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Items: 1 to 100 of 191

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
EYA1Melnick-Fraser syndromePathogenic
(Aug 1, 2000)
no assertion criteria provided
2.
EYA1Melnick-Fraser syndromePathogenic
(Dec 1, 1997)
no assertion criteria provided
3.
EYA1Branchiootic syndromePathogenic
(Jul 1, 1997)
no assertion criteria provided
4.
EYA1Branchiootic syndromePathogenic
(Jul 1, 1997)
no assertion criteria provided
5.
EYA1Melnick-Fraser syndromePathogenic
(Feb 1, 1997)
no assertion criteria provided
6.
GRCh37:
Chr8:72109661
GRCh38:
Chr8:71197426
EYA1Otofaciocervical syndrome 1, Branchiootorenal Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr8:72109685
GRCh38:
Chr8:71197450
EYA1Otofaciocervical syndrome 1, Branchiootorenal Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr8:72109903
GRCh38:
Chr8:71197668
EYA1Otofaciocervical syndrome 1, Branchiootorenal Spectrum DisordersUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr8:72109977
GRCh38:
Chr8:71197742
EYA1Otofaciocervical syndrome 1, Branchiootorenal Spectrum DisordersUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr8:72109994
GRCh38:
Chr8:71197759
EYA1Otofaciocervical syndrome 1, Branchiootorenal Spectrum DisordersBenign
(Jun 14, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr8:72110007-72110010
GRCh38:
Chr8:71197772-71197775
EYA1Otofaciocervical syndrome 1, Branchiootorenal Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr8:72110200-72110203
GRCh38:
Chr8:71197965-71197968
EYA1Otofaciocervical syndrome 1, Branchiootorenal Spectrum DisordersUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr8:72110251
GRCh38:
Chr8:71198016
EYA1Otofaciocervical syndrome 1, Branchiootorenal Spectrum DisordersBenign
(Jun 14, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr8:72110265
GRCh38:
Chr8:71198030
EYA1Otofaciocervical syndrome 1, Branchiootorenal Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr8:72110300
GRCh38:
Chr8:71198065
EYA1Otofaciocervical syndrome 1, Branchiootorenal Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr8:72110312
GRCh38:
Chr8:71198077
EYA1Otofaciocervical syndrome 1, Branchiootorenal Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr8:72110353
GRCh38:
Chr8:71198118
EYA1Otofaciocervical syndrome 1, Branchiootorenal Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr8:72110353-72110355
GRCh38:
Chr8:71198118-71198120
EYA1Otofaciocervical syndrome 1, Branchiootorenal Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr8:72110437-72110440
GRCh38:
Chr8:71198202-71198205
EYA1Otofaciocervical syndrome 1, Branchiootorenal Spectrum DisordersUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr8:72110674
GRCh38:
Chr8:71198439
EYA1Otofaciocervical syndrome 1, Branchiootorenal Spectrum DisordersUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr8:72110727
GRCh38:
Chr8:71198492
EYA1Otofaciocervical syndrome 1, Branchiootorenal Spectrum DisordersUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr8:72110775
GRCh38:
Chr8:71198540
EYA1Otofaciocervical syndrome 1, Branchiootorenal Spectrum DisordersBenign
(Jun 14, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr8:72110791
GRCh38:
Chr8:71198556
EYA1Otofaciocervical syndrome 1, Branchiootorenal Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr8:72110802-72110805
GRCh38:
Chr8:71198567-71198570
EYA1Otofaciocervical syndrome 1, Branchiootorenal Spectrum DisordersUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr8:72110870
GRCh38:
Chr8:71198635
EYA1Otofaciocervical syndrome 1, Branchiootorenal Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr8:72111030
GRCh38:
Chr8:71198795
EYA1Otofaciocervical syndrome 1, Branchiootorenal Spectrum DisordersUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr8:72111063-72111066
GRCh38:
Chr8:71198828-71198831
EYA1Otofaciocervical syndrome 1, Branchiootorenal Spectrum DisordersBenign
(Jun 14, 2016)
criteria provided, single submitter
28.
