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Items: 1 to 100 of 241

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130057806, LOC130057807
+1763 more
Copy number gain
See cases
GPathogenic
ABHD17C, ABHD2
+1244 more
Copy number gain
See cases
GPathogenic
ADAMTSL3, ALPK3
+119 more
Copy number loss
See cases
GLikely pathogenic
ADAMTSL3, ALPK3
+119 more
Copy number loss
See cases
GLikely pathogenic
LOC130057831, LOC130057832
+664 more
Copy number gain
See cases
GPathogenic
ABHD2, ACAN
+630 more
Copy number gain
See cases
GPathogenic
LOC130057938, LOC130057939
+611 more
Copy number gain
See cases
GPathogenic
ALPK3, LINC00933
+42 more
Copy number loss
See cases
GUncertain significance
LOC130057805, LOC130057806
+40 more
Copy number gain
See cases
GUncertain significance
ALPK3, LINC00933
+41 more
Copy number loss
See cases
GUncertain significance
ALPK3, LINC00933
+40 more
Copy number loss
See cases
GUncertain significance
ALPK3, LINC00933
+42 more
Copy number loss
See cases
GUncertain significance
ALPK3, LINC00933
+39 more
Deletion
not provided
GUncertain significance
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
(non-coding transcript variant +1 more)
not provided
GUncertain significance
WDR73
(R378fs)
Duplication
(frameshift variant +1 more)
Galloway-Mowat syndrome 1
+2 more
GConflicting classifications of pathogenicity
WDR73
(R378S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
WDR73
(R378C)
Single nucleotide variant
(non-coding transcript variant +1 more)
Galloway-Mowat syndrome 1
+1 more
GUncertain significance
WDR73
(R378fs)
Deletion
(frameshift variant +1 more)
not specified
+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
GUncertain significance
WDR73
(A376S)
Single nucleotide variant
(missense variant +1 more)
WDR73-related disorder
+2 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
+1 more
GBenign/Likely benign
WDR73
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
WDR73
(D334G)
Single nucleotide variant
(non-coding transcript variant +1 more)
Galloway-Mowat syndrome 1
+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
(S319N)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
WDR73
(R318W)
Single nucleotide variant
(missense variant +1 more)
Galloway-Mowat syndrome 1
+2 more
GUncertain significance
WDR73
(G316A)
Single nucleotide variant
(missense variant +1 more)
not provided
+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
+1 more
GConflicting classifications of pathogenicity
WDR73
(R312W)
Single nucleotide variant
(missense 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)
WDR73-related disorder
+1 more
GLikely benign
WDR73
(T306A)
Single nucleotide variant
(non-coding transcript 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)
WDR73-related disorder
+2 more
GPathogenic
WDR73
(G295D)
Single nucleotide variant
(missense variant +1 more)
Galloway-Mowat syndrome 1
GLikely pathogenic
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)
not provided
+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
(non-coding transcript 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)
Galloway-Mowat syndrome 1
+1 more
GPathogenic/Likely pathogenic
WDR73
(R256W)
Single nucleotide variant
(missense variant +1 more)
Galloway-Mowat syndrome 1
+1 more
GUncertain significance
WDR73
(C251fs)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
WDR73
(R249H)
Single nucleotide variant
(non-coding transcript 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)
WDR73-related disorder
+1 more
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)
not provided
+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
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