C3553929[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 92776	NM_000286.3(PEX12):c.888_889del (p.Leu297fs)	PEX12 (L297fs)	Microsatellite (frameshift variant)	not provided +4 more	GPathogenic
Select item 768872	NM_000286.3(PEX12):c.867C>T (p.Asp289=)	PEX12	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 3A (Zellweger) +1 more	GBenign
Select item 890226	NM_000286.3(PEX12):c.856G>A (p.Val286Ile)	PEX12 (V286I)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 3A (Zellweger) +1 more	GUncertain significance
Select item 502684	NM_000286.3(PEX12):c.737C>A (p.Ser246Tyr)	PEX12 (S246Y)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 555548	NM_000286.3(PEX12):c.625C>T (p.Gln209Ter)	PEX12 (Q209*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder type 3B +2 more	GPathogenic/Likely pathogenic
Select item 7774	NM_000286.3(PEX12):c.538C>T (p.Arg180Ter)	PEX12 (R180*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder type 3B +2 more	GPathogenic
Select item 500516	NM_000286.3(PEX12):c.352A>G (p.Met118Val)	PEX12 (M118V)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder type 3B +3 more	GUncertain significance
Select item 371718	NM_000286.3(PEX12):c.126+1G>T	PEX12	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 92773	NM_000286.3(PEX12):c.102A>T (p.Arg34Ser)	PEX12 (R34S)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder type 3B +3 more	GBenign/Likely benign
Select item 167450	NM_000286.3(PEX12):c.-26G>A	PEX12	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GUncertain significance