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ClinVar for PubMed (Select 17096318)

Items: 2

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr2:121736076
GRCh38:
Chr2:120978500
GLI2Holoprosencephaly 9Pathogenic
(Sep 17, 2013)
no assertion criteria provided
2.
GRCh37:
Chr9:98231100
GRCh38:
Chr9:95468818
PTCH1, LOC100507346Holoprosencephaly 7, not specified, not provided
GO-ESP:0.00738(A)
GMAF:0.00540(A)
Conflicting interpretations of pathogenicity, not provided
(Jul 8, 2013)
criteria provided, conflicting interpretations