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Links from MedGen

Items: 1 to 100 of 222

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr1:103364489
GRCh38:
Chr1:102898933
COL11A1Stickler syndrome type 2Uncertain significance
(Mar 26, 2021)		criteria provided, single submitter
2.
GRCh37:
Chr1:103363681
GRCh38:
Chr1:102898125
COL11A1M1318I, M1395I, M1434I, M1446IStickler syndrome type 2Uncertain significance
(Sep 5, 2023)		criteria provided, single submitter
3.
GRCh37:
Chr1:103380292-103380301
GRCh38:
Chr1:102914736-102914745
COL11A1A1179fs, A1256fs, A1295fs, A1307fsStickler syndrome type 2Likely pathogenic
(Apr 12, 2023)		criteria provided, single submitter
4.
GRCh37:
Chr1:103470017
GRCh38:
Chr1:103004461
COL11A1G527R, G604R, G643R, G655RStickler syndrome type 2Uncertain significance
(Feb 23, 2023)		criteria provided, single submitter
5.
GRCh37:
Chr1:103348867
GRCh38:
Chr1:102883311
COL11A1G1504D, G1581D, G1620D, G1632DHearing loss, autosomal dominant 37, Marshall syndrome, Stickler syndrome type 2
Uncertain significance
(May 26, 2022)		criteria provided, single submitter
6.
GRCh37:
Chr1:103385867
GRCh38:
Chr1:102920311
COL11A1K1138N, K1215N, K1254N, K1266NStickler syndrome type 2Uncertain significance
(Jan 6, 2023)		criteria provided, single submitter
7.
GRCh37:
Chr1:103435772
GRCh38:
Chr1:102970216
COL11A1Stickler syndrome type 2Uncertain significance
(Feb 10, 2023)		criteria provided, single submitter
8.
GRCh37:
Chr1:103347264
GRCh38:
Chr1:102881708
COL11A1R1561G, R1638G, R1677G, R1689Gnot providedUncertain significance
(Mar 16, 2022)		criteria provided, single submitter
9.
GRCh37:
Chr1:103363676
GRCh38:
Chr1:102898120
COL11A1Stickler syndrome type 2Uncertain significance
(Mar 10, 2022)		criteria provided, single submitter
10.
GRCh37:
Chr1:103474026
GRCh38:
Chr1:103008470
COL11A1G443D, G520D, G559D, G571DStickler syndrome type 2Uncertain significance
(Mar 2, 2022)		criteria provided, single submitter
11.
GRCh37:
Chr1:103488292
GRCh38:
Chr1:103022736
COL11A1Stickler syndrome type 2Uncertain significance
(Aug 12, 2021)		criteria provided, single submitter
12.
GRCh37:
Chr1:103412404
GRCh38:
Chr1:102946848
COL11A1Stickler syndrome type 2Likely pathogenic
(Jul 2, 2020)		criteria provided, single submitter
13.
GRCh37:
Chr1:103431042
GRCh38:
Chr1:102965486
COL11A1not provided, Stickler syndrome type 2Pathogenic/Likely pathogenic
(Jul 19, 2022)		criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr1:103483439
GRCh38:
Chr1:103017883
COL11A1Stickler syndrome type 2, Hearing loss, autosomal dominant 37, Marshall syndrome
Uncertain significance
(May 7, 2021)		criteria provided, single submitter
15.
GRCh37:
Chr1:103381211
GRCh38:
Chr1:102915655
COL11A1not provided, Intervertebral disc disorder, Marshall syndrome,
Stickler syndrome type 2, Fibrochondrogenesis 1, Hearing loss, autosomal dominant 37
Likely benign
(Aug 14, 2022)		criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr1:103481225
GRCh38:
Chr1:103015669
COL11A1P380L, P457L, P496L, P508LStickler syndrome type 2, not providedUncertain significance
(Feb 27, 2022)		criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr1:103381181
GRCh38:
Chr1:102915625
COL11A1Stickler syndrome type 2Uncertain significance
(Mar 22, 2022)		criteria provided, single submitter
18.
