U.S. flag

An official website of the United States government

Display optionsSort by RelevanceDownload
Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 125

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr12:48370349
GRCh38:
Chr12:47976566
COL2A1G1077A, G1146AType II CollagenopathiesLikely pathogenic
(Jul 1, 2023)		criteria provided, single submitter
2.
GRCh37:
Chr12:48389089
GRCh38:
Chr12:47995306
COL2A1Stickler syndrome type 1, not provided, Type II Collagenopathies
Conflicting interpretations of pathogenicity
(Sep 10, 2022)		criteria provided, conflicting interpretations
3.
GRCh37:
Chr12:48388245
GRCh38:
Chr12:47994462
COL2A1P191S, P260SStickler syndrome type 1, Type II CollagenopathiesUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
4.
GRCh37:
Chr12:48369323
GRCh38:
Chr12:47975540
COL2A1Type II Collagenopathies, Stickler syndrome type 1, not provided
Conflicting interpretations of pathogenicity
(Sep 27, 2022)		criteria provided, conflicting interpretations
5.
GRCh37:
Chr12:48369273
GRCh38:
Chr12:47975490
COL2A1Y1238S, Y1169SConnective tissue disorder, Type II Collagenopathies, Stickler syndrome type 1,
not provided		Conflicting interpretations of pathogenicity
(Oct 5, 2022)		criteria provided, conflicting interpretations
6.
GRCh37:
Chr12:48366859
GRCh38:
Chr12:47973076
COL2A1Stickler syndrome type 1, Type II CollagenopathiesUncertain significance
(Mar 2, 2018)		criteria provided, single submitter
7.
GRCh37:
Chr12:48366817
GRCh38:
Chr12:47973034
COL2A1Stickler syndrome type 1, Type II CollagenopathiesUncertain significance
(Mar 30, 2018)		criteria provided, single submitter
8.
GRCh37:
Chr12:48391409
GRCh38:
Chr12:47997626
COL2A1G102R, G171RType II Collagenopathies, Stickler syndrome type 1Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
9.
GRCh37:
Chr12:48387578
GRCh38:
Chr12:47993795
COL2A1Type II Collagenopathies, Stickler syndrome type 1Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
10.
GRCh37:
Chr12:48375192
GRCh38:
Chr12:47981409
COL2A1Type II Collagenopathies, Stickler syndrome type 1, not provided
Conflicting interpretations of pathogenicity
(Oct 26, 2022)		criteria provided, conflicting interpretations
11.
GRCh37:
Chr12:48367863
GRCh38:
Chr12:47974080
COL2A1Type II Collagenopathies, Stickler syndrome type 1Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
12.
GRCh37:
Chr12:48367304
GRCh38:
Chr12:47973521
COL2A1Type II Collagenopathies, not provided, Stickler syndrome type 1
Conflicting interpretations of pathogenicity
(Oct 19, 2022)		criteria provided, conflicting interpretations
13.
GRCh37:
Chr12:48391408
GRCh38:
Chr12:47997625
COL2A1G102V, G171VType II Collagenopathies, Stickler syndrome type 1, Inborn genetic diseases
Uncertain significance
(May 4, 2022)		criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr12:48381477
GRCh38:
Chr12:47987694
COL2A1T380A, T311AType II Collagenopathies, Stickler syndrome type 1Conflicting interpretations of pathogenicity
(Apr 28, 2017)		criteria provided, conflicting interpretations
15.
GRCh37:
Chr12:48377461
GRCh38:
Chr12:47983678
COL2A1Type II Collagenopathies, Stickler syndrome type 1Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
16.
GRCh37:
Chr12:48373838
GRCh38:
Chr12:47980055
COL2A1T878I, T809IType II Collagenopathies, Stickler syndrome type 1Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
17.
