"Baylor Genetics"[submitter] AND "AGXT"[gene] - ClinVar

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Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 204065	NM_000030.3(AGXT):c.2T>C (p.Met1Thr)	AGXT (M1T)	Single nucleotide variant (missense variant +1 more)	Primary hyperoxaluria, type I +2 more	GPathogenic/Likely pathogenic
Select item 140583	NM_000030.3(AGXT):c.33dup (p.Lys12fs)	AGXT (K12fs)	Duplication (frameshift variant)	not provided +4 more	GPathogenic
Select item 188775	NM_000030.3(AGXT):c.33del (p.Lys12fs)	AGXT (K12fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 204069	NM_000030.3(AGXT):c.32C>G (p.Pro11Arg)	AGXT (P11R)	Single nucleotide variant (missense variant)	Primary hyperoxaluria +2 more	GPathogenic/Likely pathogenic
Select item 188957	NM_000030.3(AGXT):c.106C>T (p.Arg36Cys)	AGXT (R36C)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I +1 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 204175	NM_000030.3(AGXT):c.116_117dup (p.Ala40fs)	AGXT (A40fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2203295	NM_000030.3(AGXT):c.121G>C (p.Gly41Arg)	AGXT (G41R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 204176	NM_000030.3(AGXT):c.126del (p.Leu43fs)	AGXT (L43fs)	Deletion (frameshift variant)	not provided +2 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 +2 more	GPathogenic
Select item 188985	NM_000030.3(AGXT):c.122G>T (p.Gly41Val)	AGXT (G41V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 204076	NM_000030.3(AGXT):c.139G>A (p.Gly47Arg)	AGXT (G47R)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I +1 more	GPathogenic
Select item 204077	NM_000030.3(AGXT):c.167T>A (p.Ile56Asn)	AGXT (I56N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1378865	NM_000030.3(AGXT):c.215A>T (p.Asn72Ile)	AGXT (N72I)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 204083	NM_000030.3(AGXT):c.242C>T (p.Ser81Leu)	AGXT (S81L)	Single nucleotide variant (missense variant)	Primary hyperoxaluria +3 more	GPathogenic/Likely pathogenic
Select item 204084	NM_000030.3(AGXT):c.244G>C (p.Gly82Arg)	AGXT (G82R)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I +1 more	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 2812393	NM_000030.3(AGXT):c.252_253del (p.Ala85fs)	AGXT (A85fs)	Microsatellite (frameshift variant)	Primary hyperoxaluria, type I +1 more	GPathogenic/Likely pathogenic
Select item 2675047	NM_000030.3(AGXT):c.268dup (p.Leu90fs)	AGXT (L90fs)	Duplication (frameshift variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 2675100	NM_000030.3(AGXT):c.283G>T (p.Glu95Ter)	AGXT (E95*)	Single nucleotide variant (nonsense)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 188866	NM_000030.3(AGXT):c.302T>C (p.Leu101Pro)	AGXT (L101P)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 188891	NM_000030.3(AGXT):c.322T>C (p.Trp108Arg)	AGXT (W108R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 204182	NM_000030.3(AGXT):c.327del (p.Gln110fs)	AGXT (Q110fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
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 204092	NM_000030.3(AGXT):c.332G>A (p.Arg111Gln)	AGXT (R111Q)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 189021	NM_000030.3(AGXT):c.346G>A (p.Gly116Arg)	AGXT (G116R)	Single nucleotide variant (missense variant)	Abnormality of metabolism/homeostasis +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 971513	NM_000030.3(AGXT):c.374_381del (p.Pro125fs)	AGXT (P125fs)	Deletion (frameshift variant)	Primary hyperoxaluria, type I +1 more	GPathogenic/Likely pathogenic
Select item 558526	NM_000030.3(AGXT):c.423+1G>A	AGXT	Single nucleotide variant (splice donor variant)	Primary hyperoxaluria, type I	GPathogenic/Likely pathogenic
Select item 2675085	NM_000030.3(AGXT):c.433del (p.Gln145fs)	AGXT (Q145fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 204185	NM_000030.3(AGXT):c.447_454del (p.Leu151fs)	AGXT (L151fs)	Deletion (frameshift variant)	Primary hyperoxaluria, type I +2 more	GPathogenic
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 204103	NM_000030.3(AGXT):c.473C>T (p.Ser158Leu)	AGXT (S158L)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I +1 more	GPathogenic/Likely pathogenic
Select item 204105	NM_000030.3(AGXT):c.481G>A (p.Gly161Ser)	AGXT (G161S)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 188738	NM_000030.3(AGXT):c.481G>T (p.Gly161Cys)	AGXT (G161C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2029609	NM_000030.3(AGXT):c.490C>T (p.Gln164Ter)	AGXT (Q164*)	Single nucleotide variant (nonsense)	Primary hyperoxaluria, type I +1 more	GPathogenic/Likely pathogenic
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 2675194	NM_000030.3(AGXT):c.517T>C (p.Cys173Arg)	AGXT (C173R)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GPathogenic/Likely pathogenic
Select item 551385	NM_000030.3(AGXT):c.524+2T>A	AGXT	Single nucleotide variant (splice donor variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 2156629	NM_000030.3(AGXT):c.525-2A>T	AGXT	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 204110	NM_000030.3(AGXT):c.533G>A (p.Cys178Tyr)	AGXT (C178Y)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 140584	NM_000030.3(AGXT):c.560C>T (p.Ser187Phe)	AGXT (S187F)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I +1 more	GPathogenic/Likely pathogenic