GRCh37:
Chr8:72111133
GRCh38:
Chr8:71198898
EYA1Otofaciocervical syndrome 1, Branchiootorenal Spectrum DisordersUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr8:72111222
GRCh38:
Chr8:71198987
EYA1Otofaciocervical syndrome 1, Branchiootorenal Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr8:72111458
GRCh38:
Chr8:71199223
EYA1Otofaciocervical syndrome 1, Branchiootorenal Spectrum DisordersUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr8:72111489
GRCh38:
Chr8:71199254
EYA1Otofaciocervical syndrome 1, Branchiootorenal Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr8:72111552
GRCh38:
Chr8:71199317
EYA1Otofaciocervical syndrome 1, Branchiootorenal Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr8:72111599
GRCh38:
Chr8:71199364
EYA1Otofaciocervical syndrome 1, Branchiootorenal Spectrum Disorders, not specified
Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr8:72111606
GRCh38:
Chr8:71199371
EYA1Melnick-Fraser syndromeLikely pathogenic
(Dec 28, 2012)
criteria provided, single submitter
35.
GRCh37:
Chr8:72111620
GRCh38:
Chr8:71199385
EYA1not specifiedLikely benign
(Jan 25, 2017)
criteria provided, single submitter
36.
GRCh37:
Chr8:72111640
GRCh38:
Chr8:71199405
EYA1not providedLikely pathogenic
(Oct 7, 2016)
criteria provided, single submitter
37.
GRCh37:
Chr8:72111653
GRCh38:
Chr8:71199418
EYA1Otofaciocervical syndrome 1, Branchiootorenal Spectrum DisordersUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr8:72111658
GRCh38:
Chr8:71199423
EYA1Otofaciocervical syndrome 1, Branchiootorenal Spectrum Disorders, not specified
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr8:72111663
GRCh38:
Chr8:71199428
EYA1Otofaciocervical syndrome 1, Branchiootorenal Spectrum Disorders, not specified
Conflicting interpretations of pathogenicity
(Jun 6, 2017)
criteria provided, conflicting interpretations
40.
GRCh37:
Chr8:72123391-72123392
GRCh38:
Chr8:71211156-71211157
EYA1Melnick-Fraser syndromePathogenic
(Oct 28, 2010)
criteria provided, single submitter
41.
GRCh37:
Chr8:72123391-72123394
GRCh38:
Chr8:71211156-71211159
EYA1Melnick-Fraser syndromePathogenic
(Jan 1, 1998)
no assertion criteria provided
42.
GRCh37:
Chr8:72123405
GRCh38:
Chr8:71211170
EYA1Melnick-Fraser syndromePathogenic
(Sep 27, 2016)
criteria provided, single submitter
43.
GRCh37:
Chr8:72123430-72123432
GRCh38:
Chr8:71211195-71211197
EYA1Melnick-Fraser syndromeUncertain significance
(May 24, 2018)
criteria provided, single submitter
44.
GRCh37:
Chr8:72123450
GRCh38:
Chr8:71211215
EYA1Anterior segment anomalies and cataractPathogenic
(Feb 12, 2000)
no assertion criteria provided
45.
GRCh37:
Chr8:72123474
GRCh38:
Chr8:71211239
EYA1Branchiootic syndrome, Melnick-Fraser syndrome, Otofaciocervical syndrome 1
Likely pathogenic
(Jun 23, 2016)
no assertion criteria provided
46.
GRCh37:
Chr8:72123480
GRCh38:
Chr8:71211245
EYA1Melnick-Fraser syndromeUncertain significance
(Dec 11, 2017)
criteria provided, single submitter
47.
GRCh37:
Chr8:72123506
GRCh38:
Chr8:71211271
EYA1not specifiedBenign
(Nov 23, 2015)
criteria provided, single submitter
48.
GRCh37:
Chr8:72127621
GRCh38:
Chr8:71215386
EYA1not providedPathogenic
(Sep 16, 2018)
criteria provided, single submitter
49.
GRCh37:
Chr8:72127622
GRCh38:
Chr8:71215387
EYA1not providedPathogenic
(Sep 16, 2018)
criteria provided, single submitter
50.
GRCh37:
Chr8:72127640
GRCh38:
Chr8:71215405
EYA1Melnick-Fraser syndromeLikely pathogenic
(Jun 20, 2017)
criteria provided, single submitter
51.
GRCh37:
Chr8:72127688
GRCh38:
Chr8:71215453
EYA1not providedPathogenic
(Jun 1, 2015)
criteria provided, single submitter
52.
GRCh37:
Chr8:72127696
GRCh38:
Chr8:71215461
EYA1Melnick-Fraser syndromeUncertain significance
(Sep 1, 2016)
no assertion criteria provided
53.
GRCh37:
Chr8:72127705
GRCh38:
Chr8:71215470
EYA1Melnick-Fraser syndromePathogenic
(Dec 1, 1997)
no assertion criteria provided
54.
GRCh37:
Chr8:72127712-72127718
GRCh38:
Chr8:71215477-71215483
EYA1Branchiootic syndromePathogenic
(Jul 1, 2004)
no assertion criteria provided
55.
