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Items: 1 to 100 of 184

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130005128, LOC130005129
+723 more
Copy number gain
See cases
GPathogenic
LOC130005123, LOC130005124
+204 more
Copy number gain
See cases
GPathogenic
LOC106799843, LOC106865369
+388 more
Copy number gain
See cases
GPathogenic
LOC106783508, LOC106799843
+271 more
Copy number gain
See cases
GPathogenic
ANO9, AP2A2
+332 more
Copy number gain
See cases
GPathogenic
ANO9, AP2A2
+266 more
Copy number gain
See cases
GPathogenic
A-GAMMA3'E, ABCC8
+917 more
Copy number gain
See cases
GPathogenic
BGLT3, A-GAMMA3'E
+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
(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_indel +1 more)
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
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
GLikely benign
CD151
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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)
not provided
+3 more
GUncertain significance
CD151
(K84N)
Single nucleotide variant
(missense variant)
not provided
GBenign
CD151
(R86H)
Single nucleotide variant
(missense variant)
not provided
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)
not provided
+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
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
(I106M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CD151
(L110V)
Single nucleotide variant
(missense variant)
RAPH BLOOD GROUP SYSTEM
+2 more
GUncertain significance
CD151
Single nucleotide variant
(synonymous variant)
not provided
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
(T120M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD151
(K127Q)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
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
(H139Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+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
(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
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
+2 more
GBenign/Likely benign
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
(R165*)
Single nucleotide variant
(nonsense)
Epidermolysis bullosa simplex 7, with nephropathy and deafness
+1 more
GConflicting classifications of pathogenicity
CD151
(E168K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD151
(E168D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CD151
(R171C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CD151
(R171H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD151
(E174A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD151
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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