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Links from MedGen

Items: 90

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr8:72182044
GRCh38:
Chr8:71269809
EYA1W205*, W294*, W321*, W327*, W350*, W351*, W356*Branchiootorenal syndrome 1Pathogenic
(Mar 4, 2022)		criteria provided, single submitter
2.
GRCh37:
Chr8:72123478
GRCh38:
Chr8:71211243
EYA1C415*, C504*, C530*, C531*, C537*, C566*Branchiootorenal syndrome 1Pathogenic
(Feb 10, 2023)		criteria provided, single submitter
3.
GRCh37:
Chr8:72229823
GRCh38:
Chr8:71317588
EYA1Q141*, Q168*, Q174*, Q197*, Q198*, Q203*, Q52*Branchiootorenal syndrome 1Likely pathogenic
(Jan 27, 2022)		criteria provided, single submitter
4.
GRCh37:
Chr8:72182046
GRCh38:
Chr8:71269811
EYA1W205R, W321R, W327R, W350R, W351R, W356RBranchiootorenal syndrome 1Likely pathogenic
(Jun 10, 2021)		criteria provided, single submitter
5.
GRCh37:
Chr8:72156827
GRCh38:
Chr8:71244592
EYA1Melnick-Fraser syndrome, Branchiootic syndrome 1, Branchiootorenal syndrome 1,
Otofaciocervical syndrome 1		Likely benign
(Sep 26, 2022)		criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr8:72246369
GRCh38:
Chr8:71334134
EYA1Melnick-Fraser syndrome, Branchiootorenal syndrome 1, Otofaciocervical syndrome 1,
Branchiootic syndrome 1		Likely benign
(Aug 12, 2021)		criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr8:72127689
GRCh38:
Chr8:71215454
EYA1Melnick-Fraser syndrome, Branchiootorenal syndrome 1, Branchiootic syndrome 1,
Otofaciocervical syndrome 1		Likely benign
(Apr 1, 2022)		criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr8:72128962
GRCh38:
Chr8:71216727
EYA1K320R, K435R, K436R, K442R, K471RBranchiootorenal syndrome 1Uncertain significance
(Jan 1, 2022)		criteria provided, single submitter
9.
GRCh37:
Chr8:72127731-72127732
GRCh38:
Chr8:71215496-71215497
EYA1V374fs, V496fs, V525fs, V490fs, V489fsBranchiootorenal syndrome 1, Branchiootic syndrome 1, Otofaciocervical syndrome 1,
Melnick-Fraser syndrome		Pathogenic
(Sep 29, 2021)		criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr8:72184049
GRCh38:
Chr8:71271814
EYA1R327C, R182C, R298C, R304C, R328C, R333CMelnick-Fraser syndrome, Otofaciocervical syndrome 1, Branchiootic syndrome 1,
Branchiootorenal syndrome 1		Uncertain significance
(Jun 27, 2022)		criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr8:72234098
GRCh38:
Chr8:71321863
EYA1I96V, I126V, I97V, I125VMelnick-Fraser syndrome, Branchiootorenal syndrome 1, Branchiootic syndrome 1,
Otofaciocervical syndrome 1		Uncertain significance
(May 15, 2022)		criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr8:72234117
GRCh38:
Chr8:71321882
EYA1Melnick-Fraser syndrome, Otofaciocervical syndrome 1, Branchiootic syndrome 1,
Branchiootorenal syndrome 1		Uncertain significance
(Oct 21, 2022)		criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr8:72127849
GRCh38:
Chr8:71215614
EYA1R370Q, R485Q, R486Q, R492Q, R521Qnot provided, Melnick-Fraser syndromeConflicting interpretations of pathogenicity
(Mar 28, 2023)		criteria provided, conflicting interpretations
14.
GRCh37:
Chr14:61113241
GRCh38:
Chr14:60646523
SIX1not 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
15.
GRCh37:
Chr8:72156932
GRCh38:
Chr8:71244697
EYA1not provided, Branchiootorenal syndrome 1Conflicting interpretations of pathogenicity
(Dec 17, 2022)		criteria provided, conflicting interpretations
16.
GRCh37:
Chr8:72127604
GRCh38:
Chr8:71215369
EYA1Melnick-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
17.
