ClinVar for MedGen (Select 120616) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24457021.	NM_012203.2(GRHPR):c.603dup (p.Thr202fs) GRCh37: Chr9:37430511-37430512 GRCh38: Chr9:37430514-37430515	GRHPR	T202fs	Primary hyperoxaluria, type II	Likely pathogenic (Feb 28, 2023)	criteria provided, single submitter
Select item 18059042.	NM_012203.2(GRHPR):c.170G>A (p.Cys57Tyr) GRCh37: Chr9:37424928 GRCh38: Chr9:37424931	GRHPR	C57Y	Primary hyperoxaluria, type II	Likely pathogenic (May 21, 2020)	criteria provided, single submitter
Select item 17266443.	NM_012203.2(GRHPR):c.532del (p.Gln178fs) GRCh37: Chr9:37429766 GRCh38: Chr9:37429769	GRHPR	Q178fs	Primary hyperoxaluria, type II	Likely pathogenic (Dec 30, 2021)	criteria provided, single submitter
Select item 17263824.	NM_012203.2(GRHPR):c.496C>T (p.Gln166Ter) GRCh37: Chr9:37429731 GRCh38: Chr9:37429734	GRHPR	Q166*	Primary hyperoxaluria, type II	Likely pathogenic (Dec 16, 2021)	criteria provided, single submitter
Select item 17261325.	NM_012203.2(GRHPR):c.319dup (p.Leu107fs) GRCh37: Chr9:37426564-37426565 GRCh38: Chr9:37426567-37426568	GRHPR	L107fs	Primary hyperoxaluria, type II	Likely pathogenic (May 18, 2022)	criteria provided, single submitter
Select item 17253986.	NM_012203.2(GRHPR):c.338_351del (p.Glu113fs) GRCh37: Chr9:37426585-37426598 GRCh38: Chr9:37426588-37426601	GRHPR	E113fs	Primary hyperoxaluria, type II	Likely pathogenic (Mar 18, 2022)	criteria provided, single submitter
Select item 17253827.	NM_012203.2(GRHPR):c.499_500insAGAGT (p.Ala167fs) GRCh37: Chr9:37429734-37429735 GRCh38: Chr9:37429737-37429738	GRHPR	A167fs	Primary hyperoxaluria, type II	Likely pathogenic (Mar 17, 2022)	criteria provided, single submitter
Select item 17251948.	NM_012203.2(GRHPR):c.586del (p.Gln196fs) GRCh37: Chr9:37429820 GRCh38: Chr9:37429823	GRHPR	Q196fs	Primary hyperoxaluria, type II	Likely pathogenic (Mar 14, 2022)	criteria provided, single submitter
Select item 11851609.	NM_012203.2(GRHPR):c.404+291T>C GRCh37: Chr9:37426942 GRCh38: Chr9:37426945	GRHPR		not provided, Primary hyperoxaluria, type II	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118515910.	NM_012203.2(GRHPR):c.404+153T>C GRCh37: Chr9:37426804 GRCh38: Chr9:37426807	GRHPR		not provided, Primary hyperoxaluria, type II	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118515811.	NM_012203.2(GRHPR):c.-92C>T GRCh37: Chr9:37422656 GRCh38: Chr9:37422659	GRHPR		not provided, Primary hyperoxaluria, type II	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 117917312.	NM_012203.2(GRHPR):c.865+1G>T GRCh37: Chr9:37432136 GRCh38: Chr9:37432139	GRHPR		not provided, Primary hyperoxaluria, type II	Likely pathogenic (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 117025013.	NM_012203.2(GRHPR):c.636C>T (p.Ile212=) GRCh37: Chr9:37430545 GRCh38: Chr9:37430548	GRHPR		not provided	Benign (Oct 23, 2022)	criteria provided, single submitter
Select item 116840014.	NM_012203.2(GRHPR):c.387C>A (p.Ala129=) GRCh37: Chr9:37426634 GRCh38: Chr9:37426637	GRHPR		not provided	Benign (Sep 19, 2022)	criteria provided, single submitter
