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Items: 22

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD8, ACP5
+2135 more
Copy number gain
See cases
GPathogenic
ALKBH6, ANKRD27
+459 more
Copy number loss
See cases
GPathogenic
ALKBH6, ANKRD27
+439 more
Copy number loss
See cases
GPathogenic
ZNF146, ZNF565
(L115F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF146, ZNF565
(K157N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF146, ZNF565
(R260G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALKBH6, APLP1
+63 more
Copy number loss
not provided
GPathogenic
ZNF146, ZNF565
Copy number loss
not specified
GUncertain significance
SLC7A9, SNRPA
+215 more
Copy number gain
not specified
GPathogenic
ALKBH6, CAPNS1
+11 more
Copy number gain
not specified
GUncertain significance
ZNF146, ZNF565
Copy number loss
not provided
GUncertain significance
ALKBH6, APLP1
+18 more
Copy number gain
not provided
GUncertain significance
ALKBH6, APLP1
+72 more
Deletion
not provided
GPathogenic
ACP7, ACTMAP
+255 more
Copy number gain
Specific learning disability
GPathogenic
ZNF607, ZNF780A
+432 more
Copy number gain
not provided
GPathogenic
ALKBH6, APLP1
+79 more
Copy number loss
Generalized epilepsy with febrile seizures plus, type 1
GPathogenic
PGLYRP1, PGLYRP2
+1364 more
Copy number gain
See cases
GPathogenic
TMC4, TMED1
+1364 more
Copy number gain
See cases
GPathogenic
ALKBH6, APLP1
+39 more
Copy number loss
See cases
GUncertain significance
SIPA1L3, ALKBH6
+41 more
Copy number gain
See cases
GUncertain significance
DPF1, SIPA1L3
+31 more
Copy number loss
Breast ductal adenocarcinoma
GUncertain significance
SIPA1L3, WDR87
+30 more
Complex
Breast ductal adenocarcinoma
GUncertain significance
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