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Items: 1 to 100 of 195

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
WDR73
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
WDR73
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
WDR73
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
WDR73
(R378H)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
WDR73
(R378fs)
Duplication
(frameshift variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
WDR73
(R378S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
WDR73
(R378C)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
WDR73
(R378fs)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
WDR73
(P377L)
Single nucleotide variant
(missense variant +1 more)
Galloway-Mowat syndrome 1
+1 more
GUncertain significance
WDR73
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
WDR73
(A376G)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
WDR73
(A376T)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
WDR73
(A376S)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
WDR73
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
WDR73
(W369*)
Single nucleotide variant
(nonsense +1 more)
Galloway-Mowat syndrome 1
GUncertain significance
WDR73
(L366fs)
Microsatellite
(frameshift variant +1 more)
Galloway-Mowat syndrome 1
GLikely pathogenic
WDR73
(L366P)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
WDR73
(A364T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
WDR73
(L358S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
WDR73
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
WDR73
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
WDR73
(W349*)
Single nucleotide variant
(nonsense +1 more)
not provided
GLikely pathogenic
WDR73
(H347Y)
Single nucleotide variant
(missense variant +1 more)
Galloway-Mowat syndrome 1
GPathogenic
WDR73
Single nucleotide variant
(synonymous variant +1 more)
WDR73-related disorder
GLikely benign
WDR73
(P340T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
WDR73
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
WDR73
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
WDR73
(D334G)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign
WDR73
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
WDR73
(H330R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
WDR73
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
WDR73
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
WDR73
Microsatellite
(inframe_insertion +1 more)
not provided
+1 more
GUncertain significance
WDR73
Microsatellite
(inframe_deletion +1 more)
Galloway-Mowat syndrome 1
+1 more
GBenign
WDR73
(S319R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
WDR73
(S319N)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
WDR73
(R318W)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
WDR73
(G316A)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
WDR73
(Q314*)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
WDR73
(R312Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GConflicting classifications of pathogenicity
WDR73
(R312W)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GUncertain significance
WDR73
(G310*)
Single nucleotide variant
(nonsense +1 more)
Galloway-Mowat syndrome 1
GUncertain significance
WDR73
(G310R)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
WDR73
(T306A)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
WDR73
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
WDR73
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
WDR73
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
WDR73
(F296fs)
Deletion
(frameshift variant +1 more)
not provided
+2 more
GPathogenic
WDR73
(G295D)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
WDR73
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
WDR73
Single nucleotide variant
(intron variant)
not provided
GLikely benign
WDR73
Single nucleotide variant
(intron variant)
not provided
GBenign
WDR73
Single nucleotide variant
(intron variant)
not provided
GBenign
WDR73
Single nucleotide variant
(intron variant)
not provided
GLikely benign
WDR73
Single nucleotide variant
(intron variant)
not provided
GLikely benign
WDR73
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
WDR73
(A292V)
Single nucleotide variant
(missense variant +1 more)
Galloway-Mowat syndrome 1
GUncertain significance
WDR73
(L291S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
WDR73
(L291*)
Single nucleotide variant
(nonsense +1 more)
not provided
GLikely pathogenic
WDR73
(G286V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
WDR73
(W283G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
WDR73
(R280*)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
WDR73
Single nucleotide variant
(synonymous variant +1 more)
WDR73-related disorder
GLikely benign
WDR73
Single nucleotide variant
(synonymous variant +1 more)
Galloway-Mowat syndrome 1
+1 more
GLikely benign
WDR73
(P272T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
WDR73
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
WDR73
(V262L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
WDR73
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
WDR73
(R256Q)
Single nucleotide variant
(missense variant +1 more)
Galloway-Mowat syndrome 1
GLikely pathogenic
WDR73
(R256fs)
Duplication
(frameshift variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
WDR73
(R256W)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
WDR73
(C251fs)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
WDR73
(R249H)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
WDR73
(R249C)
Single nucleotide variant
(missense variant +1 more)
Galloway-Mowat syndrome 1
GUncertain significance
WDR73
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
WDR73
(L244P)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
WDR73
(S240fs)
Duplication
(frameshift variant +1 more)
not provided
+1 more
GPathogenic
WDR73
Single nucleotide variant
(synonymous variant +1 more)
WDR73-related disorder
GLikely benign
WDR73
(G238fs)
Duplication
(frameshift variant +1 more)
Galloway-Mowat syndrome 1
+1 more
GPathogenic/Likely pathogenic
WDR73
(Q235*)
Single nucleotide variant
(nonsense +1 more)
Nephrotic syndrome
+1 more
GPathogenic/Likely pathogenic
WDR73
(W233R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
WDR73
(S232T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
WDR73
(C227*)
Single nucleotide variant
(nonsense +1 more)
Dystonic disorder
GPathogenic
WDR73
(R225fs)
Microsatellite
(frameshift variant +1 more)
not provided
GPathogenic
WDR73
(S216N)
Single nucleotide variant
(missense variant +1 more)
Galloway-Mowat syndrome 1
GUncertain significance
WDR73
(R215H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
WDR73
(R215C)
Single nucleotide variant
(missense variant +1 more)
Galloway-Mowat syndrome 1
GUncertain significance
WDR73
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
WDR73
(P211L)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
WDR73
(W209C)
Single nucleotide variant
(missense variant +1 more)
Galloway-Mowat syndrome 1
GUncertain significance
WDR73
(W209*)
Single nucleotide variant
(nonsense +1 more)
Galloway-Mowat syndrome 1
+1 more
GPathogenic/Likely pathogenic
WDR73
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
WDR73
(R206W)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
WDR73
(G201E)
Single nucleotide variant
(missense variant +1 more)
Galloway-Mowat syndrome 1
GUncertain significance
WDR73
(R199Q)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
WDR73
(R199W)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
WDR73
Single nucleotide variant
(synonymous variant +1 more)
Galloway-Mowat syndrome 1
+1 more
GBenign
WDR73
(T190fs)
Microsatellite
(frameshift variant +1 more)
not provided
GPathogenic
WDR73
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
WDR73
Duplication
(nonsense +1 more)
Galloway-Mowat syndrome 1
+1 more
GPathogenic/Likely pathogenic
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