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Items: 1 to 100 of 140

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PROSER2-AS1, PRPF18
+680 more
Copy number loss
See cases
GPathogenic
MIR5699, MIR6072
+496 more
Copy number gain
See cases
GPathogenic
ADARB2, ADARB2-AS1
+54 more
Copy number loss
See cases
GPathogenic
ADARB2, ADARB2-AS1
+276 more
Copy number loss
See cases
GPathogenic
LOC126860819, LOC126860820
+680 more
Copy number gain
See cases
GPathogenic
LOC130003277, LOC130003278
+520 more
Copy number loss
See cases
GPathogenic
LOC132090805, MANCR
+482 more
Copy number gain
See cases
GPathogenic
ADARB2, ADARB2-AS1
+66 more
Copy number loss
See cases
GPathogenic
ACBD7, ACBD7-DCLRE1CP1
+837 more
Copy number gain
See cases
GPathogenic
ADARB2, ADARB2-AS1
+71 more
Copy number loss
See cases
GLikely pathogenic
LOC130003153, LOC130003154
+421 more
Copy number gain
See cases
GPathogenic
ADARB2, ADARB2-AS1
+298 more
Copy number gain
See cases
GPathogenic
ADARB2, ADARB2-AS1
+352 more
Copy number gain
See cases
GPathogenic
ADARB2, ADARB2-AS1
+86 more
Copy number loss
See cases
GUncertain significance
ADARB2, GTPBP4
+27 more
Copy number gain
See cases
GUncertain significance
ADARB2, GTPBP4
+25 more
Copy number gain
See cases
GUncertain significance
ADARB2, ADARB2-AS1
+37 more
Copy number gain
See cases
GLikely benign
ADARB2, ADARB2-AS1
+10 more
Copy number gain
See cases
GUncertain significance
ADARB2
(Q734L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
(P730S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
(G702R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
(G690R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
(R685Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
(R677Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
(R677W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
(R674Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
(K668Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
(R657Q)
Single nucleotide variant
(missense variant)
not provided
GBenign
ADARB2
(G644D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
(S634L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
(A628V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
(R617W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
(A611V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
(A611P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
(V530A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
(R516H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
(R516C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
(R516G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
(V512I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
(T503R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
(E500K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
(L495F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
(R467W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ADARB2
(R457H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ADARB2
(R457C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
(R457S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ADARB2
(H443N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
(R438Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
(V436M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
(A433V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
(E419K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
(L409V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
(V407M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADARB2
(D400N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
(V394I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
(R386H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
(R386C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
(R386G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
(T378M)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ADARB2
(E375K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ADARB2
(R374C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
(A362T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
(A352G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
(P349L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
(G346S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ADARB2
(E300K)
Single nucleotide variant
(missense variant)
not provided
GBenign
ADARB2
(T267I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
(R259H)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ADARB2
(R259C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
(R254P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
(G252R)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ADARB2
(G242E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
(D218E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
(A195V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
(K178E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
(L165F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ADARB2
(H152P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
(T148M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
(R143Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
(R143G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
(P138R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADARB2
(W122R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
(L102R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
(K99T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
(R90W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
(R88P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
(P83L)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ADARB2
(N74I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
(D60N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
(L39S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2
(I38V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2, AKR1C1
+304 more
Copy number gain
See cases
GLikely pathogenic
ADARB2, LOC130003170
Copy number gain
See cases
GLikely benign
ADARB2
(R26K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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