bullosa, Junctional, with Pyloric Stenosis 58
Epidermolysis Bullosa Letalis, with Pyloric Atresia 76
Junctional Epidermolysis Bullosa - Pyloric Atresia 54
Eb-Pa-Acc 58
Pa-Jeb 76
Eb-Pa 76

Characteristics:

Orphanet epidemiological data:

60
junctional epidermolysis bullosa-pyloric atresia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: infantile;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in utero
death usually in infancy
see also simplex eb with pyloric atresia


HPO:

33
epidermolysis bullosa junctionalis with pyloric atresia:
Clinical modifier death in infancy
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Epidermolysis Bullosa Junctionalis with Pyloric Atresia

OMIM : 58 Traditionally, EB-PA has been classified as a form of junctional epidermolysis bullosa. Uitto et al. (1997) and Pulkkinen and Uitto (1998) proposed reclassification of the disorder as a 'hemidesmosomal' variant because ultrastructural findings can indicate cleavage in the hemidesmosomal region of the skin. However, in subsequent reports of consensus conferences, 12,11:Fine et al. (2000, 2008) eliminated the term 'hemidesmosomal' because it added undue confusion. The disorder is considered to be a form of junctional EB because skin cleavage occurs within the lamina lucida. Hemidesmosome may be abnormal because the integrins span this region. In a study involving 265 cases of junctional or hemidesmosomal EB, Varki et al. (2006) reviewed the clinical and molecular heterogeneity of these subtypes of EB, discussed exceptions to the general rules on genotype-phenotype correlations, and noted unusual phenotypes and genetics observed in patients and families with EB. (226730)

MalaCards based summary : Epidermolysis Bullosa Junctionalis with Pyloric Atresia, also known as junctional epidermolysis bullosa with pyloric atresia, is related to epidermolysis bullosa with pyloric atresia and epidermolysis bullosa simplex with pyloric atresia. An important gene associated with Epidermolysis Bullosa Junctionalis with Pyloric Atresia is ITGB4 (Integrin Subunit Beta 4), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. Affiliated tissues include skin, kidney and testes, and related phenotypes are nausea and vomiting and abdominal distention

Disease Ontology : 12 A junctional epidermolysis bullosa characterized by generalized blistering at birth with congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract and that has material basis in mutations in the ITGB4 or ITGA6 genes.

UniProtKB/Swiss-Prot : 76 Epidermolysis bullosa letalis, with pyloric atresia: An autosomal recessive, frequently lethal, epidermolysis bullosa with variable involvement of skin, nails, mucosa, and with variable effects on the digestive system. It is characterized by mucocutaneous fragility, aplasia cutis congenita, and gastrointestinal atresia, which most commonly affects the pylorus. Pyloric atresia is a primary manifestation rather than a scarring process secondary to epidermolysis bullosa.

Related Diseases for Epidermolysis Bullosa Junctionalis with Pyloric Atresia

Diseases related to Epidermolysis Bullosa Junctionalis with Pyloric Atresia via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 32, show less)
# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa with pyloric atresia 33.5 ITGA6 ITGB4 PLEC
2 epidermolysis bullosa simplex with pyloric atresia 30.8 ITGB4 PLEC
3 pyloric atresia 30.7 COL17A1 GALK1 ITGA6 ITGA6-AS1 ITGB4 LAMC2
4 junctional epidermolysis bullosa 30.7 COL17A1 DST ITGA6 ITGB4 LAMA3 LAMC2
5 linear iga disease 30.5 COL17A1 DST ITGB4
6 epidermolysis bullosa 30.5 COL17A1 DST ITGA6 ITGB4 LAMA3 LAMC2
7 aplasia cutis congenita 30.3 ACHE ITGA6 ITGB4
8 epidermolysis bullosa, junctional, herlitz type 30.1 ACHE AFP LAMA3 LAMC2
9 kidney disease 10.3
10 autosomal dominant polycystic kidney disease 10.3
11 polycystic kidney disease 10.3
12 maternal uniparental disomy of chromosome 1 10.2 LAMA3 LAMC2
13 pemphigoid gestationis 10.1 COL17A1 DST
14 neurotic excoriation 10.1 COL17A1 DST
15 kindler syndrome 10.1 DST ITGB4
16 lichen planus pemphigoides 10.1 COL17A1 DST ITGB4
17 enterocolitis 10.0
18 protein-losing enteropathy 10.0
19 bullous skin disease 10.0 COL17A1 DST LAMA3
20 epidermolysis bullosa simplex with muscular dystrophy 10.0 COL17A1 DST PLEC
21 lichen disease 10.0 COL17A1 DST
22 cellulitis 10.0 COL17A1 DST LAMA3
23 epithelial basement membrane dystrophy 9.9 COL17A1 PLEC
24 epidermolysis bullosa simplex 9.9 COL17A1 DST ITGB4 PLEC
25 epidermolysis bullosa acquisita 9.9 COL17A1 DST ITGB4 LAMA3
26 autoimmune disease of skin and connective tissue 9.8 COL17A1 DST LAMA3 PLEC
27 nephrotic syndrome, type 1 9.7 ACHE AFP
28 cicatricial pemphigoid 9.6 COL17A1 DST ITGA6 ITGB4 LAMA3 LAMC2
29 vesiculobullous skin disease 9.4 COL17A1 DST ITGA6 ITGB4 LAMA3 LAMC2
30 skin disease 9.4 COL17A1 DST ITGA6 ITGB4 LAMA3 LAMC2
31 epidermolysis bullosa, junctional, non-herlitz type 9.4 COL17A1 DST ITGA6 ITGB4 LAMA3 LAMC2
32 bullous pemphigoid 9.4 COL17A1 DST ITGA6 ITGB4 LAMA3 LAMC2

Graphical network of the top 20 diseases related to Epidermolysis Bullosa Junctionalis with Pyloric Atresia:



Diseases related to Epidermolysis Bullosa Junctionalis with Pyloric Atresia

Symptoms & Phenotypes for Epidermolysis Bullosa Junctionalis with Pyloric Atresia

Human phenotypes related to Epidermolysis Bullosa Junctionalis with Pyloric Atresia:

60 33 (showing 33, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nausea and vomiting 60 33 hallmark (90%) Very frequent (99-80%) HP:0002017
2 abdominal distention 60 33 hallmark (90%) Very frequent (99-80%) HP:0003270
3 intestinal atresia 60 33 hallmark (90%) Very frequent (99-80%) HP:0011100
4 oral mucosal blisters 60 33 hallmark (90%) Very frequent (99-80%) HP:0200097
5 congenital pyloric atresia 60 33 hallmark (90%) Very frequent (99-80%) HP:0004399
6 hematuria 60 33 frequent (33%) Frequent (79-30%) HP:0000790
7 polyhydramnios 60 33 frequent (33%) Frequent (79-30%) HP:0001561
8 renal duplication 60 33 frequent (33%) Frequent (79-30%) HP:0000075
9 hydronephrosis 60 33 frequent (33%) Frequent (79-30%) HP:0000126
10 recurrent skin infections 60 33 frequent (33%) Frequent (79-30%) HP:0001581
11 renal dysplasia 60 33 frequent (33%) Frequent (79-30%) HP:0000110
12 hypoplasia of dental enamel 60 33 frequent (33%) Frequent (79-30%) HP:0006297
13 ureterocele 60 33 frequent (33%) Frequent (79-30%) HP:0000070
14 aplasia of the bladder 60 33 frequent (33%) Frequent (79-30%) HP:0010477
15 urethral stricture 60 33 frequent (33%) Frequent (79-30%) HP:0012227
16 urinary bladder inflammation 60 33 frequent (33%) Frequent (79-30%) HP:0100577
17 nail dystrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0008404
18 ectropion 60 33 occasional (7.5%) Occasional (29-5%) HP:0000656
19 pterygium 60 33 occasional (7.5%) Occasional (29-5%) HP:0001059
20 aplasia cutis congenita 60 33 occasional (7.5%) Occasional (29-5%) HP:0001057
21 abnormal blistering of the skin 60 Very frequent (99-80%)
22 arthrogryposis multiplex congenita 33 HP:0002804
23 anonychia 33 HP:0001798
24 nail dysplasia 33 HP:0002164
25 esophageal atresia 33 HP:0002032
26 abnormality of the genitourinary system 33 HP:0000119
27 elevated maternal serum alpha-fetoprotein 33 HP:0005984
28 milia 33 HP:0001056
29 atrophic scars 33 HP:0001075
30 fragile skin 33 HP:0001030
31 intractable diarrhea 33 HP:0002041
32 junctional split 33 HP:0003341
33 axillary pterygium 33 HP:0001060

Symptoms via clinical synopsis from OMIM:

58
Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Skin Nails Hair Skin:
milia
atrophic scarring
epidermolysis bullosa junctional
blistering, generalized
congenital absence of skin on some areas (aplasia cutis)
more
Skin Nails Hair Nails:
absent nails
dystrophic nails

Head And Neck Ears:
rudimentary ears

Genitourinary Kidneys:
pyelonephrosis

Skin Nails Hair Skin Electron Microscopy:
cleavage occurs within the lamina lucida
hemidesmosomes may be disrupted

Abdomen Gastrointestinal:
esophageal atresia
esophageal lesions
pyloric atresia

Head And Neck Teeth:
enamel hypoplasia

Skeletal:
joint contractures

Head And Neck Mouth:
oral lesions

Genitourinary Bladder:
urethrovesical occlusion
stenosis at the ureterovesical junctions

Laboratory Abnormalities:
increased alpha-fetoprotein in the mother during early pregnancy while carrying an affected fetus

Clinical features from OMIM:

226730

GenomeRNAi Phenotypes related to Epidermolysis Bullosa Junctionalis with Pyloric Atresia according to GeneCards Suite gene sharing:

27 (showing 1, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance GR00210-A 8.92 ITGA6 ITGB4 PLEC SHC1

MGI Mouse Phenotypes related to Epidermolysis Bullosa Junctionalis with Pyloric Atresia:

47 (showing 8, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.06 ACHE CDKN1B FN1 ITGA6 ITGB4 LAMA3
2 homeostasis/metabolism MP:0005376 10.02 ACHE AFP CDKN1B FN1 GALK1 ITGB2
3 craniofacial MP:0005382 9.98 ACHE CDKN1B FN1 ITGA6 ITGB4 LAMA3
4 immune system MP:0005387 9.91 CDKN1B FN1 ITGA6 ITGB2 ITGB4 LAMA3
5 integument MP:0010771 9.81 CDKN1B FN1 ITGA6 ITGB2 ITGB4 LAMA3
6 hearing/vestibular/ear MP:0005377 9.77 ACHE CDKN1B ITGA6 ITGB4 LAMC2
7 mortality/aging MP:0010768 9.7 ACHE AFP CDKN1B FN1 ITGA6 ITGB2
8 respiratory system MP:0005388 9.1 ACHE CDKN1B ITGA6 ITGB4 LAMA3 LAMC2

Drugs & Therapeutics for Epidermolysis Bullosa Junctionalis with Pyloric Atresia

Search Clinical Trials , NIH Clinical Center for Epidermolysis Bullosa Junctionalis with Pyloric Atresia

Genetic Tests for Epidermolysis Bullosa Junctionalis with Pyloric Atresia

Genetic tests related to Epidermolysis Bullosa Junctionalis with Pyloric Atresia:

# Genetic test Affiliating Genes
1 Epidermolysis Bullosa Junctionalis with Pyloric Atresia 30 ITGA6 ITGB4 PLEC

Anatomical Context for Epidermolysis Bullosa Junctionalis with Pyloric Atresia

MalaCards organs/tissues related to Epidermolysis Bullosa Junctionalis with Pyloric Atresia:

42
Skin, Kidney, Testes

Publications for Epidermolysis Bullosa Junctionalis with Pyloric Atresia

Articles related to Epidermolysis Bullosa Junctionalis with Pyloric Atresia:

