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Links from MedGen

Items: 78

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FMO3
Single nucleotide variant
(splice acceptor variant)
Trimethylaminuria
GLikely pathogenic
FMO4
(P28H)
Single nucleotide variant
(missense variant)
Trimethylaminuria
GUncertain significance
FMO3
(Q407* +2 more)
Single nucleotide variant
(nonsense)
Trimethylaminuria
GPathogenic
FMO3, LOC126805916
(S132L +2 more)
Single nucleotide variant
(missense variant)
Trimethylaminuria
GLikely pathogenic
FMO3, LOC126805916
(E145* +2 more)
Single nucleotide variant
(nonsense)
Trimethylaminuria
+1 more
GPathogenic
FMO3
(R160W +2 more)
Single nucleotide variant
(missense variant)
Trimethylaminuria
GLikely pathogenic
FMO3
Single nucleotide variant
(3 prime UTR variant)
Trimethylaminuria
GUncertain significance
FMO3
Single nucleotide variant
(3 prime UTR variant)
Trimethylaminuria
GUncertain significance
FMO3
Single nucleotide variant
(synonymous variant)
Trimethylaminuria
GUncertain significance
FMO3
Single nucleotide variant
(synonymous variant)
Trimethylaminuria
+1 more
GConflicting classifications of pathogenicity
FMO3, LOC126805916
Single nucleotide variant
(intron variant)
Trimethylaminuria
GUncertain significance
FMO3, LOC126805916
(R142C +2 more)
Single nucleotide variant
(missense variant)
Trimethylaminuria
+2 more
GConflicting classifications of pathogenicity
FMO3, LOC126805916
(G160V +2 more)
Single nucleotide variant
(missense variant)
Trimethylaminuria
+1 more
GBenign
FMO3, LOC126805916
Single nucleotide variant
(intron variant)
Trimethylaminuria
GUncertain significance
FMO3
(G440R +2 more)
Single nucleotide variant
(missense variant)
Trimethylaminuria
GUncertain significance
FMO3
(T425A +2 more)
Single nucleotide variant
(missense variant)
Trimethylaminuria
GUncertain significance
FMO3
(I421T +2 more)
Single nucleotide variant
(missense variant)
Trimethylaminuria
+1 more
GConflicting classifications of pathogenicity
FMO3
(R354H +2 more)
Single nucleotide variant
(missense variant)
Trimethylaminuria
GUncertain significance
FMO3, LOC126805916
(V123E +2 more)
Single nucleotide variant
(missense variant)
Trimethylaminuria
GUncertain significance
FMO3
(N114S +2 more)
Single nucleotide variant
(missense variant)
Trimethylaminuria
+3 more
GConflicting classifications of pathogenicity
FMO3
(V110A +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FMO3
(D345Y +2 more)
Single nucleotide variant
(missense variant)
Trimethylaminuria
GUncertain significance
FMO3
(E299Q +2 more)
Single nucleotide variant
(missense variant)
Trimethylaminuria
+1 more
GConflicting classifications of pathogenicity
FMO3
Single nucleotide variant
(intron variant)
Trimethylaminuria
GUncertain significance
FMO3
(P185L +2 more)
Single nucleotide variant
(missense variant)
Trimethylaminuria
GUncertain significance
FMO3
Single nucleotide variant
(synonymous variant)
Trimethylaminuria
GUncertain significance
FMO3
(R218Q +2 more)
Single nucleotide variant
(missense variant)
Trimethylaminuria
+1 more
GConflicting classifications of pathogenicity
FMO3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FMO3
(L375fs +2 more)
Duplication
(frameshift variant)
Trimethylaminuria
GUncertain significance
FMO3
(S310L +2 more)
Single nucleotide variant
(missense variant)
Trimethylaminuria
+2 more
GLikely pathogenic
FMO3, LOC126805916
(G148R +2 more)
Single nucleotide variant
(missense variant)
Trimethylaminuria
GLikely pathogenic
LOC126805916, FMO3
(Q124* +2 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
FMO3
Single nucleotide variant
(3 prime UTR variant)
Trimethylaminuria
GUncertain significance
FMO3
Single nucleotide variant
(3 prime UTR variant)
Trimethylaminuria
GUncertain significance
FMO3
Single nucleotide variant
(3 prime UTR variant)
Trimethylaminuria
GUncertain significance
FMO3
Single nucleotide variant