GRCh37:
Chr8:72111678
GRCh38:
Chr8:71199443
EYA1not provided, Branchiootic syndrome 1, Otofaciocervical syndrome 1,
Branchiootorenal syndrome 1		Benign
(Aug 10, 2021)		criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr8:72127764
GRCh38:
Chr8:71215529
EYA1not provided, Branchiootic syndrome 1, Otofaciocervical syndrome 1,
Branchiootorenal syndrome 1		Benign
(Aug 10, 2021)		criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr8:72211834
GRCh38:
Chr8:71299599
EYA1Branchiootorenal syndrome 1, Branchiootic syndrome 1, Otofaciocervical syndrome 1,
not provided		Benign
(Aug 10, 2021)		criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr8:72211856
GRCh38:
Chr8:71299621
EYA1Branchiootorenal syndrome 1, Branchiootic syndrome 1, Otofaciocervical syndrome 1,
not provided		Benign/Likely benign
(Nov 13, 2021)		criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr8:72246422
GRCh38:
Chr8:71334187
EYA1Melnick-Fraser syndrome, not provided, Otofaciocervical syndrome 1,
Branchiootic syndrome 1, Branchiootorenal syndrome 1		Likely benign
(Sep 2, 2022)		criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr8:72129028
GRCh38:
Chr8:71216793
EYA1L298fs, L413fs, L414fs, L420fs, L449fsBranchiootorenal syndrome 1Pathogenic
(May 28, 2018)		criteria provided, single submitter
23.
GRCh37:
Chr8:72184030
GRCh38:
Chr8:71271795
EYA1N188fs, N304fs, N310fs, N333fs, N334fs, N339fsBranchiootorenal syndrome 1Pathogenic
(Feb 1, 2020)		criteria provided, single submitter
24.
GRCh37:
Chr8:72234047
GRCh38:
Chr8:71321812
EYA1F113L, F114L, F142L, F143LBranchiootorenal syndrome 1Uncertain significance
(Aug 12, 2019)		criteria provided, single submitter
25.
GRCh37:
Chr8:72184129
GRCh38:
Chr8:71271894
EYA1Y306C, Y277C, Y155C, Y271C, Y300C, Y301CBranchiootorenal syndrome 1, Otofaciocervical syndrome 1, Branchiootic syndrome 1,
not specified		Uncertain significance
(Feb 24, 2022)		criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr8:72211416
GRCh38:
Chr8:71299181
EYA1N260S, N109S, N254S, N225S, N231S, N255SBranchiootorenal syndrome 1, Otofaciocervical syndrome 1, Branchiootic syndrome 1,
not specified		Uncertain significance
(Jul 27, 2021)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr8:72128974
GRCh38:
Chr8:71216739
EYA1Y432F, Y467F, Y316F, Y431F, Y438FMelnick-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
28.
GRCh37:
Chr8:72184140
GRCh38:
Chr8:71271905
EYA1Branchiootic 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
29.
GRCh37:
Chr8:72181955-72184152
EYA1Melnick-Fraser syndrome, Branchiootorenal syndrome 1Pathogenic
(Jul 2, 2019)		criteria provided, single submitter
30.
GRCh37:
Chr8:72156818-72156947
EYA1Melnick-Fraser syndrome, Branchiootorenal syndrome 1Pathogenic
(Aug 31, 2021)		criteria provided, single submitter
31.
GRCh37:
Chr8:72181955-72182078
EYA1Melnick-Fraser syndrome, Branchiootorenal syndrome 1Pathogenic
(Aug 12, 2021)		criteria provided, single submitter
32.
GRCh37:
Chr8:72211358-72211359
GRCh38:
Chr8:71299123-71299124
EYA1S245fs, S274fs, S280fs, S129fs, S275fs, S251fsBranchiootorenal syndrome 1Likely pathogenic
(Sep 25, 2019)		no assertion criteria provided
33.
GRCh37:
Chr8:72182037
GRCh38:
Chr8:71269802
EYA1D208Y, D324Y, D330Y, D354Y, D359Y, D353YBranchiootorenal syndrome 1Uncertain significance
(Aug 28, 2019)		no assertion criteria provided
34.
GRCh37:
Chr8:72127864
GRCh38:
Chr8:71215629
EYA1S365*, S480*, S481*, S487*, S516*Melnick-Fraser syndromePathogenic
(May 30, 2022)		criteria provided, single submitter
35.
GRCh37:
Chr8:72267092
GRCh38:
Chr8:71354857
EYA1S17G, S46GMelnick-Fraser syndrome, Branchiootic syndrome 1, Otofaciocervical syndrome 1,
Branchiootorenal syndrome 1, not provided		Conflicting interpretations of pathogenicity
(Aug 16, 2022)		criteria provided, conflicting interpretations
36.
