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Items: 2

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:21889712
GRCh38:
Chr1:21563219
ALPLInfantile hypophosphatasiaUncertain significance
(May 4, 2017)
criteria provided, single submitter
2.
GRCh37:
Chr1:21889712
GRCh38:
Chr1:21563219
ALPLChildhood hypophosphatasia, Infantile hypophosphatasia, Hypophosphatasia
Pathogenic/Likely pathogenic
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
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