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Results: 11

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr7:142458412
GRCh38:
Chr7:142750561
PRSS1, TRBHereditary pancreatitisPathogenic
(Mar 13, 2014)
no assertion criteria provided
2.
GRCh37:
Chr7:142458428-142458436
GRCh38:
Chr7:142750577-142750585
PRSS1, TRBHereditary pancreatitisPathogenic
(Mar 1, 2012)
no assertion criteria provided
3.
GRCh37:
Chr7:142458430
GRCh38:
Chr7:142750579
PRSS1, TRBHereditary pancreatitisPathogenic
(Mar 1, 2012)
no assertion criteria provided
4.
GRCh37:
Chr7:142458433
GRCh38:
Chr7:142750582
PRSS1, TRBHereditary pancreatitisPathogenic
(Oct 4, 2013)
no assertion criteria provided
5.
GRCh37:
Chr7:142458451
GRCh38:
Chr7:142750600
PRSS1, TRBHereditary pancreatitisPathogenic
(Mar 1, 2012)
no assertion criteria provided
6.
GRCh37:
Chr7:142458451
GRCh38:
Chr7:142750600
PRSS1, TRBHereditary pancreatitisPathogenic
(Mar 13, 2014)
criteria provided, single submitter
7.
GRCh37:
Chr7:142458481
GRCh38:
Chr7:142750630
PRSS1, TRBHereditary pancreatitisPathogenic
(Mar 13, 2014)
no assertion criteria provided
8.
GRCh37:
Chr7:142459770
GRCh38:
Chr7:142751919
PRSS1, TRBHereditary pancreatitisPathogenic
(Oct 4, 2013)
no assertion criteria provided
9.
GRCh37:
Chr7:142459788
GRCh38:
Chr7:142751937
PRSS1, TRBHereditary pancreatitisGO-ESP:0.00015(T)Pathogenic
(Mar 13, 2014)
no assertion criteria provided
10.
GRCh37:
Chr7:142459789
GRCh38:
Chr7:142751938
PRSS1, TRBHereditary pancreatitisPathogenic
(Mar 13, 2014)
criteria provided, single submitter
11.
GRCh37:
Chr7:142459839
GRCh38:
Chr7:142751988
PRSS1, TRBHereditary pancreatitisPathogenic
(Mar 1, 2012)
no assertion criteria provided

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