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Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL4A5
(Y30C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
COL4A5
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
COL4A5
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
COL4A5
(I444S)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
+3 more
GBenign/Likely benign
COL4A5
(G615E)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
COL4A5
Single nucleotide variant
(synonymous variant)
X-linked Alport syndrome
+2 more
GBenign
COL4A5
(P739A)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
COL4A5
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
COL4A5
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
COL4A5
(G953V)
Single nucleotide variant
(missense variant)
COL4A5-related condition
+4 more
GConflicting classifications of pathogenicity
COL4A5
(K1008R)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
COL4A5
(P1050S)
Single nucleotide variant
(missense variant)
COL4A5-related condition
+3 more
GBenign/Likely benign
COL4A5
(S1099F)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
COL4A5
(G1176E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL4A5
(P1263S)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
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