| - GRCh37:
- Chr1:103470017
- GRCh38:
- Chr1:103004461
| COL11A1 | G527R, G604R, G643R, G655R | Stickler syndrome type 2 | Uncertain significance (Feb 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:103348867
- GRCh38:
- Chr1:102883311
| COL11A1 | G1504D, G1581D, G1620D, G1632D | Hearing loss, autosomal dominant 37, Marshall syndrome, Stickler syndrome type 2
| Uncertain significance (May 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:103385867
- GRCh38:
- Chr1:102920311
| COL11A1 | K1138N, K1215N, K1254N, K1266N | Stickler syndrome type 2 | Uncertain significance (Jan 6, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:103435772
- GRCh38:
- Chr1:102970216
| COL11A1 | | Stickler syndrome type 2 | Uncertain significance (Feb 10, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:103347264
- GRCh38:
- Chr1:102881708
| COL11A1 | R1561G, R1638G, R1677G, R1689G | not provided | Uncertain significance (Mar 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:103363676
- GRCh38:
- Chr1:102898120
| COL11A1 | | Stickler syndrome type 2 | Uncertain significance (Mar 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:103474026
- GRCh38:
- Chr1:103008470
| COL11A1 | G443D, G520D, G559D, G571D | Stickler syndrome type 2 | Uncertain significance (Mar 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:103488292
- GRCh38:
- Chr1:103022736
| COL11A1 | | Stickler syndrome type 2 | Uncertain significance (Aug 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:103412404
- GRCh38:
- Chr1:102946848
| COL11A1 | | Stickler syndrome type 2 | Likely pathogenic (Jul 2, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:103431042
- GRCh38:
- Chr1:102965486
| COL11A1 | | not provided, Stickler syndrome type 2 | Pathogenic/Likely pathogenic (Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:103483439
- GRCh38:
- Chr1:103017883
| COL11A1 | | Hearing loss, autosomal dominant 37, Stickler syndrome type 2, Marshall syndrome
| Uncertain significance (May 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:103381211
- GRCh38:
- Chr1:102915655
| COL11A1 | | not 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 |
| - GRCh37:
- Chr1:103481225
- GRCh38:
- Chr1:103015669
| COL11A1 | P380L, P457L, P496L, P508L | Stickler syndrome type 2, not provided | Uncertain significance (Feb 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:103381181
- GRCh38:
- Chr1:102915625
| COL11A1 | | Stickler syndrome type 2 | Uncertain significance (Mar 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:103405892
- GRCh38:
- Chr1:102940336
| COL11A1 | D1086E, D1125E, D1137E, D1009E | Stickler 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 |
| - GRCh37:
- Chr1:103352512
- GRCh38:
- Chr1:102886956
| COL11A1 | L1531P, L1570P, L1582P, L1454P | not 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 |
| - GRCh37:
- Chr1:103364295
- GRCh38:
- Chr1:102898739
| COL11A1 | T1353I, T1276I, T1404I, T1392I | Stickler 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 |
| - GRCh37:
- Chr1:103461555
- GRCh38:
- Chr1:102995999
| COL11A1 | R762Q, R774Q, R646Q, R723Q | Marshall syndrome, Intervertebral disc disorder, Stickler syndrome type 2, Fibrochondrogenesis 1, Hearing loss, autosomal dominant 37, not provided
| Conflicting interpretations of pathogenicity (Nov 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:103540271-103540273
- GRCh38:
- Chr1:103074715-103074717
| COL11A1 | K185del | not 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 |
| - GRCh37:
- Chr1:103488297
- GRCh38:
- Chr1:103022741
| COL11A1 | | Intervertebral disc disorder, Stickler syndrome type 2, Fibrochondrogenesis 1, Hearing loss, autosomal dominant 37, Marshall syndrome, not provided
| Likely pathogenic (Feb 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:103540260
- GRCh38:
- Chr1:103074704
