| - GRCh37:
- Chr21:46929347-46929354
- GRCh38:
- Chr21:45509433-45509440
| COL18A1, SLC19A1 | H1110fs, H1287fs, H1522fs | Knobloch syndrome | Pathogenic
(Jun 5, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr3:196547391
- GRCh38:
- Chr3:196820520
| PAK2 | E435K | Knobloch syndrome | Pathogenic
(Jan 1, 2004) | no assertion criteria provided |
| - GRCh37:
- Chr21:46917558-46917559
- GRCh38:
- Chr21:45497644-45497645
| COL18A1 | G1072fs, G1307fs, G892fs | not provided, Knobloch syndrome | Pathogenic
(May 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:46897844-46897845
- GRCh38:
- Chr21:45477930-45477931
| COL18A1 | P581fs, P401fs, P816fs | Knobloch syndrome 1, Knobloch syndrome, not provided
| Pathogenic
(Sep 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:46906898
- GRCh38:
- Chr21:45486984
| COL18A1 | A1024T, A609T, A789T | not provided, Knobloch syndrome | Uncertain significance
(Aug 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:46929337
- GRCh38:
- Chr21:45509423
| SLC19A1, COL18A1 | R1106Q, R1283Q, R1518Q | Knobloch syndrome, not provided | Uncertain significance
(Jun 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:46929330-46929331
- GRCh38:
- Chr21:45509416-45509417
| COL18A1, SLC19A1 | P1104W, P1281W, P1516W | Knobloch syndrome | Uncertain significance
(Aug 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46924435-46924448
- GRCh38:
- Chr21:45504521-45504534
| COL18A1, SLC19A1 | | Glaucoma, primary closed-angle, Knobloch syndrome | Benign
(Jul 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46876306
- GRCh38:
- Chr21:45456392
| COL18A1 | A288T | Glaucoma, primary closed-angle, not provided, Knobloch syndrome
| Benign
(Jul 22, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:46899999-46900000
- GRCh38:
- Chr21:45480085-45480086
| COL18A1 | G446fs, G626fs, G861fs | Knobloch syndrome | Likely pathogenic
(Jun 19, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46876169
- GRCh38:
- Chr21:45456255
| COL18A1 | S242* | Knobloch syndrome | Likely pathogenic
(May 19, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46930021
- GRCh38:
- Chr21:45510107
| COL18A1, SLC19A1 | R1180Q, R1357Q, R1592Q | not provided, Knobloch syndrome | Conflicting interpretations of pathogenicity
(Oct 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr21:46929486
- GRCh38:
- Chr21:45509572
| COL18A1, SLC19A1 | A1333T, A1156T, A1568T | not provided, Knobloch syndrome | Uncertain significance
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:46876025
- GRCh38:
- Chr21:45456111
| COL18A1 | S194L | not provided, Knobloch syndrome, Glaucoma, primary closed-angle,
Inborn genetic diseases | Uncertain significance
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:46899828
- GRCh38:
- Chr21:45479914
| COL18A1 | P421S, P601S, P836S | not provided, Knobloch syndrome | Uncertain significance
(Jan 13, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:46930014-46930015
- GRCh38:
- Chr21:45510100-45510101
| SLC19A1, COL18A1 | G1178fs, G1355fs, G1590fs | Knobloch syndrome | Pathogenic
(Jan 23, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46897813
- GRCh38:
- Chr21:45477899
| COL18A1 | G802fs, G567fs, G387fs | not provided, Knobloch syndrome | Pathogenic
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:46907403
- GRCh38:
- Chr21:45487489
| COL18A1 | R1041*, R806*, R626* | Knobloch syndrome | Likely pathogenic
(May 3, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46916987
- GRCh38:
- Chr21:45497073
| COL18A1 | | not provided, Knobloch syndrome | Conflicting interpretations of pathogenicity
(Aug 8, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr21:46916473
- GRCh38:
- Chr21:45496559
| COL18A1 | | not provided, Knobloch syndrome | Conflicting interpretations of pathogenicity
(Sep 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr21:46916415
- GRCh38:
- Chr21:45496501
| COL18A1 | G1017A, G1252A, G837A | not provided, Knobloch syndrome | Uncertain significance
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:46915328
- GRCh38:
- Chr21:45495414
| COL18A1 | | not provided, Knobloch syndrome | Conflicting interpretations of pathogenicity
(Nov 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr21:46911132
- GRCh38:
- Chr21:45491218
