| - GRCh37:
- Chr6:10410133
- GRCh38:
- Chr6:10409900
| TFAP2A | | Branchiooculofacial syndrome | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr6:10404757
- GRCh38:
- Chr6:10404524
| LOC121740638, TFAP2A, TFAP2A-AS2 | G244C, G246C, G252C | Branchiooculofacial syndrome | Uncertain significance
(Apr 17, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr6:10410400
- GRCh38:
- Chr6:10410167
| TFAP2A | P66T, P68T, P74T | Branchiooculofacial syndrome | Uncertain significance
(Dec 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:10410139
- GRCh38:
- Chr6:10409906
| TFAP2A | V153fs, V155fs, V161fs | Branchiooculofacial syndrome | Pathogenic
(Jun 11, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr6:10404824
- GRCh38:
- Chr6:10404591
| LOC121740638, TFAP2A, TFAP2A-AS2 | Y221*, Y223*, Y229* | Branchiooculofacial syndrome | Likely pathogenic
(Nov 12, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr6:10404772
- GRCh38:
- Chr6:10404539
| LOC121740638, TFAP2A, TFAP2A-AS2 | N239D, N241D, N247D | Branchiooculofacial syndrome | Likely pathogenic
(Aug 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:10410479
- GRCh38:
- Chr6:10410246
| TFAP2A | | not provided, Branchiooculofacial syndrome | Benign/Likely benign
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:10415154
- GRCh38:
- Chr6:10414921
| TFAP2A-AS1, TFAP2A | | not provided, Branchiooculofacial syndrome | Likely benign
(Oct 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:10404991
- GRCh38:
- Chr6:10404758
| LOC121740638, TFAP2A, TFAP2A-AS2 | | Branchiooculofacial syndrome, not provided | Likely benign
(Sep 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:10404851
- GRCh38:
- Chr6:10404618
| LOC121740638, TFAP2A, TFAP2A-AS2 | | Branchiooculofacial syndrome, not provided | Likely benign
(Aug 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:10410146
- GRCh38:
- Chr6:10409913
| TFAP2A | I158M, I150M, I152M | Branchiooculofacial syndrome, not provided | Uncertain significance
(Jul 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:10410517
- GRCh38:
- Chr6:10410284
| TFAP2A | T35A, T27A, T29A | not provided, Branchiooculofacial syndrome | Uncertain significance
(Sep 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:10402754
- GRCh38:
- Chr6:10402521
| TFAP2A | N279S, N281S, N287S | Branchiooculofacial syndrome, not provided | Uncertain significance
(Oct 19, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:72183992
- GRCh38:
- Chr8:71271757
| EYA1 | | Branchiooculofacial syndrome | Likely pathogenic
(Jan 17, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr6:10404930
- GRCh38:
- Chr6:10404697
| LOC121740638, TFAP2A, TFAP2A-AS2 | A186V, A188V, A194V | not provided, Branchiooculofacial syndrome | Uncertain significance
(Dec 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:10398982
- GRCh38:
- Chr6:10398749
| TFAP2A | | not provided, Branchiooculofacial syndrome | Benign
(Sep 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:10402652
- GRCh38:
- Chr6:10402419
| TFAP2A | | not provided | Likely benign
(Dec 22, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:10402722-10402723
- GRCh38:
- Chr6:10402489-10402490
| TFAP2A | | Branchiooculofacial syndrome | Likely pathogenic
(Jan 18, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:10410526
- GRCh38:
- Chr6:10410293
| TFAP2A | Q24*, Q26*, Q32* | Branchiooculofacial syndrome | Likely pathogenic
(Feb 7, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:10404781
- GRCh38:
- Chr6:10404548
| LOC121740638, TFAP2A, TFAP2A-AS2 | E236K, E238K, E244K | Branchiooculofacial syndrome | Likely pathogenic
