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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL4A4
(G1163V)
Single nucleotide variant
(missense variant)
Alport syndrome
+1 more
GConflicting classifications of pathogenicity
COL4A4
(A880fs)
Deletion
(frameshift variant)
COL4A4-related disorder
+5 more
GPathogenic
COL4A4
(G527fs)
Deletion
(frameshift variant)
Alport syndrome
GLikely pathogenic
COL4A4
(P416A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
COL4A4
Single nucleotide variant
(synonymous variant)
Microscopic hematuria
+3 more
GUncertain significance
COL4A4
(G285E)
Single nucleotide variant
(missense variant)
Glomerulonephritis
+1 more
GConflicting classifications of pathogenicity
COL4A4
(P263R)
Single nucleotide variant
(missense variant)
Glomerulonephritis
+1 more
GConflicting classifications of pathogenicity
COL4A4
(G143V)
Single nucleotide variant
(missense variant)
Autosomal recessive Alport syndrome
+2 more
GConflicting classifications of pathogenicity
COL4A4
Deletion
(inframe_deletion)
Autosomal recessive Alport syndrome
+3 more
GConflicting classifications of pathogenicity
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