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Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
JPH2, KAT14
+2522 more
Copy number gain
See cases
GPathogenic
AAR2, ACOT8
+568 more
Copy number loss
See cases
GPathogenic
ABHD16B, ACOT8
+1024 more
Copy number gain
See cases
GPathogenic
WFDC10B, WFDC13
(L5R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
WFDC10B, WFDC13
(R27C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
WFDC10B, WFDC13
(V28I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
WFDC10B, WFDC13
(I32N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
WFDC10B, WFDC13
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
WFDC10B, WFDC13
(V69I)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
WFDC10B, WFDC13
(C24Y)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
WFDC10B, WFDC13
(S9N)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
ACOT8, ADA
+72 more
Deletion
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
GPathogenic
ACOT8, ADA
+60 more
Deletion
Combined immunodeficiency due to STK4 deficiency
GPathogenic
PREX1, PTGIS
+79 more
Copy number loss
Developmental and epileptic encephalopathy, 26
GPathogenic
ACOT8, ACTR5
+124 more
Deletion
Focal-onset seizure
GLikely pathogenic
AAR2, ABHD12
+540 more
Copy number gain
See cases
GPathogenic
AAR2, ABHD12
+540 more
Copy number gain
See cases
GPathogenic
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