ClinVar for MedGen (Select 75658) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 18798391.	NM_000030.3(AGXT):c.596-1G>A GRCh37: Chr2:241813394 GRCh38: Chr2:240873977	AGXT		Primary hyperoxaluria, type I	Pathogenic	criteria provided, single submitter
Select item 17267762.	NM_000030.3(AGXT):c.934A>T (p.Lys312Ter) GRCh37: Chr2:241817041 GRCh38: Chr2:240877624	AGXT	K190, K312	Primary hyperoxaluria, type I	Likely pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 17262913.	NM_000030.3(AGXT):c.259del (p.Glu87fs) GRCh37: Chr2:241808679 GRCh38: Chr2:240869262	AGXT	E87fs	Primary hyperoxaluria, type I	Likely pathogenic (Dec 12, 2021)	criteria provided, single submitter
Select item 17256824.	NM_000030.3(AGXT):c.706A>T (p.Lys236Ter) GRCh37: Chr2:241814551 GRCh38: Chr2:240875134	AGXT	K236*	Primary hyperoxaluria, type I	Likely pathogenic (Mar 31, 2022)	criteria provided, single submitter
Select item 17256015.	NM_000030.3(AGXT):c.279del (p.Leu94fs) GRCh37: Chr2:241808700 GRCh38: Chr2:240869283	AGXT	L94fs	Primary hyperoxaluria, type I	Likely pathogenic (Mar 30, 2022)	criteria provided, single submitter
Select item 17255036.	NM_000030.3(AGXT):c.239_251del (p.Gly80fs) GRCh37: Chr2:241808657-241808669 GRCh38: Chr2:240869240-240869252	AGXT	G80fs	Primary hyperoxaluria, type I	Likely pathogenic (Mar 29, 2022)	criteria provided, single submitter
Select item 17251887.	NM_000030.3(AGXT):c.536delinsACTGGAGG (p.Leu179fs) GRCh37: Chr2:241812407 GRCh38: Chr2:240872990	AGXT	L179fs	Primary hyperoxaluria, type I	Likely pathogenic (Mar 14, 2022)	criteria provided, single submitter
Select item 17251198.	NM_000030.3(AGXT):c.528C>A (p.Tyr176Ter) GRCh37: Chr2:241812399 GRCh38: Chr2:240872982	AGXT	Y176*	Primary hyperoxaluria, type I	Likely pathogenic (Mar 8, 2022)	criteria provided, single submitter
Select item 17250269.	NM_000030.3(AGXT):c.579_580del (p.Tyr194fs) GRCh37: Chr2:241812449-241812450 GRCh38: Chr2:240873032-240873033	AGXT	Y194fs	Primary hyperoxaluria, type I	Likely pathogenic (Mar 5, 2022)	criteria provided, single submitter
Select item 167865010.	NM_000030.3(AGXT):c.31_32insT (p.Pro11fs) GRCh37: Chr2:241808313-241808314 GRCh38: Chr2:240868896-240868897	AGXT	P11fs	Primary hyperoxaluria, type I	Likely pathogenic (Mar 25, 2022)	criteria provided, single submitter
Select item 165569711.	NM_000030.3(AGXT):c.423+12G>A GRCh37: Chr2:241810137 GRCh38: Chr2:240870720	AGXT		not provided, Primary hyperoxaluria, type I	Likely benign (May 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 160462812.	NM_000030.3(AGXT):c.483C>G (p.Gly161=) GRCh37: Chr2:241810825 GRCh38: Chr2:240871408	AGXT		not provided, Primary hyperoxaluria, type I	Likely benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144857813.	NM_000030.3(AGXT):c.1065G>A (p.Thr355=) GRCh37: Chr2:241817561 GRCh38: Chr2:240878144	AGXT		not provided, Primary hyperoxaluria, type I	Conflicting interpretations of pathogenicity (Sep 27, 2022)	criteria provided, conflicting interpretations