| COL18A1 | | not provided, Knobloch syndrome | Conflicting interpretations of pathogenicity
(Oct 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr21:46899995
- GRCh38:
- Chr21:45480081
| COL18A1 | | not provided, Knobloch syndrome | Conflicting interpretations of pathogenicity
(Sep 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr21:46899883
- GRCh38:
- Chr21:45479969
| COL18A1 | | not provided, Knobloch syndrome | Uncertain significance
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:46893833
- GRCh38:
- Chr21:45473919
| COL18A1 | R406C, R641C, R226C | not provided, Knobloch syndrome | Uncertain significance
(Jul 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:46933419
- GRCh38:
- Chr21:45513505
| COL18A1, SLC19A1 | | Knobloch syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46933374
- GRCh38:
- Chr21:45513460
| COL18A1, SLC19A1 | | Knobloch syndrome | Uncertain significance
(Mar 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46933312
- GRCh38:
- Chr21:45513398
| COL18A1, SLC19A1 | | Knobloch syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46933266
- GRCh38:
- Chr21:45513352
| COL18A1, SLC19A1 | | Knobloch syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46933230
- GRCh38:
- Chr21:45513316
| COL18A1, SLC19A1 | | Knobloch syndrome | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46932438
- GRCh38:
- Chr21:45512524
| SLC19A1, COL18A1 | | Knobloch syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46932407
- GRCh38:
- Chr21:45512493
| COL18A1, SLC19A1 | | Knobloch syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46932325
- GRCh38:
- Chr21:45512411
| SLC19A1, COL18A1 | | Knobloch syndrome | Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46932324
- GRCh38:
- Chr21:45512410
| SLC19A1, COL18A1 | | Knobloch syndrome | Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46915268
- GRCh38:
- Chr21:45495354
| COL18A1 | | not provided, Knobloch syndrome | Conflicting interpretations of pathogenicity
(Oct 6, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr21:46914829
- GRCh38:
- Chr21:45494915
| COL18A1 | | Inborn genetic diseases, not provided, Knobloch syndrome
| Uncertain significance
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:46914824
- GRCh38:
- Chr21:45494910
| COL18A1 | R990W, R1225W, R810W | Inborn genetic diseases, not provided, Knobloch syndrome
| Uncertain significance
(Sep 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:46914784
- GRCh38:
- Chr21:45494870
| COL18A1 | | Knobloch syndrome, not provided | Conflicting interpretations of pathogenicity
(Oct 5, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr21:46909425
- GRCh38:
- Chr21:45489511
| COL18A1 | P1065L, P830L, P650L | Knobloch syndrome, not provided | Uncertain significance
(Aug 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:46907418
- GRCh38:
- Chr21:45487504
| COL18A1 | P1046S, P811S, P631S | not provided, Knobloch syndrome | Uncertain significance
(Aug 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:46907346
- GRCh38:
- Chr21:45487432
| COL18A1 | | not provided, Knobloch syndrome | Conflicting interpretations of pathogenicity
(Oct 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr21:46897823
- GRCh38:
- Chr21:45477909
| COL18A1 | Q569E, Q804E, Q389E | not provided, Knobloch syndrome | Uncertain significance
(Mar 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:46897817
- GRCh38:
- Chr21:45477903
| COL18A1 | G567R, G802R, G387R | not provided, Knobloch syndrome | Uncertain significance
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:46897813
- GRCh38:
- Chr21:45477899
| COL18A1 | | not provided, Knobloch syndrome | Likely benign
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:46897790
- GRCh38:
- Chr21:45477876
| COL18A1 | A558T, A793T, A378T | Inborn genetic diseases, not provided, Knobloch syndrome
| Uncertain significance
(May 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:46897715
- GRCh38:
- Chr21:45477801
| COL18A1 | R533W, R768W, R353W | not provided, Knobloch syndrome | Uncertain significance
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:46888647
- GRCh38:
- Chr21:45468733
| COL18A1 | G380S, G615S, G200S | not provided, Knobloch syndrome | Uncertain significance
