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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
CCN5, KCNK15-AS1
(A11D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCN5, KCNK15-AS1
(P27L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCN5, KCNK15-AS1
(C32S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCN5, KCNK15-AS1
(P35A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCN5, KCNK15-AS1
(R38Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCN5, KCNK15-AS1
(P40L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCN5, KCNK15-AS1
(Q79L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCN5, KCNK15-AS1
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
CCN5, KCNK15-AS1
(R87Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCN5, KCNK15-AS1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CCN5, KCNK15-AS1
(G110V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCN5, KCNK15-AS1
(G126R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCN5, KCNK15-AS1
(S135I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCN5, KCNK15-AS1
(E160V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCN5, KCNK15-AS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
CCN5, KCNK15-AS1
(Q172K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCN5, KCNK15-AS1
(P193T)
Single nucleotide variant
(synonymous variant +1 more)
not specified
GUncertain significance
CCN5, KCNK15-AS1
(R117W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCN5, KCNK15-AS1
(R215W)
Single nucleotide variant
(synonymous variant +1 more)
not specified
GUncertain significance
CCN5, KCNK15-AS1
(V216A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCN5, KCNK15-AS1
(C151R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCN5, KCNK15-AS1
(P239S)
Single nucleotide variant
(synonymous variant +1 more)
not specified
GUncertain significance
CCN5, KCNK15-AS1
(R243C)
Single nucleotide variant
(synonymous variant +1 more)
not specified
GUncertain significance
CCN5, KCNK15-AS1
(A161T +1 more)
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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