ClinVar for MedGen (Select 387801) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25007561.	NC_000002.12:g.43986415_44009956del GRCh38: Chr2:43986415-44009956	LRPPRC		Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Pathogenic (Jul 1, 2022)	criteria provided, single submitter
Select item 25007552.	NM_133259.4(LRPPRC):c.2882T>C (p.Leu961Pro) GRCh37: Chr2:44152220 GRCh38: Chr2:43925081	LRPPRC	L961P	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Likely pathogenic (Jul 1, 2022)	criteria provided, single submitter
Select item 24335323.	NM_133259.4(LRPPRC):c.1087G>A (p.Val363Ile) GRCh37: Chr2:44201357 GRCh38: Chr2:43974218	LRPPRC	V363I	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Uncertain significance (Nov 29, 2021)	criteria provided, single submitter
Select item 24335304.	NM_133259.4(LRPPRC):c.567G>C (p.Glu189Asp) GRCh37: Chr2:44204318 GRCh38: Chr2:43977179	LRPPRC	E189D	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Uncertain significance (May 12, 2021)	criteria provided, single submitter
Select item 24335295.	NM_133259.4(LRPPRC):c.2263G>A (p.Val755Ile) GRCh37: Chr2:44172504 GRCh38: Chr2:43945365	LRPPRC	V755I	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Uncertain significance (Dec 20, 2022)	criteria provided, single submitter
Select item 24335286.	NM_133259.4(LRPPRC):c.1649+3A>G GRCh37: Chr2:44184521 GRCh38: Chr2:43957382	LRPPRC		Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Uncertain significance (Dec 5, 2019)	criteria provided, single submitter
Select item 24335277.	NM_133259.4(LRPPRC):c.319A>G (p.Lys107Glu) GRCh37: Chr2:44209404 GRCh38: Chr2:43982265	LRPPRC	K107E	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 24335268.	NM_133259.4(LRPPRC):c.1456G>A (p.Asp486Asn) GRCh37: Chr2:44190759 GRCh38: Chr2:43963620	LRPPRC	D486N	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Uncertain significance (Aug 13, 2019)	criteria provided, single submitter
Select item 24335259.	NM_133259.4(LRPPRC):c.2557A>G (p.Lys853Glu) GRCh37: Chr2:44161965 GRCh38: Chr2:43934826	LRPPRC	K853E	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Uncertain significance (Jun 15, 2021)	criteria provided, single submitter
Select item 243352410.	NM_133259.4(LRPPRC):c.1216C>T (p.Pro406Ser) GRCh37: Chr2:44200979 GRCh38: Chr2:43973840	LRPPRC	P406S	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Uncertain significance (Mar 18, 2019)	criteria provided, single submitter
Select item 239968911.	NM_133259.4(LRPPRC):c.2753C>T (p.Ala918Val) GRCh37: Chr2:44153084 GRCh38: Chr2:43925945	LRPPRC	A918V	Inborn genetic diseases, Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Uncertain significance (Dec 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 172696712.	NM_133259.4(LRPPRC):c.1277T>A (p.Leu426Ter) GRCh37: Chr2:44200838 GRCh38: Chr2:43973699	LRPPRC	L426*	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Likely pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 172694313.	NM_133259.4(LRPPRC):c.3465_3466delinsA (p.Glu1156fs) GRCh37: Chr2:44128562-44128563 GRCh38: Chr2:43901423-43901424	LRPPRC	E1156fs	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Likely pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 172690114.	NM_133259.4(LRPPRC):c.2488_2489del (p.Thr830fs) GRCh37: Chr2:44170841-44170842 GRCh38: Chr2:43943702-43943703	LRPPRC	T830fs	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Likely pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 172682015.	NM_133259.4(LRPPRC):c.3697_3701delinsCAAG (p.Ala1233fs) GRCh37: Chr2:44126613-44126617 GRCh38: Chr2:43899474-43899478	LRPPRC	A1233fs	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Likely pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 172681916.	NM_133259.4(LRPPRC):c.883A>T (p.Lys295Ter) GRCh37: Chr2:44201879 GRCh38: Chr2:43974740	LRPPRC	K295*	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Likely pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 172680917.	