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Items: 57

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABAT, ABCA3
+822 more
Copy number gain
See cases
GPathogenic
EEF2KMT, ELOB
+917 more
Copy number gain
See cases
GPathogenic
ABAT, ABCA3
+843 more
Copy number gain
See cases
GPathogenic
ABAT, ABCA3
+926 more
Copy number gain
See cases
GPathogenic
ABAT, ABCC1
+852 more
Copy number gain
See cases
GPathogenic
LINC01570, LOC105371069
+22 more
Copy number loss
See cases
GPathogenic
LOC126862278, LOC126862279
+1 more
Copy number gain
See cases
GUncertain significance
LOC126862278, RBFOX1
Duplication
Idiopathic generalized epilepsy
GUncertain significance
LOC126862278, RBFOX1
Copy number loss
See cases
GUncertain significance
LOC126862278, RBFOX1
Deletion
(intron variant)
Idiopathic generalized epilepsy
GLikely benign
LOC126862278, RBFOX1
Single nucleotide variant
(intron variant)
Idiopathic generalized epilepsy
GLikely benign
LOC126862278, RBFOX1
Single nucleotide variant
(intron variant)
Idiopathic generalized epilepsy
GLikely benign
LOC126862278, RBFOX1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
LOC126862278, RBFOX1
(A120T +6 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC126862278, RBFOX1
Single nucleotide variant
(synonymous variant)
Idiopathic generalized epilepsy
GLikely benign
LOC126862278, RBFOX1
(P296A +6 more)
Single nucleotide variant
(missense variant)
Idiopathic generalized epilepsy
GUncertain significance
LOC126862278, RBFOX1
(P133Q +6 more)
Single nucleotide variant
(missense variant)
Idiopathic generalized epilepsy
GUncertain significance
LOC126862278, RBFOX1
(P117L +2 more)
Single nucleotide variant
(missense variant)
Idiopathic generalized epilepsy
GUncertain significance
LOC126862278, RBFOX1
Single nucleotide variant
(synonymous variant)
Idiopathic generalized epilepsy
GLikely benign
LOC126862278, RBFOX1
(T118A +2 more)
Single nucleotide variant
(missense variant)
Idiopathic generalized epilepsy
GUncertain significance
LOC126862278, RBFOX1
(T118M +2 more)
Single nucleotide variant
(missense variant)
Idiopathic generalized epilepsy
GUncertain significance
LOC126862278, RBFOX1
Single nucleotide variant
(synonymous variant)
Idiopathic generalized epilepsy
GLikely benign
LOC126862278, RBFOX1
Single nucleotide variant
(synonymous variant)
Idiopathic generalized epilepsy
GLikely benign
LOC126862278, RBFOX1
(D142N +6 more)
Single nucleotide variant
(missense variant)
Idiopathic generalized epilepsy
GUncertain significance
LOC126862278, RBFOX1
Single nucleotide variant
(synonymous variant)
Idiopathic generalized epilepsy
GLikely benign
LOC126862278, RBFOX1
Single nucleotide variant
(synonymous variant)
Idiopathic generalized epilepsy
GLikely benign
LOC126862278, RBFOX1
(P102L +2 more)
Single nucleotide variant
(missense variant)
Idiopathic generalized epilepsy
GUncertain significance
LOC126862278, RBFOX1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC126862278, RBFOX1
(T124R +6 more)
Single nucleotide variant
(missense variant)
Idiopathic generalized epilepsy
GUncertain significance
LOC126862278, RBFOX1
(S150F +2 more)
Single nucleotide variant
(missense variant)
Idiopathic generalized epilepsy
+1 more
GUncertain significance
LOC126862278, RBFOX1
(E108Q +2 more)
Single nucleotide variant
(missense variant)
Idiopathic generalized epilepsy
GUncertain significance
LOC126862278, RBFOX1
Single nucleotide variant
(synonymous variant)
Idiopathic generalized epilepsy
GLikely benign
LOC126862278, RBFOX1
(T130R +6 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC126862278, RBFOX1
(T130M +2 more)
Single nucleotide variant
(missense variant)
Idiopathic generalized epilepsy
+1 more
GUncertain significance
LOC126862278, RBFOX1
Single nucleotide variant
(synonymous variant)
Idiopathic generalized epilepsy
GUncertain significance
LOC126862278, RBFOX1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
LOC126862278, RBFOX1
(K133N +6 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC126862278, RBFOX1
Single nucleotide variant
(synonymous variant)
Idiopathic generalized epilepsy
GLikely benign
LOC126862278, RBFOX1
(P116L +2 more)
Single nucleotide variant
(missense variant)
Idiopathic generalized epilepsy
GUncertain significance
LOC126862278, RBFOX1
(R118Q +2 more)
Single nucleotide variant
(missense variant)
Idiopathic generalized epilepsy
+2 more
GConflicting classifications of pathogenicity
LOC126862278, RBFOX1
Single nucleotide variant
(synonymous variant)
Idiopathic generalized epilepsy
GBenign
LOC126862278, RBFOX1
Single nucleotide variant
(synonymous variant)
Idiopathic generalized epilepsy
GLikely benign
LOC126862278, RBFOX1
Single nucleotide variant
(synonymous variant)
Idiopathic generalized epilepsy
GLikely benign
LOC126862278, RBFOX1
(R129P +6 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC126862278, RBFOX1
(R165Q +6 more)
Single nucleotide variant
(missense variant)
Idiopathic generalized epilepsy
GUncertain significance
LOC126862278, RBFOX1
Single nucleotide variant
(synonymous variant)
Idiopathic generalized epilepsy
GLikely benign
LOC126862278, RBFOX1
Single nucleotide variant
(synonymous variant)
Idiopathic generalized epilepsy
GLikely benign
LOC126862278, RBFOX1
(D132E +2 more)
Single nucleotide variant
(missense variant)
Idiopathic generalized epilepsy
GUncertain significance
LOC126862278, RBFOX1
(R154* +6 more)
Single nucleotide variant
(nonsense)
Idiopathic generalized epilepsy
GUncertain significance
LOC126862278, RBFOX1
(Q135* +2 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
LOC126862278, RBFOX1
(Q135L +6 more)
Single nucleotide variant
(missense variant)
RBFOX1-related disorder
GUncertain significance
LOC126862278, RBFOX1
(M136fs +2 more)
Deletion
(frameshift variant)
Colorectal cancer
GPathogenic
LOC126862278, RBFOX1
(G138A +2 more)
Single nucleotide variant
(missense variant)
Idiopathic generalized epilepsy
GUncertain significance
LOC126862278, RBFOX1
Single nucleotide variant
(intron variant)
Idiopathic generalized epilepsy
GUncertain significance
LOC126862278, RBFOX1
Single nucleotide variant
(intron variant)
Idiopathic generalized epilepsy
GLikely benign
LOC126862278, RBFOX1
Single nucleotide variant
(intron variant)
Idiopathic generalized epilepsy
GLikely benign
LOC126862278, RBFOX1
Single nucleotide variant
(intron variant)
Idiopathic generalized epilepsy
GLikely benign
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