| - GRCh37:
- Chr8:72182044
- GRCh38:
- Chr8:71269809
| EYA1 | W205*, W294*, W321*, W327*, W350*, W351*, W356* | Branchiootorenal syndrome 1 | Pathogenic
(Mar 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:72123478
- GRCh38:
- Chr8:71211243
| EYA1 | C415*, C504*, C530*, C531*, C537*, C566* | Branchiootorenal syndrome 1 | Pathogenic
(Feb 10, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr8:72229823
- GRCh38:
- Chr8:71317588
| EYA1 | Q141*, Q168*, Q174*, Q197*, Q198*, Q203*, Q52* | Branchiootorenal syndrome 1 | Likely pathogenic
(Jan 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:72182046
- GRCh38:
- Chr8:71269811
| EYA1 | W205R, W321R, W327R, W350R, W351R, W356R | Branchiootorenal syndrome 1 | Likely pathogenic
(Jun 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr8:72156827
- GRCh38:
- Chr8:71244592
| EYA1 | | Melnick-Fraser syndrome, Branchiootic syndrome 1, Branchiootorenal syndrome 1,
Otofaciocervical syndrome 1 | Likely benign
(Sep 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:72246369
- GRCh38:
- Chr8:71334134
| EYA1 | | Melnick-Fraser syndrome, Branchiootorenal syndrome 1, Otofaciocervical syndrome 1,
Branchiootic syndrome 1 | Likely benign
(Aug 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:72127689
- GRCh38:
- Chr8:71215454
| EYA1 | | Melnick-Fraser syndrome, Branchiootorenal syndrome 1, Branchiootic syndrome 1,
Otofaciocervical syndrome 1 | Likely benign
(Apr 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:72128962
- GRCh38:
- Chr8:71216727
| EYA1 | K320R, K435R, K436R, K442R, K471R | Branchiootorenal syndrome 1 | Uncertain significance
(Jan 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:72127731-72127732
- GRCh38:
- Chr8:71215496-71215497
| EYA1 | V374fs, V496fs, V525fs, V490fs, V489fs | Branchiootorenal syndrome 1, Branchiootic syndrome 1, Otofaciocervical syndrome 1,
Melnick-Fraser syndrome | Pathogenic
(Sep 29, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:72184049
- GRCh38:
- Chr8:71271814
| EYA1 | R327C, R182C, R298C, R304C, R328C, R333C | Melnick-Fraser syndrome, Otofaciocervical syndrome 1, Branchiootic syndrome 1,
Branchiootorenal syndrome 1 | Uncertain significance
(Jun 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:72234098
- GRCh38:
- Chr8:71321863
| EYA1 | I96V, I126V, I97V, I125V | Melnick-Fraser syndrome, Branchiootorenal syndrome 1, Branchiootic syndrome 1,
Otofaciocervical syndrome 1 | Uncertain significance
(May 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:72234117
- GRCh38:
- Chr8:71321882
| EYA1 | | Melnick-Fraser syndrome, Otofaciocervical syndrome 1, Branchiootic syndrome 1,
Branchiootorenal syndrome 1 | Uncertain significance
(Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:72127849
- GRCh38:
- Chr8:71215614
| EYA1 | R370Q, R485Q, R486Q, R492Q, R521Q | not provided, Melnick-Fraser syndrome | Conflicting interpretations of pathogenicity
(Mar 28, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr14:61113241
- GRCh38:
- Chr14:60646523
| SIX1 | | not provided, Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23,
Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23, Branchiootorenal syndrome 1
| Benign/Likely benign
(Apr 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:72156932
- GRCh38:
- Chr8:71244697
| EYA1 | | not provided | Likely pathogenic
(Dec 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:72127604
- GRCh38:
- Chr8:71215369
| EYA1 | | Melnick-Fraser syndrome, Branchiootic syndrome 1, Otofaciocervical syndrome 1,
Branchiootorenal syndrome 1, not provided | Benign/Likely benign
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:72111678
