"Ambry Genetics"[submitter] AND "PEX7"[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2055015	NM_000288.4(PEX7):c.24G>A (p.Ala8=)	PEX7	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 9B +1 more	GLikely benign
Select item 1209595	NM_000288.4(PEX7):c.38G>A (p.Arg13Gln)	PEX7 (R13Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 447933	NM_000288.4(PEX7):c.44C>T (p.Pro15Leu)	PEX7 (P15L)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 9B +3 more	GUncertain significance
Select item 1088151	NM_000288.4(PEX7):c.60C>T (p.Tyr20=)	PEX7	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 9B +1 more	GLikely benign
Select item 498141	NM_000288.4(PEX7):c.86C>T (p.Pro29Leu)	PEX7 (P29L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 3211523	NM_000288.4(PEX7):c.94C>G (p.Leu32Val)	PEX7 (L32V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2069768	NM_000288.4(PEX7):c.107C>T (p.Thr36Ile)	PEX7 (T36I)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 9B +1 more	GUncertain significance
Select item 2059071	NM_000288.4(PEX7):c.117C>G (p.His39Gln)	PEX7 (H39Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 7788	NM_000288.4(PEX7):c.120C>G (p.Tyr40Ter)	PEX7 (Y40*)	Single nucleotide variant (nonsense)	Phytanic acid storage disease +5 more	GPathogenic
Select item 850298	NM_000288.4(PEX7):c.128C>T (p.Ala43Val)	PEX7 (A43V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1041978	NM_000288.4(PEX7):c.193G>A (p.Asp65Asn)	PEX7 (D65N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1487526	NM_000288.4(PEX7):c.195C>G (p.Asp65Glu)	PEX7 (D65E)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 9B +1 more	GUncertain significance
Select item 497448	NM_000288.4(PEX7):c.203A>T (p.Asp68Val)	PEX7 (D68V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 994433	NM_000288.4(PEX7):c.234C>A (p.Asn78Lys)	PEX7 (N78K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2201504	NM_000288.4(PEX7):c.313C>A (p.Gln105Lys)	PEX7 (Q105K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1024459	NM_000288.4(PEX7):c.331G>A (p.Ala111Thr)	PEX7 (A111T)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 9B +1 more	GConflicting classifications of pathogenicity
Select item 1929260	NM_000288.4(PEX7):c.382G>C (p.Val128Leu)	PEX7 (V90L +1 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 9B +1 more	GUncertain significance
Select item 2447781	NM_000288.4(PEX7):c.538C>A (p.Leu180Met)	PEX7 (L180M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 355532	NM_000288.4(PEX7):c.615C>T (p.Asp205=)	PEX7	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 7782	NM_000288.4(PEX7):c.649G>A (p.Gly217Arg)	PEX7 (G217R)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 9B +3 more	GPathogenic/Likely pathogenic
Select item 3211522	NM_000288.4(PEX7):c.740G>A (p.Arg247Lys)	PEX7 (R247K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3305856	NM_000288.4(PEX7):c.776C>T (p.Ala259Val)	PEX7 (A221V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1761452	NM_000288.4(PEX7):c.797C>G (p.Thr266Ser)	PEX7 (T228S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2153669	NM_000288.4(PEX7):c.800T>C (p.Val267Ala)	PEX7 (V267A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 597528	NM_000288.4(PEX7):c.867T>C (p.Thr289=)	PEX7	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 9B +2 more	GConflicting classifications of pathogenicity
Select item 2163495	NM_000288.4(PEX7):c.903+5C>T	PEX7	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 355536	NM_000288.4(PEX7):c.941A>G (p.Tyr314Cys)	PEX7 (Y314C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1370514	NM_000288.4(PEX7):c.946C>T (p.Pro316Ser)	PEX7 (P316S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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Items: 28