"Ambry Genetics"[submitter] AND "PEX12"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3211499	NM_000286.3(PEX12):c.1005T>A (p.Ser335Arg)	PEX12 (S335R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 837474	NM_000286.3(PEX12):c.997G>T (p.Val333Leu)	PEX12 (V333L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 196246	NM_000286.3(PEX12):c.931C>T (p.Arg311Trp)	PEX12 (R311W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 848033	NM_000286.3(PEX12):c.905C>T (p.Thr302Ile)	PEX12 (T302I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1042952	NM_000286.3(PEX12):c.903G>C (p.Lys301Asn)	PEX12 (K301N)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 3A (Zellweger) +1 more	GUncertain significance
Select item 92776	NM_000286.3(PEX12):c.888_889del (p.Leu297fs)	PEX12 (L297fs)	Microsatellite (frameshift variant)	not provided +4 more	GPathogenic
Select item 2140478	NM_000286.3(PEX12):c.872A>C (p.Asn291Thr)	PEX12 (N291T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2140066	NM_000286.3(PEX12):c.857T>C (p.Val286Ala)	PEX12 (V286A)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 3A (Zellweger) +1 more	GUncertain significance
Select item 2527523	NM_000286.3(PEX12):c.845C>T (p.Pro282Leu)	PEX12 (P282L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 502684	NM_000286.3(PEX12):c.737C>A (p.Ser246Tyr)	PEX12 (S246Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 1449336	NM_000286.3(PEX12):c.724G>A (p.Gly242Ser)	PEX12 (G242S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3211501	NM_000286.3(PEX12):c.622A>G (p.Ile208Val)	PEX12 (I208V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 285542	NM_000286.3(PEX12):c.452G>A (p.Arg151His)	PEX12 (R151H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 92774	NM_000286.3(PEX12):c.451C>T (p.Arg151Cys)	PEX12 (R151C)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 3211500	NM_000286.3(PEX12):c.416A>G (p.Glu139Gly)	PEX12 (E139G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 500516	NM_000286.3(PEX12):c.352A>G (p.Met118Val)	PEX12 (M118V)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 864735	NM_000286.3(PEX12):c.306A>T (p.Arg102Ser)	PEX12 (R102S)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 3A (Zellweger) +1 more	GUncertain significance
Select item 998967	NM_000286.3(PEX12):c.263G>C (p.Gly88Ala)	PEX12 (G88A)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 3A (Zellweger) +1 more	GUncertain significance
Select item 2608844	NM_000286.3(PEX12):c.211C>A (p.Gln71Lys)	PEX12 (Q71K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1472880	NM_000286.3(PEX12):c.73G>C (p.Ala25Pro)	PEX12 (A25P)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 3A (Zellweger) +1 more	GUncertain significance
Select item 322655	NM_000286.3(PEX12):c.41C>A (p.Ala14Asp)	PEX12 (A14D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2557133	NM_000286.3(PEX12):c.21C>G (p.His7Gln)	PEX12 (H7Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 22