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Results: 3

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr13:110839639-110839640
GRCh38:
Chr13:110187292-110187293
COL4A1Angiopathy, hereditary, with nephropathy, aneurysms, and muscle crampsPathogenic
(Dec 19, 2012)
no assertion criteria provided
2.
GRCh37:
Chr13:110844569
GRCh38:
Chr13:110192222
COL4A1Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, Retinal arteries, tortuosity ofPathogenic
(May 14, 2015)
no assertion criteria provided
3.
GRCh37:
Chr13:110844605
GRCh38:
Chr13:110192258
COL4A1Angiopathy, hereditary, with nephropathy, aneurysms, and muscle crampsPathogenic
(Dec 19, 2012)
no assertion criteria provided

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