- GRCh38:
- Chr8:71199443
| EYA1 | | not provided, Branchiootic syndrome 1, Otofaciocervical syndrome 1,
Branchiootorenal syndrome 1 | Benign
(Aug 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:72127764
- GRCh38:
- Chr8:71215529
| EYA1 | | not provided, Branchiootic syndrome 1, Otofaciocervical syndrome 1,
Branchiootorenal syndrome 1 | Benign
(Aug 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:72211834
- GRCh38:
- Chr8:71299599
| EYA1 | | Branchiootorenal syndrome 1, Branchiootic syndrome 1, Otofaciocervical syndrome 1,
not provided | Benign
(Aug 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:72211856
- GRCh38:
- Chr8:71299621
| EYA1 | | Branchiootorenal syndrome 1, Branchiootic syndrome 1, Otofaciocervical syndrome 1,
not provided | Benign/Likely benign
(Nov 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:72246422
- GRCh38:
- Chr8:71334187
| EYA1 | | Melnick-Fraser syndrome, not provided, Otofaciocervical syndrome 1,
Branchiootic syndrome 1, Branchiootorenal syndrome 1 | Likely benign
(Sep 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:72129028
- GRCh38:
- Chr8:71216793
| EYA1 | L298fs, L413fs, L414fs, L420fs, L449fs | Branchiootorenal syndrome 1 | Pathogenic
(May 28, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:72184030
- GRCh38:
- Chr8:71271795
| EYA1 | N188fs, N304fs, N310fs, N333fs, N334fs, N339fs | Branchiootorenal syndrome 1 | Pathogenic
(Feb 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr8:72234047
- GRCh38:
- Chr8:71321812
| EYA1 | F113L, F114L, F142L, F143L | Branchiootorenal syndrome 1 | Uncertain significance
(Aug 12, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr8:72184129
- GRCh38:
- Chr8:71271894
| EYA1 | Y306C, Y277C, Y155C, Y271C, Y300C, Y301C | Branchiootorenal syndrome 1, Otofaciocervical syndrome 1, Branchiootic syndrome 1,
not specified | Uncertain significance
(Feb 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:72211416
- GRCh38:
- Chr8:71299181
| EYA1 | N260S, N109S, N254S, N225S, N231S, N255S | Branchiootorenal syndrome 1, Otofaciocervical syndrome 1, Branchiootic syndrome 1,
not specified | Uncertain significance
(Jul 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:72128974
- GRCh38:
- Chr8:71216739
| EYA1 | Y432F, Y467F, Y316F, Y431F, Y438F | Melnick-Fraser syndrome, Branchiootic syndrome 1, Otofaciocervical syndrome 1,
Branchiootorenal syndrome 1, Otofaciocervical syndrome 1, Branchiootic syndrome 1
| Uncertain significance
(Apr 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:72184140
- GRCh38:
- Chr8:71271905
| EYA1 | | Branchiootic syndrome 1, Otofaciocervical syndrome 1, Branchiootorenal syndrome 1,
Otofaciocervical syndrome 1, Branchiootic syndrome 1 | Uncertain significance
(Mar 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:72184079
- GRCh38:
- Chr8:71271844
| EYA1 | R172*, R318*, R317*, R323*, R288*, R294* | Melnick-Fraser syndrome, not provided, Inborn genetic diseases,
Branchiootorenal syndrome 1 | Pathogenic
(Aug 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:72181955-72184152
| EYA1 | | Melnick-Fraser syndrome, Branchiootorenal syndrome 1 | Pathogenic
(Jul 2, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr8:72156818-72156947
| EYA1 | | Melnick-Fraser syndrome, Branchiootorenal syndrome 1 | Pathogenic
(Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr8:72181955-72182078
| EYA1 | | Melnick-Fraser syndrome, Branchiootorenal syndrome 1 | Pathogenic
(Aug 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr8:72211358-72211359
- GRCh38:
- Chr8:71299123-71299124
| EYA1 | S245fs, S274fs, S280fs, S129fs, S275fs, S251fs | Branchiootorenal syndrome 1 | Likely pathogenic
