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Items: 74

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129931453, LOC129931454
+1585 more
Copy number gain
See cases
GPathogenic
ADAM15, ADAM15-EFNA4
+297 more
Copy number gain
See cases
GPathogenic
BCAN, BCAN-AS1
+47 more
Copy number loss
See cases
GLikely pathogenic
BCAN, BCAN-AS1
+6 more
Copy number gain
See cases
GUncertain significance
BCAN, BCAN-AS1
+1 more
(V24A)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GLikely benign
BCAN, BCAN-AS1
+1 more
(R33S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
BCAN, BCAN-AS1
+1 more
(R86W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCAN, BCAN-AS1
+1 more
(G95E)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
BCAN, BCAN-AS1
+1 more
(R97H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCAN, BCAN-AS1
+1 more
(E102Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
BCAN, BCAN-AS1
+1 more
(R105G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
BCAN, BCAN-AS1
+1 more
(P129S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
BCAN-AS1, BCAN
+1 more
(N130K)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
BCAN, BCAN-AS1
+1 more
(C137F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCAN, BCAN-AS1
+1 more
(G142S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
BCAN, BCAN-AS1
+1 more
(A166V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCAN, BCAN-AS1
+1 more
(R167H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCAN, BCAN-AS1
+1 more
(A169T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCAN, BCAN-AS1
+1 more
(P242L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCAN, BCAN-AS1
+1 more
(A357V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCAN, BCAN-AS1
+1 more
(A361T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCAN, BCAN-AS1
+1 more
(S366A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCAN, BCAN-AS1
+1 more
(D375N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCAN, BCAN-AS1
+1 more
(D375H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCAN, BCAN-AS1
+1 more
(T384R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCAN, BCAN-AS1
+1 more
(R402C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCAN, BCAN-AS1
+1 more
(R402H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCAN, BCAN-AS1
+1 more
(S418N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCAN, BCAN-AS1
+1 more
(T420A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCAN, BCAN-AS1
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCAN, BCAN-AS1
+1 more
(E473V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCAN, BCAN-AS1
+1 more
(E485K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCAN, BCAN-AS1
+1 more
(L486F)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
BCAN, BCAN-AS1
+1 more
(S488T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCAN, BCAN-AS1
+1 more
(P489L)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
BCAN, BCAN-AS1
+1 more
(T497S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCAN, BCAN-AS1
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BCAN, BCAN-AS1
+1 more
(G566E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCAN, BCAN-AS1
+1 more
(G571S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCAN, BCAN-AS1
+1 more
(P578S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCAN, BCAN-AS1
+1 more
(P578R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCAN, BCAN-AS1
+1 more
(T585A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCAN, BCAN-AS1
+1 more
(E589K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCAN, BCAN-AS1
+1 more
(A591T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCAN, BCAN-AS1
+1 more
(S593F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCAN, BCAN-AS1
+1 more
(L595I)
Single nucleotide variant
(missense variant)
not provided
GBenign
BCAN, BCAN-AS1
+1 more
(R599W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCAN, BCAN-AS1
+1 more
(R599Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCAN, BCAN-AS1
+1 more
(V625L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCAN, BCAN-AS1
+1 more
(P629T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCAN, BCAN-AS1
+1 more
(V643M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCAN, BCAN-AS1
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GBenign
BCAN, BCAN-AS1
+1 more
(R669C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCAN, BCAN-AS1
+1 more
(R669H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCAN, BCAN-AS1
+1 more
(D679H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCAN, BCAN-AS1
+1 more
(R706L)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
BCAN, BCAN-AS1
+1 more
(S727R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCAN, BCAN-AS1
+1 more
(D749N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCAN, BCAN-AS1
+1 more
(R750G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCAN, BCAN-AS1
+1 more
(M787T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCAN-AS1, BCAN
+1 more
(D791N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCAN, BCAN-AS1
+1 more
(P817L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCAN, BCAN-AS1
+1 more
(P819L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCAN, BCAN-AS1
+1 more
(G828S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCAN, BCAN-AS1
+1 more
(P830R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCAN, BCAN-AS1
+1 more
(R833H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCAN, BCAN-AS1
+1 more
(V839L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCAN-AS1, BCAN-AS2
+1 more
(L840F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCAN, BCAN-AS1
+1 more
(E860K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCAN, BCAN-AS1
+1 more
(E865G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCAN, BCAN-AS1
+1 more
(P876R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCAN, BCAN-AS1
+1 more
(H881Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCAN, BCAN-AS1
+1 more
(R896H)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
BCAN, BCAN-AS1
+1 more
(A899T)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
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