Select item 116752315.	NM_012203.2(GRHPR):c.234C>T (p.Ile78=) GRCh37: Chr9:37425938 GRCh38: Chr9:37425941	GRHPR		Primary hyperoxaluria, type II, not provided, Nephrolithiasis/nephrocalcinosis	Benign/Likely benign (Oct 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 115951316.	NM_012203.2(GRHPR):c.180C>T (p.Ser60=) GRCh37: Chr9:37424938 GRCh38: Chr9:37424941	GRHPR		Nephrolithiasis/nephrocalcinosis, not provided, Primary hyperoxaluria, type II	Likely benign (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 114914217.	NM_012203.2(GRHPR):c.381G>A (p.Pro127=) GRCh37: Chr9:37426628 GRCh38: Chr9:37426631	GRHPR		not provided	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 113968418.	NM_012203.2(GRHPR):c.390C>T (p.Ile130=) GRCh37: Chr9:37426637 GRCh38: Chr9:37426640	GRHPR		Primary hyperoxaluria, type II, not provided	Likely benign (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 113644719.	NM_012203.2(GRHPR):c.771C>T (p.Ala257=) GRCh37: Chr9:37432041 GRCh38: Chr9:37432044	GRHPR		not provided	Likely benign (Jun 14, 2019)	criteria provided, single submitter
Select item 113050120.	NM_012203.2(GRHPR):c.345A>T (p.Ala115=) GRCh37: Chr9:37426592 GRCh38: Chr9:37426595	GRHPR		not provided, Primary hyperoxaluria, type II	Likely benign (Oct 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 109321321.	NM_012203.2(GRHPR):c.846C>G (p.Leu282=) GRCh37: Chr9:37432116 GRCh38: Chr9:37432119	GRHPR		not provided	Likely benign (Sep 2, 2022)	criteria provided, single submitter
Select item 109104522.	NM_012203.2(GRHPR):c.844C>T (p.Leu282Phe) GRCh37: Chr9:37432114 GRCh38: Chr9:37432117	GRHPR	L282F	not provided	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 99167323.	NM_012203.2(GRHPR):c.874C>T (p.Pro292Ser) GRCh37: Chr9:37436666 GRCh38: Chr9:37436669	GRHPR	P292S	Primary hyperoxaluria, type II	Uncertain significance (Aug 14, 2020)	no assertion criteria provided
Select item 99167224.	NM_012203.2(GRHPR):c.578C>T (p.Ala193Val) GRCh37: Chr9:37429813 GRCh38: Chr9:37429816	GRHPR	A193V	not provided, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Jun 24, 2022)	criteria provided, conflicting interpretations
Select item 99167125.	NM_012203.2(GRHPR):c.252C>A (p.Gly84=) GRCh37: Chr9:37425956 GRCh38: Chr9:37425959	GRHPR		not provided	Likely benign (Aug 7, 2022)	criteria provided, single submitter
Select item 99167026.	NM_012203.2(GRHPR):c.108G>A (p.Ser36=) GRCh37: Chr9:37424866 GRCh38: Chr9:37424869	GRHPR		not provided, Nephrolithiasis/nephrocalcinosis, Primary hyperoxaluria, type II	Likely benign (Sep 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99166927.	NM_012203.2(GRHPR):c.34A>G (p.Thr12Ala) GRCh37: Chr9:37422781 GRCh38: Chr9:37422784	GRHPR	T12A	not provided, Primary hyperoxaluria, type II	Conflicting interpretations of pathogenicity (Oct 9, 2020)	no assertion criteria provided
Select item 99166828.	NM_012203.2(GRHPR):c.14G>A (p.Arg5Gln) GRCh37: Chr9:37422761 GRCh38: Chr9:37422764	GRHPR	R5Q	Primary hyperoxaluria, type II	Uncertain significance (Sep 4, 2020)	no assertion criteria provided
Select item 98435429.	NM_012203.2(GRHPR):c.457C>T (p.Gln153Ter) GRCh37: Chr9:37428533 GRCh38: Chr9:37428536	GRHPR	Q153*	Primary hyperoxaluria, type II	Likely pathogenic (Sep 26, 2019)	criteria provided, single submitter
