EDSARTH1
MCID: EHL075
MIFTS: 36

Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 (EDSARTH1)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Ehlers-Danlos Syndrome, Arthrochalasia Type, 1

MalaCards integrated aliases for Ehlers-Danlos Syndrome, Arthrochalasia Type, 1:

Name: Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 56 73
Arthrochalasis Multiplex Congenita 56 73
Ehlers-Danlos Syndrome, Type 7a 29 6
Edsarth1 56 73
Eds Viia 56 73
Eds7a 56 73
Ehlers-Danlos Syndrome, Type Viia, Autosomal Dominant; Eds7a 56
Ehlers-Danlos Syndrome, Type Viia, Autosomal Dominant 56
Ehlers-Danlos Syndrome Type Viia, Autosomal Dominant 73
Ehlers-Danlos Syndrome, Arthrochalasia Type 71
Ehlers-Danlos Syndrome Arthrochalasic Type 73
Ehlers-Danlos Syndrome, Type Viia 13
Eds Vii, Mutant Procollagen Type 56
Eds Vii Mutant Procollagen Type 73
Ehlers-Danlos Syndrome 7a 73
Eds Viib 71

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
ehlers-danlos syndrome, arthrochalasia type, 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Ehlers-Danlos Syndrome, Arthrochalasia Type, 1

UniProtKB/Swiss-Prot : 73 Ehlers-Danlos syndrome, arthrochalasia type, 1: A form of Ehlers-Danlos syndrome, a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDSARTH1 is an autosomal dominant form characterized by frequent congenital hip dislocation and extreme joint laxity with recurrent joint subluxations and minimal skin involvement.

MalaCards based summary : Ehlers-Danlos Syndrome, Arthrochalasia Type, 1, also known as arthrochalasis multiplex congenita, is related to obsolete: ehlers-danlos syndrome type 7a and beukes hip dysplasia. An important gene associated with Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 is COL1A1 (Collagen Type I Alpha 1 Chain), and among its related pathways/superpathways is Binding and Uptake of Ligands by Scavenger Receptors. Affiliated tissues include skin, and related phenotypes are malar flattening and osteopenia

OMIM : 56 Arthrochalasia-type EDS is distinguished from other types of EDS by the frequency of congenital hip dislocation and extreme joint laxity with recurrent joint subluxations and minimal skin involvement (Byers et al., 1997; Giunta et al., 2008). (130060)

Related Diseases for Ehlers-Danlos Syndrome, Arthrochalasia Type, 1

Graphical network of the top 20 diseases related to Ehlers-Danlos Syndrome, Arthrochalasia Type, 1:



Diseases related to Ehlers-Danlos Syndrome, Arthrochalasia Type, 1

Symptoms & Phenotypes for Ehlers-Danlos Syndrome, Arthrochalasia Type, 1

Human phenotypes related to Ehlers-Danlos Syndrome, Arthrochalasia Type, 1:

31 (showing 20, show less)
# Description HPO Frequency HPO Source Accession
1 malar flattening 31 HP:0000272
2 osteopenia 31 HP:0000938
3 muscular hypotonia 31 HP:0001252
4 scoliosis 31 HP:0002650
5 kyphosis 31 HP:0002808
6 delayed gross motor development 31 HP:0002194
7 midface retrusion 31 HP:0011800
8 generalized hypotonia 31 HP:0001290
9 joint laxity 31 HP:0001388
10 bruising susceptibility 31 HP:0000978
11 hyperextensible skin 31 HP:0000974
12 breech presentation 31 HP:0001623
13 increased susceptibility to fractures 31 HP:0002659
14 poor wound healing 31 HP:0001058
15 mild short stature 31 HP:0003502
16 atrophic scars 31 HP:0001075
17 soft skin 31 HP:0000977
18 congenital bilateral hip dislocation 31 HP:0008780
19 premature osteoarthritis 31 HP:0003088
20 joint subluxation 31 HP:0032153

Symptoms via clinical synopsis from OMIM:

56
Skeletal:
osteopenia
premature osteoarthritis
joint laxity, severe
recurrent joint subluxation
fractures

Neurologic Central Nervous System:
delayed gross motor development
hypotonia

Prenatal Manifestations Delivery:
breech presentation

Head And Neck Face:
midface hypoplasia

Skeletal Spine:
scoliosis
kyphosis

Skin Nails Hair Skin:
hyperextensible skin
poor wound healing
atrophic scars
easy bruisability
thin, velvety skin

Skeletal Pelvis:
congenital bilateral hip dislocation

Growth Height:
short stature, mild to moderate

Clinical features from OMIM:

130060

Drugs & Therapeutics for Ehlers-Danlos Syndrome, Arthrochalasia Type, 1

Search Clinical Trials , NIH Clinical Center for Ehlers-Danlos Syndrome, Arthrochalasia Type, 1

Genetic Tests for Ehlers-Danlos Syndrome, Arthrochalasia Type, 1

Genetic tests related to Ehlers-Danlos Syndrome, Arthrochalasia Type, 1:

# Genetic test Affiliating Genes
1 Ehlers-Danlos Syndrome, Type 7a 29

Anatomical Context for Ehlers-Danlos Syndrome, Arthrochalasia Type, 1

MalaCards organs/tissues related to Ehlers-Danlos Syndrome, Arthrochalasia Type, 1:

40
Skin

Publications for Ehlers-Danlos Syndrome, Arthrochalasia Type, 1

Articles related to Ehlers-Danlos Syndrome, Arthrochalasia Type, 1:

(showing 16, show less)
# Title Authors PMID Year
1
The arthrochalasia type of Ehlers-Danlos syndrome (EDS VIIA and VIIB): the diagnostic value of collagen fibril ultrastructure. 61 56 6
18409203 2008
2
Characterization of a COL1A1 splicing defect in a case of Ehlers-Danlos syndrome type VII: further evidence of molecular homogeneity. 6 56
1867198 1991
3
A base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal polypeptide in a patient with Ehlers-Danlos syndrome type VII. 56 6
2767050 1989
4
Deletion of 24 amino acids from the pro-alpha 1(I) chain of type I procollagen in a patient with the Ehlers-Danlos syndrome type VII. 56 6
3082886 1986
5
Human pro alpha 1(I) collagen gene structure reveals evolutionary conservation of a pattern of introns and exons. 6 56
6462220 1984
6
Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen. 56
9295084 1997
7
Albumin Hawkes Bay; a low level variant caused by loss of a sulphydryl group at position 177. 6
8347685 1993
8
Evidence for a relationship between Ehlers-Danlos type VII C in humans and bovine dermatosparaxis. 56
1303238 1992
9
Point substitutions in albumin genetic variants from Asia. 6
2404284 1990
10
Processing of types I and III procollagen in Ehlers-Danlos syndrome type VII. 56
3019133 1986
11
Molecular pathology in inherited disorders of collagen metabolism. 56
7042525 1982
12
Arthrochalasis multiplex congenita; congenital flaccidity of the joints. 56
13539092 1958
13
Ehlers Danlos Syndrome: An Unusual Presentation You Need to Know about. 61
23762718 2013
14
Molecular mechanism of alpha 1(I)-osteogenesis imperfecta/Ehlers-Danlos syndrome: unfolding of an N-anchor domain at the N-terminal end of the type I collagen triple helix. 61
16407265 2006
15
[Ehlers-Danlos syndromes. Clinical, genetic and molecular aspects]. 61
8526413 1995
16
The Ehlers-Danlos syndromes. 61
8217561 1993

Variations for Ehlers-Danlos Syndrome, Arthrochalasia Type, 1

ClinVar genetic disease variations for Ehlers-Danlos Syndrome, Arthrochalasia Type, 1:

