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Links from MedGen

Items: 1 to 100 of 1081

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GPHN, RDH12
(A64fs)
Deletion
(frameshift variant)
Leber congenital amaurosis 13
+1 more
GPathogenic
RPGRIP1
(L406fs +1 more)
Deletion
(frameshift variant)
Leber congenital amaurosis
GPathogenic
RPGRIP1L
(Q291R)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis
GLikely pathogenic
CRB1
(V1097fs +2 more)
Microsatellite
(frameshift variant +2 more)
Leber congenital amaurosis
GPathogenic
SPATA7
(Q63* +1 more)
Single nucleotide variant
(nonsense)
Leber congenital amaurosis
GLikely pathogenic
GPHN, RDH12
(M1T)
Single nucleotide variant
(missense variant +1 more)
Leber congenital amaurosis
GUncertain significance
LRAT
(E14L)
Indel
(missense variant)
Leber congenital amaurosis
GLikely pathogenic
RPE65
Single nucleotide variant
(splice acceptor variant)
Retinitis pigmentosa 20
+2 more
GLikely pathogenic
TULP1
(A81fs)
Indel
(frameshift variant +1 more)
Leber congenital amaurosis
GLikely pathogenic
SPATA7
(K66fs +1 more)
Deletion
(frameshift variant)
Leber congenital amaurosis
GLikely pathogenic
SPATA7
(Q46*)
Single nucleotide variant
(nonsense +1 more)
Leber congenital amaurosis
GLikely pathogenic
RPGRIP1
(L1207* +4 more)
Single nucleotide variant
(nonsense)
Leber congenital amaurosis
GLikely pathogenic
LOC130056226, SPATA7
(M1I)
Single nucleotide variant
(missense variant +1 more)
Leber congenital amaurosis
GLikely pathogenic
SPATA7
(D400* +1 more)
Duplication
(nonsense)
Leber congenital amaurosis
GLikely pathogenic
RPE65
Deletion
Leber congenital amaurosis
GLikely pathogenic
LCA5
(A184fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
RPE65
(H313R)
Single nucleotide variant
(missense variant)
RPE65-related recessive retinopathy
GPathogenic
TULP1
(Q211* +1 more)
Single nucleotide variant
(nonsense)
Leber congenital amaurosis
+1 more
GPathogenic
GPHN, RDH12
+1 more
(A262fs)
Deletion
(frameshift variant)
Leber congenital amaurosis 13
+1 more
GPathogenic
GPHN, RDH12
Single nucleotide variant
(splice donor variant)
Leber congenital amaurosis
+1 more
GPathogenic
ZFYVE26, RDH12
+1 more
(V233D)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis
GPathogenic
CEP290
(R1561H)
Single nucleotide variant
(missense variant)
CEP290-related disorder
+5 more
GUncertain significance
CRB1
(C219F +1 more)
Single nucleotide variant
(missense variant +2 more)
Retinitis pigmentosa 12
+3 more
GUncertain significance
ALMS1
(Q2909* +1 more)
Single nucleotide variant
(nonsense)
Leber congenital amaurosis
GPathogenic
ALMS1
(I2456fs +1 more)
Deletion
(frameshift variant)
Leber congenital amaurosis
GPathogenic
ALMS1
(R3606W +1 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis
+1 more
GPathogenic
ALMS1
(L1116fs +1 more)
Duplication
(frameshift variant)
Leber congenital amaurosis
GLikely pathogenic
ALMS1
(G1415fs +1 more)
Deletion
(frameshift variant)
Leber congenital amaurosis
GLikely pathogenic
GPHN, RDH12
+1 more
(V223F)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis
+1 more
GConflicting classifications of pathogenicity
OTX2
(N225fs +1 more)
Deletion
(frameshift variant +1 more)
Leber congenital amaurosis
GPathogenic
IQCB1
(W265* +1 more)
Single nucleotide variant
(nonsense +1 more)
Leber congenital amaurosis
GPathogenic
IFT140
(R834P)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis
GUncertain significance
IFT140, LOC126862260
(L945P)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 80
+1 more
GUncertain significance
RPE65
Single nucleotide variant
(intron variant)
not provided
GBenign
ALMS1
(V2627fs +1 more)
Insertion
(frameshift variant)
Leber congenital amaurosis
GLikely pathogenic
RPE65
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 2
+1 more
GBenign
CEP290
Single nucleotide variant
(synonymous variant)
Meckel-Gruber syndrome
+2 more
GLikely benign
CRB1
Single nucleotide variant
(synonymous variant +2 more)
Retinitis pigmentosa 12
+1 more
GLikely benign
CEP290
Single nucleotide variant
(synonymous variant)
Meckel-Gruber syndrome
+2 more
GLikely benign
CEP290
Single nucleotide variant
(synonymous variant)
Meckel-Gruber syndrome
+2 more
GLikely benign
CEP290
Single nucleotide variant
(synonymous variant)
Familial aplasia of the vermis
+2 more
GLikely benign
CRB1
Single nucleotide variant
(synonymous variant +2 more)
Retinitis pigmentosa 12
+1 more
GLikely benign
CEP290
Single nucleotide variant
(synonymous variant)
Nephronophthisis
+7 more
GLikely benign
CEP290
Single nucleotide variant
(synonymous variant)
Nephronophthisis
+2 more
GLikely benign
CEP290
Single nucleotide variant
(synonymous variant)
Nephronophthisis
+2 more
GLikely benign
GPHN, RDH12
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 13
GLikely benign
CRB1
Single nucleotide variant
(synonymous variant +2 more)
Retinitis pigmentosa 12
+1 more
GLikely benign
CRB1
Single nucleotide variant
(synonymous variant +1 more)
Retinitis pigmentosa 12
+1 more
GLikely benign
CRB1
Single nucleotide variant
(synonymous variant +2 more)
Retinitis pigmentosa 12
+1 more
GLikely benign
CEP290
Single nucleotide variant
(synonymous variant)
Meckel-Gruber syndrome
+2 more
GLikely benign
CRB1
(S499P +2 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 12
+2 more
GPathogenic/Likely pathogenic
SPATA7
(L57fs +1 more)
Deletion
(frameshift variant)