GRCh37:
Chr8:72211430
GRCh38:
Chr8:71299195
EYA1Y249*, Y250*, Y104*, Y226*, Y220*, Y255*Branchiootorenal syndrome 1Pathogenic
(May 2, 2018)		criteria provided, single submitter
37.
GRCh37:
Chr8:72127869
GRCh38:
Chr8:71215634
EYA1Branchiootorenal syndrome 1Likely benign
(Dec 31, 2019)		criteria provided, single submitter
38.
GRCh37:
Chr8:72233988
GRCh38:
Chr8:71321753
EYA1Melnick-Fraser syndrome, Branchiootic syndrome 1, Branchiootorenal syndrome 1,
Otofaciocervical syndrome 1		Likely benign
(Oct 23, 2021)		criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr14:61113040
GRCh38:
Chr14:60646322
SIX1Branchiootorenal syndrome 1, Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23,
not provided		Likely benign
(Nov 2, 2021)		criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr14:61115443
GRCh38:
Chr14:60648725
SIX1Branchiootic syndrome 3, Branchiootorenal syndrome 1, Autosomal dominant nonsyndromic hearing loss 23,
not provided		Likely benign
(Jan 14, 2022)		criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr8:72234066
GRCh38:
Chr8:71321831
EYA1Otofaciocervical 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
42.
GRCh37:
Chr8:72267115
GRCh38:
Chr8:71354880
EYA1P9L, P38Lnot provided, Melnick-Fraser syndrome, Branchiootic syndrome 1,
Otofaciocervical syndrome 1, Branchiootorenal syndrome 1		Uncertain significance
(May 20, 2022)		criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr8:72111555-72268741
GRCh38:
Chr8:71199320-71356506
EYA1Melnick-Fraser syndrome, Branchiootorenal syndrome 1Pathogenic
(Sep 16, 2019)		criteria provided, single submitter
44.
GRCh37:
Chr8:72211426
GRCh38:
Chr8:71299191
EYA1Q228*, Q252*, Q257*, Q251*, Q106*, Q222*Melnick-Fraser syndrome, Branchiootorenal syndrome 1Pathogenic
(May 21, 2020)		criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr8:72127621
GRCh38:
Chr8:71215386
EYA1Branchiootic syndrome 1, Otofaciocervical syndrome 1, Branchiootorenal syndrome 1
Likely pathogenic
(May 4, 2022)		criteria provided, single submitter
46.
GRCh37:
Chr8:72127696
GRCh38:
Chr8:71215461
EYA1A508V, A501V, A537V, A386V, A502VBranchiootorenal syndrome 1Uncertain significance
(Sep 1, 2016)		no assertion criteria provided
47.
GRCh37:
Chr8:72156818-72234523
GRCh38:
Chr8:71244583-71322288
EYA1Branchiootorenal syndrome 1, Melnick-Fraser syndromePathogenic
(Sep 29, 2017)		criteria provided, single submitter
48.
GRCh37:
Chr8:72181981
GRCh38:
Chr8:71269746
EYA1Y348*, Y226*, Y377*, Y371*, Y342*, Y372*Melnick-Fraser syndromePathogenic
(Aug 3, 2017)		criteria provided, single submitter
49.
GRCh37:
Chr14:61115434
GRCh38:
Chr14:60648716
SIX1Branchiootorenal syndrome 1, Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3,
Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3, not provided
Likely benign
(Jul 2, 2022)		criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr8:72234477
GRCh38:
Chr8:71322242
EYA1R77*, R106*Melnick-Fraser syndrome, Branchiootorenal syndrome 1, Otofaciocervical syndrome 1,
Branchiootic syndrome 1, not provided		Pathogenic/Likely pathogenic
(Apr 21, 2022)		criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr8:72234471
GRCh38:
Chr8:71322236
EYA1T79A, T108Anot provided, Branchiootic syndrome 1, Branchiootorenal syndrome 1,
Otofaciocervical syndrome 1		Uncertain significance
(Nov 3, 2021)		criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr8:72229852
GRCh38:
Chr8:71317617
EYA1L164P, L158P, L187P, L188P, L193P, L42PBranchiootorenal syndrome 1, Branchiootic syndrome 1, Otofaciocervical syndrome 1,
Melnick-Fraser syndrome, not provided, not specified
Uncertain significance
(Oct 25, 2022)		criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr8:72184070
GRCh38:
Chr8:71271835
EYA1R297*, R291*, R175*, R320*, R321*, R326*Melnick-Fraser syndrome, Branchiootic syndrome 1, Branchiootorenal syndrome 1,
Otofaciocervical syndrome 1, not provided, Branchiootic syndrome 1
Pathogenic
(Feb 15, 2022)		criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr8:72123474
GRCh38:
Chr8:71211239
EYA1E539*, E533*, E568*, E417*, E532*Branchiootic syndrome 1, Otofaciocervical syndrome 1, Branchiootorenal syndrome 1
Likely pathogenic
(Jun 23, 2016)		no assertion criteria provided
55.
