| - GRCh37:
- Chr16:88499490-88499499
- GRCh38:
- Chr16:88433082-88433091
| ZNF469 | R1871fs | Brittle cornea syndrome 1 | Likely pathogenic
(Apr 4, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88501750-88501751
- GRCh38:
- Chr16:88435342-88435343
| ZNF469 | H2626fs | Brittle cornea syndrome 1 | Likely pathogenic
(Mar 8, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88504622
- GRCh38:
- Chr16:88438214
| ZNF469 | A3582P | Brittle cornea syndrome 1 | Uncertain significance
(Jan 17, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88503984
- GRCh38:
- Chr16:88437576
| ZNF469 | R3369P | Brittle cornea syndrome 1 | Uncertain significance
(Jul 16, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88498313
- GRCh38:
- Chr16:88431905
| ZNF469 | G1479R | Brittle cornea syndrome 1 | Uncertain significance
(Jun 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88497985-88497986
- GRCh38:
- Chr16:88431577-88431578
| ZNF469 | P1373fs | Brittle cornea syndrome 1 | Likely pathogenic
(Jan 19, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88499280
- GRCh38:
- Chr16:88432872
| ZNF469 | V1801fs | Brittle cornea syndrome 1 | Likely pathogenic
(Jan 24, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88494188
- GRCh38:
- Chr16:88427780
| ZNF469 | A104T | Brittle cornea syndrome 1, not provided | Uncertain significance
(May 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88495707
- GRCh38:
- Chr16:88429299
| ZNF469 | P610L | Brittle cornea syndrome 1 | Uncertain significance
(Oct 19, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88496792
- GRCh38:
- Chr16:88430384
| ZNF469 | G972S | Cardiovascular phenotype, Brittle cornea syndrome 1 | Uncertain significance
(Jul 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88497074-88497075
- GRCh38:
- Chr16:88430666-88430667
| ZNF469 | R1079fs | Brittle cornea syndrome 1 | Uncertain significance
(May 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88502421
- GRCh38:
- Chr16:88436013
| ZNF469 | D2848G | Brittle cornea syndrome 1 | Benign
(Dec 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88504683
- GRCh38:
- Chr16:88438275
| ZNF469 | P3602L | not provided, Brittle cornea syndrome 1, Cardiovascular phenotype
| Uncertain significance
(Dec 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88499667
- GRCh38:
- Chr16:88433259
| ZNF469 | Q1930R | Brittle cornea syndrome 1 | Uncertain significance
(Feb 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88502305
- GRCh38:
- Chr16:88435897
| ZNF469 | A2810fs | Brittle cornea syndrome 1 | Likely pathogenic
(Apr 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88504232
- GRCh38:
- Chr16:88437824
| ZNF469 | G3452S | not provided, Brittle cornea syndrome 1, Cardiovascular phenotype
| Uncertain significance
(Dec 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88497489
- GRCh38:
- Chr16:88431081
| ZNF469 | Q1204R | Brittle cornea syndrome 1, Cardiovascular phenotype | Uncertain significance
(Feb 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88495677
- GRCh38:
- Chr16:88429269
| ZNF469 | T600M | Brittle cornea syndrome 1 | Uncertain significance
(Feb 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88504894
- GRCh38:
- Chr16:88438486
| ZNF469 | K3672N | Brittle cornea syndrome 1 | Uncertain significance
(Feb 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88501513
- GRCh38:
- Chr16:88435105
| ZNF469 | | Brittle cornea syndrome 1, not provided | Likely benign
(Nov 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88498825
- GRCh38:
- Chr16:88432417
| ZNF469 | | not provided, Cardiovascular phenotype, Brittle cornea syndrome 1
| Likely benign
(Oct 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88504916
- GRCh38:
- Chr16:88438508
| ZNF469 | S3680T | Brittle cornea syndrome 1, not provided | Uncertain significance
(May 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88503819
- GRCh38:
- Chr16:88437411
| ZNF469 | D3314G | Brittle cornea syndrome 1, not provided | Uncertain significance
