"PreventionGenetics, part of Exact Sciences"[submitter] AND "PEX19"[ge - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 258820	NM_002857.4(PEX19):c.879T>C (p.Gly293=)	PEX19 (V276A)	Single nucleotide variant (missense variant +2 more)	Peroxisome biogenesis disorder 12A (Zellweger) +2 more	GBenign/Likely benign
Select item 595959	NM_002857.4(PEX19):c.857C>G (p.Ser286Trp)	PEX19 (S286W)	Single nucleotide variant (missense variant +2 more)	Peroxisome biogenesis disorder 12A (Zellweger) +2 more	GUncertain significance
Select item 3054851	NM_002857.4(PEX19):c.817-4C>T	PEX19	Single nucleotide variant (intron variant)	PEX19-related disorder	GLikely benign
Select item 3053625	NM_002857.4(PEX19):c.817-8T>G	PEX19	Single nucleotide variant (intron variant)	PEX19-related disorder	GLikely benign
Select item 282033	NM_002857.4(PEX19):c.771+3A>G	PEX19	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 498142	NM_002857.4(PEX19):c.564G>A (p.Leu188=)	PEX19	Single nucleotide variant (synonymous variant +1 more)	PEX19-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3029577	NM_002857.4(PEX19):c.546A>T (p.Leu182=)	PEX19	Single nucleotide variant (synonymous variant +1 more)	PEX19-related disorder	GLikely benign
Select item 737576	NM_002857.4(PEX19):c.504A>G (p.Glu168=)	PEX19	Single nucleotide variant (synonymous variant +1 more)	PEX19-related disorder +1 more	GLikely benign
Select item 293227	NM_002857.4(PEX19):c.498T>G (p.Asp166Glu)	PEX19 (D166E)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2628415	NM_002857.4(PEX19):c.461C>G (p.Thr154Ser)	PEX19 (T154S)	Single nucleotide variant (missense variant +1 more)	PEX19-related disorder	GUncertain significance
Select item 293228	NM_002857.4(PEX19):c.459G>A (p.Leu153=)	PEX19	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2074707	NM_002857.4(PEX19):c.446C>T (p.Ser149Leu)	PEX19 (S149L)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger) +1 more	GUncertain significance
Select item 2116269	NM_002857.4(PEX19):c.438C>T (p.Ser146=)	PEX19	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger) +1 more	GLikely benign
Select item 284050	NM_002857.4(PEX19):c.261C>T (p.Phe87=)	PEX19	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 288371	NM_002857.4(PEX19):c.255G>A (p.Ala85=)	PEX19	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger) +2 more	GConflicting classifications of pathogenicity
Select item 500081	NM_002857.4(PEX19):c.162G>A (p.Ser54=)	PEX19	Single nucleotide variant (synonymous variant +1 more)	PEX19-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3033936	NM_002857.4(PEX19):c.130G>C (p.Ala44Pro)	PEX19 (A44P)	Single nucleotide variant (missense variant +1 more)	PEX19-related disorder	GUncertain significance
Select item 499937	NM_002857.4(PEX19):c.115C>T (p.Pro39Ser)	PEX19 (P39S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1058503	NM_002857.4(PEX19):c.23G>A (p.Cys8Tyr)	PEX19 (C8Y)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger) +1 more	GUncertain significance
Select item 1006825	NM_002857.4(PEX19):c.23G>T (p.Cys8Phe)	PEX19 (C8F)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger) +1 more	GUncertain significance
Select item 3031140	NM_002857.4(PEX19):c.21C>A (p.Gly7=)	PEX19	Single nucleotide variant (synonymous variant +1 more)	PEX19-related disorder	GLikely benign

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Items: 21