(showing 24, show less)
# Title Authors Year
1
Mild phenotype of junctional epidermolysis bullosa with pyloric atresia due to a novel mutation of the ITGB4 gene. ( 29380424 )
2018
2
Compound heterozygosity for novel splice site mutations of ITGA6 in lethal junctional epidermolysis bullosa with pyloric atresia. ( 27607025 )
2017
3
Lethal junctional epidermolysis bullosa with pyloric atresia due to compound heterozygosity for two novel mutations in the integrin β4 gene. ( 21969027 )
2012
4
Complete paternal isodisomy of chromosome 17 in junctional epidermolysis bullosa with pyloric atresia. ( 20596088 )
2010
5
Deletion of the first pair of fibronectin type III repeats of the integrin beta-4 gene is associated with epidermolysis bullosa, pyloric atresia and aplasia cutis congenita in the original Carmi syndrome patients. ( 18348258 )
2008
6
ITGB4 missense mutation in a transmembrane domain causes non-lethal variant of junctional epidermolysis bullosa with pyloric atresia. ( 17512702 )
2007
7
Intracellular degradation of beta4 integrin in lethal junctional epidermolysis bullosa with pyloric atresia. ( 15491419 )
2004
8
Rapid decay of alpha6 integrin caused by a mis-sense mutation in the propeller domain results in severe junctional epidermolysis bullosa with pyloric atresia. ( 14675179 )
2003
9
Novel and recurrent mutations in the integrin beta 4 subunit gene causing lethal junctional epidermolysis bullosa with pyloric atresia. ( 14705814 )
2003
10
Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations. ( 11328943 )
2001
11
Two different mutations in the cytoplasmic domain of the integrin beta 4 subunit in nonlethal forms of epidermolysis bullosa prevent interaction of beta 4 with plectin. ( 11886501 )
2001
12
Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia. ( 11251584 )
2001
13
Splicing modulation of integrin beta4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing. ( 10484780 )
1999
14
Epidermolysis bullosa, pyloric atresia, aplasia cutis congenita: histopathological delineation of an autosomal recessive disease. ( 9674902 )
1998
15
Compound heterozygosity for missense (L156P) and nonsense (R554X) mutations in the beta4 integrin gene (ITGB4) underlies mild, nonlethal phenotype of epidermolysis bullosa with pyloric atresia. ( 9546354 )
1998
16
Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense. ( 9792864 )
1998
17
A novel homozygous mutation affecting integrin alpha6 in a case of junctional epidermolysis bullosa with pyloric atresia detected in utero by ultrasound examination. ( 9804362 )
1998
18
Junctional epidermolysis bullosa with pyloric atresia: A case with favourable outcome. ( 9822785 )
1998
19
Pyloric atresia-junctional epidermolysis bullosa syndrome: mutations in the integrin beta4 gene (ITGB4) in two unrelated patients with mild disease. ( 9892956 )
1998
20
A homozygous mutation in the integrin alpha6 gene in junctional epidermolysis bullosa with pyloric atresia. ( 9185503 )
1997
21
Deficiency of the integrin beta 4 subunit in junctional epidermolysis bullosa with pyloric atresia: consequences for hemidesmosome formation and adhesion properties. ( 8832392 )
1996
22
Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia. ( 7545057 )
1995
23
Prenatal testing in a fetus at risk for autosomal dominant polycystic kidney disease and autosomal recessive junctional epidermolysis bullosa with pyloric atresia. ( 8291561 )
1993
24
Aplasia cutis congenita in two sibs discordant for pyloric atresia. ( 6177243 )
1982

Variations for Epidermolysis Bullosa Junctionalis with Pyloric Atresia

UniProtKB/Swiss-Prot genetic disease variations for Epidermolysis Bullosa Junctionalis with Pyloric Atresia:

76 (showing 13, show less)
# Symbol AA change Variation ID SNP ID
1 ITGB4 p.Cys61Tyr VAR_004006 rs80338755
2 ITGB4 p.Leu156Pro VAR_004007 rs121912461
3 ITGB4 p.Cys245Gly VAR_004008
4 ITGB4 p.Arg252Cys VAR_004009 rs201494421
5 ITGB4 p.Cys562Arg VAR_004010 rs121912463
6 ITGB4 p.Arg1281Trp VAR_004011 rs121912467
7 ITGB4 p.Cys38Arg VAR_010652 rs121912465
8 ITGB4 p.Asp131Tyr VAR_011293
9 ITGB4 p.Gly273Asp VAR_011294 rs147656858
10 ITGB4 p.Arg283Cys VAR_011295 rs142279713
11 ITGB4 p.Val325Asp VAR_011296 rs130488852
12 ITGB4 p.Leu336Pro VAR_011297
13 ITGB4 p.Arg1225His VAR_011301 rs121912468

ClinVar genetic disease variations for Epidermolysis Bullosa Junctionalis with Pyloric Atresia:

6 (showing 427, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 ITGB4 ITGB4, 1-BP INS, 3801T insertion Pathogenic
2 ITGB4 ITGB4, 1-BP DEL, 1150G deletion Pathogenic
3 ITGB4 NM_000213.4(ITGB4): c.4620del (p.Thr1542Hisfs) deletion Pathogenic rs794726676 GRCh37 Chromosome 17, 73751843: 73751843
4 ITGB4 NM_000213.4(ITGB4): c.4620del (p.Thr1542Hisfs) deletion Pathogenic rs794726676 GRCh38 Chromosome 17, 75755762: 75755762
5 ITGB4 NM_000213.4(ITGB4): c.467T> C (p.Leu156Pro) single nucleotide variant Pathogenic rs121912461 GRCh37 Chromosome 17, 73723934: 73723934
6 ITGB4 NM_000213.4(ITGB4): c.467T> C (p.Leu156Pro) single nucleotide variant Pathogenic rs121912461 GRCh38 Chromosome 17, 75727853: 75727853
7 ITGB4 NM_000213.4(ITGB4): c.1660C> T (p.Arg554Ter) single nucleotide variant Pathogenic rs121912462 GRCh37 Chromosome 17, 73732134: 73732134
8 ITGB4 NM_000213.4(ITGB4): c.1660C> T (p.Arg554Ter) single nucleotide variant Pathogenic rs121912462 GRCh38 Chromosome 17, 75736053: 75736053
9 ITGB4 NM_000213.3(ITGB4): c.182G> A (p.Cys61Tyr) single nucleotide variant Pathogenic rs80338755 GRCh37 Chromosome 17, 73723504: 73723504
10 ITGB4 NM_000213.3(ITGB4): c.182G> A (p.Cys61Tyr) single nucleotide variant Pathogenic rs80338755 GRCh38 Chromosome 17, 75727423: 75727423
11 ITGB4 NM_000213.4(ITGB4): c.1684T> C (p.Cys562Arg) single nucleotide variant Pathogenic rs121912463 GRCh37 Chromosome 17, 73732158: 73732158
12 ITGB4 NM_000213.4(ITGB4): c.1684T> C (p.Cys562Arg) single nucleotide variant Pathogenic rs121912463 GRCh38 Chromosome 17, 75736077: 75736077
13 ITGB4 NM_000213.4(ITGB4): c.3793+1G> A single nucleotide variant Pathogenic rs147222357 GRCh37 Chromosome 17, 73747193: 73747193
14 ITGB4 NM_000213.4(ITGB4): c.3793+1G> A single nucleotide variant Pathogenic rs147222357 GRCh38 Chromosome 17, 75751112: 75751112
15 ITGB4 NM_001005619.1(ITGB4): c.4592G> A (p.Trp1531Ter) single nucleotide variant Pathogenic rs121912464 GRCh37 Chromosome 17, 73751866: 73751866
16 ITGB4 NM_001005619.1(ITGB4): c.4592G> A (p.Trp1531Ter) single nucleotide variant Pathogenic rs121912464 GRCh38 Chromosome 17, 75755785: 75755785
17 ITGB4 NM_000213.4(ITGB4): c.112T> C (p.Cys38Arg) single nucleotide variant Pathogenic rs121912465 GRCh37 Chromosome 17, 73723307: 73723307
18 ITGB4 NM_000213.4(ITGB4): c.112T> C (p.Cys38Arg) single nucleotide variant Pathogenic rs121912465 GRCh38 Chromosome 17, 75727227: 75727227
19 ITGB4 ITGB4, IVS31DS, T-A, -19 single nucleotide variant Pathogenic
20 ITGB4 NM_000213.3(ITGB4): c.3841C> T (p.Arg1281Trp) single nucleotide variant Pathogenic rs121912467 GRCh37 Chromosome 17, 73748302: 73748302
21 ITGB4 NM_000213.3(ITGB4): c.3841C> T (p.Arg1281Trp) single nucleotide variant Pathogenic rs121912467 GRCh38 Chromosome 17, 75752221: 75752221
22 ITGB4 NM_000213.4(ITGB4): c.3674G> A (p.Arg1225His) single nucleotide variant Pathogenic rs121912468 GRCh37 Chromosome 17, 73747073: 73747073
23 ITGB4 NM_000213.4(ITGB4): c.3674G> A (p.Arg1225His) single nucleotide variant Pathogenic rs121912468 GRCh38 Chromosome 17, 75750992: 75750992
24 ITGB4 ITGB4, 2,279-BP DEL deletion Pathogenic
25 ITGA6 ITGA6, 1-BP DEL, 791C deletion Pathogenic
26 PLEC NM_000445.4(PLEC): c.2578C> T (p.Pro860Ser) single nucleotide variant Uncertain significance rs782532633 GRCh37 Chromosome 8, 145004427: 145004427
27 PLEC NM_000445.4(PLEC): c.2578C> T (p.Pro860Ser) single nucleotide variant Uncertain significance rs782532633 GRCh38 Chromosome 8, 143930259: 143930259
28 PLEC NM_000445.4(PLEC): c.6164C> T (p.Ala2055Val) single nucleotide variant Uncertain significance rs781895825 GRCh37 Chromosome 8, 144998014: 144998014
29 PLEC NM_000445.4(PLEC): c.6164C> T (p.Ala2055Val) single nucleotide variant Uncertain significance rs781895825 GRCh38 Chromosome 8, 143923846: 143923846
30 PLEC NM_000445.4(PLEC): c.4607G> A (p.Arg1536His) single nucleotide variant Uncertain significance rs782666455 GRCh37 Chromosome 8, 144999571: 144999571
31 PLEC NM_000445.4(PLEC): c.4607G> A (p.Arg1536His) single nucleotide variant Uncertain significance rs782666455 GRCh38 Chromosome 8, 143925403: 143925403
32 PLEC NM_000445.4(PLEC): c.5396C> T (p.Ala1799Val) single nucleotide variant Uncertain significance rs782439290 GRCh37 Chromosome 8, 144998782: 144998782
33 PLEC NM_000445.4(PLEC): c.5396C> T (p.Ala1799Val) single nucleotide variant Uncertain significance rs782439290 GRCh38 Chromosome 8, 143924614: 143924614
34 PLEC NM_000445.4(PLEC): c.11147C> T (p.Thr3716Met) single nucleotide variant Uncertain significance rs377252521 GRCh37 Chromosome 8, 144992923: 144992923
35 PLEC NM_000445.4(PLEC): c.11147C> T (p.Thr3716Met) single nucleotide variant Uncertain significance rs377252521 GRCh38 Chromosome 8, 143918755: 143918755
36 ITGB4 NM_000213.4(ITGB4): c.2783-2A> G single nucleotide variant Likely pathogenic rs758551913 GRCh38 Chromosome 17, 75742580: 75742580
37 ITGB4 NM_000213.4(ITGB4): c.2783-2A> G single nucleotide variant Likely pathogenic rs758551913 GRCh37 Chromosome 17, 73738661: 73738661
38 PLEC NM_000445.4(PLEC): c.1486C> T (p.Gln496Ter) single nucleotide variant Pathogenic rs879255260 GRCh38 Chromosome 8, 143933210: 143933210
39 PLEC NM_000445.4(PLEC): c.1486C> T (p.Gln496Ter) single nucleotide variant Pathogenic rs879255260 GRCh37 Chromosome 8, 145007378: 145007378
40 ITGA6 NM_001079818.2(ITGA6): c.3234dupA (p.Gln1079Thrfs) duplication Uncertain significance rs201055917 GRCh37 Chromosome 2, 173368938: 173368938
41 ITGA6 NM_001079818.2(ITGA6): c.3234dupA (p.Gln1079Thrfs) duplication Uncertain significance rs201055917 GRCh38 Chromosome 2, 172504210: 172504210
42 ITGB4 NM_000213.4(ITGB4): c.5329+2T> C single nucleotide variant Likely pathogenic rs762236241 GRCh37 Chromosome 17, 73753393: 73753393
43 ITGB4 NM_000213.4(ITGB4): c.5329+2T> C single nucleotide variant Likely pathogenic rs762236241 GRCh38 Chromosome 17, 75757312: 75757312
44 GALK1; ITGB4 NM_000213.4(ITGB4): c.4521C> G (p.Pro1507=) single nucleotide variant Benign rs8669 GRCh37 Chromosome 17, 73750859: 73750859
45 GALK1; ITGB4 NM_000213.4(ITGB4): c.4521C> G (p.Pro1507=) single nucleotide variant Benign rs8669 GRCh38 Chromosome 17, 75754778: 75754778
46 GALK1; ITGB4 NM_001005731.2(ITGB4): c.5126T> C (p.Leu1709Pro) single nucleotide variant Benign rs871443 GRCh38 Chromosome 17, 75757422: 75757422
47 GALK1; ITGB4 NM_001005731.2(ITGB4): c.5126T> C (p.Leu1709Pro) single nucleotide variant Benign rs871443 GRCh37 Chromosome 17, 73753503: 73753503
48 PLEC NM_000445.4(PLEC): c.8882C> T (p.Thr2961Met) single nucleotide variant Uncertain significance rs368122904 GRCh37 Chromosome 8, 144995188: 144995188
49 PLEC NM_000445.4(PLEC): c.8882C> T (p.Thr2961Met) single nucleotide variant Uncertain significance rs368122904 GRCh38 Chromosome 8, 143921020: 143921020
50 PLEC NM_000445.4(PLEC): c.5329C> T (p.Arg1777Trp) single nucleotide variant Uncertain significance rs782410213 GRCh37 Chromosome 8, 144998849: 144998849
51 PLEC NM_000445.4(PLEC): c.5329C> T (p.Arg1777Trp) single nucleotide variant Uncertain significance rs782410213 GRCh38 Chromosome 8, 143924681: 143924681
52 ITGA6 NM_000210.3(ITGA6): c.388-13C> A single nucleotide variant Likely benign rs1574028 GRCh38 Chromosome 2, 172469112: 172469112
53 ITGA6 NM_000210.3(ITGA6): c.388-13C> A single nucleotide variant Likely benign rs1574028 GRCh37 Chromosome 2, 173333840: 173333840
54 ITGA6 NM_000210.3(ITGA6): c.1374A> G (p.Ser458=) single nucleotide variant Uncertain significance rs138908657 GRCh38 Chromosome 2, 172476499: 172476499
55 ITGA6 NM_000210.3(ITGA6): c.1374A> G (p.Ser458=) single nucleotide variant Uncertain significance rs138908657 GRCh37 Chromosome 2, 173341227: 173341227
56 ITGA6 NM_000210.3(ITGA6): c.1388+8A> T single nucleotide variant Likely benign rs16860507 GRCh38 Chromosome 2, 172476521: 172476521
57 ITGA6 NM_000210.3(ITGA6): c.1388+8A> T single nucleotide variant Likely benign rs16860507 GRCh37 Chromosome 2, 173341249: 173341249
58 ITGA6 NM_000210.3(ITGA6): c.1969A> G (p.Ile657Val) single nucleotide variant Uncertain significance rs368015396 GRCh38 Chromosome 2, 172487137: 172487137
59 ITGA6 NM_000210.3(ITGA6): c.1969A> G (p.Ile657Val) single nucleotide variant Uncertain significance rs368015396 GRCh37 Chromosome 2, 173351865: 173351865
60 ITGA6 NM_000210.3(ITGA6): c.2109G> A (p.Thr703=) single nucleotide variant Uncertain significance rs141344340 GRCh38 Chromosome 2, 172487402: 172487402
61 ITGA6 NM_000210.3(ITGA6): c.2109G> A (p.Thr703=) single nucleotide variant Uncertain significance rs141344340 GRCh37 Chromosome 2, 173352130: 173352130
62 ITGA6 NM_000210.3(ITGA6): c.2861C> T (p.Ser954Leu) single nucleotide variant Uncertain significance rs565088728 GRCh38 Chromosome 2, 172491303: 172491303
63 ITGA6 NM_000210.3(ITGA6): c.2861C> T (p.Ser954Leu) single nucleotide variant Uncertain significance rs565088728 GRCh37 Chromosome 2, 173356031: 173356031
64 ITGA6 NM_000210.3(ITGA6): c.*204_*205insT insertion Likely benign rs61499296 GRCh37 Chromosome 2, 173369000: 173369001
65 ITGA6 NM_000210.3(ITGA6): c.*204_*205insT insertion Likely benign rs61499296 GRCh38 Chromosome 2, 172504272: 172504273
66 ITGA6 NM_000210.3(ITGA6): c.*435A> G single nucleotide variant Benign rs17664 GRCh38 Chromosome 2, 172504503: 172504503
67 ITGA6 NM_000210.3(ITGA6): c.*435A> G single nucleotide variant Benign rs17664 GRCh37 Chromosome 2, 173369231: 173369231
68 ITGA6 NM_000210.3(ITGA6): c.*678T> C single nucleotide variant Uncertain significance rs886055132 GRCh38 Chromosome 2, 172504746: 172504746
69 ITGA6 NM_000210.3(ITGA6): c.*678T> C single nucleotide variant Uncertain significance rs886055132 GRCh37 Chromosome 2, 173369474: 173369474
70 ITGA6 NM_000210.3(ITGA6): c.*867T> C single nucleotide variant Uncertain significance rs577105842 GRCh38 Chromosome 2, 172504935: 172504935
71 ITGA6 NM_000210.3(ITGA6): c.*867T> C single nucleotide variant Uncertain significance rs577105842 GRCh37 Chromosome 2, 173369663: 173369663
72 ITGA6 NM_000210.3(ITGA6): c.*1901dup duplication Likely benign rs139972066 GRCh38 Chromosome 2, 172505969: 172505969
73 ITGA6 NM_000210.3(ITGA6): c.*1901dup duplication Likely benign rs139972066 GRCh37 Chromosome 2, 173370697: 173370697
74 ITGA6 NM_000210.3(ITGA6): c.*2349T> C single nucleotide variant Likely benign rs16860641 GRCh38 Chromosome 2, 172506417: 172506417
75 ITGA6 NM_000210.3(ITGA6): c.*2349T> C single nucleotide variant Likely benign rs16860641 GRCh37 Chromosome 2, 173371145: 173371145
76 ITGA6 NM_000210.3(ITGA6): c.*2374T> C single nucleotide variant Likely benign rs16860642 GRCh38 Chromosome 2, 172506442: 172506442
77 ITGA6 NM_000210.3(ITGA6): c.*2374T> C single nucleotide variant Likely benign rs16860642 GRCh37 Chromosome 2, 173371170: 173371170
78 ITGA6 NM_000210.3(ITGA6): c.1393C> T (p.Arg465Trp) single nucleotide variant Uncertain significance rs773159811 GRCh38 Chromosome 2, 172479645: 172479645
79 ITGA6 NM_000210.3(ITGA6): c.1393C> T (p.Arg465Trp) single nucleotide variant Uncertain significance rs773159811 GRCh37 Chromosome 2, 173344373: 173344373
80 ITGA6 NM_000210.3(ITGA6): c.1487+7A> G single nucleotide variant Benign rs1920979 GRCh38 Chromosome 2, 172479746: 172479746
81 ITGA6 NM_000210.3(ITGA6): c.1487+7A> G single nucleotide variant Benign rs1920979 GRCh37 Chromosome 2, 173344474: 173344474
82 ITGA6 NM_000210.3(ITGA6): c.1970+12_1970+14del deletion Uncertain significance rs532175144 GRCh38 Chromosome 2, 172487150: 172487152
83 ITGA6 NM_000210.3(ITGA6): c.1970+12_1970+14del deletion Uncertain significance rs532175144 GRCh37 Chromosome 2, 173351878: 173351880
84 ITGA6 NM_000210.3(ITGA6): c.2136A> T (p.Ala712=) single nucleotide variant Benign rs2293648 GRCh37 Chromosome 2, 173352157: 173352157
85 ITGA6 NM_000210.3(ITGA6): c.2136A> T (p.Ala712=) single nucleotide variant Benign rs2293648 GRCh38 Chromosome 2, 172487429: 172487429
86 ITGA6 NM_000210.3(ITGA6): c.2247C> G (p.Val749=) single nucleotide variant Uncertain significance rs61748247 GRCh38 Chromosome 2, 172487730: 172487730
87 ITGA6 NM_000210.3(ITGA6): c.2247C> G (p.Val749=) single nucleotide variant Uncertain significance rs61748247 GRCh37 Chromosome 2, 173352458: 173352458
88 ITGA6 NM_000210.3(ITGA6): c.2651A> G (p.Gln884Arg) single nucleotide variant Uncertain significance rs61757096 GRCh38 Chromosome 2, 172489630: 172489630
89 ITGA6 NM_000210.3(ITGA6): c.2651A> G (p.Gln884Arg) single nucleotide variant Uncertain significance rs61757096 GRCh37 Chromosome 2, 173354358: 173354358
90 ITGA6 NM_000210.3(ITGA6): c.2728G> A (p.Asp910Asn) single nucleotide variant Uncertain significance rs61737182 GRCh38 Chromosome 2, 172491072: 172491072
91 ITGA6 NM_000210.3(ITGA6): c.2728G> A (p.Asp910Asn) single nucleotide variant Uncertain significance rs61737182 GRCh37 Chromosome 2, 173355800: 173355800
