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Items: 3

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr3:122003042-122003043
GRCh38:
Chr3:122284195-122284196
CASRNeonatal severe hyperparathyroidismPathogenic
(Dec 1, 1995)
no assertion criteria provided
2.
GRCh37:
Chr3:122002546
GRCh38:
Chr3:122283699
CASRHypocalciuric hypercalcemia, familial, type 1, Neonatal severe hyperparathyroidism, Hypocalcemia, autosomal dominant 1
Conflicting interpretations of pathogenicity
(Sep 27, 2016)
criteria provided, conflicting interpretations
3.
GRCh37:
Chr3:121980562
GRCh38:
Chr3:122261715
CASRNeonatal severe hyperparathyroidismPathogenic
(Feb 1, 2005)
no assertion criteria provided
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