U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MAT1A
(V306L)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
+1 more
GUncertain significance
MAT1A
(R299C)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
+1 more
GPathogenic/Likely pathogenic
MAT1A
(A259V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
MAT1A
(V241I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
MAT1A
(M76T)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
Format
Sort by
Choose Destination