6 (showing 446, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL1A1 NM_000088.3(COL1A1):c.543G>A (p.Met181Ile)SNV Pathogenic 17311 rs72667022 17:48275794-48275794 17:50198433-50198433
2 COL1A1 NM_000088.3(COL1A1):c.994G>A (p.Gly332Arg)SNV Pathogenic 17312 rs72645357 17:48273524-48273524 17:50196163-50196163
3 COL1A1 NM_000088.3(COL1A1):c.472-1G>ASNV Pathogenic 17339 17:48275866-48275866 17:50198505-50198505
4 COL1A1 NM_000088.3(COL1A1):c.3040C>T (p.Arg1014Cys)SNV Pathogenic 17347 rs72653170 17:48266269-48266269 17:50188908-50188908
5 COL1A1 NM_000088.3(COL1A1):c.472-2A>TSNV Pathogenic 17350 17:48275867-48275867 17:50198506-50198506
6 ALB NM_000477.5(ALB):c.71G>A (p.Arg24Gln)SNV Pathogenic 18185 rs74821926 4:74270115-74270115 4:73404398-73404398
7 COL1A1 NM_000088.3(COL1A1):c.2089C>T (p.Arg697Ter)SNV Pathogenic 287320 rs72651642 17:48269187-48269187 17:50191826-50191826
8 COL1A1 NM_000088.3(COL1A1):c.1821+1G>ASNV Pathogenic 425580 rs66555264 17:48270354-48270354 17:50192993-50192993
9 COL1A1 NM_000088.3(COL1A1):c.1299+1G>ASNV Pathogenic 425599 rs66490707 17:48272592-48272592 17:50195231-50195231
10 COL1A1 NM_000088.3(COL1A1):c.1243C>T (p.Arg415Ter)SNV Pathogenic 425597 rs72648326 17:48272649-48272649 17:50195288-50195288
11 COL1A1 NM_000088.3(COL1A1):c.2362G>A (p.Gly788Ser)SNV Pathogenic 447141 rs67879854 17:48267939-48267939 17:50190578-50190578
12 COL1A1 NM_000088.3(COL1A1):c.985G>C (p.Gly329Arg)SNV Pathogenic/Likely pathogenic 450546 rs1555574303 17:48273533-48273533 17:50196172-50196172
13 COL1A1 NM_000088.3(COL1A1):c.334-5C>ASNV Conflicting interpretations of pathogenicity 324119 rs115997082 17:48276819-48276819 17:50199458-50199458
14 COL1A1 NM_000088.3(COL1A1):c.3815-12G>TSNV Conflicting interpretations of pathogenicity 324098 rs201066018 17:48263880-48263880 17:50186519-50186519
15 COL1A1 NM_000088.3(COL1A1):c.3169G>A (p.Val1057Ile)SNV Conflicting interpretations of pathogenicity 324103 rs575285203 17:48265929-48265929 17:50188568-50188568
16 COL1A1 NM_000088.3(COL1A1):c.627C>T (p.Gly209=)SNV Conflicting interpretations of pathogenicity 324117 rs201136122 17:48275325-48275325 17:50197964-50197964
17 COL1A1 NM_000088.3(COL1A1):c.528C>T (p.Ser176=)SNV Conflicting interpretations of pathogenicity 324118 rs748856187 17:48275809-48275809 17:50198448-50198448
18 COL1A1 NM_000088.3(COL1A1):c.*243_*244dupduplication Conflicting interpretations of pathogenicity 324088 rs56302025 17:48262619-48262620 17:50185258-50185259
19 COL1A1 NM_000088.3(COL1A1):c.1233C>T (p.Phe411=)SNV Conflicting interpretations of pathogenicity 324113 rs776387246 17:48272659-48272659 17:50195298-50195298
20 COL1A1 NM_000088.3(COL1A1):c.3424-6C>ASNV Conflicting interpretations of pathogenicity 324101 rs370865189 17:48264489-48264489 17:50187128-50187128
21 COL1A1 NM_000088.3(COL1A1):c.1002+10G>TSNV Conflicting interpretations of pathogenicity 324114 rs368316440 17:48273506-48273506 17:50196145-50196145
22 COL1A1 NM_000088.3(COL1A1):c.1983+9G>TSNV Conflicting interpretations of pathogenicity 324109 rs201091992 17:48269827-48269827 17:50192466-50192466
23 COL1A2 NM_000089.3(COL1A2):c.3313G>A (p.Gly1105Ser)SNV Conflicting interpretations of pathogenicity 360968 rs139851311 7:94056984-94056984 7:94427672-94427672
24 COL1A2 NM_000089.3(COL1A2):c.3632T>C (p.Ile1211Thr)SNV Conflicting interpretations of pathogenicity 360970 rs201746779 7:94057710-94057710 7:94428398-94428398
25 COL5A1 NM_001278074.1(COL5A1):c.2331+15C>TSNV Conflicting interpretations of pathogenicity 365716 rs369093559 9:137664695-137664695 9:134772849-134772849
26 COL5A1 NM_001278074.1(COL5A1):c.37C>T (p.Leu13Phe)SNV Conflicting interpretations of pathogenicity 365704 rs762625123 9:137534070-137534070 9:134642224-134642224
27 COL5A1 NM_001278074.1(COL5A1):c.3231A>G (p.Glu1077=)SNV Conflicting interpretations of pathogenicity 365719 rs376248130 9:137697033-137697033 9:134805187-134805187
28 COL1A1 NM_000088.3(COL1A1):c.3099+7T>CSNV Conflicting interpretations of pathogenicity 324105 rs201682029 17:48266096-48266096 17:50188735-50188735
29 COL5A2 NM_000393.5(COL5A2):c.961-3deldeletion Conflicting interpretations of pathogenicity 285912 rs542134887 2:189943836-189943836 2:189079110-189079110
30 COL1A1 NM_000088.3(COL1A1):c.4179C>T (p.Ser1393=)SNV Conflicting interpretations of pathogenicity 281778 rs1800219 17:48263208-48263208 17:50185847-50185847
31 COL5A1 NM_001278074.1(COL5A1):c.3345G>A (p.Pro1115=)SNV Conflicting interpretations of pathogenicity 212899 rs764683617 9:137698121-137698121 9:134806275-134806275
32 COL5A1 NM_001278074.1(COL5A1):c.3983C>G (p.Pro1328Arg)SNV Conflicting interpretations of pathogenicity 212969 rs140797509 9:137706719-137706719 9:134814873-134814873
33 COL5A1 NM_001278074.1(COL5A1):c.5370+11C>TSNV Conflicting interpretations of pathogenicity 212912 rs764644830 9:137727061-137727061 9:134835215-134835215
34 COL5A1 NM_001278074.1(COL5A1):c.2493C>T (p.Ile831=)SNV Conflicting interpretations of pathogenicity 255063 rs199630108 9:137676843-137676843 9:134784997-134784997
35 COL5A1 NM_001278074.1(COL5A1):c.1350C>T (p.Gly450=)SNV Conflicting interpretations of pathogenicity 212929 rs576332528 9:137623934-137623934 9:134732088-134732088
36 COL5A1 NM_001278074.1(COL5A1):c.2096C>T (p.Thr699Met)SNV Conflicting interpretations of pathogenicity 213040 rs142313124 9:137658307-137658307 9:134766461-134766461
37 COL5A2 NM_000393.5(COL5A2):c.3201+14C>TSNV Conflicting interpretations of pathogenicity 255999 rs368713290 2:189912921-189912921 2:189048195-189048195
38 COL5A2 NM_000393.5(COL5A2):c.403-3T>CSNV Conflicting interpretations of pathogenicity 256003 rs369733690 2:189962059-189962059 2:189097333-189097333
39 COL5A2 NM_000393.5(COL5A2):c.322+8T>CSNV Conflicting interpretations of pathogenicity 136965 rs372227642 2:189974943-189974943 2:189110217-189110217
40 COL5A2 NM_000393.5(COL5A2):c.3471+8A>TSNV Conflicting interpretations of pathogenicity 155778 rs367643805 2:189907869-189907869 2:189043143-189043143
41 COL1A1 NM_000088.3(COL1A1):c.1873G>A (p.Ala625Thr)SNV Conflicting interpretations of pathogenicity 196007 rs149561221 17:48270160-48270160 17:50192799-50192799
42 COL5A1 NM_001278074.1(COL5A1):c.3069C>T (p.Pro1023=)SNV Conflicting interpretations of pathogenicity 197054 rs139070070 9:137694796-137694796 9:134802950-134802950
43 COL5A1 NM_001278074.1(COL5A1):c.1383C>T (p.Ile461=)SNV Conflicting interpretations of pathogenicity 198991 rs61736827 9:137623967-137623967 9:134732121-134732121
44 COL5A2 NM_000393.5(COL5A2):c.4173C>G (p.Arg1391=)SNV Conflicting interpretations of pathogenicity 213084 rs148590409 2:189899822-189899822 2:189035096-189035096
45 COL5A2 NM_000393.5(COL5A2):c.4067A>G (p.Asp1356Gly)SNV Conflicting interpretations of pathogenicity 213125 rs140952583 2:189901388-189901388 2:189036662-189036662
46 COL5A2 NM_000393.5(COL5A2):c.3316C>T (p.Arg1106Trp)SNV Conflicting interpretations of pathogenicity 213156 rs146789395 2:189909952-189909952 2:189045226-189045226
47 COL5A2 NM_000393.5(COL5A2):c.2291C>G (p.Pro764Arg)SNV Conflicting interpretations of pathogenicity 213106 rs150260969 2:189922092-189922092 2:189057366-189057366
48 COL5A2 NM_000393.5(COL5A2):c.75A>G (p.Lys25=)SNV Conflicting interpretations of pathogenicity 213090 rs549894501 2:190044256-190044256 2:189179530-189179530
49 COL5A1 NM_001278074.1(COL5A1):c.126C>T (p.Leu42=)SNV Conflicting interpretations of pathogenicity 212915 rs149369116 9:137582774-137582774 9:134690928-134690928
50 COL5A1 NM_001278074.1(COL5A1):c.804C>T (p.Gly268=)SNV Conflicting interpretations of pathogenicity 212921 rs147729713 9:137620533-137620533 9:134728687-134728687
51 COL5A1 NM_001278074.1(COL5A1):c.924+13C>TSNV Conflicting interpretations of pathogenicity 212922 rs199836060 9:137620666-137620666 9:134728820-134728820
52 COL5A1 NM_001278074.1(COL5A1):c.3591C>T (p.Asp1197=)SNV Conflicting interpretations of pathogenicity 136880 rs370349155 9:137703346-137703346 9:134811500-134811500
53 COL1A1 NM_000088.3(COL1A1):c.2595C>T (p.Arg865=)SNV Conflicting interpretations of pathogenicity 35915 rs117672175 17:48267238-48267238 17:50189877-50189877
54 COL5A1 NM_001278074.1(COL5A1):c.787-15G>ASNV Conflicting interpretations of pathogenicity 136924 rs150200872 9:137620501-137620501 9:134728655-134728655
55 COL5A1 NM_001278074.1(COL5A1):c.924+14G>ASNV Conflicting interpretations of pathogenicity 136925 rs200595318 9:137620667-137620667 9:134728821-134728821
56 COL5A1 NM_001278074.1(COL5A1):c.1224G>C (p.Thr408=)SNV Conflicting interpretations of pathogenicity 136928 rs139406076 9:137623401-137623401 9:134731555-134731555
57 COL5A2 NM_000393.5(COL5A2):c.4392T>C (p.Tyr1464=)SNV Conflicting interpretations of pathogenicity 136958 rs142544320 2:189898904-189898904 2:189034178-189034178
