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Items: 85

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL4A4, LOC126806538
+1 more
(P294H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL4A4, LOC126806538
+1 more
(M304V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL4A4
(T1653I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
COL4A4
(W1651*)
Single nucleotide variant
(nonsense)
Autosomal recessive Alport syndrome
+4 more
GPathogenic/Likely pathogenic
COL4A4
(S1594R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
COL4A4
(C1588S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely pathogenic
COL4A4
(Q1574K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
COL4A4
(P1572L)
Single nucleotide variant
(missense variant)
Alport syndrome
+4 more
GConflicting classifications of pathogenicity
COL4A4
(R1565C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
COL4A4
(R1560C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
COL4A4
(A1546T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
COL4A4
(N1537S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
COL4A4
(P1478S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
COL4A4
(P1460S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
COL4A4
(I1450T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
COL4A4
Deletion
(intron variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
COL4A4
(S1425P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
COL4A4
(P1411R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
COL4A4
(T1357I)
Single nucleotide variant
(missense variant)
Autosomal recessive Alport syndrome
+1 more
GUncertain significance
COL4A4
(Q1323*)
Single nucleotide variant
(nonsense)
Autosomal recessive Alport syndrome
+3 more
GPathogenic/Likely pathogenic
COL4A4
(P1305L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
COL4A4
(G1304fs)
Deletion
(frameshift variant)
Inborn genetic diseases
GPathogenic
COL4A4
(P1303S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
COL4A4
(P1277S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
COL4A4
(G1273R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
COL4A4
(P1268S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
COL4A4
(P1257S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
COL4A4
(P1241L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
COL4A4
(K1186R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
COL4A4
(D1149E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
COL4A4
(G1136A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
COL4A4
(S1102T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
COL4A4
(P1056L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
COL4A4
(F1040L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
COL4A4
(G1036C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
COL4A4
(G1030fs)
Duplication
(frameshift variant)
Inborn genetic diseases
GPathogenic
COL4A4
(P1029S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
COL4A4
(H1013Y)
Single nucleotide variant
(missense variant)
Autosomal recessive Alport syndrome
+3 more
GUncertain significance
COL4A4
(R1006S)
Single nucleotide variant
(missense variant)
Autosomal recessive Alport syndrome
+3 more
GConflicting classifications of pathogenicity
COL4A4
(P977A)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
COL4A4
(G954R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
COL4A4
(G930S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
COL4A4
(E926G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
COL4A4
(G918R)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
COL4A4
(P890A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
COL4A4
(P884L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
COL4A4
(P883A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
COL4A4
(A880G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
COL4A4
(P839L)
Single nucleotide variant
(missense variant)
Benign familial hematuria
+4 more
GConflicting classifications of pathogenicity
COL4A4
(G816E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
COL4A4
(R811T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
COL4A4
(G804S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
COL4A4
(P796S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
COL4A4
(A793V)
Single nucleotide variant
(missense variant)
Alport syndrome
+2 more
GUncertain significance
COL4A4
(G731V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
COL4A4
(G657V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
COL4A4
(R641Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
COL4A4
(P637S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
COL4A4
(G602E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
COL4A4
(D558N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
COL4A4
(K556N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
COL4A4
(L523F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
COL4A4
(G426R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
COL4A4
(P416A)
Single nucleotide variant
(missense variant)
Glomerulonephritis
+4 more
GConflicting classifications of pathogenicity
COL4A4
(G402D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
COL4A4
(P352L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
COL4A4
(P307T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
COL4A4
(E292G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
COL4A4
(K290*)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
GPathogenic
COL4A4
(V281F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
COL4A4
(Y268C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
COL4A4
(G243E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
COL4A4
(V238A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
COL4A4
(N233I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
COL4A4
(V182I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
COL4A4
(E168fs)
Deletion
(frameshift variant)
Inborn genetic diseases
GPathogenic
COL4A4
(H165L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
COL4A4
(G137D)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
COL4A4
Single nucleotide variant
(splice donor variant)
Inborn genetic diseases
GUncertain significance
COL4A4
(G113D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
COL4A4
(P111L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
COL4A4
(D105N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
COL4A4
(R97H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
COL4A4
(V54G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
COL4A4
Deletion
(inframe_deletion)
not provided
+4 more
GConflicting classifications of pathogenicity
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