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Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
C1orf167, MTHFR
(S1275N)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
MTHFR
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
MTHFR
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
MTHFR
Single nucleotide variant
(synonymous variant)
not specified
+6 more
GBenign/Likely benign
MTHFR
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MTHFR
Single nucleotide variant
(synonymous variant)
MTHFR-related condition
+3 more
GLikely benign
MTHFR
(N542T +1 more)
Single nucleotide variant
(missense variant)
MTHFR-related condition
+2 more
GConflicting classifications of pathogenicity
MTHFR
(R519L +1 more)
Single nucleotide variant
(missense variant)
MTHFR-related condition
+5 more
GConflicting classifications of pathogenicity
MTHFR
(W500* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
MTHFR
(I488V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MTHFR
(R476C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MTHFR
(E511L +1 more)
Indel
(missense variant)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
+1 more
GConflicting classifications of pathogenicity
MTHFR
(E470A)
Single nucleotide variant
(missense variant)
MTHFR-related condition
+4 more
GBenign/Likely benign; other
MTHFR
(R388H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MTHFR
(R388C +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MTHFR
(R377C +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MTHFR
(A222V +1 more)
Single nucleotide variant
(missense variant)
methotrexate response - Toxicity
Gdrug response
MTHFR
Single nucleotide variant
(synonymous variant)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
+1 more
GLikely benign
MTHFR
(R183Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
MTHFR
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
MTHFR
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign/Likely benign
MTHFR
(V28M)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MTHFR
Single nucleotide variant
(genic upstream transcript variant)
not provided
GUncertain significance
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