U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 41

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CRYBA1
Single nucleotide variant
(intron variant)
Cataract 10 multiple types
GLikely benign
CRYBA1
(T34I)
Single nucleotide variant
(missense variant)
Cataract 10 multiple types
GUncertain significance
CRYBA1
Single nucleotide variant
(intron variant)
Cataract 10 multiple types
GUncertain significance
CRYBA1
(A104T)
Single nucleotide variant
(missense variant)
Cataract 10 multiple types
GUncertain significance
CRYBA1
(I116V)
Single nucleotide variant
(missense variant)
Cataract 10 multiple types
GBenign
CRYBA1
Deletion
(splice acceptor variant)
Cataract 10 multiple types
GLikely pathogenic
CRYBA1
Single nucleotide variant
(intron variant)
Cataract 10 multiple types
GLikely benign
CRYBA1
Single nucleotide variant
(intron variant)
Cataract 10 multiple types
GLikely benign
CRYBA1
Single nucleotide variant
(intron variant)
Cataract 10 multiple types
GBenign
CRYBA1
Single nucleotide variant
(synonymous variant)
Cataract 10 multiple types
GLikely benign
CRYBA1
(R58H)
Single nucleotide variant
(missense variant)
Cataract 10 multiple types
GLikely benign
CRYBA1
Deletion
Cataract 10 multiple types
GUncertain significance
CRYBA1
(L183S)
Single nucleotide variant
(missense variant)
Cataract 10 multiple types
GUncertain significance
CRYBA1
(P115L)
Single nucleotide variant
(missense variant)
Cataract 10 multiple types
GUncertain significance
CRYBA1
(Q164fs)
Deletion
(frameshift variant)
Cataract 10 multiple types
GUncertain significance
CRYBA1
(L183*)
Single nucleotide variant
(nonsense)
Cataract 10 multiple types
GUncertain significance
CRYBA1
Single nucleotide variant
(splice donor variant)
Cataract 10 multiple types
GUncertain significance
CRYBA1
(F86fs)
Deletion
(frameshift variant)
Cataract 10 multiple types
GLikely pathogenic
CRYBA1
(S209W)
Single nucleotide variant
(missense variant)
Cataract 10 multiple types
GLikely pathogenic
CRYBA1
Single nucleotide variant
(synonymous variant)
Cataract 10 multiple types
GBenign
CRYBA1
Single nucleotide variant
(synonymous variant)
Cataract 10 multiple types
GBenign
CRYBA1
Single nucleotide variant
(synonymous variant)
Cataract 10 multiple types
GLikely benign
CRYBA1
(N155S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
CRYBA1
Single nucleotide variant
(intron variant)
Cataract 10 multiple types
GLikely benign
CRYBA1
Single nucleotide variant
(splice donor variant)
Cataract 10 multiple types
GPathogenic
CRYBA1
(E123K)
Single nucleotide variant
(missense variant)
Cataract 10 multiple types
GUncertain significance
CRYBA1
(N155K)
Single nucleotide variant
(missense variant)
Cataract 10 multiple types
GUncertain significance
CRYBA1
(L66R)
Single nucleotide variant
(missense variant)
Cataract 10 multiple types
GUncertain significance
CRYBA1
(P30L)
Single nucleotide variant
(missense variant)
Cataract 10 multiple types
GBenign
CRYBA1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
CRYBA1
(E197fs)
Microsatellite
(frameshift variant)
Cataract 10 multiple types
GUncertain significance
CRYBA1
Single nucleotide variant
(splice donor variant)
Cataract 10 multiple types
GPathogenic
CRYBA1
(Q203fs)
Deletion
(frameshift variant)
Cataract 10 multiple types
GPathogenic
CRYBA1
Single nucleotide variant
(splice donor variant)
Inborn genetic diseases
+2 more
GPathogenic
CRYBA1
Deletion
(inframe_deletion)
Cataract 10 multiple types
GLikely pathogenic
CRYBA1
(G91del)
Microsatellite
(inframe_deletion)
not provided
+1 more
GPathogenic/Likely pathogenic
CRYBA1
(P25L)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
CRYBA1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
CRYBA1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
CRYBA1
Single nucleotide variant
(splice donor variant)
Cataract 10 multiple types
GLikely pathogenic
CRYBA1
(G159S)
Single nucleotide variant
(missense variant)
Cataract 10 multiple types
+1 more
GBenign/Likely benign
Format
Items per page
Sort by
Choose Destination