C0268164[trait identifier] AND "Counsyl"[submitter] - ClinVar

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Items: 58

	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 188775	NM_000030.3(AGXT):c.33del (p.Lys12fs)	AGXT (K12fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 554506	NM_000030.3(AGXT):c.82C>T (p.Pro28Ser)	AGXT (P28S)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GUncertain significance
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 204175	NM_000030.3(AGXT):c.116_117dup (p.Ala40fs)	AGXT (A40fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 554314	NM_000030.3(AGXT):c.126dup (p.Leu43fs)	AGXT (L43fs)	Duplication (frameshift variant)	Primary hyperoxaluria, type I	GPathogenic/Likely pathogenic
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 204075	NM_000030.3(AGXT):c.130C>T (p.Gln44Ter)	AGXT (Q44*)	Single nucleotide variant (nonsense)	Primary hyperoxaluria, type I	GPathogenic/Likely pathogenic
Select item 550334	NM_000030.3(AGXT):c.145A>C (p.Met49Leu)	AGXT (M49L)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 204026	NM_000030.3(AGXT):c.165+40A>C	AGXT	Single nucleotide variant (intron variant)	Primary hyperoxaluria, type I +1 more	GBenign/Likely benign
Select item 204178	NM_000030.3(AGXT):c.221_227dup (p.Val77fs)	AGXT (V77fs)	Duplication (frameshift variant)	Primary hyperoxaluria, type I	GLikely pathogenic
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 551383	NM_000030.3(AGXT):c.260_271del (p.Glu87_Leu90del)	AGXT	Deletion (inframe_deletion)	Primary hyperoxaluria, type I +1 more	GUncertain significance
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 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 557281	NM_000030.3(AGXT):c.406_410dup (p.Gln137fs)	AGXT (Q137fs)	Duplication (frameshift variant)	Primary hyperoxaluria, type I	GPathogenic
Select item 553340	NM_000030.3(AGXT):c.423G>C (p.Glu141Asp)	AGXT (E141D)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GConflicting classifications of pathogenicity
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 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 552979	NM_000030.3(AGXT):c.466G>C (p.Gly156Arg)	AGXT (G156R)	Single nucleotide variant (missense variant)	not provided +1 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 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 551385	NM_000030.3(AGXT):c.524+2T>A	AGXT	Single nucleotide variant (splice donor variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 204165	NM_000030.3(AGXT):c.525-1G>A	AGXT	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
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 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 204191	NM_000030.3(AGXT):c.577del (p.Leu193fs)	AGXT (L193fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 204166	NM_000030.3(AGXT):c.596-2A>G	AGXT	Single nucleotide variant (splice acceptor variant)	Primary hyperoxaluria, type I	GPathogenic
Select item 188979	NM_000030.3(AGXT):c.653C>T (p.Ser218Leu)	AGXT (S218L)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I +1 more	GPathogenic/Likely pathogenic
Select item 370958	NM_000030.3(AGXT):c.673_676del (p.Lys225fs)	AGXT (K225fs)	Deletion (frameshift variant)	Primary hyperoxaluria, type I +1 more	GPathogenic/Likely pathogenic
Select item 551296	NM_000030.3(AGXT):c.681-1G>T	AGXT	Single nucleotide variant (splice acceptor variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 556788	NM_000030.3(AGXT):c.683AGA[3] (p.Lys229dup)	AGXT	Microsatellite (inframe_insertion)	Primary hyperoxaluria, type I	GUncertain significance
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 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 188898	NM_000030.3(AGXT):c.752G>A (p.Trp251Ter)	AGXT (W251*)	Single nucleotide variant (nonsense)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 550885	NM_000030.3(AGXT):c.776+2T>G	AGXT	Single nucleotide variant (splice donor variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 550408	NM_000030.3(AGXT):c.777-17C>A	AGXT	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
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 555895	NM_000030.3(AGXT):c.781C>G (p.His261Asp)	AGXT (H261D)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I +1 more	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 558509	NM_000030.3(AGXT):c.847-2_847-1del	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 204055	NM_000030.3(AGXT):c.865C>T (p.Arg289Cys)	AGXT (R289C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 198982	NM_000030.3(AGXT):c.866G>A (p.Arg289His)	AGXT (R289H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 204135	NM_000030.3(AGXT):c.891T>G (p.Tyr297Ter)	AGXT (Y297*)	Single nucleotide variant (nonsense)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 204137	NM_000030.3(AGXT):c.907C>T (p.Gln303Ter)	AGXT (Q303*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 335300	NM_000030.3(AGXT):c.942+14T>G	AGXT	Single nucleotide variant (intron variant)	Primary hyperoxaluria, type I	GConflicting classifications of pathogenicity
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 189161	NM_000030.3(AGXT):c.976del (p.Val326fs)	AGXT (V326fs)	Deletion (frameshift variant)	Primary hyperoxaluria +2 more	GPathogenic/Likely pathogenic
Select item 204141	NM_000030.3(AGXT):c.996G>A (p.Trp332Ter)	AGXT (W332*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely 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 204059	NM_000030.3(AGXT):c.1072-91G>A	AGXT	Single nucleotide variant (intron variant)	Primary hyperoxaluria, type I	GUncertain significance
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 551411	NM_000030.3(AGXT):c.*39G>A	AGXT	Single nucleotide variant (3 prime UTR variant)	Primary hyperoxaluria, type I	GUncertain significance

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Items: 58