GRCh37:
Chr8:72127736
GRCh38:
Chr8:71215501
EYA1not providedLikely pathogenic
(Sep 16, 2018)
criteria provided, single submitter
56.
GRCh37:
Chr8:72127834
GRCh38:
Chr8:71215599
EYA1Otofaciocervical syndrome 1, Branchiootorenal Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitter
57.
GRCh37:
Chr8:72127848
GRCh38:
Chr8:71215613
EYA1Melnick-Fraser syndromePathogenic
(Feb 17, 2014)
criteria provided, single submitter
58.
GRCh37:
Chr8:72127864
GRCh38:
Chr8:71215629
EYA1Otofaciocervical syndrome 1, Branchiootorenal Spectrum Disorders, not specified,
not provided
Conflicting interpretations of pathogenicity
(Dec 5, 2017)
criteria provided, conflicting interpretations
59.
GRCh37:
Chr8:72127865
GRCh38:
Chr8:71215630
EYA1Melnick-Fraser syndromePathogenic
(Dec 1, 1997)
no assertion criteria provided
60.
GRCh37:
Chr8:72127898
GRCh38:
Chr8:71215663
EYA1not specifiedUncertain significance
(Jan 22, 2015)
criteria provided, single submitter
61.
GRCh37:
Chr8:72127899
GRCh38:
Chr8:71215664
EYA1not specifiedLikely benign
(Sep 4, 2013)
criteria provided, single submitter
62.
GRCh37:
Chr8:72127922
GRCh38:
Chr8:71215687
EYA1not specifiedUncertain significance
(Oct 16, 2013)
criteria provided, single submitter
63.
GRCh37:
Chr8:72127947
GRCh38:
Chr8:71215712
EYA1not specifiedLikely benign
(Mar 25, 2015)
criteria provided, single submitter
64.
GRCh37:
Chr8:72127964
GRCh38:
Chr8:71215729
EYA1Melnick-Fraser syndromePathogenic
(Nov 24, 2010)
criteria provided, single submitter
65.
GRCh37:
Chr8:72128925
GRCh38:
Chr8:71216690
EYA1not specifiedUncertain significance
(Aug 6, 2013)
criteria provided, single submitter
66.
GRCh37:
Chr8:72128957-72128958
GRCh38:
Chr8:71216722-71216723
EYA1Melnick-Fraser syndromePathogenic
(Nov 14, 2017)
criteria provided, single submitter
67.
GRCh37:
Chr8:72128968
GRCh38:
Chr8:71216733
EYA1Melnick-Fraser syndromePathogenic
(Jun 23, 2018)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr8:72128969
GRCh38:
Chr8:71216734
EYA1not specifiedUncertain significance
(Jul 5, 2015)
criteria provided, single submitter
69.
GRCh37:
Chr8:72128992
GRCh38:
Chr8:71216757
EYA1not specifiedUncertain significance
(Jul 24, 2014)
criteria provided, single submitter
70.
GRCh37:
Chr8:72129009
GRCh38:
Chr8:71216774
EYA1Otofaciocervical syndrome 1, Branchiootorenal Spectrum Disorders, not specified
Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr8:72129011
GRCh38:
Chr8:71216776
EYA1Melnick-Fraser syndrome, Otofaciocervical syndrome 1, Branchiootorenal Spectrum Disorders,
Branchiootorenal syndrome with cataract, not specified, not provided
Conflicting interpretations of pathogenicity
(May 21, 2018)
criteria provided, conflicting interpretations
72.
GRCh37:
Chr8:72129029
GRCh38:
Chr8:71216794
EYA1Otofaciocervical syndrome 1, Branchiootorenal Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitter
73.
GRCh37:
Chr8:72129088
GRCh38:
Chr8:71216853
EYA1Melnick-Fraser syndromePathogenic
(May 17, 2018)
criteria provided, single submitter
74.
GRCh37:
Chr8:72129098
GRCh38:
Chr8:71216863
EYA1Otofaciocervical syndrome 1, Branchiootorenal Spectrum Disorders, not specified
Benign/Likely benign
(Nov 17, 2016)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr8:72129187
GRCh38:
Chr8:71216952
EYA1not specifiedLikely benign
(Apr 30, 2012)
criteria provided, single submitter
76.
GRCh37:
Chr8:72129213
GRCh38:
Chr8:71216978
EYA1not specifiedUncertain significance
(Oct 5, 2013)
criteria provided, single submitter
77.