58 COL5A2 NM_000393.5(COL5A2):c.906+10A>TSNV Conflicting interpretations of pathogenicity 333146 rs776578452 2:189945706-189945706 2:189080980-189080980
59 COL5A2 NM_000393.5(COL5A2):c.2544C>T (p.Ala848=)SNV Conflicting interpretations of pathogenicity 333140 rs370774253 2:189918159-189918159 2:189053433-189053433
60 COL5A2 NM_000393.5(COL5A2):c.2423C>T (p.Pro808Leu)SNV Conflicting interpretations of pathogenicity 333143 rs575864379 2:189918907-189918907 2:189054181-189054181
61 COL5A2 NM_000393.5(COL5A2):c.1923+8T>CSNV Conflicting interpretations of pathogenicity 333144 rs191193125 2:189927728-189927728 2:189063002-189063002
62 COL1A2 NM_000089.3(COL1A2):c.2025+9A>GSNV Conflicting interpretations of pathogenicity 360960 rs368837694 7:94047873-94047873 7:94418561-94418561
63 COL1A2 NM_000089.3(COL1A2):c.2168A>G (p.Asn723Ser)SNV Conflicting interpretations of pathogenicity 360961 rs189374343 7:94049737-94049737 7:94420425-94420425
64 COL1A2 NM_000089.3(COL1A2):c.2566-6A>GSNV Conflicting interpretations of pathogenicity 360964 rs141088934 7:94053642-94053642 7:94424330-94424330
65 COL1A2 NM_000089.3(COL1A2):c.81+8A>CSNV Conflicting interpretations of pathogenicity 360943 rs765118884 7:94027078-94027078 7:94397766-94397766
66 COL5A1 NM_001278074.1(COL5A1):c.3564C>T (p.Ile1188=)SNV Conflicting interpretations of pathogenicity 365720 rs766961124 9:137703220-137703220 9:134811374-134811374
67 COL5A1 NM_001278074.1(COL5A1):c.3897C>T (p.Gly1299=)SNV Conflicting interpretations of pathogenicity 365723 rs745918663 9:137705873-137705873 9:134814027-134814027
68 COL5A1 NM_001278074.1(COL5A1):c.850G>A (p.Glu284Lys)SNV Conflicting interpretations of pathogenicity 365709 rs75648697 9:137620579-137620579 9:134728733-134728733
69 COL5A1 NM_001278074.1(COL5A1):c.1734C>T (p.Ser578=)SNV Conflicting interpretations of pathogenicity 365712 rs148094039 9:137645710-137645710 9:134753864-134753864
70 COL5A1 NM_001278074.1(COL5A1):c.2182G>A (p.Ala728Thr)SNV Conflicting interpretations of pathogenicity 365715 rs575535171 9:137658894-137658894 9:134767048-134767048
71 COL5A1 NM_001278074.1(COL5A1):c.3573A>G (p.Pro1191=)SNV Conflicting interpretations of pathogenicity 365721 rs564398230 9:137703229-137703229 9:134811383-134811383
72 COL5A1 NM_001278074.1(COL5A1):c.4791T>C (p.Asn1597=)SNV Conflicting interpretations of pathogenicity 365730 rs886063677 9:137716538-137716538 9:134824692-134824692
73 COL5A1 NM_001278074.1(COL5A1):c.5439G>T (p.Val1813=)SNV Conflicting interpretations of pathogenicity 365736 rs886063678 9:137734071-137734071 9:134842225-134842225
74 COL1A2 NM_000089.3(COL1A2):c.1036-12A>GSNV Conflicting interpretations of pathogenicity 360951 rs41316929 7:94039542-94039542 7:94410230-94410230
75 COL1A2 NM_000089.3(COL1A2):c.1866T>C (p.Gly622=)SNV Conflicting interpretations of pathogenicity 360956 rs765470622 7:94047038-94047038 7:94417726-94417726
76 COL1A2 NM_000089.3(COL1A2):c.-87C>TSNV Uncertain significance 360941 rs886062513 7:94024257-94024257 7:94394945-94394945
77 COL1A2 NM_000089.3(COL1A2):c.1971+5G>ASNV Uncertain significance 360959 rs375027186 7:94047148-94047148 7:94417836-94417836
78 COL1A2 NM_000089.3(COL1A2):c.2563G>A (p.Ala855Thr)SNV Uncertain significance 360963 rs541473356 7:94052428-94052428 7:94423116-94423116
79 COL1A2 NM_000089.3(COL1A2):c.2569C>T (p.Pro857Ser)SNV Uncertain significance 360965 rs150179964 7:94053651-94053651 7:94424339-94424339
80 COL5A1 NM_001278074.1(COL5A1):c.*1734G>ASNV Uncertain significance 365777 rs886063688 9:137735883-137735883 9:134844037-134844037
81 COL5A1 NM_001278074.1(COL5A1):c.*1845A>GSNV Uncertain significance 365782 rs553877631 9:137735994-137735994 9:134844148-134844148
82 COL5A1 NM_001278074.1(COL5A1):c.*2410C>GSNV Uncertain significance 365792 rs886063694 9:137736559-137736559 9:134844713-134844713
83 COL1A2 NM_000089.3(COL1A2):c.-365A>GSNV Uncertain significance 360938 rs886062511 7:94023979-94023979 7:94394667-94394667
84 COL1A2 NM_000089.3(COL1A2):c.-188C>TSNV Uncertain significance 360940 rs886062512 7:94024156-94024156 7:94394844-94394844
85 COL1A2 NM_000089.3(COL1A2):c.693+12C>ASNV Uncertain significance 360947 rs767990110 7:94037560-94037560 7:94408248-94408248
86 COL5A1 NM_001278074.1(COL5A1):c.739G>A (p.Ala247Thr)SNV Uncertain significance 365707 rs769115550 9:137619196-137619196 9:134727350-134727350
87 COL5A1 NM_001278074.1(COL5A1):c.1332+4dupduplication Uncertain significance 365711 rs886063674 9:137623513-137623513 9:134731667-134731667
88 COL5A1 NM_001278074.1(COL5A1):c.*173C>TSNV Uncertain significance 365743 rs886063680 9:137734322-137734322 9:134842476-134842476
89 COL5A1 NM_001278074.1(COL5A1):c.*700G>CSNV Uncertain significance 365757 rs750272409 9:137734849-137734849 9:134843003-134843003
90 COL5A1 NM_001278074.1(COL5A1):c.*1047_*1049dupduplication Uncertain significance 365767 rs886063686 9:137735196-137735198 9:134843350-134843352
91 COL5A1 NM_001278074.1(COL5A1):c.3627C>T (p.Phe1209=)SNV Uncertain significance 365722 rs748000980 9:137703382-137703382 9:134811536-134811536
92 COL5A1 NM_001278074.1(COL5A1):c.-287G>CSNV Uncertain significance 365699 rs886063670 9:137533747-137533747 9:134641901-134641901
93 COL5A1 NM_001278074.1(COL5A1):c.-276_-274AGG[7]short repeat Uncertain significance 365700 rs886063671 9:137533773-137533775 9:134641927-134641929
94 COL5A1 NM_001278074.1(COL5A1):c.3939G>T (p.Glu1313Asp)SNV Uncertain significance 365725 rs886063676 9:137706675-137706675 9:134814829-134814829
95 COL1A2 NM_000089.3(COL1A2):c.475G>A (p.Val159Ile)SNV Uncertain significance 360946 rs886062514 7:94034553-94034553 7:94405241-94405241
96 COL1A2 NM_000089.3(COL1A2):c.1036-14G>TSNV Uncertain significance 360950 rs114322680 7:94039540-94039540 7:94410228-94410228
97 COL1A2 NM_000089.3(COL1A2):c.1051G>A (p.Ala351Thr)SNV Uncertain significance 360952 rs755610740 7:94039569-94039569 7:94410257-94410257
98 COL1A2 NM_000089.3(COL1A2):c.1186C>T (p.Pro396Ser)SNV Uncertain significance 360953 rs886062515 7:94039828-94039828 7:94410516-94410516
99 COL1A2 NM_000089.3(COL1A2):c.1252-6deldeletion Uncertain significance 360954 rs886062516 7:94040362-94040362 7:94411050-94411050
100 COL1A2 NM_000089.3(COL1A2):c.1870C>G (p.Pro624Ala)SNV Uncertain significance 360957 rs886062517 7:94047042-94047042 7:94417730-94417730
101 COL1A2 NM_000089.3(COL1A2):c.3754A>G (p.Thr1252Ala)SNV Uncertain significance 360972 rs761465504 7:94058542-94058542 7:94429230-94429230
102 COL1A2 NM_000089.3(COL1A2):c.3883T>C (p.Ser1295Pro)SNV Uncertain significance 360975 rs757449082 7:94058671-94058671 7:94429359-94429359
103 COL5A1 NM_001278074.1(COL5A1):c.-357G>TSNV Uncertain significance 365698 rs886063669 9:137533677-137533677 9:134641831-134641831
104 COL5A1 NM_001278074.1(COL5A1):c.-139G>TSNV Uncertain significance 365702 rs886063672 9:137533895-137533895 9:134642049-134642049
105 COL5A1 NM_001278074.1(COL5A1):c.365A>G (p.Glu122Gly)SNV Uncertain significance 365705 rs886063673 9:137591842-137591842 9:134699996-134699996
106 COL5A1 NM_001278074.1(COL5A1):c.787-9C>TSNV Uncertain significance 365708 rs751472921 9:137620507-137620507 9:134728661-134728661
107 COL5A1 NM_001278074.1(COL5A1):c.1830T>C (p.Gly610=)SNV Uncertain significance 365713 rs886063675 9:137648613-137648613 9:134756767-134756767
108 COL5A1 NM_001278074.1(COL5A1):c.4955-13C>TSNV Uncertain significance 365732 rs770897242 9:137717625-137717625 9:134825779-134825779
109 COL5A1 NM_001278074.1(COL5A1):c.5263G>A (p.Ala1755Thr)SNV Uncertain significance 365733 rs776748227 9:137726943-137726943 9:134835097-134835097
110 COL5A1 NM_001278074.1(COL5A1):c.*42C>GSNV Uncertain significance 365737 rs374547961 9:137734191-137734191 9:134842345-134842345
111 COL5A1 NM_001278074.1(COL5A1):c.*865dupduplication Uncertain significance 365761 rs57599653 9:137735014-137735014 9:134843168-134843168
112 COL5A1 NM_001278074.1(COL5A1):c.*866_*867insTAGinsertion Uncertain significance 365762 rs886063684 9:137735015-137735016 9:134843169-134843170
113 COL5A1 NM_001278074.1(COL5A1):c.*867_*868insATAGGinsertion Uncertain significance 365763 rs1554727637 9:137735016-137735017 9:134843170-134843171
114 COL5A1 NM_001278074.1(COL5A1):c.*589G>ASNV Uncertain significance 365752 rs886063682 9:137734738-137734738 9:134842892-134842892
115 COL5A1 NM_001278074.1(COL5A1):c.*1787G>ASNV Uncertain significance 365778 rs886063689 9:137735936-137735936 9:134844090-134844090
116 COL5A1 NM_001278074.1(COL5A1):c.*1788G>ASNV Uncertain significance 365779 rs886063690 9:137735937-137735937 9:134844091-134844091
117 COL5A1 NM_001278074.1(COL5A1):c.*1849_*1852ACAA[3]short repeat Uncertain significance 365783 rs886063691 9:137736002-137736005 9:134844156-134844159
118 COL1A2 NM_000089.3(COL1A2):c.3014G>A (p.Arg1005His)SNV Uncertain significance 360966 rs200357942 7:94055751-94055751 7:94426439-94426439
119 COL1A2 NM_000089.3(COL1A2):c.3211C>A (p.Pro1071Thr)SNV Uncertain significance 360967 rs886062518 7:94056551-94056551 7:94427239-94427239
