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Links from Gene

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TFEC
(E188K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TFEC
(I251V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TFEC
(T240K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TFEC
(L23S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TFEC
(Y221C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TFEC
(D255N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TFEC
(L151F +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TFEC
(M71T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TFEC
(I280R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TFEC
(A212P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TFEC
(R199H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TFEC
(K107R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TFEC
(A135G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TFEC
(N9S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ASZ1, CAPZA2
+131 more
Copy number loss
Autism spectrum disorder
GPathogenic
TES, TFEC
+20 more
Copy number loss
not provided
GPathogenic
TFEC
(M145T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TFEC
(D130V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TFEC
(P43S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TFEC
(V64I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TFEC
(M278V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TFEC
(R146C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TFEC
(W124C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TFEC
(K140N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TFEC
(I107V +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
TFEC
(Q189K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AASS, ABCA13
+896 more
Copy number loss
See cases
GUncertain significance
CACNA2D1, CADPS2
+896 more
Complex
Ring chromosome 7
GPathogenic
FEZF1, GPR37
+38 more
Deletion
Delayed speech and language development
GLikely pathogenic
PRRT4, PTPRZ1
+92 more
Copy number gain
not specified
GPathogenic
ALKBH4, ANKRD7
+95 more
Copy number loss
not specified
GPathogenic
CHRM2, KRBA1
+295 more
Copy number gain
not provided
GPathogenic
TMEM168, LAMB4
+59 more
Copy number loss
not provided
GPathogenic
TFEC
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TFEC
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TFEC
(G100S +2 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
PRSS1, PRSS37
+896 more
Copy number gain
not provided
GPathogenic
ASZ1, BMT2
+34 more
Copy number loss
not provided
GPathogenic
AASS, ABCB8
+436 more
Copy number gain
not provided
GPathogenic
CAV2, TFEC
+14 more
Copy number loss
not provided
GLikely pathogenic
FOXP2, MDFIC
+2 more
Deletion
not provided
GPathogenic
ASZ1, CAPZA2
+14 more
Copy number gain
See cases
GUncertain significance
AVL9, AZGP1
+896 more
Copy number gain
See cases
GPathogenic
MCM7, MDFIC
+896 more
Copy number gain
See cases
GPathogenic
BMT2, DOCK4
+9 more
Copy number loss
See cases
GPathogenic
AASS, ABCA13
+678 more
Deletion
Pleomorphic xanthoastrocytoma
GPathogenic
AASS, RNU2-1
+57 more
Copy number loss
See cases
GPathogenic
CAPZA2, CAV1
+98 more
Copy number loss
See cases
GPathogenic
ASZ1, CAPZA2
+131 more
Copy number loss
See cases
GPathogenic
AASS, ABCB8
+1547 more
Copy number gain
See cases
GPathogenic
ALKBH4, ANKRD7
+474 more
Copy number loss
See cases
GPathogenic
LOC123956257, LOC123956258
+2213 more
Copy number gain
See cases
GPathogenic
CUL1, CUX1
+4737 more
Copy number loss
See cases
GPathogenic
AASS, ANKRD7
+253 more
Copy number loss
See cases
GPathogenic
AASS, ANKRD7
+248 more
Copy number loss
See cases
GPathogenic
CAV1, CAV2
+48 more
Copy number gain
See cases
GPathogenic
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