92 ITGA6 NM_000210.3(ITGA6): c.2819C> T (p.Pro940Leu) single nucleotide variant Uncertain significance rs138874769 GRCh38 Chromosome 2, 172491261: 172491261
93 ITGA6 NM_000210.3(ITGA6): c.2819C> T (p.Pro940Leu) single nucleotide variant Uncertain significance rs138874769 GRCh37 Chromosome 2, 173355989: 173355989
94 ITGA6 NM_000210.3(ITGA6): c.2989-6C> T single nucleotide variant Likely benign rs147900066 GRCh38 Chromosome 2, 172497969: 172497969
95 ITGA6 NM_000210.3(ITGA6): c.2989-6C> T single nucleotide variant Likely benign rs147900066 GRCh37 Chromosome 2, 173362697: 173362697
96 ITGA6 NM_000210.3(ITGA6): c.*308C> T single nucleotide variant Uncertain significance rs555954477 GRCh37 Chromosome 2, 173369104: 173369104
97 ITGA6 NM_000210.3(ITGA6): c.*308C> T single nucleotide variant Uncertain significance rs555954477 GRCh38 Chromosome 2, 172504376: 172504376
98 ITGA6 NM_000210.3(ITGA6): c.*434_*435insG insertion Uncertain significance rs886055131 GRCh38 Chromosome 2, 172504502: 172504503
99 ITGA6 NM_000210.3(ITGA6): c.*434_*435insG insertion Uncertain significance rs886055131 GRCh37 Chromosome 2, 173369230: 173369231
100 ITGA6 NM_000210.3(ITGA6): c.*595C> T single nucleotide variant Likely benign rs114005087 GRCh38 Chromosome 2, 172504663: 172504663
101 ITGA6 NM_000210.3(ITGA6): c.*595C> T single nucleotide variant Likely benign rs114005087 GRCh37 Chromosome 2, 173369391: 173369391
102 ITGA6 NM_000210.3(ITGA6): c.*703G> A single nucleotide variant Uncertain significance rs886055133 GRCh38 Chromosome 2, 172504771: 172504771
103 ITGA6 NM_000210.3(ITGA6): c.*703G> A single nucleotide variant Uncertain significance rs886055133 GRCh37 Chromosome 2, 173369499: 173369499
104 ITGA6 NM_000210.3(ITGA6): c.*782A> C single nucleotide variant Uncertain significance rs886055134 GRCh38 Chromosome 2, 172504850: 172504850
105 ITGA6 NM_000210.3(ITGA6): c.*782A> C single nucleotide variant Uncertain significance rs886055134 GRCh37 Chromosome 2, 173369578: 173369578
106 ITGA6 NM_000210.3(ITGA6): c.*882A> C single nucleotide variant Uncertain significance rs147290718 GRCh38 Chromosome 2, 172504950: 172504950
107 ITGA6 NM_000210.3(ITGA6): c.*882A> C single nucleotide variant Uncertain significance rs147290718 GRCh37 Chromosome 2, 173369678: 173369678
108 ITGA6 NM_000210.3(ITGA6): c.*1194A> G single nucleotide variant Likely benign rs16860635 GRCh38 Chromosome 2, 172505262: 172505262
109 ITGA6 NM_000210.3(ITGA6): c.*1194A> G single nucleotide variant Likely benign rs16860635 GRCh37 Chromosome 2, 173369990: 173369990
110 ITGA6 NM_000210.3(ITGA6): c.*1383C> G single nucleotide variant Uncertain significance rs886055137 GRCh38 Chromosome 2, 172505451: 172505451
111 ITGA6 NM_000210.3(ITGA6): c.*1383C> G single nucleotide variant Uncertain significance rs886055137 GRCh37 Chromosome 2, 173370179: 173370179
112 ITGA6 NM_000210.3(ITGA6): c.*1655G> T single nucleotide variant Uncertain significance rs117775734 GRCh38 Chromosome 2, 172505723: 172505723
113 ITGA6 NM_000210.3(ITGA6): c.*1655G> T single nucleotide variant Uncertain significance rs117775734 GRCh37 Chromosome 2, 173370451: 173370451
114 ITGA6 NM_000210.3(ITGA6): c.*1795C> G single nucleotide variant Uncertain significance rs150636343 GRCh38 Chromosome 2, 172505863: 172505863
115 ITGA6 NM_000210.3(ITGA6): c.*1795C> G single nucleotide variant Uncertain significance rs150636343 GRCh37 Chromosome 2, 173370591: 173370591
116 ITGA6 NM_000210.3(ITGA6): c.*2069del deletion Uncertain significance rs886055143 GRCh38 Chromosome 2, 172506137: 172506137
117 ITGA6 NM_000210.3(ITGA6): c.*2069del deletion Uncertain significance rs886055143 GRCh37 Chromosome 2, 173370865: 173370865
118 ITGA6 NM_000210.3(ITGA6): c.*2315A> G single nucleotide variant Uncertain significance rs886055144 GRCh38 Chromosome 2, 172506383: 172506383
119 ITGA6 NM_000210.3(ITGA6): c.*2315A> G single nucleotide variant Uncertain significance rs886055144 GRCh37 Chromosome 2, 173371111: 173371111
120 ITGA6 NM_000210.3(ITGA6): c.*2362_*2364dup duplication Uncertain significance rs886055145 GRCh38 Chromosome 2, 172506430: 172506432
121 ITGA6 NM_000210.3(ITGA6): c.*2362_*2364dup duplication Uncertain significance rs886055145 GRCh37 Chromosome 2, 173371158: 173371160
122 ITGA6 NM_000210.3(ITGA6): c.-156G> A single nucleotide variant Uncertain significance rs886055127 GRCh38 Chromosome 2, 172427633: 172427633
123 ITGA6 NM_000210.3(ITGA6): c.-156G> A single nucleotide variant Uncertain significance rs886055127 GRCh37 Chromosome 2, 173292361: 173292361
124 ITGA6 NM_000210.3(ITGA6): c.-122C> T single nucleotide variant Uncertain significance rs373890886 GRCh38 Chromosome 2, 172427667: 172427667
125 ITGA6 NM_000210.3(ITGA6): c.-122C> T single nucleotide variant Uncertain significance rs373890886 GRCh37 Chromosome 2, 173292395: 173292395
126 ITGA6 NM_000210.3(ITGA6): c.182+11A> G single nucleotide variant Benign rs6744873 GRCh38 Chromosome 2, 172427981: 172427981
127 ITGA6 NM_000210.3(ITGA6): c.182+11A> G single nucleotide variant Benign rs6744873 GRCh37 Chromosome 2, 173292709: 173292709
128 ITGA6 NM_000210.3(ITGA6): c.182+15C> T single nucleotide variant Benign rs6716540 GRCh38 Chromosome 2, 172427985: 172427985
129 ITGA6 NM_000210.3(ITGA6): c.182+15C> T single nucleotide variant Benign rs6716540 GRCh37 Chromosome 2, 173292713: 173292713
130 ITGA6 NM_000210.3(ITGA6): c.963G> A (p.Ala321=) single nucleotide variant Uncertain significance rs745506887 GRCh38 Chromosome 2, 172474242: 172474242
131 ITGA6 NM_000210.3(ITGA6): c.963G> A (p.Ala321=) single nucleotide variant Uncertain significance rs745506887 GRCh37 Chromosome 2, 173338970: 173338970
132 ITGA6 NM_000210.3(ITGA6): c.1138G> A (p.Ala380Thr) single nucleotide variant Benign rs11895564 GRCh38 Chromosome 2, 172475080: 172475080
133 ITGA6 NM_000210.3(ITGA6): c.1138G> A (p.Ala380Thr) single nucleotide variant Benign rs11895564 GRCh37 Chromosome 2, 173339808: 173339808
134 ITGA6 NM_000210.3(ITGA6): c.1744A> G (p.Ile582Val) single nucleotide variant Uncertain significance rs16860530 GRCh38 Chromosome 2, 172485154: 172485154
135 ITGA6 NM_000210.3(ITGA6): c.1744A> G (p.Ile582Val) single nucleotide variant Uncertain significance rs16860530 GRCh37 Chromosome 2, 173349882: 173349882
136 ITGA6 NM_000210.3(ITGA6): c.2245-3del deletion Likely benign rs746830225 GRCh38 Chromosome 2, 172487725: 172487725
137 ITGA6 NM_000210.3(ITGA6): c.2245-3del deletion Likely benign rs746830225 GRCh37 Chromosome 2, 173352453: 173352453
138 ITGA6 NM_000210.3(ITGA6): c.2296G> T (p.Asp766Tyr) single nucleotide variant Likely benign rs2737085 GRCh38 Chromosome 2, 172487779: 172487779
139 ITGA6 NM_000210.3(ITGA6): c.2296G> T (p.Asp766Tyr) single nucleotide variant Likely benign rs2737085 GRCh37 Chromosome 2, 173352507: 173352507
140 ITGA6 NM_000210.3(ITGA6): c.2393C> T (p.Ser798Leu) single nucleotide variant Uncertain significance rs201430068 GRCh38 Chromosome 2, 172488029: 172488029
141 ITGA6 NM_000210.3(ITGA6): c.2393C> T (p.Ser798Leu) single nucleotide variant Uncertain significance rs201430068 GRCh37 Chromosome 2, 173352757: 173352757
142 ITGA6 NM_000210.3(ITGA6): c.2704C> T (p.Arg902Trp) single nucleotide variant Likely benign rs199587983 GRCh38 Chromosome 2, 172491048: 172491048
143 ITGA6 NM_000210.3(ITGA6): c.2704C> T (p.Arg902Trp) single nucleotide variant Likely benign rs199587983 GRCh37 Chromosome 2, 173355776: 173355776
144 ITGA6 NM_000210.3(ITGA6): c.2788G> A (p.Val930Met) single nucleotide variant Likely benign rs10209072 GRCh38 Chromosome 2, 172491230: 172491230
145 ITGA6 NM_000210.3(ITGA6): c.2788G> A (p.Val930Met) single nucleotide variant Likely benign rs10209072 GRCh37 Chromosome 2, 173355958: 173355958
146 ITGA6 NM_000210.3(ITGA6): c.2792A> G (p.Asn931Ser) single nucleotide variant Uncertain significance rs778456920 GRCh38 Chromosome 2, 172491234: 172491234
147 ITGA6 NM_000210.3(ITGA6): c.2792A> G (p.Asn931Ser) single nucleotide variant Uncertain significance rs778456920 GRCh37 Chromosome 2, 173355962: 173355962
148 ITGA6 NM_000210.3(ITGA6): c.2820G> A (p.Pro940=) single nucleotide variant Likely benign rs34599583 GRCh38 Chromosome 2, 172491262: 172491262
149 ITGA6 NM_000210.3(ITGA6): c.2820G> A (p.Pro940=) single nucleotide variant Likely benign rs34599583 GRCh37 Chromosome 2, 173355990: 173355990
150 ITGA6 NM_000210.3(ITGA6): c.2862G> C (p.Ser954=) single nucleotide variant Likely benign rs61757097 GRCh38 Chromosome 2, 172491304: 172491304
151 ITGA6 NM_000210.3(ITGA6): c.2862G> C (p.Ser954=) single nucleotide variant Likely benign rs61757097 GRCh37 Chromosome 2, 173356032: 173356032
152 ITGA6 NM_000210.3(ITGA6): c.3006T> C (p.Phe1002=) single nucleotide variant Uncertain significance rs139596061 GRCh38 Chromosome 2, 172497992: 172497992
153 ITGA6 NM_000210.3(ITGA6): c.3006T> C (p.Phe1002=) single nucleotide variant Uncertain significance rs139596061 GRCh37 Chromosome 2, 173362720: 173362720
154 ITGA6 NM_000210.3(ITGA6): c.3075G> A (p.Gly1025=) single nucleotide variant Uncertain significance rs368851699 GRCh38 Chromosome 2, 172498061: 172498061
155 ITGA6 NM_000210.3(ITGA6): c.3075G> A (p.Gly1025=) single nucleotide variant Uncertain significance rs368851699 GRCh37 Chromosome 2, 173362789: 173362789
156 ITGA6 NM_000210.3(ITGA6): c.3132A> G (p.Arg1044=) single nucleotide variant Uncertain significance rs143159110 GRCh38 Chromosome 2, 172501789: 172501789
157 ITGA6 NM_000210.3(ITGA6): c.3132A> G (p.Arg1044=) single nucleotide variant Uncertain significance rs143159110 GRCh37 Chromosome 2, 173366517: 173366517
158 ITGA6 NM_000210.3(ITGA6): c.*50G> A single nucleotide variant Uncertain significance rs886055130 GRCh38 Chromosome 2, 172504118: 172504118
159 ITGA6 NM_000210.3(ITGA6): c.*50G> A single nucleotide variant Uncertain significance rs886055130 GRCh37 Chromosome 2, 173368846: 173368846
160 ITGA6 NM_000210.3(ITGA6): c.*719T> C single nucleotide variant Uncertain significance rs143976962 GRCh38 Chromosome 2, 172504787: 172504787
161 ITGA6 NM_000210.3(ITGA6): c.*719T> C single nucleotide variant Uncertain significance rs143976962 GRCh37 Chromosome 2, 173369515: 173369515
162 ITGA6 NM_000210.3(ITGA6): c.*919A> G single nucleotide variant Uncertain significance rs139374896 GRCh38 Chromosome 2, 172504987: 172504987
163 ITGA6 NM_000210.3(ITGA6): c.*919A> G single nucleotide variant Uncertain significance rs139374896 GRCh37 Chromosome 2, 173369715: 173369715
164 ITGA6 NM_000210.3(ITGA6): c.*1021_*1024dup duplication Uncertain significance rs886055135 GRCh38 Chromosome 2, 172505089: 172505092
165 ITGA6 NM_000210.3(ITGA6): c.*1021_*1024dup duplication Uncertain significance rs886055135 GRCh37 Chromosome 2, 173369817: 173369820
166 ITGA6 NM_000210.3(ITGA6): c.*1221C> T single nucleotide variant Uncertain significance rs193228906 GRCh38 Chromosome 2, 172505289: 172505289
167 ITGA6 NM_000210.3(ITGA6): c.*1221C> T single nucleotide variant Uncertain significance rs193228906 GRCh37 Chromosome 2, 173370017: 173370017
168 ITGA6 NM_000210.3(ITGA6): c.*1459G> T single nucleotide variant Likely benign rs142884581 GRCh38 Chromosome 2, 172505527: 172505527
169 ITGA6 NM_000210.3(ITGA6): c.*1459G> T single nucleotide variant Likely benign rs142884581 GRCh37 Chromosome 2, 173370255: 173370255
170 ITGA6 NM_000210.3(ITGA6): c.*1660dup duplication Uncertain significance rs532829832 GRCh38 Chromosome 2, 172505728: 172505728
171 ITGA6 NM_000210.3(ITGA6): c.*1660dup duplication Uncertain significance rs532829832 GRCh37 Chromosome 2, 173370456: 173370456
172 ITGA6 NM_000210.3(ITGA6): c.*1935G> A single nucleotide variant Uncertain significance rs886055141 GRCh38 Chromosome 2, 172506003: 172506003
173 ITGA6 NM_000210.3(ITGA6): c.*1935G> A single nucleotide variant Uncertain significance rs886055141 GRCh37 Chromosome 2, 173370731: 173370731
174 ITGA6 NM_000210.3(ITGA6): c.-138G> A single nucleotide variant Likely benign rs144682022 GRCh38 Chromosome 2, 172427651: 172427651
175 ITGA6 NM_000210.3(ITGA6): c.-138G> A single nucleotide variant Likely benign rs144682022 GRCh37 Chromosome 2, 173292379: 173292379
176 ITGA6 NM_000210.3(ITGA6): c.-14C> G single nucleotide variant Uncertain significance rs144341070 GRCh38 Chromosome 2, 172427775: 172427775
177 ITGA6 NM_000210.3(ITGA6): c.-14C> G single nucleotide variant Uncertain significance rs144341070 GRCh37 Chromosome 2, 173292503: 173292503
178 ITGA6 NM_000210.3(ITGA6): c.10G> A (p.Ala4Thr) single nucleotide variant Uncertain significance rs201418157 GRCh38 Chromosome 2, 172427798: 172427798
179 ITGA6 NM_000210.3(ITGA6): c.10G> A (p.Ala4Thr) single nucleotide variant Uncertain significance rs201418157 GRCh37 Chromosome 2, 173292526: 173292526