Leber congenital amaurosis
+1 more
GPathogenic
GPHN, RDH12
(Y194fs)
Duplication
(frameshift variant)
Leber congenital amaurosis
+1 more
GPathogenic/Likely pathogenic
GPHN, RDH12
(G76R)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis
+1 more
GPathogenic/Likely pathogenic
CEP290
(E1364*)
Single nucleotide variant
(nonsense)
Nephronophthisis
+8 more
GPathogenic
RPE65
(G32C)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 2
+1 more
GPathogenic
CRB1
Single nucleotide variant
(splice acceptor variant)
Retinitis pigmentosa 12
+1 more
GLikely pathogenic
GPHN, RDH12
(L93P)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 13
+1 more
GPathogenic
GPHN, RDH12
Single nucleotide variant
(splice acceptor variant)
Leber congenital amaurosis 13
GLikely pathogenic
RPE65
Single nucleotide variant
(splice acceptor variant)
Retinitis pigmentosa 20
+1 more
GLikely pathogenic
RPE65
(E469fs)
Deletion
(frameshift variant)
Leber congenital amaurosis 2
+1 more
GLikely pathogenic
CRB1
(P235L +2 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 12
+1 more
GUncertain significance
CEP290
(S2013A)
Single nucleotide variant
(missense variant)
CEP290-related disorder
+3 more
GUncertain significance
CRB1
(T858I +2 more)
Single nucleotide variant
(missense variant +2 more)
Retinitis pigmentosa 12
+1 more
GUncertain significance
CEP290
(M1061V)
Single nucleotide variant
(missense variant)
Familial aplasia of the vermis
+2 more
GUncertain significance
CEP290
(V814L)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+7 more
GUncertain significance
CEP290
(F760S)
Single nucleotide variant
(missense variant)
CEP290-related disorder
+9 more
GUncertain significance
CEP290, RLIG1
(A2462del)
Microsatellite
(inframe_deletion +1 more)
Familial aplasia of the vermis
+2 more
GUncertain significance
CRB1
(D180N +1 more)
Single nucleotide variant
(missense variant +2 more)
Retinitis pigmentosa 12
+1 more
GUncertain significance
GPHN, RDH12
(G181D)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 13
GUncertain significance
CRB1
(D1060N +2 more)
Single nucleotide variant
(missense variant +2 more)
Retinitis pigmentosa 12
+1 more
GUncertain significance
CEP290
(E174V)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 4
+7 more
GUncertain significance
RPE65
(R515Q)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 20
+1 more
GUncertain significance
CRB1
(I1236T +3 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 12
+1 more
GUncertain significance
CEP290
(I617T)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+2 more
GUncertain significance
CRB1
(G1003R +2 more)
Single nucleotide variant
(missense variant +2 more)
Retinitis pigmentosa 12
+1 more
GUncertain significance
GPHN, RDH12
(S10del)
Microsatellite
(inframe_deletion)
Leber congenital amaurosis 13
GUncertain significance
CRB1
(T1044N +2 more)
Single nucleotide variant
(missense variant +2 more)
Retinitis pigmentosa 12
+2 more
GUncertain significance
RPE65
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 2
+1 more
GUncertain significance
CEP290
(I2000T)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+2 more
GUncertain significance
CEP290
(A1456T)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+2 more
GUncertain significance
RPE65
(E20K)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 2
+1 more
GUncertain significance
CRB1
(T1116N +2 more)
Single nucleotide variant
(missense variant +2 more)
Retinitis pigmentosa 12
+1 more
GUncertain significance
CEP290
(N914D)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+2 more
GUncertain significance
CEP290
(V1366G)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+2 more
GUncertain significance
CEP290
(T110A)
Single nucleotide variant
(missense variant)
Nephronophthisis
+3 more
GUncertain significance
CEP290
(V705I)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+7 more
GUncertain significance
CEP290
(Q2298R)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+3 more
GUncertain significance
CRB1
(R1262W +3 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 12
+1 more
GUncertain significance
RPE65
(N175S)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 2
+1 more
GUncertain significance
CRB1
(V1213L +2 more)
Single nucleotide variant
(missense variant +2 more)
Retinitis pigmentosa 12
+1 more
GUncertain significance
LCA5
(R174H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CRB1
(F851L +2 more)
Single nucleotide variant
(missense variant +2 more)
Retinitis pigmentosa 12
+1 more
GUncertain significance
CEP290
(S773C)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+9 more
GUncertain significance
CEP290
(Q530R)
Single nucleotide variant
(missense variant)
Familial aplasia of the vermis
+2 more
GUncertain significance
CEP290
(E2329G)
Single nucleotide variant
(missense variant)
Nephronophthisis
+8 more
GUncertain significance
GPHN, RDH12
(A137G)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 13
GUncertain significance
CEP290
(M651T)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+2 more
GUncertain significance
CRB1
(T509I +2 more)
Single nucleotide variant
(missense variant +1 more)
Leber congenital amaurosis 8
+1 more
GUncertain significance
CRB1
(I434V +2 more)
Single nucleotide variant
(missense variant +1 more)
Leber congenital amaurosis 8
+1 more
GUncertain significance
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