Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 582

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr6:133595919-133595971
EYA4Dilated cardiomyopathy 1JUncertain significance
(Apr 24, 2022)
criteria provided, single submitter
2.
GRCh37:
Chr6:133782232-133783922
EYA4Dilated cardiomyopathy 1JPathogenic
(Nov 5, 2021)
criteria provided, single submitter
3.
GRCh37:
Chr6:133769302
GRCh38:
Chr6:133448164
EYA4P88TDilated cardiomyopathy 1JUncertain significance
(Feb 6, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr6:133782241
GRCh38:
Chr6:133461103
EYA4Dilated cardiomyopathy 1JLikely benign
(Sep 28, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr6:133834139
GRCh38:
Chr6:133513001
EYA4, TARIDDilated cardiomyopathy 1JLikely benign
(Dec 24, 2021)
criteria provided, single submitter
6.
GRCh37:
Chr6:133827230
GRCh38:
Chr6:133506092
EYA4, LOC126859796, TARIDDilated cardiomyopathy 1JLikely benign
(Mar 14, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr6:133849849
GRCh38:
Chr6:133528711
TARID, EYA4Dilated cardiomyopathy 1JLikely benign
(May 4, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr6:133703599
GRCh38:
Chr6:133382461
EYA4Dilated cardiomyopathy 1JLikely benign
(Sep 23, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr6:133789723
GRCh38:
Chr6:133468585
EYA4A252D, A221D, A275DDilated cardiomyopathy 1JUncertain significance
(Apr 16, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr6:133804269-133804270
GRCh38:
Chr6:133483131-133483132
EYA4Dilated cardiomyopathy 1JLikely benign
(Jan 10, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr6:133777749
GRCh38:
Chr6:133456611
EYA4Dilated cardiomyopathy 1JLikely benign
(Sep 22, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr6:133789819
GRCh38:
Chr6:133468681
EYA4T253N, T284N, T307NDilated cardiomyopathy 1JUncertain significance
(Jan 16, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr6:133844315
GRCh38:
Chr6:133523177
TARID, EYA4G557R, G580R, G557S, G580S, G526S, G532R, G586RDilated cardiomyopathy 1JUncertain significance
(Aug 22, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr6:133777752
GRCh38:
Chr6:133456614
EYA4Dilated cardiomyopathy 1JLikely benign
(Mar 20, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr6:133785956
GRCh38:
Chr6:133464818
EYA4N232S, N201S, N255SDilated cardiomyopathy 1JUncertain significance
(Jan 11, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr6:133827220-133827224
GRCh38:
Chr6:133506082-133506086
EYA4, LOC126859796, TARIDDilated cardiomyopathy 1JLikely benign
(Mar 18, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr6:133849852
GRCh38:
Chr6:133528714
EYA4, TARIDDilated cardiomyopathy 1JLikely benign
(Mar 2, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr6:133767902
GRCh38:
Chr6:133446764
EYA4Dilated cardiomyopathy 1JLikely benign
(Jan 3, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr6:133789829
GRCh38:
Chr6:133468691
EYA4Dilated cardiomyopathy 1JLikely benign
(May 12, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr6:133846354
GRCh38:
Chr6:133525216
TARID, EYA4I553V, I607V, I578V, I601VDilated cardiomyopathy 1JUncertain significance
(Mar 11, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr6:133769275
GRCh38:
Chr6:133448137
EYA4A79TDilated cardiomyopathy 1JUncertain significance
(Jul 6, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr6:133783868
GRCh38:
Chr6:133462730
EYA4Q207H, Q176H, Q230HDilated cardiomyopathy 1JUncertain significance
(Apr 17, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr6:133782332
GRCh38:
Chr6:133461194
EYA4Dilated cardiomyopathy 1JUncertain significance
(Mar 19, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr6:133804259-133804261
GRCh38:
Chr6:133483121-133483123
EYA4Dilated cardiomyopathy 1JUncertain significance
(Jul 29, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr6:133804257-133804258
GRCh38:
Chr6:133483119-133483120
EYA4Dilated cardiomyopathy 1JUncertain significance
(Jul 29, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr6:133783546
GRCh38:
Chr6:133462408