(May 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88494819
- GRCh38:
- Chr16:88428411
| ZNF469 | P314L | Cardiovascular phenotype, Brittle cornea syndrome 1, not provided
| Uncertain significance
(Nov 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88503801
- GRCh38:
- Chr16:88437393
| ZNF469 | T3308N | not provided, Brittle cornea syndrome 1 | Uncertain significance
(Jun 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88504251
- GRCh38:
- Chr16:88437843
| ZNF469 | A3458G | not provided, Brittle cornea syndrome 1, Inborn genetic diseases
| Uncertain significance
(Jun 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88502897
- GRCh38:
- Chr16:88436489
| ZNF469 | D3007N | not provided, Brittle cornea syndrome 1, Cardiovascular phenotype
| Uncertain significance
(Feb 5, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88494640-88494641
- GRCh38:
- Chr16:88428232-88428233
| ZNF469 | | not provided, Brittle cornea syndrome 1 | Uncertain significance
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88503198
- GRCh38:
- Chr16:88436790
| ZNF469 | P3107L | Cardiovascular phenotype, Brittle cornea syndrome 1, not provided
| Uncertain significance
(Mar 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88502228
- GRCh38:
- Chr16:88435820
| ZNF469 | R2784* | Brittle cornea syndrome 1, not provided | Pathogenic/Likely pathogenic
(Dec 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88498850
- GRCh38:
- Chr16:88432442
| ZNF469 | W1658R | Cardiovascular phenotype, Ehlers-Danlos syndrome, not provided,
Brittle cornea syndrome 1 | Uncertain significance
(Apr 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88498325
- GRCh38:
- Chr16:88431917
| ZNF469 | A1483T | not provided, Brittle cornea syndrome 1 | Uncertain significance
(Mar 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88501926
- GRCh38:
- Chr16:88435518
| ZNF469 | G2683E | not provided | Uncertain significance
(Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88497210
- GRCh38:
- Chr16:88430802
| ZNF469 | F1111S | not provided, Cardiovascular phenotype | Uncertain significance
(Nov 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88504585
- GRCh38:
- Chr16:88438177
| ZNF469 | C3569* | Brittle cornea syndrome 1 | Likely pathogenic
(Dec 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88501190
- GRCh38:
- Chr16:88434782
| ZNF469 | P2438A | not provided, Brittle cornea syndrome 1, Cardiovascular phenotype
| Uncertain significance
(Sep 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88494554
- GRCh38:
- Chr16:88428146
| ZNF469 | E226K | Brittle cornea syndrome 1, not provided, Cardiovascular phenotype
| Conflicting interpretations of pathogenicity
(May 19, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:88501218
- GRCh38:
- Chr16:88434810
| ZNF469 | R2447T | Cardiovascular phenotype, Brittle cornea syndrome 1 | Conflicting interpretations of pathogenicity
(Jan 10, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:88502503-88502505
- GRCh38:
- Chr16:88436095-88436097
| ZNF469 | H2876R | Brittle cornea syndrome 1, Cardiovascular phenotype, not provided
| Benign/Likely benign
(Jun 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88505015
- GRCh38:
- Chr16:88438607
| ZNF469 | R3713C | Cardiovascular phenotype, Brittle cornea syndrome 1, not provided
| Benign/Likely benign
(Aug 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88499415
- GRCh38:
- Chr16:88433007
| ZNF469 | T1846M | Cardiovascular phenotype, Brittle cornea syndrome 1, not provided
| Benign/Likely benign
(Sep 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88499740
- GRCh38:
- Chr16:88433332
| ZNF469 | | Cardiovascular phenotype, not provided, Brittle cornea syndrome 1
| Benign/Likely benign
(Jul 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88494623
- GRCh38:
- Chr16:88428215
| ZNF469 | G249R | Cardiovascular phenotype, not provided, Brittle cornea syndrome 1
| Conflicting interpretations of pathogenicity
