S I D E B A R
Format
Items per page
Sort by

Download:

Choose Destination

Links from Gene

Items: 25

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:110155623
GRCh38:
Chr1:109613001
GNAT2AchromatopsiaGMAF:0.00020(T)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
2.
GRCh37:
Chr1:110155580
GRCh38:
Chr1:109612958
GNAT2AchromatopsiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
3.
GRCh37:
Chr1:110155479
GRCh38:
Chr1:109612857
GNAT2AchromatopsiaGO-ESP:0.00017(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr1:110152708
GRCh38:
Chr1:109610086
GNAT2AchromatopsiaGMAF:0.00020(T)
GO-ESP:0.00090(T)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr1:110151345
GRCh38:
Chr1:109608723
GNAT2AchromatopsiaGMAF:0.00260(A)
GO-ESP:0.00077(A)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr1:110151287
GRCh38:
Chr1:109608665
GNAT2AchromatopsiaGO-ESP:0.00036(T)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr1:110148703
GRCh38:
Chr1:109606081
GNAT2AchromatopsiaGMAF:0.00020(A)
GO-ESP:0.00008(A)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr1:110148640
GRCh38:
Chr1:109606018
GNAT2AchromatopsiaGO-ESP:0.00001(G)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr1:110146113
GRCh38:
Chr1:109603491
GNAT2AchromatopsiaGO-ESP:0.00025(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr1:110148974
GRCh38:
Chr1:109606352
GNAT2Achromatopsia, not specifiedGMAF:0.37860(T)
GO-ESP:0.44904(T)
Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr1:110151395
GRCh38:
Chr1:109608773
GNAT2Achromatopsia, not specifiedGMAF:0.08870(T)
GO-ESP:0.05014(T)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr1:110155524
GRCh38:
Chr1:109612902
GNAT2Achromatopsia, not specifiedGMAF:0.12060(C)
GO-ESP:0.15256(C)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr1:110146108
GRCh38:
Chr1:109603486
GNAT2Achromatopsia, not specifiedGMAF:0.00300(G)
GO-ESP:0.00520(G)
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
14.
GRCh37:
Chr1:110151344
GRCh38:
Chr1:109608722
GNAT2Achromatopsia, not specifiedGMAF:0.00260(T)
GO-ESP:0.00545(T)
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
15.
GRCh37:
Chr1:110153101
GRCh38:
Chr1:109610479
GNAT2Achromatopsia, not specifiedGMAF:0.00920(A)
GO-ESP:0.00285(A)
Uncertain significance
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr1:104868106-120471049
GRCh38:
Chr1:104325484-119977655
See casesPathogenic
(Aug 13, 2012)
no assertion criteria provided
17.
GRCh37:
Chr1:106010914-112733248
GRCh38:
Chr1:105468292-112190626
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
18.
GRCh37:
Chr1:109512869-110336844
GRCh38:
Chr1:108970247-109794222
See casesUncertain significance
(Sep 18, 2012)
no assertion criteria provided
19.
GRCh37:
Chr1:106617209-110686912
GRCh38:
Chr1:106074587-110144290
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
20.
GRCh37:
Chr1:102083653-112245650
GRCh38:
Chr1:101618097-111703028
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
21.
GRCh37:
Chr1:97876158-111213132
GRCh38:
Chr1:97410602-110670510
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
22.
GRCh37:
Chr1:110151229
GRCh38:
Chr1:109608607
GNAT2Achromatopsia 4Pathogenic
(Jun 27, 2013)
no assertion criteria provided
23.
GNAT2Achromatopsia 4Pathogenic
(Dec 1, 2004)
no assertion criteria provided
24.
GNAT2Achromatopsia 4Pathogenic
(Sep 1, 2002)
no assertion criteria provided
25.
GRCh37:
Chr1:110152730
GRCh38:
Chr1:109610108
GNAT2Achromatopsia 4Pathogenic
(Aug 1, 2002)
no assertion criteria provided
Format
Items per page
Sort by

Download:

Choose Destination
Support Center