Select item 135454514.	NM_000030.3(AGXT):c.1002C>T (p.Asp334=) GRCh37: Chr2:241817498 GRCh38: Chr2:240878081	AGXT		not provided, Primary hyperoxaluria, type I	Likely benign (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133029415.	NM_000030.3(AGXT):c.642del (p.Pro215fs) GRCh37: Chr2:241813441 GRCh38: Chr2:240874024	AGXT	P215fs	Primary hyperoxaluria, type I	Pathogenic (Aug 19, 2021)	criteria provided, single submitter
Select item 132386816.	NM_000030.3(AGXT):c.838del (p.Ala280fs) GRCh37: Chr2:241815413 GRCh38: Chr2:240875996	AGXT	A280fs	Primary hyperoxaluria, type I	Likely pathogenic (Oct 11, 2021)	criteria provided, single submitter
Select item 132386617.	NM_000030.3(AGXT):c.305T>A (p.Val102Asp) GRCh37: Chr2:241808726 GRCh38: Chr2:240869309	AGXT	V102D	Primary hyperoxaluria, type I	Likely pathogenic (Oct 12, 2021)	criteria provided, single submitter
Select item 118476118.	NM_000030.3(AGXT):c.942+127C>T GRCh37: Chr2:241817176 GRCh38: Chr2:240877759	AGXT		not provided, Primary hyperoxaluria, type I	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118476019.	NM_000030.3(AGXT):c.847-83G>T GRCh37: Chr2:241816871 GRCh38: Chr2:240877454	AGXT		not provided, Primary hyperoxaluria, type I	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118475920.	NM_000030.3(AGXT):c.846+199G>A GRCh37: Chr2:241815620 GRCh38: Chr2:240876203	AGXT		not provided, Primary hyperoxaluria, type I	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118475821.	NM_000030.3(AGXT):c.846+170C>T GRCh37: Chr2:241815591 GRCh38: Chr2:240876174	AGXT		not provided, Primary hyperoxaluria, type I	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118475722.	NM_000030.3(AGXT):c.595+100G>A GRCh37: Chr2:241812566 GRCh38: Chr2:240873149	AGXT		Primary hyperoxaluria, type I, not provided	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118475623.	NM_000030.3(AGXT):c.358+163G>T GRCh37: Chr2:241808942 GRCh38: Chr2:240869525	AGXT		Primary hyperoxaluria, type I, not provided	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 115627224.	NM_000030.3(AGXT):c.660C>T (p.Ile220=) GRCh37: Chr2:241813459 GRCh38: Chr2:240874042	AGXT		Primary hyperoxaluria, type I, not provided	Likely benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 115375425.	NM_000030.3(AGXT):c.450G>A (p.Leu150=) GRCh37: Chr2:241810792 GRCh38: Chr2:240871375	AGXT		not provided	Likely benign (Feb 21, 2022)	criteria provided, single submitter
Select item 114129226.	NM_000030.3(AGXT):c.27C>G (p.Thr9=) GRCh37: Chr2:241808309 GRCh38: Chr2:240868892	AGXT		not provided, Primary hyperoxaluria, type I	Likely benign (Sep 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 111343727.	NM_000030.3(AGXT):c.1170G>A (p.Lys390=) GRCh37: Chr2:241818229 GRCh38: Chr2:240878812	AGXT		not provided	Likely benign (Oct 30, 2022)	criteria provided, single submitter
