"Ambry Genetics"[submitter] AND "ARHGEF15"[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2381846	NM_173728.4(ARHGEF15):c.16C>T (p.Leu6Phe)	ARHGEF15 (L6F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1448992	NM_173728.4(ARHGEF15):c.38C>T (p.Thr13Met)	ARHGEF15 (T13M)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 2211218	NM_173728.4(ARHGEF15):c.65C>T (p.Pro22Leu)	ARHGEF15 (P22L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1398988	NM_173728.4(ARHGEF15):c.83C>T (p.Ser28Phe)	ARHGEF15 (S28F)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GUncertain significance
Select item 2533845	NM_173728.4(ARHGEF15):c.100C>G (p.Pro34Ala)	ARHGEF15 (P34A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 696441	NM_173728.4(ARHGEF15):c.178C>G (p.Pro60Ala)	ARHGEF15 (P60A)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 575505	NM_173728.4(ARHGEF15):c.194C>T (p.Pro65Leu)	ARHGEF15 (P65L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2489080	NM_173728.4(ARHGEF15):c.253C>T (p.Leu85Phe)	ARHGEF15 (L85F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 403967	NM_173728.4(ARHGEF15):c.266C>A (p.Thr89Asn)	ARHGEF15 (T89N)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1016071	NM_173728.4(ARHGEF15):c.313C>T (p.Arg105Trp)	ARHGEF15 (R105W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 434299	NM_173728.4(ARHGEF15):c.316C>T (p.Arg106Cys)	ARHGEF15 (R106C)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GUncertain significance
Select item 412676	NM_173728.4(ARHGEF15):c.322G>A (p.Ala108Thr)	ARHGEF15 (A108T)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GConflicting classifications of pathogenicity
Select item 1057508	NM_173728.4(ARHGEF15):c.388C>G (p.Pro130Ala)	ARHGEF15 (P130A)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 651273	NM_173728.4(ARHGEF15):c.406G>A (p.Gly136Arg)	ARHGEF15 (G136R)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 855186	NM_173728.4(ARHGEF15):c.415G>A (p.Ala139Thr)	ARHGEF15 (A139T)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 3129081	NM_173728.4(ARHGEF15):c.436G>A (p.Ala146Thr)	ARHGEF15 (A146T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129082	NM_173728.4(ARHGEF15):c.437C>A (p.Ala146Asp)	ARHGEF15 (A146D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129083	NM_173728.4(ARHGEF15):c.440C>G (p.Pro147Arg)	ARHGEF15 (P147R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 961906	NM_173728.4(ARHGEF15):c.452G>A (p.Arg151Gln)	ARHGEF15 (R151Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3129084	NM_173728.4(ARHGEF15):c.474A>C (p.Glu158Asp)	ARHGEF15 (E158D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 403971	NM_173728.4(ARHGEF15):c.491G>A (p.Arg164Gln)	ARHGEF15 (R164Q)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 3129085	NM_173728.4(ARHGEF15):c.530C>A (p.Ala177Glu)	ARHGEF15 (A177E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129086	NM_173728.4(ARHGEF15):c.542T>G (p.Val181Gly)	ARHGEF15 (V181G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 696113	NM_173728.4(ARHGEF15):c.652C>T (p.Arg218Trp)	ARHGEF15 (R218W)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 939199	NM_173728.4(ARHGEF15):c.736A>G (p.Thr246Ala)	ARHGEF15 (T246A)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 956960	NM_173728.4(ARHGEF15):c.754C>G (p.His252Asp)	ARHGEF15 (H252D)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 3129087	NM_173728.4(ARHGEF15):c.766A>G (p.Ile256Val)	ARHGEF15 (I256V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1503939	NM_173728.4(ARHGEF15):c.781G>A (p.Val261Ile)	ARHGEF15 (V261I)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 2204703	NM_173728.4(ARHGEF15):c.799C>T (p.Arg267Cys)	ARHGEF15 (R267C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1024316	NM_173728.4(ARHGEF15):c.806C>T (p.Thr269Ile)	ARHGEF15 (T269I)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 