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Items: 1 to 100 of 197

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr7:94034206
GRCh38:
Chr7:94404894
COL1A2Ehlers-Danlos syndrome, cardiac valvular type, Osteogenesis imperfecta, recessive perinatal lethal, Osteogenesis imperfecta type III,
Ehlers-Danlos syndrome, arthrochalasis type, Osteogenesis imperfecta with normal sclerae, dominant form, Postmenopausal osteoporosis
Likely pathogenic
(Mar 11, 2021)		criteria provided, single submitter
2.
GRCh37:
Chr17:48271492
GRCh38:
Chr17:50194131
COL1A1P556fsOsteogenesis imperfecta, recessive perinatal lethal, Osteogenesis imperfecta type III, Osteogenesis imperfecta type I,
Infantile cortical hyperostosis, Ehlers-Danlos syndrome, arthrochalasis type, Osteogenesis imperfecta with normal sclerae, dominant form,
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1, Osteoporosis, Osteogenesis imperfecta type I
Pathogenic
(Jun 30, 2022)		criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr17:48273886
GRCh38:
Chr17:50196525
COL1A1, LOC126862586E288KOsteogenesis imperfecta type I, not providedUncertain significance
(Apr 3, 2023)		criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr17:48272818
GRCh38:
Chr17:50195457
COL1A1Q393*Osteogenesis imperfecta type I, not provided, Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1,
Osteoporosis, Osteogenesis imperfecta with normal sclerae, dominant form, Osteogenesis imperfecta, recessive perinatal lethal,
Osteogenesis imperfecta type III, Infantile cortical hyperostosis, Ehlers-Danlos syndrome, arthrochalasis type,
Osteogenesis imperfecta type I		Pathogenic/Likely pathogenic
(Jan 14, 2022)		criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr17:48263414
GRCh38:
Chr17:50186053
COL1A1not specified, Osteogenesis imperfecta type I, not provided,
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1, Osteoporosis, Osteogenesis imperfecta with normal sclerae, dominant form,
Osteogenesis imperfecta, recessive perinatal lethal, Osteogenesis imperfecta type III, Infantile cortical hyperostosis,
Ehlers-Danlos syndrome, arthrochalasis type, Osteogenesis imperfecta type I ...see more		Benign/Likely benign
(Jul 6, 2022)		criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr17:48277124
GRCh38:
Chr17:50199763
COL1A1D97fsEhlers-Danlos syndrome, arthrochalasis type, Osteoporosis, Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1,
Osteogenesis imperfecta, recessive perinatal lethal, Osteogenesis imperfecta type III, Infantile cortical hyperostosis,
Osteogenesis imperfecta with normal sclerae, dominant form, Osteogenesis imperfecta type I, Cardiovascular phenotype,
Osteogenesis imperfecta type I		Pathogenic
(Nov 17, 2021)		criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr7:94054510
GRCh38:
Chr7:94425198
COL1A2G919SCardiovascular phenotype, Osteogenesis imperfecta type I, Ehlers-Danlos syndrome, classic type, 1,
not provided		Pathogenic/Likely pathogenic
(Aug 17, 2023)		criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr17:48264372
GRCh38:
Chr17:50187011
COL1A1Osteogenesis imperfecta type I, Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1, Osteogenesis imperfecta type I,
Osteogenesis imperfecta with normal sclerae, dominant form, Osteogenesis imperfecta, recessive perinatal lethal, Osteogenesis imperfecta type III,
Infantile cortical hyperostosis, Ehlers-Danlos syndrome, arthrochalasis type, Osteoporosis
Uncertain significance
(Sep 19, 2022)		criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr7:94056566
GRCh38:
Chr7:94427254
COL1A2P1076SEhlers-Danlos syndrome, arthrochalasis type, not provided, Ehlers-Danlos syndrome, classic type, 1,
Osteogenesis imperfecta type I		Uncertain significance
(Sep 29, 2023)		criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr17:48276673
GRCh38:
Chr17:50199312
COL1A1P129Snot provided, Osteogenesis imperfecta type IUncertain significance
(Sep 1, 2021)		criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr17:48263320
GRCh38:
Chr17:50185959
COL1A1R1356HOsteogenesis imperfecta type I, not providedUncertain significance
(Apr 9, 2022)		criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr17:48261836
GRCh38:
Chr17:50184475
COL1A1Infantile cortical hyperostosis, Ehlers-Danlos syndrome, arthrochalasis type, Osteogenesis imperfecta,
not provided		Conflicting interpretations of pathogenicity
(May 11, 2021)		criteria provided, conflicting interpretations
13.
GRCh37:
Chr17:48274356
GRCh38:
Chr17:50196995
COL1A1, LOC126862586Osteogenesis imperfecta, Infantile cortical hyperostosis, Ehlers-Danlos syndrome, arthrochalasis type
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
14.
