"Ambry Genetics"[submitter] AND "PEX19"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 597301	NM_002857.4(PEX19):c.878G>C (p.Gly293Ala)	PEX19 (G293A +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger) +2 more	GUncertain significance
Select item 597440	NM_002857.4(PEX19):c.856T>G (p.Ser286Ala)	PEX19 (S286A)	Single nucleotide variant (missense variant +2 more)	Peroxisome biogenesis disorder 12A (Zellweger) +2 more	GUncertain significance
Select item 3211507	NM_002857.4(PEX19):c.800A>T (p.Glu267Val)	PEX19 (E267V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 225039	NM_002857.4(PEX19):c.775C>T (p.Gln259Ter)	PEX19 (Q259*)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GPathogenic
Select item 860421	NM_002857.4(PEX19):c.667A>G (p.Ser223Gly)	PEX19 (S223G)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger) +1 more	GConflicting classifications of pathogenicity
Select item 3211506	NM_002857.4(PEX19):c.578A>G (p.Lys193Arg)	PEX19 (K193R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3305845	NM_002857.4(PEX19):c.531T>A (p.Ser177Arg)	PEX19 (S177R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2108022	NM_002857.4(PEX19):c.474G>C (p.Glu158Asp)	PEX19 (E158D)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger) +1 more	GUncertain significance
Select item 1438085	NM_002857.4(PEX19):c.365A>G (p.Gln122Arg)	PEX19 (Q122R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2477905	NM_002857.4(PEX19):c.158G>A (p.Arg53Lys)	PEX19 (R53K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 499937	NM_002857.4(PEX19):c.115C>T (p.Pro39Ser)	PEX19 (P39S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1056613	NM_002857.4(PEX19):c.88G>A (p.Asp30Asn)	PEX19 (D30N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 859368	NM_002857.4(PEX19):c.40G>C (p.Ala14Pro)	PEX19 (A14P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2161614	NM_002857.4(PEX19):c.13G>A (p.Glu5Lys)	PEX19 (E5K)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger) +1 more	GUncertain significance