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Links from MedGen

Items: 1 to 100 of 180

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr17:48273336
GRCh38:
Chr17:50195975
COL1A1G335VOsteogenesis imperfecta, recessive perinatal lethalLikely pathogenic
(Apr 18, 2023)		criteria provided, single submitter
2.
GRCh37:
Chr17:48263706
GRCh38:
Chr17:50186345
COL1A1F1326COsteogenesis imperfecta, recessive perinatal lethalPathogenic
(Jun 4, 2021)		criteria provided, single submitter
3.
GRCh37:
Chr7:94054465
GRCh38:
Chr7:94425153
COL1A2G904ROsteogenesis imperfecta, recessive perinatal lethalLikely pathogenic
(Feb 3, 2023)		criteria provided, single submitter
4.
GRCh37:
Chr7:94042422
GRCh38:
Chr7:94413110
COL1A2G511COsteogenesis imperfecta, recessive perinatal lethalLikely pathogenic
(May 13, 2022)		criteria provided, single submitter
5.
GRCh37:
Chr17:48276953
GRCh38:
Chr17:50199592
COL1A1Osteogenesis imperfecta, recessive perinatal lethalPathogenic
(Jun 17, 2022)		criteria provided, single submitter
6.
GRCh37:
Chr17:48264473
GRCh38:
Chr17:50187112
COL1A1G1145VOsteogenesis imperfecta, recessive perinatal lethalLikely pathogenic
(Sep 13, 2021)		criteria provided, single submitter
7.
GRCh37:
Chr17:48270166
GRCh38:
Chr17:50192805
COL1A1G623SOsteogenesis imperfecta, recessive perinatal lethalLikely pathogeniccriteria provided, single submitter
8.
GRCh37:
Chr7:94056374
GRCh38:
Chr7:94427062
COL1A2Osteogenesis imperfecta type I, Ehlers-Danlos syndrome, classic type, 1Likely pathogenic
(Aug 8, 2022)		criteria provided, single submitter
9.
GRCh37:
Chr7:94042422
GRCh38:
Chr7:94413110
COL1A2G511SCombined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, Osteogenesis imperfecta type III, Osteogenesis imperfecta, recessive perinatal lethal,
Ehlers-danlos syndrome, arthrochalasia type, 2, Osteoporosis, Osteogenesis imperfecta with normal sclerae, dominant form
Pathogeniccriteria provided, single submitter
10.
GRCh37:
Chr7:94047037
GRCh38:
Chr7:94417725
COL1A2G622VOsteogenesis imperfecta, recessive perinatal lethalLikely pathogenicno assertion criteria provided
11.
GRCh37:
Chr7:94047072
GRCh38:
Chr7:94417760
COL1A2G634SOsteogenesis imperfecta, recessive perinatal lethalPathogenic
(May 4, 2022)		criteria provided, single submitter
12.
GRCh37:
Chr7:94040210
GRCh38:
Chr7:94410898
COL1A2G403ROsteogenesis imperfecta, Osteogenesis imperfecta, recessive perinatal lethalPathogenic
(May 4, 2022)		criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr7:94047810
GRCh38:
Chr7:94418498
COL1A2Osteogenesis imperfecta, recessive perinatal lethalLikely pathogenic
(May 4, 2022)		criteria provided, single submitter
14.
GRCh37:
Chr7:94040459
GRCh38:
Chr7:94411147
COL1A2G448EOsteogenesis imperfecta, recessive perinatal lethalLikely pathogenic
(Apr 30, 2021)		criteria provided, single submitter
15.
GRCh37:
Chr17:48272144
GRCh38:
Chr17:50194783
COL1A1G467ROsteogenesis imperfecta, recessive perinatal lethalLikely pathogenic
(Apr 11, 2022)		criteria provided, single submitter
16.
GRCh37:
Chr7:94034206
GRCh38:
Chr7:94404894
COL1A2Osteogenesis imperfecta type III, Ehlers-Danlos syndrome, cardiac valvular type, Ehlers-Danlos syndrome, arthrochalasis type,
Osteogenesis imperfecta with normal sclerae, dominant form, Postmenopausal osteoporosis, Osteogenesis imperfecta, recessive perinatal lethal
Likely pathogenic
(Mar 11, 2021)		criteria provided, single submitter
17.
