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Items: 1 to 100 of 193

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DENND5A, DNHD1
+723 more
Copy number gain
See cases
GPathogenic
ANO9, AP2A2
+204 more
Copy number gain
See cases
GPathogenic
A-GAMMA3'E, ANO9
+388 more
Copy number gain
See cases
GPathogenic
ANO9, AP2A2
+271 more
Copy number gain
See cases
GPathogenic
LOC130005164, LOC130005165
+332 more
Copy number gain
See cases
GPathogenic
ANO9, AP2A2
+266 more
Copy number gain
See cases
GPathogenic
TRIM22, TRIM3
+917 more
Copy number gain
See cases
GPathogenic
ASCL2, BGLT3
+328 more
Deletion
Thalassemia, gamma-delta-beta
GPathogenic
AP2A2, BRSK2
+115 more
Copy number loss
See cases
GPathogenic
CD151
Single nucleotide variant
(intron variant)
not provided
GBenign
CD151
Single nucleotide variant
(intron variant)
not provided
GBenign
CD151
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CD151
Single nucleotide variant
(intron variant)
not provided
GBenign
CD151
Single nucleotide variant
(intron variant)
not provided
GBenign
CD151
Single nucleotide variant
(intron variant)
Epidermolysis bullosa simplex 7, with nephropathy and deafness
+2 more
GLikely benign
CD151
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CD151
(E6K)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CD151
(K7*)
Single nucleotide variant
(nonsense)
Epidermolysis bullosa simplex 7, with nephropathy and deafness
GPathogenic
CD151
(K8T)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
CD151
(T10del)
Deletion
(inframe_deletion)
not provided
GUncertain significance
CD151
(V14L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD151
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CD151
Single nucleotide variant
(intron variant)
not provided
GBenign/Likely benign
CD151
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CD151
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CD151
Duplication
(intron variant)
not provided
GLikely benign
CD151
Microsatellite
(intron variant)
not provided
GBenign/Likely benign
CD151
Microsatellite
(intron variant)
not provided
GLikely benign
CD151
Microsatellite
(intron variant)
not provided
GLikely benign
CD151
Single nucleotide variant
(intron variant)
not provided
GBenign
CD151
(M35T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD151
(L44F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD151
(I49V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CD151
(S50T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD151
(G55D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD151
(Y62C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD151
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CD151
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CD151
(G68S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD151
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
CD151
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CD151
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CD151
(V71I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD151
(M72T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD151
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
CD151
(A81T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
CD151
(K84R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD151
(K84N)
Single nucleotide variant
(missense variant)
not provided
GBenign
CD151
(R86C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD151
(R86H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CD151
(R87G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD151
(R87L)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CD151
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CD151
(R91C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD151
(R91H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD151
Single nucleotide variant
(intron variant)
Epidermolysis bullosa simplex 7, with nephropathy and deafness
+2 more
GLikely benign
CD151
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CD151
Deletion
(intron variant)
not provided
GBenign
CD151
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CD151
Duplication
(intron variant)
not provided
GBenign/Likely benign
CD151
Deletion
(intron variant)
not provided
GBenign
CD151
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CD151
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CD151
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CD151
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CD151
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CD151
(L98del)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
CD151
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
CD151
(I99L)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex 7, with nephropathy and deafness
+3 more
GUncertain significance
CD151
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
CD151
(I106M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CD151
(L110F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD151
(L110V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CD151
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CD151
Single nucleotide variant
(synonymous variant)
CD151-related disorder
GLikely benign
CD151
(Y115H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD151
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CD151
(Q117*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
CD151
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CD151
Single nucleotide variant
(intron variant)
not provided
GBenign
CD151
Single nucleotide variant
(intron variant)
not provided
GBenign
CD151
Single nucleotide variant
(intron variant)
not provided
GBenign
CD151
Single nucleotide variant
(intron variant)
not provided
GBenign
CD151
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CD151
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CD151
(T120M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD151
(K127Q)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
CD151
(D128fs)
Duplication
(frameshift variant)
Epidermolysis bullosa simplex 7, with nephropathy and deafness
GPathogenic
CD151
(R133H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD151
(Y134N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD151
(P137L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD151
(H139Y)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CD151
(H139L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD151
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CD151
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CD151
(A145T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD151
Single nucleotide variant
(synonymous variant)
CD151-related disorder
GLikely benign
CD151
(D147N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CD151
Single nucleotide variant
(intron variant)
not provided
+2 more
GLikely benign
CD151
Single nucleotide variant
(intron variant)
not provided
GLikely benign
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