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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CNGB1
(N986I +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 45
+3 more
GConflicting classifications of pathogenicity
CNGB1
(G871R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CNGB1
(E774K +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CNGB1
(R756C +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 45
+1 more
GPathogenic
CNGB1
Single nucleotide variant
(splice acceptor variant)
Retinitis pigmentosa
+3 more
GPathogenic/Likely pathogenic
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