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Items: 3

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr19:18980040
GRCh38:
Chr19:18869231
GDF1, CERS1Tetralogy of Fallot, not specifiedGMAF:0.00160(T)Conflicting interpretations of pathogenicity
(Jul 29, 2014)
criteria provided, conflicting interpretations
2.
GRCh37:
Chr19:18979725
GRCh38:
Chr19:18868916
GDF1, CERS1Double outlet right ventriclePathogenic
(Nov 1, 2007)
no assertion criteria provided
3.
GRCh37:
Chr19:18979844
GRCh38:
Chr19:18869035
GDF1, CERS1Bilateral right-sidedness sequence, Transposition of the great arteries, dextro-looped 3, Heterotaxy syndrome,
not provided
Pathogenic/Likely pathogenic
(Feb 7, 2017)
criteria provided, multiple submitters, no conflicts
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