ClinVar for MedGen (Select 387801) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366767	NM_133259.4(LRPPRC):c.3364+2T>C	LRPPRC	Single nucleotide variant (splice donor variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 3241836	NM_133259.4(LRPPRC):c.3446T>A (p.Leu1149Ter)	LRPPRC (L1149*)	Single nucleotide variant (nonsense)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 3241835	NM_133259.4(LRPPRC):c.3825+1G>A	LRPPRC	Single nucleotide variant (splice donor variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 3241834	NM_133259.4(LRPPRC):c.3778C>T (p.Gln1260Ter)	LRPPRC (Q1260*)	Single nucleotide variant (nonsense)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 3241833	NM_133259.4(LRPPRC):c.14_47delinsCTCAG (p.Leu5fs)	LRPPRC (L5fs)	Indel (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 3241832	NM_133259.4(LRPPRC):c.683_684del (p.Leu228fs)	LRPPRC (L228fs)	Microsatellite (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 3241831	NM_133259.4(LRPPRC):c.356_362del (p.Gly119fs)	LRPPRC (G119fs)	Deletion (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 3241830	NM_133259.4(LRPPRC):c.3985+1G>T	LRPPRC	Single nucleotide variant (splice donor variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 3241829	NM_133259.4(LRPPRC):c.4023T>G (p.Tyr1341Ter)	LRPPRC (Y1341*)	Single nucleotide variant (nonsense)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 3241828	NM_133259.4(LRPPRC):c.3706A>T (p.Lys1236Ter)	LRPPRC (K1236*)	Single nucleotide variant (nonsense)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 3241827	NM_133259.4(LRPPRC):c.1758T>G (p.Tyr586Ter)	LRPPRC (Y586*)	Single nucleotide variant (nonsense)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 3233825	NM_133259.4(LRPPRC):c.3275+1G>T	LRPPRC	Single nucleotide variant (splice donor variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 3065750	NM_133259.4(LRPPRC):c.2106del (p.Ala703fs)	LRPPRC (A703fs)	Deletion (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 2712543	NM_133259.4(LRPPRC):c.3310del (p.Asp1104fs)	LRPPRC (D1104fs)	Deletion (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type +1 more	GPathogenic/Likely pathogenic
Select item 2689382	NM_133259.4(LRPPRC):c.3529A>C (p.Met1177Leu)	LRPPRC (M1177L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2676335	NM_133259.4(LRPPRC):c.1944_1947del (p.Ser648fs)	LRPPRC (S648fs)	Deletion (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 2676334	NM_133259.4(LRPPRC):c.2211-1G>A	LRPPRC	Single nucleotide variant (splice acceptor variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 2676333	NM_133259.4(LRPPRC):c.2285del (p.Gly762fs)	LRPPRC (G762fs)	Deletion (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 2676332	NM_133259.4(LRPPRC):c.3563_3566del (p.Ile1188fs)	LRPPRC (I1188fs)	Deletion (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 2676331	NM_133259.4(LRPPRC):c.3826-1G>A	LRPPRC	Single nucleotide variant (splice acceptor variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 2676330	NM_133259.4(LRPPRC):c.451del (p.Asp151fs)	LRPPRC (D151fs)	Deletion (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 2676329	NM_133259.4(LRPPRC):c.4114_4115insAT (p.Phe1372fs)	LRPPRC (F1372fs)	Insertion (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 2676328	NM_133259.4(LRPPRC):c.3645C>G (p.Tyr1215Ter)	LRPPRC (Y1215*)	Single nucleotide variant (nonsense)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 2676327	NM_133259.4(LRPPRC):c.2630-5_2630-2del	LRPPRC	Microsatellite (splice acceptor variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 2676326	NM_133259.4(LRPPRC):c.738-1G>A	LRPPRC	Single nucleotide variant (splice acceptor variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 2676325	NM_133259.4(LRPPRC):c.3979_3981delinsGG (p.Ser1327fs)	LRPPRC (S1327fs)	Indel (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 2676324	NM_133259.4(LRPPRC):c.1216_1237dup (p.Cys413fs)	LRPPRC (C413fs)	Duplication (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 2676323	NM_133259.4(LRPPRC):c.2559dup (p.Val854fs)	LRPPRC (V854fs)	Duplication (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 2676322	NM_133259.4(LRPPRC):c.1544_1548dup (p.Ala517fs)	LRPPRC (A517fs)	Duplication (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 2676321	NM_133259.4(LRPPRC):c.3151del	LRPPRC	Deletion	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 2676320	NM_133259.4(LRPPRC):c.3031del (p.Val1011fs)	LRPPRC (V1011fs)	Deletion (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 2676319	NM_133259.4(LRPPRC):c.2569_2585del (p.Arg857fs)	LRPPRC (R857fs)	Deletion (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 2676318	NM_133259.4(LRPPRC):c.245del (p.Gln82fs)	LRPPRC (Q82fs)	Deletion (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 2676316	NM_133259.4(LRPPRC):c.3254_3255del (p.Gln1085fs)	LRPPRC (Q1085fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2676315	