"OMIM"[submitter] AND "AGXT"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 140583	NM_000030.3(AGXT):c.33dup (p.Lys12fs)	AGXT (K12fs)	Duplication (frameshift variant)	not provided +4 more	GPathogenic
Select item 5641	NM_000030.3(AGXT):c.32C>T (p.Pro11Leu)	AGXT (P11L)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I +2 more	GBenign/Likely benign
Select item 5644	NM_000030.3(AGXT):c.121G>A (p.Gly41Arg)	AGXT (G41R)	Single nucleotide variant (missense variant)	Primary hyperoxaluria +2 more	GPathogenic
Select item 5642	NM_000030.3(AGXT):c.198C>G (p.Tyr66Ter)	AGXT (Y66*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 5643	NM_000030.3(AGXT):c.245G>A (p.Gly82Glu)	AGXT (G82E)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I +2 more	GPathogenic/Likely pathogenic
Select item 5645	NM_000030.3(AGXT):c.454T>A (p.Phe152Ile)	AGXT (F152I)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 5650	NM_000030.3(AGXT):c.466G>A (p.Gly156Arg)	AGXT (G156R)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 40166	NM_000030.3(AGXT):c.508G>A (p.Gly170Arg)	AGXT (G170R)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I +2 more	GPathogenic/Likely pathogenic
Select item 5640	NM_000030.3(AGXT):c.613T>C (p.Ser205Pro)	AGXT (S205P)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I +1 more	GPathogenic/Likely pathogenic
Select item 5647	NM_000030.3(AGXT):c.697C>T (p.Arg233Cys)	AGXT (R233C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 5648	NM_000030.3(AGXT):c.698G>A (p.Arg233His)	AGXT (R233H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 5646	NM_000030.3(AGXT):c.731T>C (p.Ile244Thr)	AGXT (I244T)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 5649	NM_000030.3(AGXT):c.738G>A (p.Trp246Ter)	AGXT (W246*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 39486	NM_000030.3(AGXT):c.1020A>G (p.Ile340Met)	AGXT (I340M)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign