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Items: 52

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129996786, LOC129996787
+1449 more
Copy number gain
See cases
GPathogenic
AKAP7, ARG1
+400 more
Deletion
Interstitial 6q microdeletion syndrome
GPathogenic
LINC00326, LOC123864071
+34 more
Copy number gain
See cases
GUncertain significance
VNN2
(V297I +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VNN2
(Q294P +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VNN2
(Q294K +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VNN2
(G441R +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VNN2
(C493R +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VNN2
(L268V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VNN2
(R410H +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126859794, VNN2
(P365Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126859794, VNN2
(R364Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
LOC126859794, VNN2
(L359V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VNN2
(E344K +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
VNN2
(R340Q +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GBenign
VNN2
(G336R +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
VNN2
(V383I +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
VNN2
(M320K +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
VNN2
(M320V +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
VNN2
(G286V +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
VNN2
(K233Q +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
VNN2
(V241F +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
VNN2
(T210M +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
VNN2
(R152S +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely benign
VNN2
(C100R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VNN2
(D150E +1 more)
Single nucleotide variant
(missense variant +1 more)
Malignant tumor of prostate
GUncertain significance
VNN2
(R149H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VNN2
(N147D +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VNN2
(A129T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VNN2
(T36I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
VNN2
(R74Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
VNN2
(A64V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VNN2
(E3D +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VNN2
(L53V)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
VNN2
(S46F)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely benign
VNN2
(Q23E)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
VNN2
(T17N)
Single nucleotide variant
(missense variant +2 more)
not provided
GBenign
VNN2
(I16M)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ABRACL, ADAT2
+69 more
Copy number gain
not specified
GPathogenic
RPS12, SLC18B1
+5 more
Copy number gain
not specified
GUncertain significance
TAAR1, VNN1
+2 more
Copy number gain
not specified
GUncertain significance
ABRACL, ADAT2
+155 more
Copy number gain
not specified
GPathogenic
AHI1, AKAP7
+69 more
Copy number loss
not provided
GPathogenic
RPS12, SLC18B1
+5 more
Copy number gain
not provided
GUncertain significance
AHI1, AKAP7
+30 more
Copy number loss
not provided
GPathogenic
RPS12, SLC18B1
+7 more
Copy number gain
not provided
GUncertain significance
RPS12, SLC18B1
+5 more
Copy number gain
not provided
GUncertain significance
ALDH8A1, PDE7B
+31 more
Copy number loss
not provided
GPathogenic
ALDH8A1, VNN2
+37 more
Copy number loss
not provided
GPathogenic
TAAR8, TAAR9
+1028 more
Copy number gain
See cases
GPathogenic
VPS52, VTA1
+1028 more
Copy number gain
See cases
GPathogenic
ABRACL, ADAT2
+41 more
Copy number loss
See cases
GPathogenic
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