GRCh37:
Chr17:48265471
GRCh38:
Chr17:50188110
COL1A1A1083TOsteogenesis imperfecta type I, Osteogenesis imperfecta, Ehlers-Danlos syndrome, arthrochalasis type,
Cardiovascular phenotype, Infantile cortical hyperostosis		Conflicting interpretations of pathogenicity
(Jul 25, 2023)		criteria provided, conflicting interpretations
15.
GRCh37:
Chr17:48264060
GRCh38:
Chr17:50186699
COL1A1R1252HOsteogenesis imperfecta type I, Ehlers-Danlos syndrome, arthrochalasis type, not provided,
Cardiovascular phenotype, Ehlers-Danlos syndrome, Infantile cortical hyperostosis,
Osteogenesis imperfecta		Conflicting interpretations of pathogenicity
(Aug 7, 2023)		criteria provided, conflicting interpretations
16.
GRCh37:
Chr17:48262743
GRCh38:
Chr17:50185382
COL1A1Ehlers-Danlos syndrome, arthrochalasis type, Infantile cortical hyperostosis, Osteogenesis imperfecta
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
17.
GRCh37:
Chr17:48263878
GRCh38:
Chr17:50186517
COL1A1Ehlers-Danlos syndrome, arthrochalasis type, Infantile cortical hyperostosis, Osteogenesis imperfecta,
Osteogenesis imperfecta type I		Conflicting interpretations of pathogenicity
(Jul 26, 2022)		criteria provided, conflicting interpretations
18.
GRCh37:
Chr17:48262982
GRCh38:
Chr17:50185621
COL1A1V1426MEhlers-Danlos syndrome, arthrochalasis type, Infantile cortical hyperostosis, Osteogenesis imperfecta
Conflicting interpretations of pathogenicity
(Jan 12, 2018)		criteria provided, conflicting interpretations
19.
GRCh37:
Chr17:48262578
GRCh38:
Chr17:50185217
COL1A1Ehlers-Danlos syndrome, arthrochalasis type, Infantile cortical hyperostosis, Osteogenesis imperfecta
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
20.
GRCh37:
Chr17:48261775
GRCh38:
Chr17:50184414
COL1A1not provided, Ehlers-Danlos syndrome, arthrochalasis type, Infantile cortical hyperostosis,
Osteogenesis imperfecta		Benign/Likely benign
(Oct 9, 2021)		criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr17:48261712
GRCh38:
Chr17:50184351
COL1A1Ehlers-Danlos syndrome, arthrochalasis type, Infantile cortical hyperostosis, Osteogenesis imperfecta
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
22.
GRCh37:
Chr17:48278972
GRCh38:
Chr17:50201611
COL1A1not provided, Ehlers-Danlos syndrome, arthrochalasis type, Infantile cortical hyperostosis,
Osteogenesis imperfecta		Conflicting interpretations of pathogenicity
(Jul 7, 2020)		criteria provided, conflicting interpretations
23.
GRCh37:
Chr17:48272620
GRCh38:
Chr17:50195259
COL1A1Osteogenesis imperfecta type I, Cardiovascular phenotype, Ehlers-Danlos syndrome, arthrochalasis type,
Infantile cortical hyperostosis, Osteogenesis imperfecta		Conflicting interpretations of pathogenicity
(May 13, 2023)		criteria provided, conflicting interpretations
24.
GRCh37:
Chr17:48266771
GRCh38:
Chr17:50189410
COL1A1Osteogenesis imperfecta type I, Ehlers-Danlos syndrome, arthrochalasis type, Infantile cortical hyperostosis,
Osteogenesis imperfecta		Uncertain significance
(Aug 9, 2022)		criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr17:48278931
GRCh38:
Chr17:50201570
COL1A1Ehlers-Danlos syndrome, arthrochalasis type, Infantile cortical hyperostosis, Osteogenesis imperfecta
Conflicting interpretations of pathogenicity
(Apr 27, 2017)		criteria provided, conflicting interpretations
26.
GRCh37:
Chr17:48273323
GRCh38:
Chr17:50195962
COL1A1Ehlers-Danlos syndrome, arthrochalasis type, Osteogenesis imperfecta type I, Cardiovascular phenotype,
Infantile cortical hyperostosis, Osteogenesis imperfecta, not provided
Conflicting interpretations of pathogenicity
(Jun 23, 2021)		criteria provided, conflicting interpretations
27.
GRCh37:
Chr17:48268201
GRCh38:
Chr17:50190840
COL1A1P774AEhlers-Danlos syndrome, arthrochalasis type, Osteogenesis imperfecta, Infantile cortical hyperostosis
Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
28.
GRCh37:
Chr17:48263696
GRCh38:
Chr17:50186335
COL1A1Osteogenesis imperfecta type I, Ehlers-Danlos syndrome, arthrochalasis type, Osteogenesis imperfecta,
Infantile cortical hyperostosis		Uncertain significance
(Dec 6, 2021)		criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr17:48262521
GRCh38:
Chr17:50185160
COL1A1Ehlers-Danlos syndrome, arthrochalasis type, Osteogenesis imperfecta, Infantile cortical hyperostosis
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
30.
