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Items: 22

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129996876, LOC129996877
+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
LOC129997182, RPS12
(D13G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC129997182, RPS12
(V14I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC129997182, RPS12
(T24I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPS12
(R101H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPS12
(K132Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARG1, CCN2
+19 more
Deletion
not provided
GPathogenic
ABRACL, ADAT2
+69 more
Copy number gain
not specified
GPathogenic
RPS12, SLC18B1
+5 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
AARS2, ABCC10
+1028 more
Copy number gain
See cases
GPathogenic
RING1, RIOK1
+1028 more
Copy number gain
See cases
GPathogenic
ABRACL, ADAT2
+41 more
Copy number loss
See cases
GPathogenic
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