ClinVar for MedGen (Select 75658) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359184	NM_000030.3(AGXT):c.121G>T (p.Gly41Trp)	AGXT (G41W)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 3359183	NM_000030.3(AGXT):c.1072-2A>G	AGXT	Single nucleotide variant (splice acceptor variant)	Primary hyperoxaluria, type I	GPathogenic
Select item 3359182	NM_000030.3(AGXT):c.507_508insA (p.Gly170fs)	AGXT (G170fs)	Insertion (frameshift variant)	Primary hyperoxaluria, type I	GPathogenic
Select item 3359181	NM_000030.3(AGXT):c.638C>T (p.Ala213Val)	AGXT (A213V)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 3359180	NC_000002.11:g.241816942_241835597del	AGXT, MAB21L4	Deletion	Primary hyperoxaluria, type I	GPathogenic
Select item 3359179	NM_000030.3(AGXT):c.872A>C (p.His291Pro)	AGXT (H291P)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 3359178	NM_000030.3(AGXT):c.910del (p.Ala304fs)	AGXT (A304fs)	Deletion (frameshift variant)	Primary hyperoxaluria, type I	GPathogenic
Select item 3358971	NM_000030.3(AGXT):c.1036G>A (p.Glu346Lys)	AGXT (E346K)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GUncertain significance
Select item 3254700	NM_000030.3(AGXT):c.1045_1046delinsAA (p.Gly349Asn)	AGXT (G349N)	Indel (missense variant)	Primary hyperoxaluria, type I	GUncertain significance
Select item 3235061	NM_000030.3(AGXT):c.719_721del (p.Phe240del)	AGXT (F240del)	Deletion (inframe_deletion)	Primary hyperoxaluria, type I	GUncertain significance
Select item 3065243	NM_000030.3(AGXT):c.680+3G>C	AGXT	Single nucleotide variant (intron variant)	Primary hyperoxaluria, type I	GUncertain significance
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 2681194	NM_000030.3(AGXT):c.139G>C (p.Gly47Arg)	AGXT (G47R)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 2681193	NM_000030.3(AGXT):c.[32C>T;836T>C]	AGXT (P11L +1 more)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GPathogenic
Select item 2681192	NM_000030.3(AGXT):c.830delinsAA (p.Ala277fs)	AGXT (A277fs)	Indel (frameshift variant)	Primary hyperoxaluria, type I	GPathogenic
Select item 2681191	NM_000030.3(AGXT):c.827T>A (p.Leu276Gln)	AGXT (L276Q)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GUncertain significance
Select item 2681190	NM_000030.3(AGXT):c.80G>A (p.Gly27Glu)	AGXT (G27E)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GUncertain significance
Select item 2681189	NM_000030.3(AGXT):c.826_827delinsGA (p.Leu276Glu)	AGXT (L276E)	Indel (missense variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 2681188	NM_000030.3(AGXT):c.799A>T (p.Ile267Phe)	AGXT (I267F)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GUncertain significance
Select item 2681187	NM_000030.3(AGXT):c.733_734del (p.Lys245fs)	AGXT (K245fs)	Deletion (frameshift variant)	Primary hyperoxaluria, type I	GPathogenic
Select item 2681186	NM_000030.3(AGXT):c.682_683delAA (p.Lys228fs)	AGXT (K228fs)	Deletion (frameshift variant)	Primary hyperoxaluria, type I	GPathogenic
Select item 2681185	NM_000030.3(AGXT):c.681-1G>A	AGXT	Single nucleotide variant (splice acceptor variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 2681184	NM_000030.3(AGXT):c.680+1G>T	AGXT	Single nucleotide variant (splice donor variant)	Primary hyperoxaluria, type I	GPathogenic
Select item 2681183	NM_000030.3(AGXT):c.52C>T (p.Leu18Phe)	AGXT (L18F)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GUncertain significance
Select item 2681182	NM_000030.3(AGXT):c.667A>C (p.Ser223Arg)	AGXT (S223R)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 2681181	NM_000030.3(AGXT):c.632T>G (p.Leu211Arg)	AGXT (L211R)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 2681180	NM_000030.3(AGXT):c.627G>T (p.Lys209Asn)	AGXT (K209N)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 2681179	NM_000030.3(AGXT):c.622C>T (p.Gln208Ter)	AGXT (Q208*)	Single nucleotide variant (nonsense)	Primary hyperoxaluria, type I	GPathogenic
Select item 2681178	NM_000030.3(AGXT):c.602A>T (p.Asp201Val)	AGXT (D201V)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 2681177	NM_000030.3(AGXT):c.597_601del (p.Ile200fs)	AGXT (I200fs)	Deletion (frameshift variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 2681176	NM_000030.3(AGXT):c.595+2T>G	AGXT	Single nucleotide variant (splice donor variant)	Primary hyperoxaluria, type I	GPathogenic
Select item 2681175	NM_000030.3(AGXT):c.595+1G>A	AGXT	Single nucleotide variant (splice donor variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 2681174	NM_000030.3(AGXT):c.40dup (p.Leu14fs)	AGXT (L14fs)	Duplication (frameshift variant)	Primary hyperoxaluria, type I	GPathogenic
