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Items: 1 to 100 of 116

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABTB2, ANO3
+283 more
Copy number loss
See cases
GPathogenic
PAX6_HS3, PAX6_HS8
+334 more
Copy number loss
See cases
GPathogenic
LOC129390275, LOC129390276
+255 more
Copy number loss
See cases
GPathogenic
CD59
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CD59
(P128S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD59
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CD59
(A121S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD59
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CD59
(L115del)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
CD59
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CD59
(K110Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD59
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CD59
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CD59
(T105P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CD59
(E101A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD59
(E101K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD59
(L100R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD59
(L100F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD59
(F96fs)
Deletion
(frameshift variant)
Primary CD59 deficiency
GUncertain significance
CD59
(E98Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD59
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CD59
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CD59
(F96L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD59
(F96fs)
Deletion
(frameshift variant)
not specified
GUncertain significance
CD59
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CD59
(C89Y)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
CD59
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CD59
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CD59
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CD59
(T85M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD59
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CD59
(L84Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD59
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CD59
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CD59
(R78P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD59
(R78C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD59
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CD59
(V75I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD59
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CD59
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CD59
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CD59
(C64G)
Single nucleotide variant
(missense variant)
Primary CD59 deficiency
GUncertain significance
CD59
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CD59
(N62fs)
Microsatellite
(frameshift variant)
not provided
GLikely pathogenic
CD59
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CD59
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
CD59
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CD59
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CD59
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CD59
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CD59
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CD59
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CD59
Microsatellite
(intron variant)
not provided
GLikely benign
CD59
Deletion
(intron variant)
not provided
GLikely benign
CD59
Deletion
(intron variant)
not provided
GLikely benign
CD59
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CD59
Deletion
(intron variant)
not provided
GLikely benign
CD59
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CD59
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CD59
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CD59
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CD59
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CD59
(A50V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD59
(D49fs)
Deletion
(frameshift variant)
Primary CD59 deficiency
GPathogenic
CD59
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CD59
(N43S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CD59
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CD59
(V42I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD59
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CD59
(V42fs)
Deletion
(frameshift variant)
Primary CD59 deficiency
GPathogenic
CD59
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CD59
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CD59
(N33T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CD59
(N30S)
Single nucleotide variant
(missense variant)
CD59-related disorder
GUncertain significance
CD59
(Y29D)
Single nucleotide variant
(missense variant)
Primary CD59 deficiency
GUncertain significance
CD59
(C28Y)
Single nucleotide variant
(missense variant)
Primary CD59 deficiency
GLikely pathogenic
CD59
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CD59
(H24R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CD59
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CD59
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CD59
Deletion
(intron variant)
not provided
GLikely benign
CD59
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CD59
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CD59
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CD59
(V18G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD59
(V18I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD59
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CD59
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CD59
(V15I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
CD59
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CD59
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CD59
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CD59
(G11R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD59
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CD59
(V8A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD59
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CD59
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CD59
(M1V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ABTB2, APIP
+40 more
Copy number loss
not provided
GPathogenic
MAML2, MAP3K11
+955 more
Copy number gain
MISSED ABORTION
GPathogenic
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