GRCh37:
Chr7:94039812
GRCh38:
Chr7:94410500
COL1A2Ehlers-Danlos syndrome, classic type, 1, Osteogenesis imperfecta type I, Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2,
Osteogenesis imperfecta type III, Osteogenesis imperfecta, recessive perinatal lethal, Ehlers-Danlos syndrome, cardiac valvular type,
Osteogenesis imperfecta with normal sclerae, dominant form, Ehlers-danlos syndrome, arthrochalasia type, 2, Osteoporosis
Likely benign
(Oct 25, 2022)		criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr7:94055161
GRCh38:
Chr7:94425849
COL1A2G979ROsteogenesis imperfecta, recessive perinatal lethalLikely pathogenic
(Jan 1, 2022)		criteria provided, single submitter
19.
GRCh37:
Chr7:94049953
GRCh38:
Chr7:94420641
COL1A2G763DOsteogenesis imperfecta type I, Ehlers-Danlos syndrome, classic type, 1, Osteogenesis imperfecta, recessive perinatal lethal,
Osteogenesis imperfecta with normal sclerae, dominant form, Osteogenesis imperfecta type III		Pathogenic/Likely pathogenic
(Aug 26, 2021)		criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr17:48271492
GRCh38:
Chr17:50194131
COL1A1P556fsInfantile cortical hyperostosis, Ehlers-Danlos syndrome, arthrochalasis type, Osteogenesis imperfecta type I,
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1, Osteogenesis imperfecta with normal sclerae, dominant form, Osteogenesis imperfecta, recessive perinatal lethal,
Osteoporosis, Osteogenesis imperfecta type III, Osteogenesis imperfecta type I
Pathogenic
(Jun 30, 2022)		criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr7:94054466
GRCh38:
Chr7:94425154
COL1A2G904EOsteogenesis imperfecta, recessive perinatal lethalLikely pathogenic
(Feb 6, 2022)		criteria provided, single submitter
22.
GRCh37:
Chr7:94030935
GRCh38:
Chr7:94401623
COL1A2Osteogenesis imperfecta, recessive perinatal lethalLikely pathogenic
(Feb 6, 2022)		criteria provided, single submitter
23.
GRCh37:
Chr7:94030882
GRCh38:
Chr7:94401570
COL1A2F77fsOsteogenesis imperfecta, recessive perinatal lethalPathogenic
(Feb 6, 2022)		criteria provided, single submitter
24.
GRCh37:
Chr17:48268185
GRCh38:
Chr17:50190824
COL1A1G779VOsteogenesis imperfecta, recessive perinatal lethalLikely pathogenic
(Jan 29, 2022)		no assertion criteria provided
25.
GRCh37:
Chr17:48269220
GRCh38:
Chr17:50191859
COL1A1G686SOsteogenesis imperfecta, recessive perinatal lethalLikely pathogenic
(Jan 30, 2022)		no assertion criteria provided
26.
GRCh37:
Chr7:94043224
GRCh38:
Chr7:94413912
COL1A2G544COsteogenesis imperfecta, recessive perinatal lethalLikely pathogenic
(Jan 11, 2022)		no assertion criteria provided
27.
GRCh37:
Chr17:48272600
GRCh38:
Chr17:50195239
COL1A1G431VOsteogenesis imperfecta, recessive perinatal lethalLikely pathogenic
(Jan 3, 2022)		criteria provided, single submitter
28.
GRCh37:
Chr7:94056348
GRCh38:
Chr7:94427036
COL1A2G1045DOsteogenesis imperfecta, recessive perinatal lethalLikely pathogenic
(Dec 12, 2019)		no assertion criteria provided
29.
GRCh37:
Chr17:48265290
GRCh38:
Chr17:50187929
COL1A1G1106COsteogenesis imperfecta, recessive perinatal lethalLikely pathogenic
(Jan 28, 2020)		no assertion criteria provided
30.
GRCh37:
Chr17:48263149
GRCh38:
Chr17:50185788
COL1A1D1413GOsteogenesis imperfecta, recessive perinatal lethalPathogenic
(Jan 28, 2020)		no assertion criteria provided
31.
GRCh37:
Chr17:48267743
GRCh38:
Chr17:50190382
COL1A1Osteogenesis imperfecta, recessive perinatal lethalPathogenic
(Jan 28, 2020)		no assertion criteria provided
32.