Select item 109309028.	NM_000030.3(AGXT):c.596-10C>T GRCh37: Chr2:241813385 GRCh38: Chr2:240873968	AGXT		not provided, Primary hyperoxaluria, type I	Likely benign (Jan 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 108315429.	NM_000030.3(AGXT):c.596-7T>C GRCh37: Chr2:241813388 GRCh38: Chr2:240873971	AGXT		Primary hyperoxaluria, type I, not provided	Likely benign (Oct 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 108025830.	NM_000030.3(AGXT):c.981C>T (p.Pro327=) GRCh37: Chr2:241817477 GRCh38: Chr2:240878060	AGXT		not provided, Primary hyperoxaluria, type I	Likely benign (May 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106031731.	NM_000030.3(AGXT):c.637G>A (p.Ala213Thr) GRCh37: Chr2:241813436 GRCh38: Chr2:240874019	AGXT	A213T	not provided, Primary hyperoxaluria, type I	Uncertain significance (Jan 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99064332.	NM_000030.3(AGXT):c.882C>T (p.Ala294=) GRCh37: Chr2:241816989 GRCh38: Chr2:240877572	AGXT		not provided	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 99064233.	NM_000030.3(AGXT):c.846+5A>G GRCh37: Chr2:241815426 GRCh38: Chr2:240876009	AGXT		Primary hyperoxaluria, type I	Uncertain significance (Feb 23, 2022)	criteria provided, single submitter
Select item 99064134.	NM_000030.3(AGXT):c.551C>T (p.Ser184Leu) GRCh37: Chr2:241812422 GRCh38: Chr2:240873005	AGXT	S184L	Primary hyperoxaluria, type I	Uncertain significance (Jan 8, 2022)	criteria provided, single submitter
Select item 99064035.	NM_000030.3(AGXT):c.341A>G (p.Asp114Gly) GRCh37: Chr2:241808762 GRCh38: Chr2:240869345	AGXT	D114G	Primary hyperoxaluria, type I	Uncertain significance (Aug 14, 2020)	no assertion criteria provided
Select item 98373136.	NM_000030.3(AGXT):c.653C>A (p.Ser218Ter) GRCh37: Chr2:241813452 GRCh38: Chr2:240874035	AGXT	S218*	Primary hyperoxaluria, type I	Likely pathogenic (Feb 2, 2020)	criteria provided, single submitter
Select item 98373037.	NM_000030.3(AGXT):c.439A>T (p.Lys147Ter) GRCh37: Chr2:241810781 GRCh38: Chr2:240871364	AGXT	K147*	Primary hyperoxaluria, type I	Likely pathogenic (Dec 22, 2019)	criteria provided, single submitter
Select item 98372938.	NM_000030.3(AGXT):c.412G>T (p.Glu138Ter) GRCh37: Chr2:241810114 GRCh38: Chr2:240870697	AGXT	E138*	Primary hyperoxaluria, type I	Likely pathogenic (Oct 18, 2019)	criteria provided, single submitter
Select item 98372839.	NM_000030.3(AGXT):c.358G>T (p.Gly120Ter) GRCh37: Chr2:241808779 GRCh38: Chr2:240869362	AGXT	G120*	Primary hyperoxaluria, type I	Likely pathogenic (Dec 16, 2019)	criteria provided, single submitter
Select item 98372740.	NM_000030.3(AGXT):c.252T>A (p.Cys84Ter) GRCh37: Chr2:241808673 GRCh38: Chr2:240869256	AGXT	C84*	Primary hyperoxaluria, type I	Likely pathogenic (May 31, 2019)	criteria provided, single submitter
Select item 98372641.	NM_000030.3(AGXT):c.198C>A (p.Tyr66Ter) GRCh37: Chr2:241808619 GRCh38: Chr2:240869202	AGXT	Y66*	Primary hyperoxaluria, type I	Pathogenic/Likely pathogenic (Nov 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 97319242.	NM_000030.3(AGXT):c.534C>G (p.Cys178Trp) GRCh37: Chr2:241812405 GRCh38: Chr2:240872988	AGXT	C178W	Primary hyperoxaluria, type I	Likely pathogenic (Jul 2, 2020)	criteria provided, single submitter
Select item 97151343.	NM_000030.3(AGXT):c.374_381del (p.Pro125fs) GRCh37: Chr2:241810073-241810080 GRCh38: Chr2:240870656-240870663	AGXT	P125fs	Primary hyperoxaluria, type I, not provided	Pathogenic/Likely pathogenic (Dec 8, 2021)	criteria provided, multiple submitters, no conflicts
