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Links from MedGen

Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CRYGC, LOC100507443
(N50S)
Single nucleotide variant
(missense variant)
Cataract 2, multiple types
GUncertain significance
CRYGC, LOC100507443
(E135K)
Single nucleotide variant
(missense variant)
Cataract 2, multiple types
GUncertain significance
CRYGC, LOC100507443
(V132fs)
Deletion
(frameshift variant)
Cataract 2, multiple types
GPathogenic
CRYGC, LOC100507443
(R142fs)
Deletion
(frameshift variant)
Cataract 2, multiple types
GPathogenic
CRYGC, LOC100507443
(S166F)
Single nucleotide variant
(missense variant)
Developmental cataract
+1 more
GPathogenic
CRYGC, LOC100507443
(G129C)
Single nucleotide variant
(missense variant)
Cataract 2, multiple types
GPathogenic
CRYGC, LOC100507443
(W157*)
Single nucleotide variant
(nonsense)
Cataract 2, multiple types
GPathogenic
CRYGC, LOC100507443
(W157*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CRYGC, LOC100507443
(R168W)
Single nucleotide variant
(missense variant)
Cataract 2, multiple types
+1 more
GConflicting classifications of pathogenicity
CRYGC, LOC100507443
(C42fs)
Duplication
(frameshift variant)
Cataract 2, multiple types
GPathogenic
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