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Items: 1 to 100 of 184

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PAX6_HS3, PAX6_HS8
+334 more
Copy number loss
See cases
GPathogenic
LOC129390275, LOC129390276
+255 more
Copy number loss
See cases
GPathogenic
WT1
Single nucleotide variant
(3 prime UTR variant +1 more)
Meacham syndrome
+5 more
GBenign
WT1
Single nucleotide variant
(3 prime UTR variant +1 more)
Wilms tumor 1
+5 more
GBenign
WT1
Single nucleotide variant
(3 prime UTR variant +1 more)
Meacham syndrome
+5 more
GBenign
WT1
Single nucleotide variant
(3 prime UTR variant +1 more)
Meacham syndrome
+5 more
GBenign/Likely benign
WT1
Single nucleotide variant
(synonymous variant +1 more)
Wilms tumor 1
+7 more
GConflicting classifications of pathogenicity
WT1
(A125V +14 more)
Single nucleotide variant
(missense variant +1 more)
Wilms tumor 1
+8 more
GUncertain significance
WT1
(L517P +14 more)
Single nucleotide variant
(missense variant +1 more)
Drash syndrome
+9 more
GUncertain significance
WT1
(K476R +14 more)
Single nucleotide variant
(missense variant +1 more)
Frasier syndrome
+8 more
GUncertain significance
WT1
Single nucleotide variant
(intron variant)
Wilms tumor 1
+6 more
GBenign
WT1
Single nucleotide variant
(intron variant)
not provided
+9 more
GPathogenic
WT1
Single nucleotide variant
(intron variant)
Frasier syndrome
+6 more
GPathogenic/Likely pathogenic
WT1
Single nucleotide variant
(synonymous variant +2 more)
Wilms tumor 1
+4 more
GConflicting classifications of pathogenicity
WT1
(H240Y +11 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
WT1
(D252N +9 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic
WT1
(R250Q +10 more)
Single nucleotide variant
(missense variant +1 more)
Kidney disorder
+10 more
GPathogenic/Likely pathogenic
WT1
(R250W +9 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+9 more
GPathogenic/Likely pathogenic
WT1
(K210E +11 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
WT1
(R246Q +10 more)
Single nucleotide variant
(missense variant +1 more)
Drash syndrome
+9 more
GConflicting classifications of pathogenicity
WT1
(R246* +9 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+9 more
GPathogenic
WT1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
WT1
Single nucleotide variant
(intron variant)
Wilms tumor 1
+4 more
GLikely benign
WT1
(T234P +9 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
WT1
(R222H +8 more)
Single nucleotide variant
(missense variant +1 more)
Wilms tumor 1
+8 more
GPathogenic
WT1
(R218* +8 more)
Single nucleotide variant
(nonsense +1 more)
Wilms tumor 1
+8 more
GPathogenic
WT1
(F176L +10 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
WT1
Single nucleotide variant
(synonymous variant +2 more)
not provided
+4 more
GConflicting classifications of pathogenicity
WT1
(G205V +9 more)
Single nucleotide variant
(missense variant +1 more)
Familial idiopathic steroid-resistant nephrotic syndrome
+1 more
GLikely pathogenic
WT1
Single nucleotide variant
(intron variant)
not specified
+6 more
GBenign
WT1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
WT1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
WT1
Duplication
(intron variant)
not provided
GBenign
WT1
Deletion
(intron variant)
not provided
GLikely benign
WT1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
WT1
Single nucleotide variant
(intron variant)
not provided
GBenign
WT1
Single nucleotide variant
(intron variant)
not provided
GBenign
WT1
(R184M +10 more)
Single nucleotide variant
(missense variant +1 more)
Aniridia 1
+8 more
GUncertain significance
WT1
(N187T +9 more)
Single nucleotide variant
(missense variant +1 more)
Drash syndrome
+4 more
GUncertain significance
WT1
(Y183H +9 more)
Single nucleotide variant
(missense variant +1 more)
Drash syndrome
+7 more
GConflicting classifications of pathogenicity
WT1
(P161T +9 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+5 more
GUncertain significance
WT1
(S137R +9 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+4 more
GUncertain significance
WT1
Single nucleotide variant
(synonymous variant +2 more)
Frasier syndrome
+8 more
GConflicting classifications of pathogenicity
WT1
(R158L +9 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+4 more
GUncertain significance
WT1
(R158H +8 more)
Single nucleotide variant
(missense variant +2 more)
Meacham syndrome
+6 more
GConflicting classifications of pathogenicity
WT1
(R141C +9 more)
Single nucleotide variant
(missense variant +2 more)
Drash syndrome
+5 more
GUncertain significance
WT1
Single nucleotide variant
(synonymous variant +2 more)
Nephrotic syndrome, type 4
+8 more
GBenign
WT1
(R157Q +8 more)
Single nucleotide variant
(missense variant +2 more)
Wilms tumor 1
+4 more
GUncertain significance
WT1
(R157* +8 more)
