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Items: 3

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr16:88898473
GRCh38:
Chr16:88832065
GALNSMucopolysaccharidosis, MPS-IV-AGO-ESP:0.00001(C)Pathogenic
(Jul 11, 2013)
no assertion criteria provided
2.
GRCh37:
Chr16:88901620
GRCh38:
Chr16:88835212
GALNSMucopolysaccharidosis, MPS-IV-APathogenic
(Mar 24, 2016)
no assertion criteria provided
3.
GRCh37:
Chr16:88907485
GRCh38:
Chr16:88841077
GALNSMucopolysaccharidosis, MPS-IV-A, Mucopolysaccharidosis, Type IVGO-ESP:0.00008(A)
GO-ESP:0.00002(A)
Pathogenic
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
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