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Items: 1 to 100 of 196

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CEP97, LOC129937160
(R5L)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CEP97, LOC129937160
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CEP97, LOC129937160
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CEP97, LOC129937160
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CEP97, LOC129937160
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CEP97
Single nucleotide variant
(intron variant)
not provided
GBenign
CEP97
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CEP97
(P30T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CEP97
(A36fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
CEP97
(H39Q)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
CEP97
(R59Q)
Single nucleotide variant
(missense variant)
not provided
GBenign
CEP97
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CEP97
Insertion
(intron variant)
not provided
GLikely benign
CEP97
Microsatellite
(intron variant)
not provided
GBenign
CEP97
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CEP97
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
CEP97
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
CEP97
(R72W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CEP97
(A77V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CEP97
(T80M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CEP97
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CEP97
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CEP97
(P88L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CEP97
(H89Y)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CEP97
(H103Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CEP97
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CEP97
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CEP97
Microsatellite
(splice donor variant)
not provided
GUncertain significance
CEP97
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CEP97
Deletion
(intron variant)
not provided
GLikely benign
CEP97
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CEP97
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
CEP97
(L127F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CEP97
(S171G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CEP97
(I140V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CEP97
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CEP97
(L143* +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
CEP97
(A144T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CEP97
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CEP97
(D184N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CEP97
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CEP97
(S167L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CEP97
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CEP97
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CEP97
(I180T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CEP97
(Y219C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CEP97
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CEP97
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CEP97
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CEP97
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CEP97
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CEP97
(I204T +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CEP97
Deletion
(intron variant)
not provided
GLikely benign
CEP97
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CEP97
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CEP97
(R225W +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CEP97
(R225Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CEP97
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CEP97
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CEP97
(H229N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CEP97
(V233F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CEP97
(L270P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CEP97
(A237T +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CEP97
(T243S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CEP97
(L246P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CEP97
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
CEP97
(A251T +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CEP97
(S261N +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CEP97
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CEP97
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CEP97
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CEP97
(H266Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CEP97
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CEP97
(M271I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CEP97
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CEP97
(V319L)
Single nucleotide variant
(missense variant)
not provided
GBenign
CEP97
(R288G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CEP97
(C302R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CEP97
(Q337P +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CEP97
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CEP97
(P310L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CEP97
(S356C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CEP97
(D358A +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CEP97
(Q360R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CEP97
(A363V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CEP97
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
CEP97
(K365R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CEP97
(S337P +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CEP97
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CEP97
(T341M +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CEP97
(L399F)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
CEP97
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CEP97
(S401A +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CEP97
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CEP97
(V349F +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CEP97
(P358S +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CEP97
(G332V +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CEP97
(L369V +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
CEP97
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CEP97
(D403V +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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