Single nucleotide variant
(nonsense +2 more)
Wilms tumor 1
+6 more
GPathogenic
WT1
(V156M +8 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+5 more
GUncertain significance
WT1
Single nucleotide variant
(intron variant)
not provided
+10 more
GBenign/Likely benign
WT1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
WT1
Single nucleotide variant
(intron variant)
not provided
GBenign
WT1
Single nucleotide variant
(intron variant)
not provided
+4 more
GUncertain significance
WT1
Single nucleotide variant
(intron variant)
Wilms tumor 1
+4 more
GUncertain significance
WT1
(H108R +10 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
WT1
Single nucleotide variant
(synonymous variant +2 more)
not specified
+9 more
GBenign
WT1
(C138R +7 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+6 more
GConflicting classifications of pathogenicity
WT1
(H115P +10 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
WT1
Single nucleotide variant
(intron variant)
Wilms tumor 1
+7 more
GConflicting classifications of pathogenicity
WT1
Single nucleotide variant
(intron variant)
not provided
GBenign
WT1
Single nucleotide variant
(intron variant)
not provided
GBenign
WT1
Single nucleotide variant
(intron variant)
not provided
GBenign
WT1
Single nucleotide variant
(intron variant)
not provided
GBenign
WT1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
WT1
(S121N +4 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+4 more
GUncertain significance
WT1
Single nucleotide variant
(synonymous variant +2 more)
not provided
GUncertain significance
WT1
Single nucleotide variant
(synonymous variant +2 more)
Wilms tumor 1
+4 more
GConflicting classifications of pathogenicity
WT1
Single nucleotide variant
(synonymous variant +2 more)
not provided
+4 more
GConflicting classifications of pathogenicity
WT1
(G109A +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+5 more
GUncertain significance
WT1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
WT1
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+1 more
GBenign
WT1
(Y259H +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
WT1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
WT1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
WT1
Single nucleotide variant
(intron variant)
not provided
GBenign
WT1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
WT1
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
WT1
Single nucleotide variant
(intron variant)
Wilms tumor 1
+7 more
GBenign
WT1
(V55A +4 more)
Single nucleotide variant
(missense variant +1 more)
Frasier syndrome
+4 more
GUncertain significance
WT1
(G45D +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+8 more
GConflicting classifications of pathogenicity
WT1
Single nucleotide variant
(intron variant)
not specified
+6 more
GBenign/Likely benign
WT1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
WT1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
WT1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
WT1
Single nucleotide variant
(intron variant)
not provided
GBenign
WT1
(M38K +2 more)
Single nucleotide variant
(missense variant +1 more)
Wilms tumor 1
+8 more
GConflicting classifications of pathogenicity
WT1
(P37S +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+10 more
GConflicting classifications of pathogenicity
WT1
(H251R +2 more)
Single nucleotide variant
(missense variant +1 more)
Frasier syndrome
+4 more
GUncertain significance
WT1
(N246D +1 more)
Single nucleotide variant
(missense variant +1 more)
Frasier syndrome
+4 more
GUncertain significance
WT1
(A241T +2 more)
Single nucleotide variant
(missense variant +1 more)
Frasier syndrome
+4 more
GUncertain significance
WT1
(H23Y +2 more)
Single nucleotide variant
(missense variant +1 more)
Drash syndrome
+4 more
GUncertain significance
WT1
(P20L +2 more)
Single nucleotide variant
(missense variant +1 more)
Drash syndrome
+4 more
GUncertain significance
WT1
(G17R +1 more)
Single nucleotide variant
(missense variant +1 more)
Wilms tumor 1
+4 more
GUncertain significance
WT1
(Y16C +2 more)
Single nucleotide variant
(missense variant +3 more)
not provided
+4 more
GUncertain significance
WT1
(P14S +1 more)
Single nucleotide variant
(missense variant +1 more)
Frasier syndrome
+8 more
GUncertain significance
WT1
(G12R +1 more)
Single nucleotide variant
(missense variant +1 more)
Wilms tumor 1
+8 more
GUncertain significance
WT1
(D11H +2 more)
Single nucleotide variant
(missense variant +3 more)
not provided
GUncertain significance
WT1
(T224M +2 more)
Single nucleotide variant
(missense variant +1 more)
Wilms tumor 1
+4 more
GUncertain significance
WT1
Single nucleotide variant
(intron variant)
Drash syndrome
+6 more
GConflicting classifications of pathogenicity
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