EYA4G148R, G171R, G117RDilated cardiomyopathy 1JPathogenic
(Sep 25, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr6:133767759
GRCh38:
Chr6:133446621
EYA4Dilated cardiomyopathy 1JLikely benign
(May 5, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr6:133769327
GRCh38:
Chr6:133448189
EYA4Dilated cardiomyopathy 1JLikely benign
(Feb 17, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr6:133789764
GRCh38:
Chr6:133468626
EYA4T235P, T266P, T289PDilated cardiomyopathy 1JUncertain significance
(Apr 28, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr6:133777803
GRCh38:
Chr6:133456665
EYA4Dilated cardiomyopathy 1JLikely benign
(Jul 5, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr6:133844202
GRCh38:
Chr6:133523064
EYA4, TARIDC548Y, C488Y, C494Y, C519Y, C542YDilated cardiomyopathy 1JUncertain significance
(Apr 30, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr6:133785932
GRCh38:
Chr6:133464794
EYA4P224R, P247R, P193RDilated cardiomyopathy 1JUncertain significance
(Aug 30, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr6:133833937
GRCh38:
Chr6:133512799
TARID, EYA4Dilated cardiomyopathy 1JLikely benign
(Oct 31, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr6:133849848-133849850
GRCh38:
Chr6:133528710-133528712
TARID, EYA4Dilated cardiomyopathy 1JLikely benign
(Oct 1, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr6:133836477
GRCh38:
Chr6:133515339
TARID, EYA4K459T, K484T, K513T, K453T, K507TDilated cardiomyopathy 1JUncertain significance
(Sep 29, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr6:133789822
GRCh38:
Chr6:133468684
EYA4S308C, S254C, S285CDilated cardiomyopathy 1JUncertain significance
(Jan 26, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr6:133783613
GRCh38:
Chr6:133462475
EYA4Y139C, Y193C, Y170CDilated cardiomyopathy 1JUncertain significance
(Oct 9, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr6:133833907
GRCh38:
Chr6:133512769
EYA4, TARIDQ421K, Q450K, Q390K, Q396K, Q444KDilated cardiomyopathy 1JUncertain significance
(May 12, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr6:133846361
GRCh38:
Chr6:133525223
EYA4, TARIDD609A, D555A, D580A, D603ADilated cardiomyopathy 1JUncertain significance
(Apr 23, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr6:133834060
GRCh38:
Chr6:133512922
EYA4, TARIDS462I, S439I, S414I, S408I, S468IDilated cardiomyopathy 1JUncertain significance
(Apr 15, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr6:133834146
GRCh38:
Chr6:133513008
EYA4, TARIDL497fs, L437fs, L491fs, L443fs, L468fsDilated cardiomyopathy 1JPathogenic
(Oct 15, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr6:133834114
GRCh38:
Chr6:133512976
TARID, EYA4K426M, K480M, K486M, K457M, K432MDilated cardiomyopathy 1JUncertain significance
(Oct 18, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr6:133802748
GRCh38:
Chr6:133481610
EYA4Dilated cardiomyopathy 1JLikely benign
(Apr 14, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr6:133833893
GRCh38:
Chr6:133512755
EYA4, TARIDS385F, S416F, S445F, S439F, S391FDilated cardiomyopathy 1JUncertain significance
(Apr 3, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr6:133783873
GRCh38:
Chr6:133462735
EYA4G178V, G232V, G209VDilated cardiomyopathy 1JUncertain significance
(Mar 29, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr6:133777720
GRCh38:
Chr6:133456582
EYA4P102A, P79ADilated cardiomyopathy 1JUncertain significance
(Mar 25, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr6:133836531
GRCh38:
Chr6:133515393
EYA4, TARIDW471*, W477*, W525*, W531*, W502*Dilated cardiomyopathy 1JPathogenic
(Mar 15, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr6:133846300
GRCh38:
Chr6:133525162
TARID, EYA4S560G, S589G, S535G, S583GDilated cardiomyopathy 1JUncertain significance
(Mar 13, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr6:133833868
GRCh38:
Chr6:133512730
TARID, EYA4Q377*, Q383*, Q408*, Q431*, Q437*Dilated cardiomyopathy 1JPathogenic
(Feb 23, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr6:133782250
GRCh38:
Chr6:133461112
EYA4Dilated cardiomyopathy 1JLikely pathogenic