GRCh37:
Chr12:48370904
GRCh38:
Chr12:47977121
COL2A1A1034G, A1103GType II Collagenopathies, Stickler syndrome type 1, Inborn genetic diseases,
not provided		Conflicting interpretations of pathogenicity
(Oct 13, 2022)		criteria provided, conflicting interpretations
18.
GRCh37:
Chr12:48368446
GRCh38:
Chr12:47974663
COL2A1Type II Collagenopathies, not provided, Stickler syndrome type 1
Conflicting interpretations of pathogenicity
(Oct 19, 2022)		criteria provided, conflicting interpretations
19.
GRCh37:
Chr12:48367206
GRCh38:
Chr12:47973423
COL2A1P1483L, P1414LType II Collagenopathies, Stickler syndrome type 1, not provided
Conflicting interpretations of pathogenicity
(Jul 10, 2019)		criteria provided, conflicting interpretations
20.
GRCh37:
Chr12:48389479
GRCh38:
Chr12:47995696
COL2A1not provided, Type II Collagenopathies, Stickler syndrome type 1
Conflicting interpretations of pathogenicity
(Jul 26, 2022)		criteria provided, conflicting interpretations
21.
GRCh37:
Chr12:48372470
GRCh38:
Chr12:47978687
COL2A1not provided, Type II Collagenopathies, Stickler syndrome type 1
Conflicting interpretations of pathogenicity
(Mar 3, 2022)		criteria provided, conflicting interpretations
22.
GRCh37:
Chr12:48369838
GRCh38:
Chr12:47976055
COL2A1V1100I, V1169Inot provided, Type II Collagenopathies, Stickler syndrome type 1
Conflicting interpretations of pathogenicity
(Oct 13, 2022)		criteria provided, conflicting interpretations
23.
GRCh37:
Chr12:48368096
GRCh38:
Chr12:47974313
COL2A1N1365Y, N1296Ynot provided, Type II Collagenopathies, Stickler syndrome type 1
Conflicting interpretations of pathogenicity
(Sep 1, 2021)		criteria provided, conflicting interpretations
24.
GRCh37:
Chr12:48372168
GRCh38:
Chr12:47978385
COL2A1P970L, P901LConnective tissue disorder, not provided, Type II Collagenopathies,
Stickler syndrome type 1		Conflicting interpretations of pathogenicity
(Jul 25, 2022)		criteria provided, conflicting interpretations
25.
GRCh37:
Chr12:48372421
GRCh38:
Chr12:47978638
COL2A1P952T, P883TStickler syndrome type 1, not provided, Type II Collagenopathies
Benign/Likely benign
(Oct 25, 2022)		criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr12:48370646
GRCh38:
Chr12:47976863
COL2A1Stickler syndrome type 1, not specified, not provided,
Type II Collagenopathies		Benign/Likely benign
(Oct 25, 2022)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr12:48368073
GRCh38:
Chr12:47974290
COL2A1Connective tissue disorder, Type II Collagenopathies, Stickler syndrome type 1,
not provided		Conflicting interpretations of pathogenicity
(Oct 18, 2022)		criteria provided, conflicting interpretations
28.
GRCh37:
Chr12:48388225
GRCh38:
Chr12:47994442
COL2A1Type II Collagenopathies, not provided, Stickler syndrome type 1
Conflicting interpretations of pathogenicity
(May 16, 2022)		criteria provided, conflicting interpretations
29.
GRCh37:
Chr12:48369263
GRCh38:
Chr12:47975480
COL2A1Connective tissue disorder, not provided, Type II Collagenopathies,
Stickler syndrome type 1		Conflicting interpretations of pathogenicity
(Oct 24, 2022)		criteria provided, conflicting interpretations
30.
GRCh37:
Chr12:48390390
GRCh38:
Chr12:47996607
COL2A1A184T, A115TConnective tissue disorder, not provided, Type II Collagenopathies,
Stickler syndrome type 1		Conflicting interpretations of pathogenicity
(Oct 10, 2022)		criteria provided, conflicting interpretations
31.
