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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CRYGC, LOC100507443
Single nucleotide variant
(3 prime UTR variant)
CRYGC-related disorder
GLikely benign
CRYGC, LOC100507443
(A159fs)
Duplication
(frameshift variant)
Nuclear pulverulent cataract
+1 more
GConflicting classifications of pathogenicity
CRYGC, LOC100507443
(Y144*)
Single nucleotide variant
(nonsense)
CRYGC-related disorder
GLikely pathogenic
CRYGC, LOC100507443
(R122H)
Single nucleotide variant
(missense variant)
CRYGC-related disorder
+1 more
GUncertain significance
CRYGC, LOC100507443
(R91W)
Single nucleotide variant
(missense variant)
Nuclear pulverulent cataract
+1 more
GLikely benign
CRYGC, LOC100507443
Single nucleotide variant
(intron variant)
Nuclear pulverulent cataract
+1 more
GBenign
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