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Items: 50

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL4A3, MFF-DT
(C41*)
Indel
(nonsense)
Autosomal dominant Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
Single nucleotide variant
(splice donor variant)
Autosomal dominant Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
(G106V)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
(C125G)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
GUncertain significance
COL4A3, MFF-DT
Deletion
(inframe_deletion)
Autosomal dominant Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
Insertion
(splice donor variant)
Autosomal dominant Alport syndrome
GUncertain significance
COL4A3, MFF-DT
(G219C)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
(G219D)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
+1 more
GLikely pathogenic
COL4A3, MFF-DT
(G233V)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
Deletion
(splice donor variant)
Autosomal dominant Alport syndrome
GPathogenic
COL4A3, MFF-DT
Single nucleotide variant
(splice acceptor variant)
Autosomal dominant Alport syndrome
GPathogenic
COL4A3, MFF-DT
(G339A)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
Single nucleotide variant
(intron variant)
Autosomal dominant Alport syndrome
GUncertain significance
COL4A3, MFF-DT
(G424V)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
(G458V)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
(G467R)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
Single nucleotide variant
(intron variant)
Autosomal dominant Alport syndrome
GUncertain significance
COL4A3, MFF-DT
(G566D)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
(G614E)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
Single nucleotide variant
(intron variant)
Autosomal dominant Alport syndrome
GUncertain significance
COL4A3, MFF-DT
(G698R)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
GUncertain significance
COL4A3, MFF-DT
(G768R)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
GPathogenic
COL4A3, MFF-DT
(G795E)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
(P797fs)
Deletion
(frameshift variant)
Autosomal dominant Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
(G868V)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
Single nucleotide variant
(splice acceptor variant)
Autosomal dominant Alport syndrome
GPathogenic
COL4A3, MFF-DT
(G889V)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
(G898E)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
Single nucleotide variant
(splice donor variant)
Autosomal dominant Alport syndrome
GPathogenic
COL4A3, MFF-DT
(G955E)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
(T1070A)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
GUncertain significance
COL4A3, MFF-DT
(G1092E)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
(P1109fs)
Duplication
(frameshift variant)
Autosomal dominant Alport syndrome
GPathogenic
COL4A3, MFF-DT
(G1128D)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
(G1140R)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
(G1152S)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
(G1180D)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
(G1248R)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
(G1301D)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
(G1307S)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
(G1316V)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
(G1322C)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
(R1345G)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
GUncertain significance
COL4A3, MFF-DT
(G1370R)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
(G1400E)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
(G1418R)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
(G1430E)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
(Q1453*)
Single nucleotide variant
(nonsense)
Autosomal dominant Alport syndrome
GPathogenic
COL4A3, MFF-DT
(G1653E)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
GUncertain significance
COL4A3, MFF-DT
(H1670fs)
Deletion
(frameshift variant)
Autosomal dominant Alport syndrome
GPathogenic
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