Related gene-specific medical variations for Gene (Select 10128) - ClinVar

Links from Gene

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2991491	NM_133259.4(LRPPRC):c.1649+13A>G	LOC129388857, LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990582	NM_133259.4(LRPPRC):c.1596A>G (p.Thr532=)	LOC129388857, LRPPRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968343	NM_133259.4(LRPPRC):c.1649+7T>C	LOC129388857, LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2833952	NM_133259.4(LRPPRC):c.1649+10T>C	LOC129388857, LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2805998	NM_133259.4(LRPPRC):c.1611G>A (p.Leu537=)	LOC129388857, LRPPRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2779195	NM_133259.4(LRPPRC):c.1649+17A>C	LOC129388857, LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2755932	NM_133259.4(LRPPRC):c.1583-6T>C	LOC129388857, LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2689382	NM_133259.4(LRPPRC):c.3529A>C (p.Met1177Leu)	LRPPRC (M1177L)	Single nucleotide variant (missense variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	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 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 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 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 2581615	NM_133259.4(LRPPRC):c.1627A>G (p.Ser543Gly)	LOC129388857, LRPPRC (S543G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445811	NM_133259.4(LRPPRC):c.1649+4A>C	LOC129388857, LRPPRC	Single nucleotide variant (intron variant)	not specified	GUncertain significance
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	GUncertain significance
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 +1 more	GConflicting classifications of pathogenicity
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 2179705	NM_133259.4(LRPPRC):c.1607C>T (p.Ser536Leu)	LOC129388857, LRPPRC (S536L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2045070	NM_133259.4(LRPPRC):c.1617T>C (p.Ser539=)	LRPPRC, LOC129388857	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1674129	NM_133259.4(LRPPRC):c.1638A>G (p.Leu546=)	LOC129388857, LRPPRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1656963	NM_133259.4(LRPPRC):c.1608G>A (p.Ser536=)	LOC129388857, LRPPRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1520822	NM_133259.4(LRPPRC):c.1649+6A>G	LOC129388857, LRPPRC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1342390	NM_133259.4(LRPPRC):c.2179G>A (p.Val727Ile)	LRPPRC (V727I)	Single nucleotide variant (missense variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 1130829	NM_133259.4(LRPPRC):c.1649+20T>C	LOC129388857, LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1120529	NM_133259.4(LRPPRC):c.1583-4G>A	LOC129388857, LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1114454	NM_133259.4(LRPPRC):c.1602C>T (p.Pro534=)	LOC129388857, LRPPRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1112007	NM_133259.4(LRPPRC):c.1635G>T (p.Leu545=)	LOC129388857, LRPPRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 996879	NM_133259.4(LRPPRC):c.3568A>G (p.Asn1190Asp)	LRPPRC (N1190D)	Single nucleotide variant (missense variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 991303	NM_133259.4(LRPPRC):c.217A>G (p.Thr73Ala)	LRPPRC (T73A)	Single nucleotide variant (missense variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 991302	NM_133259.4(LRPPRC):c.348T>C (p.Gly116=)	LRPPRC	Single nucleotide variant (synonymous variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 991301	NM_133259.4(LRPPRC):c.676A>G (p.Lys226Glu)	LRPPRC (K226E)	Single nucleotide variant (missense variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 991299	NM_133259.4(LRPPRC):c.1299A>G (p.Glu433=)	LRPPRC	Single nucleotide variant (synonymous variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 991297	NM_133259.4(LRPPRC):c.1706G>A (p.Arg569His)	LRPPRC (R569H)	Single nucleotide variant (missense variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 991296	NM_133259.4(LRPPRC):c.1765A>T (p.Ile589Phe)	LRPPRC (I589F)	Single nucleotide variant (missense variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 991295	NM_133259.4(LRPPRC):c.1998C>T (p.Ser666=)	LRPPRC	Single nucleotide variant (synonymous variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 991294	NM_133259.4(LRPPRC):c.3673G>C (p.Val1225Leu)	LRPPRC (V1225L)	Single nucleotide variant (missense variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 991293	NM_133259.4(LRPPRC):c.3935C>G (p.Pro1312Arg)	LRPPRC (P1312R)	Single nucleotide variant (missense variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 977367	NM_133259.4(LRPPRC):c.965C>T (p.Ser322Leu)	LRPPRC (S322L)	Single nucleotide variant (missense variant)	Seizure +1 more	GUncertain significance
Select item 898508	NM_133259.4(LRPPRC):c.1623A>T (p.Arg541Ser)	LOC129388857, LRPPRC (R541S)	Single nucleotide variant (missense variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 796712	NM_133259.4(LRPPRC):c.1632A>T (p.Leu544=)	LOC129388857, LRPPRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 794185	NM_133259.4(LRPPRC):c.1609C>T (p.Leu537=)	LOC129388857, LRPPRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 752358	NM_133259.4(LRPPRC):c.1630C>T (p.Leu544=)	LOC129388857, LRPPRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 722782	NM_133259.4(LRPPRC):c.1649+8G>A	LOC129388857, LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 618708	NM_133259.4(LRPPRC):c.-4A>G	LRPPRC	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 552573	NM_133259.4(LRPPRC):c.1612C>T (p.Gln538Ter)	LOC129388857, LRPPRC (Q538*)	Single nucleotide variant (nonsense)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type +1 more	GPathogenic/Likely pathogenic
Select item 550645	NM_133259.4(LRPPRC):c.1589C>A (p.Ser530Ter)	LOC129388857, LRPPRC (S530*)	Single nucleotide variant (nonsense)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type +1 more	GPathogenic/Likely pathogenic
Select item 445510	NM_133259.4(LRPPRC):c.475G>A (p.Val159Met)	LRPPRC (V159M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 395263	GRCh37/hg19 2p21(chr2:44161858-44341408)x3	LRPPRC	Copy number gain	See cases	GUncertain significance
Select item 387971	NM_133259.4(LRPPRC):c.1649+11C>T	LOC129388857, LRPPRC	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 377272	NM_133259.4(LRPPRC):c.1390G>C (p.Gly464Arg)	LRPPRC (G464R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214618	NM_133259.4(LRPPRC):c.1649_1649+1delinsTTT	LOC129388857, LRPPRC	Indel (splice donor variant)	not provided	GPathogenic
Select item 3111	LRPPRC, 8-BP DEL, EXON 35	LRPPRC	Deletion	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GPathogenic

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Items: 93