120 COL1A2 NM_000089.3(COL1A2):c.892-13C>GSNV Uncertain significance 360949 rs200532328 7:94038863-94038863 7:94409551-94409551
121 COL1A2 NM_000089.3(COL1A2):c.1564C>T (p.Pro522Ser)SNV Uncertain significance 360955 rs199732595 7:94043008-94043008 7:94413696-94413696
122 COL5A2 NM_000393.5(COL5A2):c.1350A>G (p.Gly450=)SNV Uncertain significance 333145 rs886055357 2:189932792-189932792 2:189068066-189068066
123 COL5A2 NM_000393.5(COL5A2):c.851C>T (p.Pro284Leu)SNV Uncertain significance 333147 rs540573303 2:189948711-189948711 2:189083985-189083985
124 COL5A2 NM_000393.5(COL5A2):c.552C>T (p.Pro184=)SNV Uncertain significance 333150 rs548352939 2:189957051-189957051 2:189092325-189092325
125 COL1A2 NM_000089.3(COL1A2):c.-428G>ASNV Uncertain significance 360937 rs753974789 7:94023916-94023916 7:94394604-94394604
126 COL1A2 NM_000089.3(COL1A2):c.71C>G (p.Ser24Cys)SNV Uncertain significance 360942 rs763546006 7:94027060-94027060 7:94397748-94397748
127 COL1A2 NM_000089.3(COL1A2):c.279+12T>CSNV Uncertain significance 360945 rs751199493 7:94030944-94030944 7:94401632-94401632
128 COL5A2 NM_000393.5(COL5A2):c.799-7C>ASNV Uncertain significance 333148 rs879227018 2:189948770-189948770 2:189084044-189084044
129 COL5A2 NM_000393.5(COL5A2):c.744+7G>ASNV Uncertain significance 333149 rs774993105 2:189950438-189950438 2:189085712-189085712
130 COL5A2 NM_000393.5(COL5A2):c.532C>T (p.His178Tyr)SNV Uncertain significance 333151 rs886055358 2:189957071-189957071 2:189092345-189092345
131 COL5A2 NM_000393.4(COL5A2):c.-176T>ASNV Uncertain significance 333152 rs570350400 2:190044506-190044506 2:189179780-189179780
132 COL5A2 NM_000393.5(COL5A2):c.*1894C>ASNV Uncertain significance 333099 rs886055347 2:189896902-189896902 2:189032176-189032176
133 COL5A2 NM_000393.5(COL5A2):c.3119A>G (p.Asn1040Ser)SNV Uncertain significance 333137 rs773168254 2:189914101-189914101 2:189049375-189049375
134 COL5A2 NM_000393.5(COL5A2):c.3040-8T>CSNV Uncertain significance 333138 rs886055355 2:189914188-189914188 2:189049462-189049462
135 COL1A1 NM_000088.3(COL1A1):c.2116G>A (p.Asp706Asn)SNV Uncertain significance 285239 rs372215246 17:48269160-48269160 17:50191799-50191799
136 COL5A2 NM_000393.5(COL5A2):c.2468T>C (p.Leu823Ser)SNV Uncertain significance 333142 rs372904150 2:189918652-189918652 2:189053926-189053926
137 COL5A2 NM_000393.5(COL5A2):c.*848T>CSNV Uncertain significance 333112 rs72902303 2:189897948-189897948 2:189033222-189033222
138 COL5A2 NM_000393.5(COL5A2):c.4333G>A (p.Val1445Ile)SNV Uncertain significance 333130 rs762653511 2:189899662-189899662 2:189034936-189034936
139 COL5A2 NM_000393.5(COL5A2):c.3614T>C (p.Val1205Ala)SNV Uncertain significance 333134 rs148110552 2:189906331-189906331 2:189041605-189041605
140 COL5A2 NM_000393.5(COL5A2):c.3379C>T (p.Arg1127Cys)SNV Uncertain significance 333135 rs886055354 2:189907969-189907969 2:189043243-189043243
141 COL5A2 NM_000393.5(COL5A2):c.3341G>A (p.Arg1114Gln)SNV Uncertain significance 333136 rs377049803 2:189909927-189909927 2:189045201-189045201
142 COL5A2 NM_000393.5(COL5A2):c.*1970T>GSNV Uncertain significance 333095 rs548360577 2:189896826-189896826 2:189032100-189032100
143 COL5A2 NM_000393.5(COL5A2):c.*1668C>GSNV Uncertain significance 333103 rs772852972 2:189897128-189897128 2:189032402-189032402
144 COL5A2 NM_000393.5(COL5A2):c.*1465G>TSNV Uncertain significance 333104 rs886055348 2:189897331-189897331 2:189032605-189032605
145 COL5A2 NM_000393.5(COL5A2):c.*1460A>TSNV Uncertain significance 333105 rs886055349 2:189897336-189897336 2:189032610-189032610
146 COL5A2 NM_000393.5(COL5A2):c.*904A>CSNV Uncertain significance 333111 rs778818824 2:189897892-189897892 2:189033166-189033166
147 COL5A2 NM_000393.5(COL5A2):c.*694_*695TA[1]short repeat Uncertain significance 333115 rs886055351 2:189898099-189898100 2:189033373-189033374
148 COL5A2 NM_000393.5(COL5A2):c.*126A>GSNV Uncertain significance 333128 rs755412373 2:189898670-189898670 2:189033944-189033944
149 COL5A2 NM_000393.5(COL5A2):c.2499+10A>GSNV Uncertain significance 333141 rs886055356 2:189918611-189918611 2:189053885-189053885
150 COL5A2 NM_000393.5(COL5A2):c.*590dupduplication Uncertain significance 333117 rs200554257 2:189898206-189898206 2:189033480-189033480
151 COL5A2 NM_000393.5(COL5A2):c.*1961T>CSNV Uncertain significance 333096 rs886055346 2:189896835-189896835 2:189032109-189032109
152 COL5A2 NM_000393.5(COL5A2):c.*1764G>TSNV Uncertain significance 333101 rs554165132 2:189897032-189897032 2:189032306-189032306
153 COL5A2 NM_000393.5(COL5A2):c.*716A>GSNV Uncertain significance 333114 rs886055350 2:189898080-189898080 2:189033354-189033354
154 COL5A2 NM_000393.5(COL5A2):c.*401A>CSNV Uncertain significance 333123 rs886055352 2:189898395-189898395 2:189033669-189033669
155 COL5A2 NM_000393.5(COL5A2):c.*211T>ASNV Uncertain significance 333127 rs776264833 2:189898585-189898585 2:189033859-189033859
156 COL5A2 NM_000393.5(COL5A2):c.3668C>T (p.Pro1223Leu)SNV Uncertain significance 333131 rs753383064 2:189904255-189904255 2:189039529-189039529
157 COL5A2 NM_000393.5(COL5A2):c.3633+14G>TSNV Uncertain significance 333132 rs776087725 2:189906298-189906298 2:189041572-189041572
158 COL5A2 NM_000393.5(COL5A2):c.3633+12A>GSNV Uncertain significance 333133 rs886055353 2:189906300-189906300 2:189041574-189041574
159 COL1A1 NM_000088.3(COL1A1):c.1042G>A (p.Ala348Thr)SNV Uncertain significance 35897 rs139955975 17:48273298-48273298 17:50195937-50195937
160 COL5A2 NM_000393.5(COL5A2):c.1292A>G (p.Lys431Arg)SNV Uncertain significance 213094 rs144602736 2:189932962-189932962 2:189068236-189068236
161 COL5A2 NM_000393.5(COL5A2):c.263C>A (p.Pro88His)SNV Uncertain significance 213134 rs149877855 2:189975010-189975010 2:189110284-189110284
162 COL5A2 NM_000393.5(COL5A2):c.3178C>T (p.Arg1060Trp)SNV Uncertain significance 213114 rs374549843 2:189912958-189912958 2:189048232-189048232
163 COL5A1 NM_001278074.1(COL5A1):c.805G>A (p.Glu269Lys)SNV Uncertain significance 198041 rs761079177 9:137620534-137620534 9:134728688-134728688
164 COL5A2 NM_000393.5(COL5A2):c.3794A>G (p.Asp1265Gly)SNV Uncertain significance 180305 rs200325397 2:189904129-189904129 2:189039403-189039403
165 COL5A1 NM_001278074.1(COL5A1):c.3023C>T (p.Thr1008Met)SNV Uncertain significance 213047 rs199735010 9:137694750-137694750 9:134802904-134802904
166 COL5A1 NM_001278074.1(COL5A1):c.3247C>T (p.Pro1083Ser)SNV Uncertain significance 212958 rs370321707 9:137697049-137697049 9:134805203-134805203
167 COL5A2 NM_000393.5(COL5A2):c.2741C>T (p.Ala914Val)SNV Uncertain significance 213092 rs201486858 2:189916926-189916926 2:189052200-189052200
168 COL5A1 NM_001278074.1(COL5A1):c.1637C>T (p.Ala546Val)SNV Uncertain significance 212937 rs557361751 9:137642703-137642703 9:134750857-134750857
169 COL5A1 NM_001278074.1(COL5A1):c.4652C>T (p.Thr1551Ile)SNV Uncertain significance 212985 rs863223460 9:137715269-137715269 9:134823423-134823423
170 COL5A1 NM_001278074.1(COL5A1):c.367C>G (p.Gln123Glu)SNV Uncertain significance 213011 rs142114921 9:137591844-137591844 9:134699998-134699998
171 COL1A1 NM_000088.3(COL1A1):c.2743C>T (p.Pro915Ser)SNV Uncertain significance 324106 rs756337302 17:48266824-48266824 17:50189463-50189463
172 COL1A1 NM_000088.3(COL1A1):c.1910C>G (p.Ala637Gly)SNV Uncertain significance 324110 rs886053161 17:48270020-48270020 17:50192659-50192659
173 COL1A1 NM_000088.3(COL1A1):c.*623G>ASNV Uncertain significance 324078 rs886053149 17:48262240-48262240 17:50184879-50184879
174 COL1A1 NM_000088.3(COL1A1):c.*378C>GSNV Uncertain significance 324080 rs148131473 17:48262485-48262485 17:50185124-50185124
175 COL1A1 NM_000088.3(COL1A1):c.*259_*260insATinsertion Uncertain significance 324081 rs886053151 17:48262603-48262604 17:50185242-50185243
176 COL1A1 NM_000088.3(COL1A1):c.*255dupduplication Uncertain significance 324084 rs886053153 17:48262608-48262608 17:50185247-50185247
177 COL1A1 NM_000088.3(COL1A1):c.*245deldeletion Uncertain significance 324087 rs886053156 17:48262618-48262618 17:50185257-50185257
178 COL1A1 NM_000088.3(COL1A1):c.*194G>ASNV Uncertain significance 324092 rs886053158 17:48262669-48262669 17:50185308-50185308
179 COL1A1 NM_000088.3(COL1A1):c.4140G>C (p.Gln1380His)SNV Uncertain significance 324096 rs886053159 17:48263247-48263247 17:50185886-50185886
180 COL5A1 NM_001278074.1(COL5A1):c.*2485G>ASNV Uncertain significance 365794 rs146334187 9:137736634-137736634 9:134844788-134844788
181 COL1A1 NM_000088.3(COL1A1):c.*1384_*1387deldeletion Uncertain significance 324053 rs886053139 17:48261476-48261479 17:50184115-50184118
182 COL1A1 NM_000088.3(COL1A1):c.*1030_*1031deldeletion Uncertain significance 324062 rs886053142 17:48261832-48261833 17:50184471-50184472
183 COL1A1 NM_000088.3(COL1A1):c.*1029_*1031deldeletion Uncertain significance 324063 rs886053143 17:48261832-48261834 17:50184471-50184473
