"Revvity Omics, Revvity"[submitter] AND "AGXT"[gene] - ClinVar

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Items: 22

	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 204069	NM_000030.3(AGXT):c.32C>G (p.Pro11Arg)	AGXT (P11R)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 204072	NM_000030.3(AGXT):c.107G>A (p.Arg36His)	AGXT (R36H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 5644	NM_000030.3(AGXT):c.121G>A (p.Gly41Arg)	AGXT (G41R)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I +2 more	GPathogenic
Select item 983726	NM_000030.3(AGXT):c.198C>A (p.Tyr66Ter)	AGXT (Y66*)	Single nucleotide variant (nonsense)	Primary hyperoxaluria, type I	GPathogenic/Likely pathogenic
Select item 188866	NM_000030.3(AGXT):c.302T>C (p.Leu101Pro)	AGXT (L101P)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I +1 more	GPathogenic/Likely pathogenic
Select item 1323866	NM_000030.3(AGXT):c.305T>A (p.Val102Asp)	AGXT (V102D)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 188891	NM_000030.3(AGXT):c.322T>C (p.Trp108Arg)	AGXT (W108R)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I +1 more	GPathogenic/Likely pathogenic
Select item 204091	NM_000030.3(AGXT):c.331C>T (p.Arg111Ter)	AGXT (R111*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 204093	NM_000030.3(AGXT):c.335C>A (p.Ala112Asp)	AGXT (A112D)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I +2 more	GPathogenic/Likely pathogenic
Select item 204097	NM_000030.3(AGXT):c.364C>T (p.Arg122Ter)	AGXT (R122*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 204185	NM_000030.3(AGXT):c.447_454del (p.Leu151fs)	AGXT (L151fs)	Deletion (frameshift 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 189047	NM_000030.3(AGXT):c.568G>A (p.Gly190Arg)	AGXT (G190R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 204113	NM_000030.3(AGXT):c.584T>G (p.Met195Arg)	AGXT (M195R)	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)	Primary hyperoxaluria, type I +2 more	GPathogenic
Select item 1323868	NM_000030.3(AGXT):c.838del (p.Ala280fs)	AGXT (A280fs)	Deletion (frameshift variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 204169	NM_000030.3(AGXT):c.847-3C>G	AGXT	Single nucleotide variant (intron variant)	Primary hyperoxaluria, type I +1 more	GPathogenic/Likely pathogenic
Select item 204209	NM_000030.3(AGXT):c.971_972del (p.Val324fs)	AGXT (V324fs)	Microsatellite (frameshift variant)	Primary hyperoxaluria, type I +1 more	GPathogenic
Select item 951893	NM_000030.3(AGXT):c.973del (p.Ala325fs)	AGXT (A325fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 204142	NM_000030.3(AGXT):c.997A>T (p.Arg333Ter)	AGXT (R333*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 204143	NM_000030.3(AGXT):c.1007T>A (p.Val336Asp)	AGXT (V336D)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic

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Items: 22