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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL4A5
(S136G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
COL4A5
(R373*)
Single nucleotide variant
(nonsense)
COL4A5-related disorder
+2 more
GPathogenic
COL4A5
(I444S)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
+3 more
GBenign/Likely benign
COL4A5
(G509C)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
COL4A5
Single nucleotide variant
(synonymous variant)
X-linked Alport syndrome
+2 more
GBenign
COL4A5
Single nucleotide variant
(synonymous variant)
Kidney disorder
+2 more
GBenign
COL4A5
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
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