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Links from Gene

Items: 1 to 100 of 241

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126862278, RBFOX1
(T130R +6 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RBFOX1
Deletion
Idiopathic generalized epilepsy
GUncertain significance
RBFOX1
Duplication
Idiopathic generalized epilepsy
GUncertain significance
RBFOX1
Duplication
Idiopathic generalized epilepsy
GUncertain significance
LOC126862278, RBFOX1
(A120T +6 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RBFOX1
Copy number loss
not specified
GUncertain significance
RBFOX1
Copy number loss
not specified
GUncertain significance
LOC126862279, RBFOX1
(P317S +15 more)
Single nucleotide variant
(missense variant +1 more)
RBFOX1-related disorder
GUncertain significance
LOC126862279, RBFOX1
Single nucleotide variant
(intron variant)
Idiopathic generalized epilepsy
GLikely benign
LOC126862279, RBFOX1
(A317V +30 more)
Single nucleotide variant
(missense variant)
Idiopathic generalized epilepsy
GUncertain significance
LOC126862278, RBFOX1
Single nucleotide variant
(synonymous variant)
Idiopathic generalized epilepsy
GLikely benign
LOC126862279, RBFOX1
Single nucleotide variant
(intron variant)
Idiopathic generalized epilepsy
GLikely benign
LOC126862278, RBFOX1
Single nucleotide variant
(intron variant)
Idiopathic generalized epilepsy
GLikely benign
LOC126862279, RBFOX1
(P326T +15 more)
Single nucleotide variant
(missense variant +1 more)
Idiopathic generalized epilepsy
GUncertain significance
LOC126862278, RBFOX1
(T124R +6 more)
Single nucleotide variant
(missense variant)
Idiopathic generalized epilepsy
GUncertain significance
LOC126862279, RBFOX1
(L370S +14 more)
Single nucleotide variant
(synonymous variant +1 more)
Idiopathic generalized epilepsy
GLikely benign
LOC126862278, RBFOX1
Single nucleotide variant
(intron variant)
Idiopathic generalized epilepsy
GLikely benign
LOC126862278, RBFOX1
(P296A +6 more)
Single nucleotide variant
(missense variant)
Idiopathic generalized epilepsy
GUncertain significance
LOC126862279, 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
(P133Q +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
(D142N +6 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
RBFOX1
Copy number loss
not provided
GUncertain significance
RBFOX1
Copy number loss
not provided
GUncertain significance
RBFOX1
Copy number loss
not provided
GUncertain significance
RBFOX1
Copy number loss
not provided
GUncertain significance
LOC126862279, RBFOX1
(G345R +6 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
LOC126862278, RBFOX1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC126862278, RBFOX1
(Q135L +6 more)
Single nucleotide variant
(missense variant)
RBFOX1-related disorder
GUncertain significance
LOC126862278, RBFOX1
(K133N +6 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC126862279, RBFOX1
(L366F +15 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC126862278, RBFOX1
(R129P +6 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC126862279, RBFOX1
(P374S +30 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
(R165Q +6 more)
Single nucleotide variant
(missense variant)
Idiopathic generalized epilepsy
GUncertain significance
LOC126862279, RBFOX1
Single nucleotide variant
(intron variant)
Idiopathic generalized epilepsy
GLikely benign
LOC126862279, RBFOX1
Single nucleotide variant
(intron variant)
Idiopathic generalized epilepsy
GLikely benign
LOC126862278, RBFOX1
Deletion
(intron variant)
Idiopathic generalized epilepsy
GLikely benign
LOC126862279, RBFOX1
(V327L +15 more)
Single nucleotide variant
(missense variant +1 more)
Idiopathic generalized epilepsy
GUncertain significance
RBFOX1
Copy number loss
not provided
GUncertain significance
LOC126862279, RBFOX1
(P323S +15 more)
Single nucleotide variant
(synonymous variant +1 more)
Idiopathic generalized epilepsy
GUncertain significance
LOC126862278, RBFOX1
Single nucleotide variant
(synonymous variant)
Idiopathic generalized epilepsy
GLikely benign
LOC126862279, RBFOX1
Single nucleotide variant
(intron variant)
Idiopathic generalized epilepsy
GBenign
LOC126862279, RBFOX1
(P359R +1 more)
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
LOC126862278, RBFOX1
Single nucleotide variant
(intron variant)
Idiopathic generalized epilepsy
GLikely benign
LOC126862278, RBFOX1
Single nucleotide variant
(synonymous variant)
Idiopathic generalized epilepsy
GLikely benign
LOC126862279, RBFOX1
Single nucleotide variant
(intron variant)
Idiopathic generalized epilepsy
GLikely benign
LOC126862279, RBFOX1
Single nucleotide variant
(intron variant)