2304726	NM_173728.4(ARHGEF15):c.832C>T (p.Leu278Phe)	ARHGEF15 (L278F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313071	NM_173728.4(ARHGEF15):c.844A>C (p.Lys282Gln)	ARHGEF15 (K282Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129088	NM_173728.4(ARHGEF15):c.864G>T (p.Gln288His)	ARHGEF15 (Q288H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 461425	NM_173728.4(ARHGEF15):c.1045G>C (p.Asp349His)	ARHGEF15 (D349H)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 3313047	NM_173728.4(ARHGEF15):c.1120C>G (p.Pro374Ala)	ARHGEF15 (P374A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288547	NM_173728.4(ARHGEF15):c.1126C>A (p.Pro376Thr)	ARHGEF15 (P376T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313054	NM_173728.4(ARHGEF15):c.1215C>G (p.Ser405Arg)	ARHGEF15 (S405R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 663912	NM_173728.4(ARHGEF15):c.1249C>A (p.Arg417Ser)	ARHGEF15 (R417S)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 2557845	NM_173728.4(ARHGEF15):c.1349G>A (p.Arg450Gln)	ARHGEF15 (R450Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 954732	NM_173728.4(ARHGEF15):c.1366C>T (p.Arg456Cys)	ARHGEF15 (R456C)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 412680	NM_173728.4(ARHGEF15):c.1411G>A (p.Val471Ile)	ARHGEF15 (V471I)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 644747	NM_173728.4(ARHGEF15):c.1559C>G (p.Thr520Ser)	ARHGEF15 (T520S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1388112	NM_173728.4(ARHGEF15):c.1675C>G (p.Arg559Gly)	ARHGEF15 (R559G)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1009152	NM_173728.4(ARHGEF15):c.1738C>T (p.Arg580Cys)	ARHGEF15 (R580C)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 1420221	NM_173728.4(ARHGEF15):c.1811G>A (p.Arg604His)	ARHGEF15 (R604H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3129078	NM_173728.4(ARHGEF15):c.1816A>C (p.Lys606Gln)	ARHGEF15 (K606Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486293	NM_173728.4(ARHGEF15):c.1832T>G (p.Leu611Arg)	ARHGEF15 (L611R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313115	NM_173728.4(ARHGEF15):c.1838G>A (p.Arg613Gln)	ARHGEF15 (R613Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606469	NM_173728.4(ARHGEF15):c.1918G>C (p.Glu640Gln)	ARHGEF15 (E640Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1513654	NM_173728.4(ARHGEF15):c.1945G>T (p.Gly649Trp)	ARHGEF15 (G649W)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 841347	NM_173728.4(ARHGEF15):c.1945G>A (p.Gly649Arg)	ARHGEF15 (G649R)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 3129079	NM_173728.4(ARHGEF15):c.1946G>A (p.Gly649Glu)	ARHGEF15 (G649E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532342	NM_173728.4(ARHGEF15):c.2006A>G (p.Asp669Gly)	ARHGEF15 (D669G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207883	NM_173728.4(ARHGEF15):c.2041C>T (p.Arg681Trp)	ARHGEF15 (R681W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 646683	NM_173728.4(ARHGEF15):c.2042G>A (p.Arg681Gln)	ARHGEF15 (R681Q)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 2395749	NM_173728.4(ARHGEF15):c.2153G>A (p.Arg718His)	ARHGEF15 (R718H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3129080	NM_173728.4(ARHGEF15):c.2300C>T (p.Ser767Phe)	ARHGEF15 (S767F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313104	NM_173728.4(ARHGEF15):c.2375G>C (p.Gly792Ala)	ARHGEF15 (G792A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 530410	NM_173728.4(ARHGEF15):c.2393C>A (p.Pro798His)	ARHGEF15 (P798H)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 862029	NM_173728.4(ARHGEF15):c.2438A>C (p.His813Pro)	ARHGEF15 (H813P)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1395404	NM_173728.4(ARHGEF15):c.2519C>G (p.Pro840Arg)	ARHGEF15 (P840R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance

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Items: 61