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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GNB3
(S67F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNB3
(K57del)
Deletion
(inframe_deletion)
Congenital stationary night blindness 1H
GPathogenic
CDCA3, GNB3
(W339* +2 more)
Single nucleotide variant
(nonsense +1 more)
Congenital stationary night blindness 1H
GPathogenic
CDCA3, GNB3
Single nucleotide variant
(synonymous variant +1 more)
Congenital stationary night blindness 1H
+1 more
GBenign
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