Select item 98435330.	NM_012203.2(GRHPR):c.306C>A (p.Tyr102Ter) GRCh37: Chr9:37426553 GRCh38: Chr9:37426556	GRHPR	Y102*	Primary hyperoxaluria, type II	Likely pathogenic (Sep 13, 2019)	criteria provided, single submitter
Select item 98435231.	NM_012203.2(GRHPR):c.136G>T (p.Glu46Ter) GRCh37: Chr9:37424894 GRCh38: Chr9:37424897	GRHPR	E46*	Primary hyperoxaluria, type II	Likely pathogenic (Dec 22, 2019)	criteria provided, single submitter
Select item 97163732.	NM_012203.2(GRHPR):c.511C>T (p.Arg171Cys) GRCh37: Chr9:37429746 GRCh38: Chr9:37429749	GRHPR	R171C	not provided, Primary hyperoxaluria, type II	Uncertain significance (May 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 96906033.	NM_012203.2(GRHPR):c.742G>A (p.Val248Ile) GRCh37: Chr9:37432012 GRCh38: Chr9:37432015	GRHPR	V248I	not provided, Primary hyperoxaluria, type II	Uncertain significance (Dec 8, 2021)	criteria provided, multiple submitters, no conflicts
Select item 96844534.	NM_012203.2(GRHPR):c.391G>A (p.Glu131Lys) GRCh37: Chr9:37426638 GRCh38: Chr9:37426641	GRHPR	E131K	not provided	Conflicting interpretations of pathogenicity (Oct 29, 2022)	criteria provided, conflicting interpretations
Select item 96174735.	NM_012203.2(GRHPR):c.215-13_215-7del GRCh37: Chr9:37425906-37425912 GRCh38: Chr9:37425909-37425915	GRHPR		not provided	Uncertain significance (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91525036.	NM_012203.2(GRHPR):c.543G>C (p.Leu181=) GRCh37: Chr9:37429778 GRCh38: Chr9:37429781	GRHPR		not provided, Primary hyperoxaluria, type II	Conflicting interpretations of pathogenicity (Sep 27, 2020)	criteria provided, conflicting interpretations
Select item 91524937.	NM_012203.2(GRHPR):c.487C>T (p.Arg163Cys) GRCh37: Chr9:37428563 GRCh38: Chr9:37428566	GRHPR	R163C	Primary hyperoxaluria, type II	Uncertain significance (Jul 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 91524838.	NM_012203.2(GRHPR):c.374G>A (p.Arg125Gln) GRCh37: Chr9:37426621 GRCh38: Chr9:37426624	GRHPR	R125Q	not provided, Primary hyperoxaluria, type II	Uncertain significance (Jun 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91405739.	NM_012203.2(GRHPR):c.*132T>C GRCh37: Chr9:37436911 GRCh38: Chr9:37436914	GRHPR		Primary hyperoxaluria, type II	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91401540.	NM_012203.2(GRHPR):c.296G>A (p.Arg99Gln) GRCh37: Chr9:37426543 GRCh38: Chr9:37426546	GRHPR	R99Q	Inborn genetic diseases, Primary hyperoxaluria, type II, not provided	Uncertain significance (Dec 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91401441.	NM_012203.2(GRHPR):c.265G>C (p.Ala89Pro) GRCh37: Chr9:37425969 GRCh38: Chr9:37425972	GRHPR	A89P	Primary hyperoxaluria, type II	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91401342.	NM_012203.2(GRHPR):c.156C>G (p.Ala52=) GRCh37: Chr9:37424914 GRCh38: Chr9:37424917	GRHPR		Primary hyperoxaluria, type II	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91366243.	NM_012203.2(GRHPR):c.759C>G (p.Asp253Glu) GRCh37: Chr9:37432029 GRCh38: Chr9:37432032	GRHPR	D253E	Primary hyperoxaluria, type II	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91366144.	NM_012203.2(GRHPR):c.701T>C (p.Met234Thr) GRCh37: Chr9:37430610 GRCh38: Chr9:37430613	GRHPR	M234T	Primary hyperoxaluria, type II, not provided	Uncertain significance (Feb 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91366045.	NM_012203.2(GRHPR):c.690C>A (p.Phe230Leu) GRCh37: Chr9:37430599 GRCh38: Chr9:37430602	GRHPR	F230L	Primary hyperoxaluria, type II, Nephrolithiasis/nephrocalcinosis, not provided	Conflicting interpretations of pathogenicity (Oct 18, 2022)	criteria provided, conflicting interpretations