(Sep 25, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr8:72182037
- GRCh38:
- Chr8:71269802
| EYA1 | D208Y, D324Y, D330Y, D354Y, D359Y, D353Y | Branchiootorenal syndrome 1 | Uncertain significance
(Aug 28, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr8:72127864
- GRCh38:
- Chr8:71215629
| EYA1 | S365*, S480*, S481*, S487*, S516* | Melnick-Fraser syndrome | Pathogenic
(May 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:72267092
- GRCh38:
- Chr8:71354857
| EYA1 | S17G, S46G | Melnick-Fraser syndrome, Otofaciocervical syndrome 1, Branchiootic syndrome 1,
Branchiootorenal syndrome 1, not provided | Conflicting interpretations of pathogenicity
(Aug 16, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:72211430
- GRCh38:
- Chr8:71299195
| EYA1 | Y249*, Y250*, Y104*, Y226*, Y220*, Y255* | Branchiootorenal syndrome 1 | Pathogenic
(May 2, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:72127869
- GRCh38:
- Chr8:71215634
| EYA1 | | Branchiootorenal syndrome 1 | Likely benign
(Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr8:72233988
- GRCh38:
- Chr8:71321753
| EYA1 | | Branchiootic syndrome 1, Branchiootorenal syndrome 1, Otofaciocervical syndrome 1,
Melnick-Fraser syndrome | Likely benign
(Oct 23, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:61113040
- GRCh38:
- Chr14:60646322
| SIX1 | | Branchiootorenal syndrome 1, Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23,
not provided | Likely benign
(Nov 2, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:61115443
- GRCh38:
- Chr14:60648725
| SIX1 | | Branchiootic syndrome 3, Branchiootorenal syndrome 1, Autosomal dominant nonsyndromic hearing loss 23,
not provided | Likely benign
(Jan 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:72234066
- GRCh38:
- Chr8:71321831
| EYA1 | | Otofaciocervical syndrome 1, Branchiootic syndrome 1, Branchiootorenal syndrome 1,
Melnick-Fraser syndrome, not provided | Benign/Likely benign
(Jun 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:72267115
- GRCh38:
- Chr8:71354880
| EYA1 | P9L, P38L | Branchiootorenal syndrome 1, Otofaciocervical syndrome 1, Branchiootic syndrome 1,
not provided, Melnick-Fraser syndrome | Uncertain significance
(May 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:72111555-72268741
- GRCh38:
- Chr8:71199320-71356506
| EYA1, LOC130000578, LOC130000579, LOC130000580, LOC130000581, LOC130000582 | | Melnick-Fraser syndrome, Branchiootorenal syndrome 1 | Pathogenic
(Sep 16, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr8:72211426
- GRCh38:
- Chr8:71299191
| EYA1 | Q228*, Q252*, Q257*, Q251*, Q106*, Q222* | Melnick-Fraser syndrome, Branchiootorenal syndrome 1 | Pathogenic
(May 21, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:72127621
- GRCh38:
- Chr8:71215386
| EYA1 | | Branchiootic syndrome 1, Branchiootorenal syndrome 1, Otofaciocervical syndrome 1
| Likely pathogenic
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:72127696
- GRCh38:
- Chr8:71215461
| EYA1 | A508V, A501V, A537V, A386V, A502V | Branchiootorenal syndrome 1 | Uncertain significance
(Sep 1, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr8:72156818-72234523
- GRCh38:
- Chr8:71244583-71322288
| LOC130000578, LOC130000579, LOC130000581, LOC130000580, EYA1 | | Branchiootorenal syndrome 1, Melnick-Fraser syndrome | Pathogenic
(Sep 29, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr8:72181981
- GRCh38:
- Chr8:71269746
| EYA1 | Y348*, Y226*, Y377*, Y371*, Y342*, Y372* | Melnick-Fraser syndrome | Pathogenic
(Aug 3, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr14:61115434