GRCh37:
Chr17:48262507
GRCh38:
Chr17:50185146
COL1A1Ehlers-Danlos syndrome, arthrochalasis type, Osteogenesis imperfecta, Infantile cortical hyperostosis
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
31.
GRCh37:
Chr17:48262027
GRCh38:
Chr17:50184666
COL1A1Osteogenesis imperfecta, Ehlers-Danlos syndrome, arthrochalasis type, Infantile cortical hyperostosis
Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
32.
GRCh37:
Chr17:48267715
GRCh38:
Chr17:50190354
COL1A1Osteogenesis imperfecta type I, Cardiovascular phenotype, Osteogenesis imperfecta,
Ehlers-Danlos syndrome, arthrochalasis type, Infantile cortical hyperostosis		Conflicting interpretations of pathogenicity
(Sep 23, 2022)		criteria provided, conflicting interpretations
33.
GRCh37:
Chr17:48264196
GRCh38:
Chr17:50186835
COL1A1E1207KCardiovascular phenotype, Osteogenesis imperfecta, Ehlers-Danlos syndrome, arthrochalasis type,
Infantile cortical hyperostosis		Conflicting interpretations of pathogenicity
(Dec 22, 2021)		criteria provided, conflicting interpretations
34.
GRCh37:
Chr17:48262790
GRCh38:
Chr17:50185429
COL1A1Ehlers-Danlos syndrome, arthrochalasis type, Infantile cortical hyperostosis, Osteogenesis imperfecta
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
35.
GRCh37:
Chr17:48262775
GRCh38:
Chr17:50185414
COL1A1Ehlers-Danlos syndrome, arthrochalasis type, Osteogenesis imperfecta, Infantile cortical hyperostosis
Benign/Likely benign
(Mar 8, 2018)		criteria provided, single submitter
36.
GRCh37:
Chr17:48262770
GRCh38:
Chr17:50185409
COL1A1Osteogenesis imperfecta, Ehlers-Danlos syndrome, arthrochalasis type, Infantile cortical hyperostosis
Conflicting interpretations of pathogenicity
(Jan 12, 2018)		criteria provided, conflicting interpretations
37.
GRCh37:
Chr17:48262361
GRCh38:
Chr17:50185000
COL1A1Osteogenesis imperfecta, Ehlers-Danlos syndrome, arthrochalasis type, Infantile cortical hyperostosis
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
38.
GRCh37:
Chr17:48262315
GRCh38:
Chr17:50184954
COL1A1Osteogenesis imperfecta, Ehlers-Danlos syndrome, arthrochalasis type, Infantile cortical hyperostosis
Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
39.
GRCh37:
Chr17:48262026
GRCh38:
Chr17:50184665
COL1A1Osteogenesis imperfecta, Ehlers-Danlos syndrome, arthrochalasis type, Infantile cortical hyperostosis
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
40.
GRCh37:
Chr17:48261852
GRCh38:
Chr17:50184491
COL1A1Osteogenesis imperfecta, not provided, Ehlers-Danlos syndrome, arthrochalasis type,
Infantile cortical hyperostosis		Conflicting interpretations of pathogenicity
(May 10, 2021)		criteria provided, conflicting interpretations
41.
GRCh37:
Chr17:48261547
GRCh38:
Chr17:50184186
COL1A1Ehlers-Danlos syndrome, arthrochalasis type, Infantile cortical hyperostosis, Osteogenesis imperfecta
Uncertain significance
(Mar 30, 2018)		criteria provided, single submitter
42.
GRCh37:
Chr17:48273295
GRCh38:
Chr17:50195934
COL1A1V349FOsteogenesis imperfecta, Osteogenesis imperfecta type I, Ehlers-Danlos syndrome, arthrochalasis type,
Infantile cortical hyperostosis		Conflicting interpretations of pathogenicity
(May 17, 2022)		criteria provided, conflicting interpretations
43.
GRCh37:
Chr17:48272916
GRCh38:
Chr17:50195555
COL1A1Osteogenesis imperfecta, Osteogenesis imperfecta type I, Ehlers-Danlos syndrome, arthrochalasis type,
Infantile cortical hyperostosis		Conflicting interpretations of pathogenicity
(Apr 6, 2021)		criteria provided, conflicting interpretations
44.
GRCh37:
Chr17:48271770
GRCh38:
Chr17:50194409
COL1A1Ehlers-Danlos syndrome, arthrochalasis type, Osteogenesis imperfecta, Infantile cortical hyperostosis
Uncertain significance
(Apr 28, 2017)		criteria provided, single submitter
45.