GRCh37:
Chr17:48269248
GRCh38:
Chr17:50191887
COL1A1Multiple epiphyseal dysplasia type 1, Osteogenesis imperfecta, recessive perinatal lethalPathogenic
(May 9, 2022)		criteria provided, single submitter
33.
GRCh37:
Chr7:94039805
GRCh38:
Chr7:94410493
COL1A2G388VOsteogenesis imperfecta, recessive perinatal lethalPathogenic
(Oct 2, 2021)		criteria provided, single submitter
34.
GRCh37:
Chr17:48272818
GRCh38:
Chr17:50195457
COL1A1Q393*Infantile cortical hyperostosis, Ehlers-Danlos syndrome, arthrochalasis type, Osteogenesis imperfecta type III,
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1, Osteogenesis imperfecta, recessive perinatal lethal, Osteogenesis imperfecta type I,
Osteoporosis, Osteogenesis imperfecta with normal sclerae, dominant form, Osteogenesis imperfecta type I,
not provided		Pathogenic/Likely pathogenic
(Jan 14, 2022)		criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr17:48263414
GRCh38:
Chr17:50186053
COL1A1not specified, not provided, Infantile cortical hyperostosis,
Ehlers-Danlos syndrome, arthrochalasis type, Osteogenesis imperfecta type III, Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1,
Osteogenesis imperfecta, recessive perinatal lethal, Osteogenesis imperfecta type I, Osteoporosis,
Osteogenesis imperfecta with normal sclerae, dominant form, Osteogenesis imperfecta type I ...see more		Benign/Likely benign
(Jul 6, 2022)		criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr17:48265456
GRCh38:
Chr17:50188095
COL1A1not provided, Osteogenesis imperfecta, recessive perinatal lethalPathogenic/Likely pathogenic
(Jan 17, 2022)		criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr17:48272794
GRCh38:
Chr17:50195433
COL1A1Osteogenesis imperfecta, recessive perinatal lethalLikely pathogenicno assertion criteria provided
38.
GRCh37:
Chr17:48266157
GRCh38:
Chr17:50188796
COL1A1Osteogenesis imperfecta, recessive perinatal lethalPathogenicno assertion criteria provided
39.
GRCh37:
Chr7:94034006
GRCh38:
Chr7:94404694
COL1A2G109VOsteogenesis imperfecta, recessive perinatal lethalLikely pathogenicno assertion criteria provided
40.
GRCh37:
Chr17:48277124
GRCh38:
Chr17:50199763
COL1A1D97fsCardiovascular phenotype, Osteogenesis imperfecta type I, Osteoporosis,
Infantile cortical hyperostosis, Ehlers-Danlos syndrome, arthrochalasis type, Osteogenesis imperfecta with normal sclerae, dominant form,
Osteogenesis imperfecta, recessive perinatal lethal, Osteogenesis imperfecta type III, Osteogenesis imperfecta type I,
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1		Pathogenic
(Nov 17, 2021)		criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr17:48273542
GRCh38:
Chr17:50196181
COL1A1G326ROsteogenesis imperfecta type I, not providedPathogenic
(Aug 31, 2022)		criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr17:48262967
GRCh38:
Chr17:50185606
COL1A1T1431fsOsteogenesis imperfecta, recessive perinatal lethalPathogenic
(Jul 23, 2020)		criteria provided, single submitter
43.
GRCh37:
Chr7:94041381
GRCh38:
Chr7:94412069
COL1A2G451DOsteogenesis imperfecta, recessive perinatal lethalPathogenic
(Mar 10, 2021)		no assertion criteria provided
44.
GRCh37:
Chr17:48264372
GRCh38:
Chr17:50187011
COL1A1Osteogenesis imperfecta type I, 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,
Osteogenesis imperfecta type I, Infantile cortical hyperostosis, Ehlers-Danlos syndrome, arthrochalasis type
Uncertain significance
(Sep 19, 2022)		criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr17:48272989
GRCh38:
Chr17:50195628
COL1A1G365Vnot provided, Osteogenesis imperfecta, recessive perinatal lethal, Osteogenesis imperfecta type III,
Osteogenesis imperfecta, recessive perinatal lethal, Osteogenesis imperfecta type I, Osteogenesis imperfecta with normal sclerae, dominant form
Pathogenic/Likely pathogenic
(Jun 17, 2023)		criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr17:48269202
GRCh38:
Chr17:50191841
COL1A1G692SOsteogenesis imperfecta, recessive perinatal lethalLikely pathogenic
(Jun 17, 2020)		no assertion criteria provided
47.
