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Links from Gene

Items: 1 to 100 of 407

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MAT1A
(V106M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAT1A
(P232L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAT1A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MAT1A
Deletion
Hepatic methionine adenosyltransferase deficiency
GLikely pathogenic
MAT1A
(R163W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANXA11, MAT1A
+3 more
Duplication
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
ANXA11, MAT1A
+3 more
Deletion
Hepatic methionine adenosyltransferase deficiency
GPathogenic
MAT1A
Single nucleotide variant
(intron variant)
MAT1A-related disorder
GLikely benign
MAT1A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MAT1A
Single nucleotide variant
(intron variant)
Hepatic methionine adenosyltransferase deficiency
GLikely benign
LOC126860980, MAT1A
Single nucleotide variant
(intron variant)
Hepatic methionine adenosyltransferase deficiency
GLikely benign
MAT1A
(K289R)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
MAT1A
(F101L)
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
(intron variant)
Hepatic methionine adenosyltransferase deficiency
GLikely benign
MAT1A
Single nucleotide variant
(synonymous variant)
Hepatic methionine adenosyltransferase deficiency
GLikely benign
MAT1A
(G309R)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
MAT1A
Single nucleotide variant
(intron variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
MAT1A
(Y141C)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
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/Likely pathogenic
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)
not specified
+1 more
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
RRP12, RTKN2
+332 more
Copy number gain
not provided
GPathogenic
MAT1A
(T146A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAT1A
(N105K)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
GUncertain significance
ADIRF, ADIRF-AS1
+33 more
Copy number gain
See cases
GPathogenic
AGAP5, CRTAC1
+682 more
Copy number gain
Distal trisomy 10q
GPathogenic
ABRAXAS2, CHCHD1
+673 more
Copy number loss
Distal 10q deletion syndrome
GPathogenic
MAT1A
(R312W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAT1A
(Q317R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MAT1A
(K32N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MAT1A
(R343*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
MAT1A
(Y335H)
Single nucleotide variant
(missense variant)
Hepatic methionine adenosyltransferase deficiency
+1 more
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
(D49H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MAT1A
(A162G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MAT1A
(M189I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MAT1A
(T86I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
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
+2 more
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
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