GET-Evidence: Search

VariantImpactInheritance patternSummaryGenomes
COL4A5 G54Dinsufficiently evaluated pathogenicunknown

(8 web hits)

COL4A5 C108Sinsufficiently evaluated pathogenicunknown

(1 web hit)

COL4A5 V253Iinsufficiently evaluated not reviewedunknown
COL4A5 G325Einsufficiently evaluated pathogenicunknown

(10 web hits)

COL4A5 G325Rinsufficiently evaluated pathogenicunknown

(12 web hits)

COL4A5 P396Linsufficiently evaluated not reviewed, f=0.000unknown
COL4A5 I444Sinsufficiently evaluated none, f=0.122unknown

(11 web hits)

var-GS19700-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
var-GS19703-1100-36-ASM (hom)
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM (hom)
CGI sample GS00253-DNA_B02_200_37 (hom)
COL4A5 G521Cinsufficiently evaluated pathogenicunknown

(12 web hits)

COL4A5 P739Ainsufficiently evaluated noneunknown

(3 web hits)

COL4A5 G953Vinsufficiently evaluated pathogenic, f=0.000recessive

This X-linked variant was seen in a one patient (out of 131 screened) with Alport Syndrome, where it was seen on the same allele as an additional nonsynonymous variant in the same gene. Other variants in this gene are known to cause this disease.

(11 web hits)

COL4A5 G1143Dinsufficiently evaluated pathogenicunknown

(11 web hits)

COL4A5 P1213Linsufficiently evaluated not reviewed, f=0.011unknown var-GS18942-1100-36-ASM
COL4A5 T1427Iinsufficiently evaluated noneunknown
COL4A5 Y1597Hinsufficiently evaluated not reviewedunknown
COL4A5 Y1600Hinsufficiently evaluated not reviewedunknown
COL4A5 L1649Rinsufficiently evaluated pathogenicunknown

(33 web hits)

COL4A5 R1677Qinsufficiently evaluated pathogenicunknown

(50 web hits)

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Total results: 17

Gene search

"GENE" or "GENE A123C":

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