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Links from Gene

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FASN, LOC129390948
(R2428H)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
FASN, LOC129390948
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
FASN, LOC129390948
(S2407C)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
FASN, LOC129390948
(A2400T)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
FASN, LOC129390948
(V2397L)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
FASN, LOC129390948
(T2434I)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
FASN, LOC129390948
(E2415V)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
FASN, LOC129390948
(A2399G)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
FASN
Single nucleotide variant
(splice donor variant)
not provided
GUncertain significance
FASN
(C2273Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FASN
(A1272V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FASN, LOC129390948
(E2415G)
Single nucleotide variant
(missense variant)
FASN-related disorder
GUncertain significance
FASN, LOC129390948
(I2405V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FASN, LOC129390948
(D2402N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FASN, LOC129390948
(S2417R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FASN, LOC129390948
(A2419V)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
FASN, LOC129390948
(A2437V)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
FASN, LOC129390948
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
FASN, LOC129390948
(F2423L)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
FASN, LOC129390948
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
LOC129390948, FASN
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
FASN, LOC129390948
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
FASN, LOC129390948
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
FASN, LOC129390948
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
FASN, LOC129390948
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
FASN, LOC129390948
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
FASN, LOC129390948
(M2444I)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
FASN, LOC129390948
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GUncertain significance
FASN, LOC129390948
(R2428C)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
FASN, LOC129390948
(R2421Q)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
FASN, LOC129390948
(V2443M)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
FASN, LOC129390948
(H2408Y)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
FASN, LOC129390948
(R2413C)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
FASN, LOC129390948
(A2420V)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
FASN
(N220fs)
Indel
(frameshift variant)
not provided
GUncertain significance
FASN, LOC129390948
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
FASN, LOC129390948
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
FASN, LOC129390948
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
FASN, LOC129390948
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
FASN, LOC129390948
(N2442S)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
FASN, LOC129390948
(S2417N)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
FASN, LOC129390948
(R2413H)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
FASN
(A1011V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FASN, LOC129390948
(R2421W)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
+1 more
GUncertain significance
FASN, LOC129390948
(V2401A)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
+1 more
GUncertain significance
FASN, LOC129390948
(A2448T)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
+1 more
GUncertain significance
FASN, LOC129390948
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
FASN, LOC129390948
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
FASN, LOC129390948
(A2386V)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GBenign
FASN, LOC129390948
(T2450M)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
+1 more
GUncertain significance
FASN, LOC129390948
(G2410D)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
FASN, LOC129390948
(L2390R)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GBenign
FASN, LOC129390948
(A2398S)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
+1 more
GBenign
FASN, LOC129390948
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
FASN, LOC129390948
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GBenign
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