GRCh37:
Chr12:48367310
GRCh38:
Chr12:47973527
COL2A1Connective tissue disorder, not specified, not provided,
Stickler syndrome type 1, Achondrogenesis type II, Multiple epiphyseal dysplasia, Beighton type,
Legg-Calve-Perthes disease, Czech dysplasia, metatarsal type, Avascular necrosis of femoral head, primary, 1,
Spondyloepimetaphyseal dysplasia, Strudwick type, Spondylometaphyseal dysplasia - Sutcliffe typeStickler syndrome, type I, nonsyndromic ocular,
Vitreoretinopathy with phalangeal epiphyseal dysplasia, Namaqualand hip dysplasia, Spondyloepiphyseal dysplasia congenita,
Kniest dysplasia, Spondyloperipheral dysplasia, Stickler syndrome type 1,
Platyspondylic dysplasia, Torrance type, Spondyloepiphyseal dysplasia, Stanescu type, Type II Collagenopathies,
...see more		Benign/Likely benign
(Oct 27, 2022)		criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr12:48376694
GRCh38:
Chr12:47982911
COL2A1not provided, Type II Collagenopathies, Stickler syndrome type 1
Benign/Likely benign
(Oct 21, 2022)		criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr12:48371428
GRCh38:
Chr12:47977645
COL2A1not provided, Stickler syndrome type 1, Type II Collagenopathies
Conflicting interpretations of pathogenicity
(Jun 12, 2022)		criteria provided, conflicting interpretations
34.
GRCh37:
Chr12:48370645
GRCh38:
Chr12:47976862
COL2A1not specified, not provided, Stickler syndrome type 1,
Type II Collagenopathies		Conflicting interpretations of pathogenicity
(Oct 21, 2022)		criteria provided, conflicting interpretations
35.
GRCh37:
Chr12:48376661
GRCh38:
Chr12:47982878
COL2A1Stickler syndrome type 1, not provided, Type II Collagenopathies
Benign/Likely benign
(Oct 23, 2022)		criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr12:48369809
GRCh38:
Chr12:47976026
COL2A1not specified, Stickler syndrome type 1, not provided,
Type II Collagenopathies		Benign/Likely benign
(Oct 24, 2022)		criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr12:48386658
GRCh38:
Chr12:47992875
COL2A1Stickler syndrome type 1, not provided, Type II Collagenopathies
Conflicting interpretations of pathogenicity
(Oct 4, 2022)		criteria provided, conflicting interpretations
38.
GRCh37:
Chr12:48387611
GRCh38:
Chr12:47993828
COL2A1A302V, A233VSpondyloepimetaphyseal dysplasia, Strudwick type, Spondyloepiphyseal dysplasia congenita, Spondylometaphyseal dysplasia - Sutcliffe type,
Achondrogenesis type II, Vitreoretinopathy with phalangeal epiphyseal dysplasia, Kniest dysplasia,
Stickler syndrome, type I, nonsyndromic ocular, Namaqualand hip dysplasia, Spondyloepiphyseal dysplasia congenita,
Multiple epiphyseal dysplasia, Beighton type, Platyspondylic dysplasia, Torrance typeCzech dysplasia, metatarsal type,
Avascular necrosis of femoral head, primary, 1, Spondyloepiphyseal dysplasia, Stanescu type, Legg-Calve-Perthes disease,
Spondyloperipheral dysplasia, Stickler syndrome type 1, Spondyloepimetaphyseal dysplasia, Strudwick type,
not provided, Type II Collagenopathies, Abnormality of the skeletal system,
...see more		Pathogenic/Likely pathogenic
(Jul 1, 2023)		criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr12:48380926
GRCh38:
Chr12:47987143
COL2A1P434S, P365SHearing impairment, not provided, Type II Collagenopathies,
Stickler syndrome type 1		Conflicting interpretations of pathogenicity
(Aug 1, 2023)		criteria provided, conflicting interpretations
40.
