C1857355[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	GUncertain significance
Select item 746339	NM_133259.4(LRPPRC):c.4078G>A (p.Ala1360Thr)	LRPPRC (A1360T)	Single nucleotide variant (missense variant)	LRPPRC-related disorder +2 more	GBenign/Likely benign
Select item 287093	NM_133259.4(LRPPRC):c.3277G>A (p.Ala1093Thr)	LRPPRC (A1093T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 214615	NM_133259.4(LRPPRC):c.2965C>T (p.Arg989Cys)	LRPPRC (R989C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 796144	NM_133259.4(LRPPRC):c.2904C>T (p.Asn968=)	LRPPRC	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 518190	NM_133259.4(LRPPRC):c.2079+10G>A	LRPPRC	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 138144	NM_133259.4(LRPPRC):c.1888C>T (p.Leu630=)	LRPPRC	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 138143	NM_133259.4(LRPPRC):c.1736-14G>A	LRPPRC	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 214587	NM_133259.4(LRPPRC):c.1678A>T (p.Ile560Leu)	LRPPRC (I560L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 214586	NM_133259.4(LRPPRC):c.1301G>A (p.Gly434Asp)	LRPPRC (G434D)	Single nucleotide variant (missense variant)	LRPPRC-related disorder +2 more	GConflicting classifications of pathogenicity
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 991300	NM_133259.4(LRPPRC):c.808T>C (p.Tyr270His)	LRPPRC (Y270H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1168958	NM_133259.4(LRPPRC):c.738-18T>C	LRPPRC	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 551305	NM_133259.4(LRPPRC):c.650+1G>C	LRPPRC	Single nucleotide variant (splice donor variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type +1 more	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 214622	NM_133259.4(LRPPRC):c.109G>T (p.Ala37Ser)	LRPPRC (A37S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 336177	NM_133259.4(LRPPRC):c.74G>A (p.Arg25His)	LRPPRC (R25H)	Single nucleotide variant (missense variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type +2 more	GConflicting classifications of pathogenicity