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Items: 11

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr2:203420968
GRCh38:
Chr2:202556245
BMPR2Primary pulmonary hypertensionPathogenicno assertion criteria provided
2.
GRCh37:
Chr2:203395650-203395654
GRCh38:
Chr2:202530927-202530931
BMPR2Primary pulmonary hypertensionPathogenicno assertion criteria provided
3.
GRCh37:
Chr2:203383613-203383614
GRCh38:
Chr2:202518890-202518891
BMPR2Primary pulmonary hypertensionPathogenicno assertion criteria provided
4.
GRCh37:
Chr2:203378530-203378533
GRCh38:
Chr2:202513807-202513810
BMPR2Primary pulmonary hypertensionPathogenicno assertion criteria provided
5.
BMPR2Primary pulmonary hypertensionPathogenic
(Sep 1, 2000)
no assertion criteria provided
6.
GRCh37:
Chr2:203417497
GRCh38:
Chr2:202552774
BMPR2Primary pulmonary hypertension, not specifiedPathogenic
(Oct 24, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr2:203421005
GRCh38:
Chr2:202556282
BMPR2Primary pulmonary hypertensionPathogenic
(Sep 1, 2000)
no assertion criteria provided
8.
GRCh37:
Chr2:203378530
GRCh38:
Chr2:202513807
BMPR2Primary pulmonary hypertensionPathogenic
(Sep 1, 2000)
no assertion criteria provided
9.
BMPR2Primary pulmonary hypertensionPathogenic
(Sep 1, 2000)
no assertion criteria provided
10.
GRCh37:
Chr2:203417496
GRCh38:
Chr2:202552773
BMPR2Primary pulmonary hypertension, not providedPathogenic
(Jul 11, 2016)
criteria provided, single submitter
11.
BMPR2Primary pulmonary hypertensionPathogenic
(Sep 1, 2000)
no assertion criteria provided
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