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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GAMT, NDUFS7
(T209M)
Single nucleotide variant
(missense variant)
Deficiency of guanidinoacetate methyltransferase
GBenign
GAMT
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
GAMT
Single nucleotide variant
(synonymous variant)
Deficiency of guanidinoacetate methyltransferase
GUncertain significance
GAMT
Single nucleotide variant
(synonymous variant)
Deficiency of guanidinoacetate methyltransferase
GPathogenic
GAMT, LOC130062945
(W20S)
Single nucleotide variant
(missense variant)
Deficiency of guanidinoacetate methyltransferase
GPathogenic
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