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Items: 4

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr4:6304014
GRCh38:
Chr4:6302287
WFS1WFS1-Related DisordersGO-ESP:0.00008(A)
GO-ESP:0.00001(A)
Pathogenic
(May 1, 2002)
no assertion criteria provided
2.
GRCh37:
Chr4:6303618
GRCh38:
Chr4:6301891
WFS1WFS1-Related Disorders, not specifiedConflicting interpretations of pathogenicity
(Oct 30, 2015)
criteria provided, conflicting interpretations
3.
GRCh37:
Chr4:6304008
GRCh38:
Chr4:6302281
WFS1WFS1-Related DisordersPathogenic
(Oct 15, 2001)
no assertion criteria provided
4.
GRCh37:
Chr4:6303668
GRCh38:
Chr4:6301941
WFS1Diabetes mellitus AND insipidus with optic atrophy AND deafness, WFS1-Related DisordersGO-ESP:0.00001(A)Pathogenic/Likely pathogenic
(Nov 25, 2013)
criteria provided, single submitter
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