- GRCh38:
- Chr14:60648716
| SIX1 | | Branchiootorenal syndrome 1, Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23,
Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23, not provided
| Likely benign
(Jul 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:72234477
- GRCh38:
- Chr8:71322242
| EYA1 | R77*, R106* | Melnick-Fraser syndrome, not provided, Branchiootorenal syndrome 1,
Branchiootic syndrome 1, Otofaciocervical syndrome 1 | Pathogenic/Likely pathogenic
(Apr 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:72234471
- GRCh38:
- Chr8:71322236
| EYA1 | T79A, T108A | not provided, Branchiootic syndrome 1, Branchiootorenal syndrome 1,
Otofaciocervical syndrome 1 | Uncertain significance
(Nov 3, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:72229852
- GRCh38:
- Chr8:71317617
| EYA1 | L164P, L158P, L187P, L188P, L193P, L42P | not specified, not provided, Melnick-Fraser syndrome,
Otofaciocervical syndrome 1, Branchiootorenal syndrome 1, Branchiootic syndrome 1
| Uncertain significance
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:72184070
- GRCh38:
- Chr8:71271835
| EYA1 | R297*, R291*, R175*, R320*, R321*, R326* | Melnick-Fraser syndrome, Branchiootic syndrome 1, EYA1-related condition,
not provided, Branchiootic syndrome 1, Branchiootorenal syndrome 1,
Otofaciocervical syndrome 1 | Pathogenic
(Feb 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:72123474
- GRCh38:
- Chr8:71211239
| EYA1 | E539*, E533*, E568*, E417*, E532* | Branchiootic syndrome 1, Otofaciocervical syndrome 1, Branchiootorenal syndrome 1
| Likely pathogenic
(Jun 23, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr8:72184036
- GRCh38:
- Chr8:71271801
| EYA1 | R308Q, R302Q, R337Q, R332Q, R186Q, R331Q | Melnick-Fraser syndrome, Branchiootic syndrome 1, Otofaciocervical syndrome 1,
Branchiootorenal syndrome 1, Otofaciocervical syndrome 1, Branchiootic syndrome 1
| Benign/Likely benign
(Oct 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:72183989
- GRCh38:
- Chr8:71271754
| EYA1 | | not specified, Otofaciocervical syndrome 1, Branchiootic syndrome 1,
not provided, Melnick-Fraser syndrome, Branchiootic syndrome 1,
Branchiootorenal syndrome 1, Otofaciocervical syndrome 1 | Benign/Likely benign
(Oct 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:72129098
- GRCh38:
- Chr8:71216863
| EYA1 | | not specified, Melnick-Fraser syndrome, Otofaciocervical syndrome 1,
Branchiootic syndrome 1, Otofaciocervical syndrome 1, Branchiootorenal syndrome 1,
not provided, Branchiootic syndrome 1 | Benign/Likely benign
(Jun 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:72111458
- GRCh38:
- Chr8:71199223
| EYA1 | | Otofaciocervical syndrome 1, Branchiootic syndrome 1, Otofaciocervical syndrome 1,
Branchiootorenal syndrome 1, Branchiootic syndrome 1 | Uncertain significance
(Dec 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:72268716
- GRCh38:
- Chr8:71356481
| EYA1 | A22S | Branchiootic syndrome 1, Otofaciocervical syndrome 1, Branchiootorenal syndrome 1,
not specified | Uncertain significance
(Apr 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:72127898
- GRCh38:
- Chr8:71215663
| EYA1 | D476N, D354N, D469N, D505N, D470N | not specified, Branchiootic syndrome 1, Otofaciocervical syndrome 1,
Branchiootorenal syndrome 1 | Uncertain significance
(Jan 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:72128969
- GRCh38:
- Chr8:71216734
| EYA1 | R440W, R318W, R433W, R434W, R469W | Branchiootic syndrome 1, Otofaciocervical syndrome 1, Branchiootorenal syndrome 1,
not specified | Uncertain significance
(Sep 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:72127947