GRCh37:
Chr8:72184036
GRCh38:
Chr8:71271801
EYA1R308Q, R302Q, R337Q, R332Q, R186Q, R331QMelnick-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
56.
GRCh37:
Chr8:72183989
GRCh38:
Chr8:71271754
EYA1Melnick-Fraser syndrome, Branchiootic syndrome 1, not provided,
Otofaciocervical syndrome 1, Branchiootic syndrome 1, Branchiootorenal syndrome 1,
Otofaciocervical syndrome 1, not specified		Benign/Likely benign
(Oct 26, 2022)		criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr8:72129098
GRCh38:
Chr8:71216863
EYA1not 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
58.
GRCh37:
Chr8:72111458
GRCh38:
Chr8:71199223
EYA1Otofaciocervical 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
59.
GRCh37:
Chr8:72268716
GRCh38:
Chr8:71356481
EYA1A22SBranchiootic syndrome 1, Otofaciocervical syndrome 1, Branchiootorenal syndrome 1,
not specified		Uncertain significance
(Apr 26, 2022)		criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr8:72127898
GRCh38:
Chr8:71215663
EYA1D476N, D354N, D469N, D505N, D470Nnot specified, Branchiootic syndrome 1, Otofaciocervical syndrome 1,
Branchiootorenal syndrome 1		Uncertain significance
(Jan 4, 2022)		criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr8:72128969
GRCh38:
Chr8:71216734
EYA1R440W, R318W, R433W, R434W, R469WBranchiootic syndrome 1, Otofaciocervical syndrome 1, Branchiootorenal syndrome 1,
not specified		Uncertain significance
(Sep 14, 2021)		criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr8:72127947
GRCh38:
Chr8:71215712
EYA1not provided, Branchiootic syndrome 1, Otofaciocervical syndrome 1,
Branchiootorenal syndrome 1, not specified		Likely benign
(Jan 13, 2022)		criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr14:61115746
GRCh38:
Chr14:60649028
SIX1Autosomal 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
64.
GRCh37:
Chr8:72123506
GRCh38:
Chr8:71211271
EYA1Branchiootic 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
65.
GRCh37:
Chr8:72233984
GRCh38:
Chr8:71321749
EYA1G135S, G164S, G18S, G134S, G163SMelnick-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
66.
GRCh37:
Chr8:72211437
GRCh38:
Chr8:71299202
EYA1G224V, G253V, G247V, G218V, G248V, G102VBranchiootorenal syndrome 1, not providedConflicting interpretations of pathogenicity
(Dec 31, 2019)		criteria provided, conflicting interpretations
67.
GRCh37:
Chr8:72229795
GRCh38:
Chr8:71317560
EYA1Q183R, Q177R, Q212R, Q206R, Q207R, Q61Rnot provided, Branchiootic syndrome 1, Branchiootorenal syndrome 1,
Otofaciocervical syndrome 1		Uncertain significance
(Dec 8, 2021)		criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr8:72246370
GRCh38:
Chr8:71334135
EYA1T55M, T84MMelnick-Fraser syndrome, not specified, not provided,
Branchiootic syndrome 1, Branchiootorenal syndrome 1		Conflicting interpretations of pathogenicity
(Oct 5, 2022)		criteria provided, conflicting interpretations
69.
GRCh37:
Chr8:72267076
GRCh38:
Chr8:71354841
EYA1G22D, G51DBranchiootorenal syndrome 1, Otofaciocervical syndrome 1, Branchiootic syndrome 1,
not specified		Uncertain significance
(Jan 12, 2022)		criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr8:72267034
GRCh38:
Chr8:71354799
EYA1T36I, T65IBranchiootic 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
71.
GRCh37:
Chr8:72184119
GRCh38:
Chr8:71271884
EYA1Melnick-Fraser syndrome, Branchiootic syndrome 1, Branchiootorenal syndrome 1,
Otofaciocervical syndrome 1, not specified, not provided,
Otofaciocervical syndrome 1, Branchiootic syndrome 1		Benign/Likely benign
(Nov 22, 2021)		criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr8:72129273
GRCh38:
Chr8:71217038
EYA1Melnick-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
73.
