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Links from MedGen

Items: 1 to 100 of 309

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MAT1A
(G280V)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
MAT1A
(V198M)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
MAT1A
Single nucleotide variant
(synonymous variant)
Hepatic methionine adenosyltransferase deficiency
GLikely benign
MAT1A
Single nucleotide variant
(synonymous variant)
Hepatic methionine adenosyltransferase deficiency
GLikely benign
MAT1A
Single nucleotide variant
(synonymous variant)
Hepatic methionine adenosyltransferase deficiency
GLikely benign
MAT1A
(R169C)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
MAT1A
(C104F)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
MAT1A
(R177P)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
MAT1A
Single nucleotide variant
(splice donor variant)
Hepatic methionine adenosyltransferase deficiency
GPathogenic
MAT1A
(I87N)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GPathogenic
MAT1A
(Q119*)
Single nucleotide variant
(nonsense)
Hepatic methionine adenosyltransferase deficiency
GPathogenic
MAT1A
(A132E)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
MAT1A
(Y320S)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
LOC126860980, MAT1A
Single nucleotide variant
(synonymous variant)
Hepatic methionine adenosyltransferase deficiency
GLikely benign
MAT1A
(I213V)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
MAT1A
(G309E)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
MAT1A
(I322T)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
MAT1A
(R220K)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
MAT1A
(E23Q)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
MAT1A
Single nucleotide variant
(intron variant)
Hepatic methionine adenosyltransferase deficiency
GLikely benign
MAT1A
Deletion
Hepatic methionine adenosyltransferase deficiency
GPathogenic
MAT1A
(S22L)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
MAT1A
(G91S)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
MAT1A
(E145K)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
MAT1A
(I252T)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
MAT1A
(R292C)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GPathogenic
MAT1A
(I322V)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
MAT1A
Single nucleotide variant
(intron variant)
Hepatic methionine adenosyltransferase deficiency
GLikely benign
MAT1A
(Q183K)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
MAT1A
(E326K)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
MAT1A
Single nucleotide variant
(synonymous variant)
Hepatic methionine adenosyltransferase deficiency
GLikely benign
MAT1A
(D191N)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
MAT1A
Single nucleotide variant
(intron variant)
Hepatic methionine adenosyltransferase deficiency
GLikely benign
MAT1A
(A118G)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
MAT1A
(V349A)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
MAT1A
(N105K)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
MAT1A
(Y335H)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
MAT1A
(V231M)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
MAT1A
(Q208P)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GLikely pathogenic
LOC126860980, MAT1A
(P390H)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
MAT1A
(P151T)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
MAT1A
(A157V)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
MAT1A
(G26R)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
MAT1A
(C60R)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
MAT1A
(Y296C)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
MAT1A
(R356Q)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
MAT1A
(G257R)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
MAT1A
(G140S)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
MAT1A
Single nucleotide variant
(intron variant)
Hepatic methionine adenosyltransferase deficiency
GLikely benign
MAT1A
(V121I)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
MAT1A
Single nucleotide variant
(intron variant)
Hepatic methionine adenosyltransferase deficiency
GLikely benign
MAT1A
Single nucleotide variant
(synonymous variant)
Hepatic methionine adenosyltransferase deficiency
GLikely benign
MAT1A
(C9R)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
MAT1A
Single nucleotide variant
(intron variant)
Hepatic methionine adenosyltransferase deficiency
GLikely benign
MAT1A
(R312Q)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
MAT1A
(L222R)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
MAT1A
Single nucleotide variant
(intron variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
LOC126860980, MAT1A
(E384K)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
MAT1A
Single nucleotide variant
(synonymous variant)
Hepatic methionine adenosyltransferase deficiency
GLikely benign
MAT1A
Single nucleotide variant
(synonymous variant)
Hepatic methionine adenosyltransferase deficiency
GLikely benign
MAT1A
(A75D)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
MAT1A
(L42fs)
Deletion
(frameshift variant)
Hepatic methionine adenosyltransferase deficiency
GPathogenic
MAT1A
(S12Y)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
MAT1A
Single nucleotide variant
(synonymous variant)
Hepatic methionine adenosyltransferase deficiency
GLikely benign
MAT1A
(A52V)
Indel
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
MAT1A
(P30L)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
MAT1A
Single nucleotide variant
(intron variant)
Hepatic methionine adenosyltransferase deficiency
GLikely benign
MAT1A
(I37T)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GPathogenic
LOC126860980, MAT1A
Single nucleotide variant
(splice acceptor variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
MAT1A
(K159Q)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
MAT1A
Single nucleotide variant
(synonymous variant)
Hepatic methionine adenosyltransferase deficiency
GLikely benign
MAT1A
Single nucleotide variant
(intron variant)
Hepatic methionine adenosyltransferase deficiency
GLikely benign
MAT1A
Single nucleotide variant
(intron variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
MAT1A
Single nucleotide variant
(synonymous variant)
Hepatic methionine adenosyltransferase deficiency
GLikely benign
MAT1A
Single nucleotide variant
(synonymous variant)
Hepatic methionine adenosyltransferase deficiency
GLikely benign
MAT1A
Single nucleotide variant
(intron variant)
Hepatic methionine adenosyltransferase deficiency
GLikely benign
MAT1A
Single nucleotide variant
(splice acceptor variant)
Hepatic methionine adenosyltransferase deficiency
GLikely pathogenic
MAT1A
(A281T)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
MAT1A
Single nucleotide variant
(intron variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
MAT1A
(N192S)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
MAT1A
(S114F)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
MAT1A
Single nucleotide variant
(synonymous variant)
Hepatic methionine adenosyltransferase deficiency
GLikely benign
MAT1A
(Y235*)
Single nucleotide variant
(nonsense)
Hepatic methionine adenosyltransferase deficiency
GPathogenic
MAT1A
(D179V)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
MAT1A
(M74V)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
MAT1A
Single nucleotide variant
(intron variant)
Hepatic methionine adenosyltransferase deficiency
GLikely benign
MAT1A
(V290I)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
MAT1A
Single nucleotide variant
(synonymous variant)
Hepatic methionine adenosyltransferase deficiency
GLikely benign
MAT1A
(V348fs)
Deletion
(frameshift variant)
Hepatic methionine adenosyltransferase deficiency
GPathogenic
MAT1A
Single nucleotide variant
(synonymous variant)
Hepatic methionine adenosyltransferase deficiency
GLikely benign
MAT1A
Single nucleotide variant
(intron variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
MAT1A
(E27K)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
MAT1A
Single nucleotide variant
(intron variant)
Hepatic methionine adenosyltransferase deficiency
GLikely benign
MAT1A
(K234T)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
MAT1A
Single nucleotide variant
(synonymous variant)
Hepatic methionine adenosyltransferase deficiency
GLikely benign
MAT1A
(S170P)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
MAT1A
(P174L)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
MAT1A
(H277Y)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
MAT1A
(A233T)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
MAT1A
Single nucleotide variant
(synonymous variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
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