| COL11A1 | P189S | Hearing 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 |
| - GRCh37:
- Chr1:103444627
- GRCh38:
- Chr1:102979071
| COL11A1 | R766C, R843C, R882C, R894C | not provided | Conflicting interpretations of pathogenicity (May 9, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:103387129
- GRCh38:
- Chr1:102921573
| COL11A1 | | Stickler syndrome type 2 | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr1:103449737
- GRCh38:
- Chr1:102984181
| COL11A1 | G722E, G799E, G838E, G850E | not provided | Pathogenic/Likely pathogenic (Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:103427778
- GRCh38:
- Chr1:102962222
| COL11A1 | A1023E, A1035E, A907E, A984E | not 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 |
| - GRCh37:
- Chr1:103440441
- GRCh38:
- Chr1:102974885
| COL11A1 | | not provided | Pathogenic (Apr 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:103444307
- GRCh38:
- Chr1:102978751
| COL11A1 | G788V, G865V, G904V, G916V | Hearing loss, autosomal dominant 37, Marshall syndrome, Stickler syndrome type 2
| Uncertain significance (Jul 10, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:103364284
- GRCh38:
- Chr1:102898728
| COL11A1 | G1280C, G1357C, G1396C, G1408C | Marshall syndrome, Intervertebral disc disorder, Stickler syndrome type 2, Fibrochondrogenesis 1, Hearing loss, autosomal dominant 37 | Likely pathogenic (Jun 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:103354316
- GRCh38:
- Chr1:102888760
| COL11A1 | | Hearing loss, autosomal dominant 37, Stickler syndrome type 2, Marshall syndrome
| Pathogenic (Feb 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:103388956-104094395
| COL11A1, RNPC3 | | Stickler syndrome type 2, Marshall syndrome, Hearing loss, autosomal dominant 37
| Likely pathogenic (Mar 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:103379177
- GRCh38:
- Chr1:102913621
| COL11A1 | | not 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 |
| - GRCh37:
- Chr1:103343610
- GRCh38:
- Chr1:102878054
| COL11A1 | G1757R, G1796R, G1680R, G1808R | Intervertebral 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 |
| - GRCh37:
- Chr1:103387090
- GRCh38:
- Chr1:102921534
| COL11A1 | G1243V, G1115V, G1192V, G1231V | Marshall 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 |
| - GRCh37:
- Chr1:103471872
- GRCh38:
- Chr1:103006316
| COL11A1 | | Stickler syndrome type 2 | Likely pathogenic (Oct 3, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:103480071
- GRCh38:
- Chr1:103014515
| COL11A1 | A407G, A484G, A523G, A535G | Stickler syndrome type 2 | Uncertain significance (Mar 14, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:103488375
- GRCh38:
- Chr1:103022819
| COL11A1 | E351*, E390*, E402* | Stickler syndrome type 2, Marshall syndrome, Fibrochondrogenesis 1
| Likely pathogenic (Jun 29, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:103544421
- GRCh38:
- Chr1:103078865
| COL11A1 | T94I | not provided | Conflicting interpretations of pathogenicity (Dec 30, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:103427475
- GRCh38:
- Chr1:102961919
| COL11A1 | G1000S, G1039S, G1051S, G923S | Stickler syndrome type 2, Marshall syndrome | Likely pathogenic (Jun 2, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:103573849
- GRCh38:
- Chr1:103108293
| COL11A1 | | Fibrochondrogenesis 1, Stickler syndrome type 2 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:103544224
- GRCh38:
- Chr1:103078668
| COL11A1 | A160T | Fibrochondrogenesis 1, not provided, Stickler syndrome type 2
| Conflicting interpretations of pathogenicity (Oct 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:103444283
- GRCh38:
- Chr1:102978727
| COL11A1 | P873L, P796L, P912L, P924L | Stickler syndrome type 2, Fibrochondrogenesis 1, not provided
