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Items: 2

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr9:137642654
GRCh38:
Chr9:134750808
COL5A1Ehlers-Danlos syndrome, type 2, Ehlers-Danlos syndrome, classic type, Ehlers-Danlos syndrome, type 7A,
not specified
GO-ESP:0.03160(A)
GMAF:0.02360(A)
GO-ESP:0.03574(A)
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
2.
GRCh37:
Chr9:137716663
GRCh38:
Chr9:134824817
COL5A1, LOC101448202Ehlers-Danlos syndrome, type 2, Ehlers-Danlos syndrome, classic typePathogenic
(Aug 18, 2011)
no assertion criteria provided
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