NM_133259.4(LRPPRC):c.1493_1495delinsTTGT (p.Asn498fs) GRCh37: Chr2:44187767-44187769 GRCh38: Chr2:43960628-43960630	LRPPRC	N498fs	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Likely pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 172679618.	NM_133259.4(LRPPRC):c.406_407del (p.Glu136fs) GRCh37: Chr2:44207027-44207028 GRCh38: Chr2:43979888-43979889	LRPPRC	E136fs	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Likely pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 172676019.	NM_133259.4(LRPPRC):c.1378G>T (p.Glu460Ter) GRCh37: Chr2:44190837 GRCh38: Chr2:43963698	LRPPRC	E460*	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Likely pathogenic (Jan 25, 2022)	criteria provided, single submitter
Select item 172670520.	NM_133259.4(LRPPRC):c.508A>T (p.Lys170Ter) GRCh37: Chr2:44204377 GRCh38: Chr2:43977238	LRPPRC	K170*	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Likely pathogenic (Dec 30, 2021)	criteria provided, single submitter
Select item 172670121.	NM_133259.4(LRPPRC):c.509_510insGATGTGTATAAGAGAC (p.Val171fs) GRCh37: Chr2:44204375-44204376 GRCh38: Chr2:43977236-43977237	LRPPRC	V171fs	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Likely pathogenic (Dec 30, 2021)	criteria provided, single submitter
Select item 172669322.	NM_133259.4(LRPPRC):c.2406_2407del (p.Glu803fs) GRCh37: Chr2:44170923-44170924 GRCh38: Chr2:43943784-43943785	LRPPRC	E803fs	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Likely pathogenic (Dec 30, 2021)	criteria provided, single submitter
Select item 172662423.	NM_133259.4(LRPPRC):c.811del (p.Leu271fs) GRCh37: Chr2:44202283 GRCh38: Chr2:43975144	LRPPRC	L271fs	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Likely pathogenic (Dec 29, 2021)	criteria provided, single submitter
Select item 172661324.	NM_133259.4(LRPPRC):c.186_193delinsAAAA (p.Ala63fs) GRCh37: Chr2:44209530-44209537 GRCh38: Chr2:43982391-43982398	LRPPRC	A63fs	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Likely pathogenic (Dec 27, 2021)	criteria provided, single submitter
Select item 172648525.	NM_133259.4(LRPPRC):c.93_94delinsAGCA (p.Gly32fs) GRCh37: Chr2:44222993-44222994 GRCh38: Chr2:43995854-43995855	LRPPRC	G32fs	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Likely pathogenic (Dec 17, 2021)	criteria provided, single submitter
Select item 172647526.	NM_133259.4(LRPPRC):c.2246_2247insTATAAGAGACAGT (p.Lys750fs) GRCh37: Chr2:44172520-44172521 GRCh38: Chr2:43945381-43945382	LRPPRC	K750fs	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Likely pathogenic (Dec 17, 2021)	criteria provided, single submitter
Select item 172646527.	NM_133259.4(LRPPRC):c.54_57delinsTCG (p.Leu20fs) GRCh37: Chr2:44223030-44223033 GRCh38: Chr2:43995891-43995894	LRPPRC	L20fs	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Likely pathogenic (Dec 17, 2021)	criteria provided, single submitter
Select item 172641328.	NM_133259.4(LRPPRC):c.2086C>T (p.Gln696Ter) GRCh37: Chr2:44173376 GRCh38: Chr2:43946237	LRPPRC	Q696*	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Likely pathogenic (Dec 17, 2021)	criteria provided, single submitter
Select item 172632929.	NM_133259.4(LRPPRC):c.3787del (p.Asp1263fs) GRCh37: Chr2:44126396 GRCh38: Chr2:43899257	LRPPRC	D1263fs	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Likely pathogenic (Dec 16, 2021)	criteria provided, single submitter
Select item 172632030.	NM_133259.4(LRPPRC):c.2941del (p.Ile981fs) GRCh37: Chr2:44145493 GRCh38: Chr2:43918354	LRPPRC	I981fs	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Likely pathogenic (Dec 16, 2021)	criteria provided, single submitter
Select item 172618531.	NM_133259.4(LRPPRC):c.898_899delinsAGATGTGTATAAGAGACAG (p.Leu300delinsArgCysValTer) GRCh37: Chr2:44201863-44201864 GRCh38: Chr2:43974724-43974725	LRPPRC		Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Likely pathogenic (May 20, 2022)	criteria provided, single submitter
Select item 172616532.	NM_133259.4(LRPPRC):c.503T>A (p.Leu168Ter) GRCh37: Chr2:44204382 GRCh38: Chr2:43977243	LRPPRC	L168*	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Likely pathogenic (Dec 9, 2021)	criteria provided, single submitter
