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Links from MedGen

Items: 1 to 100 of 5447

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDE6A
Single nucleotide variant
(splice acceptor variant)
Retinitis pigmentosa
GLikely pathogenic
ABCA4
Deletion
(frameshift variant +1 more)
Retinitis pigmentosa
GPathogenic
CERKL
(Q280* +4 more)
Single nucleotide variant
(nonsense +1 more)
Retinitis pigmentosa
GLikely pathogenic
PRPF31, PRPF31-AS1
+1 more
Single nucleotide variant
(splice donor variant)
Retinitis pigmentosa
GLikely pathogenic
MYO7A
(S168fs +1 more)
Deletion
(frameshift variant)
Retinitis pigmentosa
GPathogenic
COL2A1
(L652P +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
GUncertain significance
OPA1
(E480V +9 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
GUncertain significance
USH2A, USH2A-AS2
(K1674*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa
GPathogenic
PDE6A
(F695fs +1 more)
Deletion
(frameshift variant)
Retinitis pigmentosa
GLikely pathogenic
NR2E3
(K107del)
Microsatellite
(inframe_deletion)
Retinitis pigmentosa
GLikely pathogenic
MERTK
(V737F)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
GLikely pathogenic
IMPG2
(Y924C)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
GUncertain significance
FAM161A
(A474fs)
Deletion
(frameshift variant +1 more)
Retinitis pigmentosa
GLikely pathogenic
EYS
(A2410T)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
GLikely pathogenic
EYS
Duplication
Retinitis pigmentosa
GLikely pathogenic
EYS
(S1367*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa
GLikely pathogenic
EYS
Deletion
Retinitis pigmentosa
GPathogenic
CNGB1
Deletion
(nonsense)
Retinitis pigmentosa
GLikely pathogenic
CNGB1
Duplication
Retinitis pigmentosa
GLikely pathogenic
ARL2BP
(F13fs)
Deletion
(frameshift variant)
Retinitis pigmentosa
GPathogenic
TULP1
(I139fs +1 more)
Duplication
(frameshift variant)
Retinitis pigmentosa
GLikely pathogenic
SNRNP200
(R1152C)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
GUncertain significance
RPGR
(G856fs)
Deletion
(frameshift variant +1 more)
Retinitis pigmentosa
GLikely pathogenic
RPGR
(K786fs)
Deletion
(frameshift variant +1 more)
Primary ciliary dyskinesia
+1 more
GPathogenic/Likely pathogenic
RPGR
(R688fs)
Deletion
(frameshift variant +1 more)
Retinitis pigmentosa
GLikely pathogenic
RP2
(F92fs)
Indel
(frameshift variant)
Retinitis pigmentosa
GLikely pathogenic
RP2
(F75fs)
Deletion
(frameshift variant)
Retinitis pigmentosa
GLikely pathogenic
PRPF31, PRPF31-AS1
(L219fs)
Duplication
(frameshift variant)
Retinitis pigmentosa
GPathogenic
EYS
(K1700*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa
GPathogenic
RHO
(K296N)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
GLikely pathogenic
CERKL
Single nucleotide variant
(splice acceptor variant)
Retinitis pigmentosa 26
+1 more
GLikely pathogenic
RLBP1
(R151W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
EYS
Deletion
Retinitis pigmentosa
GPathogenic
PDE6B
(M244R +2 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+1 more
GConflicting classifications of pathogenicity
EYS, PHF3
(N3061fs +1 more)
Microsatellite
(3 prime UTR variant +1 more)
Retinitis pigmentosa 25
+2 more
GPathogenic
IFT140
(F533fs)
Insertion
(frameshift variant)
Saldino-Mainzer syndrome
+1 more
GPathogenic
CYGB, PRCD
(S38*)
Duplication
(nonsense +1 more)
Retinitis pigmentosa
+1 more
GConflicting classifications of pathogenicity
MAK
(L132fs +1 more)
Duplication
(frameshift variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
EYS
(C2396S)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+1 more
GConflicting classifications of pathogenicity
MAK
Deletion
Retinitis pigmentosa
GLikely pathogenic
EYS
Deletion
Retinitis pigmentosa
GLikely pathogenic
EYS
Duplication
Retinitis pigmentosa
GLikely pathogenic
IMPG1
(K170Q +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
GUncertain significance
IFT140, LOC105371046
Single nucleotide variant
(splice donor variant)
Retinitis pigmentosa
GLikely pathogenic
CERKL
(V190fs)
Deletion
(frameshift variant +2 more)
Retinitis pigmentosa
+1 more
GLikely pathogenic
FAM161A
(Q127fs)
Deletion
(frameshift variant +1 more)
Retinitis pigmentosa
GLikely pathogenic
EYS, PHF3
(C2868* +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Retinitis pigmentosa 25
+1 more
GLikely pathogenic
EYS
Deletion
Retinitis pigmentosa
GLikely pathogenic
EYS
Deletion
Retinitis pigmentosa
GLikely pathogenic
EYS
Deletion
Retinitis pigmentosa