(Oct 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:88504077
- GRCh38:
- Chr16:88437669
| ZNF469 | P3400L | Brittle cornea syndrome 1, not specified, Cardiovascular phenotype,
not provided | Uncertain significance
(Sep 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88505140
- GRCh38:
- Chr16:88438732
| ZNF469 | | Cardiovascular phenotype, not provided, Brittle cornea syndrome 1
| Likely benign
(Feb 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88500292
- GRCh38:
- Chr16:88433884
| ZNF469 | | Cardiovascular phenotype, Brittle cornea syndrome 1, not provided
| Benign/Likely benign
(Aug 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88502336
- GRCh38:
- Chr16:88435928
| ZNF469 | G2820S | Cardiovascular phenotype, not provided, Brittle cornea syndrome 1,
Ehlers-Danlos syndrome | Uncertain significance
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88497382
- GRCh38:
- Chr16:88430974
| ZNF469 | | Cardiovascular phenotype, Brittle cornea syndrome 1, not provided
| Benign/Likely benign
(Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88500980
- GRCh38:
- Chr16:88434572
| ZNF469 | G2368S | not provided, Brittle cornea syndrome 1, Cardiovascular phenotype
| Conflicting interpretations of pathogenicity
(Feb 28, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:88498385
- GRCh38:
- Chr16:88431977
| ZNF469 | L1503V | Cardiovascular phenotype, not provided, Brittle cornea syndrome 1,
Ehlers-Danlos syndrome | Conflicting interpretations of pathogenicity
(Jul 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:88504595
- GRCh38:
- Chr16:88438187
| ZNF469 | G3573R | Ehlers-Danlos syndrome, Brittle cornea syndrome 1, Cardiovascular phenotype,
not provided | Conflicting interpretations of pathogenicity
(Jul 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:88503351
- GRCh38:
- Chr16:88436943
| ZNF469 | L3158P | Cardiovascular phenotype, Brittle cornea syndrome 1 | Uncertain significance
(May 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88505042
- GRCh38:
- Chr16:88438634
| ZNF469 | A3722T | Ehlers-Danlos syndrome, Brittle cornea syndrome 1, Cardiovascular phenotype,
not provided | Conflicting interpretations of pathogenicity
(May 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:88504298
- GRCh38:
- Chr16:88437890
| ZNF469 | R3474W | Brittle cornea syndrome 1, Cardiovascular phenotype, not provided
| Uncertain significance
(May 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88502316
- GRCh38:
- Chr16:88435908
| ZNF469 | T2813N | Brittle cornea syndrome 1 | Uncertain significance
(Jun 3, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88500856-88500858
- GRCh38:
- Chr16:88434448-88434450
| ZNF469 | S2328del | not provided, Brittle cornea syndrome 1, Cardiovascular phenotype
| Uncertain significance
(Jul 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88499175
- GRCh38:
- Chr16:88432767
| ZNF469 | R1766Q | Brittle cornea syndrome 1, not provided | Uncertain significance
(Jul 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88498136
- GRCh38:
- Chr16:88431728
| ZNF469 | E1420K | Inborn genetic diseases, not provided, Brittle cornea syndrome 1
| Uncertain significance
(Nov 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88497360
- GRCh38:
- Chr16:88430952
| ZNF469 | S1161Y | Brittle cornea syndrome 1 | Uncertain significance
(Feb 26, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88504689
- GRCh38:
- Chr16:88438281
| ZNF469 | P3604L | Cardiovascular phenotype, not specified, Brittle cornea syndrome 1
| Uncertain significance
(Nov 2, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88497185
- GRCh38:
- Chr16:88430777
| ZNF469 | Q1103* | Brittle cornea syndrome 1 | Pathogenic
(Aug 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88495462
- GRCh38:
- Chr16:88429054
| ZNF469 | G529fs | Brittle cornea syndrome 1 | Likely pathogenic
(Aug 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88494959
- GRCh38:
- Chr16:88428551
