"Counsyl"[submitter] AND "LRPPRC"[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 550769	NM_133259.4(LRPPRC):c.4178_4182dup (p.Ter1395LeuextTer?)	LRPPRC	Duplication (frameshift variant +1 more)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 551420	NM_133259.4(LRPPRC):c.4128+2T>G	LRPPRC	Single nucleotide variant (splice donor variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 553013	NM_133259.4(LRPPRC):c.4128dup (p.Glu1377Ter)	LRPPRC (E1377*)	Duplication (nonsense)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
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 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 550076	NM_133259.4(LRPPRC):c.3986-11_3986-8dup	LRPPRC	Duplication (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 336145	NM_133259.4(LRPPRC):c.3901-6T>G	LRPPRC	Single nucleotide variant (intron variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 554317	NM_133259.4(LRPPRC):c.3861GTT[2] (p.Leu1289del)	LRPPRC (L1289del)	Microsatellite (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 556705	NM_133259.4(LRPPRC):c.3673_3676del (p.Lys1224_Val1225insTer)	LRPPRC	Deletion (nonsense)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
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 336150	NM_133259.4(LRPPRC):c.3430C>T (p.Arg1144Cys)	LRPPRC (R1144C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 550318	NM_133259.4(LRPPRC):c.3148+12C>T	LRPPRC	Single nucleotide variant (intron variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type +1 more	GConflicting classifications of pathogenicity
Select item 556521	NM_133259.4(LRPPRC):c.3148+2C>T	LRPPRC	Single nucleotide variant (splice donor variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type +1 more	GUncertain significance
Select item 555745	NM_133259.4(LRPPRC):c.3045G>A (p.Trp1015Ter)	LRPPRC (W1015*)	Single nucleotide variant (nonsense)	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 552754	NM_133259.4(LRPPRC):c.2984T>G (p.Leu995Ter)	LRPPRC (L995*)	Single nucleotide variant (nonsense)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
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 557004	NM_133259.4(LRPPRC):c.2755C>T (p.Arg919Ter)	LRPPRC (R919*)	Single nucleotide variant (nonsense)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type +1 more	GPathogenic/Likely pathogenic
Select item 550034	NM_133259.4(LRPPRC):c.2741C>A (p.Pro914Gln)	LRPPRC (P914Q)	Single nucleotide variant (missense variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type +1 more	GUncertain significance
Select item 552155	NM_133259.4(LRPPRC):c.2737-1G>T	LRPPRC	Single nucleotide variant (splice acceptor variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 556122	NM_133259.4(LRPPRC):c.2736+1G>T	LRPPRC	Single nucleotide variant (splice donor 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 557326	NM_133259.4(LRPPRC):c.2505-1G>T	LRPPRC	Single nucleotide variant (splice acceptor variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 553690	NM_133259.4(LRPPRC):c.2450T>A (p.Leu817Ter)	LRPPRC (L817*)	Single nucleotide variant (nonsense)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 336153	NM_133259.4(LRPPRC):c.2385C>T (p.Gly795=)	LRPPRC	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 557499	NM_133259.4(LRPPRC):c.2296+1G>A	LRPPRC	Single nucleotide variant (splice donor variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 556269	NM_133259.4(LRPPRC):c.2080-1G>C	LRPPRC	Single nucleotide variant (splice acceptor variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 553475	NM_133259.4(LRPPRC):c.1970_1971del (p.Val657fs)	LRPPRC (V657fs)	Microsatellite (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 555551	NM_133259.4(LRPPRC):c.1935_1937del (p.Leu645_Val646delinsPhe)	LRPPRC	Deletion (inframe_indel)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
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 550238	NM_133259.4(LRPPRC):c.1880G>A (p.Arg627His)	LRPPRC (R627H)	Single nucleotide variant (missense variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type +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 336157	NM_133259.4(LRPPRC):c.1863T>G (p.Asn621Lys)	LRPPRC (N621K)	Single nucleotide variant (missense variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 552272	NM_133259.4(LRPPRC):c.1842+2T>A	LRPPRC	Single nucleotide variant (splice donor variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	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 556709	NM_133259.4(LRPPRC):c.1678-2dup	LRPPRC	Duplication (splice acceptor variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 387971	NM_133259.4(LRPPRC):c.1649+11C>T	LOC129388857, LRPPRC	Single nucleotide variant (intron variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type +2 more	GLikely benign
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 218168	NM_133259.4(LRPPRC):c.1582+7A>G	LRPPRC	Single nucleotide variant (intron variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type +1 more	GConflicting classifications of pathogenicity
Select item 553420	NM_133259.4(LRPPRC):c.1577C>A (p.Ser526Ter)	LRPPRC (S526*)	Single nucleotide variant (nonsense)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 336163	NM_133259.4(LRPPRC):c.1419T>C (p.Asp473=)	LRPPRC	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 556970	NM_133259.4(LRPPRC):c.1385del (p.Leu462fs)	LRPPRC (L462fs)	Deletion (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 336164	NM_133259.4(LRPPRC):c.1369+5G>A	LRPPRC	Single nucleotide variant (intron variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type +2 more	GUncertain significance
Select item 336165	NM_133259.4(LRPPRC):c.1343G>T (p.Gly448Val)	LRPPRC (G448V)	Single nucleotide variant (missense variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 551987	NM_133259.4(LRPPRC):c.1261+2T>C	LRPPRC	Single nucleotide variant (splice donor variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 449720	NM_133259.4(LRPPRC):c.1253A>C (p.Asn418Thr)	LRPPRC (N418T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 553580	NM_133259.4(LRPPRC):c.1201C>T (p.Gln401Ter)	LRPPRC (Q401*)	Single nucleotide variant (nonsense)	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 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 552700	NM_133259.4(LRPPRC):c.880_882del (p.Glu294del)	LRPPRC (E294del)	Deletion (inframe_deletion)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
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 550306	NM_133259.4(LRPPRC):c.601C>T (p.Gln201Ter)	LRPPRC (Q201*)	Single nucleotide variant (nonsense)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type +1 more	GPathogenic/Likely pathogenic
Select item 552158	NM_133259.4(LRPPRC):c.600C>A (p.Tyr200Ter)	LRPPRC (Y200*)	Single nucleotide variant (nonsense)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	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 214619	NM_133259.4(LRPPRC):c.587A>C (p.Asn196Thr)	LRPPRC (N196T)	Single nucleotide variant (missense variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
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 558048	NM_133259.4(LRPPRC):c.239_253del (p.Ser80_Asp84del)	LRPPRC	Deletion (inframe_deletion)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 336173	NM_133259.4(LRPPRC):c.135C>T (p.Ala45=)	LRPPRC	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 336174	NM_133259.4(LRPPRC):c.130C>G (p.Arg44Gly)	LRPPRC (R44G)	Single nucleotide variant (missense variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 336176	NM_133259.4(LRPPRC):c.96C>T (p.Gly32=)	LRPPRC	Single nucleotide variant (synonymous variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GConflicting classifications of pathogenicity
Select item 550989	NM_133259.4(LRPPRC):c.62_79dup (p.Pro21_Leu26dup)	LRPPRC	Duplication (inframe_insertion)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 557643	NM_133259.4(LRPPRC):c.3G>A (p.Met1Ile)	LRPPRC (M1I)	Single nucleotide variant (missense variant +1 more)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 556852	NM_133259.4(LRPPRC):c.2T>A (p.Met1Lys)	LRPPRC (M1K)	Single nucleotide variant (missense variant +1 more)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic

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Items: 67