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Links from MedGen

Items: 80

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CNGB1
(L956R +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 45
GUncertain significance
CNGB1
(R731H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CNGB1
(T553K +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 45
+1 more
GUncertain significance
CNGB1
(R968W +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CNGB1
(L843fs +1 more)
Deletion
(frameshift variant)
Retinitis pigmentosa 45
+1 more
GPathogenic/Likely pathogenic
CNGB1
(W919* +1 more)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 45
+1 more
GPathogenic
CNGB1
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 45
GBenign
CNGB1
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 45
GBenign
CNGB1
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 45
GBenign
CNGB1
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 45
GBenign
CNGB1
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 45
GBenign
CNGB1
(D693N +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 45
+1 more
GUncertain significance
CNGB1, LOC130059126
Copy number gain
Retinitis pigmentosa 45
GUncertain significance
CNGB1
(S492fs +1 more)
Deletion
(frameshift variant)
Retinitis pigmentosa 45
GPathogenic
CNGB1
(Q855fs +1 more)
Deletion
(frameshift variant)
Retinitis pigmentosa 45
GLikely pathogenic
CNGB1
Single nucleotide variant
(splice donor variant)
Retinitis pigmentosa 45
GLikely pathogenic
CNGB1
(V863fs +1 more)
Duplication
(frameshift variant)
Retinitis pigmentosa 45
GLikely pathogenic
CNGB1
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GLikely pathogenic
CNGB1
(M1I)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 45
+2 more
GUncertain significance
CNGB1
(A547E +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CNGB1
(G848V +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 45
GUncertain significance
CNGB1
(R561W +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 45
+1 more
GUncertain significance
CNGB1
(V37M)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 45
+1 more
GConflicting classifications of pathogenicity
CNGB1
(C621* +1 more)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 45
GLikely pathogenic
CNGB1
(R759C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CNGB1
(M968R +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 45
+1 more
GConflicting classifications of pathogenicity
CNGB1
(R199C +1 more)
Single nucleotide variant
(missense variant)
CNGB1-related disorder
+3 more
GConflicting classifications of pathogenicity
CNGB1
(K581E +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 45
GUncertain significance
CNGB1
(D473G +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 45
GUncertain significance
CNGB1
Deletion
(splice acceptor variant)
Retinitis pigmentosa 45
GLikely pathogenic
CNGB1
(Q325* +1 more)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 45
GLikely pathogenic
CNGB1
(P1176L +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 45
+2 more
GBenign/Likely benign
CNGB1
(A1038fs +1 more)
Deletion
(frameshift variant)
Retinal dystrophy
+2 more
GPathogenic/Likely pathogenic
CNGB1
(W4*)
Single nucleotide variant
(nonsense)
not specified
+3 more
GConflicting classifications of pathogenicity
CNGB1
(C632* +1 more)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa
+2 more
GPathogenic
CNGB1
(R546C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
CNGB1
(A888T +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+2 more
GConflicting classifications of pathogenicity
CNGB1
Single nucleotide variant
(splice acceptor variant)
Retinitis pigmentosa 45
+1 more
GLikely pathogenic
CNGB1
(R756C +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 45
+1 more
GPathogenic
CNGB1
(E272Q +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 45
GUncertain significance
CNGB1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
CNGB1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CNGB1
Single nucleotide variant
(splice acceptor variant)
Retinitis pigmentosa
+3 more
GPathogenic/Likely pathogenic
CNGB1
Single nucleotide variant
(intron variant)
Retinitis pigmentosa
+3 more
GConflicting classifications of pathogenicity
CNGB1
Single nucleotide variant
(splice acceptor variant)
not provided
+3 more
GPathogenic/Likely pathogenic
CNGB1
(R762H +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
CNGB1
Single nucleotide variant
(splice donor variant)
not provided
+3 more
GPathogenic/Likely pathogenic
CNGB1
(Y836* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
CNGB1
(Y921fs +1 more)
Deletion
(frameshift variant)
Retinitis pigmentosa 45
+1 more
GPathogenic/Likely pathogenic
CNGB1
Single nucleotide variant
(intron variant)
not provided
+2 more
GPathogenic/Likely pathogenic
CNGB1
(A78T)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 45
+4 more
GConflicting classifications of pathogenicity
CNGB1
(R100H)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign
CNGB1
Single nucleotide variant
(synonymous variant)
Retinal dystrophy
+3 more
GBenign
CNGB1
Single nucleotide variant
(intron variant)
not specified
+3 more
GConflicting classifications of pathogenicity
CNGB1
Microsatellite
(inframe_insertion)
Retinitis Pigmentosa, Recessive
+2 more
GConflicting classifications of pathogenicity
CNGB1
(L700F +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CNGB1
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa 45
+3 more
GBenign
CNGB1
(R834L +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 45
+2 more
GUncertain significance
CNGB1
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa
+2 more
GConflicting classifications of pathogenicity
CNGB1
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 45
+2 more
GBenign
CNGB1
(S1195C +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+2 more
GConflicting classifications of pathogenicity
CNGB1
(F1045fs +1 more)
Deletion
(frameshift variant)
Retinal dystrophy
+2 more
GPathogenic
CNGB1
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 45
+3 more
GConflicting classifications of pathogenicity
CNGB1
(L849fs +1 more)
Duplication
(frameshift variant)
not provided
+3 more
GPathogenic/Likely pathogenic
CNGB1
(V952M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
CNGB1
(P530R +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CNGB1
Single nucleotide variant
(intron variant)
Retinitis pigmentosa
+3 more
GConflicting classifications of pathogenicity
CNGB1
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa
+3 more
GConflicting classifications of pathogenicity
CNGB1
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign/Likely benign
CNGB1
(D402N +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GBenign/Likely benign
CNGB1
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
CNGB1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
CNGB1
(N986I +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
CNGB1
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 45
+1 more
GPathogenic/Likely pathogenic
CNGB1
(Q318* +1 more)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 45
+2 more
GPathogenic
CNGB1
(L745I +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 45
+4 more
GBenign
CNGB1
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
CNGB1
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa 45
+3 more
GConflicting classifications of pathogenicity
CNGB1
Single nucleotide variant
(splice donor variant)
Retinitis pigmentosa 45
GPathogenic
CNGB1
(G993V +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 45
GPathogenic
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