ClinVar for Gene (Select 9828) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3313391	NM_014786.4(ARHGEF17):c.6039G>C (p.Trp2013Cys)	ARHGEF17 (W2013C)	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 3313371	NM_014786.4(ARHGEF17):c.1162C>G (p.Arg388Gly)	ARHGEF17 (R388G)	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 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 3313344	NM_014786.4(ARHGEF17):c.3071C>T (p.Pro1024Leu)	ARHGEF17 (P1024L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313334	NM_014786.4(ARHGEF17):c.4373C>T (p.Ala1458Val)	ARHGEF17 (A1458V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313324	NM_014786.4(ARHGEF17):c.5282A>G (p.Asp1761Gly)	ARHGEF17 (D1761G)	Single nucleotide variant (missense variant)	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 3313303	NM_014786.4(ARHGEF17):c.4526G>A (p.Cys1509Tyr)	LOC121392928, ARHGEF17 (C1509Y)	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 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 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 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 3313250	NM_014786.4(ARHGEF17):c.4862C>T (p.Pro1621Leu)	ARHGEF17 (P1621L)	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 3313235	NM_014786.4(ARHGEF17):c.1759G>A (p.Val587Ile)	ARHGEF17 (V587I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313227	NM_014786.4(ARHGEF17):c.4815G>T (p.Gln1605His)	ARHGEF17, LOC121392928 (Q1605H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313222	NM_014786.4(ARHGEF17):c.4865G>T (p.Gly1622Val)	ARHGEF17 (G1622V)	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 3313216	NM_014786.4(ARHGEF17):c.2294C>T (p.Pro765Leu)	ARHGEF17 (P765L)	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 3313207	NM_014786.4(ARHGEF17):c.1675C>G (p.Pro559Ala)	ARHGEF17 (P559A)	Single nucleotide variant (missense variant)	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 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 3129160	NM_014786.4(ARHGEF17):c.6120T>A (p.Ser2040Arg)	ARHGEF17 (S2040R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129159	NM_014786.4(ARHGEF17):c.6005A>T (p.Lys2002Met)	ARHGEF17 (K2002M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129158	NM_014786.4(ARHGEF17):c.5975C>T (p.Pro1992Leu)	ARHGEF17 (P1992L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129157	NM_014786.4(ARHGEF17):c.5755G>A (p.Ala1919Thr)	ARHGEF17 (A1919T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129156	NM_014786.4(ARHGEF17):c.5513G>A (p.Arg1838Gln)	ARHGEF17 (R1838Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3129154	NM_014786.4(ARHGEF17):c.5189T>C (p.Leu1730Pro)	ARHGEF17 (L1730P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129153	NM_014786.4(ARHGEF17):c.5175C>A (p.Ser1725Arg)	ARHGEF17 (S1725R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129152	NM_014786.4(ARHGEF17):c.5009C>T (p.Pro1670Leu)	ARHGEF17 (P1670L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129151	NM_014786.4(ARHGEF17):c.4867C>G (p.Leu1623Val)	ARHGEF17 (L1623V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129150	NM_014786.4(ARHGEF17):c.4780G>A (p.Glu1594Lys)	ARHGEF17, LOC121392928 (E1594K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129149	NM_014786.4(ARHGEF17):c.4567G>C (p.Gly1523Arg)	ARHGEF17, LOC121392928 (G1523R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3129147	NM_014786.4(ARHGEF17):c.4376G>A (p.Arg1459His)	ARHGEF17 (R1459H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129146	NM_014786.4(ARHGEF17):c.4365C>G (p.His1455Gln)	ARHGEF17 (H1455Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129143	NM_014786.4(ARHGEF17):c.4015A>G (p.Ser1339Gly)	ARHGEF17 (S1339G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129142	NM_014786.4(ARHGEF17):c.3859C>T (p.Arg1287Trp)	ARHGEF17 (R1287W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129141	NM_014786.4(ARHGEF17):c.3745G>A (p.Glu1249Lys)	ARHGEF17 (E1249K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129139	NM_014786.4(ARHGEF17):c.3307G>A (p.Val1103Met)	ARHGEF17 (V1103M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129138	NM_014786.4(ARHGEF17):c.3303C>G (p.Asn1101Lys)	ARHGEF17 (N1101K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129137	NM_014786.4(ARHGEF17):c.3197T>C (p.Met1066Thr)	ARHGEF17 (M1066T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129136	NM_014786.4(ARHGEF17):c.3010G>A (p.Glu1004Lys)	ARHGEF17 (E1004K)	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
