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Items: 1 to 100 of 203

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IL17RA, LINC01640
+2088 more
Copy number gain
See cases
GPathogenic
LOC130067403, LOC130067404
+2088 more
Copy number gain
See cases
GPathogenic
ADORA2A, ADORA2A-AS1
+798 more
Copy number gain
See cases
GPathogenic
ADORA2A, ADORA2A-AS1
+823 more
Copy number gain
See cases
GPathogenic
LOC130067187, LOC130067188
+556 more
Copy number gain
See cases
GPathogenic
LOC130067151, LOC130067152
+119 more
Copy number loss
See cases
GLikely pathogenic
ASPHD2, CPMER
+85 more
Copy number loss
See cases
GUncertain significance
AP1B1, ASPHD2
+122 more
Copy number loss
See cases
GPathogenic
AP1B1, ASCC2
+260 more
Copy number loss
See cases
GPathogenic
CRYBA4, CRYBB1
+34 more
Copy number loss
See cases
GUncertain significance
CRYBA4, CRYBB1
Single nucleotide variant
(3 prime UTR variant)
Cataract 17 multiple types
GUncertain significance
CRYBA4, CRYBB1
Single nucleotide variant
(3 prime UTR variant)
CRYBB1-related disorder
GLikely benign
CRYBA4, CRYBB1
Single nucleotide variant
(stop lost)
Cataract 17 multiple types
GUncertain significance
CRYBA4, CRYBB1
(K252fs)
Duplication
(frameshift variant)
Cataract 17 multiple types
GUncertain significance
CRYBA4, CRYBB1
Single nucleotide variant
(synonymous variant)
Cataract 17 multiple types
GConflicting classifications of pathogenicity
CRYBA4, CRYBB1
Single nucleotide variant
(synonymous variant)
Cataract 17 multiple types
GLikely benign
CRYBB1, CRYBA4
(H238fs)
Duplication
(frameshift variant)
Cataract 17 multiple types
GUncertain significance
CRYBA4, CRYBB1
(R233H)
Single nucleotide variant
(missense variant)
Cataract 17 multiple types
GLikely pathogenic
CRYBA4, CRYBB1
(R233C)
Single nucleotide variant
(missense variant)
Cataract 17 multiple types
+1 more
GUncertain significance
CRYBA4, CRYBB1
(R231H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CRYBA4, CRYBB1
(R231C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CRYBA4, CRYBB1
(R230S)
Single nucleotide variant
(missense variant)
Cataract 17 multiple types
GUncertain significance
CRYBA4, CRYBB1
(S228Y)
Single nucleotide variant
(missense variant)
Cataract 17 multiple types
+1 more
GLikely pathogenic
CRYBA4, CRYBB1
(G220*)
Single nucleotide variant
(nonsense)
Cataract 17 multiple types
GPathogenic
CRYBA4, CRYBB1
(R214W)
Single nucleotide variant
(missense variant)
Cataract 17 multiple types
GUncertain significance
CRYBA4, CRYBB1
(G203R)
Single nucleotide variant
(missense variant)
Cataract 17 multiple types
GUncertain significance
CRYBA4, CRYBB1
(Y196fs)
Deletion
(frameshift variant)
Cataract 17 multiple types
GPathogenic
CRYBA4, CRYBB1
Single nucleotide variant
(intron variant)
Cataract 17 multiple types
GUncertain significance
CRYBA4, CRYBB1
Insertion
(intron variant)
Schizophrenia
GUncertain significance
CRYBA4, CRYBB1
Single nucleotide variant
(intron variant)
not provided
GBenign
CRYBA4, CRYBB1
(R182H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CRYBA4, CRYBB1
(Y177H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
CRYBA4, CRYBB1
(A171V)
Single nucleotide variant
(missense variant)
Cataract 17 multiple types
GUncertain significance
CRYBA4, CRYBB1
Single nucleotide variant
(synonymous variant)
Cataract 17 multiple types
GLikely benign
CRYBA4, CRYBB1
(D170H)
Single nucleotide variant
(missense variant)
Cataract 17 multiple types
GUncertain significance
CRYBA4, CRYBB1
Single nucleotide variant
(synonymous variant)
Cataract 17 multiple types
GLikely benign
CRYBA4, CRYBB1
(K150N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CRYBA4, CRYBB1
(K150E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CRYBA4, CRYBB1
Duplication
(intron variant)
not provided
GBenign
CRYBA4, CRYBB1
Duplication
(intron variant)
not provided
GBenign
CRYBB1, CRYBA4
Deletion
(intron variant)
not provided
GBenign
CRYBA4, CRYBB1
Deletion
(intron variant)
not provided
GLikely benign
CRYBA4, CRYBB1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CRYBA4, CRYBB1
Single nucleotide variant
(intron variant)
Cataract 17 multiple types
+1 more
GBenign/Likely benign
CRYBA4, CRYBB1
Single nucleotide variant
(intron variant)
Cataract 17 multiple types
+1 more
GUncertain significance
CRYBA4, CRYBB1
(K143E)
Single nucleotide variant
(missense variant)
Cataract 17 multiple types
GUncertain significance
CRYBA4, CRYBB1
(R140Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CRYBB1, CRYBA4
(R140P)
Single nucleotide variant
(missense variant)
Cataract 17 multiple types
GLikely pathogenic
CRYBA4, CRYBB1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
CRYBA4, CRYBB1
(R132C)
Single nucleotide variant
(missense variant)
Cataract 17 multiple types
GUncertain significance
CRYBA4, CRYBB1
(R132G)
Single nucleotide variant
(missense variant)
Cataract 17 multiple types
GUncertain significance
CRYBA4, CRYBB1
(S130T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CRYBA4, CRYBB1
