U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 2931

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RB1
Single nucleotide variant
(intron variant)
Retinoblastoma
GUncertain significance
RB1
Single nucleotide variant
(intron variant)
Retinoblastoma
GUncertain significance
RB1
Single nucleotide variant
(intron variant)
Retinoblastoma
GPathogenic
RB1
(Y239*)
Single nucleotide variant
(nonsense)
Retinoblastoma
GPathogenic
RB1
(S230fs)
Microsatellite
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(I227fs)
Duplication
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(E209G)
Single nucleotide variant
(missense variant)
Retinoblastoma
GUncertain significance
RB1
Single nucleotide variant
(splice acceptor variant)
Retinoblastoma
GPathogenic
RB1
Single nucleotide variant
(splice donor variant)
Retinoblastoma
GPathogenic
RB1
Deletion
(splice donor variant)
Retinoblastoma
GPathogenic
RB1
(A201fs)
Deletion
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(W195*)
Single nucleotide variant
(nonsense)
Retinoblastoma
GPathogenic
RB1
(K192fs)
Deletion
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
Single nucleotide variant
(splice acceptor variant)
Retinoblastoma
GPathogenic
RB1
(Q176*)
Single nucleotide variant
(nonsense)
Retinoblastoma
GPathogenic
RB1
(L174*)
Single nucleotide variant
(nonsense)
Retinoblastoma
GPathogenic
RB1
Single nucleotide variant
(splice acceptor variant)
Retinoblastoma
GPathogenic
RB1
(F162fs)
Deletion
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(V157fs)
Deletion
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(Y155*)
Single nucleotide variant
(nonsense)
Retinoblastoma
GPathogenic
RB1
(Y155*)
Duplication
(nonsense)
Retinoblastoma
GPathogenic
RB1
(M148fs)
Deletion
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(N133*)
Duplication
(nonsense)
Retinoblastoma
GPathogenic
RB1
(S114*)
Single nucleotide variant
(nonsense)
Retinoblastoma
GPathogenic
RB1
(F115fs)
Duplication
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(F104fs)
Deletion
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(I103fs)
Deletion
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(E97fs)
Deletion
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(E97fs)
Indel
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
Indel
Retinoblastoma
GLikely pathogenic
RB1
(K94fs)
Deletion
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(G89*)
Single nucleotide variant
(nonsense)
Retinoblastoma
GPathogenic
RB1
Single nucleotide variant
(splice donor variant)
Retinoblastoma
GPathogenic
RB1
Single nucleotide variant
(synonymous variant)
Retinoblastoma
GPathogenic
RB1
(E79*)
Single nucleotide variant
(nonsense)
Retinoblastoma
GPathogenic
RB1
(L906V)
Single nucleotide variant
(missense variant +1 more)
Retinoblastoma
GUncertain significance
RB1
(N4fs +1 more)
Deletion
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(I848fs)
Deletion
(frameshift variant +1 more)
Retinoblastoma
GPathogenic
RB1
Deletion
(frameshift variant +1 more)
Retinoblastoma
GPathogenic
RB1
(K844fs)
Deletion
(frameshift variant +1 more)
Retinoblastoma
GPathogenic
RB1
(W78fs)
Deletion
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(E843fs)
Duplication
(frameshift variant +1 more)
Retinoblastoma
GPathogenic
RB1
Single nucleotide variant
(splice donor variant)
Retinoblastoma
GPathogenic
RB1
(W75*)
Single nucleotide variant
(nonsense)
Retinoblastoma
GPathogenic
RB1
(G836fs)
Deletion
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
Single nucleotide variant
(splice acceptor variant)
Retinoblastoma
GPathogenic
RB1
Single nucleotide variant
(intron variant)
Retinoblastoma
GLikely pathogenic
RB1
Deletion
(intron variant)
Retinoblastoma
GUncertain significance
RB1
Single nucleotide variant
(splice donor variant)
Retinoblastoma
GPathogenic
RB1
(R828fs)
Insertion
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(W75fs)
Insertion
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
Single nucleotide variant
Retinoblastoma
GLikely pathogenic
RB1
(P820fs)
Duplication
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(P820fs)
Deletion
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
Duplication
(nonsense)
Retinoblastoma
GPathogenic
RB1
(K810fs)
Duplication
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(L809fs)
Deletion
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(A74fs)
Microsatellite
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(L797fs)
Deletion
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(F792fs)
Insertion
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
Duplication
(nonsense)
Retinoblastoma
GPathogenic
RB1
(S780*)
Single nucleotide variant
(nonsense)
Retinoblastoma
GPathogenic
RB1
Indel
(intron variant)
Retinoblastoma
GUncertain significance
RB1
Deletion
(splice donor variant)
Retinoblastoma
GPathogenic
RB1
(M761fs)
Duplication
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(S758*)
Single nucleotide variant
(nonsense)
Retinoblastoma
GPathogenic
RB1
(V754I)
Single nucleotide variant
(missense variant)
Retinoblastoma
GUncertain significance
RB1
(I752fs)
Deletion
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(E747*)
Single nucleotide variant
(nonsense)
Retinoblastoma
GPathogenic
RB1
(D56fs)
Deletion
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(T738fs)
Deletion
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(V742fs)
Microsatellite
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
Deletion
(splice acceptor variant)
Retinoblastoma
GPathogenic
RB1
(A734fs)
Duplication
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(Y728*)
Single nucleotide variant
(nonsense)
Retinoblastoma
GPathogenic
RB1
(A727fs)
Duplication
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(T726fs)
Insertion
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(K713*)
Single nucleotide variant
(nonsense)
Retinoblastoma
GPathogenic
RB1
Indel
(nonsense)
Retinoblastoma
GPathogenic
RB1
Indel
(nonsense)
Retinoblastoma
GPathogenic
RB1
(M708fs)
Duplication
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(S707fs)
Deletion
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(M705fs)
Deletion
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(T52fs)
Duplication
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
Deletion
(splice acceptor variant)
Retinoblastoma
GPathogenic
RB1
(Q702K)
Single nucleotide variant
(missense variant)
Retinoblastoma
GLikely pathogenic
RB1
(R698fs)
Deletion
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(E691fs)
Deletion
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(E691*)
Single nucleotide variant
(nonsense)
Retinoblastoma
GPathogenic
RB1
(W681fs)
Duplication
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(E677fs)
Deletion
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(E675fs)
Deletion
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
Single nucleotide variant
(synonymous variant)
Retinoblastoma
GLikely benign
RB1
Deletion
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(L665P)
Single nucleotide variant
(missense variant)
Retinoblastoma
GUncertain significance
RB1
(N663fs)
Deletion
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
(L662P)
Single nucleotide variant
(missense variant)
Retinoblastoma
GLikely pathogenic
RB1
(L657P)
Single nucleotide variant
(missense variant)
Retinoblastoma
GLikely pathogenic
RB1
(L657fs)
Duplication
(frameshift variant)
Retinoblastoma
GPathogenic
RB1
Deletion
(inframe_indel)
Retinoblastoma
GPathogenic
Format
Items per page
Sort by
Choose Destination