GRCh37:
Chr17:48273336
GRCh38:
Chr17:50195975
COL1A1G335DOsteogenesis imperfecta, recessive perinatal lethalLikely pathogenic
(Oct 17, 2020)		criteria provided, single submitter
48.
GRCh37:
Chr7:94055068
GRCh38:
Chr7:94425756
COL1A2R948CCombined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, Ehlers-Danlos syndrome, cardiac valvular type, Osteoporosis,
Ehlers-danlos syndrome, arthrochalasia type, 2, Osteogenesis imperfecta type III, Osteogenesis imperfecta, recessive perinatal lethal,
Osteogenesis imperfecta with normal sclerae, dominant form, Osteogenesis imperfecta type I, Ehlers-Danlos syndrome, classic type, 1
Uncertain significance
(Apr 29, 2022)		criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr7:94050330
GRCh38:
Chr7:94421018
COL1A2G769COsteogenesis imperfecta type I, Ehlers-Danlos syndrome, classic type, 1, Osteogenesis imperfecta, recessive perinatal lethal
Pathogenic
(May 4, 2022)		criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr17:48270008
GRCh38:
Chr17:50192647
COL1A1G641VOsteogenesis imperfecta, recessive perinatal lethalPathogenicno assertion criteria provided
51.
GRCh37:
Chr17:48269166
GRCh38:
Chr17:50191805
COL1A1G704Snot specified, not provided, Osteogenesis imperfecta, recessive perinatal lethal,
Osteogenesis imperfecta type I		Pathogenic
(Jul 27, 2022)		criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr17:48277749
GRCh38:
Chr17:50200388
COL1A1not specified, Ehlers-Danlos syndrome, arthrochalasis type, Osteogenesis imperfecta, recessive perinatal lethal,
Osteogenesis imperfecta with normal sclerae, dominant form, Infantile cortical hyperostosis, Osteogenesis imperfecta type I,
Osteogenesis imperfecta type III, Osteoporosis, Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1,
Osteogenesis imperfecta type I		Benign/Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr7:94048819
GRCh38:
Chr7:94419507
COL1A2G679SOsteogenesis imperfecta, recessive perinatal lethal, Ehlers-Danlos syndrome, classic typeLikely pathogenic
(May 28, 2019)		criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr17:48268813
GRCh38:
Chr17:50191452
COL1A1Cardiovascular phenotype, Osteogenesis imperfecta type I, Osteogenesis imperfecta type I,
Osteogenesis imperfecta with normal sclerae, dominant form, Infantile cortical hyperostosis, Ehlers-Danlos syndrome, arthrochalasis type,
Osteoporosis, Osteogenesis imperfecta, recessive perinatal lethal, Osteogenesis imperfecta type III,
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1, not provided ...see more		Likely benign
(Oct 8, 2022)		criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr17:48264277
GRCh38:
Chr17:50186916
COL1A1P1180TOsteogenesis imperfecta, recessive perinatal lethalLikely benigncriteria provided, single submitter
56.
GRCh37:
Chr17:48272651
GRCh38:
Chr17:50195290
COL1A1A414VOsteogenesis imperfecta, recessive perinatal lethalLikely benigncriteria provided, single submitter
57.