Select item 2681173	NM_000030.3(AGXT):c.593A>C (p.Gln198Pro)	AGXT (Q198P)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GPathogenic
Select item 2681172	NM_000030.3(AGXT):c.569_570insA (p.Thr191fs)	AGXT (T191fs)	Insertion (frameshift variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 2681171	NM_000030.3(AGXT):c.551C>A (p.Ser184Ter)	AGXT (S184*)	Single nucleotide variant (nonsense)	Primary hyperoxaluria, type I	GPathogenic
Select item 2681170	NM_000030.3(AGXT):c.536T>C (p.Leu179Pro)	AGXT (L179P)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GUncertain significance
Select item 2681169	NM_000030.3(AGXT):c.482G>A (p.Gly161Asp)	AGXT (G161D)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 2681168	NM_000030.3(AGXT):c.469G>C (p.Glu157Gln)	AGXT (E157Q)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 2681167	NM_000030.3(AGXT):c.458T>A (p.Leu153Ter)	AGXT (L153*)	Single nucleotide variant (nonsense)	Primary hyperoxaluria, type I	GPathogenic
Select item 2681166	NM_000030.3(AGXT):c.423+2T>C	AGXT	Single nucleotide variant (splice donor variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 2681165	NM_000030.3(AGXT):c.389del (p.Pro130fs)	AGXT (P130fs)	Deletion (frameshift variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 2681164	NM_000030.3(AGXT):c.359-2A>G	AGXT	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 2681163	NM_000030.3(AGXT):c.346G>T (p.Gly116Trp)	AGXT (G116W)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GPathogenic
Select item 2681162	NM_000030.3(AGXT):c.326G>A (p.Gly109Glu)	AGXT (G109E)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 2681161	NM_000030.3(AGXT):c.285G>T (p.Glu95Asp)	AGXT (E95D)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GUncertain significance
Select item 2681160	NM_000030.3(AGXT):c.28_29delinsA (p.Pro10fs)	AGXT (P10fs)	Indel (frameshift variant)	Primary hyperoxaluria, type I	GPathogenic
Select item 2681159	NM_000030.3(AGXT):c.265G>A (p.Ala89Thr)	AGXT (A89T)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GUncertain significance
Select item 2681158	NM_000030.3(AGXT):c.245_249delinsAGA (p.Gly82fs)	AGXT (G82fs)	Indel (frameshift variant)	Primary hyperoxaluria, type I	GPathogenic
Select item 2681157	NM_000030.3(AGXT):c.244G>A (p.Gly82Arg)	AGXT (G82R)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 2681156	NM_000030.3(AGXT):c.242C>G (p.Ser81Trp)	AGXT (S81W)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 2681155	NM_000030.3(AGXT):c.238_239insTTGCCAA (p.Gly80fs)	AGXT (G80fs)	Insertion (frameshift variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 2681154	NM_000030.3(AGXT):c.224C>A (p.Thr75Lys)	AGXT (T75K)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GUncertain significance
Select item 2681153	NM_000030.3(AGXT):c.140G>A (p.Gly47Glu)	AGXT (G47E)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 2681152	NM_000030.3(AGXT):c.23_24delinsAT (p.Val8Asp)	AGXT (V8D)	Indel (missense variant)	Primary hyperoxaluria, type I	GLikely 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 2675222	NM_000030.3(AGXT):c.807dup (p.Tyr270fs)	AGXT (Y270fs)	Duplication (frameshift variant)	Primary hyperoxaluria, type I	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 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 2675100	NM_000030.3(AGXT):c.283G>T (p.Glu95Ter)	AGXT (E95*)	Single nucleotide variant (nonsense)	Primary hyperoxaluria, type I	GLikely 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 2675047	NM_000030.3(AGXT):c.268dup (p.Leu90fs)	AGXT (L90fs)	Duplication (frameshift variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 2675032	NM_000030.3(AGXT):c.848del	AGXT	Deletion (splice acceptor variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 2671873	NM_000030.3(AGXT):c.693C>G (p.Tyr231Ter)	AGXT (Y231*)	Single nucleotide variant (nonsense)	Primary hyperoxaluria, type I	GPathogenic
Select item 2671872	NM_000030.3(AGXT):c.658A>T (p.Ile220Phe)	AGXT (I220F)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GPathogenic
Select item 2671871	NM_000030.3(AGXT):c.598A>G (p.Ile200Val)	AGXT (I200V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2671870	NM_000030.3(AGXT):c.506T>C (p.Phe169Ser)	AGXT (F169S)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GUncertain significance
Select item 2671869	NM_000030.3(AGXT):c.469G>T (p.Glu157Ter)	AGXT (E157*)	Single nucleotide variant (nonsense)	Primary hyperoxaluria, type I	GPathogenic
