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Items: 12

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr5:145718765
GRCh38:
Chr5:146339202
POU4F3not specifiedGO-ESP:0.02991(T)
GMAF:0.01780(T)
Benign
(May 7, 2012)
criteria provided, single submitter
2.
GRCh37:
Chr5:145718778
GRCh38:
Chr5:146339215
POU4F3not specifiedUncertain significance
(May 15, 2013)
criteria provided, single submitter
3.
GRCh37:
Chr5:145719182
GRCh38:
Chr5:146339619
POU4F3not specifiedLikely benign
(Aug 13, 2014)
criteria provided, single submitter
4.
GRCh37:
Chr5:145719368
GRCh38:
Chr5:146339805
POU4F3not specifiedGMAF:0.00280(A)Benign
(May 7, 2012)
criteria provided, single submitter
5.
GRCh37:
Chr5:145719368
GRCh38:
Chr5:146339805
POU4F3not specifiedGMAF:0.00280(A)Likely benign
(Dec 10, 2013)
criteria provided, single submitter
6.
GRCh37:
Chr5:145719393
GRCh38:
Chr5:146339830
POU4F3not specifiedUncertain significance
(Apr 4, 2014)
criteria provided, single submitter
7.
GRCh37:
Chr5:145719480
GRCh38:
Chr5:146339917
POU4F3not specifiedUncertain significance
(May 31, 2013)
criteria provided, single submitter
8.
GRCh37:
Chr5:145719481
GRCh38:
Chr5:146339918
POU4F3not specifiedGMAF:0.00020(G)Uncertain significance
(Oct 5, 2013)
criteria provided, single submitter
9.
GRCh37:
Chr5:145719653
GRCh38:
Chr5:146340090
POU4F3not specifiedGMAF:0.00580(A)Benign
(May 7, 2012)
criteria provided, single submitter
10.
GRCh37:
Chr5:145719699
GRCh38:
Chr5:146340136
POU4F3not specifiedUncertain significance
(Jun 22, 2015)
criteria provided, single submitter
11.
GRCh37:
Chr5:145719782
GRCh38:
Chr5:146340219
POU4F3not specifiedLikely benign
(Apr 30, 2012)
criteria provided, single submitter
12.
GRCh37:
Chr5:145719827
GRCh38:
Chr5:146340264
POU4F3not specifiedGO-ESP:0.02222(T)
GMAF:0.02600(T)
Benign
(May 7, 2012)
criteria provided, single submitter
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