Select item 172610233.	NM_133259.4(LRPPRC):c.2119dup (p.Ser707fs) GRCh37: Chr2:44173342-44173343 GRCh38: Chr2:43946203-43946204	LRPPRC	S707fs	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Likely pathogenic (May 18, 2022)	criteria provided, single submitter
Select item 172608634.	NM_133259.4(LRPPRC):c.1557dup (p.Asn520fs) GRCh37: Chr2:44187704-44187705 GRCh38: Chr2:43960565-43960566	LRPPRC	N520fs	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Likely pathogenic (May 18, 2022)	criteria provided, single submitter
Select item 172606535.	NM_133259.4(LRPPRC):c.3774_3775insTCGTATGCCGT (p.Leu1259fs) GRCh37: Chr2:44126408-44126409 GRCh38: Chr2:43899269-43899270	LRPPRC	L1259fs	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Likely pathogenic (May 15, 2022)	criteria provided, single submitter
Select item 172602036.	NM_133259.4(LRPPRC):c.3691G>T (p.Glu1231Ter) GRCh37: Chr2:44126623 GRCh38: Chr2:43899484	LRPPRC	E1231*	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Likely pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 172600137.	NM_133259.4(LRPPRC):c.1082_1083delinsT (p.Cys361fs) GRCh37: Chr2:44201361-44201362 GRCh38: Chr2:43974222-43974223	LRPPRC	C361fs	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Likely pathogenic (May 2, 2022)	criteria provided, single submitter
Select item 172597938.	NM_133259.4(LRPPRC):c.31_32insATAAGAGACAG (p.Leu11fs) GRCh37: Chr2:44223055-44223056 GRCh38: Chr2:43995916-43995917	LRPPRC	L11fs	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Likely pathogenic (Apr 29, 2022)	criteria provided, single submitter
Select item 172597239.	NM_133259.4(LRPPRC):c.92del (p.Pro31fs) GRCh37: Chr2:44222995 GRCh38: Chr2:43995856	LRPPRC	P31fs	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Likely pathogenic (Apr 29, 2022)	criteria provided, single submitter
Select item 172593240.	NM_133259.4(LRPPRC):c.1574T>G (p.Leu525Ter) GRCh37: Chr2:44187688 GRCh38: Chr2:43960549	LRPPRC	L525*	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Likely pathogenic (Apr 16, 2022)	criteria provided, single submitter
Select item 172588241.	NM_133259.4(LRPPRC):c.3313dup (p.Ala1105fs) GRCh37: Chr2:44132881-44132882 GRCh38: Chr2:43905742-43905743	LRPPRC	A1105fs	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Likely pathogenic (Apr 4, 2022)	criteria provided, single submitter
Select item 172581442.	NM_133259.4(LRPPRC):c.3778_3779del (p.Gln1260fs) GRCh37: Chr2:44126404-44126405 GRCh38: Chr2:43899265-43899266	LRPPRC	Q1260fs	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Likely pathogenic (Apr 1, 2022)	criteria provided, single submitter
Select item 172571643.	NM_133259.4(LRPPRC):c.1165A>T (p.Lys389Ter) GRCh37: Chr2:44201030 GRCh38: Chr2:43973891	LRPPRC	K389*	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Likely pathogenic (Mar 31, 2022)	criteria provided, single submitter
Select item 172558444.	NM_133259.4(LRPPRC):c.3248_3249del (p.Phe1083fs) GRCh37: Chr2:44139597-44139598 GRCh38: Chr2:43912458-43912459	LRPPRC	F1083fs	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Likely pathogenic (Mar 30, 2022)	criteria provided, single submitter
Select item 172540145.	NM_133259.4(LRPPRC):c.1517_1518insAAAA (p.Met506fs) GRCh37: Chr2:44187744-44187745 GRCh38: Chr2:43960605-43960606	LRPPRC	M506fs	not provided, Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Pathogenic/Likely pathogenic (Mar 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 172535146.	NM_133259.4(LRPPRC):c.376_377insAAATTATTTTTTGAATACG (p.Leu126delinsGlnIleIlePheTer) GRCh37: Chr2:44207057-44207058 GRCh38: Chr2:43979918-43979919	LRPPRC		Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Likely pathogenic (Mar 17, 2022)	criteria provided, single submitter
Select item 172524747.	NM_133259.4(LRPPRC):c.2343del (p.Asp783fs) GRCh37: Chr2:44170987 GRCh38: Chr2:43943848	LRPPRC	D783fs	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Likely pathogenic (Mar 15, 2022)	criteria provided, single submitter
