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Links from Gene

Items: 1 to 100 of 293

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TAS1R3
(E333D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(P495S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(R498W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(A302D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
TAS1R3
(G835R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(R509S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(A231T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(P826R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(S104W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(A228T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(P812R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(V259I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(V460M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(R443Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
TAS1R3
(P348S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAP3, ACTRT2
+60 more
Deletion
Shprintzen-Goldberg syndrome
GUncertain significance
TAS1R3
(A329V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(G311R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(P244L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(A232T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(E217K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(G20R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(S170C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(E148D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(I125V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(A118T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(N85K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(A837T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(A807P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(R752Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
TAS1R3
(A733E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(R594W)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
TAS1R3
(A585T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(R550Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(R530W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(C499F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(D491G)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
TAS1R3
(T480S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(R479K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(G448A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(D445N)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
TAS1R3
(C415Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(D374Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(E363D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(G355D)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
TAS1R3
(A353T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(V338M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAP3, ACTRT2
+76 more
Copy number gain
not specified
GPathogenic
RNF207, RNF223
+108 more
Copy number loss
not specified
GPathogenic
MMP23B, SSU72
+29 more
Copy number gain
not provided
GUncertain significance
MIR551A, PANK4
+58 more
Copy number gain
not provided
GPathogenic
MMEL1, PEX10
+53 more
Copy number gain
not provided
GUncertain significance
TMEM88B, UBE2J2
+38 more
Copy number loss
not provided
GLikely pathogenic
SCNN1D, SDF4
+67 more
Copy number loss
not provided
GPathogenic
ACAP3, ACOT7
+116 more
Copy number loss
not provided
GPathogenic
TAS1R3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
A2ML1-AS2, A3GALT2
+2151 more
Copy number gain
Trisomy 12p
GPathogenic
TAS1R3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TAS1R3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TAS1R3
(L458P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(Q531H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(G604E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(D88N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(E566K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(R52H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(L99F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(A383T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(D470N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAP3, ACTRT2
+79 more
Copy number loss
not provided
GPathogenic
TAS1R3
(P313A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(A329G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(T195M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(V421G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(H261Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(A412T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(P246T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(G219S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(G615S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(N207K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(G234V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(V80M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(S87L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(L273P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(R509C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(R677G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(S629G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAP3, AGRN
+65 more
Copy number loss
Chromosome 1p36 deletion syndrome
GPathogenic
TAS1R3
(T377M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(Q372R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(R177W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(R558G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(R530Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
TAS1R3
(R467S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(D520N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(L95P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPTP, DVL1
+2 more
Duplication
not provided
GUncertain significance
TAS1R3
(V496M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(R558K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAS1R3
(A176T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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