GRCh37:
Chr1:103405892
GRCh38:
Chr1:102940336
COL11A1D1086E, D1125E, D1137E, D1009EStickler syndrome type 2, Intervertebral disc disorder, Hearing loss, autosomal dominant 37,
Fibrochondrogenesis 1, Marshall syndrome, not provided
Uncertain significance
(Aug 27, 2022)		criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr1:103352512
GRCh38:
Chr1:102886956
COL11A1L1531P, L1570P, L1582P, L1454Pnot provided, Hearing loss, autosomal dominant 37, Stickler syndrome type 2,
Marshall syndrome, Intervertebral disc disorder, Fibrochondrogenesis 1
Conflicting interpretations of pathogenicity
(Mar 3, 2023)		criteria provided, conflicting interpretations
20.
GRCh37:
Chr1:103364295
GRCh38:
Chr1:102898739
COL11A1T1353I, T1276I, T1404I, T1392IStickler syndrome type 2, Marshall syndrome, Fibrochondrogenesis 1,
Hearing loss, autosomal dominant 37, Intervertebral disc disorder, not provided
Uncertain significance
(Sep 27, 2022)		criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr1:103461555
GRCh38:
Chr1:102995999
COL11A1R762Q, R774Q, R646Q, R723Qnot provided, Hearing loss, autosomal dominant 37, Stickler syndrome type 2,
Marshall syndrome, Fibrochondrogenesis 1, Intervertebral disc disorder
Conflicting interpretations of pathogenicity
(Feb 24, 2023)		criteria provided, conflicting interpretations
22.
GRCh37:
Chr1:103540271-103540273
GRCh38:
Chr1:103074715-103074717
COL11A1K185delnot provided, Marshall syndrome, Intervertebral disc disorder,
Stickler syndrome type 2, Fibrochondrogenesis 1, Hearing loss, autosomal dominant 37
Uncertain significance
(Feb 20, 2022)		criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr1:103488297
GRCh38:
Chr1:103022741
COL11A1Hearing loss, autosomal dominant 37, Stickler syndrome type 2, Marshall syndrome,
Fibrochondrogenesis 1, Intervertebral disc disorder, not provided
Likely pathogenic
(Aug 19, 2023)		criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr1:103540260
GRCh38:
Chr1:103074704
COL11A1P189SHearing loss, autosomal dominant 37, Intervertebral disc disorder, Fibrochondrogenesis 1,
Stickler syndrome type 2, Marshall syndrome, not provided
Uncertain significance
(Jul 19, 2021)		criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr1:103444627
GRCh38:
Chr1:102979071
COL11A1R766C, R843C, R882C, R894Cnot providedConflicting interpretations of pathogenicity
(May 9, 2023)		criteria provided, conflicting interpretations
26.
GRCh37:
Chr1:103387129
GRCh38:
Chr1:102921573
COL11A1Stickler syndrome type 2Pathogeniccriteria provided, single submitter
27.
GRCh37:
Chr1:103449737
GRCh38:
Chr1:102984181
COL11A1G722E, G799E, G838E, G850Enot providedPathogenic/Likely pathogenic
(Aug 31, 2023)		criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr1:103427778
GRCh38:
Chr1:102962222
COL11A1A1023E, A1035E, A907E, A984Enot provided, Marshall syndrome, Fibrochondrogenesis 1,
Intervertebral disc disorder, Stickler syndrome type 2, Hearing loss, autosomal dominant 37
Conflicting interpretations of pathogenicity
(Oct 20, 2022)		criteria provided, conflicting interpretations
29.
GRCh37:
Chr1:103440441
GRCh38:
Chr1:102974885
COL11A1not providedPathogenic
(Apr 2, 2021)		criteria provided, single submitter
30.
GRCh37:
Chr1:103444307
GRCh38:
Chr1:102978751
COL11A1G788V, G865V, G904V, G916VHearing loss, autosomal dominant 37, Marshall syndrome, Stickler syndrome type 2
Uncertain significance
(Jul 10, 2020)		criteria provided, single submitter
31.