180 ITGA6 NM_000210.3(ITGA6): c.1427T> G (p.Val476Gly) single nucleotide variant Uncertain significance rs886055128 GRCh37 Chromosome 2, 173344407: 173344407
181 ITGA6 NM_000210.3(ITGA6): c.1427T> G (p.Val476Gly) single nucleotide variant Uncertain significance rs886055128 GRCh38 Chromosome 2, 172479679: 172479679
182 ITGA6 NM_000210.3(ITGA6): c.2082C> T (p.Asp694=) single nucleotide variant Benign rs2293649 GRCh38 Chromosome 2, 172487375: 172487375
183 ITGA6 NM_000210.3(ITGA6): c.2082C> T (p.Asp694=) single nucleotide variant Benign rs2293649 GRCh37 Chromosome 2, 173352103: 173352103
184 ITGA6 NM_000210.3(ITGA6): c.2858G> A (p.Arg953His) single nucleotide variant Uncertain significance rs150695902 GRCh38 Chromosome 2, 172491300: 172491300
185 ITGA6 NM_000210.3(ITGA6): c.2858G> A (p.Arg953His) single nucleotide variant Uncertain significance rs150695902 GRCh37 Chromosome 2, 173356028: 173356028
186 ITGA6 NM_000210.3(ITGA6): c.3222G> A (p.Ter1074=) single nucleotide variant Likely benign rs16860616 GRCh38 Chromosome 2, 172501879: 172501879
187 ITGA6 NM_000210.3(ITGA6): c.3222G> A (p.Ter1074=) single nucleotide variant Likely benign rs16860616 GRCh37 Chromosome 2, 173366607: 173366607
188 ITGA6 NM_000210.3(ITGA6): c.*574C> G single nucleotide variant Uncertain significance rs777604325 GRCh38 Chromosome 2, 172504642: 172504642
189 ITGA6 NM_000210.3(ITGA6): c.*574C> G single nucleotide variant Uncertain significance rs777604325 GRCh37 Chromosome 2, 173369370: 173369370
190 ITGA6 NM_000210.3(ITGA6): c.*751A> G single nucleotide variant Uncertain significance rs2178473 GRCh38 Chromosome 2, 172504819: 172504819
191 ITGA6 NM_000210.3(ITGA6): c.*751A> G single nucleotide variant Uncertain significance rs2178473 GRCh37 Chromosome 2, 173369547: 173369547
192 ITGA6 NM_000210.3(ITGA6): c.*776T> G single nucleotide variant Uncertain significance rs767612998 GRCh38 Chromosome 2, 172504844: 172504844
193 ITGA6 NM_000210.3(ITGA6): c.*776T> G single nucleotide variant Uncertain significance rs767612998 GRCh37 Chromosome 2, 173369572: 173369572
194 ITGA6 NM_000210.3(ITGA6): c.*1108A> G single nucleotide variant Uncertain significance rs886055136 GRCh38 Chromosome 2, 172505176: 172505176
195 ITGA6 NM_000210.3(ITGA6): c.*1108A> G single nucleotide variant Uncertain significance rs886055136 GRCh37 Chromosome 2, 173369904: 173369904
196 ITGA6 NM_000210.3(ITGA6): c.*1656G> T single nucleotide variant Uncertain significance rs886055139 GRCh38 Chromosome 2, 172505724: 172505724
197 ITGA6 NM_000210.3(ITGA6): c.*1656G> T single nucleotide variant Uncertain significance rs886055139 GRCh37 Chromosome 2, 173370452: 173370452
198 ITGA6 NM_000210.3(ITGA6): c.*1809T> C single nucleotide variant Likely benign rs6759915 GRCh38 Chromosome 2, 172505877: 172505877
199 ITGA6 NM_000210.3(ITGA6): c.*1809T> C single nucleotide variant Likely benign rs6759915 GRCh37 Chromosome 2, 173370605: 173370605
200 ITGA6 NM_000210.3(ITGA6): c.*1940dup duplication Likely benign rs150850702 GRCh38 Chromosome 2, 172506008: 172506008
201 ITGA6 NM_000210.3(ITGA6): c.*1940dup duplication Likely benign rs150850702 GRCh37 Chromosome 2, 173370736: 173370736
202 ITGA6 NM_000210.3(ITGA6): c.*2088T> G single nucleotide variant Uncertain significance rs114786166 GRCh38 Chromosome 2, 172506156: 172506156
203 ITGA6 NM_000210.3(ITGA6): c.*2088T> G single nucleotide variant Uncertain significance rs114786166 GRCh37 Chromosome 2, 173370884: 173370884
204 ITGB4 NM_001005731.2(ITGB4): c.-125G> C single nucleotide variant Uncertain significance rs552008042 GRCh38 Chromosome 17, 75721498: 75721498
205 ITGB4 NM_001005731.2(ITGB4): c.-125G> C single nucleotide variant Uncertain significance rs552008042 GRCh37 Chromosome 17, 73717578: 73717578
206 ITGB4 NM_001005731.2(ITGB4): c.-68C> T single nucleotide variant Uncertain significance rs571564589 GRCh38 Chromosome 17, 75721555: 75721555
207 ITGB4 NM_001005731.2(ITGB4): c.-68C> T single nucleotide variant Uncertain significance rs571564589 GRCh37 Chromosome 17, 73717635: 73717635
208 ITGB4 NM_001005731.2(ITGB4): c.-23T> C single nucleotide variant Uncertain significance rs886053407 GRCh38 Chromosome 17, 75721600: 75721600
209 ITGB4 NM_001005731.2(ITGB4): c.-23T> C single nucleotide variant Uncertain significance rs886053407 GRCh37 Chromosome 17, 73717680: 73717680
210 ITGB4 NM_001005731.2(ITGB4): c.1056G> A (p.Ser352=) single nucleotide variant Uncertain significance rs187527294 GRCh38 Chromosome 17, 75730928: 75730928
211 ITGB4 NM_001005731.2(ITGB4): c.1056G> A (p.Ser352=) single nucleotide variant Uncertain significance rs187527294 GRCh37 Chromosome 17, 73727009: 73727009
212 ITGB4 NM_001005731.2(ITGB4): c.1095G> A (p.Arg365=) single nucleotide variant Uncertain significance rs141970956 GRCh38 Chromosome 17, 75731248: 75731248
213 ITGB4 NM_001005731.2(ITGB4): c.1095G> A (p.Arg365=) single nucleotide variant Uncertain significance rs141970956 GRCh37 Chromosome 17, 73727329: 73727329
214 ITGB4 NM_001005731.2(ITGB4): c.1181G> A (p.Arg394Lys) single nucleotide variant Uncertain significance rs144655991 GRCh38 Chromosome 17, 75731334: 75731334
215 ITGB4 NM_001005731.2(ITGB4): c.1181G> A (p.Arg394Lys) single nucleotide variant Uncertain significance rs144655991 GRCh37 Chromosome 17, 73727415: 73727415
216 ITGB4 NM_001005731.2(ITGB4): c.1262C> T (p.Thr421Met) single nucleotide variant Uncertain significance rs148535298 GRCh38 Chromosome 17, 75731858: 75731858
217 ITGB4 NM_001005731.2(ITGB4): c.1262C> T (p.Thr421Met) single nucleotide variant Uncertain significance rs148535298 GRCh37 Chromosome 17, 73727939: 73727939
218 ITGB4 NM_001005731.2(ITGB4): c.1413C> T (p.Asn471=) single nucleotide variant Uncertain significance rs375790655 GRCh38 Chromosome 17, 75732198: 75732198
219 ITGB4 NM_001005731.2(ITGB4): c.1413C> T (p.Asn471=) single nucleotide variant Uncertain significance rs375790655 GRCh37 Chromosome 17, 73728279: 73728279
220 ITGB4 NM_001005731.2(ITGB4): c.1533G> A (p.Pro511=) single nucleotide variant Uncertain significance rs148312483 GRCh38 Chromosome 17, 75733568: 75733568
221 ITGB4 NM_001005731.2(ITGB4): c.1533G> A (p.Pro511=) single nucleotide variant Uncertain significance rs148312483 GRCh37 Chromosome 17, 73729649: 73729649
222 ITGB4 NM_001005731.2(ITGB4): c.1581C> T (p.Gly527=) single nucleotide variant Uncertain significance rs374868983 GRCh38 Chromosome 17, 75733616: 75733616
223 ITGB4 NM_001005731.2(ITGB4): c.1581C> T (p.Gly527=) single nucleotide variant Uncertain significance rs374868983 GRCh37 Chromosome 17, 73729697: 73729697
224 ITGB4 NM_001005731.2(ITGB4): c.1666C> T (p.Arg556Cys) single nucleotide variant Uncertain significance rs150166497 GRCh38 Chromosome 17, 75736059: 75736059
225 ITGB4 NM_001005731.2(ITGB4): c.1666C> T (p.Arg556Cys) single nucleotide variant Uncertain significance rs150166497 GRCh37 Chromosome 17, 73732140: 73732140
226 ITGB4 NM_001005731.2(ITGB4): c.1860+10A> C single nucleotide variant Uncertain significance rs8065184 GRCh38 Chromosome 17, 75736396: 75736396
227 ITGB4 NM_001005731.2(ITGB4): c.1860+10A> C single nucleotide variant Uncertain significance rs8065184 GRCh37 Chromosome 17, 73732477: 73732477
228 ITGB4 NM_001005731.2(ITGB4): c.1945G> A (p.Glu649Lys) single nucleotide variant Uncertain significance rs886053411 GRCh38 Chromosome 17, 75736649: 75736649
229 ITGB4 NM_001005731.2(ITGB4): c.1945G> A (p.Glu649Lys) single nucleotide variant Uncertain significance rs886053411 GRCh37 Chromosome 17, 73732730: 73732730
230 ITGB4 NM_001005731.2(ITGB4): c.1972G> T (p.Val658Leu) single nucleotide variant Uncertain significance rs747235341 GRCh38 Chromosome 17, 75736676: 75736676
231 ITGB4 NM_001005731.2(ITGB4): c.1972G> T (p.Val658Leu) single nucleotide variant Uncertain significance rs747235341 GRCh37 Chromosome 17, 73732757: 73732757
232 ITGB4 NM_001005731.2(ITGB4): c.2009G> A (p.Arg670His) single nucleotide variant Uncertain significance rs149659118 GRCh38 Chromosome 17, 75737340: 75737340
233 ITGB4 NM_001005731.2(ITGB4): c.2009G> A (p.Arg670His) single nucleotide variant Uncertain significance rs149659118 GRCh37 Chromosome 17, 73733421: 73733421
234 ITGB4 NM_001005731.2(ITGB4): c.2025C> T (p.Asp675=) single nucleotide variant Uncertain significance rs202097958 GRCh38 Chromosome 17, 75737356: 75737356
235 ITGB4 NM_001005731.2(ITGB4): c.2025C> T (p.Asp675=) single nucleotide variant Uncertain significance rs202097958 GRCh37 Chromosome 17, 73733437: 73733437
236 ITGB4 NM_001005731.2(ITGB4): c.2422G> A (p.Ala808Thr) single nucleotide variant Uncertain significance rs147480547 GRCh38 Chromosome 17, 75740047: 75740047
237 ITGB4 NM_001005731.2(ITGB4): c.2422G> A (p.Ala808Thr) single nucleotide variant Uncertain significance rs147480547 GRCh37 Chromosome 17, 73736128: 73736128
238 ITGB4 NM_001005731.2(ITGB4): c.2503C> G (p.Pro835Ala) single nucleotide variant Uncertain significance rs183705877 GRCh38 Chromosome 17, 75740414: 75740414
239 ITGB4 NM_001005731.2(ITGB4): c.2503C> G (p.Pro835Ala) single nucleotide variant Uncertain significance rs183705877 GRCh37 Chromosome 17, 73736495: 73736495
240 ITGB4 NM_001005731.2(ITGB4): c.2674C> T (p.Arg892Cys) single nucleotide variant Uncertain significance rs139933962 GRCh38 Chromosome 17, 75742381: 75742381
241 ITGB4 NM_001005731.2(ITGB4): c.2674C> T (p.Arg892Cys) single nucleotide variant Uncertain significance rs139933962 GRCh37 Chromosome 17, 73738462: 73738462
242 ITGB4 NM_001005731.2(ITGB4): c.2782+10C> T single nucleotide variant Uncertain significance rs757546708 GRCh38 Chromosome 17, 75742499: 75742499
243 ITGB4 NM_001005731.2(ITGB4): c.2782+10C> T single nucleotide variant Uncertain significance rs757546708 GRCh37 Chromosome 17, 73738580: 73738580
244 ITGB4 NM_001005731.2(ITGB4): c.2962+14G> A single nucleotide variant Uncertain significance rs369351466 GRCh38 Chromosome 17, 75742775: 75742775
245 ITGB4 NM_001005731.2(ITGB4): c.2962+14G> A single nucleotide variant Uncertain significance rs369351466 GRCh37 Chromosome 17, 73738856: 73738856
246 ITGB4 NM_001005731.2(ITGB4): c.3809T> C (p.Met1270Thr) single nucleotide variant Uncertain significance rs886053413 GRCh38 Chromosome 17, 75752189: 75752189
247 ITGB4 NM_001005731.2(ITGB4): c.3809T> C (p.Met1270Thr) single nucleotide variant Uncertain significance rs886053413 GRCh37 Chromosome 17, 73748270: 73748270
248 ITGB4 NM_001005731.2(ITGB4): c.3861C> T (p.Asn1287=) single nucleotide variant Conflicting interpretations of pathogenicity rs145351926 GRCh38 Chromosome 17, 75752241: 75752241
249 ITGB4 NM_001005731.2(ITGB4): c.3861C> T (p.Asn1287=) single nucleotide variant Conflicting interpretations of pathogenicity rs145351926 GRCh37 Chromosome 17, 73748322: 73748322
250 ITGB4 NM_001005731.2(ITGB4): c.4109-3C> T single nucleotide variant Uncertain significance rs886053415 GRCh38 Chromosome 17, 75754573: 75754573
251 ITGB4 NM_001005731.2(ITGB4): c.4109-3C> T single nucleotide variant Uncertain significance rs886053415 GRCh37 Chromosome 17, 73750654: 73750654
252 ITGB4 NM_001005731.2(ITGB4): c.4231G> A (p.Val1411Met) single nucleotide variant Uncertain significance rs546010811 GRCh38 Chromosome 17, 75754698: 75754698
253 ITGB4 NM_001005731.2(ITGB4): c.4231G> A (p.Val1411Met) single nucleotide variant Uncertain significance rs546010811 GRCh37 Chromosome 17, 73750779: 73750779
254 ITGB4 NM_001005731.2(ITGB4): c.4845G> C (p.Gly1615=) single nucleotide variant Uncertain significance rs148658410 GRCh38 Chromosome 17, 75756944: 75756944
255 ITGB4 NM_001005731.2(ITGB4): c.4845G> C (p.Gly1615=) single nucleotide variant Uncertain significance rs148658410 GRCh37 Chromosome 17, 73753025: 73753025
256 ITGB4 NM_001005731.2(ITGB4): c.4969G> C (p.Glu1657Gln) single nucleotide variant Uncertain significance rs774308604 GRCh38 Chromosome 17, 75757068: 75757068
257 ITGB4 NM_001005731.2(ITGB4): c.4969G> C (p.Glu1657Gln) single nucleotide variant Uncertain significance rs774308604 GRCh37 Chromosome 17, 73753149: 73753149
258 ITGB4 NM_001005731.2(ITGB4): c.5033G> A (p.Arg1678His) single nucleotide variant Uncertain significance rs151053969 GRCh38 Chromosome 17, 75757224: 75757224
259 ITGB4 NM_001005731.2(ITGB4): c.5033G> A (p.Arg1678His) single nucleotide variant Uncertain significance rs151053969 GRCh37 Chromosome 17, 73753305: 73753305
260 ITGB4 NM_001005731.2(ITGB4): c.5198G> A (p.Arg1733Gln) single nucleotide variant Uncertain significance rs80224547 GRCh38 Chromosome 17, 75757494: 75757494
261 ITGB4 NM_001005731.2(ITGB4): c.5198G> A (p.Arg1733Gln) single nucleotide variant Uncertain significance rs80224547 GRCh37 Chromosome 17, 73753575: 73753575
262 ITGB4 NM_001005731.2(ITGB4): c.*45C> T single nucleotide variant Uncertain significance rs200901360 GRCh38 Chromosome 17, 75757600: 75757600