(S129R)
Single nucleotide variant
(missense variant)
Cataract 17 multiple types
GPathogenic
CRYBB1, CRYBA4
Single nucleotide variant
(synonymous variant)
Cataract 17 multiple types
GConflicting classifications of pathogenicity
CRYBA4, CRYBB1
(R123H)
Single nucleotide variant
(missense variant)
Developmental cataract
GLikely pathogenic
CRYBA4, CRYBB1
(E120K)
Single nucleotide variant
(missense variant)
Cataract 17 multiple types
GUncertain significance
CRYBA4, CRYBB1
Single nucleotide variant
(synonymous variant)
Cataract 17 multiple types
GUncertain significance
CRYBA4, CRYBB1
(R110C)
Single nucleotide variant
(missense variant)
Cataract 17 multiple types
+1 more
GBenign
CRYBA4, CRYBB1
(F109L)
Single nucleotide variant
(missense variant)
Cataract 17 multiple types
+1 more
GConflicting classifications of pathogenicity
CRYBA4, CRYBB1
(A103P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CRYBA4, CRYBB1
(V102A)
Single nucleotide variant
(missense variant)
Cataract 17 multiple types
GUncertain significance
CRYBA4, CRYBB1
Single nucleotide variant
(synonymous variant)
Cataract 17 multiple types
GUncertain significance
CRYBA4, CRYBB1
Single nucleotide variant
(intron variant)
Cataract 17 multiple types
GUncertain significance
CRYBA4, CRYBB1
Single nucleotide variant
(intron variant)
not provided
GBenign
CRYBA4, CRYBB1
Single nucleotide variant
(intron variant)
not provided
GBenign
CRYBA4, CRYBB1
Single nucleotide variant
(intron variant)
not provided
GBenign
CRYBA4, CRYBB1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
CRYBB1, CRYBA4
Single nucleotide variant
(synonymous variant)
Cataract 17 multiple types
GUncertain significance
CRYBA4, CRYBB1
(A98E)
Single nucleotide variant
(missense variant)
Cataract 17 multiple types
+1 more
GUncertain significance
CRYBA4, CRYBB1
(A98T)
Single nucleotide variant
(missense variant)
Cataract 17 multiple types
GUncertain significance
CRYBA4, CRYBB1
Single nucleotide variant
(synonymous variant)
Cataract 17 multiple types
GUncertain significance
CRYBA4, CRYBB1
(I94N)
Single nucleotide variant
(missense variant)
Developmental cataract
GUncertain significance
CRYBA4, CRYBB1
(R92H)
Single nucleotide variant
(missense variant)
Cataract 17 multiple types
GUncertain significance
CRYBA4, CRYBB1
(R92C)
Single nucleotide variant
(missense variant)
Cataract 17 multiple types
GUncertain significance
CRYBA4, CRYBB1
(R86C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CRYBA4, CRYBB1
(A84E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CRYBA4, CRYBB1
Single nucleotide variant
(synonymous variant)
Cataract 17 multiple types
GUncertain significance
CRYBA4, CRYBB1
(R73*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GUncertain significance
CRYBA4, CRYBB1
(G71S)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
CRYBA4, CRYBB1
(R60T)
Single nucleotide variant
(missense variant)
Cataract 17 multiple types
GConflicting classifications of pathogenicity
CRYBA4, CRYBB1
(N58fs)
Deletion
(frameshift variant)
Cataract 17
+2 more
GPathogenic/Likely pathogenic
CRYBA4, CRYBB1
Single nucleotide variant
(synonymous variant)
Cataract 17 multiple types
GConflicting classifications of pathogenicity
CRYBA4, CRYBB1
(A52E)
Single nucleotide variant
(missense variant)
Cataract 17 multiple types
GLikely benign
CRYBA4, CRYBB1
(T42K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CRYBA4, CRYBB1
(L39Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CRYBA4, CRYBB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CRYBA4, CRYBB1
(A26P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CRYBA4, CRYBB1
(G25E)
Single nucleotide variant
(missense variant)
Cataract 17 multiple types
GLikely benign
CRYBA4, CRYBB1
(G23R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CRYBA4, CRYBB1
(K22R)
Single nucleotide variant
(missense variant)
CRYBB1-related disorder
GUncertain significance
CRYBA4, CRYBB1
Single nucleotide variant
(synonymous variant)
Cataract 17 multiple types
GUncertain significance
CRYBA4, CRYBB1
(V13M)
Single nucleotide variant
(missense variant)
Cataract 17 multiple types
GUncertain significance
CRYBA4, CRYBB1
Single nucleotide variant
(synonymous variant)
CRYBB1-related disorder
GLikely benign
CRYBA4, CRYBB1
(S10W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CRYBA4, CRYBB1
(A5T)
Single nucleotide variant
(missense variant)
Cataract 17 multiple types
GUncertain significance
CRYBA4, CRYBB1
(M1K)
Single nucleotide variant
(missense variant +1 more)
Cataract 17 multiple types
GLikely pathogenic
CRYBA4, CRYBB1
Single nucleotide variant
(5 prime UTR variant)
Cataract 17 multiple types
GUncertain significance
CRYBA4, CRYBB1
Single nucleotide variant
(5 prime UTR variant)
Cataract 17 multiple types
GUncertain significance
CRYBA4, CRYBB1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CRYBA4, CRYBB1
Single nucleotide variant
(intron variant)
not provided
GBenign
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