Select item 204190	NM_000030.3(AGXT):c.570del (p.Thr191fs)	AGXT (T191fs)	Deletion (frameshift variant)	Primary hyperoxaluria, type I +2 more	GPathogenic
Select item 189047	NM_000030.3(AGXT):c.568G>A (p.Gly190Arg)	AGXT (G190R)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I +1 more	GPathogenic/Likely pathogenic
Select item 204192	NM_000030.3(AGXT):c.577dup (p.Leu193fs)	AGXT (L193fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 204191	NM_000030.3(AGXT):c.577del (p.Leu193fs)	AGXT (L193fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 204115	NM_000030.3(AGXT):c.603C>A (p.Asp201Glu)	AGXT (D201E)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
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 204118	NM_000030.3(AGXT):c.614C>T (p.Ser205Leu)	AGXT (S205L)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 204194	NM_000030.3(AGXT):c.662_664del (p.Ser221del)	AGXT (S221del)	Deletion (inframe_deletion)	Primary hyperoxaluria, type I +2 more	GPathogenic/Likely pathogenic
Select item 204195	NM_000030.3(AGXT):c.679_680+2del	AGXT	Deletion (splice donor variant)	Primary hyperoxaluria, type I +1 more	GPathogenic
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 189035	NM_000030.3(AGXT):c.737G>A (p.Trp246Ter)	AGXT (W246*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 204199	NM_000030.3(AGXT):c.751_752delinsAA (p.Trp251Lys)	AGXT (W251K)	Indel (missense variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 204126	NM_000030.3(AGXT):c.757T>C (p.Cys253Arg)	AGXT (C253R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 188774	NM_000030.3(AGXT):c.777-1G>C	AGXT	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2675222	NM_000030.3(AGXT):c.807dup (p.Tyr270fs)	AGXT (Y270fs)	Duplication (frameshift variant)	Primary hyperoxaluria, type I	GPathogenic/Likely pathogenic
Select item 204201	NM_000030.3(AGXT):c.823_824dup (p.Ser275fs)	AGXT (S275fs)	Microsatellite (frameshift variant)	Primary hyperoxaluria +2 more	GPathogenic
Select item 204160	NM_000030.3(AGXT):c.846+1G>A	AGXT	Single nucleotide variant (splice donor variant)	Primary hyperoxaluria, type I	GPathogenic
Select item 204159	NM_000030.3(AGXT):c.846+1G>T	AGXT	Single nucleotide variant (splice donor variant)	Primary hyperoxaluria, type I +2 more	GPathogenic
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 2675032	NM_000030.3(AGXT):c.848del	AGXT	Deletion (splice acceptor variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 204168	NM_000030.3(AGXT):c.847-1G>C	AGXT	Single nucleotide variant (splice acceptor variant)	Primary hyperoxaluria +1 more	GPathogenic/Likely pathogenic
Select item 1456950	NM_000030.3(AGXT):c.942+1G>A	AGXT	Single nucleotide variant (splice donor variant)	Primary hyperoxaluria, type I +1 more	GPathogenic/Likely pathogenic
Select item 204170	NM_000030.3(AGXT):c.943-1G>T	AGXT	Single nucleotide variant (splice acceptor variant)	Primary hyperoxaluria, type I +1 more	GPathogenic/Likely pathogenic
Select item 631851	NM_000030.3(AGXT):c.949C>T (p.Arg317Trp)	AGXT (R317W)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I +1 more	GConflicting classifications of pathogenicity
Select item 189161	NM_000030.3(AGXT):c.976del (p.Val326fs)	AGXT (V326fs)	Deletion (frameshift variant)	Primary hyperoxaluria +2 more	GPathogenic/Likely pathogenic
Select item 204210	NM_000030.3(AGXT):c.983_988del (p.Ala328_Tyr330delinsAsp)	AGXT	Deletion (inframe_indel)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 204143	NM_000030.3(AGXT):c.1007T>A (p.Val336Asp)	AGXT (V336D)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I +1 more	GPathogenic/Likely pathogenic
Select item 2675235	NM_000030.3(AGXT):c.1014C>A (p.Tyr338Ter)	AGXT (Y338*)	Single nucleotide variant (nonsense)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 188986	NM_000030.3(AGXT):c.1049G>A (p.Gly350Asp)	AGXT (G350D)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2675209	NM_000030.3(AGXT):c.1072-1G>A	AGXT	Single nucleotide variant (splice acceptor variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 2203299	NM_000030.3(AGXT):c.1078C>T (p.Arg360Trp)	AGXT (R360W)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 204147	NM_000030.3(AGXT):c.1079G>A (p.Arg360Gln)	AGXT (R360Q)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 633034	NM_000030.3(AGXT):c.1084G>A (p.Gly362Ser)	AGXT (G362S)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I +2 more	GConflicting classifications of pathogenicity
Select item 204150	NM_000030.3(AGXT):c.1151T>C (p.Leu384Pro)	AGXT (L384P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2159394	NM_000030.3(AGXT):c.1161C>A (p.Cys387Ter)	AGXT (C387*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 625781	GRCh37/hg19 2q37.3(chr2:239071623-243048760)	TWIST2, ANKMY1 +43 more	Copy number loss	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 625780	GRCh37/hg19 2q37.3(chr2:238795602-242918203)	SCLY, SEPTIN2 +48 more	Copy number loss	Chromosome 2q37 deletion syndrome	GLikely pathogenic
Select item 625779	GRCh37/hg19 2q37.2-37.3(chr2:237028693-242708080)	OR6B2, PASK +56 more	Copy number loss	Chromosome 2q37 deletion syndrome	GPathogenic

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Items: 83