Related gene-specific medical variations for Gene (Select 5192) - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247775	NC_000001.10:g.(?_2337205)_(2341910_?)del	PEX10	Deletion	Peroxisome biogenesis disorder, complementation group 7	GPathogenic
Select item 3247774	NC_000001.10:g.(?_2343810)_(2343941_?)del	PEX10	Deletion	Peroxisome biogenesis disorder, complementation group 7	GPathogenic
Select item 3240083	NM_002617.4(PEX10):c.663_664del (p.Val222fs)	PEX10 (V222fs +4 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GLikely pathogenic
Select item 3240082	NM_002617.4(PEX10):c.913-1G>A	PEX10	Single nucleotide variant (splice acceptor variant)	Peroxisome biogenesis disorder 6A (Zellweger)	GLikely pathogenic
Select item 3240081	NM_002617.4(PEX10):c.882G>A (p.Trp294Ter)	PEX10 (W150* +4 more)	Single nucleotide variant (nonsense +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GLikely pathogenic
Select item 2690668	NM_002617.4(PEX10):c.193+2_193+27delinsCCTCACCACACTTGCAGGTGTG	PEX10	Indel (splice donor variant)	not provided	GLikely pathogenic
Select item 2690667	NM_002617.4(PEX10):c.193+2T>C	PEX10	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2677661	NM_002617.4(PEX10):c.424_425dup (p.Arg143fs)	PEX10 (R143fs)	Microsatellite (frameshift variant +2 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GLikely pathogenic
Select item 2677659	NM_002617.4(PEX10):c.247_251del (p.Arg83fs)	PEX10 (R83fs)	Deletion (frameshift variant +2 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GLikely pathogenic
Select item 2677658	NM_002617.4(PEX10):c.600C>G (p.Tyr200Ter)	PEX10 (Y200* +1 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 6A (Zellweger)	GLikely pathogenic
Select item 2677657	NM_002617.4(PEX10):c.592del (p.Ile198fs)	PEX10 (I198fs +1 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GLikely pathogenic
Select item 2677656	NM_002617.4(PEX10):c.777-1G>A	PEX10	Single nucleotide variant (splice acceptor variant)	Peroxisome biogenesis disorder 6A (Zellweger)	GLikely pathogenic
Select item 2677654	NM_002617.4(PEX10):c.844_848del (p.His282fs)	PEX10 (H138fs +4 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GLikely pathogenic
Select item 2677653	NM_002617.4(PEX10):c.346_363delinsTGGGCCCCTG (p.Glu116fs)	PEX10 (E116fs)	Indel (frameshift variant +2 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GLikely pathogenic
Select item 2677652	NM_002617.4(PEX10):c.200A>G (p.Gln67Arg)	PEX10 (Q67R)	Single nucleotide variant (missense variant +2 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GLikely pathogenic
Select item 2677651	NM_002617.4(PEX10):c.125G>A (p.Trp42Ter)	PEX10 (W42*)	Single nucleotide variant (nonsense +2 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GLikely pathogenic
Select item 2677649	NM_002617.4(PEX10):c.881G>A (p.Trp294Ter)	PEX10 (W150* +4 more)	Single nucleotide variant (nonsense +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GPathogenic
Select item 2677648	NM_002617.4(PEX10):c.142dup (p.Glu48fs)	PEX10 (E48fs)	Duplication (frameshift variant +2 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GLikely pathogenic
Select item 2677647	NM_002617.4(PEX10):c.601-18dup	PEX10 (A214fs +2 more)	Duplication (frameshift variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GLikely pathogenic
Select item 2677646	NM_002617.4(PEX10):c.813_814del (p.Leu272fs)	PEX10 (L128fs +4 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GLikely pathogenic
Select item 2434652	NM_002617.4(PEX10):c.*3C>T	PEX10	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 991791	NM_002617.4(PEX10):c.81C>G (p.Ser27Arg)	PEX10 (S27R)	Single nucleotide variant (missense variant +1 more)	Zellweger spectrum disorders	GUncertain significance
Select item 876386	NM_002617.4(PEX10):c.*905A>C	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 876385	NM_002617.4(PEX10):c.*951G>C	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 875398	NM_002617.4(PEX10):c.*401A>C	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 875345	NM_002617.4(PEX10):c.*445G>A	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 875344	NM_002617.4(PEX10):c.*595G>A	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 875343	NM_002617.4(PEX10):c.*643C>T	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 875342	NM_002617.4(PEX10):c.*676C>T	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GLikely benign
Select item 875341	NM_002617.4(PEX10):c.*686C>G	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 874434	NM_002617.4(PEX10):c.*824G>A	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 296265	NM_002617.4(PEX10):c.*352G>A	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GBenign
Select item 296264	NM_002617.4(PEX10):c.*410G>A	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 296263	NM_002617.4(PEX10):c.*420G>A	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 296262	NM_002617.4(PEX10):c.*499G>A	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 296261	NM_002617.4(PEX10):c.*594C>T	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 296260	NM_002617.4(PEX10):c.*627C>T	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 296259	NM_002617.4(PEX10):c.*688G>T	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 296258	NM_002617.4(PEX10):c.*732G>A	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 296257	NM_002617.4(PEX10):c.*744dup	PEX10, RER1	Duplication (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 1A (Zellweger)	GUncertain significance
Select item 296256	NM_002617.4(PEX10):c.*782C>A	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 296255	NM_002617.4(PEX10):c.*798C>T	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 296254	NM_002617.4(PEX10):c.*835C>T	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 296253	NM_002617.4(PEX10):c.*838C>T	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 296252	NM_002617.4(PEX10):c.*854G>A	PEX10, RER1	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GUncertain significance
Select item 6775	NM_002617.4:c.13_28delinsCCGCCAGCACCTGCGCCGCC	PEX10	Indel	Peroxisome biogenesis disorder 6A (Zellweger)	GPathogenic

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Items: 46