GRCh37:
Chr12:48371802
GRCh38:
Chr12:47978019
COL2A1Connective tissue disorder, not provided, Stickler syndrome type 1,
not specified, Type II Collagenopathies		Benign/Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr12:48398291
GRCh38:
Chr12:48004508
COL2A1Stickler Syndrome, Dominant, not provided, Type II Collagenopathies
Benign/Likely benign
(Jun 16, 2018)		criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr12:48398223
GRCh38:
Chr12:48004440
COL2A1Stickler syndrome type 1, not provided, Type II Collagenopathies
Benign
(Jun 14, 2018)		criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr12:48398119
GRCh38:
Chr12:48004336
COL2A1Type II Collagenopathies, Stickler syndrome type 1Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
44.
GRCh37:
Chr12:48398093
GRCh38:
Chr12:48004310
COL2A1Type II Collagenopathies, Stickler syndrome type 1Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
45.
GRCh37:
Chr12:48398088
GRCh38:
Chr12:48004305
COL2A1A6Dnot provided, Type II Collagenopathies, Connective tissue disorder,
Stickler syndrome type 1		Benign/Likely benign
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr12:48398010
GRCh38:
Chr12:48004227
COL2A1Connective tissue disorder, not specified, Stickler syndrome type 1,
not provided, Type II Collagenopathies		Conflicting interpretations of pathogenicity
(Jun 1, 2023)		criteria provided, conflicting interpretations
47.
GRCh37:
Chr12:48393748
GRCh38:
Chr12:47999965
COL2A1not provided, Stickler syndrome type 1, Type II Collagenopathies
Conflicting interpretations of pathogenicity
(Aug 1, 2023)		criteria provided, conflicting interpretations
48.
GRCh37:
Chr12:48391413
GRCh38:
Chr12:47997630
COL2A1not provided, not specified, Type II Collagenopathies,
Stickler syndrome type 1		Benign/Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr12:48390411
GRCh38:
Chr12:47996628
COL2A1Type II Collagenopathies, Stickler syndrome type 1, not provided
Uncertain significance
(Jan 4, 2022)		criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr12:48389709
GRCh38:
Chr12:47995926
COL2A1not specified, not provided, Type II Collagenopathies,
Connective tissue disorder, Stickler syndrome type 1		Benign
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr12:48389099
GRCh38:
Chr12:47995316
COL2A1not specified, not provided, Type II Collagenopathies,
Stickler syndrome type 1		Benign/Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr12:48388220
GRCh38:
Chr12:47994437
COL2A1P268L, P199Lnot provided, Type II Collagenopathies, Achondrogenesis type II,
Avascular necrosis of femoral head, primary, 1, Multiple epiphyseal dysplasia, Beighton type, Legg-Calve-Perthes disease,
Kniest dysplasia, Spondylometaphyseal dysplasia, Spondyloepiphyseal dysplasia congenita,
Stickler syndrome, type I, nonsyndromic ocular, Spondyloepiphyseal dysplasia, Stanescu typeNamaqualand hip dysplasia,
Czech dysplasia, metatarsal type, Spondyloperipheral dysplasia, Stickler syndrome type 1,
Platyspondylic dysplasia, Torrance type, Stickler syndrome type 1, ...see more		Conflicting interpretations of pathogenicity
(Oct 10, 2022)		criteria provided, conflicting interpretations
53.
GRCh37:
Chr12:48386680
GRCh38:
Chr12:47992897
COL2A1T335S, T266SStickler Syndrome, Dominant, not provided, Type II Collagenopathies
Conflicting interpretations of pathogenicity
(Aug 23, 2022)		criteria provided, conflicting interpretations
54.
GRCh37:
Chr12:48383563
GRCh38:
Chr12:47989780
COL2A1P350L, P281LType II Collagenopathies, Stickler syndrome type 1Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
55.
