"MTHFR-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 281891	NM_005957.5(MTHFR):c.1958C>T (p.Thr653Met)	MTHFR (T653M +1 more)	Single nucleotide variant (missense variant)	MTHFR-related disorder +3 more	GBenign/Likely benign
Select item 534628	NM_005957.5(MTHFR):c.1932C>A (p.Asn644Lys)	MTHFR (N644K +1 more)	Single nucleotide variant (missense variant)	MTHFR-related disorder +1 more	GBenign/Likely benign
Select item 194071	NM_005957.5(MTHFR):c.1781G>A (p.Arg594Gln)	MTHFR (R594Q +1 more)	Single nucleotide variant (missense variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency +3 more	GBenign/Likely benign; other
Select item 1561909	NM_005957.5(MTHFR):c.1753-25TG[2]	MTHFR	Microsatellite (intron variant)	MTHFR-related disorder +1 more	GLikely benign
Select item 695366	NM_005957.5(MTHFR):c.1719C>T (p.Thr573=)	MTHFR	Single nucleotide variant (synonymous variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency +3 more	GLikely benign
Select item 595780	NM_005957.5(MTHFR):c.1625A>C (p.Asn542Thr)	MTHFR (N542T +1 more)	Single nucleotide variant (missense variant)	MTHFR-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 193686	NM_005957.5(MTHFR):c.1556G>T (p.Arg519Leu)	MTHFR (R519L +1 more)	Single nucleotide variant (missense variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency +5 more	GConflicting classifications of pathogenicity
Select item 697065	NM_005957.5(MTHFR):c.1555C>T (p.Arg519Cys)	MTHFR (R560C +1 more)	Single nucleotide variant (missense variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency +4 more	GBenign/Likely benign
Select item 292235	NM_005957.5(MTHFR):c.1409A>T (p.Glu470Val)	MTHFR (E470V +1 more)	Single nucleotide variant (missense variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency +4 more	GLikely benign
Select item 791490	NM_005957.5(MTHFR):c.1408G>C (p.Glu470Gln)	MTHFR (E511Q +1 more)	Single nucleotide variant (missense variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency +1 more	GLikely benign
Select item 759303	NM_005957.5(MTHFR):c.1401G>A (p.Leu467=)	MTHFR	Single nucleotide variant (synonymous variant)	MTHFR-related disorder +1 more	GLikely benign
Select item 199115	NM_005957.5(MTHFR):c.1392C>T (p.Thr464=)	MTHFR	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3521	NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala)	MTHFR (E470A)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign; other
Select item 698868	NM_005957.5(MTHFR):c.1281T>C (p.Ser427=)	MTHFR	Single nucleotide variant (synonymous variant)	MTHFR-related disorder +1 more	GLikely benign
Select item 697100	NM_005957.5(MTHFR):c.1264G>A (p.Gly422Arg)	MTHFR (G463R +1 more)	Single nucleotide variant (missense variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency +1 more	GBenign
Select item 1160413	NM_005957.5(MTHFR):c.1158C>T (p.Asn386=)	MTHFR	Single nucleotide variant (synonymous variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency +1 more	GLikely benign
Select item 499432	NM_005957.5(MTHFR):c.1032-6A>G	MTHFR	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3047591	NM_005957.5(MTHFR):c.781-7T>C	MTHFR	Single nucleotide variant (intron variant)	MTHFR-related disorder	GLikely benign
Select item 2072122	NM_005957.5(MTHFR):c.780+3G>A	MTHFR	Single nucleotide variant (intron variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 696575	NM_005957.5(MTHFR):c.762C>T (p.Pro254=)	MTHFR	Single nucleotide variant (synonymous variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency +1 more	GLikely benign
Select item 695913	NM_005957.5(MTHFR):c.732C>T (p.Thr244=)	MTHFR	Single nucleotide variant (synonymous variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency +2 more	GBenign/Likely benign
Select item 287120	NM_005957.5(MTHFR):c.708C>T (p.Phe236=)	MTHFR	Single nucleotide variant (synonymous variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency +3 more	GConflicting classifications of pathogenicity
Select item 695805	NM_005957.5(MTHFR):c.513C>A (p.Gly171=)	MTHFR	Single nucleotide variant (synonymous variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency +1 more	GLikely benign
Select item 2189756	NM_005957.5(MTHFR):c.395G>A (p.Arg132His)	MTHFR (R132H +2 more)	Single nucleotide variant (missense variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency +1 more	GUncertain significance
Select item 572237	NM_005957.5(MTHFR):c.330G>C (p.Met110Ile)	MTHFR (M110I +1 more)	Single nucleotide variant (missense variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency +1 more	GUncertain significance
Select item 593575	NM_005957.5(MTHFR):c.236+3A>G	MTHFR	Single nucleotide variant (intron variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency +3 more	GBenign/Likely benign
Select item 3045632	NM_005957.5(MTHFR):c.-13-9C>T	MTHFR	Single nucleotide variant (intron variant)	MTHFR-related disorder	GLikely benign
Select item 3057602	NM_005957.5(MTHFR):c.-13-284T>C	MTHFR	Single nucleotide variant (synonymous variant +1 more)	MTHFR-related disorder	GLikely benign
Select item 3046533	NM_005957.5(MTHFR):c.-13-380C>T	MTHFR	Single nucleotide variant (synonymous variant +1 more)	MTHFR-related disorder	GLikely benign
Select item 3038763	NM_005957.5(MTHFR):c.-13-380C>A	MTHFR (D2E)	Single nucleotide variant (missense variant +1 more)	MTHFR-related disorder	GBenign

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Items: 30