NM_133259.4(LRPPRC):c.1966-2A>G	LRPPRC	Single nucleotide variant (splice acceptor variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 2676314	NM_133259.4(LRPPRC):c.1775del (p.Met592fs)	LRPPRC (M592fs)	Deletion (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 2676313	NM_133259.4(LRPPRC):c.1156-2A>C	LRPPRC	Single nucleotide variant (splice acceptor variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 2676312	NM_133259.4(LRPPRC):c.205C>T (p.Gln69Ter)	LRPPRC (Q69*)	Single nucleotide variant (nonsense)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 2676311	NM_133259.4(LRPPRC):c.3149-2A>T	LRPPRC	Single nucleotide variant (splice acceptor variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 2676310	NM_133259.4(LRPPRC):c.738-2A>C	LRPPRC	Single nucleotide variant (splice acceptor variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 2676309	NM_133259.4(LRPPRC):c.3148+1G>T	LRPPRC	Single nucleotide variant (splice donor variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 2676308	NM_133259.4(LRPPRC):c.1165_1198del (p.Lys389fs)	LRPPRC (K389fs)	Deletion (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 2676307	NM_133259.4(LRPPRC):c.495T>G (p.Tyr165Ter)	LRPPRC (Y165*)	Single nucleotide variant (nonsense)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 2676306	NM_133259.4(LRPPRC):c.3985+1811_4077delinsA	LRPPRC	Indel (splice acceptor variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 2676305	NM_133259.4(LRPPRC):c.3941T>G (p.Leu1314Ter)	LRPPRC (L1314*)	Single nucleotide variant (nonsense)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 2676304	NM_133259.4(LRPPRC):c.3928_3938del (p.Leu1310fs)	LRPPRC (L1310fs)	Deletion (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 2676303	NM_133259.4(LRPPRC):c.346+1G>T	LRPPRC	Single nucleotide variant (splice donor variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 2676302	NM_133259.4(LRPPRC):c.650+1del	LRPPRC	Deletion (splice donor variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 2676301	NM_133259.4(LRPPRC):c.1735+2T>C	LRPPRC	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 2676300	NM_133259.4(LRPPRC):c.456_457del (p.Leu153fs)	LRPPRC (L153fs)	Microsatellite (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 2676299	NM_133259.4(LRPPRC):c.1389_1393del (p.Lys463fs)	LRPPRC (K463fs)	Deletion (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 2676298	NM_133259.4(LRPPRC):c.580del (p.Gln194fs)	LRPPRC (Q194fs)	Deletion (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 2676297	NM_133259.4(LRPPRC):c.2225C>A (p.Ser742Ter)	LRPPRC (S742*)	Single nucleotide variant (nonsense)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 2676296	NM_133259.4(LRPPRC):c.320_321del (p.Lys107fs)	LRPPRC (K107fs)	Deletion (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 2676295	NM_133259.4(LRPPRC):c.3979del (p.Ser1327fs)	LRPPRC (S1327fs)	Deletion (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 2676294	NM_133259.4(LRPPRC):c.650+1G>A	LRPPRC	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 2676293	NM_133259.4(LRPPRC):c.2024dup (p.Asn675fs)	LRPPRC (N675fs)	Duplication (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 2676292	NM_133259.4(LRPPRC):c.2986_3001del (p.Leu996fs)	LRPPRC (L996fs)	Deletion (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type +1 more	GPathogenic/Likely pathogenic
Select item 2503846	NM_133259.4(LRPPRC):c.1369+2T>A	LRPPRC	Single nucleotide variant (splice donor variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 2500756	NC_000002.12:g.43986415_44009956del	LRPPRC	Deletion	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GPathogenic
Select item 2500755	NM_133259.4(LRPPRC):c.2882T>C (p.Leu961Pro)	LRPPRC (L961P)	Single nucleotide variant (missense variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 2433532	NM_133259.4(LRPPRC):c.1087G>A (p.Val363Ile)	LRPPRC (V363I)	Single nucleotide variant (missense variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type +1 more	GConflicting classifications of pathogenicity
Select item 2433530	NM_133259.4(LRPPRC):c.567G>C (p.Glu189Asp)	LRPPRC (E189D)	Single nucleotide variant (missense variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 2433529	NM_133259.4(LRPPRC):c.2263G>A (p.Val755Ile)	LRPPRC (V755I)	Single nucleotide variant (missense variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 2433528	NM_133259.4(LRPPRC):c.1649+3A>G	LOC129388857, LRPPRC	Single nucleotide variant (intron variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 2433527	NM_133259.4(LRPPRC):c.319A>G (p.Lys107Glu)	LRPPRC (K107E)	Single nucleotide variant (missense variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 2433526	NM_133259.4(LRPPRC):c.1456G>A (p.Asp486Asn)	LRPPRC (D486N)	Single nucleotide variant (missense variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 2433525	NM_133259.4(LRPPRC):c.2557A>G (p.Lys853Glu)	LRPPRC (K853E)	Single nucleotide variant (missense variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 2433524	NM_133259.4(LRPPRC):c.1216C>T (p.Pro406Ser)	LRPPRC (P406S)	Single nucleotide variant (missense variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 2399689	NM_133259.4(LRPPRC):c.2753C>T (p.Ala918Val)	LRPPRC (A918V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2089367	NM_133259.4(LRPPRC):c.3663dup (p.Phe1222fs)	LRPPRC (F1222fs)	Duplication (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type +1 more	GPathogenic/Likely pathogenic