GRCh37:
Chr12:48383056
GRCh38:
Chr12:47989273
COL2A1Stickler syndrome type 1, not provided, Type II Collagenopathies
Conflicting interpretations of pathogenicity
(Jul 27, 2022)		criteria provided, conflicting interpretations
56.
GRCh37:
Chr12:48380684
GRCh38:
Chr12:47986901
COL2A1not provided, Type II Collagenopathies, Connective tissue disorder,
Stickler syndrome type 1		Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
57.
GRCh37:
Chr12:48380148
GRCh38:
Chr12:47986365
COL2A1V500I, V431IType II Collagenopathies, Stickler syndrome type 1, not provided
Conflicting interpretations of pathogenicity
(Sep 15, 2023)		criteria provided, conflicting interpretations
58.
GRCh37:
Chr12:48379532
GRCh38:
Chr12:47985749
COL2A1Stickler syndrome type 1, Type II CollagenopathiesConflicting interpretations of pathogenicity
(Jan 12, 2018)		criteria provided, conflicting interpretations
59.
GRCh37:
Chr12:48379503
GRCh38:
Chr12:47985720
COL2A1Type II Collagenopathies, Stickler syndrome type 1Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
60.
GRCh37:
Chr12:48379502
GRCh38:
Chr12:47985719
COL2A1Stickler syndrome type 1, Type II CollagenopathiesConflicting interpretations of pathogenicity
(Jan 12, 2018)		criteria provided, conflicting interpretations
61.
GRCh37:
Chr12:48377873
GRCh38:
Chr12:47984090
COL2A1Stickler syndrome type 1, not provided, Type II Collagenopathies
Conflicting interpretations of pathogenicity
(Jul 30, 2022)		criteria provided, conflicting interpretations
62.
GRCh37:
Chr12:48377171
GRCh38:
Chr12:47983388
COL2A1not provided, not specified, Type II Collagenopathies,
Stickler syndrome type 1		Benign/Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr12:48376733
GRCh38:
Chr12:47982950
COL2A1Achondrogenesis type II, Legg-Calve-Perthes disease, Stickler syndrome type 1,
Platyspondylic dysplasia, Torrance type, Spondylometaphyseal dysplasia - Sutcliffe type, Spondyloepiphyseal dysplasia congenita,
Stickler syndrome, type I, nonsyndromic ocular, Spondyloepimetaphyseal dysplasia, Strudwick type, Avascular necrosis of femoral head, primary, 1,
Kniest dysplasia, Namaqualand hip dysplasiaMultiple epiphyseal dysplasia, Beighton type,
Spondyloperipheral dysplasia, Czech dysplasia, metatarsal type, Spondyloepiphyseal dysplasia, Stanescu type,
Vitreoretinopathy with phalangeal epiphyseal dysplasia, Connective tissue disorder, not specified,
Stickler syndrome type 1, not provided, Type II Collagenopathies,
...see more		Benign/Likely benign
(Apr 1, 2023)		criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr12:48376305
GRCh38:
Chr12:47982522
COL2A1A761T, A692TType II Collagenopathies, not provided, Stickler syndrome type 1
Conflicting interpretations of pathogenicity
(May 1, 2022)		criteria provided, conflicting interpretations
65.
GRCh37:
Chr12:48375190
GRCh38:
Chr12:47981407
COL2A1not provided, Type II Collagenopathies, Stickler syndrome type 1
Conflicting interpretations of pathogenicity
(Aug 10, 2022)		criteria provided, conflicting interpretations
66.
GRCh37:
Chr12:48374731
GRCh38:
Chr12:47980948
COL2A1not provided, not specified, Type II Collagenopathies,
Connective tissue disorder, Stickler syndrome type 1		Benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr12:48372456
GRCh38:
Chr12:47978673
COL2A1R940Q, R871Qnot provided, Type II Collagenopathies, Stickler syndrome type 1
Conflicting interpretations of pathogenicity
(Oct 24, 2022)		criteria provided, conflicting interpretations
68.