| ZNF469 | A361fs | Brittle cornea syndrome 1 | Likely pathogenic
(Aug 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88503753-88503754
- GRCh38:
- Chr16:88437345-88437346
| ZNF469 | A3293fs | Brittle cornea syndrome 1 | Likely pathogenic
(Aug 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88495317
- GRCh38:
- Chr16:88428909
| ZNF469 | L482fs | Brittle cornea syndrome 1 | Pathogenic
(Aug 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88505196
- GRCh38:
- Chr16:88438788
| ZNF469 | R3773Q | not provided, Cardiovascular phenotype, Brittle cornea syndrome 1
| Conflicting interpretations of pathogenicity
(Jul 6, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:88504202
- GRCh38:
- Chr16:88437794
| ZNF469 | R3442fs | Brittle cornea syndrome 1, Cardiovascular phenotype, Ehlers-Danlos syndrome,
not provided | Conflicting interpretations of pathogenicity
(Sep 5, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:88505423
- GRCh38:
- Chr16:88439015
| ZNF469 | R3849W | Cardiovascular phenotype, not provided, Brittle cornea syndrome 1
| Uncertain significance
(Oct 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88499657
- GRCh38:
- Chr16:88433249
| ZNF469 | P1927S | Cardiovascular phenotype, not provided, Brittle cornea syndrome 1
| Uncertain significance
(Mar 18, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88495146
- GRCh38:
- Chr16:88428738
| ZNF469 | P423L | Cardiovascular phenotype | Likely benign
(Sep 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88498992
- GRCh38:
- Chr16:88432584
| ZNF469 | T1705I | not provided, Brittle cornea syndrome 1 | Uncertain significance
(Mar 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88505699
- GRCh38:
- Chr16:88439291
| ZNF469 | T3941P | Brittle cornea syndrome 1 | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr16:88503410
- GRCh38:
- Chr16:88437002
| ZNF469 | G3178S | Brittle cornea syndrome 1, Thoracic scoliosis, Soft skin,
Poor wound healing, Striae distensae, Spontaneous hematomas,
Myopia, Gastroesophageal reflux, Joint hypermobility
| Uncertain significance
(Jan 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88496447
- GRCh38:
- Chr16:88430039
| ZNF469 | N857D | Cardiovascular phenotype, Brittle cornea syndrome 1, Thoracic scoliosis,
Soft skin, Poor wound healing, Striae distensae,
Spontaneous hematomas, Myopia, Gastroesophageal reflux,
Joint hypermobility | Uncertain significance
(Mar 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88494205
- GRCh38:
- Chr16:88427797
| ZNF469 | | Ehlers-Danlos syndrome, Cardiovascular phenotype, Brittle cornea syndrome 1,
not provided | Benign/Likely benign
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88500678
- GRCh38:
- Chr16:88434270
| ZNF469 | R2267Q | Cardiovascular phenotype, not provided, Brittle cornea syndrome 1
| Benign/Likely benign
(Oct 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88497592
- GRCh38:
- Chr16:88431184
| ZNF469 | | not provided, Brittle cornea syndrome 1 | Benign/Likely benign
(Sep 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88501942
- GRCh38:
- Chr16:88435534
| ZNF469 | | Cardiovascular phenotype, Ehlers-Danlos syndrome, Brittle cornea syndrome 1,
not provided | Conflicting interpretations of pathogenicity
(Oct 8, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:88505122
- GRCh38:
- Chr16:88438714
| ZNF469 | | Cardiovascular phenotype, not provided, Brittle cornea syndrome 1
| Benign/Likely benign
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88501813
- GRCh38:
- Chr16:88435405
| ZNF469 | | Cardiovascular phenotype, not provided, Brittle cornea syndrome 1
| Benign/Likely benign
(Oct 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88502746
- GRCh38:
- Chr16:88436338
| ZNF469 | | not provided, Brittle cornea syndrome 1, Cardiovascular phenotype,
Ehlers-Danlos syndrome | Benign/Likely benign
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88499914
- GRCh38:
- Chr16:88433506