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 3129132	NM_014786.4(ARHGEF17):c.2706C>G (p.Asn902Lys)	ARHGEF17 (N902K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 3129128	NM_014786.4(ARHGEF17):c.2395G>T (p.Val799Phe)	ARHGEF17 (V799F)	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 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 3129125	NM_014786.4(ARHGEF17):c.2087C>T (p.Ser696Leu)	ARHGEF17 (S696L)	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 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 3129122	NM_014786.4(ARHGEF17):c.1946G>A (p.Gly649Glu)	ARHGEF17 (G649E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3129120	NM_014786.4(ARHGEF17):c.1684A>G (p.Ser562Gly)	ARHGEF17 (S562G)	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 3129117	NM_014786.4(ARHGEF17):c.1368T>G (p.Ser456Arg)	ARHGEF17 (S456R)	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 3129115	NM_014786.4(ARHGEF17):c.1136C>T (p.Ser379Leu)	ARHGEF17 (S379L)	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 3129112	NM_014786.4(ARHGEF17):c.1043C>T (p.Ser348Phe)	ARHGEF17 (S348F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685411	GRCh37/hg19 11q13.4(chr11:72308632-74236530)x1	ARAP1, ARAP1-AS2 +25 more	Copy number loss	not provided	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2642140	NM_014786.4(ARHGEF17):c.6150T>C (p.Gly2050=)	ARHGEF17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642139	NM_014786.4(ARHGEF17):c.3252G>A (p.Ser1084=)	ARHGEF17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642138	NM_014786.4(ARHGEF17):c.3006G>A (p.Ser1002=)	ARHGEF17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642137	NM_014786.4(ARHGEF17):c.2679G>A (p.Leu893=)	ARHGEF17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2642134	NM_014786.4(ARHGEF17):c.24C>G (p.Pro8=)	ARHGEF17, ARHGEF17-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2623223	NM_014786.4(ARHGEF17):c.3581G>A (p.Arg1194His)	ARHGEF17 (R1194H)	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 2613128	NM_014786.4(ARHGEF17):c.1250G>A (p.Arg417His)	ARHGEF17 (R417H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612265	NM_014786.4(ARHGEF17):c.4798G>C (p.Ala1600Pro)	ARHGEF17, LOC121392928 (A1600P)	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 2608766	NM_014786.4(ARHGEF17):c.1679G>A (p.Arg560His)	ARHGEF17 (R560H)	Single nucleotide variant (missense variant)	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 2604302	NM_014786.4(ARHGEF17):c.1099G>A (p.Gly367Arg)	ARHGEF17 (G367R)	Single nucleotide variant (missense variant)	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 2594052	NM_014786.4(ARHGEF17):c.5660A>G (p.His1887Arg)	ARHGEF17 (H1887R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2592004	NM_014786.4(ARHGEF17):c.3724C>T (p.Arg1242Trp)	ARHGEF17 (R1242W)	Single nucleotide variant (missense variant)	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 2591401	NM_014786.4(ARHGEF17):c.2609G>A (p.Arg870Gln)	ARHGEF17 (R870Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2590465	NM_014786.4(ARHGEF17):c.3145G>A (p.Ala1049Thr)	ARHGEF17 (A1049T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557752	NM_014786.4(ARHGEF17):c.5696T>C (p.Val1899Ala)	ARHGEF17 (V1899A)	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 2553246	NM_014786.4(ARHGEF17):c.4870G>C (p.Gly1624Arg)	ARHGEF17 (G1624R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548085	NM_014786.4(ARHGEF17):c.5870G>A (p.Arg1957Gln)	ARHGEF17 (R1957Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547918	NM_014786.4(ARHGEF17):c.4342T>C (p.Ser1448Pro)	ARHGEF17 (S1448P)	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 2544539	NM_014786.4(ARHGEF17):c.3896C>T (p.Ala1299Val)	ARHGEF17 (A1299V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542135	NM_014786.4(ARHGEF17):c.5219C>G (p.Ser1740Cys)	ARHGEF17 (S1740C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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