Related gene-specific medical variations for Gene (Select 92960) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2622534	NM_080662.4(PEX11G):c.623G>A (p.Arg208His)	ARHGEF18, PEX11G (R208H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2610664	NM_080662.4(PEX11G):c.479C>T (p.Ala160Val)	ARHGEF18, PEX11G (A90V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607951	NM_080662.4(PEX11G):c.706G>A (p.Ala236Thr)	ARHGEF18, PEX11G (A175T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2569144	NM_080662.4(PEX11G):c.700G>A (p.Gly234Ser)	ARHGEF18, PEX11G (G164S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2556932	NM_080662.4(PEX11G):c.686C>T (p.Ala229Val)	ARHGEF18, PEX11G (A159V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523079	NM_080662.4(PEX11G):c.466C>T (p.Arg156Trp)	ARHGEF18, PEX11G (R156W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2459905	NM_080662.4(PEX11G):c.467G>A (p.Arg156Gln)	ARHGEF18, PEX11G (R156Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2409407	NM_080662.4(PEX11G):c.482C>T (p.Pro161Leu)	ARHGEF18, PEX11G (P91L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405516	NM_080662.4(PEX11G):c.59T>C (p.Leu20Pro)	LOC130063373, PEX11G (L20P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2393407	NM_080662.4(PEX11G):c.629C>T (p.Pro210Leu)	PEX11G, ARHGEF18 (P140L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2389937	NM_080662.4(PEX11G):c.56G>A (p.Arg19His)	LOC130063373, PEX11G (R19H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2331883	NM_080662.4(PEX11G):c.11T>C (p.Leu4Pro)	LOC130063373, PEX11G (L4P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2308993	NM_080662.4(PEX11G):c.722C>A (p.Pro241His)	PEX11G, ARHGEF18 (P180H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	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

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Items: 21