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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL4A3, MFF-DT
(G300R)
Single nucleotide variant
(missense variant)
Alport syndrome
+4 more
GPathogenic/Likely pathogenic
COL4A3, MFF-DT
(G665fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
COL4A3, MFF-DT
(G695R)
Single nucleotide variant
(missense variant)
COL4A3-related disorder
+6 more
GPathogenic/Likely pathogenic
COL4A3, MFF-DT
(G833D)
Single nucleotide variant
(missense variant)
Benign familial hematuria
GConflicting classifications of pathogenicity
COL4A3, MFF-DT
(L1474P)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
COL4A3, MFF-DT
(R1516*)
Single nucleotide variant
(nonsense)
Autosomal dominant Alport syndrome
+3 more
GPathogenic/Likely pathogenic
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