"GeneDx"[submitter] AND "LRPPRC"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 1209202	NM_133259.4(LRPPRC):c.4180T>G (p.Ser1394Ala)	LRPPRC (S1394A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 336143	NM_133259.4(LRPPRC):c.4177T>G (p.Ser1393Ala)	LRPPRC (S1393A)	Single nucleotide variant (missense variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type +1 more	GUncertain significance
Select item 214599	NM_133259.4(LRPPRC):c.4132A>G (p.Ser1378Gly)	LRPPRC (S1378G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 515102	NM_133259.4(LRPPRC):c.4129-8C>T	LRPPRC	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1268467	NM_133259.4(LRPPRC):c.4129-247_4129-246del	LRPPRC	Deletion (intron variant)	not provided	GBenign
Select item 684334	NM_133259.4(LRPPRC):c.4129-305G>A	LRPPRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186983	NM_133259.4(LRPPRC):c.4128+165_4128+166del	LRPPRC	Deletion (intron variant)	not provided	GLikely benign
Select item 1184763	NM_133259.4(LRPPRC):c.4128+37G>A	LRPPRC	Single nucleotide variant (intron variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type +1 more	GBenign
Select item 225408	NM_133259.4(LRPPRC):c.4128del (p.Glu1377fs)	LRPPRC (E1377fs)	Deletion (frameshift variant)	not specified +2 more	GUncertain significance
Select item 746339	NM_133259.4(LRPPRC):c.4078G>A (p.Ala1360Thr)	LRPPRC (A1360T)	Single nucleotide variant (missense variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type +1 more	GBenign/Likely benign
Select item 671514	NM_133259.4(LRPPRC):c.4077C>T (p.Tyr1359=)	LRPPRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1303917	NM_133259.4(LRPPRC):c.4073G>A (p.Arg1358His)	LRPPRC (R1358H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 214598	NM_133259.4(LRPPRC):c.4056T>A (p.Asp1352Glu)	LRPPRC (D1352E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1719859	NM_133259.4(LRPPRC):c.4022A>G (p.Tyr1341Cys)	LRPPRC (Y1341C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 676031	NM_133259.4(LRPPRC):c.3986-31T>G	LRPPRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214425	NM_133259.4(LRPPRC):c.3986-83C>T	LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1199108	NM_133259.4(LRPPRC):c.3985+188_3985+190del	LRPPRC	Deletion (intron variant)	not provided	GLikely benign
Select item 422090	NM_133259.4(LRPPRC):c.3985+14_3985+18del	LRPPRC	Deletion (intron variant)	not provided +1 more	GLikely benign
Select item 382719	NM_133259.4(LRPPRC):c.3984T>C (p.Tyr1328=)	LRPPRC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 214597	NM_133259.4(LRPPRC):c.3963C>A (p.Tyr1321Ter)	LRPPRC (Y1321*)	Single nucleotide variant (nonsense)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type +1 more	GPathogenic/Likely pathogenic
Select item 489361	NM_133259.4(LRPPRC):c.3952G>T (p.Glu1318Ter)	LRPPRC (E1318*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 516160	NM_133259.4(LRPPRC):c.3901-14A>G	LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 684333	NM_133259.4(LRPPRC):c.3901-160A>G	LRPPRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 684331	NM_133259.4(LRPPRC):c.3901-175T>C	LRPPRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214465	NM_133259.4(LRPPRC):c.3900+298C>T	LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1192763	NM_133259.4(LRPPRC):c.3900+259G>T	LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672557	NM_133259.4(LRPPRC):c.3900+193G>T	LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247415	NM_133259.4(LRPPRC):c.3900+100del	LRPPRC	Deletion (intron variant)	not provided	GBenign
Select item 336146	NM_133259.4(LRPPRC):c.3900+15C>T	LRPPRC	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 336147	NM_133259.4(LRPPRC):c.3900+14C>T	LRPPRC	Single nucleotide variant (intron variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type +1 more	GBenign