GRCh37:
Chr12:48371857
GRCh38:
Chr12:47978074
COL2A1R1016K, R947KType II Collagenopathies, Stickler syndrome type 1, not provided
Conflicting interpretations of pathogenicity
(Sep 6, 2023)		criteria provided, conflicting interpretations
69.
GRCh37:
Chr12:48371397
GRCh38:
Chr12:47977614
COL2A1A1051T, A982Tnot specified, not provided, Type II Collagenopathies,
Stickler syndrome type 1		Benign/Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr12:48371132
GRCh38:
Chr12:47977349
COL2A1T1082A, T1013Anot provided, Type II Collagenopathies, Stickler syndrome type 1
Uncertain significance
(Dec 28, 2021)		criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr12:48370882
GRCh38:
Chr12:47977099
COL2A1not provided, Type II Collagenopathies, Stickler syndrome type 1
Benign/Likely benign
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr12:48369849
GRCh38:
Chr12:47976066
COL2A1P1165L, P1096Lnot provided, Type II Collagenopathies, Stickler syndrome type 1
Conflicting interpretations of pathogenicity
(Jul 26, 2021)		criteria provided, conflicting interpretations
73.
GRCh37:
Chr12:48369782
GRCh38:
Chr12:47975999
COL2A1not provided, Stickler Syndrome, Dominant, Type II Collagenopathies
Conflicting interpretations of pathogenicity
(Aug 19, 2022)		criteria provided, conflicting interpretations
74.
GRCh37:
Chr12:48369327
GRCh38:
Chr12:47975544
COL2A1M1220T, M1151TType II Collagenopathies, Stickler syndrome type 1Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
75.
GRCh37:
Chr12:48369250
GRCh38:
Chr12:47975467
COL2A1G1246S, G1177Snot specified, not provided, Connective tissue disorder,
Type II Collagenopathies, Stickler syndrome type 1		Conflicting interpretations of pathogenicity
(Oct 18, 2022)		criteria provided, conflicting interpretations
76.
GRCh37:
Chr12:48369178
GRCh38:
Chr12:47975395
COL2A1R1270C, R1201Cnot provided, Type II Collagenopathies, Stickler syndrome type 1
Uncertain significance
(Jul 18, 2022)		criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr12:48368072
GRCh38:
Chr12:47974289
COL2A1V1373I, V1304Inot provided, Type II Collagenopathies, Stickler syndrome type 1
Conflicting interpretations of pathogenicity
(Aug 23, 2022)		criteria provided, conflicting interpretations
78.
GRCh37:
Chr12:48367939
GRCh38:
Chr12:47974156
COL2A1N1417S, N1348SStickler syndrome type 1, Type II Collagenopathies, not provided
Conflicting interpretations of pathogenicity
(Aug 10, 2022)		criteria provided, conflicting interpretations
79.
GRCh37:
Chr12:48367925
GRCh38:
Chr12:47974142
COL2A1R1422W, R1353Wnot provided, Type II Collagenopathies, Stickler syndrome type 1
Conflicting interpretations of pathogenicity
(Aug 10, 2022)		criteria provided, conflicting interpretations
80.
GRCh37:
Chr12:48367279
GRCh38:
Chr12:47973496
COL2A1R1459C, R1390Cnot provided, Stickler syndrome type 1, Type II Collagenopathies
Conflicting interpretations of pathogenicity
(Sep 9, 2022)		criteria provided, conflicting interpretations
81.
GRCh37:
Chr12:48367186
GRCh38:
Chr12:47973403
COL2A1not provided, not specified, Type II Collagenopathies,
Connective tissue disorder, Stickler syndrome type 1		Benign
(Sep 13, 2022)		criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr12:48367162
GRCh38:
Chr12:47973379
COL2A1not provided, Type II Collagenopathies, Stickler syndrome type 1
Likely benign
(Jun 14, 2018)		criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr12:48367070
GRCh38:
Chr12:47973287
COL2A1Type II Collagenopathies, Stickler syndrome type 1Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
84.
