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Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL4A3, MFF-DT
(R229Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL4A3, MFF-DT
(G300R)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
COL4A3, MFF-DT
(R406Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
COL4A3, MFF-DT
(G458R)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
COL4A3, MFF-DT
(G484R)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
+3 more
GConflicting classifications of pathogenicity
COL4A3, MFF-DT
(G578R)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
COL4A3, MFF-DT
(G695R)
Single nucleotide variant
(missense variant)
not specified
+5 more
GPathogenic/Likely pathogenic
COL4A3, MFF-DT
(P879L)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
COL4A3, MFF-DT
(V950I)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
COL4A3, MFF-DT
(S1147F)
Single nucleotide variant
(missense variant)
COL4A3-related disorder
+3 more
GUncertain significance
COL4A3, MFF-DT
(A1252V)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
+4 more
GUncertain significance
COL4A3, MFF-DT
(R1293H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL4A3, MFF-DT
(R1345H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL4A3, MFF-DT
(L1474P)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
MFF-DT, COL4A3
(A1482V)
Single nucleotide variant
(missense variant)
Kidney disorder
+3 more
GConflicting classifications of pathogenicity
MFF-DT, COL4A3
(R1661C)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
+6 more
GPathogenic/Likely pathogenic
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