Select item 730251	NM_133259.4(LRPPRC):c.3855G>C (p.Pro1285=)	LRPPRC	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 382972	NM_133259.4(LRPPRC):c.3837A>G (p.Ala1279=)	LRPPRC	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1191470	NM_133259.4(LRPPRC):c.3828A>G (p.Arg1276=)	LRPPRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 511195	NM_133259.4(LRPPRC):c.3826-16_3826-14dup	LRPPRC	Duplication (intron variant)	not specified	GLikely benign
Select item 684328	NM_133259.4(LRPPRC):c.3826-208A>G	LRPPRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672556	NM_133259.4(LRPPRC):c.3825+299A>G	LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 138154	NM_133259.4(LRPPRC):c.3825+15C>T	LRPPRC	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1310462	NM_133259.4(LRPPRC):c.3817C>G (p.Leu1273Val)	LRPPRC (L1273V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305306	NM_133259.4(LRPPRC):c.3815C>G (p.Ala1272Gly)	LRPPRC (A1272G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214617	NM_133259.4(LRPPRC):c.3809C>T (p.Ala1270Val)	LRPPRC (A1270V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1144063	NM_133259.4(LRPPRC):c.3690G>A (p.Leu1230=)	LRPPRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3367974	NM_133259.4(LRPPRC):c.3625A>G (p.Lys1209Glu)	LRPPRC (K1209E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2057991	NM_133259.4(LRPPRC):c.3617C>T (p.Ser1206Leu)	LRPPRC (S1206L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 214594	NM_133259.4(LRPPRC):c.3595A>G (p.Asn1199Asp)	LRPPRC (N1199D)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 3340814	NM_133259.4(LRPPRC):c.3591A>G (p.Ile1197Met)	LRPPRC (I1197M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 336149	NM_133259.4(LRPPRC):c.3586G>A (p.Ala1196Thr)	LRPPRC (A1196T)	Single nucleotide variant (missense variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type +1 more	GConflicting classifications of pathogenicity
Select item 380070	NM_133259.4(LRPPRC):c.3585C>T (p.Ala1195=)	LRPPRC	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 550142	NM_133259.4(LRPPRC):c.3578T>C (p.Ile1193Thr)	LRPPRC (I1193T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 138153	NM_133259.4(LRPPRC):c.3570-3C>T	LRPPRC	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 672555	NM_133259.4(LRPPRC):c.3570-188A>T	LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1723830	NM_133259.4(LRPPRC):c.3541A>G (p.Asn1181Asp)	LRPPRC (N1181D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1701011	NM_133259.4(LRPPRC):c.3531G>A (p.Met1177Ile)	LRPPRC (M1177I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 384228	NM_133259.4(LRPPRC):c.3365-16T>C	LRPPRC	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1226786	NM_133259.4(LRPPRC):c.3365-34A>G	LRPPRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225521	NM_133259.4(LRPPRC):c.3365-206C>T	LRPPRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671284	NM_133259.4(LRPPRC):c.3365-249G>A	LRPPRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1405183	NM_133259.4(LRPPRC):c.3325C>T (p.Arg1109Cys)	LRPPRC (R1109C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 287093	NM_133259.4(LRPPRC):c.3277G>A (p.Ala1093Thr)	LRPPRC (A1093T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1207617	NM_133259.4(LRPPRC):c.3275+230T>G	LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1184777	NM_133259.4(LRPPRC):c.3275+97T>C	LRPPRC	Single nucleotide variant (intron variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type +1 more	GBenign
Select item 382109	NM_133259.4(LRPPRC):c.3275+7G>A	LRPPRC	Single nucleotide variant (intron variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type +2 more	GConflicting classifications of pathogenicity
Select item 684327	NM_133259.4(LRPPRC):c.3149-289C>T	LRPPRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 378099	NM_133259.4(LRPPRC):c.3148+14G>A	LRPPRC	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 516159	NM_133259.4(LRPPRC):c.3078G>A (p.Ser1026=)	LRPPRC	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3341033	NM_133259.4(LRPPRC):c.3044G>C (p.Trp1015Ser)	LRPPRC (W1015S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1184778	NM_133259.4(LRPPRC):c.3039+21C>A	LRPPRC	Single nucleotide variant (intron variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type +1 more	GBenign
