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Links from MedGen

Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SAG
(V245M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SAG
(V228M)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 47
+2 more
GUncertain significance
SAG
(R70C)
Single nucleotide variant
(missense variant)
Oguchi disease
+4 more
GUncertain significance
SAG
Single nucleotide variant
(intron variant)
Oguchi disease
+4 more
GUncertain significance
SAG
(V378I)
Single nucleotide variant
(missense variant)
Oguchi disease-1
+4 more
GUncertain significance
SAG
(E306*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 47
GPathogenic
SAG
(R193*)
Single nucleotide variant
(nonsense)
Oguchi disease-1
+4 more
GPathogenic
SAG
(N309fs)
Deletion
(frameshift variant)
SAG-Related Disorders
+2 more
GPathogenic
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