Select item 91361846.	NM_012203.2(GRHPR):c.149C>T (p.Ala50Val) GRCh37: Chr9:37424907 GRCh38: Chr9:37424910	GRHPR	A50V	Primary hyperoxaluria, type II, Nephrolithiasis/nephrocalcinosis, not provided	Uncertain significance (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91361747.	NM_012203.2(GRHPR):c.86G>A (p.Cys29Tyr) GRCh37: Chr9:37424844 GRCh38: Chr9:37424847	GRHPR	C29Y	Primary hyperoxaluria, type II	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91255848.	NM_012203.2(GRHPR):c.554G>A (p.Arg185His) GRCh37: Chr9:37429789 GRCh38: Chr9:37429792	GRHPR	R185H	Primary hyperoxaluria, type II	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 91255749.	NM_012203.2(GRHPR):c.551G>A (p.Gly184Glu) GRCh37: Chr9:37429786 GRCh38: Chr9:37429789	GRHPR	G184E	Primary hyperoxaluria, type II	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 82999150.	NM_012203.2(GRHPR):c.872T>C (p.Leu291Pro) GRCh37: Chr9:37436664 GRCh38: Chr9:37436667	GRHPR	L291P	Primary hyperoxaluria, type II	Uncertain significance (Jul 4, 2019)	no assertion criteria provided
Select item 79983851.	NM_012203.2(GRHPR):c.384G>A (p.Glu128=) GRCh37: Chr9:37426631 GRCh38: Chr9:37426634	GRHPR		not provided	Likely benign (Oct 27, 2022)	criteria provided, single submitter
Select item 79881352.	NM_012203.2(GRHPR):c.84-4G>A GRCh37: Chr9:37424838 GRCh38: Chr9:37424841	GRHPR		not provided	Likely benign (Oct 6, 2022)	criteria provided, single submitter
Select item 79657353.	NM_012203.2(GRHPR):c.342C>T (p.Leu114=) GRCh37: Chr9:37426589 GRCh38: Chr9:37426592	GRHPR		Nephrolithiasis/nephrocalcinosis, not provided, Primary hyperoxaluria, type II	Likely benign (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 78080154.	NM_012203.2(GRHPR):c.509G>A (p.Arg170Gln) GRCh37: Chr9:37429744 GRCh38: Chr9:37429747	GRHPR	R170Q	not provided, Primary hyperoxaluria, type II	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 76651655.	NM_012203.2(GRHPR):c.756C>T (p.Asp252=) GRCh37: Chr9:37432026 GRCh38: Chr9:37432029	GRHPR		not provided	Likely benign (Oct 21, 2022)	criteria provided, single submitter
Select item 76434256.	NM_012203.2(GRHPR):c.255C>T (p.Ile85=) GRCh37: Chr9:37425959 GRCh38: Chr9:37425962	GRHPR		not provided, Primary hyperoxaluria, type II	Conflicting interpretations of pathogenicity (Oct 25, 2022)	criteria provided, conflicting interpretations
Select item 76307257.	NM_012203.2(GRHPR):c.666C>T (p.Thr222=) GRCh37: Chr9:37430575 GRCh38: Chr9:37430578	GRHPR		not provided, Primary hyperoxaluria, type II	Conflicting interpretations of pathogenicity (Oct 27, 2022)	criteria provided, conflicting interpretations
Select item 76241858.	NM_012203.2(GRHPR):c.762G>A (p.Leu254=) GRCh37: Chr9:37432032 GRCh38: Chr9:37432035	GRHPR		not provided	Likely benign (Oct 14, 2022)	criteria provided, single submitter
