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ClinVar for Gene (Select 1406)

Items: 53

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr19:48343017
GRCh38:
Chr19:47839760
CRXnot providedLikely pathogeniccriteria provided, single submitter
2.
GRCh37:
Chr19:48342598
GRCh38:
Chr19:47839341
CRXnot providedLikely pathogeniccriteria provided, single submitter
3.
GRCh37:
Chr19:48339497
GRCh38:
Chr19:47836240
CRXnot providedUncertain significance
(Apr 23, 2014)
criteria provided, single submitter
4.
GRCh37:
Chr19:48339506
GRCh38:
Chr19:47836249
CRXMalignant tumor of prostateUncertain significanceno assertion criteria provided
5.
GRCh37:
Chr19:48336075-48405937
GRCh38:
Chr19:47832818-47902680
CRX, SULT2A1, LINC01595See casesUncertain significance
(Feb 18, 2011)
no assertion criteria provided
6.
GRCh37:
Chr19:45474677-48760659
GRCh38:
Chr19:44971420-48257402
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
7.
GRCh37:
Chr19:48343221
GRCh38:
Chr19:47839964
CRXRetinitis pigmentosaLikely pathogenicno assertion criteria provided
8.
GRCh37:
Chr19:48339592
GRCh38:
Chr19:47836335
CRXRetinitis pigmentosaPathogenicno assertion criteria provided
9.
GRCh37:
Chr19:48343142
GRCh38:
Chr19:47839885
CRXnot providednot providedno assertion provided
10.
GRCh37:
Chr19:48343113
GRCh38:
Chr19:47839856
CRXnot providednot providedno assertion provided
11.
GRCh37:
Chr19:48343077
GRCh38:
Chr19:47839820
CRXnot providednot providedno assertion provided
12.
GRCh37:
Chr19:48343048
GRCh38:
Chr19:47839791
CRXnot providedGO-ESP:0.00646(A)
GMAF:0.00360(A)
not providedno assertion provided
13.
GRCh37:
Chr19:48343033
GRCh38:
Chr19:47839776
CRXnot providednot providedno assertion provided
14.
GRCh37:
Chr19:48342974
GRCh38:
Chr19:47839717
CRXnot providednot providedno assertion provided
15.
GRCh37:
Chr19:48342939
GRCh38:
Chr19:47839682
CRXnot providednot providedno assertion provided
16.
GRCh37:
Chr19:48342921
GRCh38:
Chr19:47839664
CRXnot providedGO-ESP:0.00023(T)not providedno assertion provided
17.
GRCh37:
Chr19:48342911-48342914
GRCh38:
Chr19:47839654-47839657
CRXnot providednot providedno assertion provided
18.
GRCh37:
Chr19:48342909
GRCh38:
Chr19:47839652
CRXnot providednot providedno assertion provided
19.
GRCh37:
Chr19:48342895
GRCh38:
Chr19:47839638
CRXnot providednot providedno assertion provided
20.
GRCh37:
Chr19:48342873
GRCh38:
Chr19:47839616
CRXnot providedGO-ESP:0.00031(A)
GMAF:0.00080(A)
not providedno assertion provided
21.
GRCh37:
Chr19:48342865
GRCh38:
Chr19:47839608
CRXnot providednot providedno assertion provided
22.
GRCh37:
Chr19:48342844
GRCh38:
Chr19:47839587
CRXnot providednot providedno assertion provided
23.
GRCh37:
Chr19:48342829
GRCh38:
Chr19:47839572
CRXnot providednot providedno assertion provided
24.
GRCh37:
Chr19:48342825-48342826
GRCh38:
Chr19:47839568-47839569
CRXnot providednot providedno assertion provided
25.
GRCh37:
Chr19:48342796
GRCh38:
Chr19:47839539
CRXnot specified, not providedGO-ESP:0.03114(A)
GMAF:0.02500(A)
Benign
(Sep 15, 2014)
criteria provided, single submitter
26.
GRCh37:
Chr19:48342768
GRCh38:
Chr19:47839511
CRXnot providednot providedno assertion provided
27.
GRCh37:
Chr19:48342760-48342771
GRCh38:
Chr19:47839503-47839514
CRXnot providednot providedno assertion provided
28.
GRCh37:
Chr19:48342749
GRCh38:
Chr19:47839492
CRXnot providedGO-ESP:0.00023(G)
GMAF:0.00020(G)
not providedno assertion provided
29.
GRCh37:
Chr19:48342689
GRCh38:
Chr19:47839432
CRXnot specified, not providedGO-ESP:0.00069(A)
GMAF:0.00840(A)
Benign/Likely benign, not provided
(Dec 27, 2013)
criteria provided, single submitter
30.
GRCh37:
Chr19:48342675
GRCh38:
Chr19:47839418
CRXnot providednot providedno assertion provided
31.
GRCh37:
Chr19:48342659
GRCh38:
Chr19:47839402
CRXnot providedGMAF:0.00040(T)not providedno assertion provided
32.
GRCh37:
Chr19:48342559
GRCh38:
Chr19:47839302
CRXnot providednot providedno assertion provided
33.
GRCh37:
Chr19:48342562
GRCh38:
Chr19:47839305
CRXnot providedGO-ESP:0.00254(A)
GMAF:0.00140(A)
not providedno assertion provided
34.
GRCh37:
Chr19:48339637
GRCh38:
Chr19:47836380
CRXnot providednot providedno assertion provided
35.
GRCh37:
Chr19:48337721
GRCh38:
Chr19:47834464
CRXnot providednot providedno assertion provided
36.
GRCh37:
Chr19:48339595
GRCh38:
Chr19:47836338
CRXnot providedGO-ESP:0.00261(A)
GMAF:0.00100(A)
not providedno assertion provided
37.
GRCh37:
Chr19:48339565
GRCh38:
Chr19:47836308
CRXnot providednot providedno assertion provided
38.
GRCh37:
Chr19:48339435
GRCh38:
Chr19:47836178
CRXnot providednot providedno assertion provided
39.
GRCh37:
Chr19:48339487
GRCh38:
Chr19:47836230
CRXnot providednot providedno assertion provided
40.
GRCh37:
Chr19:48337802
GRCh38:
Chr19:47834545
CRXnot providednot providedno assertion provided
41.
GRCh37:
Chr19:48337812
GRCh38:
Chr19:47834555
CRXnot providedGO-ESP:0.14401(T)
GMAF:0.08850(T)
not providedno assertion provided
42.
GRCh37:
Chr19:48342853
GRCh38:
Chr19:47839596
CRXLeber congenital amaurosis 7, not providedPathogenic
(May 2, 2013)
no assertion criteria provided
43.
GRCh37:
Chr19:47162048-49553707
GRCh38:
Chr19:46658791-49050450
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
44.
CRXCone-rod dystrophy 2Pathogenic
(Dec 19, 2011)
no assertion criteria provided
45.
CRXCone-rod dystrophy 2Pathogenic
(Dec 19, 2011)
no assertion criteria provided
46.
CRXLeber congenital amaurosis 7Pathogenic
(Dec 19, 2011)
no assertion criteria provided
47.
GRCh37:
Chr19:48342592
GRCh38:
Chr19:47839335
CRXLeber congenital amaurosis 7, not providedPathogenic
(Dec 19, 2011)
no assertion criteria provided
48.
GRCh37:
Chr19:48339521
GRCh38:
Chr19:47836264
CRXCone-rod dystrophy 2, not providedPathogenic
(Dec 19, 2011)
no assertion criteria provided
49.
CRXLeber congenital amaurosis 7Pathogenic
(Dec 19, 2011)
no assertion criteria provided
50.
CRXLeber congenital amaurosis 7Pathogenic
(Dec 19, 2011)
no assertion criteria provided
51.
GRCh37:
Chr19:48339520
GRCh38:
Chr19:47836263
CRXCone-rod dystrophy 2, not providedPathogenic
(Dec 19, 2011)
no assertion criteria provided
52.
CRXCone-rod dystrophy 2Pathogenic
(Dec 19, 2011)
no assertion criteria provided
53.
GRCh37:
Chr19:48339638
GRCh38:
Chr19:47836381
CRXCone-rod dystrophy 2, not providedPathogenic
(Dec 19, 2011)
no assertion criteria provided
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