263 ITGB4 NM_001005731.2(ITGB4): c.*45C> T single nucleotide variant Uncertain significance rs200901360 GRCh37 Chromosome 17, 73753681: 73753681
264 ITGB4 NM_001005731.2(ITGB4): c.513T> C (p.Phe171=) single nucleotide variant Likely benign rs148048907 GRCh38 Chromosome 17, 75728420: 75728420
265 ITGB4 NM_001005731.2(ITGB4): c.513T> C (p.Phe171=) single nucleotide variant Likely benign rs148048907 GRCh37 Chromosome 17, 73724501: 73724501
266 ITGB4 NM_001005731.2(ITGB4): c.708C> T (p.Phe236=) single nucleotide variant Uncertain significance rs146923910 GRCh38 Chromosome 17, 75729406: 75729406
267 ITGB4 NM_001005731.2(ITGB4): c.708C> T (p.Phe236=) single nucleotide variant Uncertain significance rs146923910 GRCh37 Chromosome 17, 73725487: 73725487
268 ITGB4 NM_001005731.2(ITGB4): c.1210G> A (p.Glu404Lys) single nucleotide variant Uncertain significance rs886053409 GRCh38 Chromosome 17, 75731363: 75731363
269 ITGB4 NM_001005731.2(ITGB4): c.1210G> A (p.Glu404Lys) single nucleotide variant Uncertain significance rs886053409 GRCh37 Chromosome 17, 73727444: 73727444
270 ITGB4 NM_001005731.2(ITGB4): c.1560C> T (p.Cys520=) single nucleotide variant Uncertain significance rs538635871 GRCh38 Chromosome 17, 75733595: 75733595
271 ITGB4 NM_001005731.2(ITGB4): c.1560C> T (p.Cys520=) single nucleotide variant Uncertain significance rs538635871 GRCh37 Chromosome 17, 73729676: 73729676
272 ITGB4 NM_001005731.2(ITGB4): c.1593C> T (p.Tyr531=) single nucleotide variant Uncertain significance rs778102219 GRCh38 Chromosome 17, 75733628: 75733628
273 ITGB4 NM_001005731.2(ITGB4): c.1593C> T (p.Tyr531=) single nucleotide variant Uncertain significance rs778102219 GRCh37 Chromosome 17, 73729709: 73729709
274 ITGB4 NM_001005731.2(ITGB4): c.1667G> A (p.Arg556His) single nucleotide variant Uncertain significance rs142562582 GRCh38 Chromosome 17, 75736060: 75736060
275 ITGB4 NM_001005731.2(ITGB4): c.1667G> A (p.Arg556His) single nucleotide variant Uncertain significance rs142562582 GRCh37 Chromosome 17, 73732141: 73732141
276 ITGB4 NM_001005731.2(ITGB4): c.3230G> T (p.Arg1077Leu) single nucleotide variant Uncertain significance rs201487753 GRCh38 Chromosome 17, 75748959: 75748959
277 ITGB4 NM_001005731.2(ITGB4): c.3230G> T (p.Arg1077Leu) single nucleotide variant Uncertain significance rs201487753 GRCh37 Chromosome 17, 73745040: 73745040
278 ITGB4 NM_001005731.2(ITGB4): c.3317A> G (p.Asp1106Gly) single nucleotide variant Uncertain significance rs370112615 GRCh38 Chromosome 17, 75750111: 75750111
279 ITGB4 NM_001005731.2(ITGB4): c.3317A> G (p.Asp1106Gly) single nucleotide variant Uncertain significance rs370112615 GRCh37 Chromosome 17, 73746192: 73746192
280 ITGB4 NM_001005731.2(ITGB4): c.3338C> T (p.Thr1113Met) single nucleotide variant Uncertain significance rs775373022 GRCh38 Chromosome 17, 75750132: 75750132
281 ITGB4 NM_001005731.2(ITGB4): c.3338C> T (p.Thr1113Met) single nucleotide variant Uncertain significance rs775373022 GRCh37 Chromosome 17, 73746213: 73746213
282 ITGB4 NM_001005731.2(ITGB4): c.3598G> A (p.Gly1200Arg) single nucleotide variant Uncertain significance rs75129664 GRCh38 Chromosome 17, 75750803: 75750803
283 ITGB4 NM_001005731.2(ITGB4): c.3598G> A (p.Gly1200Arg) single nucleotide variant Uncertain significance rs75129664 GRCh37 Chromosome 17, 73746884: 73746884
284 ITGB4 NM_001005731.2(ITGB4): c.3858G> A (p.Glu1286=) single nucleotide variant Uncertain significance rs372222796 GRCh38 Chromosome 17, 75752238: 75752238
285 ITGB4 NM_001005731.2(ITGB4): c.3858G> A (p.Glu1286=) single nucleotide variant Uncertain significance rs372222796 GRCh37 Chromosome 17, 73748319: 73748319
286 ITGB4 NM_001005731.2(ITGB4): c.4101T> A (p.Asp1367Glu) single nucleotide variant Uncertain significance rs886053414 GRCh38 Chromosome 17, 75752570: 75752570
287 ITGB4 NM_001005731.2(ITGB4): c.4101T> A (p.Asp1367Glu) single nucleotide variant Uncertain significance rs886053414 GRCh37 Chromosome 17, 73748651: 73748651
288 ITGB4 NM_001005731.2(ITGB4): c.4349-4C> G single nucleotide variant Uncertain significance rs199620842 GRCh38 Chromosome 17, 75755697: 75755697
289 ITGB4 NM_001005731.2(ITGB4): c.4349-4C> G single nucleotide variant Uncertain significance rs199620842 GRCh37 Chromosome 17, 73751778: 73751778
290 ITGB4 NM_001005731.2(ITGB4): c.4379C> T (p.Thr1460Met) single nucleotide variant Uncertain significance rs140575355 GRCh38 Chromosome 17, 75755731: 75755731
291 ITGB4 NM_001005731.2(ITGB4): c.4379C> T (p.Thr1460Met) single nucleotide variant Uncertain significance rs140575355 GRCh37 Chromosome 17, 73751812: 73751812
292 ITGB4 NM_001005731.2(ITGB4): c.4497C> T (p.Gly1499=) single nucleotide variant Uncertain significance rs138928712 GRCh38 Chromosome 17, 75755849: 75755849
293 ITGB4 NM_001005731.2(ITGB4): c.4497C> T (p.Gly1499=) single nucleotide variant Uncertain significance rs138928712 GRCh37 Chromosome 17, 73751930: 73751930
294 ITGB4 NM_001005731.2(ITGB4): c.4499-3del deletion Likely benign rs56408237 GRCh38 Chromosome 17, 75756426: 75756426
295 ITGB4 NM_001005731.2(ITGB4): c.4499-3del deletion Likely benign rs56408237 GRCh37 Chromosome 17, 73752507: 73752507
296 ITGB4 NM_001005731.2(ITGB4): c.4882G> A (p.Glu1628Lys) single nucleotide variant Uncertain significance rs776496019 GRCh38 Chromosome 17, 75756981: 75756981
297 ITGB4 NM_001005731.2(ITGB4): c.4882G> A (p.Glu1628Lys) single nucleotide variant Uncertain significance rs776496019 GRCh37 Chromosome 17, 73753062: 73753062
298 ITGB4 NM_001005731.2(ITGB4): c.4917C> T (p.Asn1639=) single nucleotide variant Uncertain significance rs376733146 GRCh38 Chromosome 17, 75757016: 75757016
299 ITGB4 NM_001005731.2(ITGB4): c.4917C> T (p.Asn1639=) single nucleotide variant Uncertain significance rs376733146 GRCh37 Chromosome 17, 73753097: 73753097
300 ITGB4 NM_001005731.2(ITGB4): c.5019G> A (p.Pro1673=) single nucleotide variant Uncertain significance rs140140182 GRCh38 Chromosome 17, 75757210: 75757210
301 ITGB4 NM_001005731.2(ITGB4): c.5019G> A (p.Pro1673=) single nucleotide variant Uncertain significance rs140140182 GRCh37 Chromosome 17, 73753291: 73753291
302 ITGB4 NM_001005731.2(ITGB4): c.282C> T (p.Thr94=) single nucleotide variant Uncertain significance rs146609350 GRCh38 Chromosome 17, 75727668: 75727668
303 ITGB4 NM_001005731.2(ITGB4): c.282C> T (p.Thr94=) single nucleotide variant Uncertain significance rs146609350 GRCh37 Chromosome 17, 73723749: 73723749
304 ITGB4 NM_001005731.2(ITGB4): c.738+3G> A single nucleotide variant Uncertain significance rs374647847 GRCh38 Chromosome 17, 75729439: 75729439
305 ITGB4 NM_001005731.2(ITGB4): c.738+3G> A single nucleotide variant Uncertain significance rs374647847 GRCh37 Chromosome 17, 73725520: 73725520
306 ITGB4 NM_001005731.2(ITGB4): c.1002+12A> G single nucleotide variant Uncertain significance rs374003966 GRCh38 Chromosome 17, 75730516: 75730516
307 ITGB4 NM_001005731.2(ITGB4): c.1002+12A> G single nucleotide variant Uncertain significance rs374003966 GRCh37 Chromosome 17, 73726597: 73726597
308 ITGB4 NM_001005731.2(ITGB4): c.1179G> A (p.Thr393=) single nucleotide variant Uncertain significance rs772335175 GRCh38 Chromosome 17, 75731332: 75731332
309 ITGB4 NM_001005731.2(ITGB4): c.1179G> A (p.Thr393=) single nucleotide variant Uncertain significance rs772335175 GRCh37 Chromosome 17, 73727413: 73727413
310 ITGB4 NM_001005731.2(ITGB4): c.1201C> T (p.Arg401Trp) single nucleotide variant Uncertain significance rs200122430 GRCh38 Chromosome 17, 75731354: 75731354
311 ITGB4 NM_001005731.2(ITGB4): c.1201C> T (p.Arg401Trp) single nucleotide variant Uncertain significance rs200122430 GRCh37 Chromosome 17, 73727435: 73727435
312 ITGB4 NM_001005731.2(ITGB4): c.1377+7C> T single nucleotide variant Uncertain significance rs200004156 GRCh38 Chromosome 17, 75731980: 75731980
313 ITGB4 NM_001005731.2(ITGB4): c.1377+7C> T single nucleotide variant Uncertain significance rs200004156 GRCh37 Chromosome 17, 73728061: 73728061
314 ITGB4 NM_001005731.2(ITGB4): c.1377+15C> T single nucleotide variant Likely benign rs78048168 GRCh38 Chromosome 17, 75731988: 75731988
315 ITGB4 NM_001005731.2(ITGB4): c.1377+15C> T single nucleotide variant Likely benign rs78048168 GRCh37 Chromosome 17, 73728069: 73728069
316 ITGB4 NM_001005731.2(ITGB4): c.1749C> T (p.Ile583=) single nucleotide variant Uncertain significance rs144302042 GRCh38 Chromosome 17, 75736142: 75736142
317 ITGB4 NM_001005731.2(ITGB4): c.1749C> T (p.Ile583=) single nucleotide variant Uncertain significance rs144302042 GRCh37 Chromosome 17, 73732223: 73732223
318 ITGB4 NM_001005731.2(ITGB4): c.1821G> A (p.Ser607=) single nucleotide variant Benign rs2290460 GRCh38 Chromosome 17, 75736347: 75736347
319 ITGB4 NM_001005731.2(ITGB4): c.1821G> A (p.Ser607=) single nucleotide variant Benign rs2290460 GRCh37 Chromosome 17, 73732428: 73732428
320 ITGB4 NM_001005731.2(ITGB4): c.1893C> G (p.Ser631=) single nucleotide variant Uncertain significance rs61735295 GRCh38 Chromosome 17, 75736597: 75736597
321 ITGB4 NM_001005731.2(ITGB4): c.1893C> G (p.Ser631=) single nucleotide variant Uncertain significance rs61735295 GRCh37 Chromosome 17, 73732678: 73732678
322 ITGB4 NM_001005731.2(ITGB4): c.2123C> T (p.Pro708Leu) single nucleotide variant Uncertain significance rs146500584 GRCh38 Chromosome 17, 75737547: 75737547
323 ITGB4 NM_001005731.2(ITGB4): c.2123C> T (p.Pro708Leu) single nucleotide variant Uncertain significance rs146500584 GRCh37 Chromosome 17, 73733628: 73733628
324 ITGB4 NM_001005731.2(ITGB4): c.2625C> T (p.Ala875=) single nucleotide variant Uncertain significance rs561694657 GRCh38 Chromosome 17, 75740997: 75740997
325 ITGB4 NM_001005731.2(ITGB4): c.2625C> T (p.Ala875=) single nucleotide variant Uncertain significance rs561694657 GRCh37 Chromosome 17, 73737078: 73737078
326 ITGB4 NM_001005731.2(ITGB4): c.2634-8C> T single nucleotide variant Uncertain significance rs749527800 GRCh38 Chromosome 17, 75742333: 75742333
327 ITGB4 NM_001005731.2(ITGB4): c.2634-8C> T single nucleotide variant Uncertain significance rs749527800 GRCh37 Chromosome 17, 73738414: 73738414
328 ITGB4 NM_001005731.2(ITGB4): c.2886G> A (p.Val962=) single nucleotide variant Uncertain significance rs886053412 GRCh38 Chromosome 17, 75742685: 75742685
329 ITGB4 NM_001005731.2(ITGB4): c.2886G> A (p.Val962=) single nucleotide variant Uncertain significance rs886053412 GRCh37 Chromosome 17, 73738766: 73738766
330 ITGB4 NM_001005731.2(ITGB4): c.3624C> T (p.Ser1208=) single nucleotide variant Uncertain significance rs145928221 GRCh38 Chromosome 17, 75750829: 75750829
331 ITGB4 NM_001005731.2(ITGB4): c.3624C> T (p.Ser1208=) single nucleotide variant Uncertain significance rs145928221 GRCh37 Chromosome 17, 73746910: 73746910
332 ITGB4 NM_001005731.2(ITGB4): c.3655+10C> T single nucleotide variant Uncertain significance rs767096926 GRCh38 Chromosome 17, 75750870: 75750870
333 ITGB4 NM_001005731.2(ITGB4): c.3655+10C> T single nucleotide variant Uncertain significance rs767096926 GRCh37 Chromosome 17, 73746951: 73746951
334 ITGB4 NM_001005731.2(ITGB4): c.3729G> A (p.Pro1243=) single nucleotide variant Likely benign rs61735289 GRCh38 Chromosome 17, 75751047: 75751047
335 ITGB4 NM_001005731.2(ITGB4): c.3729G> A (p.Pro1243=) single nucleotide variant Likely benign rs61735289 GRCh37 Chromosome 17, 73747128: 73747128
336 ITGB4 NM_001005731.2(ITGB4): c.3976+15G> C single nucleotide variant Likely benign rs2603499 GRCh38 Chromosome 17, 75752371: 75752371
337 ITGB4 NM_001005731.2(ITGB4): c.3976+15G> C single nucleotide variant Likely benign rs2603499 GRCh37 Chromosome 17, 73748452: 73748452
338 ITGB4 NM_001005731.2(ITGB4): c.4234C> T (p.Leu1412=) single nucleotide variant Uncertain significance rs756626295 GRCh38 Chromosome 17, 75754701: 75754701
339 ITGB4 NM_001005731.2(ITGB4): c.4234C> T (p.Leu1412=) single nucleotide variant Uncertain significance rs756626295 GRCh37 Chromosome 17, 73750782: 73750782
340 ITGB4 NM_001005731.2(ITGB4): c.4299G> A (p.Ser1433=) single nucleotide variant Uncertain significance rs3191773 GRCh38 Chromosome 17, 75754766: 75754766
341 ITGB4 NM_001005731.2(ITGB4): c.4299G> A (p.Ser1433=) single nucleotide variant Uncertain significance rs3191773 GRCh37 Chromosome 17, 73750847: 73750847
342 ITGB4 NM_001005731.2(ITGB4): c.4388G> A (p.Arg1463His) single nucleotide variant Uncertain significance rs751357499 GRCh38 Chromosome 17, 75755740: 75755740
343 ITGB4 NM_001005731.2(ITGB4): c.4388G> A (p.Arg1463His) single nucleotide variant Uncertain significance rs751357499 GRCh37 Chromosome 17, 73751821: 73751821
344 ITGB4 NM_001005731.2(ITGB4): c.4453C> T (p.Arg1485Trp) single nucleotide variant Uncertain significance rs150277911 GRCh38 Chromosome 17, 75755805: 75755805
345 ITGB4 NM_001005731.2(ITGB4): c.4453C> T (p.Arg1485Trp) single nucleotide variant Uncertain significance rs150277911 GRCh37 Chromosome 17, 73751886: 73751886