GPathogenic
EYS
Deletion
Retinitis pigmentosa
GLikely pathogenic
EYS, PHF3
(T2877fs +1 more)
Duplication
(3 prime UTR variant +1 more)
Retinitis pigmentosa
GLikely pathogenic
CFAP418, CFAP418-AS1
+1 more
(L22P)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
CFAP418, CFAP418-AS1
+1 more
(E28K)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
CFAP418, CFAP418-AS1
+1 more
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign/Likely benign
CFAP418
(S85F)
Single nucleotide variant
(missense variant)
CFAP418-related disorder
+4 more
GUncertain significance
CFAP418
(G111R)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
CFAP418
Single nucleotide variant
(intron variant)
not provided
+3 more
GLikely benign
CFAP418
Single nucleotide variant
(intron variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
CFAP418
(S141N)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
CFAP418
(S150W)
Single nucleotide variant
(missense variant +1 more)
CFAP418-related disorder
+4 more
GUncertain significance
CFAP418
(R145Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
CFAP418
(R154G +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
CFAP418
(R169P +1 more)
Single nucleotide variant
(missense variant)
Bardet-biedl syndrome 21
+3 more
GUncertain significance
EYS
Deletion
Retinitis pigmentosa
GPathogenic
EYS
Deletion
Retinitis pigmentosa
GPathogenic
ARL6
(L48H)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 3
+3 more
GUncertain significance
EYS, PHF3
(D3028Y +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
USH2A
Single nucleotide variant
(intron variant)
Usher syndrome type 2A
+4 more
GPathogenic/Likely pathogenic
RBP3
(D241V)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 66
+2 more
GUncertain significance
EYS
(W1484*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa
+2 more
GPathogenic
EYS
(C759fs)
Microsatellite
(frameshift variant)
Retinitis pigmentosa
+1 more
GPathogenic/Likely pathogenic
AIPL1
Single nucleotide variant
(intron variant +1 more)
Leber congenital amaurosis 4
+1 more
GPathogenic/Likely pathogenic
FLVCR1
(Q400*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
EYS
(L165fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
AIPL1
(A308G +6 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa
+1 more
GUncertain significance
EYS
(E1850fs)
Deletion
(frameshift variant)
Retinitis pigmentosa
GLikely pathogenic
EYS
(V1846fs)
Deletion
(frameshift variant)
Retinitis pigmentosa
GLikely pathogenic
CYGB, PRCD
Single nucleotide variant
(splice donor variant)
not provided
+2 more
GPathogenic/Likely pathogenic
CHM
(L235fs +1 more)
Duplication
(frameshift variant)
Retinitis pigmentosa
GPathogenic
PDE6B, PDE6B-AS1
(D288fs +1 more)
Deletion
(frameshift variant +1 more)
Retinitis pigmentosa
+1 more
GPathogenic
RP1
(K663fs)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic
ARL6
(L177F)
Single nucleotide variant
(missense variant +2 more)
not provided
+5 more
GUncertain significance
CERKL
(R106C)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
EYS
(C952fs)
Deletion
(frameshift variant)
Retinitis pigmentosa
GPathogenic
KIF11
Duplication
(frameshift variant)
Retinitis pigmentosa
GPathogenic
IFT172
Deletion
(inframe_deletion)
Retinitis pigmentosa
GUncertain significance
GNAT1
(V170L)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
GUncertain significance
FLVCR1
(L269P)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
GUncertain significance
FLVCR1
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa
GUncertain significance
EYS
Single nucleotide variant
(splice donor variant)
Retinitis pigmentosa 25
+2 more
GPathogenic/Likely pathogenic
EYS
(W58*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
EYS
Single nucleotide variant
(intron variant)
Retinitis pigmentosa
GUncertain significance
EYS, PHF3
(I2823T +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
EYS
(S398*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
DHDDS
(T113A +3 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 59
+1 more
GLikely pathogenic
CRB1
(C5W +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 12
+1 more
GUncertain significance
CRB1
(G503D +2 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 12
+2 more
GConflicting classifications of pathogenicity
CNNM4
(C244F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CNGB1
(K762N +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
GUncertain significance
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