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Items: 1 to 100 of 322

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
C9
(K559fs)
Deletion
(frameshift variant)
not provided
+2 more
GUncertain significance
C9
(N557S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C9
(N557fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
C9
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C9
Single nucleotide variant
(intron variant)
not provided
GBenign
C9
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C9
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C9
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C9
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C9
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C9
Single nucleotide variant
(intron variant)
not provided
GBenign
C9
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C9
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
C9
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C9
(K543E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
C9
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C9
(I537V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
C9
(P531S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C9
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C9
(A529T)
Single nucleotide variant
(missense variant)
Age related macular degeneration 15
+2 more
GConflicting classifications of pathogenicity
C9
(C528Y)
Single nucleotide variant
(missense variant)
Complement component 9 deficiency
GPathogenic
C9
(L527fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
C9
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C9
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C9
(F505L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C9
(E504V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C9
(I502T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
C9
(I498V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C9
(A497V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C9
(N493D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C9
(L489fs)
Duplication
(frameshift variant)
not provided
GConflicting classifications of pathogenicity
C9
(H488Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C9
(M484K)
Single nucleotide variant
(missense variant)
Complement component 9 deficiency
+2 more
GConflicting classifications of pathogenicity
C9
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
C9
(I476M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
C9
(I476T)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
C9
(P475L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C9
(S474fs)
Deletion
(frameshift variant)
not provided
GPathogenic
C9
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C9
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C9
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C9
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C9
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
C9
(L468F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
C9
Single nucleotide variant
(synonymous variant)
not provided
GBenign
C9
(V467F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C9
(A465V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C9
(D464E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
C9
(S460Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C9
(W458*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
C9
(D454N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C9
(V449A)
Single nucleotide variant
(missense variant)
Complement component 9 deficiency
+1 more
GUncertain significance
C9
(V449M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C9
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C9
(R446*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
C9
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C9
(K441*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
C9
(L440R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C9
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C9
(I429V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C9
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C9
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C9
(L428F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
C9
(S427*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
C9
(S427T)
Single nucleotide variant
(missense variant)
not provided
GBenign
C9
(V426del)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
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
(D424del)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
C9
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
C9
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C9
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C9
Single nucleotide variant
(splice donor variant)
not provided
GUncertain significance
C9
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C9
(E410Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C9
(D403fs)
Deletion
(frameshift variant)
not provided
GPathogenic/Likely pathogenic
C9
(C405R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C9
(K402E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C9
(N401D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C9
(G397*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
C9
(S395fs)
Microsatellite
(frameshift variant)
Age related macular degeneration 15
+3 more
GPathogenic/Likely pathogenic
C9
(S388Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C9
(H384L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C9
(H384D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
C9
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C9
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C9
(D376A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C9
(K375Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C9
(V372F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C9
(G371A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C9
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C9
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C9
(G371R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C9
(R369Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
C9
(R369W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C9
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C9
(M367V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C9
(A365V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C9
(K364N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C9
(Y360H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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