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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAMTS4, ADCY10
+775 more
Copy number gain
See cases
GPathogenic
ADCY10, ALDH9A1
+406 more
Copy number loss
See cases
GPathogenic
FAM163A, FAM20B
+482 more
Copy number gain
See cases
GPathogenic
ANKRD45, ATP1B1
+232 more
Copy number loss
See cases
GPathogenic
FMO3
(R31G +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
LOC126805916, FMO3
Single nucleotide variant
(missense variant)
Trimethylaminuria
+3 more
GBenign
FMO3
(E287* +2 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
FMO3
(E308G +2 more)
Single nucleotide variant
(missense variant)
Trimethylaminuria
+2 more
GBenign/Likely benign
FMO3
(R387H +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
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