ARHGEF17[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58916	GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1	LOC130006424, LOC130006425 +305 more	Copy number loss	See cases	GPathogenic
Select item 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 2642134	NM_014786.4(ARHGEF17):c.24C>G (p.Pro8=)	ARHGEF17, ARHGEF17-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3129148	NM_014786.4(ARHGEF17):c.44C>T (p.Ser15Leu)	ARHGEF17, ARHGEF17-AS1 (S15L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3313354	NM_014786.4(ARHGEF17):c.50A>C (p.Lys17Thr)	ARHGEF17, ARHGEF17-AS1 (K17T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2353140	NM_014786.4(ARHGEF17):c.95A>G (p.Asp32Gly)	ARHGEF17, ARHGEF17-AS1 (D32G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2527268	NM_014786.4(ARHGEF17):c.121C>T (p.Arg41Cys)	ARHGEF17, ARHGEF17-AS1 (R41C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2391105	NM_014786.4(ARHGEF17):c.130T>A (p.Cys44Ser)	ARHGEF17, ARHGEF17-AS1 (C44S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3129123	NM_014786.4(ARHGEF17):c.200C>A (p.Ala67Asp)	ARHGEF17, ARHGEF17-AS1 (A67D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2299670	NM_014786.4(ARHGEF17):c.202G>A (p.Ala68Thr)	ARHGEF17, ARHGEF17-AS1 (A68T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3129126	NM_014786.4(ARHGEF17):c.214C>T (p.Pro72Ser)	ARHGEF17, ARHGEF17-AS1 (P72S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2594880	NM_014786.4(ARHGEF17):c.232C>T (p.Leu78Phe)	ARHGEF17, ARHGEF17-AS1 (L78F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3129129	NM_014786.4(ARHGEF17):c.239C>T (p.Pro80Leu)	ARHGEF17, ARHGEF17-AS1 (P80L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3129130	NM_014786.4(ARHGEF17):c.260G>A (p.Arg87Gln)	ARHGEF17, ARHGEF17-AS1 (R87Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3313261	NM_014786.4(ARHGEF17):c.296C>T (p.Ala99Val)	ARHGEF17, ARHGEF17-AS1 (A99V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3313272	NM_014786.4(ARHGEF17):c.340G>T (p.Ala114Ser)	ARHGEF17, ARHGEF17-AS1 (A114S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3313282	NM_014786.4(ARHGEF17):c.341C>A (p.Ala114Glu)	ARHGEF17, ARHGEF17-AS1 (A114E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2483706	NM_014786.4(ARHGEF17):c.373A>C (p.Ser125Arg)	ARHGEF17, ARHGEF17-AS1 (S125R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2276077	NM_014786.4(ARHGEF17):c.417G>C (p.Arg139Ser)	ARHGEF17, ARHGEF17-AS1 (R139S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2340321	NM_014786.4(ARHGEF17):c.455G>A (p.Ser152Asn)	ARHGEF17, ARHGEF17-AS1 (S152N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2605240	NM_014786.4(ARHGEF17):c.478C>A (p.Pro160Thr)	ARHGEF17, ARHGEF17-AS1 (P160T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2591543	NM_014786.4(ARHGEF17):c.484G>C (p.Ala162Pro)	ARHGEF17, ARHGEF17-AS1 (A162P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2642135	NM_014786.4(ARHGEF17):c.525A>C (p.Thr175=)	ARHGEF17, ARHGEF17-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3129155	NM_014786.4(ARHGEF17):c.538G>A (p.Ala180Thr)	ARHGEF17, ARHGEF17-AS1 (A180T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3313196	NM_014786.4(ARHGEF17):c.588G>C (p.Arg196Ser)	ARHGEF17, ARHGEF17-AS1 (R196S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3313314	NM_014786.4(ARHGEF17):c.616C>T (p.Arg206Trp)	ARHGEF17, ARHGEF17-AS1 (R206W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2525812	NM_014786.4(ARHGEF17):c.660C>G (p.Phe220Leu)	ARHGEF17, ARHGEF17-AS1 (F220L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3129161	NM_014786.4(ARHGEF17):c.676G>A (p.Gly226Arg)	ARHGEF17, ARHGEF17-AS1 (G226R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2305299	NM_014786.4(ARHGEF17):c.709G>A (p.Ala237Thr)	ARHGEF17, ARHGEF17-AS1 (A237T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 779306	NM_014786.4(ARHGEF17):c.716C>A (p.Ser239Tyr)	ARHGEF17, ARHGEF17-AS1 (S239Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2340567	NM_014786.4(ARHGEF17):c.835G>A (p.Asp279Asn)	ARHGEF17 (D279N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344219	NM_014786.4(ARHGEF17):c.919A>T (p.Arg307Trp)	ARHGEF17 (R307W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403862	NM_014786.4(ARHGEF17):c.997C>G (p.Pro333Ala)	ARHGEF17 (P333A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508370	NM_014786.4(ARHGEF17):c.1003G>T (p.Ala335Ser)	ARHGEF17 (A335S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390632	NM_014786.4(ARHGEF17):c.1003G>A (p.Ala335Thr)	ARHGEF17 (A335T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313364	NM_014786.4(ARHGEF17):c.1042T>C (p.Ser348Pro)	ARHGEF17 (S348P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129112	NM_014786.4(ARHGEF17):c.1043C>T (p.Ser348Phe)	ARHGEF17 (S348F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313215	NM_014786.4(ARHGEF17):c.1054G>A (p.Val352Ile)	ARHGEF17 (V352I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604302	NM_014786.4(ARHGEF17):c.1099G>A (p.Gly367Arg)	ARHGEF17 (G367R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129113	NM_014786.4(ARHGEF17):c.1123G>C (p.Val375Leu)	ARHGEF17 (V375L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313240	NM_014786.4(ARHGEF17):c.1127G>A (p.Ser376Asn)	ARHGEF17 (S376N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129115	NM_014786.4(ARHGEF17):c.1136C>T (p.Ser379Leu)	ARHGEF17 (S379L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554791	NM_014786.4(ARHGEF17):c.1153G>T (p.Ala385Ser)	ARHGEF17 (A385S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129116	NM_014786.4(ARHGEF17):c.1157G>A (p.Gly386Asp)	ARHGEF17 (G386D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313371	NM_014786.4(ARHGEF17):c.1162C>G (p.Arg388Gly)	ARHGEF17 (R388G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256853	NM_014786.4(ARHGEF17):c.1162C>T (p.Arg388Cys)	ARHGEF17 (R388C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2342841	NM_014786.4(ARHGEF17):c.1170C>A (p.Ser390Arg)	ARHGEF17 (S390R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313218	NM_014786.4(ARHGEF17):c.1229C>G (p.Ser410Cys)	ARHGEF17 (S410C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251043	NM_014786.4(ARHGEF17):c.1229C>T (p.Ser410Phe)	ARHGEF17 (S410F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613128	NM_014786.4(ARHGEF17):c.1250G>A (p.Arg417His)	ARHGEF17 (R417H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129117	NM_014786.4(ARHGEF17):c.1368T>G (p.Ser456Arg)	ARHGEF17 (S456R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254006	NM_014786.4(ARHGEF17):c.1384C>G (p.Leu462Val)	ARHGEF17 (L462V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544772	NM_014786.4(ARHGEF17):c.1392T>G (p.Asn464Lys)	ARHGEF17 (N464K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238421	NM_014786.4(ARHGEF17):c.1400T>C (p.Ile467Thr)	ARHGEF17 (I467T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455250	NM_014786.4(ARHGEF17):c.1403C>T (p.Ala468Val)	ARHGEF17 (A468V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313380	NM_014786.4(ARHGEF17):c.1448C>T (p.Ser483Leu)	ARHGEF17 (S483L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489856	NM_014786.4(ARHGEF17):c.1534G>A (p.Gly512Ser)	ARHGEF17 (G512S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220041	NM_014786.4(ARHGEF17):c.1624C>T (p.Arg542Trp)	ARHGEF17 (R542W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258989	NM_014786.4(ARHGEF17):c.1643C>T (p.Thr548Ile)	ARHGEF17 (T548I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255062	NM_014786.4(ARHGEF17):c.1646G>C (p.Cys549Ser)	ARHGEF17 (C549S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406932	NM_014786.4(ARHGEF17):c.1655A>G (p.Lys552Arg)	ARHGEF17 (K552R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367018	NM_014786.4(ARHGEF17):c.1660A>G (p.Met554Val)	ARHGEF17 (M554V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3129119	NM_014786.4(ARHGEF17):c.1669C>T (p.Arg557Cys)	ARHGEF17 (R557C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313207	NM_014786.4(ARHGEF17):c.1675C>G (p.Pro559Ala)	ARHGEF17 (P559A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608766	NM_014786.4(ARHGEF17):c.1679G>A (p.Arg560His)	ARHGEF17 (R560H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129120	NM_014786.4(ARHGEF17):c.1684A>G (p.Ser562Gly)	ARHGEF17 (S562G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3129121	