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Links from MedGen

Items: 55

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
WDR73
(D2fs)
Deletion
(frameshift variant +1 more)
Galloway-Mowat syndrome 1
GLikely pathogenic
WDR73
(G310*)
Single nucleotide variant
(nonsense +1 more)
Galloway-Mowat syndrome 1
GUncertain significance
WDR73
(W209C)
Single nucleotide variant
(missense variant +1 more)
Galloway-Mowat syndrome 1
GUncertain significance
WDR73
(R215C)
Single nucleotide variant
(missense variant +1 more)
Galloway-Mowat syndrome 1
GUncertain significance
WDR73
(W369*)
Single nucleotide variant
(nonsense +1 more)
Galloway-Mowat syndrome 1
GUncertain significance
WDR73
(A292V)
Single nucleotide variant
(missense variant +1 more)
Galloway-Mowat syndrome 1
GUncertain significance
WDR73
(R249C)
Single nucleotide variant
(missense variant +1 more)
Galloway-Mowat syndrome 1
GUncertain significance
WDR73
Single nucleotide variant
(non-coding transcript variant +1 more)
Galloway-Mowat syndrome 1
GLikely pathogenic
WDR73
(D116N)
Single nucleotide variant
(missense variant +1 more)
Galloway-Mowat syndrome 1
+1 more
GUncertain significance
WDR73
(A376T)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
WDR73
(S216N)
Single nucleotide variant
(missense variant +1 more)
Galloway-Mowat syndrome 1
GUncertain significance
WDR73
Duplication
(nonsense +1 more)
Galloway-Mowat syndrome 1
+1 more
GPathogenic/Likely pathogenic
WDR73
Single nucleotide variant
(synonymous variant +1 more)
Galloway-Mowat syndrome 1
+1 more
GLikely benign
WDR73
(G201E)
Single nucleotide variant
(missense variant +1 more)
Galloway-Mowat syndrome 1
GUncertain significance
WDR73
(L366fs)
Microsatellite
(frameshift variant +1 more)
Galloway-Mowat syndrome 1
GLikely pathogenic
WDR73
(R199Q)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
WDR73
(D334G)
Single nucleotide variant
(non-coding transcript variant +1 more)
Galloway-Mowat syndrome 1
+1 more
GBenign
WDR73
Microsatellite
(inframe_insertion +1 more)
not provided
+1 more
GUncertain significance
WDR73
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GLikely benign
WDR73
(D118E)
Single nucleotide variant
(missense variant +1 more)
Galloway-Mowat syndrome 1
+1 more
GUncertain significance
WDR73
(D35del)
Microsatellite
(inframe_deletion +1 more)
not provided
+1 more
GUncertain significance
WDR73
(R378C)
Single nucleotide variant
(non-coding transcript variant +1 more)
Galloway-Mowat syndrome 1
+1 more
GUncertain significance
WDR73
(P377L)
Single nucleotide variant
(missense variant +1 more)
Galloway-Mowat syndrome 1
+1 more
GUncertain significance
WDR73
(W209*)
Single nucleotide variant
(nonsense +1 more)
Galloway-Mowat syndrome 1
+1 more
GPathogenic/Likely pathogenic
WDR73
(S240fs)
Duplication
(frameshift variant +1 more)
not provided
+1 more
GPathogenic
WDR73
(G295D)
Single nucleotide variant
(missense variant +1 more)
Galloway-Mowat syndrome 1
GLikely pathogenic
WDR73
(G238fs)
Duplication
(frameshift variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
WDR73
Microsatellite
(inframe_deletion +1 more)
Galloway-Mowat syndrome 1
+1 more
GBenign
WDR73
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
WDR73
Single nucleotide variant
(non-coding transcript variant +1 more)
Galloway-Mowat syndrome 1
+1 more
GBenign/Likely benign
WDR73
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
WDR73
Single nucleotide variant
(synonymous variant +1 more)
Galloway-Mowat syndrome 1
+2 more
GLikely benign
WDR73
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GBenign
WDR73
(R256Q)
Single nucleotide variant
(missense variant +1 more)
Galloway-Mowat syndrome 1
GLikely pathogenic
WDR73
(R318W)
Single nucleotide variant
(missense variant +1 more)
Galloway-Mowat syndrome 1
+2 more
GUncertain significance
ZNF592
(R721W)
Single nucleotide variant
(missense variant)
Galloway-Mowat syndrome 1
GUncertain significance
ZNF592
(V911I)
Single nucleotide variant
(missense variant)
Galloway-Mowat syndrome 1
GUncertain significance
WDR73
(R256W)
Single nucleotide variant
(missense variant +1 more)
Galloway-Mowat syndrome 1
+1 more
GUncertain significance
WDR73
Single nucleotide variant
(intron variant)
Galloway-Mowat syndrome 1
+1 more
GUncertain significance
Abnormality of neuronal migration
GUncertain significance
WDR73
(R378fs)
Duplication
(frameshift variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
WDR73
(L98P)
Single nucleotide variant
(missense variant +1 more)
Galloway-Mowat syndrome 1
GLikely pathogenic
WDR73
(F296fs)
Deletion
(frameshift variant +1 more)
Galloway-Mowat syndrome 1
+2 more
GPathogenic
WDR73
(R96K)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
WDR73
(Q314*)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
WDR73
(L23Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
WDR73
(H347Y)
Single nucleotide variant
(missense variant +1 more)
Galloway-Mowat syndrome 1
GPathogenic
WDR73
(W136fs)
Microsatellite
(frameshift variant +1 more)
Galloway-Mowat syndrome 1
GPathogenic
WDR73
(Q235*)
Single nucleotide variant
(nonsense +1 more)
Nephrotic syndrome
+1 more
GPathogenic/Likely pathogenic
WDR73
(R256fs)
Duplication
(frameshift variant +1 more)
Galloway-Mowat syndrome 1
+1 more
GPathogenic/Likely pathogenic
WDR73
(Y43*)
Single nucleotide variant
(nonsense +1 more)
Galloway-Mowat syndrome 1
GPathogenic
ENG
(P131L)
Single nucleotide variant
(missense variant +1 more)
Telangiectasia, hereditary hemorrhagic, type 1
GBenign
ZNF592
(S926N)
Single nucleotide variant
(missense variant)
not provided
GBenign
ZNF592
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ZNF592
(G1046R)
Single nucleotide variant
(missense variant)
Galloway-Mowat syndrome 1
GUncertain significance
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