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Links from MedGen

Items: 1 to 100 of 939

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL4A4
Deletion
(splice acceptor variant +1 more)
Autosomal recessive Alport syndrome
GPathogenic
COL4A4
(G663S)
Single nucleotide variant
(missense variant)
Autosomal recessive Alport syndrome
GPathogenic
COL4A4
(D1256E)
Single nucleotide variant
(missense variant)
Autosomal recessive Alport syndrome
GUncertain significance
COL4A4
(G1398R)
Single nucleotide variant
(missense variant)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A4
(D1158fs)
Duplication
(frameshift variant)
Autosomal recessive Alport syndrome
GPathogenic
COL4A4
Single nucleotide variant
(intron variant)
Autosomal recessive Alport syndrome
GUncertain significance
COL4A4
(G900C)
Single nucleotide variant
(missense variant)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A4
(G1088S)
Single nucleotide variant
(missense variant)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A4
(G870S)
Single nucleotide variant
(missense variant)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A4
(G414R)
Single nucleotide variant
(missense variant)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A4
(G506E)
Single nucleotide variant
(missense variant)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A4
(G1279V)
Single nucleotide variant
(missense variant)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A4
(G226R)
Single nucleotide variant
(missense variant)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A4
(G1187A)
Single nucleotide variant
(missense variant)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A4
(P502fs)
Deletion
(frameshift variant)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A4
(G539R)
Single nucleotide variant
(missense variant)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A4
(G587C)
Single nucleotide variant
(missense variant)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A4
(G49*)
Single nucleotide variant
(nonsense)
Autosomal recessive Alport syndrome
GPathogenic
COL4A4
(W1542*)
Single nucleotide variant
(nonsense)
Autosomal recessive Alport syndrome
GPathogenic
COL4A4
(V1576A)
Single nucleotide variant
(missense variant)
Autosomal recessive Alport syndrome
GUncertain significance
COL4A4
Deletion
(inframe_deletion)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A4
(F1466fs)
Duplication
(frameshift variant)
Autosomal recessive Alport syndrome
GPathogenic
COL4A4
Single nucleotide variant
(splice donor variant)
Autosomal recessive Alport syndrome
GPathogenic
COL4A4
Deletion
(splice acceptor variant)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A4
(P720Q)
Single nucleotide variant
(missense variant)
Autosomal recessive Alport syndrome
GUncertain significance
COL4A4
(G692S)
Single nucleotide variant
(missense variant)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A4
(G1427R)
Single nucleotide variant
(missense variant)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A4
(V1197*)
Duplication
(nonsense)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A4
Deletion
(frameshift variant)
Autosomal recessive Alport syndrome
GUncertain significance
COL4A4
Deletion
(splice donor variant)
Autosomal recessive Alport syndrome
GUncertain significance
COL4A4
(D191fs)
Microsatellite
(frameshift variant)
Autosomal recessive Alport syndrome
GPathogenic
COL4A4
Deletion
(inframe_deletion)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A4
(G1088V)
Single nucleotide variant
(missense variant)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A4
(C1641R)
Single nucleotide variant
(missense variant)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
(G219D)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
+1 more
GLikely pathogenic
COL4A3, MFF-DT
(G922R)
Single nucleotide variant
(missense variant)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A4
(G252A)
Single nucleotide variant
(missense variant)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A4
(G314C)
Single nucleotide variant
(missense variant)
Benign familial hematuria
+1 more
GLikely pathogenic
COL4A3, MFF-DT
Deletion
(inframe_deletion)
Autosomal dominant Alport syndrome
+1 more
GUncertain significance
COL4A4
(G731D)
Single nucleotide variant
(missense variant)
COL4A4-related disorder
+1 more
GLikely pathogenic
COL4A4
(D961fs)
Duplication
(frameshift variant)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
(R1516Q)
Single nucleotide variant
(missense variant)
Benign familial hematuria
+1 more
GUncertain significance
COL4A4
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive Alport syndrome
GPathogenic
COL4A3, MFF-DT
(G384R)
Single nucleotide variant
(missense variant)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
(G1143R)
Single nucleotide variant
(missense variant)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
(G686D)
Single nucleotide variant
(missense variant)
Autosomal recessive Alport syndrome
GUncertain significance
COL4A3, MFF-DT
(G366E)
Single nucleotide variant
(missense variant)
Autosomal recessive Alport syndrome
GPathogenic
COL4A3, MFF-DT
(G827E)
Single nucleotide variant
(missense variant)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A4