Select item 96218744.	NM_000030.3(AGXT):c.286C>G (p.Pro96Ala) GRCh37: Chr2:241808707 GRCh38: Chr2:240869290	AGXT	P96A	not provided, Primary hyperoxaluria, type I	Uncertain significance (Mar 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 96169145.	NM_000030.3(AGXT):c.358G>A (p.Gly120Arg) GRCh37: Chr2:241808779 GRCh38: Chr2:240869362	AGXT	G120R	not provided, Primary hyperoxaluria, type I	Uncertain significance (Mar 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 95771346.	NM_000030.3(AGXT):c.70C>A (p.Leu24Ile) GRCh37: Chr2:241808352 GRCh38: Chr2:240868935	AGXT	L24I	Primary hyperoxaluria, type I, not provided	Uncertain significance (Nov 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 95189347.	NM_000030.3(AGXT):c.973del (p.Ala325fs) GRCh37: Chr2:241817468 GRCh38: Chr2:240878051	AGXT	A325fs	not provided, Primary hyperoxaluria, type I	Pathogenic/Likely pathogenic (Aug 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 95075748.	NM_000030.3(AGXT):c.172G>A (p.Asp58Asn) GRCh37: Chr2:241808593 GRCh38: Chr2:240869176	AGXT	D58N	not provided	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 89932349.	NM_000030.3(AGXT):c.510G>A (p.Gly170=) GRCh37: Chr2:241810852 GRCh38: Chr2:240871435	AGXT		Primary hyperoxaluria, type I, not provided	Conflicting interpretations of pathogenicity (Sep 25, 2022)	criteria provided, conflicting interpretations
Select item 89828750.	NM_000030.3(AGXT):c.*285G>A GRCh37: Chr2:241818523 GRCh38: Chr2:240879106	AGXT		Primary hyperoxaluria, type I	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89828651.	NM_000030.3(AGXT):c.*194A>T GRCh37: Chr2:241818432 GRCh38: Chr2:240879015	AGXT		Primary hyperoxaluria, type I	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89828552.	NM_000030.3(AGXT):c.*52C>G GRCh37: Chr2:241818290 GRCh38: Chr2:240878873	AGXT		Primary hyperoxaluria, type I	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89821853.	NM_000030.3(AGXT):c.491A>T (p.Gln164Leu) GRCh37: Chr2:241810833 GRCh38: Chr2:240871416	AGXT	Q164L	Primary hyperoxaluria, type I	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89821754.	NM_000030.3(AGXT):c.214A>C (p.Asn72His) GRCh37: Chr2:241808635 GRCh38: Chr2:240869218	AGXT	N72H	not provided, Primary hyperoxaluria, type I	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 89821655.	NM_000030.3(AGXT):c.174C>A (p.Asp58Glu) GRCh37: Chr2:241808595 GRCh38: Chr2:240869178	AGXT	D58E	Primary hyperoxaluria, type I	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 89712456.	NM_000030.3(AGXT):c.1065G>C (p.Thr355=) GRCh37: Chr2:241817561 GRCh38: Chr2:240878144	AGXT		not provided, Primary hyperoxaluria, type I	Conflicting interpretations of pathogenicity (Oct 10, 2022)	criteria provided, conflicting interpretations