GRCh37:
Chr1:103364284
GRCh38:
Chr1:102898728
COL11A1G1280C, G1357C, G1396C, G1408CMarshall syndrome, Intervertebral disc disorder, Stickler syndrome type 2,
Fibrochondrogenesis 1, Hearing loss, autosomal dominant 37		Likely pathogenic
(Jun 30, 2021)		criteria provided, single submitter
32.
GRCh37:
Chr1:103354316
GRCh38:
Chr1:102888760
COL11A1Marshall syndrome, Stickler syndrome type 2, Hearing loss, autosomal dominant 37
Pathogenic
(Feb 11, 2021)		criteria provided, single submitter
33.
GRCh37:
Chr1:103388956-104094395
COL11A1, RNPC3Stickler syndrome type 2, Marshall syndrome, Hearing loss, autosomal dominant 37
Likely pathogenic
(Mar 13, 2021)		criteria provided, single submitter
34.
GRCh37:
Chr1:103379177
GRCh38:
Chr1:102913621
COL11A1not provided, Stickler syndrome type 2, Marshall syndrome,
Fibrochondrogenesis 1, Intervertebral disc disorder, Hearing loss, autosomal dominant 37
Benign/Likely benign
(Aug 23, 2022)		criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr1:103343610
GRCh38:
Chr1:102878054
COL11A1G1757R, G1796R, G1680R, G1808RIntervertebral disc disorder, Fibrochondrogenesis 1, Hearing loss, autosomal dominant 37,
Marshall syndrome, Stickler syndrome type 2, not provided
Uncertain significance
(Nov 14, 2022)		criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr1:103387090
GRCh38:
Chr1:102921534
COL11A1G1243V, G1115V, G1192V, G1231VMarshall syndrome, Stickler syndrome type 2, Intervertebral disc disorder,
Fibrochondrogenesis 1, Hearing loss, autosomal dominant 37, not provided
Conflicting interpretations of pathogenicity
(Aug 15, 2022)		criteria provided, conflicting interpretations
37.
GRCh37:
Chr1:103471872
GRCh38:
Chr1:103006316
COL11A1Stickler syndrome type 2Likely pathogenic
(Oct 3, 2019)		criteria provided, single submitter
38.
GRCh37:
Chr1:103480071
GRCh38:
Chr1:103014515
COL11A1A407G, A484G, A523G, A535GStickler syndrome type 2Uncertain significance
(Mar 14, 2019)		criteria provided, single submitter
39.
GRCh37:
Chr1:103488375
GRCh38:
Chr1:103022819
COL11A1E351*, E390*, E402*Stickler syndrome type 2, Marshall syndrome, Fibrochondrogenesis 1
Likely pathogenic
(Jun 29, 2018)		criteria provided, single submitter
40.
GRCh37:
Chr1:103544421
GRCh38:
Chr1:103078865
COL11A1T94Inot providedConflicting interpretations of pathogenicity
(Dec 30, 2022)		criteria provided, conflicting interpretations
41.
GRCh37:
Chr1:103427475
GRCh38:
Chr1:102961919
COL11A1G1000S, G1039S, G1051S, G923SStickler syndrome type 2, Marshall syndromeLikely pathogenic
(Jun 2, 2020)		criteria provided, single submitter
42.
GRCh37:
Chr1:103573849
GRCh38:
Chr1:103108293
COL11A1Fibrochondrogenesis 1, Stickler syndrome type 2Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
43.
GRCh37:
Chr1:103544224
GRCh38:
Chr1:103078668
COL11A1A160TFibrochondrogenesis 1, not provided, Stickler syndrome type 2
Conflicting interpretations of pathogenicity
(Oct 19, 2022)		criteria provided, conflicting interpretations
44.
GRCh37:
Chr1:103444283
GRCh38:
Chr1:102978727
COL11A1P873L, P796L, P912L, P924Lnot provided, Fibrochondrogenesis 1, Stickler syndrome type 2
Conflicting interpretations of pathogenicity
(Jul 14, 2023)		criteria provided, conflicting interpretations
45.
GRCh37:
Chr1:103405870
GRCh38:
Chr1:102940314
COL11A1Stickler syndrome type 2, Fibrochondrogenesis 1, not provided
Conflicting interpretations of pathogenicity
(Oct 22, 2022)		criteria provided, conflicting interpretations
46.