GRCh37:
Chr17:48271558
GRCh38:
Chr17:50194197
COL1A1Osteogenesis imperfecta, Osteogenesis imperfecta type I, Ehlers-Danlos syndrome, arthrochalasis type,
Infantile cortical hyperostosis		Conflicting interpretations of pathogenicity
(Jan 21, 2022)		criteria provided, conflicting interpretations
46.
GRCh37:
Chr17:48271957
GRCh38:
Chr17:50194596
COL1A1A498Tnot provided, Cardiovascular phenotype, Ehlers-Danlos syndrome, arthrochalasis type,
Osteogenesis imperfecta, Infantile cortical hyperostosis, Osteogenesis imperfecta type I
Uncertain significance
(Aug 26, 2021)		criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr17:48277749
GRCh38:
Chr17:50200388
COL1A1Osteogenesis imperfecta, recessive perinatal lethal, Osteogenesis imperfecta with normal sclerae, dominant form, Osteogenesis imperfecta type III,
Osteogenesis imperfecta type I, Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1, Osteoporosis,
Infantile cortical hyperostosis, Ehlers-Danlos syndrome, arthrochalasis type, Osteogenesis imperfecta type I,
not specified		Benign/Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr17:48264259
GRCh38:
Chr17:50186898
COL1A1P1186Anot provided, Ehlers-Danlos syndrome, arthrochalasis type, Osteogenesis imperfecta type I
Conflicting interpretations of pathogenicity
(Aug 16, 2022)		criteria provided, conflicting interpretations
49.
GRCh37:
Chr17:48263190
GRCh38:
Chr17:50185829
COL1A1Osteogenesis imperfecta, Infantile cortical hyperostosis, Cardiovascular phenotype,
Osteogenesis imperfecta type I, Ehlers-Danlos syndrome, arthrochalasis type		Conflicting interpretations of pathogenicity
(Sep 13, 2022)		criteria provided, conflicting interpretations
50.
GRCh37:
Chr17:48265273
GRCh38:
Chr17:50187912
COL1A1Infantile cortical hyperostosis, Cardiovascular phenotype, Osteogenesis imperfecta type I,
Osteogenesis imperfecta, Ehlers-Danlos syndrome, arthrochalasis type		Conflicting interpretations of pathogenicity
(Jul 1, 2022)		criteria provided, conflicting interpretations
51.
GRCh37:
Chr17:48276596
GRCh38:
Chr17:50199235
COL1A1Infantile cortical hyperostosis, Cardiovascular phenotype, not provided,
Ehlers-Danlos syndrome, arthrochalasis type, Osteogenesis imperfecta type I, Osteogenesis imperfecta
Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
52.
GRCh37:
Chr17:48268811
GRCh38:
Chr17:50191450
COL1A1A723VOsteogenesis imperfecta, Ehlers-Danlos syndrome, arthrochalasis type, Osteogenesis imperfecta type I,
Infantile cortical hyperostosis		Conflicting interpretations of pathogenicity
(Apr 13, 2021)		criteria provided, conflicting interpretations
53.
GRCh37:
Chr17:48273665
GRCh38:
Chr17:50196304
COL1A1Ehlers-Danlos syndrome, Osteogenesis imperfecta type I, Ehlers-Danlos syndrome, arthrochalasis type,
Osteogenesis imperfecta, Infantile cortical hyperostosis		Benign/Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr17:48265328
GRCh38:
Chr17:50187967
COL1A1R1093HCardiovascular phenotype, Osteogenesis imperfecta type I, Osteogenesis imperfecta,
Ehlers-Danlos syndrome, arthrochalasis type, not provided, Infantile cortical hyperostosis
Conflicting interpretations of pathogenicity
(Aug 17, 2022)		criteria provided, conflicting interpretations
55.
