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Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL4A3, LOC129935730
(A24G)
Single nucleotide variant
(missense variant)
Kidney disorder
+3 more
GBenign/Likely benign
COL4A3, MFF-DT
(G157R)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
COL4A3, MFF-DT
(H451R)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign/Likely benign
COL4A3, MFF-DT
(T629M)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
COL4A3, MFF-DT
(I900T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
COL4A3, MFF-DT
(V923fs)
Deletion
(frameshift variant)
Autosomal recessive Alport syndrome
+1 more
GPathogenic
COL4A3, MFF-DT
(V950I)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
COL4A3, MFF-DT
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
COL4A3, MFF-DT
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
COL4A3, MFF-DT
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
COL4A3, MFF-DT
(G1277S)
Single nucleotide variant
(missense variant)
focal and segmental glomerulosclerosis
+7 more
GConflicting classifications of pathogenicity
COL4A3, MFF-DT
(R1432H)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
COL4A3, MFF-DT
(H1451D)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
COL4A3, MFF-DT
(L1474P)
Single nucleotide variant
(missense variant)
COL4A3-related condition
+7 more
GConflicting classifications of pathogenicity
COL4A3, MFF-DT
(A1482V)
Single nucleotide variant
(missense variant)
Kidney disorder
+4 more
GConflicting classifications of pathogenicity
MFF-DT, COL4A3
(F1504L)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
COL4A3, MFF-DT
(R1661C)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
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