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Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ANKRD66, C6orf201
+2580 more
Copy number gain
See cases
GPathogenic
HLA-DPA1
(T221M)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
HLA-DPA1
(E59D)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
HLA-DPA1, HLA-DPB1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
HLA-DPA1, HLA-DPB1
(T16M)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
HLA-DPA1, HLA-DPB1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
HLA-DPA1, HLA-DPB1
Single nucleotide variant
(intron variant)
not provided
GBenign
ANKS1A, FKBP5
+94 more
Duplication
not provided
GUncertain significance
KIFC1, LEMD2
+172 more
Duplication
Proteasome-associated autoinflammatory syndrome 1
GUncertain significance
HLA-DPB1, HLA-DPA1
+1 more
Copy number loss
not provided
GLikely benign
ABHD16A, AGER
+117 more
Copy number gain
not provided
GLikely pathogenic
LRRC1, LRRC73
+427 more
Copy number gain
not provided
GPathogenic
HLA-DPA1, HLA-DPB1
Copy number loss
not provided
GLikely benign
TAAR8, TAAR9
+1028 more
Copy number gain
See cases
GPathogenic
VPS52, VTA1
+1028 more
Copy number gain
See cases
GPathogenic
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