GRCh37:
Chr17:48268813
GRCh38:
Chr17:50191452
COL1A1Osteogenesis imperfecta type I, not provided, Cardiovascular phenotype,
Osteogenesis imperfecta with normal sclerae, dominant form, Infantile cortical hyperostosis, Osteoporosis,
Osteogenesis imperfecta, recessive perinatal lethal, Osteogenesis imperfecta type III, Ehlers-Danlos syndrome, arthrochalasis type,
Osteogenesis imperfecta type I, Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 ...see more		Likely benign
(Oct 8, 2022)		criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr17:48275489
GRCh38:
Chr17:50198128
COL1A1not provided, Osteogenesis imperfecta type I, Osteogenesis imperfecta, recessive perinatal lethal,
Osteogenesis imperfecta type III, Ehlers-Danlos syndrome, arthrochalasis type, Osteogenesis imperfecta with normal sclerae, dominant form
Benign
(Jul 22, 2021)		criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr17:48263903
GRCh38:
Chr17:50186542
COL1A1Osteogenesis imperfecta type I, Osteogenesis imperfecta, recessive perinatal lethal, Osteogenesis imperfecta type III,
Ehlers-Danlos syndrome, arthrochalasis type, Osteogenesis imperfecta with normal sclerae, dominant form, not provided
Benign
(Jul 22, 2021)		criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr17:48265426
GRCh38:
Chr17:50188065
COL1A1Osteogenesis imperfecta type I, Osteogenesis imperfecta, recessive perinatal lethal, Osteogenesis imperfecta type III,
Osteogenesis imperfecta with normal sclerae, dominant form, Ehlers-Danlos syndrome, arthrochalasis type, not provided
Benign
(Jul 22, 2021)		criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr17:48266669
GRCh38:
Chr17:50189308
COL1A1Osteogenesis imperfecta, recessive perinatal lethal, Osteogenesis imperfecta type III, Osteogenesis imperfecta with normal sclerae, dominant form,
Ehlers-Danlos syndrome, arthrochalasis type, not provided, Osteogenesis imperfecta type I
Benign
(Jul 22, 2021)		criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr17:48269302
GRCh38:
Chr17:50191941
COL1A1Osteogenesis imperfecta, recessive perinatal lethal, Osteogenesis imperfecta with normal sclerae, dominant form, Osteogenesis imperfecta type III,
Ehlers-Danlos syndrome, arthrochalasis type, not provided, Osteogenesis imperfecta type I
Benign
(Jul 22, 2021)		criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr17:48269426
GRCh38:
Chr17:50192065
COL1A1Osteogenesis imperfecta type I, Osteogenesis imperfecta, recessive perinatal lethal, Osteogenesis imperfecta type III,
Osteogenesis imperfecta with normal sclerae, dominant form, Ehlers-Danlos syndrome, arthrochalasis type, not provided
Benign
(Jul 22, 2021)		criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr17:48266307
GRCh38:
Chr17:50188946
COL1A1G1001fsEhlers-Danlos syndrome, arthrochalasis type, Osteogenesis imperfecta type IPathogenic/Likely pathogenic
(Feb 5, 2022)		criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr17:48278798
GRCh38:
Chr17:50201437
COL1A1G26Dnot provided, Ehlers-Danlos syndrome, arthrochalasis type, Ehlers-Danlos syndrome,
Osteogenesis imperfecta, Infantile cortical hyperostosis, Osteogenesis imperfecta type I
Conflicting interpretations of pathogenicity
(Jun 1, 2023)		criteria provided, conflicting interpretations
64.
GRCh37:
Chr17:48263689
GRCh38:
Chr17:50186328
COL1A1D1332NOsteogenesis imperfecta, recessive perinatal lethal, Osteogenesis imperfecta type III, Infantile cortical hyperostosis,
Ehlers-Danlos syndrome, arthrochalasis type, Ehlers-Danlos syndrome, classic type, 1, Osteogenesis imperfecta with normal sclerae, dominant form,
Postmenopausal osteoporosis, Osteogenesis imperfecta type I, Cardiovascular phenotype,
Osteogenesis imperfecta type I		Conflicting interpretations of pathogenicity
(Oct 19, 2022)		criteria provided, conflicting interpretations
65.
GRCh37:
Chr17:48266621
GRCh38:
Chr17:50189260
COL1A1P949SOsteogenesis imperfecta type ILikely benign
(Sep 22, 2022)		criteria provided, single submitter
66.
GRCh37:
Chr17:48272790
GRCh38:
Chr17:50195429
COL1A1not provided, Osteogenesis imperfecta type I, Cardiovascular phenotype,
Osteogenesis imperfecta with normal sclerae, dominant form, Infantile cortical hyperostosis, Osteogenesis imperfecta, recessive perinatal lethal,
Osteogenesis imperfecta type III, Ehlers-Danlos syndrome, arthrochalasis type, Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1,
Osteoporosis, Osteogenesis imperfecta type I ...see more		Uncertain significance
(Sep 11, 2023)		criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr7:94039551
GRCh38:
Chr7:94410239
COL1A2Connective tissue disorder, not provided, Osteogenesis imperfecta type I,
Ehlers-Danlos syndrome, classic type, 1		Conflicting interpretations of pathogenicity
(Aug 31, 2022)		criteria provided, conflicting interpretations
68.
GRCh37:
Chr17:48264235
GRCh38:
Chr17:50186874
COL1A1A1194TConnective tissue disorder, Osteogenesis imperfecta type I, Osteogenesis imperfecta,
Infantile cortical hyperostosis, not provided, Ehlers-Danlos syndrome, arthrochalasis type
Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
69.
GRCh37:
Chr17:48275353
GRCh38:
Chr17:50197992
COL1A1G200VOsteogenesis imperfecta type I, not provided, Ehlers-Danlos syndrome, arthrochalasis type
Pathogenic/Likely pathogenic
(Sep 1, 2021)		criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr17:48277161
GRCh38:
Chr17:50199800
COL1A1A84Gnot provided, Ehlers-Danlos syndrome, arthrochalasis type, Infantile cortical hyperostosis,
Cardiovascular phenotype, Osteogenesis imperfecta type I, Osteogenesis imperfecta
Conflicting interpretations of pathogenicity
(May 22, 2023)		criteria provided, conflicting interpretations
71.