(Mar 1, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr6:133789862
GRCh38:
Chr6:133468724
EYA4N298K, N321K, N267KDilated cardiomyopathy 1JUncertain significance
(Feb 7, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr6:133767782
GRCh38:
Chr6:133446644
EYA4Q33PDilated cardiomyopathy 1J, Cardiovascular phenotypeUncertain significance
(Jan 18, 2023)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr6:133783879
GRCh38:
Chr6:133462741
EYA4T180I, T234I, T211IDilated cardiomyopathy 1JUncertain significance
(Apr 4, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr6:133802615
GRCh38:
Chr6:133481477
EYA4M275L, M335L, M281L, M306L, M329LDilated cardiomyopathy 1JUncertain significance
(Feb 19, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr6:133767825
GRCh38:
Chr6:133446687
EYA4Dilated cardiomyopathy 1JLikely benign
(Jan 28, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr6:133777758
GRCh38:
Chr6:133456620
EYA4Dilated cardiomyopathy 1JLikely benign
(Jan 26, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr6:133789881
GRCh38:
Chr6:133468743
EYA4H274Y, H328YDilated cardiomyopathy 1JLikely benign
(Mar 21, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr6:133777803
GRCh38:
Chr6:133456665
EYA4Dilated cardiomyopathy 1JLikely benign
(Jun 13, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr6:133769301
GRCh38:
Chr6:133448163
EYA4Dilated cardiomyopathy 1JLikely benign
(Sep 14, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr6:133827224
GRCh38:
Chr6:133506086
EYA4, LOC126859796, TARIDDilated cardiomyopathy 1JLikely benign
(Jan 15, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr6:133783765
GRCh38:
Chr6:133462627
EYA4G142A, G196A, G173ADilated cardiomyopathy 1JUncertain significance
(Jul 22, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr6:133836447
GRCh38:
Chr6:133515309
EYA4, TARIDDilated cardiomyopathy 1JLikely benign
(Jan 15, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr6:133836473
GRCh38:
Chr6:133515335
EYA4, TARIDA483T, A452T, A512T, A458T, A506TDilated cardiomyopathy 1JUncertain significance
(Apr 18, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr6:133802716
GRCh38:
Chr6:133481578
EYA4Dilated cardiomyopathy 1JLikely benign
(Sep 23, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr6:133783456
GRCh38:
Chr6:133462318
EYA4Dilated cardiomyopathy 1JLikely benign
(Jan 11, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr6:133777779
GRCh38:
Chr6:133456641
EYA4Dilated cardiomyopathy 1JLikely benign
(Jan 15, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr6:133789875
GRCh38:
Chr6:133468737
EYA4D272fs, D326fsDilated cardiomyopathy 1JUncertain significance
(Apr 23, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr6:133783761
GRCh38:
Chr6:133462623
EYA4Dilated cardiomyopathy 1JLikely benign
(Jun 24, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr6:133834171
GRCh38:
Chr6:133513033
EYA4, TARIDV451G, V476G, V499G, V445G, V505GDilated cardiomyopathy 1J, Cardiovascular phenotypeUncertain significance
(Dec 18, 2022)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr6:133834090
GRCh38:
Chr6:133512952
TARID, EYA4R478K, R418K, R424K, R472K, R449KDilated cardiomyopathy 1JUncertain significance
(Jan 21, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr6:133789771
GRCh38:
Chr6:133468633
EYA4G291E, G268E, G237EDilated cardiomyopathy 1JUncertain significance
(Jan 1, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr6:133802659
GRCh38:
Chr6:133481521
EYA4Dilated cardiomyopathy 1JLikely benign
(Apr 12, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr6:133783830
GRCh38:
Chr6:133462692
EYA4G164C, G195C, G218CDilated cardiomyopathy 1JUncertain significance
(Mar 5, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr6:133802753
GRCh38:
Chr6:133481615
EYA4Dilated cardiomyopathy 1JLikely benign
(May 21, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr6:133834018
GRCh38:
Chr6:133512880
EYA4, TARIDT400I, T394I, T425I, T448I, T454IDilated cardiomyopathy 1JUncertain significance
(Dec 23, 2021)
criteria provided, single submitter
76.