(Jan 1, 2019) | criteria provided, single submitter |
| | TFAP2A | | Branchiooculofacial syndrome | Likely pathogenic
(Jan 14, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr6:10402794
- GRCh38:
- Chr6:10402561
| TFAP2A | I266V, I268V, I274V | Branchiooculofacial syndrome | Uncertain significance
(Sep 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:10398931
- GRCh38:
- Chr6:10398698
| TFAP2A | C341R, C339R, C347R | Branchiooculofacial syndrome | Likely pathogenic
(Jan 1, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr6:10404753
- GRCh38:
- Chr6:10404520
| LOC121740638, TFAP2A, TFAP2A-AS2 | G253E, G247E, G245E | Branchiooculofacial syndrome | Likely pathogenic
(Oct 23, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:10404759
- GRCh38:
- Chr6:10404526
| LOC121740638, TFAP2A, TFAP2A-AS2 | L243P, L245P, L251P | Branchiooculofacial syndrome | Pathogenic
(Jan 17, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr6:10407071
- GRCh38:
- Chr6:10406838
| TFAP2A-AS2, TFAP2A | E159Q, E165Q, E157Q | Branchiooculofacial syndrome | Likely benign
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:10410194
- GRCh38:
- Chr6:10409961
| TFAP2A | | not provided, Branchiooculofacial syndrome | Benign/Likely benign
(Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:10404797
- GRCh38:
- Chr6:10404564
| LOC121740638, TFAP2A, TFAP2A-AS2 | | Branchiooculofacial syndrome, not provided | Likely benign
(Apr 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:10398755
- GRCh38:
- Chr6:10398522
| TFAP2A | | not provided, Branchiooculofacial syndrome | Likely benign
(Jun 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:10404764
- GRCh38:
- Chr6:10404531
| LOC121740638, TFAP2A, TFAP2A-AS2 | | Branchiooculofacial syndrome, not provided | Likely benign
(Dec 22, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:10404932
- GRCh38:
- Chr6:10404699
| LOC121740638, TFAP2A, TFAP2A-AS2 | | not provided, Branchiooculofacial syndrome | Benign/Likely benign
(Aug 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:10400788
- GRCh38:
- Chr6:10400555
| TFAP2A | | Branchiooculofacial syndrome, not provided | Benign/Likely benign
(Sep 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:10402788
- GRCh38:
- Chr6:10402555
| TFAP2A | | Branchiooculofacial syndrome, not provided | Benign/Likely benign
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:10404799
- GRCh38:
- Chr6:10404566
| LOC121740638, TFAP2A, TFAP2A-AS2 | R230W, R232W, R238W | Branchiooculofacial syndrome | Likely pathogenic
(Apr 3, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr6:10398650
- GRCh38:
- Chr6:10398417
| TFAP2A | | Branchiooculofacial syndrome | Likely pathogenic
(Nov 1, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr6:10400817
- GRCh38:
- Chr6:10400584
| TFAP2A | A291P, A293P, A299P | Branchiooculofacial syndrome | Likely pathogenic
(Nov 1, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr6:10402841
- GRCh38:
- Chr6:10402608
| TFAP2A | A250V, A252V, A258V | Inborn genetic diseases, not provided, Branchiooculofacial syndrome
| Pathogenic/Likely pathogenic
(May 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:10404745
- GRCh38:
- Chr6:10404512
| LOC121740638, TFAP2A, TFAP2A-AS2 | R248W, R250W, R256W | Branchiooculofacial syndrome | Pathogenic
(Sep 5, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:10404745
- GRCh38:
- Chr6:10404512
| LOC121740638, TFAP2A, TFAP2A-AS2 | R248G, R250G, R256G | Branchiooculofacial syndrome | Pathogenic
(Nov 1, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr6:10404756
- GRCh38:
- Chr6:10404523
