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Items: 25

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129933244, LOC129933245
+653 more
Copy number gain
See cases
GPathogenic
LOC126806103, LOC126806104
+1047 more
Copy number gain
See cases
GPathogenic
LOC129933186, LOC129933187
+736 more
Copy number gain
See cases
GPathogenic
ABHD1, ACP1
+893 more
Copy number gain
See cases
GPathogenic
LOC129933311, LOC129933312
+1631 more
Copy number gain
See cases
GPathogenic
LINC01115, LINC01121
+1400 more
Copy number gain
See cases
GPathogenic
HAAO, HADHA
+2457 more
Copy number gain
See cases
GBenign
TRY-GTA2-1, UBXN2A
+321 more
Copy number loss
See cases
GPathogenic
FAM228B, PFN4
(R125S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FAM228B, PFN4
(G107S)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
FAM228B, PFN4
(V90M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FAM228B, PFN4
(R75W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FAM228B, PFN4
(F38L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FAM228B, PFN4
(A22S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABHD1, ACP1
+182 more
Copy number gain
See cases
GPathogenic
ATAD2B, FAM228A
+10 more
Copy number gain
not provided
GUncertain significance
ABHD1, ADAM17
+177 more
Copy number gain
not provided
GPathogenic
ACTG2, ACTR1B
+529 more
Copy number loss
See cases
GPathogenic
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
FAM228A, FAM228B
+19 more
Copy number loss
2p24.1p23.3 microdeletion syndrome
GPathogenic
APOB, ATAD2B
+22 more
Copy number loss
not provided
GPathogenic
DNMT3A, ADCY3
+14 more
Copy number gain
not provided
GUncertain significance
RGPD4, RGPD5
+1214 more
Copy number gain
See cases
GPathogenic
IL1F10, IL1R1
+1214 more
Copy number gain
See cases
GPathogenic
CENPO, ADCY3
+16 more
Copy number loss
not provided
Gnot provided
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