- GRCh38:
- Chr8:71215712
| EYA1 | | not provided, Branchiootic syndrome 1, Otofaciocervical syndrome 1,
Branchiootorenal syndrome 1, not specified | Likely benign
(Jan 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:61115746
- GRCh38:
- Chr14:60649028
| SIX1 | | Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3, Branchiootorenal syndrome 1,
Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3, not specified,
Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23, not provided
| Benign/Likely benign
(Sep 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:72123506
- GRCh38:
- Chr8:71211271
| EYA1 | | Branchiootic syndrome 1, Branchiootorenal syndrome 1, Otofaciocervical syndrome 1,
Melnick-Fraser syndrome, not specified, Branchiootic syndrome 1,
Otofaciocervical syndrome 1 | Benign/Likely benign
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:72233984
- GRCh38:
- Chr8:71321749
| EYA1 | G135S, G164S, G18S, G134S, G163S | Melnick-Fraser syndrome, not specified, not provided,
Otofaciocervical syndrome 1, Branchiootorenal syndrome 1, Branchiootic syndrome 1
| Conflicting interpretations of pathogenicity
(Jul 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:72211437
- GRCh38:
- Chr8:71299202
| EYA1 | G224V, G253V, G247V, G218V, G248V, G102V | Branchiootorenal syndrome 1, not provided | Conflicting interpretations of pathogenicity
(Dec 31, 2019) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:72229795
- GRCh38:
- Chr8:71317560
| EYA1 | Q183R, Q177R, Q212R, Q206R, Q207R, Q61R | not provided, Branchiootic syndrome 1, Branchiootorenal syndrome 1,
Otofaciocervical syndrome 1 | Uncertain significance
(Dec 8, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:72246370
- GRCh38:
- Chr8:71334135
| EYA1 | T55M, T84M | Melnick-Fraser syndrome, not specified, not provided,
Branchiootic syndrome 1, Branchiootorenal syndrome 1 | Conflicting interpretations of pathogenicity
(Oct 5, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:72267076
- GRCh38:
- Chr8:71354841
| EYA1 | G22D, G51D | Branchiootorenal syndrome 1, Otofaciocervical syndrome 1, Branchiootic syndrome 1,
not specified | Uncertain significance
(Jan 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:72267034
- GRCh38:
- Chr8:71354799
| EYA1 | T36I, T65I | Branchiootic syndrome 1, Branchiootorenal syndrome 1, Otofaciocervical syndrome 1,
not specified, Melnick-Fraser syndrome, Inborn genetic diseases,
not provided | Conflicting interpretations of pathogenicity
(Sep 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:72184119
- GRCh38:
- Chr8:71271884
| EYA1 | | Melnick-Fraser syndrome, Branchiootorenal syndrome 1, Branchiootic syndrome 1,
Otofaciocervical syndrome 1, not specified, not provided,
Branchiootic syndrome 1, Otofaciocervical syndrome 1 | Benign/Likely benign
(Jan 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:72129273
- GRCh38:
- Chr8:71217038
| EYA1 | | Melnick-Fraser syndrome, Branchiootic syndrome 1, Branchiootorenal syndrome 1,
Otofaciocervical syndrome 1, not specified, not provided,
Otofaciocervical syndrome 1, Branchiootic syndrome 1 | Benign/Likely benign
(Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:72129213
- GRCh38:
- Chr8:71216978
| EYA1 | G396R, G274R, G389R, G390R, G425R | Branchiootorenal syndrome 1, Otofaciocervical syndrome 1, Branchiootic syndrome 1,
not specified | Uncertain significance
(May 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:72127848
- GRCh38:
- Chr8:71215613
| EYA1 | | Rare genetic deafness, Branchiootorenal syndrome 1, Branchiootic syndrome 1,
Otofaciocervical syndrome 1 | Pathogenic
