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Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL4A4
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GUncertain significance
COL4A4
(F1650L)
Single nucleotide variant
(missense variant)
Benign familial hematuria
+2 more
GUncertain significance
COL4A4
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
COL4A4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
COL4A4
(E988G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL4A4
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
COL4A4
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign/Likely benign
COL4A4
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
COL4A4
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GBenign/Likely benign
COL4A4
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
COL4A4
(G545A)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign
COL4A4
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
COL4A4
(P409S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL4A4
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
COL4A4
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
COL4A4
Single nucleotide variant
(synonymous variant)
Alport syndrome
+2 more
GConflicting classifications of pathogenicity
COL4A4
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
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