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Items: 5

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr6:132181528
GRCh38:
Chr6:131860388
ENPP1Arterial calcification of infancy, Hypophosphatemic rickets, autosomal recessive, 2Pathogenic
(Feb 12, 2010)
no assertion criteria provided
2.
GRCh37:
Chr6:132198145
GRCh38:
Chr6:131877005
ENPP1Arterial calcification of infancyGO-ESP:0.00001(C)Pathogenic
(Aug 1, 2003)
no assertion criteria provided
3.
ENPP1Arterial calcification of infancyPathogenic
(Aug 1, 2003)
no assertion criteria provided
4.
GRCh37:
Chr6:132206079
GRCh38:
Chr6:131884939
ENPP1Arterial calcification of infancy, not specified, Hypophosphatemic Rickets, Recessive
GO-ESP:0.02645(T)
GMAF:0.01880(T)
GO-ESP:0.03319(T)
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
5.
GRCh37:
Chr6:132211550
GRCh38:
Chr6:131890410
ENPP1Arterial calcification of infancyPathogenic
(Aug 1, 2003)
no assertion criteria provided
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