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Links from MedGen

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GUCA1B
(A19V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GUCA1B
(T141I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GUCA1B
Single nucleotide variant
(5 prime UTR variant)
not specified
+1 more
GBenign
GUCA1B
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
GUCA1B
(V85M)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 48
+2 more
GBenign/Likely benign
GUCA1B
(G157R)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
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