Select item 2671868	NM_000030.3(AGXT):c.349dup (p.Glu117fs)	AGXT (E117fs)	Duplication (frameshift variant)	Primary hyperoxaluria, type I	GPathogenic
Select item 2671867	NM_000030.3(AGXT):c.278_279insCACACTT (p.Leu94fs)	AGXT (L94fs)	Insertion (frameshift variant)	Primary hyperoxaluria, type I	GPathogenic
Select item 2671861	NM_000030.3(AGXT):c.1120G>C (p.Asp374His)	AGXT (D374H)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GPathogenic
Select item 2671860	NM_000030.3(AGXT):c.1093_1094del (p.Gly365fs)	AGXT (G365fs)	Deletion (frameshift variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 2671859	NM_000030.3(AGXT):c.994_995del (p.Trp332fs)	AGXT (W332fs)	Deletion (frameshift variant)	Primary hyperoxaluria, type I	GPathogenic
Select item 2671858	NM_000030.3(AGXT):c.731T>A (p.Ile244Asn)	AGXT (I244N)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GPathogenic
Select item 2671857	NM_000030.3(AGXT):c.716_718del (p.Ser239del)	AGXT (S239del)	Deletion (inframe_deletion)	Primary hyperoxaluria, type I	GPathogenic
Select item 2671856	NM_000030.3(AGXT):c.79G>T (p.Gly27Trp)	AGXT (G27W)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 2664135	NM_000030.3(AGXT):c.815T>C (p.Leu272Pro)	AGXT (L272P)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GUncertain significance
Select item 2664134	NM_000030.3(AGXT):c.809A>G (p.Tyr270Cys)	AGXT (Y270C)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GUncertain significance
Select item 2664132	NM_000030.3(AGXT):c.779A>G (p.Tyr260Cys)	AGXT (Y260C)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 2664131	NM_000030.3(AGXT):c.774G>T (p.Arg258Ser)	AGXT (R258S)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GUncertain significance
Select item 2664130	NM_000030.3(AGXT):c.766del (p.Gln256fs)	AGXT (Q256fs)	Deletion (frameshift variant)	Primary hyperoxaluria, type I	GPathogenic
Select item 2664129	NM_000030.3(AGXT):c.710C>T (p.Pro237Leu)	AGXT (P237L)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GUncertain significance
Select item 2664128	NM_000030.3(AGXT):c.638C>A (p.Ala213Asp)	AGXT (A213D)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 2664127	NM_000030.3(AGXT):c.595+1G>T	AGXT	Single nucleotide variant (splice donor variant)	Primary hyperoxaluria, type I	GPathogenic
Select item 2664126	NM_000030.3(AGXT):c.560_561insGGT (p.Ser187_Leu188insVal)	AGXT	Insertion (inframe_insertion)	Primary hyperoxaluria, type I	GPathogenic
Select item 2664125	NM_000030.3(AGXT):c.560C>A (p.Ser187Tyr)	AGXT (S187Y)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 2664124	NM_000030.3(AGXT):c.469del (p.Glu157fs)	AGXT (E157fs)	Deletion (frameshift variant)	Primary hyperoxaluria, type I	GPathogenic
Select item 2664123	NM_000030.3(AGXT):c.402C>G (p.Tyr134Ter)	AGXT (Y134*)	Single nucleotide variant (nonsense)	Primary hyperoxaluria, type I	GPathogenic
Select item 2664122	NM_000030.3(AGXT):c.353G>C (p.Arg118Pro)	AGXT (R118P)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GUncertain significance
Select item 2664121	NM_000030.3(AGXT):c.352C>A (p.Arg118Ser)	AGXT (R118S)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 2664120	NM_000030.3(AGXT):c.292G>C (p.Asp98His)	AGXT (D98H)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 2664118	NM_000030.3(AGXT):c.191T>A (p.Ile64Asn)	AGXT (I64N)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 2664117	NM_000030.3(AGXT):c.190A>T (p.Ile64Phe)	AGXT (I64F)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I +1 more	GConflicting classifications of pathogenicity
Select item 2664115	NM_000030.3(AGXT):c.166-11_166-8delinsTGCATGCAAGAT	AGXT	Indel (intron variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 2664114	NM_000030.3(AGXT):c.166-1_172dup	AGXT	Duplication (splice acceptor variant)	Primary hyperoxaluria, type I	GPathogenic
Select item 2664113	NM_000030.3(AGXT):c.34_35dup (p.Ala13fs)	AGXT (A13fs)	Duplication (frameshift variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 2664112	NM_000030.2:c.1_524del	AGXT	Deletion	Primary hyperoxaluria, type I	GPathogenic
Select item 2664111	NM_000030.2(AGXT):c.1072_1079del	AGXT	Deletion	Primary hyperoxaluria, type I	GPathogenic
Select item 2664110	NM_000030.3(AGXT):c.224del (p.Thr75fs)	AGXT (T75fs)	Deletion (frameshift variant)	Primary hyperoxaluria, type I	GPathogenic
Select item 2584994	NM_000030.3(AGXT):c.386_395del (p.Asp129fs)	AGXT (D129fs)	Deletion (frameshift variant)	Primary hyperoxaluria, type I	GLikely pathogenic

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