"Myriad Genetics, Inc."[submitter] AND "LRPPRC"[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1724466	NM_133259.4(LRPPRC):c.3957del (p.Ala1320fs)	LRPPRC (A1320fs)	Deletion (frameshift variant)	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 1723911	NM_133259.4(LRPPRC):c.3778_3780delinsT (p.Gln1260fs)	LRPPRC (Q1260fs)	Indel (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 1725814	NM_133259.4(LRPPRC):c.3778_3779del (p.Gln1260fs)	LRPPRC (Q1260fs)	Deletion (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 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 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 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 1725882	NM_133259.4(LRPPRC):c.3313dup (p.Ala1105fs)	LRPPRC (A1105fs)	Duplication (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 1724209	NM_133259.4(LRPPRC):c.3261_3262del (p.Met1087fs)	LRPPRC (M1087fs)	Deletion (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 1725584	NM_133259.4(LRPPRC):c.3248_3249del (p.Phe1083fs)	LRPPRC (F1083fs)	Deletion (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 1725189	NM_133259.4(LRPPRC):c.3227T>A (p.Leu1076Ter)	LRPPRC (L1076*)	Single nucleotide variant (nonsense)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 1724220	NM_133259.4(LRPPRC):c.3156T>A (p.Tyr1052Ter)	LRPPRC (Y1052*)	Single nucleotide variant (nonsense)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 1724909	NM_133259.4(LRPPRC):c.3013del (p.Gln1005fs)	LRPPRC (Q1005fs)	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 1725107	NM_133259.4(LRPPRC):c.2889del (p.Lys963fs)	LRPPRC (K963fs)	Deletion (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 1724461	NM_133259.4(LRPPRC):c.2632dup (p.Met878fs)	LRPPRC (M878fs)	Duplication (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 1724777	NM_133259.4(LRPPRC):c.2444del (p.Leu815fs)	LRPPRC (L815fs)	Deletion (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 1725247	NM_133259.4(LRPPRC):c.2343del (p.Asp783fs)	LRPPRC (D783fs)	Deletion (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 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 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 1724335	NM_133259.4(LRPPRC):c.1947_1948del (p.Asn650fs)	LRPPRC (N650fs)	Deletion (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 1724990	NM_133259.4(LRPPRC):c.1931T>A (p.Leu644Ter)	LRPPRC (L644*)	Single nucleotide variant (nonsense)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 1725932	NM_133259.4(LRPPRC):c.1574T>G (p.Leu525Ter)	LRPPRC (L525*)	Single nucleotide variant (nonsense)	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 1725401	NM_133259.4(LRPPRC):c.1517_1518insAAAA (p.Met506fs)	LRPPRC (M506fs)	Insertion (frameshift variant)	not provided +1 more	GPathogenic/Likely 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 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 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 1724059	NM_133259.4(LRPPRC):c.1179C>A (p.Tyr393Ter)	LRPPRC (Y393*)	Single nucleotide variant (nonsense)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 1725716	NM_133259.4(LRPPRC):c.1165A>T (p.Lys389Ter)	LRPPRC (K389*)	Single nucleotide variant (nonsense)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 1724514	NM_133259.4(LRPPRC):c.1115_1118delinsCTT (p.Phe372fs)	LRPPRC (F372fs)	Indel (frameshift variant)	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
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 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 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 1724294	NM_133259.4(LRPPRC):c.532A>T (p.Lys178Ter)	LRPPRC (K178*)	Single nucleotide variant (nonsense)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 1725094	NM_133259.4(LRPPRC):c.531T>A (p.Tyr177Ter)	LRPPRC (Y177*)	Single nucleotide variant (nonsense)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 1725103	NM_133259.4(LRPPRC):c.516T>A (p.Tyr172Ter)	LRPPRC (Y172*)	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 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 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 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 1724301	NM_133259.4(LRPPRC):c.392del (p.Gly131fs)	LRPPRC (G131fs)	Deletion (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 1725351	NM_133259.4(LRPPRC):c.376_377insAAATTATTTTTTGAATACG (p.Leu126delinsGlnIleIlePheTer)	LRPPRC	Insertion (nonsense)	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 1724966	NM_133259.4(LRPPRC):c.151G>T (p.Gly51Ter)	LRPPRC (G51*)	Single nucleotide variant (nonsense)	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 1725972	NM_133259.4(LRPPRC):c.92del (p.Pro31fs)	LRPPRC (P31fs)	Deletion (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 1725979	NM_133259.4(LRPPRC):c.31_32insATAAGAGACAG (p.Leu11fs)	LRPPRC (L11fs)	Insertion (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic

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Items: 54