| Conflicting interpretations of pathogenicity (Sep 6, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:103405870
- GRCh38:
- Chr1:102940314
| COL11A1 | | Stickler syndrome type 2, Fibrochondrogenesis 1, not provided
| Conflicting interpretations of pathogenicity (Oct 22, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:103404605
- GRCh38:
- Chr1:102939049
| COL11A1 | D1026N, D1103N, D1142N, D1154N | Stickler syndrome type 2, Fibrochondrogenesis 1 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:103345290
- GRCh38:
- Chr1:102879734
| COL11A1, LOC126805814 | E1702D, E1625D, E1741D, E1753D | Fibrochondrogenesis 1, Stickler syndrome type 2 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:103343736
- GRCh38:
- Chr1:102878180
| COL11A1 | | Fibrochondrogenesis 1, Stickler syndrome type 2 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:103343730
- GRCh38:
- Chr1:102878174
| COL11A1 | | Fibrochondrogenesis 1, Stickler syndrome type 2 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:103342274
- GRCh38:
- Chr1:102876718
| COL11A1 | | Fibrochondrogenesis 1, Stickler syndrome type 2 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:103342253
- GRCh38:
- Chr1:102876697
| COL11A1 | | not provided, Stickler syndrome type 2, Fibrochondrogenesis 1
| Benign/Likely benign (Jun 21, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:103342040
- GRCh38:
- Chr1:102876484
| COL11A1 | | Stickler syndrome type 2, Fibrochondrogenesis 1 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:103540314
- GRCh38:
- Chr1:103074758
| COL11A1 | V171M | Stickler syndrome type 2, Fibrochondrogenesis 1, not provided
| Conflicting interpretations of pathogenicity (Jul 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:103496813
- GRCh38:
- Chr1:103031257
| COL11A1 | | Stickler syndrome type 2, Fibrochondrogenesis 1, not provided
| Conflicting interpretations of pathogenicity (Oct 21, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:103487308
- GRCh38:
- Chr1:103021752
| COL11A1 | | Stickler syndrome type 2, Fibrochondrogenesis 1, not provided
| Conflicting interpretations of pathogenicity (Sep 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:103484383
- GRCh38:
- Chr1:103018827
| COL11A1 | | Stickler syndrome type 2, Fibrochondrogenesis 1, not provided
| Conflicting interpretations of pathogenicity (Oct 7, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:103343594
- GRCh38:
- Chr1:102878038
| COL11A1 | P1801L, P1762L, P1813L, P1685L | Fibrochondrogenesis 1, Stickler syndrome type 2 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:103343535
- GRCh38:
- Chr1:102877979
| COL11A1 | | Fibrochondrogenesis 1, Stickler syndrome type 2 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:103342699
- GRCh38:
- Chr1:102877143
| COL11A1 | | Stickler syndrome type 2, Fibrochondrogenesis 1 | Uncertain significance (Mar 2, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:103342674
- GRCh38:
- Chr1:102877118
| COL11A1 | | Stickler syndrome type 2, Fibrochondrogenesis 1 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:103548461
- GRCh38:
- Chr1:103082905
| COL11A1 | | Stickler syndrome type 2, Fibrochondrogenesis 1 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:103483441
- GRCh38:
- Chr1:103017885
| COL11A1 | | Fibrochondrogenesis 1, not provided, Stickler syndrome type 2
| Uncertain significance (Jul 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:103483381
- GRCh38:
- Chr1:103017825
| COL11A1 | D354H, D431H, D470H, D482H | Fibrochondrogenesis 1, Stickler syndrome type 2, not provided
| Conflicting interpretations of pathogenicity (Sep 18, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:103468037
- GRCh38:
- Chr1:103002481
| COL11A1 | G682S, G566S, G694S, G643S | Fibrochondrogenesis 1, Stickler syndrome type 2 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:103364240