Select item 172518948.	NM_133259.4(LRPPRC):c.3227T>A (p.Leu1076Ter) GRCh37: Chr2:44139619 GRCh38: Chr2:43912480	LRPPRC	L1076*	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Likely pathogenic (Mar 14, 2022)	criteria provided, single submitter
Select item 172510749.	NM_133259.4(LRPPRC):c.2889del (p.Lys963fs) GRCh37: Chr2:44152213 GRCh38: Chr2:43925074	LRPPRC	K963fs	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Likely pathogenic (Nov 30, 2021)	criteria provided, single submitter
Select item 172510350.	NM_133259.4(LRPPRC):c.516T>A (p.Tyr172Ter) GRCh37: Chr2:44204369 GRCh38: Chr2:43977230	LRPPRC	Y172*	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Likely pathogenic (Mar 8, 2022)	criteria provided, single submitter
Select item 172509451.	NM_133259.4(LRPPRC):c.531T>A (p.Tyr177Ter) GRCh37: Chr2:44204354 GRCh38: Chr2:43977215	LRPPRC	Y177*	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Likely pathogenic (Mar 8, 2022)	criteria provided, single submitter
Select item 172499052.	NM_133259.4(LRPPRC):c.1931T>A (p.Leu644Ter) GRCh37: Chr2:44174904 GRCh38: Chr2:43947765	LRPPRC	L644*	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Likely pathogenic (Mar 4, 2022)	criteria provided, single submitter
Select item 172496653.	NM_133259.4(LRPPRC):c.151G>T (p.Gly51Ter) GRCh37: Chr2:44209572 GRCh38: Chr2:43982433	LRPPRC	G51*	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Likely pathogenic (Mar 3, 2022)	criteria provided, single submitter
Select item 172490954.	NM_133259.4(LRPPRC):c.3013del (p.Gln1005fs) GRCh37: Chr2:44145421 GRCh38: Chr2:43918282	LRPPRC	Q1005fs	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Likely pathogenic (Nov 24, 2021)	criteria provided, single submitter
Select item 172477755.	NM_133259.4(LRPPRC):c.2444del (p.Leu815fs) GRCh37: Chr2:44170886 GRCh38: Chr2:43943747	LRPPRC	L815fs	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Likely pathogenic (Feb 25, 2022)	criteria provided, single submitter
Select item 172451456.	NM_133259.4(LRPPRC):c.1115_1118delinsCTT (p.Phe372fs) GRCh37: Chr2:44201326-44201329 GRCh38: Chr2:43974187-43974190	LRPPRC	F372fs	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Likely pathogenic (Feb 17, 2022)	criteria provided, single submitter
Select item 172446657.	NM_133259.4(LRPPRC):c.3957del (p.Ala1320fs) GRCh37: Chr2:44121712 GRCh38: Chr2:43894573	LRPPRC	A1320fs	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Likely pathogenic (Feb 17, 2022)	criteria provided, single submitter
Select item 172446158.	NM_133259.4(LRPPRC):c.2632dup (p.Met878fs) GRCh37: Chr2:44161432-44161433 GRCh38: Chr2:43934293-43934294	LRPPRC	M878fs	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Likely pathogenic (Nov 13, 2021)	criteria provided, single submitter
Select item 172433559.	NM_133259.4(LRPPRC):c.1947_1948del (p.Asn650fs) GRCh37: Chr2:44174887-44174888 GRCh38: Chr2:43947748-43947749	LRPPRC	N650fs	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Likely pathogenic (Feb 6, 2022)	criteria provided, single submitter
Select item 172430160.	NM_133259.4(LRPPRC):c.392del (p.Gly131fs) GRCh37: Chr2:44207042 GRCh38: Chr2:43979903	LRPPRC	G131fs	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Likely pathogenic (Feb 5, 2022)	criteria provided, single submitter
Select item 172429461.	NM_133259.4(LRPPRC):c.532A>T (p.Lys178Ter) GRCh37: Chr2:44204353 GRCh38: Chr2:43977214	LRPPRC	K178*	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Likely pathogenic (Feb 5, 2022)	criteria provided, single submitter
Select item 172422062.	NM_133259.4(LRPPRC):c.3156T>A (p.Tyr1052Ter) GRCh37: Chr2:44139690 GRCh38: Chr2:43912551	LRPPRC	Y1052*	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Likely pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 172420963.	NM_133259.4(LRPPRC):c.3261_3262del (p.Met1087fs) GRCh37: Chr2:44139584-44139585 GRCh38: Chr2:43912445-43912446	LRPPRC	M1087fs	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Likely pathogenic (Feb 1, 2022)	criteria provided, single submitter