GRCh37:
Chr1:103404605
GRCh38:
Chr1:102939049
COL11A1D1026N, D1103N, D1142N, D1154NStickler syndrome type 2, Fibrochondrogenesis 1Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
47.
GRCh37:
Chr1:103345290
GRCh38:
Chr1:102879734
COL11A1, LOC126805814E1702D, E1625D, E1741D, E1753DFibrochondrogenesis 1, Stickler syndrome type 2Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
48.
GRCh37:
Chr1:103343736
GRCh38:
Chr1:102878180
COL11A1Fibrochondrogenesis 1, Stickler syndrome type 2Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
49.
GRCh37:
Chr1:103343730
GRCh38:
Chr1:102878174
COL11A1Fibrochondrogenesis 1, Stickler syndrome type 2Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
50.
GRCh37:
Chr1:103342274
GRCh38:
Chr1:102876718
COL11A1Fibrochondrogenesis 1, Stickler syndrome type 2Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
51.
GRCh37:
Chr1:103342253
GRCh38:
Chr1:102876697
COL11A1not provided, Stickler syndrome type 2, Fibrochondrogenesis 1
Benign/Likely benign
(Jun 21, 2021)		criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr1:103342040
GRCh38:
Chr1:102876484
COL11A1Stickler syndrome type 2, Fibrochondrogenesis 1Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
53.
GRCh37:
Chr1:103540314
GRCh38:
Chr1:103074758
COL11A1V171Mnot provided, Fibrochondrogenesis 1, Stickler syndrome type 2
Conflicting interpretations of pathogenicity
(Aug 22, 2023)		criteria provided, conflicting interpretations
54.
GRCh37:
Chr1:103496813
GRCh38:
Chr1:103031257
COL11A1Stickler syndrome type 2, Fibrochondrogenesis 1, not provided
Conflicting interpretations of pathogenicity
(Oct 21, 2022)		criteria provided, conflicting interpretations
55.
GRCh37:
Chr1:103487308
GRCh38:
Chr1:103021752
COL11A1Stickler syndrome type 2, Fibrochondrogenesis 1, not provided
Conflicting interpretations of pathogenicity
(Sep 17, 2022)		criteria provided, conflicting interpretations
56.
GRCh37:
Chr1:103484383
GRCh38:
Chr1:103018827
COL11A1Stickler syndrome type 2, Fibrochondrogenesis 1, not provided
Conflicting interpretations of pathogenicity
(Oct 7, 2022)		criteria provided, conflicting interpretations
57.
GRCh37:
Chr1:103343594
GRCh38:
Chr1:102878038
COL11A1P1801L, P1762L, P1813L, P1685LFibrochondrogenesis 1, Stickler syndrome type 2Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
58.
GRCh37:
Chr1:103343535
GRCh38:
Chr1:102877979
COL11A1Fibrochondrogenesis 1, Stickler syndrome type 2Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
59.
GRCh37:
Chr1:103342699
GRCh38:
Chr1:102877143
COL11A1Stickler syndrome type 2, Fibrochondrogenesis 1Uncertain significance
(Mar 2, 2018)		criteria provided, single submitter
60.
GRCh37:
Chr1:103342674
GRCh38:
Chr1:102877118
COL11A1Stickler syndrome type 2, Fibrochondrogenesis 1Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
61.
GRCh37:
Chr1:103548461
GRCh38:
Chr1:103082905
COL11A1Stickler syndrome type 2, Fibrochondrogenesis 1Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
62.
GRCh37:
Chr1:103483441
GRCh38:
Chr1:103017885
COL11A1Fibrochondrogenesis 1, not provided, Stickler syndrome type 2
Uncertain significance
(Jul 18, 2022)		criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr1:103483381
GRCh38:
Chr1:103017825
COL11A1D354H, D431H, D470H, D482HFibrochondrogenesis 1, Stickler syndrome type 2, not provided
Conflicting interpretations of pathogenicity
(Sep 18, 2022)		criteria provided, conflicting interpretations
64.
GRCh37:
Chr1:103468037
GRCh38:
Chr1:103002481
COL11A1G682S, G566S, G694S, G643SFibrochondrogenesis 1, Stickler syndrome type 2Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
65.
