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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL4A5
(G141S)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(G509R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
COL4A5
(G763E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
COL4A5
(G869R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
COL4A5
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic
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