Select item 172405964.	NM_133259.4(LRPPRC):c.1179C>A (p.Tyr393Ter) GRCh37: Chr2:44201016 GRCh38: Chr2:43973877	LRPPRC	Y393*	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Likely pathogenic (Jan 24, 2022)	criteria provided, single submitter
Select item 172391165.	NM_133259.4(LRPPRC):c.3778_3780delinsT (p.Gln1260fs) GRCh37: Chr2:44126403-44126405 GRCh38: Chr2:43899264-43899266	LRPPRC	Q1260fs	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Likely pathogenic (Jan 8, 2022)	criteria provided, single submitter
Select item 172247366.	NM_133259.4(LRPPRC):c.149+1G>T GRCh37: Chr2:44222937 GRCh38: Chr2:43995798	LRPPRC		Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Likely pathogenic (Sep 8, 2022)	criteria provided, single submitter
Select item 170505767.	NM_133259.4(LRPPRC):c.1972C>T (p.Gln658Ter) GRCh37: Chr2:44174503 GRCh38: Chr2:43947364	LRPPRC	Q658*	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Likely pathogenic (Aug 8, 2022)	criteria provided, single submitter
Select item 169866368.	NM_133259.4(LRPPRC):c.7G>T (p.Ala3Ser) GRCh37: Chr2:44223080 GRCh38: Chr2:43995941	LRPPRC	A3S	not provided, Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, not specified	Conflicting interpretations of pathogenicity (Aug 22, 2022)	criteria provided, conflicting interpretations
Select item 137879969.	NM_133259.4(LRPPRC):c.2167C>T (p.Arg723Ter) GRCh37: Chr2:44173295 GRCh38: Chr2:43946156	LRPPRC	R723*	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, not provided	Pathogenic/Likely pathogenic (Jun 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134372770.	NM_133259.4(LRPPRC):c.2441_2444del (p.Thr814fs) GRCh37: Chr2:44170886-44170889 GRCh38: Chr2:43943747-43943750	LRPPRC	T814fs	not provided, Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Pathogenic/Likely pathogenic (Apr 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134239071.	NM_133259.4(LRPPRC):c.2179G>A (p.Val727Ile) GRCh37: Chr2:44173283 GRCh38: Chr2:43946144	LRPPRC	V727I	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Uncertain significance (Feb 19, 2021)	criteria provided, single submitter
Select item 131046372.	NM_133259.4(LRPPRC):c.515A>G (p.Tyr172Cys) GRCh37: Chr2:44204370 GRCh38: Chr2:43977231	LRPPRC	Y172C	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, not provided	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120960073.	NM_133259.4(LRPPRC):c.1035A>G (p.Leu345=) GRCh37: Chr2:44201409 GRCh38: Chr2:43974270	LRPPRC		Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter
Select item 120959974.	NM_133259.4(LRPPRC):c.1316C>T (p.Pro439Leu) GRCh37: Chr2:44200799 GRCh38: Chr2:43973660	LRPPRC	P439L	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter
Select item 119909775.	NM_133259.4(LRPPRC):c.2141A>G (p.Tyr714Cys) GRCh37: Chr2:44173321 GRCh38: Chr2:43946182	LRPPRC	Y714C	not provided	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 118479976.	NM_133259.4(LRPPRC):c.149+57G>T GRCh37: Chr2:44222881 GRCh38: Chr2:43995742	LRPPRC		not provided, Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118478377.	NM_133259.4(LRPPRC):c.1489-56T>G GRCh37: Chr2:44187829 GRCh38: Chr2:43960690	LRPPRC		not provided, Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118478278.	NM_133259.4(LRPPRC):c.1582+28T>C GRCh37: Chr2:44187652 GRCh38: Chr2:43960513	LRPPRC		not provided, Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118478179.	NM_133259.4(LRPPRC):c.2080-40A>C GRCh37: Chr2:44173422 GRCh38: Chr2:43946283	LRPPRC		not provided, Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118478080.	NM_133259.4(LRPPRC):c.2806-110C>A GRCh37: Chr2:44152406 GRCh38: Chr2:43925267	LRPPRC		not provided, Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118477981.	NM_133259.4(LRPPRC):c.2896+26C>T GRCh37: Chr2:44152180 GRCh38: Chr2:43925041	LRPPRC		not provided, Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118477882.	