- GRCh38:
- Chr1:102898684
| COL11A1 | | Fibrochondrogenesis 1, Stickler syndrome type 2 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:103343391
- GRCh38:
- Chr1:102877835
| COL11A1 | | Fibrochondrogenesis 1, Stickler syndrome type 2 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:103342493
- GRCh38:
- Chr1:102876937
| COL11A1 | | Fibrochondrogenesis 1, Stickler syndrome type 2 | Uncertain significance (Mar 2, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:103573982
- GRCh38:
- Chr1:103108426
| COL11A1 | | Fibrochondrogenesis 1, Stickler syndrome type 2 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:103573956
- GRCh38:
- Chr1:103108400
| COL11A1 | | Fibrochondrogenesis 1, Stickler syndrome type 2 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:103491798
- GRCh38:
- Chr1:103026242
| COL11A1 | T291A | Fibrochondrogenesis 1, not provided, Stickler syndrome type 2
| Conflicting interpretations of pathogenicity (Sep 6, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:103471422
- GRCh38:
- Chr1:103005866
| COL11A1 | P490L, P567L, P606L, P618L | Fibrochondrogenesis 1, not provided, Stickler syndrome type 2
| Conflicting interpretations of pathogenicity (Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:103471383
- GRCh38:
- Chr1:103005827
| COL11A1 | | Fibrochondrogenesis 1, not provided, Stickler syndrome type 2
| Conflicting interpretations of pathogenicity (Sep 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:103455066
- GRCh38:
- Chr1:102989510
| COL11A1 | | Fibrochondrogenesis 1, Stickler syndrome type 2 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:103453242
- GRCh38:
- Chr1:102987686
| COL11A1 | G817S, G701S, G778S, G829S | Fibrochondrogenesis 1, Stickler syndrome type 2 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:103453238
- GRCh38:
- Chr1:102987682
| COL11A1 | R818Q, R702Q, R779Q, R830Q | Fibrochondrogenesis 1, not provided, Stickler syndrome type 2
| Conflicting interpretations of pathogenicity (Oct 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:103449744
- GRCh38:
- Chr1:102984188
| COL11A1 | K836E, K848E, K720E, K797E | Fibrochondrogenesis 1, not provided, Stickler syndrome type 2
| Uncertain significance (Dec 6, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:103405924
- GRCh38:
- Chr1:102940368
| COL11A1 | P1076S, P1115S, P1127S, P999S | Fibrochondrogenesis 1, Stickler syndrome type 2 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:103347284
- GRCh38:
- Chr1:102881728
| COL11A1 | S1670N, S1682N, S1554N, S1631N | Fibrochondrogenesis 1, Stickler syndrome type 2 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:103345344
- GRCh38:
- Chr1:102879788
| COL11A1, LOC126805814 | | Fibrochondrogenesis 1, not provided, Stickler syndrome type 2
| Conflicting interpretations of pathogenicity (Aug 4, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:103343149
- GRCh38:
- Chr1:102877593
| COL11A1 | | Fibrochondrogenesis 1, Stickler syndrome type 2 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:103343089
- GRCh38:
- Chr1:102877533
| COL11A1 | | Fibrochondrogenesis 1, Stickler syndrome type 2 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:103343040
- GRCh38:
- Chr1:102877484
| COL11A1 | | Fibrochondrogenesis 1, Stickler syndrome type 2 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:103342345
- GRCh38:
- Chr1:102876789
| COL11A1 | | Fibrochondrogenesis 1, Stickler syndrome type 2 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:103380261
- GRCh38:
- Chr1:102914705
| COL11A1 | P1269L, P1308L, P1192L, P1320L | Fibrochondrogenesis 1, not provided, Stickler syndrome type 2
| Uncertain significance (Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:103379907
- GRCh38:
- Chr1:102914351