GRCh37:
Chr12:48367059
GRCh38:
Chr12:47973276
COL2A1Type II Collagenopathies, Stickler syndrome type 1Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
85.
GRCh37:
Chr12:48367054
GRCh38:
Chr12:47973271
COL2A1not provided, Type II Collagenopathies, Stickler syndrome type 1
Benign
(Jun 14, 2018)		criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr12:48367032
GRCh38:
Chr12:47973249
COL2A1Type II Collagenopathies, Stickler syndrome type 1Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
87.
GRCh37:
Chr12:48366895
GRCh38:
Chr12:47973112
COL2A1not provided, Type II Collagenopathies, Stickler syndrome type 1
Benign
(Jul 27, 2018)		criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr12:48366885
GRCh38:
Chr12:47973102
COL2A1not provided, Type II Collagenopathies, Stickler syndrome type 1
Conflicting interpretations of pathogenicity
(Jan 1, 2023)		criteria provided, conflicting interpretations
89.
GRCh37:
Chr12:48366784
GRCh38:
Chr12:47973001
COL2A1Stickler syndrome type 1, Type II CollagenopathiesUncertain significance
(Jan 12, 2018)		criteria provided, single submitter
90.
GRCh37:
Chr12:48369200
GRCh38:
Chr12:47975417
COL2A1Connective tissue disorder, not provided, Stickler syndrome type 1,
Type II Collagenopathies		Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
91.
GRCh37:
Chr12:48379557
GRCh38:
Chr12:47985774
COL2A1N545S, N476SType II Collagenopathies, Stickler syndrome type 1, not provided
Conflicting interpretations of pathogenicity
(Nov 28, 2022)		criteria provided, conflicting interpretations
92.
GRCh37:
Chr12:48393799
GRCh38:
Chr12:48000016
COL2A1Connective tissue disorder, not provided, Stickler syndrome type 1,
Type II Collagenopathies		Conflicting interpretations of pathogenicity
(Dec 1, 2022)		criteria provided, conflicting interpretations
93.
GRCh37:
Chr12:48372065
GRCh38:
Chr12:47978282
COL2A1not specified, not provided, Type II Collagenopathies,
Stickler syndrome type 1		Benign/Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr12:48389485
GRCh38:
Chr12:47995702
COL2A1not specified, not provided, Type II Collagenopathies,
Stickler syndrome type 1		Benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr12:48389023
GRCh38:
Chr12:47995240
COL2A1not specified, Stickler syndrome type 1, not provided,
Type II Collagenopathies		Benign
(Nov 4, 2022)		criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr12:48389643
GRCh38:
Chr12:47995860
COL2A1Stickler syndrome type 1, not specified, not provided,
Type II Collagenopathies		Benign
(Oct 18, 2022)		criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr12:48391657
GRCh38:
Chr12:47997874
COL2A1E142D, E73Dnot provided, Stickler syndrome type 1, Connective tissue disorder,
not specified, Type II Collagenopathies		Benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr12:48367976
GRCh38:
Chr12:47974193
COL2A1G1405S, G1336Snot specified, Stickler syndrome type 1, not provided,
Type II Collagenopathies		Benign
(Oct 7, 2022)		criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr12:48368128
GRCh38:
Chr12:47974345
COL2A1Stickler syndrome type 1, not specified, not provided,
Type II Collagenopathies		Benign
(Nov 4, 2022)		criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr12:48368464
GRCh38:
Chr12:47974681
COL2A1Stickler syndrome type 1, Type II Collagenopathies, not specified,
not provided		Benign
(Oct 18, 2022)		criteria provided, multiple submitters, no conflicts
Display optionsSort by RelevanceDownload
Format
Items per page
Sort by
Choose Destination