NM_014786.4(ARHGEF17):c.1733C>T (p.Ala578Val)	ARHGEF17 (A578V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642136	NM_014786.4(ARHGEF17):c.1735G>C (p.Glu579Gln)	ARHGEF17 (E579Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3313235	NM_014786.4(ARHGEF17):c.1759G>A (p.Val587Ile)	ARHGEF17 (V587I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351808	NM_014786.4(ARHGEF17):c.1811G>A (p.Arg604His)	ARHGEF17 (R604H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2494148	NM_014786.4(ARHGEF17):c.1891C>T (p.Arg631Trp)	ARHGEF17 (R631W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204327	NM_014786.4(ARHGEF17):c.1909T>G (p.Ser637Ala)	ARHGEF17 (S637A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244273	NM_014786.4(ARHGEF17):c.1945G>C (p.Gly649Arg)	ARHGEF17 (G649R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129122	NM_014786.4(ARHGEF17):c.1946G>A (p.Gly649Glu)	ARHGEF17 (G649E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129124	NM_014786.4(ARHGEF17):c.2071G>A (p.Gly691Arg)	ARHGEF17 (G691R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129125	NM_014786.4(ARHGEF17):c.2087C>T (p.Ser696Leu)	ARHGEF17 (S696L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346677	NM_014786.4(ARHGEF17):c.2119C>T (p.Arg707Cys)	ARHGEF17 (R707C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611923	NM_014786.4(ARHGEF17):c.2180C>G (p.Ala727Gly)	ARHGEF17 (A727G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513270	NM_014786.4(ARHGEF17):c.2183G>C (p.Gly728Ala)	ARHGEF17 (G728A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129127	NM_014786.4(ARHGEF17):c.2221C>T (p.Arg741Cys)	ARHGEF17 (R741C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313216	NM_014786.4(ARHGEF17):c.2294C>T (p.Pro765Leu)	ARHGEF17 (P765L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354754	NM_014786.4(ARHGEF17):c.2333G>T (p.Gly778Val)	ARHGEF17 (G778V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129128	NM_014786.4(ARHGEF17):c.2395G>T (p.Val799Phe)	ARHGEF17 (V799F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403045	NM_014786.4(ARHGEF17):c.2446G>A (p.Asp816Asn)	ARHGEF17 (D816N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391813	NM_014786.4(ARHGEF17):c.2497C>T (p.Arg833Cys)	ARHGEF17 (R833C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591401	NM_014786.4(ARHGEF17):c.2609G>A (p.Arg870Gln)	ARHGEF17 (R870Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2251768	NM_014786.4(ARHGEF17):c.2630G>A (p.Gly877Asp)	ARHGEF17 (G877D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642137	NM_014786.4(ARHGEF17):c.2679G>A (p.Leu893=)	ARHGEF17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3129131	NM_014786.4(ARHGEF17):c.2687C>T (p.Pro896Leu)	ARHGEF17 (P896L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129132	NM_014786.4(ARHGEF17):c.2706C>G (p.Asn902Lys)	ARHGEF17 (N902K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351014	NM_014786.4(ARHGEF17):c.2755C>T (p.Arg919Cys)	ARHGEF17 (R919C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622007	NM_014786.4(ARHGEF17):c.2759G>A (p.Arg920Gln)	ARHGEF17 (R920Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321715	NM_014786.4(ARHGEF17):c.2804G>A (p.Arg935Gln)	ARHGEF17 (R935Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3129134	NM_014786.4(ARHGEF17):c.2812G>A (p.Glu938Lys)	ARHGEF17 (E938K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313293	NM_014786.4(ARHGEF17):c.2816G>A (p.Gly939Asp)	ARHGEF17 (G939D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206730	NM_014786.4(ARHGEF17):c.2846G>A (p.Arg949Gln)	ARHGEF17 (R949Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2593970	NM_014786.4(ARHGEF17):c.2852G>A (p.Arg951Gln)	ARHGEF17 (R951Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379656	NM_014786.4(ARHGEF17):c.2872C>T (p.Arg958Cys)	ARHGEF17 (R958C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262240	NM_014786.4(ARHGEF17):c.2930C>G (p.Ser977Cys)	ARHGEF17 (S977C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129135	NM_014786.4(ARHGEF17):c.2972C>T (p.Pro991Leu)	ARHGEF17 (P991L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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