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Links from MedGen

Items: 56

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RP1L1
Deletion
(inframe_deletion)
not provided
+2 more
GBenign/Likely benign
RP1L1
(Q135*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GConflicting classifications of pathogenicity
RP1L1
(E794*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 88
GLikely pathogenic
RP1L1
(L68F)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
RP1L1
(K111fs)
Duplication
(frameshift variant)
Retinitis pigmentosa 88
+1 more
GConflicting classifications of pathogenicity
RP1L1
(R822*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 88
GPathogenic
RP1L1
(R152Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
RP1L1
(E1340fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 88
GPathogenic
RP1L1
(L2177*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 88
GPathogenic
RP1L1
(D66H)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 88
GLikely pathogenic
RP1L1
(R342fs)
Indel
(frameshift variant)
Retinitis pigmentosa 88
GLikely pathogenic
RP1L1
(C1068Y)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 88
GUncertain significance
RP1L1
(A907V)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 88
GUncertain significance
RP1L1
(V1977L)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 88
GUncertain significance
RP1L1
(V1977I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
RP1L1
(S564C)
Single nucleotide variant
(missense variant)
Occult macular dystrophy
+1 more
GBenign/Likely benign
RP1L1
(S484fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 88
+1 more
GPathogenic/Likely pathogenic
RP1L1
(R397*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 88
+2 more
GPathogenic/Likely pathogenic
RP1L1
(W369*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 88
+3 more
GConflicting classifications of pathogenicity
RP1L1
Microsatellite
(inframe_insertion)
Retinitis pigmentosa 88
+1 more
GPathogenic
RP1L1
(P19H)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 88
GPathogenic
RP1L1
(Q1824*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 88
GPathogenic
RP1L1
(Q1008*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
RP1L1
(V1336fs)
Insertion
(frameshift variant)
Retinitis pigmentosa 88
+1 more
GConflicting classifications of pathogenicity
RP1L1
(G1711A)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
RP1L1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
RP1L1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
RP1L1
(H222P)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
RP1L1
(N282H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
RP1L1
Single nucleotide variant
(synonymous variant)
Occult macular dystrophy
+1 more
GBenign/Likely benign
RP1L1
(R493Q)
Single nucleotide variant
(missense variant)
Occult macular dystrophy
+1 more
GBenign
RP1L1
(G514S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
RP1L1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
RP1L1
(L792P)
Single nucleotide variant
(missense variant)
Occult macular dystrophy
+1 more
GBenign
RP1L1
Single nucleotide variant
(synonymous variant)
Occult macular dystrophy
+1 more
GBenign/Likely benign
RP1L1
Single nucleotide variant
(synonymous variant)
Occult macular dystrophy
+1 more
GBenign/Likely benign
RP1L1
(R1146W)
Single nucleotide variant
(missense variant)
Occult macular dystrophy
+2 more
GBenign
RP1L1
(A1319T)
Single nucleotide variant
(missense variant)
Occult macular dystrophy
+3 more
GBenign/Likely benign
RP1L1
(A1319G)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 88
+2 more
GBenign
RP1L1
(E1324G)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
RP1L1
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa 88
+1 more
GBenign
RP1L1
(R1467S)
Single nucleotide variant
(missense variant)
Occult macular dystrophy
+1 more
GBenign
RP1L1
Single nucleotide variant
(synonymous variant)
Occult macular dystrophy
+1 more
GBenign/Likely benign
RP1L1
(P1495R)
Single nucleotide variant
(missense variant)
Occult macular dystrophy
+2 more
GBenign
RP1L1
(D1889V)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 88
+2 more
GBenign
RP1L1
(Q1941*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 88
+3 more
GConflicting classifications of pathogenicity
RP1L1
(A1946E)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 88
+1 more
GBenign
RP1L1
(T1954A)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 88
+2 more
GBenign
RP1L1
(E2070V)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 88
+1 more
GBenign
RP1L1
(Q2088H)
Single nucleotide variant
(missense variant)
Occult macular dystrophy
+1 more
GBenign
RP1L1
(E2140K)
Single nucleotide variant
(missense variant)
Occult macular dystrophy
+1 more
GBenign
RP1L1
(E2171K)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 88
+2 more
GBenign
RP1L1
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa 88
+2 more
GBenign
RP1L1
(G2285R)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 88
+2 more
GBenign
RP1L1
(K203fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 88
GPathogenic
RP1L1
(R45W)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
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