Idiopathic generalized epilepsy
GLikely benign
LOC126862279, RBFOX1
Single nucleotide variant
(intron variant)
Idiopathic generalized epilepsy
GLikely benign
LOC126862278, RBFOX1
Single nucleotide variant
(synonymous variant)
Idiopathic generalized epilepsy
GLikely benign
RBFOX1
Copy number loss
not specified
GUncertain significance
RBFOX1
Copy number loss
not specified
GUncertain significance
RBFOX1
Copy number loss
not specified
GUncertain significance
RBFOX1
Copy number loss
not specified
GUncertain significance
RBFOX1
Copy number loss
not specified
GUncertain significance
RBFOX1
Copy number loss
not specified
GUncertain significance
LOC126862278, RBFOX1
Single nucleotide variant
(intron variant)
Idiopathic generalized epilepsy
GUncertain significance
LOC126862279, RBFOX1
(E353K +5 more)
Single nucleotide variant
(missense variant)
Idiopathic generalized epilepsy
GUncertain significance
LOC126862279, RBFOX1
(G396del +5 more)
Deletion
(inframe_deletion)
Idiopathic generalized epilepsy
GUncertain significance
LOC126862279, RBFOX1
(D361N +3 more)
Single nucleotide variant
(missense variant +1 more)
Idiopathic generalized epilepsy
GUncertain significance
RBFOX1
Copy number loss
not provided
GUncertain significance
LOC126862279, RBFOX1
(P368Q +1 more)
Single nucleotide variant
(synonymous variant +1 more)
RBFOX1-related disorder
+1 more
GConflicting classifications of pathogenicity
LOC126862279, RBFOX1
(A371V +1 more)
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+1 more
GLikely benign
LOC126862279, RBFOX1
(T351M +1 more)
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GLikely benign
LOC126862278, RBFOX1
Single nucleotide variant
(synonymous variant)
Idiopathic generalized epilepsy
GLikely benign
LOC126862279, RBFOX1
(T370M +1 more)
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
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
(D132E +2 more)
Single nucleotide variant
(missense variant)
Idiopathic generalized epilepsy
GUncertain significance
LOC126862278, RBFOX1
(P116L +2 more)
Single nucleotide variant
(missense variant)
Idiopathic generalized epilepsy
GUncertain significance
LOC126862279, RBFOX1
(V327I +3 more)
Single nucleotide variant
(missense variant +1 more)
Idiopathic generalized epilepsy
GUncertain significance
LOC126862278, RBFOX1
(T118A +2 more)
Single nucleotide variant
(missense variant)
Idiopathic generalized epilepsy
GUncertain significance
LOC126862279, RBFOX1
(A322D +5 more)
Single nucleotide variant
(missense variant)
Idiopathic generalized epilepsy
GUncertain significance
RBFOX1
Copy number gain
not provided
GLikely pathogenic
LOC126862278, RBFOX1
(G138A +2 more)
Single nucleotide variant
(missense variant)
Idiopathic generalized epilepsy
GUncertain significance
LOC126862278, RBFOX1
(M136fs +2 more)
Deletion
(frameshift variant)
Colorectal cancer
GPathogenic
RBFOX1
Copy number loss
Hearing impairment
+1 more
GLikely pathogenic
RBFOX1
Copy number loss
not provided
GUncertain significance
RBFOX1
Copy number loss
not provided
GUncertain significance
RBFOX1
Copy number loss
not provided
GUncertain significance
RBFOX1
Copy number loss
not provided
GUncertain significance
RBFOX1
Copy number loss
not provided
GUncertain significance
RBFOX1
Copy number gain
not provided
GUncertain significance
RBFOX1
Copy number gain
not provided
GUncertain significance
RBFOX1
Copy number loss
not provided
GUncertain significance
RBFOX1
Copy number gain
not provided
Gnot provided
LOC126862278, RBFOX1
Single nucleotide variant
(synonymous variant)
Idiopathic generalized epilepsy
GUncertain significance
LOC126862279, RBFOX1
(R356* +3 more)
Single nucleotide variant
(nonsense +1 more)
Idiopathic generalized epilepsy
GUncertain significance
LOC126862278, RBFOX1
(T130M +2 more)
Single nucleotide variant
(missense variant)
Idiopathic generalized epilepsy
+1 more
GUncertain significance
LOC126862279, RBFOX1
(G377R +3 more)
Single nucleotide variant
(missense variant +1 more)
Idiopathic generalized epilepsy
GUncertain significance
LOC126862279, RBFOX1
Single nucleotide variant
(intron variant)
Idiopathic generalized epilepsy
GUncertain significance
LOC126862279, RBFOX1
(A382D +5 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
Single nucleotide variant
(synonymous variant)
Idiopathic generalized epilepsy
GLikely benign
RBFOX1
Copy number loss
not provided
GUncertain significance
RBFOX1
Copy number loss
not provided
GUncertain significance
RBFOX1
Copy number loss
not provided
GUncertain significance
RBFOX1
Copy number loss
not provided
GUncertain significance
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