Select item 73749159.	NM_012203.2(GRHPR):c.666C>G (p.Thr222=) GRCh37: Chr9:37430575 GRCh38: Chr9:37430578	GRHPR		not provided, Nephrolithiasis/nephrocalcinosis, Primary hyperoxaluria, type II	Conflicting interpretations of pathogenicity (Oct 27, 2022)	criteria provided, conflicting interpretations
Select item 73692360.	NM_012203.2(GRHPR):c.357A>G (p.Leu119=) GRCh37: Chr9:37426604 GRCh38: Chr9:37426607	GRHPR		not provided, Primary hyperoxaluria, type II	Benign/Likely benign (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 65017261.	NM_012203.2(GRHPR):c.734+1G>A GRCh37: Chr9:37430644 GRCh38: Chr9:37430647	GRHPR		Primary hyperoxaluria, type II, not provided	Likely pathogenic (Jun 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 64562262.	NM_012203.2(GRHPR):c.593_594del (p.Glu198fs) GRCh37: Chr9:37429826-37429827 GRCh38: Chr9:37429829-37429830	GRHPR	E198fs	not provided, Primary hyperoxaluria, type II	Pathogenic (Aug 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 63254163.	NM_012203.2(GRHPR):c.139C>T (p.Arg47Ter) GRCh37: Chr9:37424897 GRCh38: Chr9:37424900	GRHPR	R47*	Primary hyperoxaluria, type II, not provided	Conflicting interpretations of pathogenicity (Sep 23, 2022)	criteria provided, conflicting interpretations
Select item 59922464.	NM_012203.2(GRHPR):c.617_671del (p.Ala206fs) GRCh37: Chr9:37430524-37430578 GRCh38: Chr9:37430527-37430581	GRHPR	A206fs	not provided	Pathogenic (Feb 19, 2019)	criteria provided, single submitter
Select item 55861765.	NM_012203.2(GRHPR):c.865+2dup GRCh37: Chr9:37432136-37432137 GRCh38: Chr9:37432139-37432140	GRHPR		Primary hyperoxaluria, type II	Uncertain significance (Jun 3, 2018)	criteria provided, single submitter
Select item 55777766.	NM_012203.2(GRHPR):c.598+1del GRCh37: Chr9:37429833 GRCh38: Chr9:37429836	GRHPR		Primary hyperoxaluria, type II	Likely pathogenic (Apr 11, 2018)	criteria provided, single submitter
Select item 55754267.	NM_012203.2(GRHPR):c.867_870dup (p.Leu291fs) GRCh37: Chr9:37436657-37436658 GRCh38: Chr9:37436660-37436661	GRHPR	L291fs	Primary hyperoxaluria, type II	Uncertain significance (Mar 30, 2018)	criteria provided, single submitter
Select item 55722068.	NM_012203.2(GRHPR):c.958G>T (p.Glu320Ter) GRCh37: Chr9:37436750 GRCh38: Chr9:37436753	GRHPR	E320*	Primary hyperoxaluria, type II, not provided	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 55708369.	NM_012203.2(GRHPR):c.735-2del GRCh37: Chr9:37432003 GRCh38: Chr9:37432006	GRHPR		not provided, Primary hyperoxaluria, type II	Likely pathogenic (Dec 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 55699470.	NM_012203.2(GRHPR):c.1A>T (p.Met1Leu) GRCh37: Chr9:37422748 GRCh38: Chr9:37422751	GRHPR	M1L	Primary hyperoxaluria, type II	Likely pathogenic (Mar 6, 2018)	criteria provided, single submitter
Select item 55697671.	NM_012203.2(GRHPR):c.863del (p.Cys288fs) GRCh37: Chr9:37432133 GRCh38: Chr9:37432136	GRHPR	C288fs	Primary hyperoxaluria, type II	Likely pathogenic (Mar 1, 2018)	criteria provided, single submitter
Select item 55649372.	NM_012203.2(GRHPR):c.403_404+1del GRCh37: Chr9:37426646-37426648 GRCh38: Chr9:37426649-37426651	GRHPR		Primary hyperoxaluria, type II	Uncertain significance (Feb 2, 2018)	criteria provided, single submitter
