Related gene-specific medical variations for Gene (Select 5193) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3240086	NM_000286.3(PEX12):c.301_302del (p.Gln101fs)	PEX12 (Q101fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely pathogenic
Select item 3240085	NM_000286.3(PEX12):c.220dup (p.Tyr74fs)	PEX12 (Y74fs)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely pathogenic
Select item 3240084	NM_000286.3(PEX12):c.4_5del (p.Met1_Ala2insTer)	PEX12	Deletion (nonsense)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely pathogenic
Select item 2677665	NM_000286.3(PEX12):c.329dup (p.Gln111fs)	PEX12 (Q111fs)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely pathogenic
Select item 2677664	NM_000286.3(PEX12):c.876_877insTT (p.Asp293fs)	PEX12 (D293fs)	Insertion (frameshift variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely pathogenic
Select item 2677662	NM_000286.3(PEX12):c.363del (p.Leu122fs)	PEX12 (L122fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely pathogenic
Select item 1319465	NM_000286.3(PEX12):c.853C>T (p.Pro285Ser)	PEX12 (P285S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1252073	NM_000286.3(PEX12):c.308dup (p.Leu103fs)	PEX12 (L103fs)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GPathogenic
Select item 931779	NM_000286.3(PEX12):c.571C>A (p.Pro191Thr)	PEX12 (P191T)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder type 3B	GUncertain significance
Select item 591836	NM_000286.3(PEX12):c.535del (p.Leu179fs)	PEX12 (L179fs)	Deletion (frameshift variant)	not provided	GUncertain significance