PEX11A[gene] and "single gene"[properties] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2323169	NM_003847.3(PEX11A):c.739C>T (p.Arg247Cys)	PEX11A (R216C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518857	NM_003847.3(PEX11A):c.723G>C (p.Gln241His)	PEX11A (Q96H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606541	NM_003847.3(PEX11A):c.718C>A (p.Pro240Thr)	PEX11A (P95T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206608	NM_003847.3(PEX11A):c.691A>G (p.Ile231Val)	PEX11A (I200V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3211489	NM_003847.3(PEX11A):c.665T>C (p.Ile222Thr)	PEX11A (I222T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250150	NM_003847.3(PEX11A):c.658G>C (p.Gly220Arg)	PEX11A (G189R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354682	NM_003847.3(PEX11A):c.613A>C (p.Ile205Leu)	PEX11A (I174L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288330	NM_003847.3(PEX11A):c.611A>C (p.Asp204Ala)	PEX11A (D204A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484031	NM_003847.3(PEX11A):c.514G>A (p.Glu172Lys)	PEX11A (E27K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211488	NM_003847.3(PEX11A):c.513G>C (p.Glu171Asp)	PEX11A (E140D +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2645696	NM_003847.3(PEX11A):c.480A>T (p.Ala160=)	PEX11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2251382	NM_003847.3(PEX11A):c.473A>T (p.Lys158Ile)	PEX11A (K13I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391500	NM_003847.3(PEX11A):c.458G>C (p.Arg153Thr)	PEX11A (R122T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399725	NM_003847.3(PEX11A):c.437T>G (p.Met146Arg)	PEX11A (M115R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211487	NM_003847.3(PEX11A):c.415C>G (p.Leu139Val)	PEX11A (L108V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2645697	NM_003847.3(PEX11A):c.394C>G (p.Leu132Val)	PEX11A (L101V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2459370	NM_003847.3(PEX11A):c.359G>A (p.Arg120Gln)	PEX11A (R120Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236747	NM_003847.3(PEX11A):c.322G>A (p.Val108Ile)	PEX11A (V108I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342958	NM_003847.3(PEX11A):c.247C>T (p.Arg83Cys)	PEX11A (R83C)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2272162	NM_003847.3(PEX11A):c.237C>A (p.Asp79Glu)	PEX11A (D79E)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2468068	NM_003847.3(PEX11A):c.224T>C (p.Ile75Thr)	PEX11A (I75T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2610355	NM_003847.3(PEX11A):c.206A>G (p.Gln69Arg)	PEX11A (Q69R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2483095	NM_003847.3(PEX11A):c.167G>A (p.Arg56His)	PEX11A (R56H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291531	NM_003847.3(PEX11A):c.152G>A (p.Ser51Asn)	PEX11A (S51N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465224	NM_003847.3(PEX11A):c.128T>C (p.Met43Thr)	PEX11A (M43T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211486	NM_003847.3(PEX11A):c.114A>T (p.Lys38Asn)	PEX11A (K38N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372825	NM_003847.3(PEX11A):c.76A>G (p.Met26Val)	PEX11A (M26V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 27