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Items: 36

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
C9
(K543E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
C9
(I537V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
C9
(I502T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
C9
(I476M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
C9
(L468F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
C9
(D464E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
C9
(L428F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
C9
(V425A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
C9
(V425I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
C9
(H384D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
C9
(R369Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
C9
(T328N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
C9
(V320A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
C9
(T318I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
C9
(D312G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
C9
(M293V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
C9
(K289M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
C9
(L284M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
C9
(F243C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
C9
(H216R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
C9
(E215K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
C9
(K210E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
C9
(V199L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
C9
(L190V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
C9
(S169N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
C9
(G157V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
C9
(R154Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
C9
(R139H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
C9
(D124E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
C9
(T109I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
C9
(D96V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
C9
(D55E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
C9
(P47L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
C9
(E30K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
C9
(S26G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
C9
(R5Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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