184 COL1A1 NM_000088.3(COL1A1):c.*1027deldeletion Uncertain significance 324066 rs878912123 17:48261836-48261836 17:50184475-50184475
185 COL1A1 NM_000088.3(COL1A1):c.*1007_*1008deldeletion Uncertain significance 324067 rs886053144 17:48261855-48261856 17:50184494-50184495
186 COL1A1 NM_000088.3(COL1A1):c.*714C>TSNV Uncertain significance 324074 rs567392981 17:48262149-48262149 17:50184788-50184788
187 COL5A1 NM_001278074.1(COL5A1):c.4192G>A (p.Ala1398Thr)SNV Uncertain significance 365726 rs759464073 9:137709639-137709639 9:134817793-134817793
188 COL5A1 NM_001278074.1(COL5A1):c.4370C>T (p.Pro1457Leu)SNV Uncertain significance 365728 rs201875250 9:137710725-137710725 9:134818879-134818879
189 COL5A1 NM_001278074.1(COL5A1):c.5371-12C>TSNV Uncertain significance 365735 rs769740900 9:137733991-137733991 9:134842145-134842145
190 COL5A1 NM_001278074.1(COL5A1):c.*235C>TSNV Uncertain significance 365745 rs886063681 9:137734384-137734384 9:134842538-134842538
191 COL5A1 NM_001278074.1(COL5A1):c.*1848C>GSNV Uncertain significance 365784 rs886063692 9:137735997-137735997 9:134844151-134844151
192 COL5A1 NM_001278074.1(COL5A1):c.*1887G>ASNV Uncertain significance 365785 rs886063693 9:137736036-137736036 9:134844190-134844190
193 COL5A1 NM_001278074.1(COL5A1):c.*2175G>ASNV Uncertain significance 365788 rs781775180 9:137736324-137736324 9:134844478-134844478
194 COL5A1 NM_001278074.1(COL5A1):c.*2252T>CSNV Uncertain significance 365789 rs529530286 9:137736401-137736401 9:134844555-134844555
195 COL5A1 NM_001278074.1(COL5A1):c.*2294A>TSNV Uncertain significance 365790 rs571153134 9:137736443-137736443 9:134844597-134844597
196 COL5A1 NM_001278074.1(COL5A1):c.1989G>C (p.Arg663Ser)SNV Uncertain significance 365714 rs774093862 9:137653824-137653824 9:134761978-134761978
197 COL5A1 NM_001278074.1(COL5A1):c.2555A>G (p.Asn852Ser)SNV Uncertain significance 365717 rs148146480 9:137676905-137676905 9:134785059-134785059
198 COL5A1 NM_001278074.1(COL5A1):c.*596A>GSNV Uncertain significance 365753 rs775044518 9:137734745-137734745 9:134842899-134842899
199 COL5A1 NM_001278074.1(COL5A1):c.-364G>CSNV Uncertain significance 365697 rs780212970 9:137533670-137533670 9:134641824-134641824
200 COL1A2 NM_000089.3(COL1A2):c.2456G>A (p.Arg819His)SNV Uncertain significance 360962 rs773985005 7:94052321-94052321 7:94423009-94423009
201 COL5A1 NM_001278074.1(COL5A1):c.431C>A (p.Thr144Lys)SNV Uncertain significance 365706 rs561761305 9:137591908-137591908 9:134700062-134700062
202 COL5A1 NM_001278074.1(COL5A1):c.*727dupduplication Uncertain significance 365758 rs1554727609 9:137734876-137734876 9:134843030-134843030
203 COL5A1 NM_001278074.1(COL5A1):c.3111G>A (p.Thr1037=)SNV Uncertain significance 365718 rs758336822 9:137694838-137694838 9:134802992-134802992
204 COL5A1 NM_001278074.1(COL5A1):c.4275C>T (p.Ile1425=)SNV Uncertain significance 365727 rs767372665 9:137710546-137710546 9:134818700-134818700
205 COL5A1 NM_001278074.1(COL5A1):c.4371G>A (p.Pro1457=)SNV Uncertain significance 365729 rs756096066 9:137710726-137710726 9:134818880-134818880
206 COL5A1 NM_001278074.1(COL5A1):c.5293C>T (p.Arg1765Cys)SNV Uncertain significance 365734 rs199703883 9:137726973-137726973 9:134835127-134835127
207 COL5A1 NM_001278074.1(COL5A1):c.*55G>ASNV Uncertain significance 365738 rs533831376 9:137734204-137734204 9:134842358-134842358
208 COL5A1 NM_001278074.1(COL5A1):c.*68C>TSNV Uncertain significance 365740 rs886063679 9:137734217-137734217 9:134842371-134842371
209 COL1A2 NM_000089.3(COL1A2):c.3809A>G (p.Tyr1270Cys)SNV Uncertain significance 360973 rs886062519 7:94058597-94058597 7:94429285-94429285
210 COL1A2 NM_000089.3(COL1A2):c.*605A>GSNV Uncertain significance 360981 rs537557756 7:94060310-94060310 7:94430998-94430998
211 COL1A2 NM_000089.3(COL1A2):c.*618T>CSNV Uncertain significance 360982 rs557107553 7:94060323-94060323 7:94431011-94431011
212 COL1A1 NM_000088.3(COL1A1):c.1669-10C>ASNV Uncertain significance 324112 rs886053162 17:48271412-48271412 17:50194051-50194051
213 COL1A1 NM_000088.3(COL1A1):c.-66G>ASNV Uncertain significance 324129 rs565562045 17:48278940-48278940 17:50201579-50201579
214 COL1A1 NM_000088.3(COL1A1):c.-98G>CSNV Uncertain significance 324131 rs574683904 17:48278972-48278972 17:50201611-50201611
215 COL1A1 NM_000088.3(COL1A1):c.*1205C>GSNV Uncertain significance 324057 rs551536386 17:48261658-48261658 17:50184297-50184297
216 COL1A1 NM_000088.3(COL1A1):c.*998_*999deldeletion Uncertain significance 324068 rs886053145 17:48261864-48261865 17:50184503-50184504
217 COL1A1 NM_000088.3(COL1A1):c.*981G>CSNV Uncertain significance 324069 rs574167621 17:48261882-48261882 17:50184521-50184521
218 COL1A1 NM_000088.3(COL1A1):c.*815A>GSNV Uncertain significance 324070 rs886053146 17:48262048-48262048 17:50184687-50184687
219 COL1A1 NM_000088.3(COL1A1):c.*795C>TSNV Uncertain significance 324071 rs886053147 17:48262068-48262068 17:50184707-50184707
220 COL1A1 NM_000088.3(COL1A1):c.*682C>TSNV Uncertain significance 324075 rs77720683 17:48262181-48262181 17:50184820-50184820
221 COL1A1 NM_000088.3(COL1A1):c.*257_*258dupduplication Uncertain significance 324083 rs886053152 17:48262605-48262606 17:50185244-50185245
222 COL1A1 NM_000088.3(COL1A1):c.*258dupduplication Uncertain significance 324082 rs886053152 17:48262605-48262605 17:50185244-50185244
223 COL1A1 NM_000088.3(COL1A1):c.*245_*246dupduplication Uncertain significance 324086 rs886053155 17:48262617-48262618 17:50185256-50185257
224 COL1A1 NM_000088.3(COL1A1):c.*1165C>GSNV Uncertain significance 324059 rs149419718 17:48261698-48261698 17:50184337-50184337
225 COL1A1 NM_000088.3(COL1A1):c.*1087C>TSNV Uncertain significance 324060 rs557843360 17:48261776-48261776 17:50184415-50184415
226 COL1A1 NM_000088.3(COL1A1):c.*1026_*1028deldeletion Uncertain significance 324065 rs751268781 17:48261835-48261837 17:50184474-50184476
227 COL1A1 NM_000088.3(COL1A1):c.*733G>ASNV Uncertain significance 324073 rs886053148 17:48262130-48262130 17:50184769-50184769
228 COL1A1 NM_000088.3(COL1A1):c.*437A>CSNV Uncertain significance 324079 rs886053150 17:48262426-48262426 17:50185065-50185065
229 COL1A1 NM_000088.3(COL1A1):c.*251dupduplication Uncertain significance 324085 rs886053154 17:48262612-48262612 17:50185251-50185251
230 COL1A1 NM_000088.3(COL1A1):c.*202A>GSNV Uncertain significance 324091 rs564917505 17:48262661-48262661 17:50185300-50185300
231 COL1A1 NM_000088.3(COL1A1):c.957+15C>TSNV Uncertain significance 324115 rs779096006 17:48273660-48273660 17:50196299-50196299
232 COL1A1 NM_000088.3(COL1A1):c.3099+7T>GSNV Uncertain significance 324104 rs201682029 17:48266096-48266096 17:50188735-50188735
233 COL1A1 NM_000088.3(COL1A1):c.229G>A (p.Glu77Lys)SNV Uncertain significance 324121 rs753683126 17:48277183-48277183 17:50199822-50199822
234 COL1A1 NM_000088.3(COL1A1):c.-23G>ASNV Uncertain significance 324126 rs200689194 17:48278897-48278897 17:50201536-50201536
235 COL1A1 NM_000088.3(COL1A1):c.*1324A>GSNV Uncertain significance 324054 rs886053140 17:48261539-48261539 17:50184178-50184178
236 COL1A1 NM_000088.3(COL1A1):c.-115G>ASNV Uncertain significance 324132 rs886053164 17:48278989-48278989 17:50201628-50201628
237 COL1A1 NM_000088.3(COL1A1):c.*1045deldeletion Uncertain significance 324061 rs886053141 17:48261818-48261818 17:50184457-50184457
238 COL1A1 NM_000088.3(COL1A1):c.*1028_*1029delTGshort repeat Uncertain significance 324064 rs878983048 17:48261834-48261835 17:50184473-50184474
239 COL1A1 NM_000088.3(COL1A1):c.*631G>ASNV Uncertain significance 324077 rs569577942 17:48262232-48262232 17:50184871-50184871
240 COL1A1 NM_000088.3(COL1A1):c.*242_*244dupduplication Uncertain significance 324089 rs56302025 17:48262619-48262621 17:50185258-50185260
241 COL1A1 NM_000088.3(COL1A1):c.3630C>T (p.His1210=)SNV Uncertain significance 324099 rs745320719 17:48264185-48264185 17:50186824-50186824
242 COL1A1 NM_000088.3(COL1A1):c.*215deldeletion Uncertain significance 324090 rs886053157 17:48262648-48262648 17:50185287-50185287
243 COL1A1 NM_000088.3(COL1A1):c.*21G>CSNV Uncertain significance 324094 rs201085309 17:48262842-48262842 17:50185481-50185481
244 COL1A1 NM_000088.3(COL1A1):c.4092G>A (p.Gln1364=)SNV Uncertain significance 324097 rs886053160 17:48263295-48263295 17:50185934-50185934
245 COL1A1 NM_000088.3(COL1A1):c.4372G>A (p.Val1458Ile)SNV Uncertain significance 324095 rs138557594 17:48262886-48262886 17:50185525-50185525
246 COL1A1 NM_000088.3(COL1A1):c.3233T>C (p.Val1078Ala)SNV Uncertain significance 324102 rs767525556 17:48265485-48265485 17:50188124-50188124
247 COL1A1 NM_000088.3(COL1A1):c.2467C>G (p.Pro823Ala)SNV Uncertain significance 324108 rs1800214 17:48267454-48267454 17:50190093-50190093
248 COL1A1 NM_000088.3(COL1A1):c.1888G>A (p.Glu630Lys)SNV Uncertain significance 324111 rs775106436 17:48270042-48270042 17:50192681-50192681
