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Items: 58

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
JPH2, KAT14
+2522 more
Copy number gain
See cases
GPathogenic
ABHD16B, ACOT8
+1024 more
Copy number gain
See cases
GPathogenic
ARFGEF2, CSE1L
+44 more
Copy number gain
See cases
GUncertain significance
DDX27, KCNB1
+15 more
Copy number gain
See cases
GUncertain significance
DDX27, KCNB1
+12 more
Duplication
Developmental and epileptic encephalopathy, 26
GUncertain significance
DDX27
(G17V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDX27
Single nucleotide variant
(5 prime UTR variant)
not specified
GUncertain significance
DDX27
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
DDX27
(L5F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDX27
(L7F)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
DDX27
(V17E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDX27
(I34V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDX27
(E129D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDX27
(T142A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDX27
(Y144C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDX27
(A147T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDX27
Single nucleotide variant
(synonymous variant)
not provided
GBenign
DDX27
(K164R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDX27
(E203K +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
DDX27
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DDX27
(T211A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDX27
Single nucleotide variant
(synonymous variant)
not provided
GBenign
DDX27
(A256T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDX27
(R260C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDX27
(T267I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDX27
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
DDX27
(A308V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDX27
(D310E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDX27
(R365H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDX27
(M455T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDX27
(R476W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDX27
(V487M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDX27
(G531E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDX27
(T503M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDX27
(R541W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDX27
(E546D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDX27
(A553V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDX27
(P561L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDX27
(R569W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDX27
(N600T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDX27
(E618K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDX27
Single nucleotide variant
(intron variant)
not specified
GBenign
DDX27
(A636T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDX27
(P705S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDX27
(L752F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDX27
(Q743P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDX27
(R751G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDX27
(G752R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARFGEF2, CSE1L
+4 more
Copy number gain
not provided
GUncertain significance
PREX1, PTGIS
+79 more
Copy number loss
Developmental and epileptic encephalopathy, 26
GPathogenic
ARFGEF2, CSE1L
+4 more
Deletion
Developmental and epileptic encephalopathy, 26
GUncertain significance
ADNP, ARFGEF2
+27 more
Duplication
not provided
GUncertain significance
ADNP, ARFGEF2
+28 more
Copy number loss
See cases
GPathogenic
AAR2, ABHD12
+540 more
Copy number gain
See cases
GPathogenic
AAR2, ABHD12
+540 more
Copy number gain
See cases
GPathogenic
SPATA2, STAU1
+24 more
Copy number loss
See cases
GLikely pathogenic
ARFGEF2, CSE1L
+5 more
Copy number gain
See cases
GUncertain significance
KCNG1, SPATA2
+22 more
Copy number loss
See cases
GLikely pathogenic
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