GRCh37:
Chr17:48275489
GRCh38:
Chr17:50198128
COL1A1not provided, 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
Benign
(Jul 22, 2021)		criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr17:48263903
GRCh38:
Chr17:50186542
COL1A1not provided, Osteogenesis imperfecta, recessive perinatal lethal, Osteogenesis imperfecta type I,
Osteogenesis imperfecta type III, Osteogenesis imperfecta with normal sclerae, dominant form, Ehlers-Danlos syndrome, arthrochalasis type
Benign
(Jul 22, 2021)		criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr17:48265426
GRCh38:
Chr17:50188065
COL1A1not provided, Osteogenesis imperfecta, recessive perinatal lethal, Osteogenesis imperfecta type I,
Osteogenesis imperfecta type III, Osteogenesis imperfecta with normal sclerae, dominant form, Ehlers-Danlos syndrome, arthrochalasis type
Benign
(Jul 22, 2021)		criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr17:48266669
GRCh38:
Chr17:50189308
COL1A1not provided, Osteogenesis imperfecta, recessive perinatal lethal, Osteogenesis imperfecta type I,
Osteogenesis imperfecta with normal sclerae, dominant form, Osteogenesis imperfecta type III, Ehlers-Danlos syndrome, arthrochalasis type
Benign
(Jul 22, 2021)		criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr17:48269302
GRCh38:
Chr17:50191941
COL1A1not provided, 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
Benign
(Jul 22, 2021)		criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr17:48269426
GRCh38:
Chr17:50192065
COL1A1not provided, 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
Benign
(Jul 22, 2021)		criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr7:94040458
GRCh38:
Chr7:94411146
COL1A2G448ROsteogenesis imperfecta type I, Ehlers-Danlos syndrome, classic type, 1, Ehlers-danlos syndrome, arthrochalasia type, 2,
Ehlers-Danlos syndrome, cardiac valvular type, Osteogenesis imperfecta with normal sclerae, dominant form, Osteogenesis imperfecta, recessive perinatal lethal,
Osteogenesis imperfecta type III, not provided		Pathogenic/Likely pathogenic
(Dec 28, 2022)		criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr7:94040219
GRCh38:
Chr7:94410907
COL1A2G406SOsteogenesis imperfecta type I, Ehlers-Danlos syndrome, classic type, 1Pathogenic
(Dec 21, 2021)		criteria provided, single submitter
65.
GRCh37:
Chr7:94039769
GRCh38:
Chr7:94410457
COL1A2G376VEhlers-Danlos syndrome, cardiac valvular type, Osteogenesis imperfecta with normal sclerae, dominant form, Osteogenesis imperfecta, recessive perinatal lethal,
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, Osteogenesis imperfecta type III, Ehlers-danlos syndrome, arthrochalasia type, 2,
Osteoporosis, Osteogenesis imperfecta type I, Ehlers-Danlos syndrome, classic type, 1
Pathogenic
(Sep 16, 2021)		criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr17:48263689
GRCh38:
Chr17:50186328
COL1A1D1332NCardiovascular phenotype, Osteogenesis imperfecta with normal sclerae, dominant form, Postmenopausal osteoporosis,
Osteogenesis imperfecta, recessive perinatal lethal, Osteogenesis imperfecta type III, Ehlers-Danlos syndrome, classic type, 1,
Osteogenesis imperfecta type I, Infantile cortical hyperostosis, Ehlers-Danlos syndrome, arthrochalasis type,
Osteogenesis imperfecta type I		Conflicting interpretations of pathogenicity
(Oct 19, 2022)		criteria provided, conflicting interpretations
67.
GRCh37:
Chr17:48272790
GRCh38:
Chr17:50195429
COL1A1Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1, Osteogenesis imperfecta with normal sclerae, dominant form, Ehlers-Danlos syndrome, arthrochalasis type,
Osteogenesis imperfecta, recessive perinatal lethal, Osteogenesis imperfecta type III, Osteogenesis imperfecta type I,
Infantile cortical hyperostosis, Osteoporosis, not provided,
Osteogenesis imperfecta type I		Uncertain significance
(Oct 31, 2022)		criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr7:94055169-94055170
GRCh38:
Chr7:94425857-94425858
COL1A2not provided, Osteogenesis imperfecta, recessive perinatal lethalPathogenic
(May 4, 2022)		criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr7:94037526
GRCh38:
Chr7:94408214
COL1A2R224HEhlers-Danlos syndrome, cardiac valvular type, Osteogenesis imperfecta, recessive perinatal lethal, Osteogenesis imperfecta with normal sclerae, dominant form,
Postmenopausal osteoporosis, Osteogenesis imperfecta type III, Ehlers-danlos syndrome, arthrochalasia type, 2,
Cardiovascular phenotype, Ehlers-danlos syndrome, arthrochalasia type, 2, Osteogenesis imperfecta type I,
Ehlers-Danlos syndrome, classic type, 1, Osteogenesis imperfecta ...see more		Conflicting interpretations of pathogenicity
(Feb 3, 2022)		criteria provided, conflicting interpretations
70.