GRCh37:
Chr1:103364240
GRCh38:
Chr1:102898684
COL11A1Fibrochondrogenesis 1, Stickler syndrome type 2Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
66.
GRCh37:
Chr1:103343391
GRCh38:
Chr1:102877835
COL11A1Fibrochondrogenesis 1, Stickler syndrome type 2Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
67.
GRCh37:
Chr1:103342493
GRCh38:
Chr1:102876937
COL11A1Fibrochondrogenesis 1, Stickler syndrome type 2Uncertain significance
(Mar 2, 2018)		criteria provided, single submitter
68.
GRCh37:
Chr1:103573982
GRCh38:
Chr1:103108426
COL11A1Fibrochondrogenesis 1, Stickler syndrome type 2Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
69.
GRCh37:
Chr1:103573956
GRCh38:
Chr1:103108400
COL11A1Fibrochondrogenesis 1, Stickler syndrome type 2Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
70.
GRCh37:
Chr1:103491798
GRCh38:
Chr1:103026242
COL11A1T291AFibrochondrogenesis 1, not provided, Stickler syndrome type 2
Conflicting interpretations of pathogenicity
(Sep 6, 2022)		criteria provided, conflicting interpretations
71.
GRCh37:
Chr1:103471422
GRCh38:
Chr1:103005866
COL11A1P490L, P567L, P606L, P618LFibrochondrogenesis 1, not provided, Stickler syndrome type 2
Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
72.
GRCh37:
Chr1:103471383
GRCh38:
Chr1:103005827
COL11A1Fibrochondrogenesis 1, not provided, Stickler syndrome type 2
Conflicting interpretations of pathogenicity
(Sep 27, 2022)		criteria provided, conflicting interpretations
73.
GRCh37:
Chr1:103455066
GRCh38:
Chr1:102989510
COL11A1Fibrochondrogenesis 1, Stickler syndrome type 2Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
74.
GRCh37:
Chr1:103453242
GRCh38:
Chr1:102987686
COL11A1G817S, G701S, G778S, G829SFibrochondrogenesis 1, Stickler syndrome type 2Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
75.
GRCh37:
Chr1:103453238
GRCh38:
Chr1:102987682
COL11A1R818Q, R702Q, R779Q, R830QFibrochondrogenesis 1, not provided, Stickler syndrome type 2
Conflicting interpretations of pathogenicity
(Oct 17, 2022)		criteria provided, conflicting interpretations
76.
GRCh37:
Chr1:103449744
GRCh38:
Chr1:102984188
COL11A1K836E, K848E, K720E, K797EFibrochondrogenesis 1, not provided, Stickler syndrome type 2
Uncertain significance
(Dec 6, 2021)		criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr1:103405924
GRCh38:
Chr1:102940368
COL11A1P1076S, P1115S, P1127S, P999SFibrochondrogenesis 1, Stickler syndrome type 2Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
78.
GRCh37:
Chr1:103347284
GRCh38:
Chr1:102881728
COL11A1S1670N, S1682N, S1554N, S1631NFibrochondrogenesis 1, Stickler syndrome type 2Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
79.
GRCh37:
Chr1:103345344
GRCh38:
Chr1:102879788
COL11A1, LOC126805814Fibrochondrogenesis 1, not provided, Stickler syndrome type 2
Conflicting interpretations of pathogenicity
(Aug 4, 2021)		criteria provided, conflicting interpretations
80.
GRCh37:
Chr1:103343149
GRCh38:
Chr1:102877593
COL11A1Fibrochondrogenesis 1, Stickler syndrome type 2Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
81.
GRCh37:
Chr1:103343089
GRCh38:
Chr1:102877533
COL11A1Fibrochondrogenesis 1, Stickler syndrome type 2Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
82.
GRCh37:
Chr1:103343040
GRCh38:
Chr1:102877484
COL11A1Fibrochondrogenesis 1, Stickler syndrome type 2Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
83.
GRCh37:
Chr1:103342345
GRCh38:
Chr1:102876789
COL11A1Fibrochondrogenesis 1, Stickler syndrome type 2Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
84.