Select item 55577573.	NM_012203.2(GRHPR):c.83+51G>A GRCh37: Chr9:37422881 GRCh38: Chr9:37422884	GRHPR		Primary hyperoxaluria, type II	Likely benign (Dec 21, 2017)	criteria provided, single submitter
Select item 55553974.	NM_012203.2(GRHPR):c.286_287+1del GRCh37: Chr9:37425989-37425991 GRCh38: Chr9:37425992-37425994	GRHPR		not specified, Primary hyperoxaluria, type II	Uncertain significance (Sep 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55549475.	NM_012203.2(GRHPR):c.83+51_83+52delinsA GRCh37: Chr9:37422881-37422882 GRCh38: Chr9:37422884-37422885	GRHPR		Primary hyperoxaluria, type II	Likely benign (Dec 9, 2017)	criteria provided, single submitter
Select item 55526676.	NM_012203.2(GRHPR):c.599-1G>C GRCh37: Chr9:37430507 GRCh38: Chr9:37430510	GRHPR		Primary hyperoxaluria, type II	Likely pathogenic (Nov 27, 2017)	criteria provided, single submitter
Select item 55405277.	NM_012203.2(GRHPR):c.405-1G>A GRCh37: Chr9:37428480 GRCh38: Chr9:37428483	GRHPR		Primary hyperoxaluria, type II	Likely pathogenic (Oct 6, 2017)	criteria provided, single submitter
Select item 55402578.	NM_012203.2(GRHPR):c.1A>G (p.Met1Val) GRCh37: Chr9:37422748 GRCh38: Chr9:37422751	GRHPR	M1V	Primary hyperoxaluria, type II	Pathogenic/Likely pathogenic (Jul 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 55382579.	NM_012203.2(GRHPR):c.935dup (p.Asn312fs) GRCh37: Chr9:37436725-37436726 GRCh38: Chr9:37436728-37436729	GRHPR	N312fs	Primary hyperoxaluria, type II	Uncertain significance (Sep 8, 2017)	criteria provided, single submitter
Select item 55365580.	NM_012203.2(GRHPR):c.849dup (p.Thr284fs) GRCh37: Chr9:37432118-37432119 GRCh38: Chr9:37432121-37432122	GRHPR	T284fs	Primary hyperoxaluria, type II	Likely pathogenic (Sep 5, 2017)	criteria provided, single submitter
Select item 55346981.	NM_012203.2(GRHPR):c.456_464del (p.Gln153_Thr155del) GRCh37: Chr9:37428529-37428537 GRCh38: Chr9:37428532-37428540	GRHPR		Primary hyperoxaluria, type II	Uncertain significance (Aug 25, 2017)	criteria provided, single submitter
Select item 55295482.	NM_012203.2(GRHPR):c.866-2A>G GRCh37: Chr9:37436656 GRCh38: Chr9:37436659	GRHPR		Primary hyperoxaluria, type II	Uncertain significance (Jul 31, 2017)	criteria provided, single submitter
Select item 55224583.	NM_012203.2(GRHPR):c.214+1G>C GRCh37: Chr9:37424973 GRCh38: Chr9:37424976	GRHPR		Primary hyperoxaluria, type II	Likely pathogenic (May 31, 2017)	criteria provided, single submitter
Select item 55167884.	NM_012203.2(GRHPR):c.954_955del (p.Glu320fs) GRCh37: Chr9:37436743-37436744 GRCh38: Chr9:37436746-37436747	GRHPR	E320fs	not provided, Primary hyperoxaluria, type II	Conflicting interpretations of pathogenicity (Mar 1, 2021)	criteria provided, conflicting interpretations
Select item 55140685.	NM_012203.2(GRHPR):c.2T>G (p.Met1Arg) GRCh37: Chr9:37422749 GRCh38: Chr9:37422752	GRHPR	M1R	Primary hyperoxaluria, type II	Likely pathogenic (Apr 6, 2017)	criteria provided, single submitter
Select item 55138686.	NM_012203.2(GRHPR):c.986A>G (p.Ter329Trp) GRCh37: Chr9:37436778 GRCh38: Chr9:37436781	GRHPR		Primary hyperoxaluria, type II	Uncertain significance (Apr 6, 2017)	criteria provided, single submitter