GRCh37:
Chr7:94041407
GRCh38:
Chr7:94412095
COL1A2G460Snot provided, Osteogenesis imperfecta type I, Ehlers-Danlos syndrome, classic type, 1,
Osteogenesis imperfecta, recessive perinatal lethal		Pathogenic
(Sep 10, 2022)		criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr7:94024395
GRCh38:
Chr7:94395083
COL1A2C18REhlers-Danlos syndrome, cardiac valvular type, Osteogenesis imperfecta, recessive perinatal lethal, Osteogenesis imperfecta with normal sclerae, dominant form,
Postmenopausal osteoporosis, Osteogenesis imperfecta type III, Ehlers-danlos syndrome, arthrochalasia type, 2,
not provided, Osteogenesis imperfecta type I, Ehlers-Danlos syndrome, classic type, 1
Uncertain significance
(Sep 22, 2022)		criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr7:94055069
GRCh38:
Chr7:94425757
COL1A2R948HCardiovascular phenotype, Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, Ehlers-Danlos syndrome, cardiac valvular type,
Osteogenesis imperfecta, recessive perinatal lethal, Osteoporosis, Osteogenesis imperfecta with normal sclerae, dominant form,
Osteogenesis imperfecta type III, Ehlers-danlos syndrome, arthrochalasia type, 2, not provided,
Osteogenesis imperfecta type I, Ehlers-Danlos syndrome, classic type, 1 ...see more		Uncertain significance
(Aug 20, 2022)		criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr7:94043020
GRCh38:
Chr7:94413708
COL1A2G526RCombined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, Inborn genetic diseases, Osteogenesis imperfecta type I,
Ehlers-Danlos syndrome, classic type, 1, not provided, Osteogenesis imperfecta, recessive perinatal lethal
Pathogenic/Likely pathogenic
(Jun 14, 2023)		criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr17:48270043
GRCh38:
Chr17:50192682
COL1A1Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1, Infantile cortical hyperostosis, Ehlers-Danlos syndrome, arthrochalasis type,
Osteogenesis imperfecta, recessive perinatal lethal, Osteoporosis, Osteogenesis imperfecta with normal sclerae, dominant form,
Osteogenesis imperfecta type III, Osteogenesis imperfecta type I, not specified,
Cardiovascular phenotype, Osteogenesis imperfecta type IOsteogenesis imperfecta,
...see more		Conflicting interpretations of pathogenicity
(Jun 15, 2022)		criteria provided, conflicting interpretations
75.
GRCh37:
Chr17:48275383
GRCh38:
Chr17:50198022
COL1A1not specified, Osteogenesis imperfecta type I, Osteogenesis imperfecta with normal sclerae, dominant form,
Ehlers-Danlos syndrome, arthrochalasis type, Osteogenesis imperfecta, recessive perinatal lethal, Osteogenesis imperfecta type III,
Osteogenesis imperfecta type I, Osteoporosis, Infantile cortical hyperostosis,
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1		Likely benign
(Jul 30, 2022)		criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr17:48269359
GRCh38:
Chr17:50191998
COL1A1G671fsOsteogenesis imperfecta type I, not provided, Osteogenesis imperfecta, recessive perinatal lethal
Pathogenic
(Aug 30, 2022)		criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr7:94037160
GRCh38:
Chr7:94407848
COL1A2G199DInborn genetic diseases, Abnormality of the skeletal systemLikely pathogenic
(Jul 10, 2021)		criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr17:48264412
GRCh38:
Chr17:50187051
COL1A1G1166fsOsteogenesis imperfecta with normal sclerae, dominant form, Osteogenesis imperfecta, recessive perinatal lethal, 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 provided		Pathogenic
(Jul 23, 2022)		criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr7:94039080
GRCh38:
Chr7:94409768
COL1A2G328SOsteogenesis imperfecta with normal sclerae, dominant form, Ehlers-Danlos syndrome, cardiac valvular type, Postmenopausal osteoporosis,
Ehlers-danlos syndrome, arthrochalasia type, 2, Osteogenesis imperfecta, recessive perinatal lethal, Osteogenesis imperfecta type III,
not provided, Ehlers-Danlos syndrome, classic type, 1, Osteogenesis imperfecta type I,
Osteogenesis imperfecta with normal sclerae, dominant form, Ehlers-Danlos syndrome, cardiac valvular type ...see more		Pathogenic
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr7:94039044
GRCh38:
Chr7:94409732