249 COL1A1 NM_000088.3(COL1A1):c.649A>T (p.Met217Leu)SNV Uncertain significance 324116 rs763409550 17:48275140-48275140 17:50197779-50197779
250 COL1A1 NM_000088.3(COL1A1):c.4196G>A (p.Arg1399His)SNV Uncertain significance 450185 rs146035171 17:48263191-48263191 17:50185830-50185830
251 COL1A1 NM_000088.3(COL1A1):c.-78_-77delinsAAindel Uncertain significance 324130 rs886053163 17:48278951-48278952 17:50201590-50201591
252 COL1A1 NM_000088.3(COL1A1):c.1375C>A (p.Pro459Thr)SNV Uncertain significance 388459 rs751299130 17:48272168-48272168 17:50194807-50194807
253 COL1A1 NM_000088.3(COL1A1):c.2845C>T (p.Pro949Ser)SNV Uncertain significance 567054 rs1434279534 17:48266621-48266621 17:50189260-50189260
254 COL1A1 NM_000088.3(COL1A1):c.*744C>TSNV Likely benign 324072 rs1061947 17:48262119-48262119 17:50184758-50184758
255 COL1A1 NM_000088.3(COL1A1):c.*1233G>ASNV Likely benign 324056 rs73987442 17:48261630-48261630 17:50184269-50184269
256 COL1A1 NM_000088.3(COL1A1):c.*1175T>GSNV Likely benign 324058 rs75713851 17:48261688-48261688 17:50184327-50184327
257 COL1A1 NM_000088.3(COL1A1):c.*1265C>TSNV Likely benign 324055 rs567249120 17:48261598-48261598 17:50184237-50184237
258 COL1A1 NM_000088.3(COL1A1):c.*88T>CSNV Likely benign 324093 rs1061237 17:48262775-48262775 17:50185414-50185414
259 COL5A1 NM_001278074.1(COL5A1):c.-110A>GSNV Likely benign 365703 rs180741151 9:137533924-137533924 9:134642078-134642078
260 COL1A2 NM_000089.3(COL1A2):c.*283T>CSNV Likely benign 360979 rs114837909 7:94059988-94059988 7:94430676-94430676
261 COL1A2 NM_000089.3(COL1A2):c.3614G>A (p.Arg1205Gln)SNV Likely benign 360969 rs73428220 7:94057692-94057692 7:94428380-94428380
262 COL5A1 NM_001278074.1(COL5A1):c.*1260G>ASNV Likely benign 365770 rs557696379 9:137735409-137735409 9:134843563-134843563
263 COL5A1 NM_001278074.1(COL5A1):c.*1642G>ASNV Likely benign 365775 rs116053626 9:137735791-137735791 9:134843945-134843945
264 COL5A1 NM_001278074.1(COL5A1):c.*1653dupduplication Likely benign 365776 rs541530510 9:137735802-137735802 9:134843956-134843956
265 COL5A1 NM_001278074.1(COL5A1):c.*283G>ASNV Likely benign 365748 rs114171895 9:137734432-137734432 9:134842586-134842586
266 COL5A1 NM_001278074.1(COL5A1):c.*311C>TSNV Likely benign 365750 rs1134114 9:137734460-137734460 9:134842614-134842614
267 COL5A1 NM_001278074.1(COL5A1):c.-382C>GSNV Likely benign 365696 rs555826102 9:137533652-137533652 9:134641806-134641806
268 COL5A1 NM_001278074.1(COL5A1):c.*660G>ASNV Likely benign 365756 rs73664168 9:137734809-137734809 9:134842963-134842963
269 COL5A1 NM_001278074.1(COL5A1):c.3906+15G>CSNV Likely benign 365724 rs370937109 9:137705897-137705897 9:134814051-134814051
270 COL5A1 NM_001278074.1(COL5A1):c.*2429T>CSNV Likely benign 365793 rs56031840 9:137736578-137736578 9:134844732-134844732
271 COL5A1 NM_001278074.1(COL5A1):c.*1922G>ASNV Likely benign 365786 rs74979726 9:137736071-137736071 9:134844225-134844225
272 COL5A1 NM_001278074.1(COL5A1):c.*2090C>TSNV Likely benign 365787 rs578207933 9:137736239-137736239 9:134844393-134844393
273 COL5A1 NM_001278074.1(COL5A1):c.*424A>GSNV Likely benign 365751 rs574355137 9:137734573-137734573 9:134842727-134842727
274 COL5A1 NM_001278074.1(COL5A1):c.*608G>ASNV Likely benign 365754 rs537858864 9:137734757-137734757 9:134842911-134842911
275 COL5A1 NM_001278074.1(COL5A1):c.*629A>GSNV Likely benign 365755 rs150345666 9:137734778-137734778 9:134842932-134842932
276 COL5A1 NM_001278074.1(COL5A1):c.*948C>GSNV Likely benign 365766 rs142032213 9:137735097-137735097 9:134843251-134843251
277 COL5A1 NM_001278074.1(COL5A1):c.*58C>TSNV Likely benign 365739 rs56259444 9:137734207-137734207 9:134842361-134842361
278 COL1A1 NM_000088.3(COL1A1):c.*681_*682insAGCAinsertion Likely benign 324076 rs3840870 17:48262181-48262182 17:50184820-50184821
279 COL5A1 NM_001278074.1(COL5A1):c.*1637C>ASNV Likely benign 365774 rs148823980 9:137735786-137735786 9:134843940-134843940
280 COL5A1 NM_001278074.1(COL5A1):c.*1806C>TSNV Likely benign 365780 rs11556648 9:137735955-137735955 9:134844109-134844109
281 COL5A1 NM_001278074.1(COL5A1):c.*1807G>CSNV Likely benign 365781 rs374715103 9:137735956-137735956 9:134844110-134844110
282 COL5A2 NM_000393.5(COL5A2):c.*1379A>GSNV Likely benign 333108 rs114330868 2:189897417-189897417 2:189032691-189032691
283 COL5A1 NM_001278074.1(COL5A1):c.278C>T (p.Ala93Val)SNV Likely benign 212916 rs41306397 9:137591755-137591755 9:134699909-134699909
284 COL5A2 NM_000393.5(COL5A2):c.*46C>ASNV Likely benign 333129 rs112739705 2:189898750-189898750 2:189034024-189034024
285 COL5A2 NM_000393.5(COL5A2):c.*392T>CSNV Likely benign 333124 rs1131518 2:189898404-189898404 2:189033678-189033678
286 COL5A2 NM_000393.5(COL5A2):c.*1400A>GSNV Likely benign 333107 rs12886 2:189897396-189897396 2:189032670-189032670
287 COL5A2 NM_000393.5(COL5A2):c.*1904C>TSNV Likely benign 333098 rs75096234 2:189896892-189896892 2:189032166-189032166
288 COL5A2 NM_000393.5(COL5A2):c.*423C>TSNV Likely benign 333122 rs77413180 2:189898373-189898373 2:189033647-189033647
289 COL5A2 NM_000393.5(COL5A2):c.*1402T>GSNV Likely benign 333106 rs11186 2:189897394-189897394 2:189032668-189032668
290 COL5A2 NM_000393.5(COL5A2):c.*515C>TSNV Likely benign 333120 rs113311693 2:189898281-189898281 2:189033555-189033555
291 COL5A2 NM_000393.5(COL5A2):c.*639G>ASNV Likely benign 333116 rs73981487 2:189898157-189898157 2:189033431-189033431
292 COL5A2 NM_000393.5(COL5A2):c.*589_*590deldeletion Likely benign 333118 rs200554257 2:189898206-189898207 2:189033480-189033481
293 COL5A2 NM_000393.5(COL5A2):c.*798A>GSNV Likely benign 333113 rs116775405 2:189897998-189897998 2:189033272-189033272
294 COL5A2 NM_000393.5(COL5A2):c.*1165G>ASNV Likely benign 333109 rs13914 2:189897631-189897631 2:189032905-189032905
295 COL5A2 NM_000393.5(COL5A2):c.*1076G>ASNV Likely benign 333110 rs114123906 2:189897720-189897720 2:189032994-189032994
296 COL5A2 NM_000393.5(COL5A2):c.*561T>CSNV Likely benign 333119 rs564981830 2:189898235-189898235 2:189033509-189033509
297 COL5A2 NM_000393.5(COL5A2):c.*446G>ASNV Likely benign 333121 rs570467727 2:189898350-189898350 2:189033624-189033624
298 COL5A2 NM_000393.5(COL5A2):c.*2062G>ASNV Likely benign 333094 rs77821675 2:189896734-189896734 2:189032008-189032008
299 COL5A2 NM_000393.5(COL5A2):c.2852G>A (p.Gly951Glu)SNV Likely benign 333139 rs772448543 2:189916125-189916125 2:189051399-189051399
300 COL5A2 NM_000393.5(COL5A2):c.*1852T>CSNV Likely benign 333100 rs116255986 2:189896944-189896944 2:189032218-189032218
301 COL5A2 NM_000393.5(COL5A2):c.*1669G>ASNV Likely benign 333102 rs76151083 2:189897127-189897127 2:189032401-189032401
302 COL5A2 NM_000393.5(COL5A2):c.*391A>GSNV Likely benign 333125 rs143552248 2:189898405-189898405 2:189033679-189033679
303 COL5A2 NM_000393.5(COL5A2):c.*298G>ASNV Likely benign 333126 rs7586 2:189898498-189898498 2:189033772-189033772
304 COL5A2 NM_000393.5(COL5A2):c.*2131T>ASNV Likely benign 333093 rs113513554 2:189896665-189896665 2:189031939-189031939
305 COL5A2 NM_000393.5(COL5A2):c.*1960A>GSNV Likely benign 333097 rs76482660 2:189896836-189896836 2:189032110-189032110
306 COL1A2 NM_000089.3(COL1A2):c.783T>C (p.Pro261=)SNV Likely benign 360948 rs200436925 7:94038126-94038126 7:94408814-94408814
307 COL1A2 NM_000089.3(COL1A2):c.*205A>GSNV Likely benign 360978 rs6955879 7:94059910-94059910 7:94430598-94430598
308 COL1A2 NM_000089.3(COL1A2):c.*415T>GSNV Likely benign 360980 rs148913603 7:94060120-94060120 7:94430808-94430808
309 COL1A2 NM_000089.3(COL1A2):c.*804G>TSNV Likely benign 360984 rs1062394 7:94060509-94060509 7:94431197-94431197
310 COL5A1 NM_001278074.1(COL5A1):c.*1343A>GSNV Likely benign 365771 rs77145856 9:137735492-137735492 9:134843646-134843646
311 COL5A1 NM_001278074.1(COL5A1):c.*145G>ASNV Likely benign 365742 rs181323324 9:137734294-137734294 9:134842448-134842448
312 COL5A1 NM_001278074.1(COL5A1):c.*190G>ASNV Likely benign 365744 rs55748801 9:137734339-137734339 9:134842493-134842493
313 COL5A1 NM_001278074.1(COL5A1):c.*269C>TSNV Likely benign 365747 rs372857096 9:137734418-137734418 9:134842572-134842572
314 COL5A1 NM_001278074.1(COL5A1):c.*302C>GSNV Likely benign 365749 rs376087882 9:137734451-137734451 9:134842605-134842605
315 COL5A1 NM_001278074.1(COL5A1):c.4795G>C (p.Glu1599Gln)SNV Likely benign 365731 rs149212775 9:137716542-137716542 9:134824696-134824696
316 COL5A1 NM_001278074.1(COL5A1):c.1270A>G (p.Thr424Ala)SNV Likely benign 365710 rs535363331 9:137623447-137623447 9:134731601-134731601
317 COL5A1 NM_001278074.1(COL5A1):c.*724C>TSNV Likely benign 365759 rs116156416 9:137734873-137734873 9:134843027-134843027
318 COL1A2 NM_000089.3(COL1A2):c.-287C>TSNV Likely benign 360939 rs190926256 7:94024057-94024057 7:94394745-94394745
319 COL5A1 NM_001278074.1(COL5A1):c.*1443G>ASNV Likely benign 365772 rs10895 9:137735592-137735592 9:134843746-134843746