Select item 2053945	NM_133259.4(LRPPRC):c.3737_3740del (p.Asn1246fs)	LRPPRC (N1246fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2024898	NM_133259.4(LRPPRC):c.3044G>A (p.Trp1015Ter)	LRPPRC (W1015*)	Single nucleotide variant (nonsense)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type +1 more	GPathogenic/Likely pathogenic
Select item 2019273	NM_133259.4(LRPPRC):c.1965+2T>C	LRPPRC	Single nucleotide variant (splice donor variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type +1 more	GLikely pathogenic
Select item 1726967	NM_133259.4(LRPPRC):c.1277T>A (p.Leu426Ter)	LRPPRC (L426*)	Single nucleotide variant (nonsense)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 1726943	NM_133259.4(LRPPRC):c.3465_3466delinsA (p.Glu1156fs)	LRPPRC (E1156fs)	Indel (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 1726901	NM_133259.4(LRPPRC):c.2488_2489del (p.Thr830fs)	LRPPRC (T830fs)	Deletion (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 1726820	NM_133259.4(LRPPRC):c.3697_3701delinsCAAG (p.Ala1233fs)	LRPPRC (A1233fs)	Indel (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 1726819	NM_133259.4(LRPPRC):c.883A>T (p.Lys295Ter)	LRPPRC (K295*)	Single nucleotide variant (nonsense)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 1726809	NM_133259.4(LRPPRC):c.1493_1495delinsTTGT (p.Asn498fs)	LRPPRC (N498fs)	Indel (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 1726796	NM_133259.4(LRPPRC):c.406_407del (p.Glu136fs)	LRPPRC (E136fs)	Deletion (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 1726760	NM_133259.4(LRPPRC):c.1378G>T (p.Glu460Ter)	LRPPRC (E460*)	Single nucleotide variant (nonsense)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 1726705	NM_133259.4(LRPPRC):c.508A>T (p.Lys170Ter)	LRPPRC (K170*)	Single nucleotide variant (nonsense)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 1726701	NM_133259.4(LRPPRC):c.509_510insGATGTGTATAAGAGAC (p.Val171fs)	LRPPRC (V171fs)	Insertion (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 1726693	NM_133259.4(LRPPRC):c.2406_2407del (p.Glu803fs)	LRPPRC (E803fs)	Deletion (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 1726624	NM_133259.4(LRPPRC):c.811del (p.Leu271fs)	LRPPRC (L271fs)	Deletion (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 1726613	NM_133259.4(LRPPRC):c.186_193delinsAAAA (p.Ala63fs)	LRPPRC (A63fs)	Indel (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 1726485	NM_133259.4(LRPPRC):c.93_94delinsAGCA (p.Gly32fs)	LRPPRC (G32fs)	Indel (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 1726475	NM_133259.4(LRPPRC):c.2246_2247insTATAAGAGACAGT (p.Lys750fs)	LRPPRC (K750fs)	Insertion (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 1726465	NM_133259.4(LRPPRC):c.54_57delinsTCG (p.Leu20fs)	LRPPRC (L20fs)	Indel (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 1726413	NM_133259.4(LRPPRC):c.2086C>T (p.Gln696Ter)	LRPPRC (Q696*)	Single nucleotide variant (nonsense)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 1726329	NM_133259.4(LRPPRC):c.3787del (p.Asp1263fs)	LRPPRC (D1263fs)	Deletion (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 1726320	NM_133259.4(LRPPRC):c.2941del (p.Ile981fs)	LRPPRC (I981fs)	Deletion (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 1726185	NM_133259.4(LRPPRC):c.898_899delinsAGATGTGTATAAGAGACAG (p.Leu300delinsArgCysValTer)	LRPPRC	Indel (nonsense)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 1726165	NM_133259.4(LRPPRC):c.503T>A (p.Leu168Ter)	LRPPRC (L168*)	Single nucleotide variant (nonsense)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 1726102	NM_133259.4(LRPPRC):c.2119dup (p.Ser707fs)	LRPPRC (S707fs)	Duplication (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 1726086	NM_133259.4(LRPPRC):c.1557dup (p.Asn520fs)	LRPPRC (N520fs)	Duplication (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 1726065	NM_133259.4(LRPPRC):c.3774_3775insTCGTATGCCGT (p.Leu1259fs)	LRPPRC (L1259fs)	Insertion (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 1726020	NM_133259.4(LRPPRC):c.3691G>T (p.Glu1231Ter)	LRPPRC (E1231*)	Single nucleotide variant (nonsense)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 1726001	NM_133259.4(LRPPRC):c.1082_1083delinsT (p.Cys361fs)	LRPPRC (C361fs)	Indel (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic

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