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ClinVar for PubMed (Select 19346217)

Items: 2

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr2:45169352
GRCh38:
Chr2:44942213
SIX3Holoprosencephaly 2, Single upper central incisor, Schizencephaly,
not specified
GO-ESP:0.00188(T)
GMAF:0.00040(T)
Conflicting interpretations of pathogenicity
(Mar 31, 2015)
criteria provided, conflicting interpretations
2.
GRCh37:
Chr2:45169628
GRCh38:
Chr2:44942489
SIX3Holoprosencephaly 2, SchizencephalyPathogenic
(Sep 28, 2011)
no assertion criteria provided