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Links from Gene

Items: 100

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC27A3
(H241P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC27A3
(A217V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC27A3
(G191A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC27A3
(D152E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC27A3
(A146V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC27A3
(D118N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC27A3
(A678T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC27A3
(L641I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC27A3
(V609M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC27A3
(R586K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC27A3
(V580L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC27A3
(V560M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC27A3
(E553K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC27A3
(R543C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC27A3
(F540L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC27A3
(D528A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC27A3
(C477Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC27A3
(Y462C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC27A3
(R461H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC27A3
(P456S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC27A3
(G442S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC27A3
(L419Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC27A3
(P418S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC27A3
(R414Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC27A3
(L382P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC27A3
(S301R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC27A3
(T288I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACP6, ADAM15
+263 more
Copy number gain
not specified
GPathogenic
ACP6, ADAM15
+315 more
Copy number gain
not specified
GPathogenic
SLC27A3
(A479V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC27A3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC27A3
(R44G)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
SLC27A3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC27A3
(V421L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC27A3
(R539H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC27A3
(Q636K)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ACP6, ADAM15
+293 more
Copy number gain
Chromosome 1q21.1 duplication syndrome
GPathogenic
SLC27A3
(A599T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC27A3
(T82S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC27A3
(R90L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC27A3
(L201P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC27A3
(R405C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC27A3
(G376R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC27A3
(T607I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC27A3
(L174F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC27A3
(A127V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC27A3
(N574K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC27A3
(R87C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC27A3
(L22R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC27A3
(R618W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC27A3
(G527E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC27A3
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
SLC27A3
(H583Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC27A3
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
SLC27A3
(R211C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC27A3
(A675V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC27A3
(R446H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC27A3
(G417R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC27A3
(V575A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC27A3
(R105C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC27A3
(K95T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC27A3
(E626D)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SLC27A3
(R98S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC27A3
(L404P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC27A3
(E377K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC27A3
(K551Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC27A3
(D152A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC27A3
(D152Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC27A3
(T434I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC27A3
(E95K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC27A3
(A599V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC27A3
(V657I)
Single nucleotide variant
(missense variant +2 more)
not specified
GLikely benign
SLC27A3
(D57A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC27A3
(R203Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC27A3
(G123D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EFNA3, EFNA4
+228 more
Duplication
Kostmann syndrome
+3 more
GUncertain significance
CA14, CACNA1E
+956 more
Duplication
Gastrointestinal stromal tumor
+2 more
GUncertain significance
SLC27A3
Single nucleotide variant
(intron variant)
not specified
GBenign
SLC27A3
Single nucleotide variant
(intron variant)
not specified
GBenign
JTB, RPS27
+17 more
Copy number gain
not provided
GUncertain significance
SPRR2F, SPRR2G
+29 more
Copy number gain
not provided
GUncertain significance
CHTOP, GATAD2B
+20 more
Copy number gain
not provided
GUncertain significance
JTB, NUP210L
+13 more
Copy number loss
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
GPathogenic
LCE2A, S100A2
+125 more
Copy number gain
not provided
GPathogenic
ADAR, PYGO2
+91 more
Copy number gain
not provided
GLikely pathogenic
BCAS2, CNTN2
+2014 more
Copy number gain
See cases
GPathogenic
FAM76A, FAM78B
+2014 more
Copy number gain
See cases
GPathogenic
SLC27A3, INTS3
Copy number gain
Breast ductal adenocarcinoma
GUncertain significance
SLC27A3
Single nucleotide variant
(intron variant)
not provided
Gnot provided
SLC27A3
Single nucleotide variant
(intron variant)
not provided
Gnot provided
SLC27A3
(G63V)
Single nucleotide variant
(missense variant +1 more)
not provided
Gnot provided
SLC27A3
Single nucleotide variant
(intron variant)
not provided
Gnot provided
SLC27A3
Single nucleotide variant
(intron variant)
not provided
Gnot provided
SLC27A3
Single nucleotide variant
(splice donor variant)
not provided
Gnot provided
SLC27A3
Single nucleotide variant
(intron variant)
not provided
Gnot provided
SLC27A3
Single nucleotide variant
(intron variant)
not provided
Gnot provided
SLC27A3
Single nucleotide variant
(intron variant)
not provided
Gnot provided
LOC129931453, LOC129931454
+1585 more
Copy number gain
See cases
GPathogenic
GATAD2B, INTS3
+2 more
Copy number loss
See cases
GUncertain significance
C1orf43, CFAP141
+35 more
Copy number loss
See cases
GPathogenic
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