Select item 419758	NM_133259.4(LRPPRC):c.3034C>T (p.Pro1012Ser)	LRPPRC (P1012S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 379195	NM_133259.4(LRPPRC):c.3030C>T (p.Asp1010=)	LRPPRC	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 426849	NM_133259.4(LRPPRC):c.2981G>C (p.Arg994Thr)	LRPPRC (R994T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 214616	NM_133259.4(LRPPRC):c.2966G>A (p.Arg989His)	LRPPRC (R989H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 214615	NM_133259.4(LRPPRC):c.2965C>T (p.Arg989Cys)	LRPPRC (R989C)	Single nucleotide variant (missense variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type +1 more	GConflicting classifications of pathogenicity
Select item 1196675	NM_133259.4(LRPPRC):c.2897-39A>G	LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671279	NM_133259.4(LRPPRC):c.2897-262G>A	LRPPRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 684324	NM_133259.4(LRPPRC):c.2897-300T>G	LRPPRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233898	NM_133259.4(LRPPRC):c.2896+148T>C	LRPPRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1184779	NM_133259.4(LRPPRC):c.2896+26C>T	LRPPRC	Single nucleotide variant (intron variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type +1 more	GBenign
Select item 378098	NM_133259.4(LRPPRC):c.2896+16A>G	LRPPRC	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 214623	NM_133259.4(LRPPRC):c.2861G>A (p.Arg954Lys)	LRPPRC (R954K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1707281	NM_133259.4(LRPPRC):c.2839C>A (p.Gln947Lys)	LRPPRC (Q947K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343573	NM_133259.4(LRPPRC):c.2816T>A (p.Leu939Gln)	LRPPRC (L939Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1184780	NM_133259.4(LRPPRC):c.2806-110C>A	LRPPRC	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 684322	NM_133259.4(LRPPRC):c.2806-233A>T	LRPPRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212379	NM_133259.4(LRPPRC):c.2805+124G>A	LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1291400	NM_133259.4(LRPPRC):c.2805+37G>C	LRPPRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 684321	NM_133259.4(LRPPRC):c.2737-230C>G	LRPPRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219443	NM_133259.4(LRPPRC):c.2737-232C>A	LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 218167	NM_133259.4(LRPPRC):c.2723AGA[1] (p.Lys909del)	LRPPRC (K909del)	Microsatellite (inframe_deletion)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2581759	NM_133259.4(LRPPRC):c.2651A>T (p.Glu884Val)	LRPPRC (E884V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1258039	NM_133259.4(LRPPRC):c.2630-22T>C	LRPPRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291414	NM_133259.4(LRPPRC):c.2629+30dup	LRPPRC	Duplication (intron variant)	not provided	GBenign
Select item 1200877	NM_133259.4(LRPPRC):c.2629+38del	LRPPRC	Deletion (intron variant)	not provided	GLikely benign
Select item 506869	NM_133259.4(LRPPRC):c.2629+18A>G	LRPPRC	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 509550	NM_133259.4(LRPPRC):c.2629+12T>G	LRPPRC	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 794412	NM_133259.4(LRPPRC):c.2569A>G (p.Arg857Gly)	LRPPRC (R857G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 511278	NM_133259.4(LRPPRC):c.2563T>C (p.Leu855=)	LRPPRC	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 129549	NM_133259.4(LRPPRC):c.2562A>G (p.Val854=)	LRPPRC	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 676252	NM_133259.4(LRPPRC):c.2505-149T>C	LRPPRC	Single nucleotide variant (intron variant)	not provided	GBenign

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