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Items: 31

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MTHFR
Single nucleotide variant
(3 prime UTR variant)
not provided
GUncertain significance
MTHFR
Single nucleotide variant
(synonymous variant)
not specified
+6 more
GBenign/Likely benign
MTHFR
(T653M +1 more)
Single nucleotide variant
(missense variant)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
+3 more
GBenign/Likely benign
MTHFR
(R594Q +1 more)
Single nucleotide variant
(missense variant)
MTHFR-related condition
+3 more
GBenign/Likely benign; other
MTHFR
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
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
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MTHFR
(E511L +1 more)
Indel
(missense variant)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
+1 more
GConflicting classifications of pathogenicity
MTHFR
Single nucleotide variant
(synonymous variant)
MTHFR-related condition
+2 more
GConflicting classifications of pathogenicity
MTHFR
Single nucleotide variant
(synonymous variant)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
+1 more
GBenign
MTHFR
(E470A)
Single nucleotide variant
(missense variant)
MTHFR-related condition
+4 more
GBenign/Likely benign; other
MTHFR
(R388C +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MTHFR
(P355L +1 more)
Single nucleotide variant
(missense variant)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
+4 more
GUncertain significance
MTHFR
(R345H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MTHFR
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MTHFR
(E285K +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MTHFR
(S272F +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MTHFR
(H263P +1 more)
Single nucleotide variant
(missense variant)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
+1 more
GConflicting classifications of pathogenicity
MTHFR
Single nucleotide variant
(synonymous variant)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
+3 more
GConflicting classifications of pathogenicity
MTHFR
(D223N +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 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)
not provided
+1 more
GConflicting classifications of pathogenicity
MTHFR
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GBenign/Likely benign
MTHFR
Single nucleotide variant
(synonymous variant)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
+1 more
GConflicting classifications of pathogenicity
MTHFR
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GBenign/Likely benign
MTHFR
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign/Likely benign
MTHFR
(R51W +1 more)
Single nucleotide variant
(missense variant)
Schizophrenia
+4 more
GUncertain significance
MTHFR
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MTHFR
(S30L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MTHFR
(M1I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
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