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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL4A3, MFF-DT
(V92I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
COL4A3, MFF-DT
(P272S)
Single nucleotide variant
(missense variant)
Autosomal recessive Alport syndrome
+1 more
GUncertain significance
COL4A3, MFF-DT
(G1024V)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
GUncertain significance
COL4A3, MFF-DT
(G1158R)
Single nucleotide variant
(missense variant)
Autosomal recessive Alport syndrome
+2 more
GConflicting classifications of pathogenicity
COL4A3, MFF-DT
(R1215Q)
Single nucleotide variant
(missense variant)
Autosomal recessive Alport syndrome
+3 more
GConflicting classifications of pathogenicity
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