COL1A2G316SOsteogenesis imperfecta, Ehlers-Danlos syndrome, classic type, 1, Osteogenesis imperfecta type I,
Osteogenesis imperfecta, recessive perinatal lethal		Pathogenic/Likely pathogenic
(Mar 11, 2022)		criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr7:94055087
GRCh38:
Chr7:94425775
COL1A2I954Tnot provided, Osteogenesis imperfecta, Cardiovascular phenotype,
Osteogenesis imperfecta with normal sclerae, dominant form, Ehlers-Danlos syndrome, cardiac valvular type, Ehlers-danlos syndrome, arthrochalasia type, 2,
Osteoporosis, Osteogenesis imperfecta, recessive perinatal lethal, Osteogenesis imperfecta type III,
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, Ehlers-Danlos syndrome, classic type, 1Osteogenesis imperfecta type I,
Ehlers-danlos syndrome, arthrochalasia type, 2, ...see more		Benign/Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr7:94049604
GRCh38:
Chr7:94420292
COL1A2Ehlers-Danlos syndrome, classic type, 1, Osteogenesis imperfecta type I, Osteogenesis imperfecta, recessive perinatal lethal
Pathogenic
(Feb 4, 2022)		criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr7:94039590
GRCh38:
Chr7:94410278
COL1A2G358Snot provided, Osteogenesis imperfecta with normal sclerae, dominant form, Ehlers-Danlos syndrome, cardiac valvular type,
Ehlers-danlos syndrome, arthrochalasia type, 2, Osteoporosis, Osteogenesis imperfecta, recessive perinatal lethal,
Osteogenesis imperfecta type III, Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, Ehlers-Danlos syndrome, classic type, 1,
Osteogenesis imperfecta type I, Osteogenesis imperfecta, recessive perinatal lethalOsteogenesis imperfecta type III,
...see more		Pathogenic
(Sep 23, 2022)		criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr17:48267231
GRCh38:
Chr17:50189870
COL1A1A868TCardiovascular phenotype, not provided, Osteoporosis,
Osteogenesis imperfecta type I, Infantile cortical hyperostosis, Ehlers-Danlos syndrome, arthrochalasis type,
Osteogenesis imperfecta, recessive perinatal lethal, Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1, Osteogenesis imperfecta type III,
Osteogenesis imperfecta with normal sclerae, dominant form, Osteogenesis imperfecta type I ...see more		Conflicting interpretations of pathogenicity
(Feb 2, 2023)		criteria provided, conflicting interpretations
85.
GRCh37:
Chr17:48272827
GRCh38:
Chr17:50195466
COL1A1A390TCardiovascular phenotype, Osteogenesis imperfecta type I, not specified,
not provided, 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,
Osteoporosis, Infantile cortical hyperostosisOsteogenesis imperfecta type I,
Osteogenesis imperfecta, ...see more		Benign/Likely benign
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr17:48273533
GRCh38:
Chr17:50196172
COL1A1G329Rnot provided, Infantile cortical hyperostosis, Osteogenesis imperfecta type I,
Osteogenesis imperfecta with normal sclerae, dominant form, Postmenopausal osteoporosis, Osteogenesis imperfecta, recessive perinatal lethal,
Osteogenesis imperfecta type III, Ehlers-Danlos syndrome, arthrochalasis type		Pathogenic/Likely pathogenic
(Nov 9, 2018)		criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr17:48263191
GRCh38:
Chr17:50185830
COL1A1R1399Hnot provided, Osteogenesis imperfecta type I, Infantile cortical hyperostosis,
Osteogenesis imperfecta type I, Osteogenesis imperfecta with normal sclerae, dominant form, Postmenopausal osteoporosis,
Osteogenesis imperfecta, recessive perinatal lethal, Osteogenesis imperfecta type III, Ehlers-Danlos syndrome, arthrochalasis type,
Cardiovascular phenotype		Conflicting interpretations of pathogenicity
(Jan 20, 2023)		criteria provided, conflicting interpretations
88.
GRCh37:
Chr17:48267939
GRCh38:
Chr17:50190578
COL1A1G788Snot provided, Infantile cortical hyperostosis, Osteogenesis imperfecta type I,
Osteogenesis imperfecta with normal sclerae, dominant form, Postmenopausal osteoporosis, Osteogenesis imperfecta, recessive perinatal lethal,
Osteogenesis imperfecta type III, Ehlers-Danlos syndrome, arthrochalasis type, Osteogenesis imperfecta type I
Pathogenic
(Sep 1, 2022)		criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr17:48273327
GRCh38:
Chr17:50195966
COL1A1G338Vnot providedLikely pathogenic
(Apr 4, 2017)		criteria provided, single submitter
90.