320 COL5A1 NM_001278074.1(COL5A1):c.*1562A>GSNV Likely benign 365773 rs116561240 9:137735711-137735711 9:134843865-134843865
321 COL1A2 NM_000089.3(COL1A2):c.*195C>TSNV Likely benign 360977 rs190115417 7:94059900-94059900 7:94430588-94430588
322 COL1A2 NM_000089.3(COL1A2):c.122G>A (p.Arg41His)SNV Benign/Likely benign 360944 rs139528613 7:94028386-94028386 7:94399074-94399074
323 COL1A2 NM_000089.3(COL1A2):c.3712-13C>TSNV Benign/Likely benign 360971 rs74335369 7:94058487-94058487 7:94429175-94429175
324 COL5A1 NM_001278074.1(COL5A1):c.2031G>A (p.Glu677=)SNV Benign/Likely benign 212889 rs61737719 9:137655580-137655580 9:134763734-134763734
325 COL5A1 NM_001278074.1(COL5A1):c.2058G>A (p.Pro686=)SNV Benign/Likely benign 212890 rs143443499 9:137657550-137657550 9:134765704-134765704
326 COL1A1 NM_000088.3(COL1A1):c.1821C>T (p.Val607=)SNV Benign/Likely benign 286349 rs41316667 17:48270355-48270355 17:50192994-50192994
327 COL1A2 NM_000089.3(COL1A2):c.3135C>T (p.Gly1045=)SNV Benign/Likely benign 254956 rs1800248 7:94056349-94056349 7:94427037-94427037
328 COL1A2 NM_000089.3(COL1A2):c.594+5A>TSNV Benign/Likely benign 281902 rs200744314 7:94035620-94035620 7:94406308-94406308
329 COL1A1 NM_000088.3(COL1A1):c.1615-4C>ASNV Benign/Likely benign 283606 rs41316657 17:48271548-48271548 17:50194187-50194187
330 COL1A1 NM_000088.3(COL1A1):c.1300-8C>GSNV Benign/Likely benign 235542 rs41317361 17:48272469-48272469 17:50195108-50195108
331 COL5A1 NM_001278074.1(COL5A1):c.761C>T (p.Ser254Leu)SNV Benign/Likely benign 237008 rs144844792 9:137619218-137619218 9:134727372-134727372
332 COL1A1 NM_000088.3(COL1A1):c.2298T>C (p.Thr766=)SNV Benign/Likely benign 254947 rs2734272 17:48268223-48268223 17:50190862-50190862
333 COL1A1 NM_000088.3(COL1A1):c.1930-14T>CSNV Benign/Likely benign 254946 rs2696247 17:48269903-48269903 17:50192542-50192542
334 COL1A1 NM_000088.3(COL1A1):c.859-14T>GSNV Benign/Likely benign 254951 rs17639446 17:48273903-48273903 17:50196542-50196542
335 COL1A1 NM_000088.3(COL1A1):c.177G>T (p.Arg59=)SNV Benign/Likely benign 254945 rs1057297 17:48277235-48277235 17:50199874-50199874
336 COL5A2 NM_000393.5(COL5A2):c.2988C>T (p.Gly996=)SNV Benign/Likely benign 264616 rs201299226 2:189915346-189915346 2:189050620-189050620
337 COL5A1 NM_001278074.1(COL5A1):c.240C>T (p.Asp80=)SNV Benign/Likely benign 195014 rs79724538 9:137582888-137582888 9:134691042-134691042
338 COL1A1 NM_000088.3(COL1A1):c.1300-8C>TSNV Benign/Likely benign 195451 rs41317361 17:48272469-48272469 17:50195108-50195108
339 COL5A2 NM_000393.5(COL5A2):c.-50C>TSNV Benign/Likely benign 136966 rs183260194 2:190044380-190044380 2:189179654-189179654
340 COL5A2 NM_000393.5(COL5A2):c.-34C>TSNV Benign/Likely benign 136967 rs114102476 2:190044364-190044364 2:189179638-189179638
341 COL5A2 NM_000393.5(COL5A2):c.568-10G>ASNV Benign/Likely benign 136970 rs58106884 2:189953508-189953508 2:189088782-189088782
342 COL5A2 NM_000393.5(COL5A2):c.852+14C>TSNV Benign/Likely benign 136971 rs56310996 2:189948696-189948696 2:189083970-189083970
343 COL1A2 NM_000089.3(COL1A2):c.82-12A>GSNV Benign/Likely benign 196206 rs143689469 7:94027682-94027682 7:94398370-94398370
344 COL5A1 NM_001278074.1(COL5A1):c.*14C>TSNV Benign/Likely benign 212781 rs12553247 9:137734163-137734163 9:134842317-134842317
345 COL5A2 NM_000393.5(COL5A2):c.2787G>A (p.Ala929=)SNV Benign/Likely benign 197452 rs151027388 2:189916190-189916190 2:189051464-189051464
346 COL1A1 NM_000088.3(COL1A1):c.4249-12G>ASNV Benign/Likely benign 197918 rs2249492 17:48263021-48263021 17:50185660-50185660
347 COL5A2 NM_000393.5(COL5A2):c.2770-15deldeletion Benign/Likely benign 213081 rs577038385 2:189916222-189916222 2:189051496-189051496
348 COL5A2 NM_000393.5(COL5A2):c.1454C>A (p.Pro485Gln)SNV Benign/Likely benign 213074 rs145281966 2:189931456-189931456 2:189066730-189066730
349 COL5A2 NM_000393.5(COL5A2):c.1301C>T (p.Thr434Met)SNV Benign/Likely benign 212979 rs145850743 2:189932953-189932953 2:189068227-189068227
350 COL5A1 NM_001278074.1(COL5A1):c.996C>T (p.Asp332=)SNV Benign/Likely benign 212924 rs144763302 9:137622153-137622153 9:134730307-134730307
351 COL5A1 NM_001278074.1(COL5A1):c.1077G>A (p.Glu359=)SNV Benign/Likely benign 212925 rs201166370 9:137622234-137622234 9:134730388-134730388
352 COL5A1 NM_001278074.1(COL5A1):c.1158C>T (p.Ser386=)SNV Benign/Likely benign 212926 rs61729497 9:137622315-137622315 9:134730469-134730469
353 COL5A1 NM_001278074.1(COL5A1):c.193C>T (p.Arg65Trp)SNV Benign/Likely benign 213006 rs139468527 9:137582841-137582841 9:134690995-134690995
354 COL5A2 NM_000393.5(COL5A2):c.33C>T (p.Leu11=)SNV Benign/Likely benign 213089 rs140108893 2:190044298-190044298 2:189179572-189179572
355 COL5A1 NM_001278074.1(COL5A1):c.61C>T (p.Pro21Ser)SNV Benign/Likely benign 212930 rs548525119 9:137534094-137534094 9:134642248-134642248
356 COL5A1 NM_001278074.1(COL5A1):c.4065C>T (p.Pro1355=)SNV Benign/Likely benign 136887 rs61737906 9:137707472-137707472 9:134815626-134815626
357 COL5A1 NM_001278074.1(COL5A1):c.4122G>A (p.Thr1374=)SNV Benign/Likely benign 136889 rs3827848 9:137707834-137707834 9:134815988-134815988
358 COL5A1 NM_001278074.1(COL5A1):c.4135C>T (p.Pro1379Ser)SNV Benign/Likely benign 136890 rs61739195 9:137708884-137708884 9:134817038-134817038
359 COL5A1 NM_001278074.1(COL5A1):c.4560C>T (p.Ile1520=)SNV Benign/Likely benign 136901 rs2228559 9:137713948-137713948 9:134822102-134822102
360 COL5A1 NM_001278074.1(COL5A1):c.4683A>C (p.Gly1561=)SNV Benign/Likely benign 136902 rs149959668 9:137715300-137715300 9:134823454-134823454
361 COL5A1 NM_001278074.1(COL5A1):c.4699-6C>TSNV Benign/Likely benign 136904 rs113090154 9:137716440-137716440 9:134824594-134824594
362 COL5A1 NM_001278074.1(COL5A1):c.5068-139T>CSNV Benign/Likely benign 136908 rs113256540 9:137721815-137721815 9:134829969-134829969
363 COL5A1 NM_001278074.1(COL5A1):c.5137-12C>TSNV Benign/Likely benign 136909 rs191758714 9:137726805-137726805 9:134834959-134834959
364 COL5A1 NM_001278074.1(COL5A1):c.5137-11T>CSNV Benign/Likely benign 136910 rs183495554 9:137726806-137726806 9:134834960-134834960
365 COL5A1 NM_001278074.1(COL5A1):c.5151C>T (p.Asp1717=)SNV Benign/Likely benign 136911 rs61729558 9:137726831-137726831 9:134834985-134834985
366 COL5A1 NM_001278074.1(COL5A1):c.5190C>T (p.Phe1730=)SNV Benign/Likely benign 136912 rs61729481 9:137726870-137726870 9:134835024-134835024
367 COL5A1 NM_001278074.1(COL5A1):c.5270C>T (p.Thr1757Met)SNV Benign/Likely benign 136914 rs2229817 9:137726950-137726950 9:134835104-134835104
368 COL5A1 NM_001278074.1(COL5A1):c.252C>T (p.Ser84=)SNV Benign/Likely benign 136917 rs151293601 9:137582900-137582900 9:134691054-134691054
369 COL5A1 NM_001278074.1(COL5A1):c.378G>T (p.Gln126His)SNV Benign/Likely benign 136918 rs145178917 9:137591855-137591855 9:134700009-134700009
370 COL5A1 NM_001278074.1(COL5A1):c.573C>T (p.Leu191=)SNV Benign/Likely benign 136919 rs116715381 9:137593098-137593098 9:134701252-134701252
371 COL5A1 NM_001278074.1(COL5A1):c.574G>A (p.Asp192Asn)SNV Benign/Likely benign 136920 rs138579182 9:137593099-137593099 9:134701253-134701253
372 COL5A1 NM_001278074.1(COL5A1):c.-37G>ASNV Benign/Likely benign 136921 rs374979485 9:137533997-137533997 9:134642151-134642151
373 COL1A1 NM_000088.3(COL1A1):c.3897C>T (p.Cys1299=)SNV Benign/Likely benign 35922 rs34940368 17:48263786-48263786 17:50186425-50186425
374 COL1A2 NM_000089.3(COL1A2):c.1036-14G>ASNV Benign/Likely benign 35932 rs114322680 7:94039540-94039540 7:94410228-94410228
375 COL1A2 NM_000089.3(COL1A2):c.3018C>T (p.Gly1006=)SNV Benign/Likely benign 35945 rs62001059 7:94055755-94055755 7:94426443-94426443
376 COL1A2 NM_000089.3(COL1A2):c.3336C>T (p.Tyr1112=)SNV Benign/Likely benign 35948 rs34691365 7:94057007-94057007 7:94427695-94427695
377 COL1A2 NM_000089.3(COL1A2):c.948C>T (p.Gly316=)SNV Benign/Likely benign 35960 rs34511999 7:94039046-94039046 7:94409734-94409734
378 COL5A1 NM_001278074.1(COL5A1):c.1588G>A (p.Gly530Ser)SNV Benign/Likely benign 38863 rs61735045 9:137642654-137642654 9:134750808-134750808
379 COL5A1 NM_001278074.1(COL5A1):c.1566G>A (p.Leu522=)SNV Benign/Likely benign 136860 rs61737941 9:137642459-137642459 9:134750613-134750613
380 COL5A1 NM_001278074.1(COL5A1):c.1569+15C>TSNV Benign/Likely benign 136861 rs62574081 9:137642477-137642477 9:134750631-134750631
381 COL5A1 NM_001278074.1(COL5A1):c.1935+8T>GSNV Benign/Likely benign 136863 rs79195626 9:137650150-137650150 9:134758304-134758304
382 COL5A1 NM_001278074.1(COL5A1):c.2724G>A (p.Pro908=)SNV Benign/Likely benign 136869 rs41310207 9:137686951-137686951 9:134795105-134795105
383 COL5A1 NM_001278074.1(COL5A1):c.2745+15A>TSNV Benign/Likely benign 136870 rs79481146 9:137686987-137686987 9:134795141-134795141
384 COL5A1 NM_001278074.1(COL5A1):c.2799+4T>CSNV Benign/Likely benign 136871 rs75815945 9:137687165-137687165 9:134795319-134795319
