CN031873[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 410311	NM_002047.4(GARS1):c.262C>G (p.Gln88Glu)	GARS1 (Q88E +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 410310	NM_002047.4(GARS1):c.1186G>A (p.Val396Ile)	GARS1 (V396I +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +3 more	GUncertain significance
Select item 566241	NM_001122955.4(BSCL2):c.1298C>T (p.Ala433Val)	BSCL2, HNRNPUL2-BSCL2 (A369V +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Hereditary spastic paraplegia +5 more	GUncertain significance
Select item 128532	NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro)	BSCL2, HNRNPUL2-BSCL2 (L427P +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Hereditary spastic paraplegia +10 more	GConflicting classifications of pathogenicity
Select item 567989	NM_001122955.4(BSCL2):c.1202G>A (p.Gly401Glu)	BSCL2, HNRNPUL2-BSCL2 (G337E +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease type 2 +6 more	GUncertain significance
Select item 879799	NM_001122955.4(BSCL2):c.986G>A (p.Arg329Gln)	BSCL2, HNRNPUL2-BSCL2 (R265Q +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Congenital generalized lipodystrophy type 2 +5 more	GUncertain significance
Select item 305183	NM_001122955.4(BSCL2):c.133G>A (p.Gly45Ser)	BSCL2, HNRNPUL2-BSCL2 (G45S)	Single nucleotide variant (non-coding transcript variant +2 more)	Congenital generalized lipodystrophy type 2 +6 more	GBenign/Likely benign
Select item 223153	NM_018129.4(PNPO):c.674G>A (p.Arg225His)	PNPO (R225H)	Single nucleotide variant (missense variant)	Pyridoxal phosphate-responsive seizures +2 more	GPathogenic