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Items: 1 to 100 of 2184

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FASN
(A2287V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FASN
(C2312S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FASN
(V1939M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FASN
(I27V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FASN
(G2228D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FASN
(P334S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FASN
(A1203V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FASN
(L1021R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FASN
(D37H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FASN
(F816Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FASN
(E733K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FASN
(M2073I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FASN
(L1642P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FASN
(H2103Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FASN
(V1854L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FASN
(A1358S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FASN
(G1248S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FASN
(D1586N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FASN
(S1385L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FASN
(G46R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FASN
(P1222L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ALYREF, ANAPC11
+45 more
Copy number loss
not provided
GPathogenic
FASN
(G152W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FASN
(W1377*)
Single nucleotide variant
(nonsense)
FASN-related disorder
GUncertain significance
FASN
(G1817D)
Single nucleotide variant
(missense variant)
FASN-related disorder
GUncertain significance
FASN
(A415S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FASN
(P480T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FASN
(L1268P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FASN
(L1536F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FASN
(A2460V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FASN
(Q1910R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACTG1, ALYREF
+52 more
Duplication
not provided
GUncertain significance
CCDC57, CD7
+18 more
Duplication
Epileptic encephalopathy
GUncertain significance
FASN
(R2505C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FASN
(T2255A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FASN
(D2122G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FASN
(T1829M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FASN
(L1745W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FASN
(P1416L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FASN
(P1406L)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
FASN
(L1353V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FASN
(D1229E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FASN
(G1163R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FASN
(I1113M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FASN
(N978S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FASN
(T976I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FASN
(A89V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FASN
(S868F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FASN
(G807S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FASN
(P654L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FASN
(E612V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FASN
(A354S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FASN
Single nucleotide variant
(synonymous variant)
FASN-related disorder
GLikely benign
FASN
Single nucleotide variant
(splice acceptor variant)
FASN-related disorder
GUncertain significance
FASN
Single nucleotide variant
(synonymous variant)
FASN-related disorder
GLikely benign
FASN
Single nucleotide variant
(synonymous variant)
FASN-related disorder
GLikely benign
FASN
(V2066M)
Single nucleotide variant
(missense variant)
FASN-related disorder
GUncertain significance
FASN
Single nucleotide variant
(intron variant)
FASN-related disorder
GLikely benign
FASN
Single nucleotide variant
(intron variant)
FASN-related disorder
GLikely benign
FASN
(H971Q)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
FASN
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
FASN
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
FASN
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
FASN
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
FASN
(D1631A)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
FASN
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
FASN
(G2470R)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
FASN
(T1580A)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
FASN
Single nucleotide variant
(intron variant)
Epileptic encephalopathy
GLikely benign
FASN
(I184L)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
FASN
(A2089T)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
+1 more
GUncertain significance
FASN
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
FASN
Single nucleotide variant
(intron variant)
Epileptic encephalopathy
GLikely benign
FASN
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
FASN
(Y2118H)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
FASN
(P1173S)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
FASN
(H1122Y)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
FASN
Single nucleotide variant
(intron variant)
Epileptic encephalopathy
GLikely benign
FASN
(F821L)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
FASN
Single nucleotide variant
(intron variant)
Epileptic encephalopathy
GLikely benign
FASN
(L1469I)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
FASN
(A1133T)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
FASN
Single nucleotide variant
(intron variant)
Epileptic encephalopathy
GUncertain significance
FASN
Duplication
(inframe_insertion)
Epileptic encephalopathy
GUncertain significance
FASN
(V876M)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
FASN
(T211I)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
FASN
(M506I)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
FASN
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
FASN
(H755Y)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
FASN, LOC129390948
(R2428H)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
FASN
(L2345V)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
FASN
Single nucleotide variant
(intron variant)
Epileptic encephalopathy
GLikely benign
FASN
Single nucleotide variant
(intron variant)
Epileptic encephalopathy
GLikely benign
FASN
Single nucleotide variant
(intron variant)
Epileptic encephalopathy
GLikely benign
FASN
Single nucleotide variant
(intron variant)
Epileptic encephalopathy
GLikely benign
FASN
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
FASN
(R1612G)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
FASN
(F148del)
Microsatellite
(inframe_deletion)
Epileptic encephalopathy
GUncertain significance
FASN
(A2116V)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
FASN
(R2482C)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance

Items: 1 to 100 of 2184

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