GRCh37:
Chr1:103380261
GRCh38:
Chr1:102914705
COL11A1P1269L, P1308L, P1192L, P1320LFibrochondrogenesis 1, not provided, Stickler syndrome type 2
Uncertain significance
(Oct 24, 2022)		criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr1:103379907
GRCh38:
Chr1:102914351
COL11A1Stickler syndrome type 2, Fibrochondrogenesis 1Conflicting interpretations of pathogenicity
(Jun 3, 2022)		criteria provided, conflicting interpretations
86.
GRCh37:
Chr1:103491143
GRCh38:
Chr1:103025587
COL11A1Stickler syndrome type 2, Fibrochondrogenesis 1, not provided
Conflicting interpretations of pathogenicity
(Aug 19, 2022)		criteria provided, conflicting interpretations
87.
GRCh37:
Chr1:103544246
GRCh38:
Chr1:103078690
COL11A1not provided, Fibrochondrogenesis 1, Stickler syndrome type 2
Conflicting interpretations of pathogenicity
(Oct 5, 2022)		criteria provided, conflicting interpretations
88.
GRCh37:
Chr1:103540340
GRCh38:
Chr1:103074784
COL11A1not provided, Fibrochondrogenesis 1, Stickler syndrome type 2
Conflicting interpretations of pathogenicity
(Oct 26, 2022)		criteria provided, conflicting interpretations
89.
GRCh37:
Chr1:103470018
GRCh38:
Chr1:103004462
COL11A1not provided, Stickler syndrome type 2, Fibrochondrogenesis 1
Conflicting interpretations of pathogenicity
(May 3, 2022)		criteria provided, conflicting interpretations
90.
GRCh37:
Chr1:103380311
GRCh38:
Chr1:102914755
COL11A1not provided, Stickler syndrome type 2, Fibrochondrogenesis 1
Benign/Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr1:103404602
GRCh38:
Chr1:102939046
COL11A1K1143Q, K1155Q, K1027Q, K1104QStickler syndrome type 2Uncertain significance
(May 20, 2018)		criteria provided, single submitter
92.
GRCh37:
Chr1:103428261
GRCh38:
Chr1:102962705
COL11A1G1003D, G875D, G952D, G991DStickler syndrome type 2Likely pathogenic
(Apr 20, 2017)		criteria provided, single submitter
93.
GRCh37:
Chr1:103470193-103470201
GRCh38:
Chr1:103004637-103004645
COL11A1Stickler syndrome type 2Likely pathogenic
(May 1, 2017)		criteria provided, single submitter
94.
GRCh37:
Chr1:103404588-103404589
GRCh38:
Chr1:102939032-102939033
COL11A1not provided, Stickler syndrome type 2Pathogenic/Likely pathogenic
(Jul 13, 2021)		criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr1:103355079
GRCh38:
Chr1:102889523
COL11A1E1466*, E1478*, E1350*, E1427*Stickler syndrome type 2Pathogenic
(Sep 1, 2017)		criteria provided, single submitter
96.
GRCh37:
Chr1:103491905
GRCh38:
Chr1:103026349
COL11A1Stickler syndrome type 2Uncertain significance
(Nov 1, 2016)		criteria provided, single submitter
97.
GRCh37:
Chr1:103380379-103380380
GRCh38:
Chr1:102914823-102914824
COL11A1not specified, Fibrochondrogenesis 1, Marshall syndrome,
Hearing loss, autosomal dominant 37, not provided, Stickler syndrome type 2
Benign
(Nov 4, 2022)		criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr1:103364554
GRCh38:
Chr1:102898998
COL11A1Fibrochondrogenesis 1, not provided, Stickler syndrome type 2
Conflicting interpretations of pathogenicity
(Sep 27, 2022)		criteria provided, conflicting interpretations
99.
GRCh37:
Chr1:103343671
GRCh38:
Chr1:102878115
COL11A1Fibrochondrogenesis 1, not provided, Stickler syndrome type 2
Benign/Likely benign
(Oct 19, 2022)		criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr1:103428196
GRCh38:
Chr1:102962640
COL11A1Stickler syndrome type 2, not specified, not provided,
Fibrochondrogenesis 1		Benign/Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
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