GRCh37:
Chr17:48263673
GRCh38:
Chr17:50186312
COL1A1not specified, Osteogenesis imperfecta type I, Osteoporosis,
Osteogenesis imperfecta, recessive perinatal lethal, Osteogenesis imperfecta type III, Osteogenesis imperfecta type I,
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1, Ehlers-Danlos syndrome, arthrochalasis type, Osteogenesis imperfecta with normal sclerae, dominant form,
Infantile cortical hyperostosis, not providedCardiovascular phenotype,
Ehlers-Danlos syndrome, ...see more		Uncertain significance
(Sep 28, 2022)		criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr7:94038110
GRCh38:
Chr7:94408798
COL1A2G256Vnot provided, Osteogenesis imperfecta type I, Ehlers-Danlos syndrome, classic type, 1
Pathogenic
(Feb 1, 2022)		criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr7:94053755
GRCh38:
Chr7:94424443
COL1A2Osteogenesis imperfecta type I, Ehlers-Danlos syndrome, classic type, 1Uncertain significance
(Sep 2, 2021)		criteria provided, single submitter
93.
GRCh37:
Chr7:94038715
GRCh38:
Chr7:94409403
COL1A2G292SOsteogenesis imperfecta, recessive perinatal lethal, Osteogenesis imperfecta type I, Ehlers-Danlos syndrome, classic type, 1,
not provided		Pathogenic
(Jul 1, 2023)		criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr7:94047109
GRCh38:
Chr7:94417797
COL1A2G646VOsteogenesis imperfecta, Ehlers-danlos syndrome, arthrochalasia type, 2, Osteogenesis imperfecta type III,
Ehlers-Danlos syndrome, cardiac valvular type, Osteogenesis imperfecta with normal sclerae, dominant form, Osteogenesis imperfecta, recessive perinatal lethal,
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, Osteoporosis		Pathogenic/Likely pathogenic
(Feb 22, 2022)		criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr7:94045753
GRCh38:
Chr7:94416441
COL1A2G601SOsteogenesis imperfecta, recessive perinatal lethal, Osteogenesis imperfecta with normal sclerae, dominant form, Osteogenesis imperfecta type I,
Ehlers-Danlos syndrome, classic type, 1, not provided, Osteogenesis imperfecta
Pathogenic
(Feb 23, 2023)		criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr17:48274406
GRCh38:
Chr17:50197045
COL1A1, LOC126862586G257Rnot provided, Osteogenesis imperfecta, Osteogenesis imperfecta type I,
Osteogenesis imperfecta type III, Ehlers-Danlos syndrome, arthrochalasis type, Osteogenesis imperfecta with normal sclerae, dominant form,
Infantile cortical hyperostosis, Osteogenesis imperfecta, recessive perinatal lethal, Osteogenesis imperfecta type I,
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1, Osteoporosis ...see more		Pathogenic
(May 17, 2023)		criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr17:48272592
GRCh38:
Chr17:50195231
COL1A1not provided, Postmenopausal osteoporosis, Osteogenesis imperfecta type III,
Ehlers-Danlos syndrome, arthrochalasis type, Osteogenesis imperfecta with normal sclerae, dominant form, Infantile cortical hyperostosis,
Osteogenesis imperfecta, recessive perinatal lethal, Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
Pathogenic
(Jul 29, 2022)		criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr17:48272649
GRCh38:
Chr17:50195288
COL1A1R415*not provided, Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1, Infantile cortical hyperostosis,
Osteogenesis 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, OsteoporosisEhlers-Danlos syndrome, arthrochalasis type,
...see more		Pathogenic
(Dec 2, 2022)		criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr17:48273002
GRCh38:
Chr17:50195641
COL1A1R361*Osteogenesis imperfecta, Osteogenesis imperfecta type I, not provided
Pathogenic
(Apr 11, 2023)		criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr17:48268177
GRCh38:
Chr17:50190816
COL1A1Osteogenesis imperfecta type III, Ehlers-Danlos syndrome, arthrochalasis type, Osteoporosis,
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 I		Pathogenic
(Sep 20, 2021)		criteria provided, single submitter
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