GRCh37:
Chr17:48270043
GRCh38:
Chr17:50192682
COL1A1Cardiovascular phenotype, not specified, Osteogenesis imperfecta type I,
Osteogenesis imperfecta with normal sclerae, dominant form, Osteogenesis imperfecta, recessive perinatal lethal, Osteogenesis imperfecta type III,
Ehlers-Danlos syndrome, arthrochalasis type, Osteogenesis imperfecta type I, Infantile cortical hyperostosis,
Osteoporosis, Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1Osteogenesis imperfecta,
...see more		Conflicting interpretations of pathogenicity
(Jun 15, 2022)		criteria provided, conflicting interpretations
72.
GRCh37:
Chr17:48268812
GRCh38:
Chr17:50191451
COL1A1A723TCardiovascular phenotype, not provided, Osteogenesis imperfecta,
Infantile cortical hyperostosis, Osteogenesis imperfecta type I, Ehlers-Danlos syndrome, arthrochalasis type
Conflicting interpretations of pathogenicity
(Oct 19, 2022)		criteria provided, conflicting interpretations
73.
GRCh37:
Chr17:48275383
GRCh38:
Chr17:50198022
COL1A1Infantile cortical hyperostosis, Osteogenesis imperfecta with normal sclerae, dominant form, Osteogenesis imperfecta, recessive perinatal lethal,
Osteogenesis imperfecta type III, Ehlers-Danlos syndrome, arthrochalasis type, Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1,
Osteogenesis imperfecta type I, Osteoporosis, not specified,
Osteogenesis imperfecta type I		Likely benign
(Jul 30, 2022)		criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr17:48272069
GRCh38:
Chr17:50194708
COL1A1not provided, not specified, Osteogenesis imperfecta,
Infantile cortical hyperostosis, Osteogenesis imperfecta type I, Ehlers-Danlos syndrome, arthrochalasis type
Conflicting interpretations of pathogenicity
(Oct 25, 2022)		criteria provided, conflicting interpretations
75.
GRCh37:
Chr17:48267207
GRCh38:
Chr17:50189846
COL1A1not specified, Osteogenesis imperfecta, Osteogenesis imperfecta type I,
Ehlers-Danlos syndrome, arthrochalasis type, not provided, Infantile cortical hyperostosis
Benign/Likely benign
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr17:48274529
GRCh38:
Chr17:50197168
COL1A1, LOC126862586Osteogenesis imperfecta type I, not specified, not provided,
Osteogenesis imperfecta, Infantile cortical hyperostosis, Ehlers-Danlos syndrome, arthrochalasis type
Benign/Likely benign
(Oct 30, 2022)		criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr17:48275866
GRCh38:
Chr17:50198505
COL1A1Ehlers-Danlos syndrome, arthrochalasis type, not providedPathogenic
(Jan 3, 2022)		criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr17:48264412
GRCh38:
Chr17:50187051
COL1A1G1166fsnot provided, Osteogenesis imperfecta type I, Infantile cortical hyperostosis,
Ehlers-Danlos syndrome, arthrochalasis type, Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1, Osteogenesis imperfecta type I,
Osteoporosis, Osteogenesis imperfecta with normal sclerae, dominant form, Osteogenesis imperfecta, recessive perinatal lethal,
Osteogenesis imperfecta type III		Pathogenic
(Jul 23, 2022)		criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr17:48264845
GRCh38:
Chr17:50187484
COL1A1Cardiovascular phenotype, Ehlers-Danlos syndrome, arthrochalasis type, Osteogenesis imperfecta,
Osteogenesis imperfecta type I, Ehlers-Danlos syndrome, Infantile cortical hyperostosis
Conflicting interpretations of pathogenicity
(Oct 23, 2022)		criteria provided, conflicting interpretations
80.
GRCh37:
Chr17:48267063
GRCh38:
Chr17:50189702
COL1A1R882*Osteogenesis imperfecta type I, not provided, Osteogenesis imperfecta
Pathogenic
(Nov 11, 2023)		criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr17:48267231
GRCh38:
Chr17:50189870
COL1A1A868Tnot provided, Cardiovascular phenotype, Osteogenesis imperfecta type I,
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1, Osteogenesis imperfecta type III, Ehlers-Danlos syndrome, arthrochalasis type,
Osteogenesis imperfecta, recessive perinatal lethal, Osteogenesis imperfecta type I, Osteoporosis,
Osteogenesis imperfecta with normal sclerae, dominant form, Infantile cortical hyperostosis ...see more		Conflicting interpretations of pathogenicity
(Feb 2, 2023)		criteria provided, conflicting interpretations
82.