| COL11A1 | | Fibrochondrogenesis 1, Stickler syndrome type 2 | Conflicting interpretations of pathogenicity (Jun 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:103491143
- GRCh38:
- Chr1:103025587
| COL11A1 | | Stickler syndrome type 2, Fibrochondrogenesis 1, not provided
| Conflicting interpretations of pathogenicity (Aug 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:103544246
- GRCh38:
- Chr1:103078690
| COL11A1 | | not provided, Fibrochondrogenesis 1, Stickler syndrome type 2
| Conflicting interpretations of pathogenicity (Oct 5, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:103540340
- GRCh38:
- Chr1:103074784
| COL11A1 | | not provided, Fibrochondrogenesis 1, Stickler syndrome type 2
| Conflicting interpretations of pathogenicity (Oct 26, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:103470018
- GRCh38:
- Chr1:103004462
| COL11A1 | | not provided, Stickler syndrome type 2, Fibrochondrogenesis 1
| Conflicting interpretations of pathogenicity (May 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:103380311
- GRCh38:
- Chr1:102914755
| COL11A1 | | not provided, Stickler syndrome type 2, Fibrochondrogenesis 1
| Benign/Likely benign (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:103404602
- GRCh38:
- Chr1:102939046
| COL11A1 | K1143Q, K1155Q, K1027Q, K1104Q | Stickler syndrome type 2 | Uncertain significance (May 20, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:103428261
- GRCh38:
- Chr1:102962705
| COL11A1 | G1003D, G875D, G952D, G991D | Stickler syndrome type 2 | Likely pathogenic (Apr 20, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:103470193-103470201
- GRCh38:
- Chr1:103004637-103004645
| COL11A1 | | Stickler syndrome type 2 | Likely pathogenic (May 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:103404588-103404589
- GRCh38:
- Chr1:102939032-102939033
| COL11A1 | | not provided, Stickler syndrome type 2 | Pathogenic/Likely pathogenic (Jul 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:103355079
- GRCh38:
- Chr1:102889523
| COL11A1 | E1466*, E1478*, E1350*, E1427* | Stickler syndrome type 2 | Pathogenic (Sep 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:103491905
- GRCh38:
- Chr1:103026349
| COL11A1 | | Stickler syndrome type 2 | Uncertain significance (Nov 1, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:103380379-103380380
- GRCh38:
- Chr1:102914823-102914824
| COL11A1 | | not 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 |
| - GRCh37:
- Chr1:103364554
- GRCh38:
- Chr1:102898998
| COL11A1 | | Stickler syndrome type 2, not provided, Fibrochondrogenesis 1
| Conflicting interpretations of pathogenicity (Sep 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:103343671
- GRCh38:
- Chr1:102878115
| COL11A1 | | Stickler syndrome type 2, not provided, Fibrochondrogenesis 1
| Benign/Likely benign (Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:103428196
- GRCh38:
- Chr1:102962640
| COL11A1 | | Stickler syndrome type 2, not specified, not provided, Fibrochondrogenesis 1 | Benign/Likely benign (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:103354286
- GRCh38:
- Chr1:102888730
| COL11A1 | G1516V, G1528V, G1400V, G1477V | not provided, Stickler syndrome type 2, Marshall syndrome, Marshall syndrome, Hearing loss, autosomal dominant 37, Stickler syndrome type 2
| Pathogenic/Likely pathogenic (Feb 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:103352419
- GRCh38:
- Chr1:102886863
| COL11A1 | T1601N, T1613N, T1485N, T1562N | not provided, Connective tissue disorder, Stickler syndrome type 2, Fibrochondrogenesis 1 | Conflicting interpretations of pathogenicity (Oct 14, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:103354307
- GRCh38:
- Chr1:102888751
| COL11A1 | Q1509P, Q1521P, Q1393P, Q1470P | Stickler syndrome type 2, not provided | Uncertain significance (Sep 9, 2022) | criteria provided, multiple submitters, no conflicts |