"Baylor Genetics"[submitter] AND "LRPPRC"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 551554	NM_133259.4(LRPPRC):c.4128+1G>A	LRPPRC	Single nucleotide variant (splice donor variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 225408	NM_133259.4(LRPPRC):c.4128del (p.Glu1377fs)	LRPPRC (E1377fs)	Deletion (frameshift variant)	not specified +2 more	GUncertain significance
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 985865	NM_133259.4(LRPPRC):c.4078G>T (p.Ala1360Ser)	LRPPRC (A1360S)	Single nucleotide variant (missense variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type +2 more	GUncertain significance
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 554835	NM_133259.4(LRPPRC):c.4077C>G (p.Tyr1359Ter)	LRPPRC (Y1359*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 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 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 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 218165	NM_133259.4(LRPPRC):c.3900+1G>C	LRPPRC	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
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 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 1452329	NM_133259.4(LRPPRC):c.3773dup (p.Leu1259fs)	LRPPRC (L1259fs)	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 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 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 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 524001	NM_133259.4(LRPPRC):c.3566dup (p.Asn1190fs)	LRPPRC (N1190fs)	Duplication (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type +1 more	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 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 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 2676316	NM_133259.4(LRPPRC):c.3254_3255del (p.Gln1085fs)	LRPPRC (Q1085fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2676321	NM_133259.4(LRPPRC):c.3151del	LRPPRC	Deletion	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 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 218169	NM_133259.4(LRPPRC):c.3147dup (p.Gly1050fs)	LRPPRC (G1050fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
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 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 550910	NM_133259.4(LRPPRC):c.3003_3006del (p.Glu1002fs)	LRPPRC (E1002fs)	Microsatellite (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 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 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 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 556818	NM_133259.4(LRPPRC):c.2545_2558del (p.Tyr849fs)	LRPPRC (Y849fs)	Deletion (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 1456406	NM_133259.4(LRPPRC):c.2369dup (p.His791fs)	LRPPRC (H791fs)	Duplication (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type +1 more	GPathogenic/Likely pathogenic
Select item 813358	NM_133259.4(LRPPRC):c.2326G>T (p.Glu776Ter)	LRPPRC (E776*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely 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 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 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 1378799	NM_133259.4(LRPPRC):c.2167C>T (p.Arg723Ter)	LRPPRC (R723*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely 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 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 1705057	NM_133259.4(LRPPRC):c.1972C>T (p.Gln658Ter)	LRPPRC (Q658*)	Single nucleotide variant (nonsense)	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 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 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 555275	NM_133259.4(LRPPRC):c.1887_1889del (p.Leu630del)	LRPPRC (L630del)	Deletion (inframe_deletion)	Mitochondrial complex IV deficiency, nuclear type 5, French-Canadian +1 more	GUncertain significance
Select item 554233	NM_133259.4(LRPPRC):c.1865_1868del (p.Ile622fs)	LRPPRC (I622fs)	Deletion (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type +1 more	GPathogenic/Likely 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 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 2676301	NM_133259.4(LRPPRC):c.1735+2T>C	LRPPRC	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 555555	NM_133259.4(LRPPRC):c.1722_1723del (p.Gly576fs)	LRPPRC (G576fs)	Deletion (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type +1 more	GPathogenic/Likely pathogenic
Select item 554351	NM_133259.4(LRPPRC):c.1723C>T (p.Arg575Ter)	LRPPRC (R575*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1032387	NM_133259.4(LRPPRC):c.1695C>G (p.Tyr565Ter)	LRPPRC (Y565*)	Single nucleotide variant (nonsense)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 1509701	NM_133259.4(LRPPRC):c.1677+1G>T	LRPPRC	Single nucleotide variant (splice donor variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type +1 more	GLikely pathogenic
Select item 552573	NM_133259.4(LRPPRC):c.1612C>T (p.Gln538Ter)	LOC129388857, LRPPRC (Q538*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 550645	NM_133259.4(LRPPRC):c.1589C>A (p.Ser530Ter)	LOC129388857, LRPPRC (S530*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely 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 1032386	NM_133259.4(LRPPRC):c.1547C>T (p.Ala516Val)	LRPPRC (A516V)	Single nucleotide variant (missense variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 1073935	NM_133259.4(LRPPRC):c.1431T>G (p.Tyr477Ter)	LRPPRC (Y477*)	Single nucleotide variant (nonsense)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type +1 more	GPathogenic
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 1454755	NM_133259.4(LRPPRC):c.1361del (p.Asn454fs)	LRPPRC (N454fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 214605	NM_133259.4(LRPPRC):c.1295A>G (p.Glu432Gly)	LRPPRC (E432G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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 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 551574	NM_133259.4(LRPPRC):c.1195del (p.Glu399fs)	LRPPRC (E399fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely 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 1069138	NM_133259.4(LRPPRC):c.1092_1095del (p.Glu366fs)	LRPPRC (E366fs)	Deletion (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type +1 more	GPathogenic/Likely pathogenic
Select item 555451	NM_133259.4(LRPPRC):c.1091C>G (p.Ser364Ter)	LRPPRC (S364*)	Single nucleotide variant (nonsense)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 3110	NM_133259.4(LRPPRC):c.1061C>T (p.Ala354Val)	LRPPRC (A354V)	Single nucleotide variant (missense variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type +1 more	GPathogenic
Select item 214602	NM_133259.4(LRPPRC):c.908G>A (p.Arg303His)	LRPPRC (R303H)	Single nucleotide variant (missense variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type +1 more	GUncertain significance
Select item 214601	NM_133259.4(LRPPRC):c.864+2T>C	LRPPRC	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely 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 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 1033052	NM_133259.4(LRPPRC):c.695A>C (p.Glu232Ala)	LRPPRC (E232A)	Single nucleotide variant (missense variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
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 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 2676294	NM_133259.4(LRPPRC):c.650+1G>A	LRPPRC	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 551305	NM_133259.4(LRPPRC):c.650+1G>C	LRPPRC	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 555594	NM_133259.4(LRPPRC):c.589C>T (p.Arg197Ter)	LRPPRC (R197*)	Single nucleotide variant (nonsense)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type +1 more	GPathogenic/Likely 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 1310463	NM_133259.4(LRPPRC):c.515A>G (p.Tyr172Cys)	LRPPRC (Y172C)	Single nucleotide variant (missense variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type +1 more	GConflicting classifications of pathogenicity
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 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 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 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 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 1033050	NM_133259.4(LRPPRC):c.338G>T (p.Cys113Phe)	LRPPRC (C113F)	Single nucleotide variant (missense variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
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 1029067	NM_133259.4(LRPPRC):c.295C>T (p.Arg99Cys)	LRPPRC (R99C)	Single nucleotide variant (missense variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type +1 more	GUncertain significance
Select item 1029066	NM_133259.4(LRPPRC):c.289A>G (p.Thr97Ala)	LRPPRC (T97A)	Single nucleotide variant (missense variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 843177	NM_133259.4(LRPPRC):c.283C>T (p.Arg95Ter)	LRPPRC (R95*)	Single nucleotide variant (nonsense)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type +1 more	GPathogenic/Likely pathogenic
Select item 1365851	NM_133259.4(LRPPRC):c.255G>A (p.Trp85Ter)	LRPPRC (W85*)	Single nucleotide variant (nonsense)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type +1 more	GPathogenic/Likely pathogenic
Select item 554468	NM_133259.4(LRPPRC):c.254G>A (p.Trp85Ter)	LRPPRC (W85*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 553056	NM_133259.4(LRPPRC):c.251_254del (p.Asp84fs)	LRPPRC (D84fs)	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

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