Select item 89712357.	NM_000030.3(AGXT):c.1046G>A (p.Gly349Asp) GRCh37: Chr2:241817542 GRCh38: Chr2:240878125	AGXT	G349D	Primary hyperoxaluria, type I	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89666458.	NM_000030.3(AGXT):c.1019T>C (p.Ile340Thr) GRCh37: Chr2:241817515 GRCh38: Chr2:240878098	AGXT	I340T	Primary hyperoxaluria, type I	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89666359.	NM_000030.3(AGXT):c.950G>A (p.Arg317Gln) GRCh37: Chr2:241817446 GRCh38: Chr2:240878029	AGXT	R317Q	Primary hyperoxaluria, type I	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89666260.	NM_000030.3(AGXT):c.942+12C>G GRCh37: Chr2:241817061 GRCh38: Chr2:240877644	AGXT		not provided, Primary hyperoxaluria, type I	Benign/Likely benign (Jul 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89659261.	NM_000030.3(AGXT):c.40C>T (p.Leu14=) GRCh37: Chr2:241808322 GRCh38: Chr2:240868905	AGXT		not provided, Primary hyperoxaluria, type I	Conflicting interpretations of pathogenicity (Apr 21, 2022)	criteria provided, conflicting interpretations
Select item 89659162.	NM_000030.3(AGXT):c.31C>G (p.Pro11Ala) GRCh37: Chr2:241808313 GRCh38: Chr2:240868896	AGXT	P11A	Primary hyperoxaluria, type I	Uncertain significance (Apr 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89517163.	NM_000030.3(AGXT):c.-24C>G GRCh37: Chr2:241808259 GRCh38: Chr2:240868842	AGXT		Primary hyperoxaluria, type I	Likely benign (Apr 27, 2017)	criteria provided, single submitter
Select item 85326264.	NM_000030.3(AGXT):c.942G>A (p.Pro314=) GRCh37: Chr2:241817049 GRCh38: Chr2:240877632	AGXT		not provided	Uncertain significance (May 28, 2022)	criteria provided, single submitter
Select item 80192165.	NM_000030.3(AGXT):c.683AGA[1] (p.Lys229del) GRCh37: Chr2:241814527-241814529 GRCh38: Chr2:240875110-240875112	AGXT	K229del	Primary hyperoxaluria, type I	Likely pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 79778066.	NM_000030.3(AGXT):c.375G>C (p.Pro125=) GRCh37: Chr2:241810077 GRCh38: Chr2:240870660	AGXT		Primary hyperoxaluria, type I, not provided	Likely benign (Jun 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 78884867.	NM_000030.3(AGXT):c.762C>T (p.Asp254=) GRCh37: Chr2:241814607 GRCh38: Chr2:240875190	AGXT		not provided	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 76787768.	NM_000030.3(AGXT):c.840G>A (p.Ala280=) GRCh37: Chr2:241815415 GRCh38: Chr2:240875998	AGXT		not provided	Likely benign (Oct 8, 2022)	criteria provided, single submitter
Select item 76375569.	NM_000030.3(AGXT):c.888G>A (p.Ala296=) GRCh37: Chr2:241816995 GRCh38: Chr2:240877578	AGXT		not provided, Primary hyperoxaluria, type I	Likely benign (Aug 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 75065970.	NM_000030.3(AGXT):c.885G>A (p.Ala295=) GRCh37: Chr2:241816992 GRCh38: Chr2:240877575	AGXT		Primary hyperoxaluria, type I, not provided	Conflicting interpretations of pathogenicity (Oct 7, 2022)	criteria provided, conflicting interpretations
Select item 75011771.	NM_000030.3(AGXT):c.537G>C (p.Leu179=) GRCh37: Chr2:241812408 GRCh38: Chr2:240872991	AGXT		not provided, Primary hyperoxaluria, type I	Conflicting interpretations of pathogenicity (Nov 4, 2022)	criteria provided, conflicting interpretations
Select item 73326972.	NM_000030.3(AGXT):c.876C>A (p.Arg292=) GRCh37: Chr2:241816983 GRCh38: Chr2:240877566	AGXT		not provided	Likely benign (Oct 1, 2022)	criteria provided, single submitter
Select item 72995073.	NM_000030.3(AGXT):c.805C>T (p.Leu269=) GRCh37: Chr2:241815380 GRCh38: Chr2:240875963	AGXT		not provided	Benign (Oct 20, 2022)	criteria provided, single submitter
