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Items: 1 to 100 of 632

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RB1
Deletion
Retinoblastoma
GLikely pathogenic
RB1
Single nucleotide variant
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic
RB1
Single nucleotide variant
Retinoblastoma
GPathogenic
RB1
(A15fs)
Duplication
(frameshift variant +1 more)
Hereditary cancer-predisposing syndrome
GPathogenic
RB1
(T5fs)
Deletion
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(R7fs)
Duplication
(frameshift variant)
Retinoblastoma
+2 more
GPathogenic
RB1
(R7fs)
Deletion
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
Indel
Hereditary cancer-predisposing syndrome
GPathogenic
RB1
(K8*)
Insertion
(nonsense)
Retinoblastoma
GPathogenic
RB1
(T9fs)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
GPathogenic
RB1
(K8fs)
Deletion
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(T12fs)
Deletion
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(A11fs)
Deletion
(frameshift variant)
Retinoblastoma
GPathogenic/Likely pathogenic
RB1
(A17fs)
Deletion
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(P28fs)
Duplication
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(A16fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
RB1
(A15fs)
Deletion
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(A13fs)
Deletion
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(A13fs)
Deletion
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(P24fs)
Duplication
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(P23fs)
Duplication
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(P29fs)
Duplication
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(P27fs)
Duplication
(frameshift variant)
Hereditary cancer-predisposing syndrome
GPathogenic
RB1
(P21fs)
Microsatellite
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(P26fs)
Duplication
(frameshift variant)
Retinoblastoma
+1 more
GPathogenic/Likely pathogenic
RB1
(P25fs)
Duplication
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(E19fs)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic
RB1
(P26fs)
Duplication
(frameshift variant)
Hereditary cancer-predisposing syndrome
GPathogenic
RB1
(E19*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
GPathogenic
RB1
(A22fs)
Duplication
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(P21fs)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
GPathogenic
RB1
(P20fs)
Deletion
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(P28fs)
Deletion
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(D32fs)
Duplication
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(E34fs)
Duplication
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(E34*)
Single nucleotide variant
(nonsense)
Retinoblastoma
GPathogenic
RB1
(Q35*)
Single nucleotide variant
(nonsense)
Retinoblastoma
GPathogenic
RB1
(D36fs)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
GPathogenic
RB1
(S37fs)
Duplication
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(S37fs)
Deletion
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(G38fs)
Indel
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(E40fs)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
GPathogenic
RB1
(E40*)
Single nucleotide variant
(nonsense)
Retinoblastoma
GPathogenic
RB1
(L44fs)
Duplication
(frameshift variant)
Hereditary cancer-predisposing syndrome
GPathogenic
RB1
(L44fs)
Microsatellite
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(R46fs)
Deletion
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(R46K)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GPathogenic
RB1
Single nucleotide variant
(splice donor variant)
Retinoblastoma
GPathogenic
RB1
Single nucleotide variant
(splice donor variant)
Hereditary cancer-predisposing syndrome
GPathogenic
RB1
Single nucleotide variant
(splice donor variant)
Retinoblastoma
GPathogenic
RB1
Deletion
Retinoblastoma
GPathogenic
RB1
Deletion
Retinoblastoma
GPathogenic
RB1
Single nucleotide variant
(splice acceptor variant)
Retinoblastoma
GPathogenic
RB1
Single nucleotide variant
(splice acceptor variant)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic/Likely pathogenic
RB1
(E48*)
Single nucleotide variant
(nonsense)
Retinoblastoma
GPathogenic
RB1
(E53fs)
Deletion
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(E54*)
Single nucleotide variant
(nonsense)
Retinoblastoma
GPathogenic
RB1
(P55fs)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
GPathogenic
RB1
(A59fs)
Duplication
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(L60*)
Single nucleotide variant
(nonsense)
Retinoblastoma
GPathogenic
RB1
(Q62*)
Single nucleotide variant
(nonsense)
Retinoblastoma
GPathogenic
RB1
(L64*)
Single nucleotide variant
(nonsense)
Retinoblastoma
GPathogenic
RB1
(R73fs)
Microsatellite
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(R73fs)
Microsatellite
(frameshift variant)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic
RB1
(R73fs)
Deletion
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(A74fs)
Deletion
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(T77*)
Duplication
(nonsense)
Retinoblastoma
GPathogenic
RB1
(T77fs)
Deletion
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(W78*)
Single nucleotide variant
(nonsense)
Retinoblastoma
GPathogenic
RB1
(V81fs)
Deletion
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(S82*)
Single nucleotide variant
(nonsense)
Retinoblastoma
GPathogenic
RB1
(S82*)
Single nucleotide variant
(nonsense)
Retinoblastoma
GPathogenic
RB1
Single nucleotide variant
(splice donor variant)
Retinoblastoma
GPathogenic
RB1
Single nucleotide variant
(splice donor variant)
Retinoblastoma
GPathogenic
RB1
Single nucleotide variant
(splice donor variant)
Retinoblastoma
+1 more
GPathogenic
RB1
Single nucleotide variant
(intron variant)
Retinoblastoma
GLikely pathogenic
RB1
Duplication
Retinoblastoma
GPathogenic
RB1
Deletion
Retinoblastoma
GPathogenic
RB1
(Y91fs)
Deletion
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(Y91*)
Single nucleotide variant
(nonsense)
Lynch syndrome 4
GLikely pathogenic
RB1
(Q93*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
RB1
(K95fs)
Duplication
(frameshift variant)
Hereditary cancer-predisposing syndrome
GPathogenic
RB1
(E97fs)
Duplication
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(K96fs)
Deletion
(frameshift variant)
not provided
GPathogenic
RB1
(K95*)
Single nucleotide variant
(nonsense)
Retinoblastoma
GPathogenic
RB1
(W99fs)
Microsatellite
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(G100fs)
Insertion
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(W99*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
RB1
(C102fs)
Deletion
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(I103fs)
Duplication
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(F104fs)
Deletion
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(E112fs)
Microsatellite
(frameshift variant)
not provided
GLikely pathogenic
RB1
(E112*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
GPathogenic
RB1
(I124fs)
Deletion
(frameshift variant)
RB1-related condition
+3 more
GPathogenic
RB1
(E125*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic/Likely pathogenic
RB1
(I126fs)
Deletion
(frameshift variant)
Retinoblastoma
+1 more
GPathogenic
RB1
(I126fs)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic
RB1
(S127I)
Single nucleotide variant
(missense variant)
Retinoblastoma
GLikely pathogenic
RB1
(S127N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
RB1
(S127T)
Single nucleotide variant
(missense variant)
Retinoblastoma
+1 more
GLikely pathogenic
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