GRCh37:
Chr8:72129213
GRCh38:
Chr8:71216978
EYA1G396R, G274R, G389R, G390R, G425RBranchiootorenal syndrome 1, Otofaciocervical syndrome 1, Branchiootic syndrome 1,
not specified		Uncertain significance
(May 23, 2022)		criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr8:72127848
GRCh38:
Chr8:71215613
EYA1Rare genetic deafness, Branchiootorenal syndrome 1, Otofaciocervical syndrome 1,
Branchiootic syndrome 1		Pathogenic
(Jul 13, 2021)		criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr8:72211295
GRCh38:
Chr8:71299060
EYA1Melnick-Fraser syndrome, not specified, Otofaciocervical syndrome 1,
not provided, Branchiootorenal syndrome 1, Branchiootic syndrome 1
Benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr8:72111599
GRCh38:
Chr8:71199364
EYA1not specified, Melnick-Fraser syndrome, Otofaciocervical syndrome 1,
Branchiootic syndrome 1, not provided, Branchiootorenal syndrome 1
Benign
(Oct 18, 2022)		criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr8:72111606
GRCh38:
Chr8:71199371
EYA1L583P, L577P, L612P, L461P, L576PRare genetic deafness, Otofaciocervical syndrome 1, Branchiootic syndrome 1,
Branchiootorenal syndrome 1, not provided		Likely pathogenic
(Apr 15, 2022)		criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr8:72129214
GRCh38:
Chr8:71216979
EYA1not 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
79.
GRCh37:
Chr14:61115522
GRCh38:
Chr14:60648804
SIX1Y129CBranchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23, Branchiootorenal syndrome 1,
Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23, not provided,
Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23		Pathogenic
(Oct 5, 2022)		criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr8:72183988
GRCh38:
Chr8:71271753
EYA1Melnick-Fraser syndrome, not provided, Branchiootorenal syndrome 1
Pathogenic
(Aug 12, 2021)		criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr8:72156897
GRCh38:
Chr8:71244662
EYA1R361*, R355*, R239*, R390*Inborn genetic diseases, Melnick-Fraser syndrome, not provided,
Branchiootorenal syndrome 1		Pathogenic
(Sep 21, 2022)		criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr8:72127705
GRCh38:
Chr8:71215470
EYA1L505R, L499R, L383R, L498R, L534RBranchiootorenal syndrome 1Pathogenic
(Dec 1, 1997)		no assertion criteria provided
83.
GRCh37:
Chr8:72127865
GRCh38:
Chr8:71215630
EYA1S487P, S481P, S365P, S480P, S516PBranchiootorenal syndrome 1Pathogenic
(Dec 1, 1997)		no assertion criteria provided
84.
GRCh37:
Chr8:72229853-72229854
GRCh38:
Chr8:71317618-71317619
EYA1L158fs, L164fs, L187fs, L188fs, L193fs, L42fsBranchiootorenal syndrome 1Pathogenic
(Aug 1, 2000)		no assertion criteria provided
85.
GRCh37:
Chr8:72129011
GRCh38:
Chr8:71216776
EYA1G426S, G304S, G455S, G419S, G420Snot provided, not specified, Branchiootic syndrome 1,
Otofaciocervical syndrome 1		Conflicting interpretations of pathogenicity
(Dec 2, 2022)		criteria provided, conflicting interpretations
86.
GRCh37:
Chr8:72128968
GRCh38:
Chr8:71216733
EYA1R440Q, R318Q, R433Q, R434Q, R469QMelnick-Fraser syndrome, Rare genetic deafness, Branchiootic syndrome 1
Pathogenic/Likely pathogenic
(Aug 2, 2022)		criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr8:72123391-72123394
GRCh38:
Chr8:71211156-71211159
EYA1K558fs, K565fs, K594fs, K559fs, K443fsBranchiootorenal syndrome 1Pathogenic
(Jan 1, 1998)		no assertion criteria provided
88.
EYA1Branchiootorenal syndrome 1Pathogenic
(Dec 1, 1997)		no assertion criteria provided
89.
GRCh37:
Chr8:72128937
GRCh38:
Chr8:71216702
EYA1N329fs, N444fs, N445fs, N451fs, N480fsBranchiootorenal syndrome 1Pathogenic
(Feb 1, 1997)		no assertion criteria provided
90.
GRCh37:
Chr8:72184037
GRCh38:
Chr8:71271802
EYA1R308*, R186*, R302*, R337*, R331*, R332*Rare genetic deafness, Melnick-Fraser syndrome, not provided
Pathogenic
(Jun 14, 2022)		criteria provided, multiple submitters, no conflicts
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