Select item 72538774.	NM_000030.3(AGXT):c.567C>T (p.Gly189=) GRCh37: Chr2:241812438 GRCh38: Chr2:240873021	AGXT		not provided, Primary hyperoxaluria, type I	Conflicting interpretations of pathogenicity (Oct 6, 2022)	criteria provided, conflicting interpretations
Select item 72166975.	NM_000030.3(AGXT):c.795C>T (p.Pro265=) GRCh37: Chr2:241815370 GRCh38: Chr2:240875953	AGXT		not provided	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 71969376.	NM_000030.3(AGXT):c.573C>T (p.Thr191=) GRCh37: Chr2:241812444 GRCh38: Chr2:240873027	AGXT		not provided, Primary hyperoxaluria, type I	Benign/Likely benign (Oct 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 71154677.	NM_000030.3(AGXT):c.1023C>A (p.Asp341Glu) GRCh37: Chr2:241817519 GRCh38: Chr2:240878102	AGXT	D341E	Primary hyperoxaluria, type I, not provided	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 71154578.	NM_000030.3(AGXT):c.424-4T>C GRCh37: Chr2:241810762 GRCh38: Chr2:240871345	AGXT		Primary hyperoxaluria, type I, not provided	Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63185179.	NM_000030.3(AGXT):c.949C>T (p.Arg317Trp) GRCh37: Chr2:241817445 GRCh38: Chr2:240878028	AGXT	R317W	Primary hyperoxaluria, type I, not provided	Conflicting interpretations of pathogenicity (Jul 13, 2023)	criteria provided, conflicting interpretations
Select item 55852680.	NM_000030.3(AGXT):c.423+1G>A GRCh37: Chr2:241810126 GRCh38: Chr2:240870709	AGXT		Primary hyperoxaluria, type I	Likely pathogenic (May 25, 2018)	criteria provided, single submitter
Select item 55850981.	NM_000030.3(AGXT):c.847-2_847-1del GRCh37: Chr2:241816952-241816953 GRCh38: Chr2:240877535-240877536	AGXT		Primary hyperoxaluria, type I	Likely pathogenic (May 24, 2018)	criteria provided, single submitter
Select item 55728182.	NM_000030.3(AGXT):c.406_410dup (p.Gln137fs) GRCh37: Chr2:241810105-241810106 GRCh38: Chr2:240870688-240870689	AGXT	Q137fs	Primary hyperoxaluria, type I	Pathogenic (Mar 21, 2018)	criteria provided, single submitter
Select item 55678883.	NM_000030.3(AGXT):c.683AGA[3] (p.Lys229dup) GRCh37: Chr2:241814526-241814527 GRCh38: Chr2:240875109-240875110	AGXT		Primary hyperoxaluria, type I	Uncertain significance (Feb 20, 2018)	criteria provided, single submitter
Select item 55589584.	NM_000030.3(AGXT):c.781C>G (p.His261Asp) GRCh37: Chr2:241815356 GRCh38: Chr2:240875939	AGXT	H261D	not provided, Primary hyperoxaluria, type I	Conflicting interpretations of pathogenicity (Jun 15, 2022)	criteria provided, conflicting interpretations
Select item 55450685.	NM_000030.3(AGXT):c.82C>T (p.Pro28Ser) GRCh37: Chr2:241808364 GRCh38: Chr2:240868947	AGXT	P28S	Primary hyperoxaluria, type I	Uncertain significance (Feb 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55431486.	NM_000030.3(AGXT):c.126dup (p.Leu43fs) GRCh37: Chr2:241808402-241808403 GRCh38: Chr2:240868985-240868986	AGXT	L43fs	Primary hyperoxaluria, type I	Likely pathogenic (Oct 16, 2017)	criteria provided, single submitter
