C3553948[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 296272	NM_002617.4(PEX10):c.977G>A (p.Arg326His)	PEX10 (R346H +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7 +2 more	GUncertain significance
Select item 286808	NM_002617.4(PEX10):c.838C>T (p.Arg280Cys)	PEX10 (R300C +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7 +3 more	GUncertain significance
Select item 296273	NM_002617.4(PEX10):c.814_815del (p.Leu272fs)	PEX10 (L272fs +4 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder, complementation group 7 +4 more	GPathogenic
Select item 500567	NM_002617.4(PEX10):c.740A>G (p.Lys247Arg)	PEX10 (K267R +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7 +3 more	GUncertain significance
Select item 197385	NM_002617.4(PEX10):c.712G>C (p.Gly238Arg)	PEX10 (G258R +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger) +4 more	GConflicting classifications of pathogenicity
Select item 6770	NM_002617.4(PEX10):c.600+1G>A	PEX10	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder 6A (Zellweger) +4 more	GPathogenic
Select item 1373599	NM_002617.4(PEX10):c.485G>A (p.Arg162Gln)	PEX10 (R162Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 296280	NM_002617.4(PEX10):c.418G>C (p.Gly140Arg)	PEX10 (G140R)	Single nucleotide variant (missense variant +2 more)	Peroxisome biogenesis disorder, complementation group 7 +5 more	GConflicting classifications of pathogenicity
Select item 955602	NM_002617.4(PEX10):c.338T>C (p.Leu113Pro)	PEX10 (L113P)	Single nucleotide variant (missense variant +2 more)	Peroxisome biogenesis disorder, complementation group 7 +2 more	GUncertain significance
Select item 296283	NM_002617.4(PEX10):c.275G>A (p.Arg92His)	PEX10 (R92H)	Single nucleotide variant (non-coding transcript variant +2 more)	Peroxisome biogenesis disorder 6A (Zellweger) +4 more	GUncertain significance