(Jul 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:72211295
- GRCh38:
- Chr8:71299060
| EYA1 | | Melnick-Fraser syndrome, not specified, not provided,
Otofaciocervical syndrome 1, Branchiootorenal syndrome 1, Branchiootic syndrome 1
| Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:72111599
- GRCh38:
- Chr8:71199364
| EYA1 | | Melnick-Fraser syndrome, not specified, not provided,
Otofaciocervical syndrome 1, Branchiootorenal syndrome 1, Branchiootic syndrome 1
| Benign
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:72111606
- GRCh38:
- Chr8:71199371
| EYA1 | L583P, L577P, L612P, L461P, L576P | Rare genetic deafness, Otofaciocervical syndrome 1, Branchiootic syndrome 1,
Branchiootorenal syndrome 1, not provided | Likely pathogenic
(Apr 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:72129214
- GRCh38:
- Chr8:71216979
| EYA1 | | not specified, Melnick-Fraser syndrome, Branchiootic syndrome 1,
Otofaciocervical syndrome 1, Otofaciocervical syndrome 1, Branchiootic syndrome 1,
Branchiootorenal syndrome 1, not provided | Benign/Likely benign
(Sep 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:61115522
- GRCh38:
- Chr14:60648804
| SIX1 | Y129C | SIX1-related condition, Branchiootic syndrome 3, Branchiootorenal syndrome 1,
Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23,
not provided, Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23
| Pathogenic/Likely pathogenic
(Jun 29, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:72183988
- GRCh38:
- Chr8:71271753
| EYA1 | | Melnick-Fraser syndrome, not provided, Branchiootorenal syndrome 1
| Pathogenic
(Aug 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:72156897
- GRCh38:
- Chr8:71244662
| EYA1 | R361*, R355*, R239*, R390* | Inborn genetic diseases, Melnick-Fraser syndrome, not provided,
Branchiootorenal syndrome 1 | Pathogenic
(Sep 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:72127705
- GRCh38:
- Chr8:71215470
| EYA1 | L505R, L499R, L383R, L498R, L534R | Branchiootorenal syndrome 1 | Pathogenic
(Dec 1, 1997) | no assertion criteria provided |
| - GRCh37:
- Chr8:72127865
- GRCh38:
- Chr8:71215630
| EYA1 | S487P, S481P, S365P, S480P, S516P | Branchiootorenal syndrome 1 | Pathogenic
(Dec 1, 1997) | no assertion criteria provided |
| - GRCh37:
- Chr8:72229853-72229854
- GRCh38:
- Chr8:71317618-71317619
| EYA1 | L158fs, L164fs, L187fs, L188fs, L193fs, L42fs | Branchiootorenal syndrome 1 | Pathogenic
(Aug 1, 2000) | no assertion criteria provided |
| - GRCh37:
- Chr8:72129011
- GRCh38:
- Chr8:71216776
| EYA1 | G426S, G304S, G455S, G419S, G420S | not provided, not specified, Branchiootic syndrome 1,
Otofaciocervical syndrome 1 | Conflicting interpretations of pathogenicity
(Dec 2, 2022) | criteria provided, conflicting interpretations |
| - 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 |
| - GRCh37:
- Chr8:72123391-72123394
- GRCh38:
- Chr8:71211156-71211159
| EYA1 | K558fs, K565fs, K594fs, K559fs, K443fs | Branchiootorenal syndrome 1 | Pathogenic
(Jan 1, 1998) | no assertion criteria provided |
| | EYA1 | | Branchiootorenal syndrome 1 | Pathogenic
(Dec 1, 1997) | no assertion criteria provided |
| - GRCh37:
- Chr8:72128937
- GRCh38:
- Chr8:71216702
| EYA1 | N329fs, N444fs, N445fs, N451fs, N480fs | Branchiootorenal syndrome 1 | Pathogenic
(Feb 1, 1997) | no assertion criteria provided |
| - GRCh37:
- Chr8:72184037
- GRCh38:
- Chr8:71271802
| EYA1 | R308*, R186*, R302*, R337*, R331*, R332* | Melnick-Fraser syndrome, Rare genetic deafness, not provided,
EYA1-related condition | Pathogenic
(Feb 2, 2023) | criteria provided, multiple submitters, no conflicts |