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Items: 17

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr3:12526377
GRCh38:
Chr3:12484878
TSEN2Pontoneocerebellar hypoplasia, not specifiedConflicting interpretations of pathogenicity
(Oct 20, 2016)
criteria provided, conflicting interpretations
2.
GRCh37:
Chr3:12531365
GRCh38:
Chr3:12489866
TSEN2Pontocerebellar hypoplasia type 2B, not specifiedConflicting interpretations of pathogenicity
(Aug 2, 2016)
criteria provided, conflicting interpretations
3.
GRCh37:
Chr3:12531407
GRCh38:
Chr3:12489908
TSEN2not specifiedBenign
(Apr 6, 2016)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr3:12531421
GRCh38:
Chr3:12489922
TSEN2Pontoneocerebellar hypoplasia, not specifiedBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr3:12531461
GRCh38:
Chr3:12489962
TSEN2Pontoneocerebellar hypoplasia, not specifiedBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr3:12544779
GRCh38:
Chr3:12503280
TSEN2Pontoneocerebellar hypoplasia, not specifiedBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr3:12544829
GRCh38:
Chr3:12503330
TSEN2Pontoneocerebellar hypoplasia, not specifiedBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr3:12545012
GRCh38:
Chr3:12503513
TSEN2Pontoneocerebellar hypoplasia, not specifiedConflicting interpretations of pathogenicity
(Mar 17, 2017)
criteria provided, conflicting interpretations
9.
GRCh37:
Chr3:12545079
GRCh38:
Chr3:12503580
TSEN2not specifiedLikely benign
(Jan 19, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr3:12545091
GRCh38:
Chr3:12503592
TSEN2Pontoneocerebellar hypoplasia, not specifiedBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr3:12546725
GRCh38:
Chr3:12505226
TSEN2not specifiedUncertain significance
(Jun 13, 2017)
criteria provided, single submitter
12.
GRCh37:
Chr3:12546745
GRCh38:
Chr3:12505246
TSEN2not specifiedLikely benign
(Feb 27, 2017)
criteria provided, single submitter
13.
GRCh37:
Chr3:12560560
GRCh38:
Chr3:12519061
TSEN2Pontoneocerebellar hypoplasia, not specifiedBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr3:12560568
GRCh38:
Chr3:12519069
TSEN2not specifiedUncertain significance
(Feb 2, 2017)
criteria provided, single submitter
15.
GRCh37:
Chr3:12573152
GRCh38:
Chr3:12531653
TSEN2Pontoneocerebellar hypoplasia, not specifiedConflicting interpretations of pathogenicity
(Mar 16, 2017)
criteria provided, conflicting interpretations
16.
GRCh37:
Chr3:12574172
GRCh38:
Chr3:12532673
TSEN2Pontoneocerebellar hypoplasia, not specifiedBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr3:105526-19552092
GRCh38:
Chr3:63843-19510600
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
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