Select item 55334087.	NM_000030.3(AGXT):c.423G>C (p.Glu141Asp) GRCh37: Chr2:241810125 GRCh38: Chr2:240870708	AGXT	E141D	Primary hyperoxaluria, type I	Uncertain significance (Aug 16, 2017)	criteria provided, single submitter
Select item 55297988.	NM_000030.3(AGXT):c.466G>C (p.Gly156Arg) GRCh37: Chr2:241810808 GRCh38: Chr2:240871391	AGXT	G156R	not provided, Primary hyperoxaluria, type I	Pathogenic (Dec 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 55141189.	NM_000030.3(AGXT):c.*39G>A GRCh37: Chr2:241818277 GRCh38: Chr2:240878860	AGXT		Primary hyperoxaluria, type I	Uncertain significance (Apr 24, 2017)	criteria provided, single submitter
Select item 55138590.	NM_000030.3(AGXT):c.524+2T>A GRCh37: Chr2:241810868 GRCh38: Chr2:240871451	AGXT		Primary hyperoxaluria, type I	Likely pathogenic (Apr 6, 2017)	criteria provided, single submitter
Select item 55138391.	NM_000030.3(AGXT):c.260_271del (p.Glu87_Leu90del) GRCh37: Chr2:241808674-241808685 GRCh38: Chr2:240869257-240869268	AGXT		not provided, Primary hyperoxaluria, type I	Uncertain significance (May 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55129692.	NM_000030.3(AGXT):c.681-1G>T GRCh37: Chr2:241814525 GRCh38: Chr2:240875108	AGXT		Primary hyperoxaluria, type I	Likely pathogenic (Mar 29, 2017)	criteria provided, single submitter
Select item 55088593.	NM_000030.3(AGXT):c.776+2T>G GRCh37: Chr2:241814623 GRCh38: Chr2:240875206	AGXT		Primary hyperoxaluria, type I	Likely pathogenic (Feb 27, 2017)	criteria provided, single submitter
Select item 55040894.	NM_000030.3(AGXT):c.777-17C>A GRCh37: Chr2:241815335 GRCh38: Chr2:240875918	AGXT		not provided, Primary hyperoxaluria, type I	Likely benign (Sep 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55033495.	NM_000030.3(AGXT):c.145A>C (p.Met49Leu) GRCh37: Chr2:241808427 GRCh38: Chr2:240869010	AGXT	M49L	not provided, Primary hyperoxaluria, type I, not specified	Conflicting interpretations of pathogenicity (Oct 27, 2022)	criteria provided, conflicting interpretations
Select item 45144396.	NM_000030.3(AGXT):c.676G>A (p.Ala226Thr) GRCh37: Chr2:241813475 GRCh38: Chr2:240874058	AGXT	A226T	not provided	Uncertain significance (Aug 22, 2017)	criteria provided, single submitter
Select item 38336897.	NM_000030.3(AGXT):c.743C>T (p.Ala248Val) GRCh37: Chr2:241814588 GRCh38: Chr2:240875171	AGXT	A248V	not provided, Primary hyperoxaluria, type I, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Mar 29, 2023)	criteria provided, conflicting interpretations
Select item 38336798.	NM_000030.3(AGXT):c.28C>G (p.Pro10Ala) GRCh37: Chr2:241808310 GRCh38: Chr2:240868893	AGXT	P10A	not provided	Uncertain significance (Feb 13, 2016)	criteria provided, single submitter
Select item 37095899.	NM_000030.3(AGXT):c.673_676del (p.Lys225fs) GRCh37: Chr2:241813472-241813475 GRCh38: Chr2:240874055-240874058	AGXT	K225fs	Primary hyperoxaluria, type I, not provided	Pathogenic/Likely pathogenic (Apr 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 335304100.	NM_000030.3(AGXT):c.*162A>G GRCh37: Chr2:241818400 GRCh38: Chr2:240878983	AGXT		Primary hyperoxaluria, type I	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter

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