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Items: 33

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
KCNK15, KCNK15-AS1
(V6L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNK15, KCNK15-AS1
(E30Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
KCNK15, KCNK15-AS1
(S35R)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GLikely benign
KCNK15, KCNK15-AS1
(R60S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GLikely benign
KCNK15, KCNK15-AS1
(G82S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
KCNK15
(P101L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNK15
(K144E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNK15
(C145Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNK15
(A177T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNK15
(S179L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNK15
(F181L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNK15
(A189T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNK15
(Y192C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNK15
(A251T)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
KCNK15
(A251D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNK15
(D252N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNK15
(P254S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNK15
(P254L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNK15
(E255K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNK15
(R259G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNK15
(A281T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNK15
(P309L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNK15
(G324E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNK15
(R326W)
Single nucleotide variant
(missense variant)
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
PKIG, CCN5
+3 more
Copy number gain
not provided
GUncertain significance
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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