C0342705[trait identifier] AND "OMIM"[submitter] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 854	NM_080669.6(SLC46A1):c.1126C>T (p.Arg376Trp)	SLC46A1, SARM1 (R376W)	Single nucleotide variant (missense variant +2 more)	Congenital defect of folate absorption	GPathogenic
Select item 850	NM_080669.6(SLC46A1):c.1082-1G>A	SARM1, SLC46A1	Single nucleotide variant (3 prime UTR variant +2 more)	Congenital defect of folate absorption +2 more	GPathogenic
Select item 30925	NM_080669.6(SLC46A1):c.1012G>C (p.Gly338Arg)	SLC46A1 (G338R)	Single nucleotide variant (missense variant)	Congenital defect of folate absorption	GPathogenic
Select item 30923	NM_080669.6(SLC46A1):c.1004C>A (p.Ala335Asp)	SLC46A1 (A335D)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 853	NM_080669.6(SLC46A1):c.954C>G (p.Ser318Arg)	SLC46A1 (S318R)	Single nucleotide variant (missense variant)	Congenital defect of folate absorption	GPathogenic
Select item 855	NM_080669.6(SLC46A1):c.337C>T (p.Arg113Cys)	SLC46A1 (R113C)	Single nucleotide variant (missense variant)	Congenital defect of folate absorption	GPathogenic
Select item 852	NM_080669.6(SLC46A1):c.337C>A (p.Arg113Ser)	SLC46A1 (R113S)	Single nucleotide variant (missense variant)	Congenital defect of folate absorption	GPathogenic
Select item 30924	NM_080669.6(SLC46A1):c.204_205del (p.Asn68fs)	SLC46A1 (N68fs)	Deletion (frameshift variant)	Congenital defect of folate absorption	GPathogenic
Select item 851	NM_080669.6(SLC46A1):c.194del (p.Gly65fs)	SLC46A1 (G65fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 30922	NM_080669.6(SLC46A1):c.23dup (p.Glu9fs)	LOC130060550, SLC46A1 (E9fs)	Duplication (frameshift variant)	Congenital defect of folate absorption	GPathogenic