ClinVar for MedGen (Select 1615364) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2433814	NM_005956.4(MTHFD1):c.881T>C (p.Phe294Ser)	MTHFD1 (F294S)	Single nucleotide variant (missense variant)	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia	GUncertain significance
Select item 2431552	NM_005956.4(MTHFD1):c.479-2A>G	MTHFD1	Single nucleotide variant (splice acceptor variant)	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia	GLikely pathogenic
Select item 1425888	NM_005956.4(MTHFD1):c.1913C>T (p.Pro638Leu)	MTHFD1 (P638L)	Single nucleotide variant (missense variant)	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia +2 more	GUncertain significance
Select item 1415904	NM_005956.4(MTHFD1):c.983C>T (p.Pro328Leu)	MTHFD1 (P328L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1321176	NM_005956.4(MTHFD1):c.2136+31G>A	MTHFD1	Single nucleotide variant (intron variant)	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia	GBenign
Select item 1053697	NM_005956.4(MTHFD1):c.1390A>G (p.Ile464Val)	MTHFD1 (I464V)	Single nucleotide variant (missense variant)	Neural tube defects, folate-sensitive +2 more	GUncertain significance
Select item 1030041	NM_005956.4(MTHFD1):c.1265-4C>T	LOC112272548, MTHFD1	Single nucleotide variant (intron variant)	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia +1 more	GConflicting classifications of pathogenicity
Select item 992516	NM_005956.4(MTHFD1):c.109C>T (p.Arg37Cys)	MTHFD1 (R37C)	Single nucleotide variant (missense variant)	Neural tube defects, folate-sensitive +1 more	GUncertain significance
Select item 446309	NM_005956.4(MTHFD1):c.152T>C (p.Leu51Pro)	MTHFD1 (L51P)	Single nucleotide variant (missense variant)	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia	GLikely pathogenic
Select item 446308	NG_012450.1:g.(45534_?)_(?_47555)del	MTHFD1	Deletion	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia	GPathogenic
Select item 446307	NM_005956.4(MTHFD1):c.673G>T (p.Glu225Ter)	MTHFD1 (E225*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 446306	NM_005956.4(MTHFD1):c.146C>T (p.Ser49Phe)	MTHFD1 (S49F)	Single nucleotide variant (missense variant)	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia +2 more	GPathogenic/Likely pathogenic
Select item 446305	NM_005956.4(MTHFD1):c.1674G>A (p.Thr558=)	MTHFD1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia	GPathogenic
Select item 446304	NM_005956.4(MTHFD1):c.806C>T (p.Thr269Ile)	MTHFD1 (T269I)	Single nucleotide variant (missense variant)	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia	GLikely pathogenic
Select item 446303	NM_005956.4(MTHFD1):c.517C>T (p.Arg173Cys)	MTHFD1 (R173C)	Single nucleotide variant (missense variant)	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia +2 more	GConflicting classifications of pathogenicity
Select item 446302	NM_005956.4(MTHFD1):c.727+1G>A	MTHFD1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 403114	NM_005956.4(MTHFD1):c.401A>G (p.Lys134Arg)	MTHFD1 (K134R)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 218676	NM_005956.4(MTHFD1):c.1493A>C (p.Lys498Thr)	MTHFD1 (K498T)	Single nucleotide variant (missense variant)	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia +1 more	GUncertain significance
Select item 208193	NM_005956.4(MTHFD1):c.826G>C (p.Gly276Arg)	MTHFD1 (G276R)	Single nucleotide variant (missense variant)	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia	GPathogenic
Select item 13633	NM_005956.4(MTHFD1):c.1958G>A (p.Arg653Gln)	MTHFD1 (R653Q)	Single nucleotide variant (missense variant)	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia +2 more	GBenign/Likely benign
Select item 13632	NM_005956.4(MTHFD1):c.878G>A (p.Arg293His)	MTHFD1 (R293H)	Single nucleotide variant (missense variant)	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia +2 more	GConflicting classifications of pathogenicity

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Items: 21