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Items: 22

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MUTYH
(P465A +8 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
RB1
Deletion
(inframe_deletion)
Retinoblastoma
+4 more
GBenign
RB1
Single nucleotide variant
(synonymous variant)
Retinoblastoma
+3 more
GBenign/Likely benign
RB1
(M113L)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
RB1
(E137D)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GBenign/Likely benign
RB1
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
RB1
(S187F)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
RB1
(L206I)
Single nucleotide variant
(missense variant)
Retinoblastoma
GUncertain significance
RB1
(D210Y)
Single nucleotide variant
(missense variant)
Retinoblastoma
+3 more
GConflicting classifications of pathogenicity
RB1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
RB1
(G423E)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
RB1
Single nucleotide variant
(intron variant)
Retinoblastoma
+3 more
GBenign
RB1
Single nucleotide variant
(intron variant)
Retinoblastoma
+3 more
GConflicting classifications of pathogenicity
RB1
(M484V)
Single nucleotide variant
(missense variant)
Retinoblastoma
GUncertain significance
RB1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
RB1
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign/Likely benign
RB1
Single nucleotide variant
(missense variant)
RB1-related disorder
+5 more
GConflicting classifications of pathogenicity
RB1
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
RB1
Single nucleotide variant
(synonymous variant)
Retinoblastoma
+1 more
GLikely benign
RB1
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+3 more
GBenign/Likely benign
RB1
Single nucleotide variant
(intron variant)
Retinoblastoma
+2 more
GBenign
PALB2
(D446V)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+7 more
GConflicting classifications of pathogenicity
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