| LOC121740638, TFAP2A, TFAP2A-AS2 | G244D, G246D, G252D | Branchiooculofacial syndrome | Likely pathogenic
(Nov 1, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr6:10404792
- GRCh38:
- Chr6:10404559
| LOC121740638, TFAP2A, TFAP2A-AS2 | L232P, L234P, L240P | Branchiooculofacial syndrome | Likely pathogenic
(Nov 1, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr6:10404795
- GRCh38:
- Chr6:10404562
| LOC121740638, TFAP2A, TFAP2A-AS2 | R231P, R233P, R239P | Branchiooculofacial syndrome | Pathogenic
(Nov 1, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr6:10404808
- GRCh38:
- Chr6:10404575
| LOC121740638, TFAP2A, TFAP2A-AS2 | E227K, E229K, E235K | Branchiooculofacial syndrome | Likely pathogenic
(Nov 1, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr6:10410206-10410207
- GRCh38:
- Chr6:10409973-10409974
| TFAP2A | P131fs, P133fs, P139fs | Branchiooculofacial syndrome | Likely pathogenic
(Nov 1, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr6:10398926-10398927
- GRCh38:
- Chr6:10398693-10398694
| TFAP2A | K340fs, K342fs, K348fs | Branchiooculofacial syndrome, Hypertelorism, Lens subluxation,
Epicanthus, Amblyopia, Abnormality of visual evoked potentials,
Iris coloboma, Nystagmus, High palate,
Low-set ears, EEG abnormalityEsotropia,
Short neck, Microphthalmia, ...see more | Pathogenic
(May 15, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:10404744
- GRCh38:
- Chr6:10404511
| LOC121740638, TFAP2A, TFAP2A-AS2 | R248Q, R250Q, R256Q | Inborn genetic diseases, Branchiooculofacial syndrome | Likely pathogenic
(Sep 21, 2017) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:10410363
- GRCh38:
- Chr6:10410130
| TFAP2A | P78L, P80L, P86L | not provided, Branchiooculofacial syndrome | Uncertain significance
(Dec 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:10404864
- GRCh38:
- Chr6:10404631
| TFAP2A, LOC121740638, TFAP2A-AS2 | V210D, V208D, V216D | Branchiooculofacial syndrome | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr6:10404856
- GRCh38:
- Chr6:10404623
| TFAP2A-AS2, LOC121740638, TFAP2A | R213S, R211S, R219S | Branchiooculofacial syndrome | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr6:10404795
- GRCh38:
- Chr6:10404562
| TFAP2A, LOC121740638, TFAP2A-AS2 | R231Q, R233Q, R239Q | Branchiooculofacial syndrome, Inborn genetic diseases, not provided
| Pathogenic/Likely pathogenic
(Dec 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:10400820
- GRCh38:
- Chr6:10400587
| TFAP2A | E290K, E292K, E298K | Branchiooculofacial syndrome | Pathogenic
(Apr 1, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr6:10402766-10402782
- GRCh38:
- Chr6:10402533-10402549
| TFAP2A | | Branchiooculofacial syndrome | Pathogenic
(Mar 1, 2009) | no assertion criteria provided |
| - GRCh37:
- Chr6:10404797-10404808
- GRCh38:
- Chr6:10404564-10404575
| LOC121740638, TFAP2A, TFAP2A-AS2 | | Branchiooculofacial syndrome | Pathogenic
(Dec 1, 2009) | no assertion criteria provided |
| - GRCh37:
- Chr6:10402823
- GRCh38:
- Chr6:10402590
| TFAP2A | G258E, G256E, G264E | Branchiooculofacial syndrome | Pathogenic
(Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:10404742
- GRCh38:
- Chr6:10404509
| TFAP2A-AS2, LOC121740638, TFAP2A | R251G, R249G, R257G | not provided, Branchiooculofacial syndrome | Pathogenic/Likely pathogenic
(Mar 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:72128968
- GRCh38:
- Chr8:71216733
| EYA1 | R440Q, R318Q, R433Q, R434Q, R469Q | Melnick-Fraser syndrome, Rare genetic deafness, Branchiootic syndrome 1
| Pathogenic/Likely pathogenic
(Aug 2, 2022) | criteria provided, multiple submitters, no conflicts |