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Items: 65

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD4, ANG
+312 more
Copy number loss
See cases
GPathogenic
LOC130055392, LOC130055393
+780 more
Copy number gain
See cases
GPathogenic
CCNB1IP1, KLHL33
+24 more
Duplication
14q11.2 microduplication syndrome
GUncertain significance
ABHD4, ACIN1
+814 more
Copy number gain
See cases
GPathogenic
OR10G2, OR10G3
+859 more
Copy number gain
See cases
GPathogenic
LOC126862060, LOC126862061
+3282 more
Copy number gain
See cases
GPathogenic
ANG, APEX1
+119 more
Copy number gain
See cases
GPathogenic
LOC125048449, LOC125048450
+3277 more
Copy number gain
See cases
GPathogenic
ABHD4, ACIN1
+399 more
Copy number gain
See cases
GPathogenic
LOC112214170, LOC112214171
+840 more
Copy number loss
See cases
GPathogenic
CCNB1IP1, LOC126861878
+14 more
Copy number gain
See cases
GBenign
LOC130055247, PARP2
(R6P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130055247, PARP2
(R7G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130055247, PARP2
(G12V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130055247, PARP2
(R13G)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PARP2
(K48T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PARP2
(R72K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PARP2
(S80C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PARP2
(P80A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PARP2
(V101I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PARP2
(G142E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PARP2
(S148N +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
PARP2
(V163M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PARP2
(C152Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PARP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PARP2
(P185L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PARP2
(E209Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PARP2
(D222G +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
PARP2
(I285T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PARP2
(R277P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PARP2
(H281Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PARP2
(M299V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PARP2
(M286T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PARP2
(C289R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PARP2
(R303H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PARP2
(Q319E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PARP2
(Q352R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PARP2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PARP2
(Y362C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PARP2
(K380R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PARP2
(D383N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PARP2
(S417Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PARP2
(A446T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PARP2
(M453I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PARP2
(L473V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PARP2
(H500R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PARP2
(A522V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PARP2
(V516I +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PARP2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PARP2
(R557Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCNB1IP1, KLHL33
+10 more
Copy number gain
not specified
GUncertain significance
ABHD12B, ABHD4
+289 more
Copy number gain
not provided
GPathogenic
ABHD4, ANG
+52 more
Copy number loss
not provided
GPathogenic
ABHD4, ACIN1
+197 more
Copy number gain
Seizure
GPathogenic
APEX1, CCNB1IP1
+12 more
Copy number gain
not specified
GUncertain significance
ANG, APEX1
+46 more
Copy number loss
not provided
GPathogenic
AKAP6, MDP1
+187 more
Copy number gain
not provided
Gnot provided
ABHD4, ACIN1
+187 more
Copy number gain
not provided
GPathogenic
CCNB1IP1, KLHL33
+10 more
Copy number gain
not provided
GUncertain significance
ANG, APEX1
+25 more
Copy number gain
not provided
GUncertain significance
ARHGEF40, BCL2L2
+152 more
Copy number gain
not provided
GPathogenic
GTF2A1, GZMB
+624 more
Copy number gain
See cases
GPathogenic
ABCD4, ABHD12B
+635 more
Copy number gain
See cases
GPathogenic
OR5AU1, OR6S1
+164 more
Copy number gain
See cases
GPathogenic
ABHD4, ACIN1
+149 more
Copy number gain
See cases
GPathogenic
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