(Jul 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:46888627
- GRCh38:
- Chr21:45468713
| COL18A1 | R608Q, R373Q, R193Q | Inborn genetic diseases, not provided, Knobloch syndrome
| Conflicting interpretations of pathogenicity
(May 3, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr21:46888545
- GRCh38:
- Chr21:45468631
| COL18A1 | A346T, A581T, A166T | not provided, Knobloch syndrome | Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:46888340
- GRCh38:
- Chr21:45468426
| COL18A1 | | Knobloch syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46933136
- GRCh38:
- Chr21:45513222
| COL18A1, SLC19A1 | | Knobloch syndrome | Uncertain significance
(Apr 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46933044
- GRCh38:
- Chr21:45513130
| COL18A1, SLC19A1 | | Knobloch syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46933030
- GRCh38:
- Chr21:45513116
| SLC19A1, COL18A1 | | Knobloch syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46932318
- GRCh38:
- Chr21:45512404
| COL18A1, SLC19A1 | | Knobloch syndrome | Benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46932743
- GRCh38:
- Chr21:45512829
| COL18A1, SLC19A1 | | Knobloch syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46912642
- GRCh38:
- Chr21:45492728
| COL18A1 | | not provided, Knobloch syndrome | Conflicting interpretations of pathogenicity
(Sep 15, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr21:46912469
- GRCh38:
- Chr21:45492555
| COL18A1 | | not provided, Knobloch syndrome | Conflicting interpretations of pathogenicity
(Oct 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr21:46906771
- GRCh38:
- Chr21:45486857
| COL18A1 | | not provided, Knobloch syndrome | Conflicting interpretations of pathogenicity
(Oct 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr21:46902730
- GRCh38:
- Chr21:45482816
| COL18A1 | H746N, H981N, H566N | Knobloch syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46902717
- GRCh38:
- Chr21:45482803
| COL18A1 | | not provided, Knobloch syndrome | Benign
(Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:46901954
- GRCh38:
- Chr21:45482040
| COL18A1 | | not provided, Knobloch syndrome | Conflicting interpretations of pathogenicity
(Jun 25, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr21:46900755
- GRCh38:
- Chr21:45480841
| COL18A1 | G947R, G712R, G532R | not provided, Knobloch syndrome | Uncertain significance
(Feb 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:46897666
- GRCh38:
- Chr21:45477752
| COL18A1 | | not provided, Knobloch syndrome | Conflicting interpretations of pathogenicity
(Oct 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr21:46896407
- GRCh38:
- Chr21:45476493
| COL18A1 | | Knobloch syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46896339
- GRCh38:
- Chr21:45476425
| COL18A1 | | not provided, Knobloch syndrome | Conflicting interpretations of pathogenicity
(Oct 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr21:46896321
- GRCh38:
- Chr21:45476407
| COL18A1 | | not provided, Knobloch syndrome | Conflicting interpretations of pathogenicity
(Aug 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr21:46888236
- GRCh38:
- Chr21:45468322
| COL18A1 | D243N, D478N, D63N | not provided, Knobloch syndrome | Uncertain significance
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:46825378
- GRCh38:
- Chr21:45405463
| BNAT1, COL18A1 | | not provided, Knobloch syndrome | Conflicting interpretations of pathogenicity
(Nov 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr21:46825313
- GRCh38:
- Chr21:45405398
| BNAT1, COL18A1 | | not provided, Knobloch syndrome | Uncertain significance
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:46825311
- GRCh38:
- Chr21:45405396
| BNAT1, COL18A1 | | Knobloch syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46933547
- GRCh38:
- Chr21:45513633
| SLC19A1, COL18A1 | | Knobloch syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46933521
- GRCh38:
- Chr21:45513607
| COL18A1, SLC19A1 | | Knobloch syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46932603
- GRCh38:
- Chr21:45512689
| COL18A1, SLC19A1 | | Knobloch syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46924383
- GRCh38:
- Chr21:45504469
