"Ambry Genetics"[submitter] AND "ARHGEF18"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2478959	NM_001367823.1(ARHGEF18):c.968-295A>C	ARHGEF18	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2621343	NM_001367823.1(ARHGEF18):c.968-281G>C	ARHGEF18	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1057785	NM_001367823.1(ARHGEF18):c.968-271G>T	ARHGEF18	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2320767	NM_001367823.1(ARHGEF18):c.968-195C>G	ARHGEF18 (P16R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2278807	NM_001367823.1(ARHGEF18):c.968-143G>C	ARHGEF18 (E33D)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3129172	NM_001367823.1(ARHGEF18):c.968-139G>A	ARHGEF18 (V35I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1052315	NM_001367823.1(ARHGEF18):c.968-127A>G	ARHGEF18 (N39D)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2483748	NM_001367823.1(ARHGEF18):c.968-88C>A	ARHGEF18 (P52T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2352875	NM_001367823.1(ARHGEF18):c.968-84A>C	ARHGEF18 (Q53P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2352876	NM_001367823.1(ARHGEF18):c.968-83G>T	ARHGEF18 (Q53H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 939165	NM_001367823.1(ARHGEF18):c.968-75G>A	ARHGEF18 (R56Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 863449	NM_001367823.1(ARHGEF18):c.1076C>T (p.Pro359Leu)	ARHGEF18 (P359L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3129176	NM_001367823.1(ARHGEF18):c.1097C>T (p.Thr366Met)	ARHGEF18 (T20M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 712860	NM_001367823.1(ARHGEF18):c.1105G>A (p.Gly369Arg)	ARHGEF18 (G23R +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1404891	NM_001367823.1(ARHGEF18):c.1142C>T (p.Ala381Val)	ARHGEF18 (A139V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2331492	NM_001367823.1(ARHGEF18):c.1187C>T (p.Thr396Ile)	ARHGEF18 (T154I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 707993	NM_001367823.1(ARHGEF18):c.1222C>T (p.Pro408Ser)	ARHGEF18 (P166S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2418479	NM_001367823.1(ARHGEF18):c.1231G>A (p.Ala411Thr)	ARHGEF18 (A169T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 954933	NM_001367823.1(ARHGEF18):c.1261G>A (p.Gly421Ser)	ARHGEF18 (G75S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2564791	NM_001367823.1(ARHGEF18):c.1267G>A (p.Glu423Lys)	ARHGEF18 (E423K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 850825	NM_001367823.1(ARHGEF18):c.1391G>A (p.Arg464Gln)	ARHGEF18 (R464Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2488251	NM_001367823.1(ARHGEF18):c.1454G>A (p.Ser485Asn)	ARHGEF18 (S139N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1942053	NM_001367823.1(ARHGEF18):c.1468C>T (p.Arg490Cys)	ARHGEF18 (R248C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 814002	NM_001367823.1(ARHGEF18):c.1469G>T (p.Arg490Leu)	ARHGEF18 (R490L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2325587	NM_001367823.1(ARHGEF18):c.1506C>A (p.His502Gln)	ARHGEF18 (H156Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3129177	NM_001367823.1(ARHGEF18):c.1523G>C (p.Arg508Pro)	ARHGEF18 (R508P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219946	NM_001367823.1(ARHGEF18):c.1538G>A (p.Arg513His)	ARHGEF18 (R167H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 866260	NM_001367823.1(ARHGEF18):c.1603G>A (p.Val535Ile)	ARHGEF18 (V189I +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3129162	NM_001367823.1(ARHGEF18):c.1665T>A (p.Ser555Arg)	ARHGEF18 (S313R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1360192	NM_001367823.1(ARHGEF18):c.1707G>T (p.Gln569His)	ARHGEF18 (Q327H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1064043	NM_001367823.1(ARHGEF18):c.1763G>A (p.Arg588Gln)	ARHGEF18 (R242Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1955220	NM_001367823.1(ARHGEF18):c.1765C>T (p.Arg589Trp)	ARHGEF18 (R243W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 860525	NM_001367823.1(ARHGEF18):c.1834C>T (p.Arg612Cys)	ARHGEF18 (R266C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1017573	NM_001367823.1(ARHGEF18):c.1835G>A (p.Arg612His)	ARHGEF18 (R266H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 837872	NM_001367823.1(ARHGEF18):c.1840A>C (p.Ile614Leu)	ARHGEF18 (I614L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 961700	NM_001367823.1(ARHGEF18):c.1900A>G (p.Ile634Val)	ARHGEF18 (I288V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2207586	NM_001367823.1(ARHGEF18):c.1927G>A (p.Ala643Thr)	ARHGEF18 (A643T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3129164	NM_001367823.1(ARHGEF18):c.1964G>A (p.Arg655Lys)	ARHGEF18 (R309K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3129166	NM_001367823.1(ARHGEF18):c.1966G>A (p.Glu656Lys)	ARHGEF18 (E310K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250268	NM_001367823.1(ARHGEF18):c.2051A>G (p.Gln684Arg)	ARHGEF18 (Q442R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 861339	NM_001367823.1(ARHGEF18):c.2087C>T (p.Thr696Ile)	ARHGEF18 (T350I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1523756	NM_001367823.1(ARHGEF18):c.2167G>A (p.Val723Ile)	ARHGEF18 (V723I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3129167	NM_001367823.1(ARHGEF18):c.2303C>T (p.Thr768Met)	ARHGEF18 (T422M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1346627	NM_001367823.1(ARHGEF18):c.2326G>A (p.Ala776Thr)	ARHGEF18 (A430T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2484296	NM_001367823.1(ARHGEF18):c.2344C>A (p.Gln782Lys)	ARHGEF18 (Q436K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 836413	NM_001367823.1(ARHGEF18):c.2428G>A (p.Ala810Thr)	ARHGEF18 (A810T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1041777	NM_001367823.1(ARHGEF18):c.2440C>T (p.Arg814Trp)	ARHGEF18 (R468W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2336124	NM_001367823.1(ARHGEF18):c.2476C>G (p.Leu826Val)	ARHGEF18 (L826V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 999500	NM_001367823.1(ARHGEF18):c.2602G>T (p.Gly868Trp)	ARHGEF18 (G522W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3129168	NM_001367823.1(ARHGEF18):c.2632G>A (p.Glu878Lys)	ARHGEF18 (E636K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3129169	NM_001367823.1(ARHGEF18):c.2651G>A (p.Ser884Asn)	ARHGEF18 (S884N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1002015	NM_001367823.1(ARHGEF18):c.2677G>A (p.Ala893Thr)	ARHGEF18 (A547T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 968000	NM_001367823.1(ARHGEF18):c.2690C>T (p.Ala897Val)	ARHGEF18 (A551V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 853934	NM_001367823.1(ARHGEF18):c.2698G>A (p.Gly900Arg)	ARHGEF18 (G554R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1512561	NM_001367823.1(ARHGEF18):c.2741C>T (p.Ala914Val)	ARHGEF18 (A914V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1019686	NM_001367823.1(ARHGEF18):c.2790G>T (p.Lys930Asn)	ARHGEF18 (K584N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3129170	NM_001367823.1(ARHGEF18):c.2894C>T (p.Ser965Leu)	ARHGEF18 (S723L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1165533	NM_001367823.1(ARHGEF18):c.2957C>T (p.Ser986Leu)	ARHGEF18 (S640L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2239395	NM_001367823.1(ARHGEF18):c.3031A>C (p.Ser1011Arg)	ARHGEF18 (S1011R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 970036	NM_001367823.1(ARHGEF18):c.3206G>A (p.Arg1069His)	ARHGEF18 (R1069H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3129171	NM_001367823.1(ARHGEF18):c.3215G>T (p.Arg1072Leu)	ARHGEF18 (R1072L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 842406	NM_001367823.1(ARHGEF18):c.3217G>A (p.Glu1073Lys)	ARHGEF18 (E831K +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1444659	NM_001367823.1(ARHGEF18):c.3253G>A (p.Gly1085Ser)	ARHGEF18 (G1085S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1037459	NM_001367823.1(ARHGEF18):c.3298G>A (p.Glu1100Lys)	ARHGEF18 (E858K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2535188	NM_001367823.1(ARHGEF18):c.3328G>A (p.Glu1110Lys)	ARHGEF18 (E868K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1061184	NM_001367823.1(ARHGEF18):c.3455C>T (p.Ala1152Val)	ARHGEF18 (A1152V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1954513	NM_001367823.1(ARHGEF18):c.3475G>A (p.Ala1159Thr)	ARHGEF18 (A1159T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2217945	NM_001367823.1(ARHGEF18):c.3536G>A (p.Arg1179His)	ARHGEF18 (R1179H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519092	NM_001367823.1(ARHGEF18):c.3538G>A (p.Val1180Met)	ARHGEF18 (V938M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 725169	NM_001367823.1(ARHGEF18):c.3556G>A (p.Gly1186Ser)	ARHGEF18 (G1186S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 843346	NM_001367823.1(ARHGEF18):c.3559G>C (p.Val1187Leu)	ARHGEF18 (V841L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1433283	NM_001367823.1(ARHGEF18):c.3574G>A (p.Ala1192Thr)	ARHGEF18 (A846T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 814003	NM_001367823.1(ARHGEF18):c.3580C>T (p.Arg1194Cys)	ARHGEF18 (R848C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 840201	NM_001367823.1(ARHGEF18):c.3581G>A (p.Arg1194His)	ARHGEF18 (R952H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1485158	NM_001367823.1(ARHGEF18):c.3598C>T (p.Arg1200Trp)	ARHGEF18 (R1200W +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 964100	NM_001367823.1(ARHGEF18):c.3599G>A (p.Arg1200Gln)	ARHGEF18 (R854Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2611200	NM_001367823.1(ARHGEF18):c.3742G>C (p.Asp1248His)	ARHGEF18 (D1006H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535900	NM_001367823.1(ARHGEF18):c.3788C>A (p.Ala1263Glu)	ARHGEF18 (A1021E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1038351	NM_001367823.1(ARHGEF18):c.3854G>A (p.Arg1285Gln)	ARHGEF18 (R1285Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2547824	NM_001367823.1(ARHGEF18):c.3877A>G (p.Ile1293Val)	ARHGEF18 (I1293V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 844770	NM_001367823.1(ARHGEF18):c.3886G>A (p.Gly1296Ser)	ARHGEF18 (G1054S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2295880	NM_001367823.1(ARHGEF18):c.3893A>G (p.His1298Arg)	ARHGEF18 (H1056R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2060499	NM_001367823.1(ARHGEF18):c.3916C>T (p.Pro1306Ser)	ARHGEF18 (P960S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2649158	NM_001367823.1(ARHGEF18):c.3932C>T (p.Pro1311Leu)	ARHGEF18 (P1069L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2226704	NM_001367823.1(ARHGEF18):c.3934A>C (p.Ser1312Arg)	ARHGEF18 (S1070R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3129174	NM_001367823.1(ARHGEF18):c.3953G>A (p.Ser1318Asn)	ARHGEF18 (S972N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392225	NM_001367823.1(ARHGEF18):c.3986G>T (p.Gly1329Val)	ARHGEF18 (G1329V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1442720	NM_001367823.1(ARHGEF18):c.3992C>G (p.Ala1331Gly)	ARHGEF18 (A1331G +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3129175	NM_001367823.1(ARHGEF18):c.4045G>A (p.Ala1349Thr)	ARHGEF18 (A1107T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 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

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