GRCh37:
Chr8:72129214
GRCh38:
Chr8:71216979
EYA1not specifiedLikely benign
(May 5, 2015)
criteria provided, single submitter
78.
GRCh37:
Chr8:72129273
GRCh38:
Chr8:71217038
EYA1Otofaciocervical syndrome 1, Branchiootorenal Spectrum Disorders, not specified
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr8:72156831-72156834
GRCh38:
Chr8:71244596-71244599
EYA1Melnick-Fraser syndromeUncertain significance
(Mar 3, 2017)
criteria provided, single submitter
80.
GRCh37:
Chr8:72156856
GRCh38:
Chr8:71244621
EYA1Melnick-Fraser syndromePathogenic
(Feb 14, 2011)
criteria provided, single submitter
81.
GRCh37:
Chr8:72156860-72156861
GRCh38:
Chr8:71244625-71244626
EYA1not providedPathogenic
(Jul 8, 2016)
criteria provided, single submitter
82.
GRCh37:
Chr8:72156871
GRCh38:
Chr8:71244636
EYA1Malignant tumor of prostateUncertain significanceno assertion criteria provided
83.
GRCh37:
Chr8:72156888
GRCh38:
Chr8:71244653
EYA1Melnick-Fraser syndromePathogenic
(Jan 12, 2016)
criteria provided, single submitter
84.
GRCh37:
Chr8:72156891
GRCh38:
Chr8:71244656
EYA1Anterior segment anomaliesPathogenic
(Feb 12, 2000)
no assertion criteria provided
85.
GRCh37:
Chr8:72156897
GRCh38:
Chr8:71244662
EYA1Branchiootic syndrome, Melnick-Fraser syndromePathogenic
(May 12, 2018)
criteria provided, single submitter
86.
GRCh37:
Chr8:72181981
GRCh38:
Chr8:71269746
EYA1Melnick-Fraser syndromePathogenic
(Aug 12, 2017)
criteria provided, single submitter
87.
GRCh37:
Chr8:72182009-72182012
GRCh38:
Chr8:71269774-71269777
EYA1Melnick-Fraser syndromePathogenic
(Sep 15, 2017)
criteria provided, single submitter
88.
GRCh37:
Chr8:72182071
GRCh38:
Chr8:71269836
EYA1not specifiedLikely benign
(Oct 18, 2016)
criteria provided, single submitter
89.
GRCh37:
Chr8:72183985
GRCh38:
Chr8:71271750
EYA1not specifiedLikely benign
(Aug 23, 2017)
criteria provided, single submitter
90.
GRCh37:
Chr8:72183988
GRCh38:
Chr8:71271753
EYA1Melnick-Fraser syndromePathogeniccriteria provided, single submitter
91.
GRCh37:
Chr8:72183989
GRCh38:
Chr8:71271754
EYA1Otofaciocervical syndrome 1, Branchiootorenal Spectrum Disorders, not specified
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr8:72184036
GRCh38:
Chr8:71271801
EYA1Otofaciocervical syndrome 1, Branchiootorenal Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitter
93.
GRCh37:
Chr8:72184037
GRCh38:
Chr8:71271802
EYA1Melnick-Fraser syndromePathogenic
(Sep 17, 2011)
criteria provided, single submitter
94.
GRCh37:
Chr8:72184063
GRCh38:
Chr8:71271828
EYA1Melnick-Fraser syndromePathogenic
(Nov 5, 2015)
criteria provided, single submitter
95.
GRCh37:
Chr8:72184069
GRCh38:
Chr8:71271834
EYA1Otofaciocervical syndrome 1, Branchiootorenal Spectrum Disorders, not specified
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
96.
GRCh37:
Chr8:72184070
GRCh38:
Chr8:71271835
EYA1Melnick-Fraser syndrome, not providedPathogenic
(Jan 18, 2018)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr8:72184094
GRCh38:
Chr8:71271859
EYA1not specifiedUncertain significance
(Apr 26, 2017)
criteria provided, single submitter
98.
GRCh37:
Chr8:72184119
GRCh38:
Chr8:71271884
EYA1Melnick-Fraser syndrome, Otofaciocervical syndrome 1, Branchiootorenal Spectrum Disorders,
not specified
Benign/Likely benign
(Nov 9, 2017)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr8:72211295
GRCh38:
Chr8:71299060
EYA1Otofaciocervical syndrome 1, Branchiootorenal Spectrum Disorders, not specified
Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr8:72211325
GRCh38:
Chr8:71299090
EYA1Otofaciocervical syndrome 1, Branchiootorenal Spectrum DisordersUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
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