PEX11G[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 60234	GRCh38/hg38 19p13.2(chr19:7194917-7827432)x3	LOC130063389, LOC130063390 +75 more	Copy number gain	See cases	GUncertain significance
Select item 2308993	NM_080662.4(PEX11G):c.722C>A (p.Pro241His)	ARHGEF18, PEX11G (P180H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211498	NM_080662.4(PEX11G):c.710A>T (p.Glu237Val)	ARHGEF18, PEX11G (E167V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607951	NM_080662.4(PEX11G):c.706G>A (p.Ala236Thr)	ARHGEF18, PEX11G (A175T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569144	NM_080662.4(PEX11G):c.700G>A (p.Gly234Ser)	ARHGEF18, PEX11G (G164S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211497	NM_080662.4(PEX11G):c.697G>A (p.Gly233Ser)	ARHGEF18, PEX11G (G233S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305843	NM_080662.4(PEX11G):c.691C>G (p.Arg231Gly)	ARHGEF18, PEX11G (R161G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556932	NM_080662.4(PEX11G):c.686C>T (p.Ala229Val)	ARHGEF18, PEX11G (A159V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710139	NM_080662.4(PEX11G):c.638_639dup (p.Val214Ter)	ARHGEF18, PEX11G (V144* +1 more)	Duplication (nonsense +1 more)	not provided	GBenign
Select item 2393407	NM_080662.4(PEX11G):c.629C>T (p.Pro210Leu)	ARHGEF18, PEX11G (P140L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211496	NM_080662.4(PEX11G):c.623G>T (p.Arg208Leu)	ARHGEF18, PEX11G (R208L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622534	NM_080662.4(PEX11G):c.623G>A (p.Arg208His)	ARHGEF18, PEX11G (R208H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569115	NM_080662.4(PEX11G):c.611T>A (p.Leu204Gln)	ARHGEF18, PEX11G (L134Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354725	NM_080662.4(PEX11G):c.586G>A (p.Val196Met)	ARHGEF18, PEX11G (V126M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222191	NM_080662.4(PEX11G):c.571G>A (p.Asp191Asn)	ARHGEF18, PEX11G (D191N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569863	NM_080662.4(PEX11G):c.539C>T (p.Ser180Leu)	ARHGEF18, PEX11G (S180L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410950	NM_080662.4(PEX11G):c.536A>C (p.Gln179Pro)	ARHGEF18, PEX11G (Q109P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518853	NM_080662.4(PEX11G):c.512G>A (p.Arg171Gln)	ARHGEF18, PEX11G (R101Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211494	NM_080662.4(PEX11G):c.503G>A (p.Arg168Gln)	PEX11G, ARHGEF18 (R168Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305839	NM_080662.4(PEX11G):c.502C>T (p.Arg168Trp)	ARHGEF18, PEX11G (R168W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569889	NM_080662.4(PEX11G):c.494C>T (p.Pro165Leu)	ARHGEF18, PEX11G (P95L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409407	NM_080662.4(PEX11G):c.482C>T (p.Pro161Leu)	ARHGEF18, PEX11G (P91L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610664	NM_080662.4(PEX11G):c.479C>T (p.Ala160Val)	ARHGEF18, PEX11G (A90V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459905	NM_080662.4(PEX11G):c.467G>A (p.Arg156Gln)	ARHGEF18, PEX11G (R156Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523079	NM_080662.4(PEX11G):c.466C>T (p.Arg156Trp)	ARHGEF18, PEX11G (R156W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305841	NM_080662.4(PEX11G):c.404T>G (p.Leu135Arg)	PEX11G (L135R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211493	NM_080662.4(PEX11G):c.401C>T (p.Ala134Val)	PEX11G (A64V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270872	NM_080662.4(PEX11G):c.383T>C (p.Leu128Pro)	PEX11G (L128P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305835	NM_080662.4(PEX11G):c.371G>A (p.Arg124Gln)	PEX11G (R54Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268919	NM_080662.4(PEX11G):c.370C>T (p.Arg124Trp)	PEX11G (R124W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377603	NM_080662.4(PEX11G):c.346C>T (p.Arg116Trp)	PEX11G (R116W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211492	NM_080662.4(PEX11G):c.334G>A (p.Ala112Thr)	PEX11G (A42T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305838	NM_080662.4(PEX11G):c.320A>T (p.Glu107Val)	PEX11G (E37V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356303	NM_080662.4(PEX11G):c.302A>G (p.Gln101Arg)	PEX11G (Q101R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649159	NM_080662.4(PEX11G):c.297T>C (p.Ala99=)	PEX11G	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3305837	NM_080662.4(PEX11G):c.258C>A (p.Asp86Glu)	PEX11G (D86E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308992	NM_080662.4(PEX11G):c.244G>C (p.Ala82Pro)	PEX11G (A82P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376656	NM_080662.4(PEX11G):c.226A>G (p.Lys76Glu)	PEX11G (K6E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305836	NM_080662.4(PEX11G):c.201T>A (p.Asp67Glu)	PEX11G (D67E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570435	NM_080662.4(PEX11G):c.193C>T (p.Leu65Phe)	PEX11G (L65F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588845	NM_080662.4(PEX11G):c.143G>A (p.Arg48His)	PEX11G (R48H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305840	NM_080662.4(PEX11G):c.134T>C (p.Val45Ala)	PEX11G (V45A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532293	NM_080662.4(PEX11G):c.125G>A (p.Arg42Lys)	PEX11G (R42K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405516	NM_080662.4(PEX11G):c.59T>C (p.Leu20Pro)	LOC130063373, PEX11G (L20P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389937	NM_080662.4(PEX11G):c.56G>A (p.Arg19His)	LOC130063373, PEX11G (R19H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331883	NM_080662.4(PEX11G):c.11T>C (p.Leu4Pro)	LOC130063373, PEX11G (L4P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3248423	NC_000019.9:g.(?_7504827)_(7712696_?)del	ARHGEF18, CAMSAP3 +9 more	Deletion	Mucolipidosis type IV	GPathogenic
Select item 3242628	NC_000019.9:g.(?_5691310)_(8008536_?)dup	ACER1, ACSBG2 +65 more	Duplication	not provided	GUncertain significance
Select item 2426564	NC_000019.9:g.(?_6361586)_(8212364_?)del	CRB3, CTXN1 +51 more	Deletion	Mucolipidosis type IV	GPathogenic
Select item 2423795	NC_000019.9:g.(?_7527018)_(7624057_?)dup	ZNF358, SAXO5 +4 more	Duplication	Hereditary spastic paraplegia 39	GUncertain significance
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 54