346 ITGB4 NM_001005731.2(ITGB4): c.4585C> T (p.Arg1529Cys) single nucleotide variant Uncertain significance rs373902577 GRCh38 Chromosome 17, 75756515: 75756515
347 ITGB4 NM_001005731.2(ITGB4): c.4585C> T (p.Arg1529Cys) single nucleotide variant Uncertain significance rs373902577 GRCh37 Chromosome 17, 73752596: 73752596
348 ITGB4 NM_001005731.2(ITGB4): c.4619G> A (p.Arg1540Gln) single nucleotide variant Uncertain significance rs886053417 GRCh38 Chromosome 17, 75756549: 75756549
349 ITGB4 NM_001005731.2(ITGB4): c.4619G> A (p.Arg1540Gln) single nucleotide variant Uncertain significance rs886053417 GRCh37 Chromosome 17, 73752630: 73752630
350 ITGB4 NM_001005731.2(ITGB4): c.4692C> G (p.Ser1564=) single nucleotide variant Likely benign rs57812564 GRCh38 Chromosome 17, 75756708: 75756708
351 ITGB4 NM_001005731.2(ITGB4): c.4692C> G (p.Ser1564=) single nucleotide variant Likely benign rs57812564 GRCh37 Chromosome 17, 73752789: 73752789
352 ITGB4 NM_001005731.2(ITGB4): c.4727C> T (p.Pro1576Leu) single nucleotide variant Uncertain significance rs563796869 GRCh38 Chromosome 17, 75756743: 75756743
353 ITGB4 NM_001005731.2(ITGB4): c.4727C> T (p.Pro1576Leu) single nucleotide variant Uncertain significance rs563796869 GRCh37 Chromosome 17, 73752824: 73752824
354 ITGB4 NM_001005731.2(ITGB4): c.4803C> T (p.Ile1601=) single nucleotide variant Uncertain significance rs372195997 GRCh38 Chromosome 17, 75756819: 75756819
355 ITGB4 NM_001005731.2(ITGB4): c.4803C> T (p.Ile1601=) single nucleotide variant Uncertain significance rs372195997 GRCh37 Chromosome 17, 73752900: 73752900
356 ITGB4 NM_001005731.2(ITGB4): c.4843+10A> G single nucleotide variant Uncertain significance rs886053418 GRCh38 Chromosome 17, 75756869: 75756869
357 ITGB4 NM_001005731.2(ITGB4): c.4843+10A> G single nucleotide variant Uncertain significance rs886053418 GRCh37 Chromosome 17, 73752950: 73752950
358 GALK1; ITGB4 NM_001005731.2(ITGB4): c.*4C> T single nucleotide variant Likely benign rs189610725 GRCh38 Chromosome 17, 75757559: 75757559
359 GALK1; ITGB4 NM_001005731.2(ITGB4): c.*4C> T single nucleotide variant Likely benign rs189610725 GRCh37 Chromosome 17, 73753640: 73753640
360 GALK1; ITGB4 NM_000213.4(ITGB4): c.*25C> T single nucleotide variant Benign rs9367 GRCh38 Chromosome 17, 75757580: 75757580
361 GALK1; ITGB4 NM_000213.4(ITGB4): c.*25C> T single nucleotide variant Benign rs9367 GRCh37 Chromosome 17, 73753661: 73753661
362 ITGB4 NM_001005731.2(ITGB4): c.*58G> A single nucleotide variant Uncertain significance rs569617597 GRCh38 Chromosome 17, 75757613: 75757613
363 ITGB4 NM_001005731.2(ITGB4): c.*58G> A single nucleotide variant Uncertain significance rs569617597 GRCh37 Chromosome 17, 73753694: 73753694
364 ITGB4 NM_001005731.2(ITGB4): c.210G> A (p.Ala70=) single nucleotide variant Uncertain significance rs200500313 GRCh38 Chromosome 17, 75727451: 75727451
365 ITGB4 NM_001005731.2(ITGB4): c.210G> A (p.Ala70=) single nucleotide variant Uncertain significance rs200500313 GRCh37 Chromosome 17, 73723532: 73723532
366 ITGB4 NM_001005731.2(ITGB4): c.702C> T (p.Gly234=) single nucleotide variant Likely benign rs61751843 GRCh38 Chromosome 17, 75729400: 75729400
367 ITGB4 NM_001005731.2(ITGB4): c.702C> T (p.Gly234=) single nucleotide variant Likely benign rs61751843 GRCh37 Chromosome 17, 73725481: 73725481
368 ITGB4 NM_001005731.2(ITGB4): c.1032A> G (p.Ser344=) single nucleotide variant Uncertain significance rs145591069 GRCh38 Chromosome 17, 75730904: 75730904
369 ITGB4 NM_001005731.2(ITGB4): c.1032A> G (p.Ser344=) single nucleotide variant Uncertain significance rs145591069 GRCh37 Chromosome 17, 73726985: 73726985
370 ITGB4 NM_001005731.2(ITGB4): c.1093C> T (p.Arg365Trp) single nucleotide variant Uncertain significance rs886053408 GRCh38 Chromosome 17, 75731246: 75731246
371 ITGB4 NM_001005731.2(ITGB4): c.1093C> T (p.Arg365Trp) single nucleotide variant Uncertain significance rs886053408 GRCh37 Chromosome 17, 73727327: 73727327
372 ITGB4 NM_001005731.2(ITGB4): c.1136G> A (p.Arg379Gln) single nucleotide variant Uncertain significance rs367872059 GRCh38 Chromosome 17, 75731289: 75731289
373 ITGB4 NM_001005731.2(ITGB4): c.1136G> A (p.Arg379Gln) single nucleotide variant Uncertain significance rs367872059 GRCh37 Chromosome 17, 73727370: 73727370
374 ITGB4 NM_001005731.2(ITGB4): c.1434G> T (p.Gln478His) single nucleotide variant Uncertain significance rs8079267 GRCh38 Chromosome 17, 75732219: 75732219
375 ITGB4 NM_001005731.2(ITGB4): c.1434G> T (p.Gln478His) single nucleotide variant Uncertain significance rs8079267 GRCh37 Chromosome 17, 73728300: 73728300
376 ITGB4 NM_001005731.2(ITGB4): c.1539C> T (p.Ser513=) single nucleotide variant Uncertain significance rs886053410 GRCh38 Chromosome 17, 75733574: 75733574
377 ITGB4 NM_001005731.2(ITGB4): c.1539C> T (p.Ser513=) single nucleotide variant Uncertain significance rs886053410 GRCh37 Chromosome 17, 73729655: 73729655
378 ITGB4 NM_001005731.2(ITGB4): c.1805A> T (p.His602Leu) single nucleotide variant Uncertain significance rs201103623 GRCh38 Chromosome 17, 75736331: 75736331
379 ITGB4 NM_001005731.2(ITGB4): c.1805A> T (p.His602Leu) single nucleotide variant Uncertain significance rs201103623 GRCh37 Chromosome 17, 73732412: 73732412
380 ITGB4 NM_001005731.2(ITGB4): c.1968G> T (p.Lys656Asn) single nucleotide variant Uncertain significance rs377703595 GRCh38 Chromosome 17, 75736672: 75736672
381 ITGB4 NM_001005731.2(ITGB4): c.1968G> T (p.Lys656Asn) single nucleotide variant Uncertain significance rs377703595 GRCh37 Chromosome 17, 73732753: 73732753
382 ITGB4 NM_001005731.2(ITGB4): c.2108A> G (p.Lys703Arg) single nucleotide variant Uncertain significance rs56119997 GRCh38 Chromosome 17, 75737439: 75737439
383 ITGB4 NM_001005731.2(ITGB4): c.2108A> G (p.Lys703Arg) single nucleotide variant Uncertain significance rs56119997 GRCh37 Chromosome 17, 73733520: 73733520
384 ITGB4 NM_001005731.2(ITGB4): c.2207G> T (p.Cys736Phe) single nucleotide variant Likely benign rs143203816 GRCh38 Chromosome 17, 75737631: 75737631
385 ITGB4 NM_001005731.2(ITGB4): c.2207G> T (p.Cys736Phe) single nucleotide variant Likely benign rs143203816 GRCh37 Chromosome 17, 73733712: 73733712
386 ITGB4 NM_001005731.2(ITGB4): c.2730C> T (p.Ala910=) single nucleotide variant Uncertain significance rs61735292 GRCh38 Chromosome 17, 75742437: 75742437
387 ITGB4 NM_001005731.2(ITGB4): c.2730C> T (p.Ala910=) single nucleotide variant Uncertain significance rs61735292 GRCh37 Chromosome 17, 73738518: 73738518
388 ITGB4 NM_001005731.2(ITGB4): c.2784C> T (p.Asp928=) single nucleotide variant Uncertain significance rs201900480 GRCh38 Chromosome 17, 75742583: 75742583
389 ITGB4 NM_001005731.2(ITGB4): c.2784C> T (p.Asp928=) single nucleotide variant Uncertain significance rs201900480 GRCh37 Chromosome 17, 73738664: 73738664
390 ITGB4 NM_001005731.2(ITGB4): c.2833C> T (p.Arg945Trp) single nucleotide variant Uncertain significance rs150668075 GRCh38 Chromosome 17, 75742632: 75742632
391 ITGB4 NM_001005731.2(ITGB4): c.2833C> T (p.Arg945Trp) single nucleotide variant Uncertain significance rs150668075 GRCh37 Chromosome 17, 73738713: 73738713
392 ITGB4 NM_001005731.2(ITGB4): c.2929C> T (p.Arg977Cys) single nucleotide variant Uncertain significance rs145976111 GRCh38 Chromosome 17, 75742728: 75742728
393 ITGB4 NM_001005731.2(ITGB4): c.2929C> T (p.Arg977Cys) single nucleotide variant Uncertain significance rs145976111 GRCh37 Chromosome 17, 73738809: 73738809
394 ITGB4 NM_001005731.2(ITGB4): c.3057C> T (p.Gly1019=) single nucleotide variant Uncertain significance rs139146525 GRCh38 Chromosome 17, 75743807: 75743807
395 ITGB4 NM_001005731.2(ITGB4): c.3057C> T (p.Gly1019=) single nucleotide variant Uncertain significance rs139146525 GRCh37 Chromosome 17, 73739888: 73739888
396 ITGB4 NM_001005731.2(ITGB4): c.3215G> A (p.Arg1072Gln) single nucleotide variant Uncertain significance rs750423295 GRCh38 Chromosome 17, 75748944: 75748944
397 ITGB4 NM_001005731.2(ITGB4): c.3215G> A (p.Arg1072Gln) single nucleotide variant Uncertain significance rs750423295 GRCh37 Chromosome 17, 73745025: 73745025
398 ITGB4 NM_001005731.2(ITGB4): c.3232C> G (p.Arg1078Gly) single nucleotide variant Uncertain significance rs564989714 GRCh38 Chromosome 17, 75748961: 75748961
399 ITGB4 NM_001005731.2(ITGB4): c.3232C> G (p.Arg1078Gly) single nucleotide variant Uncertain significance rs564989714 GRCh37 Chromosome 17, 73745042: 73745042
400 ITGB4 NM_001005731.2(ITGB4): c.4008C> T (p.Asp1336=) single nucleotide variant Conflicting interpretations of pathogenicity rs61735288 GRCh38 Chromosome 17, 75752477: 75752477
401 ITGB4 NM_001005731.2(ITGB4): c.4008C> T (p.Asp1336=) single nucleotide variant Conflicting interpretations of pathogenicity rs61735288 GRCh37 Chromosome 17, 73748558: 73748558
402 ITGB4 NM_001005731.2(ITGB4): c.4109-7C> G single nucleotide variant Uncertain significance rs376011638 GRCh38 Chromosome 17, 75754569: 75754569
403 ITGB4 NM_001005731.2(ITGB4): c.4109-7C> G single nucleotide variant Uncertain significance rs376011638 GRCh37 Chromosome 17, 73750650: 73750650
404 ITGB4 NM_001005731.2(ITGB4): c.4843+14C> T single nucleotide variant Uncertain significance rs78884789 GRCh38 Chromosome 17, 75756873: 75756873
405 ITGB4 NM_001005731.2(ITGB4): c.4843+14C> T single nucleotide variant Uncertain significance rs78884789 GRCh37 Chromosome 17, 73752954: 73752954
406 GALK1; ITGB4 NM_001005731.2(ITGB4): c.4844-15A> G single nucleotide variant Benign rs8078247 GRCh37 Chromosome 17, 73753009: 73753009
407 GALK1; ITGB4 NM_001005731.2(ITGB4): c.4844-15A> G single nucleotide variant Benign rs8078247 GRCh38 Chromosome 17, 75756928: 75756928
408 ITGB4 NM_001005731.2(ITGB4): c.4862G> A (p.Arg1621Gln) single nucleotide variant Uncertain significance rs376139144 GRCh38 Chromosome 17, 75756961: 75756961
409 ITGB4 NM_001005731.2(ITGB4): c.4862G> A (p.Arg1621Gln) single nucleotide variant Uncertain significance rs376139144 GRCh37 Chromosome 17, 73753042: 73753042
410 ITGB4 NM_001005731.2(ITGB4): c.5009-15A> G single nucleotide variant Uncertain significance rs142184100 GRCh38 Chromosome 17, 75757185: 75757185
411 ITGB4 NM_001005731.2(ITGB4): c.5009-15A> G single nucleotide variant Uncertain significance rs142184100 GRCh37 Chromosome 17, 73753266: 73753266
412 ITGB4 NM_000213.4(ITGB4): c.2986C> T (p.Gln996Ter) single nucleotide variant Likely pathogenic rs772142634 GRCh37 Chromosome 17, 73739817: 73739817
413 ITGB4 NM_000213.4(ITGB4): c.2986C> T (p.Gln996Ter) single nucleotide variant Likely pathogenic rs772142634 GRCh38 Chromosome 17, 75743736: 75743736
414 PLEC NM_000445.4(PLEC): c.13328C> T (p.Thr4443Met) single nucleotide variant Uncertain significance rs201855218 GRCh37 Chromosome 8, 144990742: 144990742
415 PLEC NM_000445.4(PLEC): c.13328C> T (p.Thr4443Met) single nucleotide variant Uncertain significance rs201855218 GRCh38 Chromosome 8, 143916574: 143916574
416 PLEC NM_000445.4(PLEC): c.1519C> T (p.Arg507Cys) single nucleotide variant Uncertain significance rs202172091 GRCh37 Chromosome 8, 145007260: 145007260
417 PLEC NM_000445.4(PLEC): c.1519C> T (p.Arg507Cys) single nucleotide variant Uncertain significance rs202172091 GRCh38 Chromosome 8, 143933092: 143933092
418 PLEC NM_000445.4(PLEC): c.8711C> T (p.Thr2904Met) single nucleotide variant Uncertain significance rs201565643 GRCh38 Chromosome 8, 143921191: 143921191
419 PLEC NM_000445.4(PLEC): c.8711C> T (p.Thr2904Met) single nucleotide variant Uncertain significance rs201565643 GRCh37 Chromosome 8, 144995359: 144995359
420 PLEC NM_000445.4(PLEC): c.4454G> T (p.Arg1485Leu) single nucleotide variant Uncertain significance rs782720526 GRCh38 Chromosome 8, 143925556: 143925556
421 PLEC NM_000445.4(PLEC): c.4454G> T (p.Arg1485Leu) single nucleotide variant Uncertain significance rs782720526 GRCh37 Chromosome 8, 144999724: 144999724
422 PLEC NM_000445.4(PLEC): c.4580G> A (p.Arg1527Gln) single nucleotide variant Uncertain significance rs782344020 GRCh38 Chromosome 8, 143925430: 143925430
423 PLEC NM_000445.4(PLEC): c.4580G> A (p.Arg1527Gln) single nucleotide variant Uncertain significance rs782344020 GRCh37 Chromosome 8, 144999598: 144999598
424 PLEC NM_201378.3(PLEC): c.9364G> A (p.Ala3122Thr) single nucleotide variant Uncertain significance rs200680102 GRCh38 Chromosome 8, 143920415: 143920415
425 PLEC NM_201378.3(PLEC): c.9364G> A (p.Ala3122Thr) single nucleotide variant Uncertain significance rs200680102 GRCh37 Chromosome 8, 144994583: 144994583
426 ITGA6 NM_000210.2: c.3167delA deletion Pathogenic GRCh38 Chromosome 2, 172501824: 172501824
427 ITGA6 NM_000210.2: c.3167delA deletion Pathogenic GRCh37 Chromosome 2, 173366552: 173366552