GRCh37:
Chr6:133783884
GRCh38:
Chr6:133462746
EYA4Y182H, Y213H, Y236HDilated cardiomyopathy 1JUncertain significance
(Aug 5, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr6:133834000
GRCh38:
Chr6:133512862
EYA4, TARIDDilated cardiomyopathy 1JLikely benign
(Oct 31, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr6:133769303
GRCh38:
Chr6:133448165
EYA4P88LDilated cardiomyopathy 1JUncertain significance
(Feb 25, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr6:133802614
GRCh38:
Chr6:133481476
EYA4Dilated cardiomyopathy 1JLikely benign
(Sep 23, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr6:133804227
GRCh38:
Chr6:133483089
EYA4G366R, G335R, G341R, G389R, G395RInborn genetic diseases, Dilated cardiomyopathy 1JUncertain significance
(Jun 25, 2022)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr6:133844204
GRCh38:
Chr6:133523066
EYA4, TARIDI549L, I495L, I489L, I520L, I543LDilated cardiomyopathy 1JUncertain significance
(Aug 31, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr6:133789792
GRCh38:
Chr6:133468654
EYA4N298T, N244T, N275TDilated cardiomyopathy 1JUncertain significance
(Apr 28, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr6:133703534
GRCh38:
Chr6:133382396
EYA4K13RDilated cardiomyopathy 1JUncertain significance
(Feb 18, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr6:133846272
GRCh38:
Chr6:133525134
EYA4, TARIDDilated cardiomyopathy 1JLikely benign
(Jul 29, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr6:133777787
GRCh38:
Chr6:133456649
EYA4Dilated cardiomyopathy 1JLikely pathogenic
(Jul 8, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr6:133846332
GRCh38:
Chr6:133525194
EYA4, TARIDDilated cardiomyopathy 1JLikely benign
(Aug 22, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr6:133777676
GRCh38:
Chr6:133456538
EYA4Dilated cardiomyopathy 1JLikely benign
(Jun 17, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr6:133836485
GRCh38:
Chr6:133515347
TARID, EYA4A456S, A462S, A516S, A487S, A510SDilated cardiomyopathy 1JUncertain significance
(Jun 14, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr6:133827297
GRCh38:
Chr6:133506159
EYA4, LOC126859796, TARIDDilated cardiomyopathy 1JLikely benign
(Jun 13, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr6:133846271-133846279
GRCh38:
Chr6:133525133-133525141
TARID, EYA4Dilated cardiomyopathy 1JUncertain significance
(Jun 10, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr6:133834065
GRCh38:
Chr6:133512927
TARID, EYA4N470D, N416D, N410D, N464D, N441DDilated cardiomyopathy 1JUncertain significance
(Jun 10, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr6:133703599
GRCh38:
Chr6:133382461
EYA4Dilated cardiomyopathy 1JLikely benign
(Jun 8, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr6:133827301
GRCh38:
Chr6:133506163
EYA4, LOC126859796, TARIDA369S, A394S, A423S, A363S, A417SDilated cardiomyopathy 1JUncertain significance
(Jul 14, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr6:133783619
GRCh38:
Chr6:133462481
EYA4Dilated cardiomyopathy 1JUncertain significance
(May 25, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr6:133767773
GRCh38:
Chr6:133446635
EYA4M30RDilated cardiomyopathy 1JUncertain significance
(Mar 3, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr6:133804150-133804151
GRCh38:
Chr6:133483012-133483013
EYA4Dilated cardiomyopathy 1JLikely benign
(Sep 23, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr6:133782321
GRCh38:
Chr6:133461183
EYA4Dilated cardiomyopathy 1JUncertain significance
(Oct 17, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr6:133783600
GRCh38:
Chr6:133462462
EYA4S166G, S189G, S135GDilated cardiomyopathy 1JUncertain significance
(Mar 8, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr6:133783523
GRCh38:
Chr6:133462385
EYA4Y163C, Y109C, Y140CDilated cardiomyopathy 1JUncertain significance
(Apr 11, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr6:133769282
GRCh38:
Chr6:133448144
EYA4W81*Dilated cardiomyopathy 1JPathogenic
(Dec 23, 2021)
criteria provided, single submitter
Format
Items per page
Sort by
Choose Destination