(synonymous variant)
Trimethylaminuria
+1 more
GConflicting classifications of pathogenicity
FMO3
(V502G +2 more)
Single nucleotide variant
(missense variant)
Trimethylaminuria
+2 more
GLikely benign
FMO3
(Y430H +2 more)
Single nucleotide variant
(missense variant)
Trimethylaminuria
GUncertain significance
FMO3
(M402V +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FMO3
(S332G +2 more)
Single nucleotide variant
(missense variant)
Trimethylaminuria
GUncertain significance
FMO3
(F327V +2 more)
Single nucleotide variant
(missense variant)
Trimethylaminuria
GUncertain significance
FMO3
(V297L +2 more)
Single nucleotide variant
(missense variant)
Trimethylaminuria
GUncertain significance
FMO3
(V236I +2 more)
Single nucleotide variant
(missense variant)
Trimethylaminuria
+2 more
GBenign/Likely benign
FMO3
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FMO3, LOC126805916
(M144V +2 more)
Single nucleotide variant
(missense variant)
Trimethylaminuria
GUncertain significance
FMO3
(I87N +1 more)
Single nucleotide variant
(missense variant +1 more)
Trimethylaminuria
GUncertain significance
FMO3
(M82T +1 more)
Single nucleotide variant
(missense variant +1 more)
Trimethylaminuria
GUncertain significance
FMO3
Single nucleotide variant
(synonymous variant +1 more)
Trimethylaminuria
+1 more
GConflicting classifications of pathogenicity
FMO3
Single nucleotide variant
(5 prime UTR variant)
Trimethylaminuria
GUncertain significance
FMO3
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
FMO3
Single nucleotide variant
(synonymous variant)
Trimethylaminuria
+2 more
GBenign
FMO3
(V277A +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
FMO3, LOC126805916
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
FMO3, LOC126805916
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
FMO3, LOC126805916
Single nucleotide variant
(intron variant)
Trimethylaminuria
+1 more
GBenign
FMO3, LOC126805916
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
FMO3, LOC126805916
(D132H +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
FMO3
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
FMO3
(V58I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
FMO3, LOC126805916
Microsatellite
(nonsense)
Trimethylaminuria
+1 more
GPathogenic
FMO3, LOC126805916
(V187A +2 more)
Single nucleotide variant
(missense variant)
Trimethylaminuria
GPathogenic
FMO3
(E308G +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
FMO3, LOC126805916
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign
FMO3
(L360P +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
FMO3, LOC126805916
(E308G +2 more)
Single nucleotide variant
(missense variant)
Trimethylaminuria
+1 more
GPathogenic/Likely pathogenic
FMO3
(E45fs +1 more)
Deletion
(frameshift variant +1 more)
Trimethylaminuria
GPathogenic
FMO3
(E32K)
Single nucleotide variant
(missense variant +1 more)
Trimethylaminuria
GPathogenic
FMO3
Deletion
Trimethylaminuria
GPathogenic
FMO3
(M434I +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FMO3
(N61S +1 more)
Single nucleotide variant
(missense variant +1 more)
Trimethylaminuria
GLikely pathogenic
FMO3
(E314* +2 more)
Single nucleotide variant
(nonsense)
Trimethylaminuria
GPathogenic
FMO3
(R387L +2 more)
Single nucleotide variant
(missense variant)
FMO3-related condition
GLikely pathogenic
FMO3
(R492W +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
FMO3, LOC126805916
(P153L +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FMO3
(A52T +1 more)
Single nucleotide variant
(missense variant +1 more)
Trimethylaminuria
GPathogenic
FMO3
(M66I +1 more)
Single nucleotide variant
(missense variant +1 more)
Trimethylaminuria
GLikely pathogenic
FMO3
(V257M +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
FMO3
(E305* +2 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
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