Expression for Epidermolysis Bullosa Junctionalis with Pyloric Atresia

Search GEO for disease gene expression data for Epidermolysis Bullosa Junctionalis with Pyloric Atresia.

Pathways for Epidermolysis Bullosa Junctionalis with Pyloric Atresia

Pathways related to Epidermolysis Bullosa Junctionalis with Pyloric Atresia according to GeneCards Suite gene sharing:

(showing 41, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.74 CDKN1B COL17A1 FN1 ITGA6 ITGB2 ITGB4
2
Show member pathways
13.3 COL17A1 FN1 ITGA6 ITGB2 ITGB4 LAMA3
3
Show member pathways
12.91 COL17A1 FN1 ITGA6 ITGB2 ITGB4 LAMA3
4
Show member pathways
12.86 CDKN1B FN1 ITGA6 ITGB4 LAMA3 LAMC2
5 12.76 CDKN1B FN1 ITGA6 LAMA3 LAMC2
6
Show member pathways
12.72 ITGA6 ITGB2 ITGB4 LAMA3 LAMC2
7
Show member pathways
12.72 CDKN1B ITGA6 ITGB2 ITGB4 SHC1
8
Show member pathways
12.67 COL17A1 DST ITGA6 ITGB4 LAMA3 LAMC2
9
Show member pathways
12.52 CDKN1B FN1 ITGA6 ITGB2 ITGB4 LAMA3
10 12.51 FN1 ITGA6 ITGB2 ITGB4
11
Show member pathways
12.42 COL17A1 DST ITGA6 ITGB4 LAMA3 LAMC2
12
Show member pathways
12.35 ITGA6 ITGB4 LAMA3 LAMC2 SHC1
13
Show member pathways
12.34 CDKN1B ITGA6 ITGB2 ITGB4
14
Show member pathways
12.16 ITGA6 ITGB2 LAMA3 LAMC2
15
Show member pathways
12.13 CDKN1B ITGA6 ITGB2 ITGB4
16
Show member pathways
12.13 FN1 ITGA6 ITGB2 SHC1
17
Show member pathways
12.1 COL17A1 FN1 ITGA6 ITGB2 ITGB4 LAMA3
18 12.04 CDKN1B ITGA6 ITGB2 ITGB4
19 11.96 FN1 ITGB4 SHC1
20
Show member pathways
11.93 FN1 ITGB2 LAMA3
21 11.93 ITGA6 ITGB2 ITGB4 PLEC
22
Show member pathways
11.93 COL17A1 DST FN1 ITGA6 ITGB2 ITGB4
23 11.85 ITGA6 ITGB2 ITGB4
24 11.81 FN1 ITGB2 LAMA3 LAMC2
25 11.74 FN1 ITGA6 ITGB2 ITGB4
26 11.69 CDKN1B FN1 ITGA6 LAMA3 LAMC2
27 11.64 CDKN1B FN1 SHC1
28
Show member pathways
11.62 FN1 ITGA6 ITGB2 ITGB4 LAMA3 LAMC2
29 11.57 FN1 LAMA3 LAMC2
30 11.57 CDKN1B ITGA6 ITGB4
31 11.53 ITGA6 ITGB2 ITGB4
32 11.4 ITGA6 ITGB2 ITGB4
33 11.39 FN1 ITGB2 SHC1
34 11.34 FN1 ITGA6 ITGB4
35 11.2 FN1 LAMC2
36 11.2 FN1 LAMA3
37 11.17 FN1 LAMA3
38 11.16 COL17A1 ITGA6 ITGB4 SHC1
40 10.93 FN1 LAMA3
41 10.88 COL17A1 FN1 ITGA6 ITGB2 ITGB4 LAMA3

GO Terms for Epidermolysis Bullosa Junctionalis with Pyloric Atresia

Cellular components related to Epidermolysis Bullosa Junctionalis with Pyloric Atresia according to GeneCards Suite gene sharing:

(showing 6, show less)
# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.77 ACHE COL17A1 DST ITGB4 PLEC
2 focal adhesion GO:0005925 9.65 DST ITGA6 ITGB2 ITGB4 PLEC
3 collagen-containing extracellular matrix GO:0062023 9.62 COL17A1 FN1 LAMA3 LAMC2
4 basement membrane GO:0005604 9.5 ACHE COL17A1 DST FN1 ITGA6 LAMA3
5 integrin complex GO:0008305 9.33 ITGA6 ITGB2 ITGB4
6 hemidesmosome GO:0030056 9.02 COL17A1 DST ITGA6 ITGB4 PLEC

Biological processes related to Epidermolysis Bullosa Junctionalis with Pyloric Atresia according to GeneCards Suite gene sharing:

(showing 18, show less)
# Name GO ID Score Top Affiliating Genes
1 leukocyte migration GO:0050900 9.76 FN1 ITGA6 ITGB2 SHC1
2 cell adhesion GO:0007155 9.76 ACHE DST FN1 ITGA6 ITGB2 ITGB4
3 cell-cell adhesion GO:0098609 9.72 ITGA6 ITGB2 SHC1
4 epidermis development GO:0008544 9.7 COL17A1 LAMA3 LAMC2
5 wound healing GO:0042060 9.69 DST FN1 PLEC
6 integrin-mediated signaling pathway GO:0007229 9.67 DST ITGA6 ITGB2 ITGB4
7 cell-matrix adhesion GO:0007160 9.65 COL17A1 FN1 ITGA6 ITGB2 ITGB4
8 response to wounding GO:0009611 9.62 ACHE DST FN1 ITGB4
9 cell motility GO:0048870 9.58 DST ITGB4
10 endodermal cell differentiation GO:0035987 9.58 FN1 ITGB2 LAMA3
11 intermediate filament cytoskeleton organization GO:0045104 9.57 DST PLEC
12 renal system development GO:0072001 9.56 ITGA6 ITGB4
13 cell adhesion mediated by integrin GO:0033627 9.54 ITGB2 ITGB4
14 extracellular matrix organization GO:0030198 9.5 COL17A1 FN1 ITGA6 ITGB2 ITGB4 LAMA3
15 amelogenesis GO:0097186 9.49 ITGA6 ITGB4
16 nail development GO:0035878 9.48 ITGA6 ITGB4
17 cell-substrate junction assembly GO:0007044 9.43 FN1 ITGA6
18 hemidesmosome assembly GO:0031581 9.17 COL17A1 DST ITGA6 ITGB4 LAMA3 LAMC2

Molecular functions related to Epidermolysis Bullosa Junctionalis with Pyloric Atresia according to GeneCards Suite gene sharing:

(showing 5, show less)
# Name GO ID Score Top Affiliating Genes
1 laminin binding GO:0043236 9.32 ACHE ITGA6
2 insulin-like growth factor I binding GO:0031994 9.26 ITGA6 ITGB4
3 integrin binding GO:0005178 9.26 DST FN1 ITGB2 ITGB4
4 neuregulin binding GO:0038132 9.16 ITGA6 ITGB4
5 extracellular matrix structural constituent GO:0005201 8.92 COL17A1 FN1 LAMA3 LAMC2

Sources for Epidermolysis Bullosa Junctionalis with Pyloric Atresia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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