Select item 55133987.	NM_012203.2(GRHPR):c.214+1G>T GRCh37: Chr9:37424973 GRCh38: Chr9:37424976	GRHPR		not provided, Primary hyperoxaluria, type II	Likely pathogenic (Jun 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55131288.	NM_012203.2(GRHPR):c.781_782delinsTAC (p.Gly261fs) GRCh37: Chr9:37432051-37432052 GRCh38: Chr9:37432054-37432055	GRHPR	G261fs	Primary hyperoxaluria, type II, not provided	Pathogenic/Likely pathogenic (Nov 1, 2018)	criteria provided, multiple submitters, no conflicts
Select item 55121589.	NM_012203.2(GRHPR):c.215-2_215-1del GRCh37: Chr9:37425917-37425918 GRCh38: Chr9:37425920-37425921	GRHPR		Primary hyperoxaluria, type II	Likely pathogenic (Mar 24, 2017)	criteria provided, single submitter
Select item 55116790.	NM_012203.2(GRHPR):c.783dup (p.Lys262Ter) GRCh37: Chr9:37432052-37432053 GRCh38: Chr9:37432055-37432056	GRHPR	K262*	Primary hyperoxaluria, type II	Likely pathogenic (Mar 17, 2017)	criteria provided, single submitter
Select item 55115191.	NM_012203.2(GRHPR):c.889G>A (p.Ala297Thr) GRCh37: Chr9:37436681 GRCh38: Chr9:37436684	GRHPR	A297T	Primary hyperoxaluria, type II	Uncertain significance (Mar 17, 2017)	criteria provided, single submitter
Select item 55034592.	NM_012203.2(GRHPR):c.496del (p.Gln166fs) GRCh37: Chr9:37429730 GRCh38: Chr9:37429733	GRHPR	Q166fs	Primary hyperoxaluria, type II	Likely pathogenic (Jan 10, 2017)	criteria provided, single submitter
Select item 55012993.	NM_012203.2(GRHPR):c.964_965del (p.Met322fs) GRCh37: Chr9:37436756-37436757 GRCh38: Chr9:37436759-37436760	GRHPR	M322fs	Primary hyperoxaluria, type II	Uncertain significance (Dec 15, 2016)	criteria provided, single submitter
Select item 55012394.	NM_012203.2(GRHPR):c.188_189del (p.Val63fs) GRCh37: Chr9:37424945-37424946 GRCh38: Chr9:37424948-37424949	GRHPR	V63fs	Primary hyperoxaluria, type II	Likely pathogenic (Jan 5, 2017)	criteria provided, single submitter
Select item 55007095.	NM_012203.2(GRHPR):c.598+1G>T GRCh37: Chr9:37429834 GRCh38: Chr9:37429837	GRHPR		Primary hyperoxaluria, type II	Likely pathogenic (Dec 28, 2016)	criteria provided, single submitter
Select item 54867396.	NM_012203.2(GRHPR):c.404+5G>A GRCh37: Chr9:37426656 GRCh38: Chr9:37426659	GRHPR		Primary hyperoxaluria, type II, not provided	Likely pathogenic (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 42714097.	NM_012203.2(GRHPR):c.955G>T (p.Gly319Trp) GRCh37: Chr9:37436747 GRCh38: Chr9:37436750	GRHPR	G319W	Primary hyperoxaluria, type II, not provided	Conflicting interpretations of pathogenicity (Aug 22, 2022)	criteria provided, conflicting interpretations
Select item 37159898.	NM_012203.2(GRHPR):c.214+2T>G GRCh37: Chr9:37424974 GRCh38: Chr9:37424977	GRHPR		Primary hyperoxaluria, type II	Likely pathogenic (Jul 29, 2021)	criteria provided, multiple submitters, no conflicts
Select item 37153599.	NM_012203.2(GRHPR):c.337G>T (p.Glu113Ter) GRCh37: Chr9:37426584 GRCh38: Chr9:37426587	GRHPR	E113*	not provided, Primary hyperoxaluria, type II	Pathogenic/Likely pathogenic (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 371518100.	NM_012203.2(GRHPR):c.435_436del (p.Trp145fs) GRCh37: Chr9:37428511-37428512 GRCh38: Chr9:37428514-37428515	GRHPR	W145fs	Primary hyperoxaluria, type II	Likely pathogenic (Oct 10, 2016)	criteria provided, single submitter

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