NM_133259.4(LRPPRC):c.3039+21C>A GRCh37: Chr2:44145374 GRCh38: Chr2:43918235	LRPPRC		not provided, Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118477783.	NM_133259.4(LRPPRC):c.3275+97T>C GRCh37: Chr2:44139474 GRCh38: Chr2:43912335	LRPPRC		not provided, Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118476384.	NM_133259.4(LRPPRC):c.4128+37G>A GRCh37: Chr2:44116836 GRCh38: Chr2:43889697	LRPPRC		not provided, Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118379585.	NM_133259.4(LRPPRC):c.2296+27T>G GRCh37: Chr2:44172444 GRCh38: Chr2:43945305	LRPPRC		not provided, Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 116895886.	NM_133259.4(LRPPRC):c.738-18T>C GRCh37: Chr2:44202374 GRCh38: Chr2:43975235	LRPPRC		Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, not provided	Benign/Likely benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 114726687.	NM_133259.4(LRPPRC):c.111C>T (p.Ala37=) GRCh37: Chr2:44222976 GRCh38: Chr2:43995837	LRPPRC		not provided	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 112537788.	NM_133259.4(LRPPRC):c.3174A>G (p.Ala1058=) GRCh37: Chr2:44139672 GRCh38: Chr2:43912533	LRPPRC		not provided	Likely benign (Oct 1, 2022)	criteria provided, single submitter
Select item 111461089.	NM_133259.4(LRPPRC):c.888C>T (p.Ser296=) GRCh37: Chr2:44201874 GRCh38: Chr2:43974735	LRPPRC		not provided	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 103305290.	NM_133259.4(LRPPRC):c.695A>C (p.Glu232Ala) GRCh37: Chr2:44203324 GRCh38: Chr2:43976185	LRPPRC	E232A	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Uncertain significance (Feb 26, 2018)	criteria provided, single submitter
Select item 103305091.	NM_133259.4(LRPPRC):c.338G>T (p.Cys113Phe) GRCh37: Chr2:44209385 GRCh38: Chr2:43982246	LRPPRC	C113F	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Uncertain significance (Jul 21, 2018)	criteria provided, single submitter
Select item 103238792.	NM_133259.4(LRPPRC):c.1695C>G (p.Tyr565Ter) GRCh37: Chr2:44176781 GRCh38: Chr2:43949642	LRPPRC	Y565*	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Likely pathogenic (Jan 31, 2018)	criteria provided, single submitter
Select item 103238693.	NM_133259.4(LRPPRC):c.1547C>T (p.Ala516Val) GRCh37: Chr2:44187715 GRCh38: Chr2:43960576	LRPPRC	A516V	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Uncertain significance (Apr 27, 2018)	criteria provided, single submitter
Select item 103238594.	NM_133259.4(LRPPRC):c.116A>G (p.Tyr39Cys) GRCh37: Chr2:44222971 GRCh38: Chr2:43995832	LRPPRC	Y39C	not provided, Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102906795.	NM_133259.4(LRPPRC):c.295C>T (p.Arg99Cys) GRCh37: Chr2:44209428 GRCh38: Chr2:43982289	LRPPRC	R99C	not provided, Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Uncertain significance (Apr 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102906696.	NM_133259.4(LRPPRC):c.289A>G (p.Thr97Ala) GRCh37: Chr2:44209434 GRCh38: Chr2:43982295	LRPPRC	T97A	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Uncertain significance (May 7, 2020)	criteria provided, single submitter
Select item 102463797.	NM_133259.4(LRPPRC):c.2966G>C (p.Arg989Pro) GRCh37: Chr2:44145468 GRCh38: Chr2:43918329	LRPPRC	R989P	not provided	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 99687998.	NM_133259.4(LRPPRC):c.3568A>G (p.Asn1190Asp) GRCh37: Chr2:44128460 GRCh38: Chr2:43901321	LRPPRC	N1190D	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Uncertain significance (Sep 26, 2019)	criteria provided, single submitter
Select item 99130399.	NM_133259.4(LRPPRC):c.217A>G (p.Thr73Ala) GRCh37: Chr2:44209506 GRCh38: Chr2:43982367	LRPPRC	T73A	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Uncertain significance (Aug 14, 2020)	no assertion criteria provided
Select item 991302100.	NM_133259.4(LRPPRC):c.348T>C (p.Gly116=) GRCh37: Chr2:44207086 GRCh38: Chr2:43979947	LRPPRC		Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Uncertain significance (Aug 14, 2020)	no assertion criteria provided

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