GRCh37:
Chr17:48272623
GRCh38:
Chr17:50195262
COL1A1Cardiovascular phenotype, Ehlers-Danlos syndrome, Osteogenesis imperfecta,
Ehlers-Danlos syndrome, arthrochalasis type, Infantile cortical hyperostosis, not provided,
Osteogenesis imperfecta type I		Conflicting interpretations of pathogenicity
(Oct 24, 2022)		criteria provided, conflicting interpretations
83.
GRCh37:
Chr17:48272827
GRCh38:
Chr17:50195466
COL1A1A390Tnot provided, Osteogenesis imperfecta type I, not specified,
Cardiovascular phenotype, Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1, Osteogenesis imperfecta type III,
Ehlers-Danlos syndrome, arthrochalasis type, Osteogenesis imperfecta, recessive perinatal lethal, Osteogenesis imperfecta type I,
Osteoporosis, Osteogenesis imperfecta with normal sclerae, dominant formInfantile cortical hyperostosis,
Osteogenesis imperfecta, ...see more		Benign/Likely benign
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr17:48273533
GRCh38:
Chr17:50196172
COL1A1G329ROsteogenesis imperfecta type III, Ehlers-Danlos syndrome, arthrochalasis type, Postmenopausal osteoporosis,
Osteogenesis imperfecta, recessive perinatal lethal, Osteogenesis imperfecta type I, Osteogenesis imperfecta with normal sclerae, dominant form,
Infantile cortical hyperostosis, not provided		Pathogenic/Likely pathogenic
(Nov 9, 2018)		criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr17:48263191
GRCh38:
Chr17:50185830
COL1A1R1399HOsteogenesis imperfecta type III, Ehlers-Danlos syndrome, arthrochalasis type, Postmenopausal osteoporosis,
Osteogenesis imperfecta, recessive perinatal lethal, Osteogenesis imperfecta type I, Osteogenesis imperfecta with normal sclerae, dominant form,
Infantile cortical hyperostosis, Cardiovascular phenotype, not provided,
Osteogenesis imperfecta type I		Conflicting interpretations of pathogenicity
(Jan 20, 2023)		criteria provided, conflicting interpretations
86.
GRCh37:
Chr17:48276966
GRCh38:
Chr17:50199605
COL1A1Osteogenesis imperfecta, not specified, Ehlers-Danlos syndrome, arthrochalasis type,
Infantile cortical hyperostosis, not provided, Osteogenesis imperfecta type I
Conflicting interpretations of pathogenicity
(Oct 16, 2022)		criteria provided, conflicting interpretations
87.
GRCh37:
Chr17:48267939
GRCh38:
Chr17:50190578
COL1A1G788Snot provided, COL1A1-related condition, Osteogenesis imperfecta type I,
Ehlers-Danlos syndrome, arthrochalasis type, Osteogenesis imperfecta with normal sclerae, dominant form, Postmenopausal osteoporosis,
Infantile cortical hyperostosis, Osteogenesis imperfecta, recessive perinatal lethal, Osteogenesis imperfecta type III,
Osteogenesis imperfecta type I		Pathogenic
(May 16, 2023)		criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr17:48269827
GRCh38:
Chr17:50192466
COL1A1Ehlers-Danlos syndrome, not specified, Ehlers-Danlos syndrome, arthrochalasis type,
Osteogenesis imperfecta, Infantile cortical hyperostosis, Osteogenesis imperfecta type I
Benign/Likely benign
(Oct 24, 2022)		criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr17:48263673
GRCh38:
Chr17:50186312
COL1A1not provided, Osteogenesis imperfecta type III, Osteogenesis imperfecta type I,
Osteogenesis imperfecta, recessive perinatal lethal, Infantile cortical hyperostosis, Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1,
Ehlers-Danlos syndrome, arthrochalasis type, Osteogenesis imperfecta with normal sclerae, dominant form, Osteoporosis,
Ehlers-Danlos syndrome, not specifiedOsteogenesis imperfecta type I,
Cardiovascular phenotype, ...see more		Uncertain significance
(Sep 28, 2022)		criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr17:48274406
GRCh38:
Chr17:50197045
COL1A1, LOC126862586G257ROsteogenesis imperfecta type I, COL1A1-related condition, not provided,
Osteogenesis imperfecta, Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1, Osteogenesis imperfecta with normal sclerae, dominant form,
Infantile cortical hyperostosis, Osteogenesis imperfecta type I, Osteogenesis imperfecta, recessive perinatal lethal,
Osteogenesis imperfecta type III, Ehlers-Danlos syndrome, arthrochalasis typeOsteoporosis,
...see more		Pathogenic
(May 17, 2023)		criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr17:48272592
GRCh38:
Chr17:50195231
COL1A1not provided, Osteogenesis imperfecta with normal sclerae, dominant form, Infantile cortical hyperostosis,
Osteogenesis imperfecta type I, Osteogenesis imperfecta, recessive perinatal lethal, Osteogenesis imperfecta type III,
Ehlers-Danlos syndrome, arthrochalasis type, Postmenopausal osteoporosis, Osteogenesis imperfecta type I
Pathogenic
(Jul 29, 2022)		criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr17:48272649
GRCh38:
Chr17:50195288
COL1A1R415*Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1, Infantile cortical hyperostosis, Infantile cortical hyperostosis,
Osteogenesis imperfecta with normal sclerae, dominant form, Osteogenesis imperfecta type I, Osteogenesis imperfecta, recessive perinatal lethal,
Osteogenesis imperfecta type III, Ehlers-Danlos syndrome, arthrochalasis type, Osteoporosis,
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1, not providedOsteogenesis imperfecta type I,
...see more		Pathogenic
(Dec 2, 2022)		criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr17:48268177
GRCh38:
Chr17:50190816
COL1A1Osteogenesis imperfecta with normal sclerae, dominant form, Infantile cortical hyperostosis, Osteogenesis imperfecta type I,
Osteogenesis imperfecta, recessive perinatal lethal, Osteogenesis imperfecta type III, Ehlers-Danlos syndrome, arthrochalasis type,
Osteoporosis, Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1		Pathogenic
(Sep 20, 2021)		criteria provided, single submitter
94.
