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Items: 7

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr20:52779282
GRCh38:
Chr20:54162743
CYP24A1Idiopathic hypercalcemia of infancyPathogenic
(Nov 3, 2011)
no assertion criteria provided
2.
GRCh37:
Chr20:52774635
GRCh38:
Chr20:54158096
CYP24A1Idiopathic hypercalcemia of infancyPathogenic
(Nov 3, 2011)
no assertion criteria provided
3.
GRCh37:
Chr20:52774675
GRCh38:
Chr20:54158136
CYP24A1Idiopathic hypercalcemia of infancy, Muscle crampsPathogenic
(Jul 1, 2015)
criteria provided, single submitter
4.
GRCh37:
Chr20:52788208
GRCh38:
Chr20:54171669
CYP24A1Idiopathic hypercalcemia of infancyPathogenic
(Aug 4, 2011)
no assertion criteria provided
5.
GRCh37:
Chr20:52789467-52789469
GRCh38:
Chr20:54172928-54172930
CYP24A1Idiopathic hypercalcemia of infancy, Infantile hypercalcemiaPathogenic
(Jun 14, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr20:52788183
GRCh38:
Chr20:54171644
CYP24A1Idiopathic hypercalcemia of infancyPathogenic
(Nov 3, 2011)
no assertion criteria provided
7.
GRCh37:
Chr20:52773934-52773935
GRCh38:
Chr20:54157395-54157396
CYP24A1Idiopathic hypercalcemia of infancyPathogenic
(Aug 4, 2011)
no assertion criteria provided
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