| COL18A1, SLC19A1 | | Knobloch syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46924318
- GRCh38:
- Chr21:45504404
| COL18A1, SLC19A1 | | Knobloch syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46911242
- GRCh38:
- Chr21:45491328
| COL18A1 | | Knobloch syndrome, not provided | Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:46911241
- GRCh38:
- Chr21:45491327
| COL18A1 | | Knobloch syndrome, not provided | Conflicting interpretations of pathogenicity
(Sep 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr21:46911178
- GRCh38:
- Chr21:45491264
| COL18A1 | P883S, P1118S, P703S | Knobloch syndrome, not provided | Uncertain significance
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:46900703
- GRCh38:
- Chr21:45480789
| COL18A1 | | not provided, Knobloch syndrome | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr21:46900411
- GRCh38:
- Chr21:45480497
| COL18A1 | G892R, G657R, G477R | Knobloch syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46896303
- GRCh38:
- Chr21:45476389
| COL18A1 | | Knobloch syndrome, not provided, not specified
| Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:46825308
- GRCh38:
- Chr21:45405393
| BNAT1, COL18A1 | | not provided, Knobloch syndrome | Uncertain significance
(Mar 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:46825144
- GRCh38:
- Chr21:45405229
| BNAT1, COL18A1 | | Knobloch syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46825119
- GRCh38:
- Chr21:45405204
| BNAT1, COL18A1 | | Knobloch syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46825108
- GRCh38:
- Chr21:45405193
| BNAT1, COL18A1 | | Knobloch syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46888638
- GRCh38:
- Chr21:45468724
| COL18A1 | L377fs, L612fs, L197fs | Glaucoma, primary closed-angle, Knobloch syndrome | Pathogenic
(May 11, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr21:46888316
- GRCh38:
- Chr21:45468402
| COL18A1 | R270fs, R505fs, R90fs | Glaucoma, primary closed-angle, Knobloch syndrome | Pathogenic
(May 11, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr21:46888477-46888478
- GRCh38:
- Chr21:45468563-45468564
| COL18A1 | A559fs, A324fs, A144fs | Knobloch syndrome | Pathogenic
(Jun 23, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr21:46924426-46924443
- GRCh38:
- Chr21:45504512-45504529
| COL18A1, SLC19A1 | | not provided, Knobloch syndrome | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:46918277
- GRCh38:
- Chr21:45498363
| COL18A1 | | Knobloch syndrome | Benign
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46911299-46911300
- GRCh38:
- Chr21:45491385-45491386
| COL18A1 | | not provided, Knobloch syndrome | Benign
(May 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:46932115-46932116
- GRCh38:
- Chr21:45512201-45512202
| COL18A1, SLC19A1 | W1453fs, W1688fs, W1276fs | Knobloch syndrome | Likely pathogenic
(Aug 25, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr21:46913465
- GRCh38:
- Chr21:45493551
| COL18A1 | | not provided, Knobloch syndrome | Benign/Likely benign
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:46908340
- GRCh38:
- Chr21:45488426
| COL18A1 | | not provided, Knobloch syndrome | Conflicting interpretations of pathogenicity
(Oct 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr21:46930001-46930002
- GRCh38:
- Chr21:45510087-45510088
| COL18A1, SLC19A1 | L1352fs, L1587fs, L1175fs | Knobloch syndrome | Pathogenic
(Sep 4, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr21:46927499
- GRCh38:
- Chr21:45507585
| COL18A1, SLC19A1 | R1493*, R1258*, R1081* | not provided, Knobloch syndrome | Pathogenic/Likely pathogenic
(Aug 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:46924382-46924383
- GRCh38:
- Chr21:45504468-45504469
| SLC19A1, COL18A1 | G1343fs, G1108fs, G928fs | Knobloch syndrome | Uncertain significance
(Oct 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46925150-46925159
- GRCh38:
- Chr21:45505236-45505245
| SLC19A1, COL18A1 | P1405fs, P1170fs, P993fs | not provided, Knobloch syndrome | Pathogenic
(Aug 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:46931142
- GRCh38:
- Chr21:45511228
| COL18A1, SLC19A1 | | Knobloch syndrome, not provided | Conflicting interpretations of pathogenicity
(Feb 7, 2022) | criteria provided, conflicting interpretations |