GRCh37:
Chr17:48270354
GRCh38:
Chr17:50192993
COL1A1Osteogenesis imperfecta with normal sclerae, dominant form, Postmenopausal osteoporosis, Infantile cortical hyperostosis,
Osteogenesis imperfecta type I, Osteogenesis imperfecta, recessive perinatal lethal, Osteogenesis imperfecta type III,
Ehlers-Danlos syndrome, arthrochalasis type, not provided, COL1A1-related condition,
Osteogenesis imperfecta, Osteogenesis imperfecta type I ...see more		Pathogenic
(Jul 13, 2023)		criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr17:48273271-48273272
GRCh38:
Chr17:50195910-50195911
COL1A1Osteogenesis imperfecta type I, not provided, Osteogenesis imperfecta with normal sclerae, dominant form,
Infantile cortical hyperostosis, Osteogenesis imperfecta type I, Osteogenesis imperfecta, recessive perinatal lethal,
Osteogenesis imperfecta type III, Ehlers-Danlos syndrome, arthrochalasis type, Osteoporosis,
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1		Benign/Likely benign
(Aug 24, 2022)		criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr17:48271380
GRCh38:
Chr17:50194019
COL1A1R564HCardiovascular phenotype, Ehlers-Danlos syndrome, Ehlers-Danlos syndrome, arthrochalasis type,
not provided, Infantile cortical hyperostosis, Osteogenesis imperfecta,
Osteogenesis imperfecta type I		Conflicting interpretations of pathogenicity
(Nov 4, 2022)		criteria provided, conflicting interpretations
97.
GRCh37:
Chr17:48272168
GRCh38:
Chr17:50194807
COL1A1P459TOsteogenesis imperfecta type I, Osteogenesis imperfecta with normal sclerae, dominant form, Postmenopausal osteoporosis,
Ehlers-Danlos syndrome, arthrochalasis type, Infantile cortical hyperostosis, Osteogenesis imperfecta type I,
Osteogenesis imperfecta, recessive perinatal lethal, Osteogenesis imperfecta type III, not provided
Uncertain significance
(Aug 27, 2021)		criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr17:48272643
GRCh38:
Chr17:50195282
COL1A1P417SEhlers-Danlos syndrome, not specified, Osteogenesis imperfecta type I,
Osteogenesis imperfecta, not provided, Ehlers-Danlos syndrome, arthrochalasis type,
Infantile cortical hyperostosis		Conflicting interpretations of pathogenicity
(May 16, 2023)		criteria provided, conflicting interpretations
99.
GRCh37:
Chr17:48275506
GRCh38:
Chr17:50198145
COL1A1not specified, not provided, Osteogenesis imperfecta with normal sclerae, dominant form,
Infantile cortical hyperostosis, Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1, Osteogenesis imperfecta, recessive perinatal lethal,
Osteogenesis imperfecta type III, Osteogenesis imperfecta type I, Osteoporosis,
Ehlers-Danlos syndrome, arthrochalasis type, Osteogenesis imperfecta type I ...see more		Benign/Likely benign
(Oct 26, 2022)		criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr17:48263206
GRCh38:
Chr17:50185845
COL1A1N1394SConnective tissue disorder, Cardiovascular phenotype, Ehlers-Danlos syndrome,
not provided, Ehlers-Danlos syndrome, arthrochalasis type, Osteogenesis imperfecta,
Infantile cortical hyperostosis, Osteogenesis imperfecta type I		Benign/Likely benign
(Nov 2, 2022)		criteria provided, multiple submitters, no conflicts
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