| ZNF469 | | Cardiovascular phenotype, not provided, Brittle cornea syndrome 1,
not specified | Benign/Likely benign
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88499702
- GRCh38:
- Chr16:88433294
| ZNF469 | G1942R | not provided, Brittle cornea syndrome 1, Cardiovascular phenotype
| Benign/Likely benign
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88497219
- GRCh38:
- Chr16:88430811
| ZNF469 | R1114L | not provided, Brittle cornea syndrome 1, Cardiovascular phenotype,
Ehlers-Danlos syndrome | Benign/Likely benign
(Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88495734
- GRCh38:
- Chr16:88429326
| ZNF469 | S619I | Cardiovascular phenotype, not provided, Brittle cornea syndrome 1
| Uncertain significance
(May 27, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88498649
- GRCh38:
- Chr16:88432241
| ZNF469 | A1591S | Cardiovascular phenotype, not provided, Brittle cornea syndrome 1
| Uncertain significance
(Feb 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88503194
- GRCh38:
- Chr16:88436786
| ZNF469 | R3106W | not provided, Cardiovascular phenotype, Brittle cornea syndrome 1
| Uncertain significance
(Jun 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88502477
- GRCh38:
- Chr16:88436069
| ZNF469 | G2867S | not provided, Brittle cornea syndrome 1 | Uncertain significance
(Dec 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88494463
- GRCh38:
- Chr16:88428055
| ZNF469 | N195K | not provided, Brittle cornea syndrome 1 | Uncertain significance
(Dec 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88504640
- GRCh38:
- Chr16:88438232
| ZNF469 | G3588R | Cardiovascular phenotype, not provided, Brittle cornea syndrome 1
| Conflicting interpretations of pathogenicity
(Mar 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:88502259
- GRCh38:
- Chr16:88435851
| ZNF469 | T2794M | not provided, Cardiovascular phenotype, Brittle cornea syndrome 1
| Benign/Likely benign
(Oct 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88501489
- GRCh38:
- Chr16:88435081
| ZNF469 | E2537D | not provided, Brittle cornea syndrome 1, Cardiovascular phenotype
| Benign/Likely benign
(Oct 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88502583
- GRCh38:
- Chr16:88436175
| ZNF469 | T2902M | Ehlers-Danlos syndrome, not provided, Cardiovascular phenotype,
Brittle cornea syndrome 1 | Conflicting interpretations of pathogenicity
(Jul 3, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:88495361
- GRCh38:
- Chr16:88428953
| ZNF469 | P495S | Ehlers-Danlos syndrome, not provided, Cardiovascular phenotype,
Brittle cornea syndrome 1 | Conflicting interpretations of pathogenicity
(Jan 11, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:88505592
- GRCh38:
- Chr16:88439184
| ZNF469 | P3905R | not specified, Brittle cornea syndrome 1 | Uncertain significance
(Jun 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88499292
- GRCh38:
- Chr16:88432884
| ZNF469 | P1805H | Cardiovascular phenotype, not provided, Brittle cornea syndrome 1
| Benign/Likely benign
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88497330
- GRCh38:
- Chr16:88430922
| ZNF469 | A1151V | Cardiovascular phenotype, not specified, Brittle cornea syndrome 1,
not provided | Uncertain significance
(Sep 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88496531
- GRCh38:
- Chr16:88430123
| ZNF469 | L885V | not provided, Cardiovascular phenotype, Ehlers-Danlos syndrome,
Brittle cornea syndrome 1 | Benign/Likely benign
(Oct 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:88503246
- GRCh38:
- Chr16:88436838
| ZNF469 | R3123H | not provided, Brittle cornea syndrome 1, not specified,
Cardiovascular phenotype | Conflicting interpretations of pathogenicity
(Aug 21, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:88494414
- GRCh38:
- Chr16:88428006
| ZNF469 | G179A | not specified, Brittle cornea syndrome 1, Cardiovascular phenotype
| Uncertain significance
(Aug 3, 2022) | criteria provided, multiple submitters, no conflicts |