385 COL5A1 NM_001278074.1(COL5A1):c.2852A>G (p.Asn951Ser)SNV Benign/Likely benign 136875 rs61736966 9:137688701-137688701 9:134796855-134796855
386 COL5A1 NM_001278074.1(COL5A1):c.2892C>T (p.Gly964=)SNV Benign/Likely benign 136876 rs78511105 9:137688741-137688741 9:134796895-134796895
387 COL5A2 NM_000393.5(COL5A2):c.4449C>T (p.Gly1483=)SNV Benign/Likely benign 136959 rs78905646 2:189898847-189898847 2:189034121-189034121
388 COL5A2 NM_000393.5(COL5A2):c.98-12T>GSNV Benign/Likely benign 136960 rs117917418 2:189975187-189975187 2:189110461-189110461
389 COL5A2 NM_000393.5(COL5A2):c.198T>C (p.Asn66=)SNV Benign/Likely benign 136961 rs76511879 2:189975075-189975075 2:189110349-189110349
390 COL5A2 NM_000393.5(COL5A2):c.261G>A (p.Thr87=)SNV Benign/Likely benign 136963 rs142044596 2:189975012-189975012 2:189110286-189110286
391 COL5A1 NM_001278074.1(COL5A1):c.1333-8A>GSNV Benign/Likely benign 136929 rs145620416 9:137623909-137623909 9:134732063-134732063
392 COL5A1 NM_001278074.1(COL5A1):c.1062C>T (p.Asp354=)SNV Benign/Likely benign 136926 rs61737708 9:137622219-137622219 9:134730373-134730373
393 COL5A1 NM_001278074.1(COL5A1):c.4230+5C>TSNV Benign/Likely benign 136892 rs142248898 9:137709682-137709682 9:134817836-134817836
394 COL5A1 NM_001278074.1(COL5A1):c.4230+6G>ASNV Benign/Likely benign 136893 rs77176843 9:137709683-137709683 9:134817837-134817837
395 COL5A1 NM_001278074.1(COL5A1):c.4231-12G>ASNV Benign/Likely benign 136894 rs188473199 9:137710490-137710490 9:134818644-134818644
396 COL5A1 NM_001278074.1(COL5A1):c.4393-9C>TSNV Benign/Likely benign 136897 rs11792181 9:137710837-137710837 9:134818991-134818991
397 COL5A1 NM_001278074.1(COL5A1):c.4410C>T (p.Pro1470=)SNV Benign/Likely benign 136898 rs41310953 9:137710863-137710863 9:134819017-134819017
398 COL5A1 NM_001278074.1(COL5A1):c.4482G>A (p.Pro1494=)SNV Benign/Likely benign 136899 rs2228560 9:137711997-137711997 9:134820151-134820151
399 COL5A2 NM_000393.5(COL5A2):c.975C>T (p.Pro325=)SNV Benign/Likely benign 136932 rs144344474 2:189943819-189943819 2:189079093-189079093
400 COL5A2 NM_000393.5(COL5A2):c.1006-9C>TSNV Benign/Likely benign 136933 rs73978832 2:189943304-189943304 2:189078578-189078578
401 COL5A2 NM_000393.5(COL5A2):c.1035G>C (p.Gly345=)SNV Benign/Likely benign 136934 rs148786600 2:189943266-189943266 2:189078540-189078540
402 COL5A2 NM_000393.5(COL5A2):c.1081A>C (p.Met361Leu)SNV Benign/Likely benign 136935 rs76148000 2:189940142-189940142 2:189075416-189075416
403 COL5A2 NM_000393.5(COL5A2):c.1104+15T>CSNV Benign/Likely benign 136936 rs75486409 2:189940104-189940104 2:189075378-189075378
404 COL5A2 NM_000393.5(COL5A2):c.1378C>T (p.Pro460Ser)SNV Benign/Likely benign 136939 rs35830636 2:189932764-189932764 2:189068038-189068038
405 COL5A2 NM_000393.5(COL5A2):c.1400C>T (p.Pro467Leu)SNV Benign/Likely benign 136940 rs115570272 2:189932742-189932742 2:189068016-189068016
406 COL5A2 NM_000393.5(COL5A2):c.1535T>C (p.Val512Ala)SNV Benign/Likely benign 136941 rs35852101 2:189931144-189931144 2:189066418-189066418
407 COL5A2 NM_000393.5(COL5A2):c.2032-7G>ASNV Benign/Likely benign 136943 rs141571092 2:189925516-189925516 2:189060790-189060790
408 COL5A2 NM_000393.5(COL5A2):c.2498C>T (p.Pro833Leu)SNV Benign/Likely benign 136944 rs116298748 2:189918622-189918622 2:189053896-189053896
409 COL5A2 NM_000393.5(COL5A2):c.2554-14A>GSNV Benign/Likely benign 136945 rs142429770 2:189917758-189917758 2:189053032-189053032
410 COL5A2 NM_000393.5(COL5A2):c.2562C>T (p.Asp854=)SNV Benign/Likely benign 136946 rs148430780 2:189917736-189917736 2:189053010-189053010
411 COL5A2 NM_000393.5(COL5A2):c.3098C>T (p.Pro1033Leu)SNV Benign/Likely benign 136949 rs75542756 2:189914122-189914122 2:189049396-189049396
412 COL5A2 NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg)SNV Benign/Likely benign 136952 rs62184175 2:189904234-189904234 2:189039508-189039508
413 COL5A2 NM_000393.5(COL5A2):c.3690A>C (p.Thr1230=)SNV Benign/Likely benign 136953 rs10197596 2:189904233-189904233 2:189039507-189039507
414 COL5A2 NM_000393.5(COL5A2):c.3720T>C (p.Tyr1240=)SNV Benign/Likely benign 136954 rs10208525 2:189904203-189904203 2:189039477-189039477
415 COL5A2 NM_000393.5(COL5A2):c.4389A>G (p.Glu1463=)SNV Benign/Likely benign 136957 rs146100075 2:189898907-189898907 2:189034181-189034181
416 COL1A2 NM_000089.3(COL1A2):c.3849T>C (p.Thr1283=)SNV Benign/Likely benign 360974 rs34038163 7:94058637-94058637 7:94429325-94429325
417 COL1A1 NM_000088.3(COL1A1):c.2613+14G>ASNV Benign/Likely benign 324107 rs41316685 17:48267206-48267206 17:50189845-50189845
418 COL1A1 NM_000088.3(COL1A1):c.3459T>C (p.Asp1153=)SNV Benign/Likely benign 324100 rs1800218 17:48264448-48264448 17:50187087-50187087
419 COL1A1 NM_000088.3(COL1A1):c.298+7C>ASNV Benign/Likely benign 324120 rs41317345 17:48277107-48277107 17:50199746-50199746
420 COL1A2 NM_000089.3(COL1A2):c.*194C>TSNV Benign 360976 rs1060399 7:94059899-94059899 7:94430587-94430587
421 COL5A1 NM_001278074.1(COL5A1):c.*267C>TSNV Benign 365746 rs12722 9:137734416-137734416 9:134842570-134842570
422 COL5A1 NM_001278074.1(COL5A1):c.*2501T>CSNV Benign 365795 rs3128575 9:137736650-137736650 9:134844804-134844804
423 COL5A1 NM_001278074.1(COL5A1):c.*1125A>TSNV Benign 365769 rs1134170 9:137735274-137735274 9:134843428-134843428
424 COL5A1 NM_001278074.1(COL5A1):c.4482G>C (p.Pro1494=)SNV Benign 136900 rs2228560 9:137711997-137711997 9:134820151-134820151
425 COL5A1 NM_001278074.1(COL5A1):c.1092C>T (p.Pro364=)SNV Benign 136927 rs41306391 9:137622249-137622249 9:134730403-134730403
426 COL5A1 NM_001278074.1(COL5A1):c.1431G>A (p.Ala477=)SNV Benign 136930 rs61729545 9:137630361-137630361 9:134738515-134738515
427 COL5A1 NM_001278074.1(COL5A1):c.1432-5T>CSNV Benign 136931 rs3128612 9:137630587-137630587 9:134738741-134738741
428 COL5A1 NM_001278074.1(COL5A1):c.2952+11A>TSNV Benign 136877 rs4240707 9:137690318-137690318 9:134798472-134798472
429 COL5A1 NM_001278074.1(COL5A1):c.738C>T (p.Thr246=)SNV Benign 136922 rs3124299 9:137619195-137619195 9:134727349-134727349
430 COL5A1 NM_001278074.1(COL5A1):c.4176+9T>GSNV Benign 136891 rs10858282 9:137708934-137708934 9:134817088-134817088
431 COL1A2 NM_000089.3(COL1A2):c.87T>C (p.Thr29=)SNV Benign 196205 rs1801182 7:94027699-94027699 7:94398387-94398387
432 COL1A2 NM_000089.3(COL1A2):c.246T>C (p.Asp82=)SNV Benign 254955 rs1800222 7:94030899-94030899 7:94401587-94401587
433 COL1A2 NM_000089.3(COL1A2):c.936+14C>TSNV Benign 254957 rs42518 7:94038934-94038934 7:94409622-94409622
434 COL1A2 NM_000089.3(COL1A2):c.937-3C>TSNV Benign 254958 rs42519 7:94039032-94039032 7:94409720-94409720
435 COL1A2 NM_000089.3(COL1A2):c.1446A>C (p.Pro482=)SNV Benign 254952 rs412777 7:94041937-94041937 7:94412625-94412625
436 COL1A2 NM_000089.3(COL1A2):c.1645C>G (p.Pro549Ala)SNV Benign 254953 rs42524 7:94043239-94043239 7:94413927-94413927
437 COL1A2 NM_000089.3(COL1A2):c.1665+15A>GSNV Benign 254954 rs421587 7:94043274-94043274 7:94413962-94413962
438 COL1A2 NM_000089.3(COL1A2):c.*654_*655insGTTGTCCinsertion Benign 360983 rs3917 7:94060359-94060360 7:94431047-94431048
439 COL1A2 NM_000089.3(COL1A2):c.1878G>T (p.Val626=)SNV Benign 360958 rs1800238 7:94047050-94047050 7:94417738-94417738
440 COL5A1 NM_001278074.1(COL5A1):c.*1086_*1089ATCT[1]short repeat Benign 365768 rs16399 9:137735239-137735242 9:134843393-134843396
441 COL5A1 NM_001278074.1(COL5A1):c.*83C>TSNV Benign 365741 rs13946 9:137734232-137734232 9:134842386-134842386
442 COL5A1 NM_001278074.1(COL5A1):c.-247T>GSNV Benign 365701 rs71483234 9:137533787-137533787 9:134641941-134641941
443 COL5A1 NM_001278074.1(COL5A1):c.*870_*873dupduplication Benign 365764 rs10628678 9:137735019-137735022 9:134843173-134843176
444 COL5A1 NM_001278074.1(COL5A1):c.*894T>CSNV Benign 365765 rs11103544 9:137735043-137735043 9:134843197-134843197
445 COL5A1 NM_001278074.1(COL5A1):c.*733C>ASNV Benign 365760 rs3196378 9:137734882-137734882 9:134843036-134843036
446 COL5A1 NM_001278074.1(COL5A1):c.*2395G>TSNV Benign 365791 rs4504708 9:137736544-137736544 9:134844698-134844698

Expression for Ehlers-Danlos Syndrome, Arthrochalasia Type, 1

Search GEO for disease gene expression data for Ehlers-Danlos Syndrome, Arthrochalasia Type, 1.

Pathways for Ehlers-Danlos Syndrome, Arthrochalasia Type, 1

Pathways related to Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 according to GeneCards Suite gene sharing:

(showing 1, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.64 COL1A1 ALB

GO Terms for Ehlers-Danlos Syndrome, Arthrochalasia Type, 1

Cellular components related to Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 8.62 COL1A1 ALB

Sources for Ehlers-Danlos Syndrome, Arthrochalasia Type, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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