Related gene-specific medical variations for Gene (Select 100528021) - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2875670	NM_006441.4(MTHFS):c.10_25dup (p.Ala9fs)	ST20-MTHFS, MTHFS (A9fs)	Duplication (frameshift variant +2 more)	Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination +1 more	GPathogenic
Select item 2766468	NM_006441.4(MTHFS):c.516G>C (p.Ala172=)	MTHFS, ST20-MTHFS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2488857	NM_006441.4(MTHFS):c.95A>T (p.Gln32Leu)	MTHFS, ST20-MTHFS (Q32L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2471388	NM_001199760.2(ST20-MTHFS):c.173G>A (p.Arg58Gln)	MTHFS, ST20-MTHFS (R82Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459765	NM_006441.4(MTHFS):c.13G>T (p.Ala5Ser)	MTHFS, ST20-MTHFS (A5S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2428651	NM_006441.4(MTHFS):c.35G>A (p.Ser12Asn)	MTHFS, ST20-MTHFS (S12N)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2420564	NM_006441.4(MTHFS):c.220C>T (p.Arg74Ter)	MTHFS, ST20-MTHFS (R17* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2332611	NM_006441.4(MTHFS):c.22A>G (p.Ser8Gly)	MTHFS, ST20-MTHFS (S8G)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2172346	NM_006441.4(MTHFS):c.335C>T (p.Pro112Leu)	MTHFS, ST20-MTHFS (P88L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2169809	NM_006441.4(MTHFS):c.592G>A (p.Glu198Lys)	MTHFS, ST20-MTHFS (E141K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2156507	NM_006441.4(MTHFS):c.293C>T (p.Pro98Leu)	MTHFS, ST20-MTHFS (P98L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2144957	NM_006441.4(MTHFS):c.150A>G (p.Lys50=)	MTHFS, ST20-MTHFS	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2130630	NM_006441.4(MTHFS):c.118-18C>T	MTHFS, ST20-MTHFS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2105480	NM_006441.4(MTHFS):c.605C>T (p.Thr202Ile)	MTHFS, ST20-MTHFS (T202I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2093033	NM_006441.4(MTHFS):c.359G>A (p.Arg120Gln)	MTHFS, ST20-MTHFS (R96Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2076613	NM_006441.4(MTHFS):c.378A>G (p.Thr126=)	MTHFS, ST20-MTHFS	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2073895	NM_006441.4(MTHFS):c.250C>T (p.Arg84Trp)	MTHFS, ST20-MTHFS (R60W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2072759	NM_006441.4(MTHFS):c.251G>A (p.Arg84Gln)	MTHFS, ST20-MTHFS (R27Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2071608	NM_006441.4(MTHFS):c.84G>A (p.Glu28=)	MTHFS, ST20-MTHFS	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2069160	NM_006441.4(MTHFS):c.355G>C (p.Val119Leu)	MTHFS, ST20-MTHFS (V119L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2067208	NM_006441.4(MTHFS):c.36C>A (p.Ser12Arg)	MTHFS, ST20-MTHFS (S12R)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2064299	NM_006441.4(MTHFS):c.377C>T (p.Thr126Ile)	MTHFS, ST20-MTHFS (T102I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2055072	NM_006441.4(MTHFS):c.88C>T (p.Leu30=)	MTHFS, ST20-MTHFS	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2054000	NM_006441.4(MTHFS):c.320C>T (p.Thr107Ile)	MTHFS, ST20-MTHFS (T50I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2053567	NM_006441.4(MTHFS):c.380-5C>T	MTHFS, ST20-MTHFS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2038995	NM_006441.4(MTHFS):c.14C>T (p.Ala5Val)	MTHFS, ST20-MTHFS (A5V)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2038284	NM_006441.4(MTHFS):c.604A>G (p.Thr202Ala)	MTHFS, ST20-MTHFS (T178A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2037477	NM_006441.4(MTHFS):c.101G>T (p.Arg34Leu)	MTHFS, ST20-MTHFS (R34L)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2022150	NM_006441.4(MTHFS):c.71T>C (p.Met24Thr)	MTHFS, ST20-MTHFS (M24T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2021495	NM_006441.4(MTHFS):c.76G>A (p.Ala26Thr)	MTHFS, ST20-MTHFS (A26T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1995722	NM_006441.4(MTHFS):c.28A>C (p.Lys10Gln)	MTHFS, ST20-MTHFS (K10Q)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1976175	NM_006441.4(MTHFS):c.244C>T (p.Arg82Trp)	MTHFS, ST20-MTHFS (R25W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1974883	NM_006441.4(MTHFS):c.565G>A (p.Asp189Asn)	MTHFS, ST20-MTHFS (D132N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1974427	NM_006441.4(MTHFS):c.283A>G (p.Ile95Val)	MTHFS, ST20-MTHFS (I95V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1973992	NM_006441.4(MTHFS):c.117+12C>T	MTHFS, ST20-MTHFS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1915576	NM_006441.4(MTHFS):c.564C>T (p.Asn188=)	MTHFS, ST20-MTHFS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1914723	NM_006441.4(MTHFS):c.172A>G (p.Met58Val)	MTHFS, ST20-MTHFS (M58V +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1675582	NM_006441.4(MTHFS):c.117+7G>C	MTHFS, ST20-MTHFS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign/Likely benign
Select item 1344538	NM_006441.4(MTHFS):c.316A>T (p.Lys106Ter)	MTHFS, ST20-MTHFS (K106* +2 more)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination	GPathogenic
Select item 1305517	NM_006441.4(MTHFS):c.35G>T (p.Ser12Ile)	MTHFS, ST20-MTHFS (S12I)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 1298631	NM_006441.4(MTHFS):c.54G>A (p.Lys18=)	MTHFS, ST20-MTHFS	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign/Likely benign
Select item 1050731	NM_006441.4(MTHFS):c.104T>C (p.Val35Ala)	MTHFS, ST20-MTHFS (V35A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 787962	NM_006441.4(MTHFS):c.420C>T (p.Asp140=)	MTHFS, ST20-MTHFS	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 733522	NR_037652.2(ST20):n.378_379insT	ST20, ST20-MTHFS	Insertion (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 624594	NM_006441.4(MTHFS):c.107T>C (p.Leu36Pro)	MTHFS, ST20-MTHFS (L36P)	Single nucleotide variant (missense variant +2 more)	Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination	GPathogenic
Select item 522831	NM_006441.4(MTHFS):c.434G>A (p.Arg145Gln)	MTHFS, ST20-MTHFS (R145Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 522830	NM_006441.4(MTHFS):c.484C>T (p.Gln162Ter)	MTHFS, ST20-MTHFS (Q105* +2 more)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination	GLikely pathogenic

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Links from Gene

Items: 47