(C47fs)
Deletion
(frameshift variant)
Autosomal recessive Alport syndrome
GPathogenic
COL4A4
(G951R)
Single nucleotide variant
(missense variant)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
(G1071A)
Single nucleotide variant
(missense variant)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A4
(K556E)
Single nucleotide variant
(missense variant)
Autosomal recessive Alport syndrome
GUncertain significance
COL4A3, MFF-DT
(C1604*)
Single nucleotide variant
(nonsense)
Autosomal recessive Alport syndrome
GPathogenic
COL4A4
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
COL4A3, MFF-DT
(P272S)
Single nucleotide variant
(missense variant)
Autosomal recessive Alport syndrome
+1 more
GUncertain significance
COL4A4
(G719R)
Single nucleotide variant
(missense variant)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A4
(P1360L)
Single nucleotide variant
(missense variant)
Autosomal recessive Alport syndrome
GUncertain significance
COL4A3, MFF-DT
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A4
(G930S)
Single nucleotide variant
(missense variant)
Autosomal recessive Alport syndrome
+1 more
GConflicting classifications of pathogenicity
COL4A4
Insertion
(intron variant)
not provided
+2 more
GLikely benign
COL4A4
Deletion
(splice donor variant)
Autosomal recessive Alport syndrome
GPathogenic
COL4A3, MFF-DT
(G955V)
Single nucleotide variant
(missense variant)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
(G853A)
Single nucleotide variant
(missense variant)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A4
(G299R)
Single nucleotide variant
(missense variant)
Autosomal recessive Alport syndrome
+1 more
GConflicting classifications of pathogenicity
COL4A4
(G1424fs)
Deletion
(frameshift variant)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A4
(P467fs)
Deletion
(frameshift variant)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A4
(P583fs)
Deletion
(frameshift variant)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A4
(G733*)
Single nucleotide variant
(nonsense)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A4
(L26fs)
Deletion
(frameshift variant)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
(I1545fs)
Microsatellite
(frameshift variant)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A4
(G1094fs)
Deletion
(frameshift variant)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A4
(L163fs)
Duplication
(frameshift variant)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A4
(H1013fs)
Microsatellite
(frameshift variant)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
(P1335fs)
Deletion
(frameshift variant)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
(P454fs)
Deletion
(frameshift variant)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A4
(C57*)
Single nucleotide variant
(nonsense)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A4
(G214*)
Single nucleotide variant
(nonsense)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
(K984*)
Single nucleotide variant
(nonsense)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A4
(H766fs)
Deletion
(frameshift variant)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A4
(S1403*)
Single nucleotide variant
(nonsense)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
(Q627fs)
Deletion
(frameshift variant)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
Insertion
(nonsense +1 more)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
(R503*)
Single nucleotide variant
(nonsense)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
(G1433fs)
Deletion
(frameshift variant)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
(S102fs)
Duplication
(frameshift variant)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A4
(G243*)
Single nucleotide variant
(nonsense)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
(E1542fs)
Deletion
(frameshift variant)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
(G1110fs)
Deletion
(frameshift variant)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A4
(L618fs)
Duplication
(frameshift variant)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A4
(E1003fs)
Duplication
(frameshift variant)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A4
(D603fs)
Deletion
(frameshift variant)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
(E269fs)
Duplication
(frameshift variant)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A4
(D1065fs)
Deletion
(frameshift variant)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A4
(Q1156fs)
Duplication
(frameshift variant)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
(G1216fs)
Deletion
(frameshift variant)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A4
(P892fs)
Insertion
(frameshift variant)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A4
(S738fs)
Indel
(frameshift variant)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
(V32fs)
Microsatellite
(frameshift variant)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
(G1436fs)
Deletion
(frameshift variant)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A4
(G1082fs)
Indel
(frameshift variant)
Autosomal recessive Alport syndrome
GLikely pathogenic
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