ClinVar for Gene (Select 55701) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3314095	NM_018071.5(ARHGEF40):c.3199G>C (p.Asp1067His)	ARHGEF40 (D1067H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314085	NM_018071.5(ARHGEF40):c.4270G>C (p.Val1424Leu)	ARHGEF40 (V710L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314074	NM_018071.5(ARHGEF40):c.3194G>A (p.Gly1065Glu)	ARHGEF40 (G1065E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314066	NM_018071.5(ARHGEF40):c.535G>A (p.Ala179Thr)	ARHGEF40 (A179T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3314056	NM_018071.5(ARHGEF40):c.2954C>T (p.Pro985Leu)	ARHGEF40 (P271L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314045	NM_018071.5(ARHGEF40):c.2710G>C (p.Ala904Pro)	ARHGEF40 (A904P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314035	NM_018071.5(ARHGEF40):c.3227G>A (p.Arg1076Gln)	ARHGEF40 (R362Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314024	NM_018071.5(ARHGEF40):c.2900G>A (p.Arg967Gln)	ARHGEF40 (R967Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314013	NM_018071.5(ARHGEF40):c.1036G>A (p.Gly346Arg)	ARHGEF40 (G346R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3314002	NM_018071.5(ARHGEF40):c.2906G>A (p.Arg969Gln)	ARHGEF40 (R255Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313992	NM_018071.5(ARHGEF40):c.2929G>A (p.Gly977Arg)	ARHGEF40 (G263R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313982	NM_018071.5(ARHGEF40):c.353G>A (p.Arg118Gln)	ARHGEF40 (R118Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3313971	NM_018071.5(ARHGEF40):c.4249C>T (p.Arg1417Cys)	ARHGEF40 (R1417C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313960	NM_018071.5(ARHGEF40):c.4459C>G (p.His1487Asp)	ARHGEF40 (H1487D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244070	NC_000014.8:g.(?_20915399)_(22005055_?)dup	ANG, APEX1 +38 more	Duplication	not provided	GUncertain significance
Select item 3129363	NM_018071.5(ARHGEF40):c.919G>A (p.Gly307Ser)	ARHGEF40 (G307S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3129362	NM_018071.5(ARHGEF40):c.892C>T (p.Arg298Trp)	ARHGEF40 (R298W)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3129361	NM_018071.5(ARHGEF40):c.746C>T (p.Thr249Met)	ARHGEF40 (T249M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3129360	NM_018071.5(ARHGEF40):c.662C>T (p.Ala221Val)	ARHGEF40 (A221V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3129359	NM_018071.5(ARHGEF40):c.586C>T (p.His196Tyr)	ARHGEF40 (H196Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3129358	NM_018071.5(ARHGEF40):c.4415A>T (p.Asp1472Val)	ARHGEF40 (D710V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129357	NM_018071.5(ARHGEF40):c.4052C>T (p.Thr1351Ile)	ARHGEF40, LOC126861886 (T1351I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129356	NM_018071.5(ARHGEF40):c.3991G>A (p.Gly1331Arg)	ARHGEF40, LOC126861886 (G1331R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129355	NM_018071.5(ARHGEF40):c.376C>T (p.Pro126Ser)	ARHGEF40 (P126S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3129354	NM_018071.5(ARHGEF40):c.3358C>T (p.Arg1120Trp)	ARHGEF40 (R1120W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129352	NM_018071.5(ARHGEF40):c.3259C>G (p.Gln1087Glu)	ARHGEF40 (Q373E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129351	NM_018071.5(ARHGEF40):c.3245G>A (p.Ser1082Asn)	ARHGEF40 (S1082N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129350	NM_018071.5(ARHGEF40):c.3236G>A (p.Arg1079His)	ARHGEF40 (R1079H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129349	NM_018071.5(ARHGEF40):c.3226C>T (p.Arg1076Trp)	ARHGEF40 (R362W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129348	NM_018071.5(ARHGEF40):c.3164G>A (p.Arg1055Gln)	ARHGEF40 (R1055Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129347	NM_018071.5(ARHGEF40):c.2992C>T (p.Pro998Ser)	ARHGEF40 (P284S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129346	NM_018071.5(ARHGEF40):c.2959C>A (p.Pro987Thr)	ARHGEF40 (P987T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129343	NM_018071.5(ARHGEF40):c.2933C>G (p.Ala978Gly)	ARHGEF40 (A264G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129342	NM_018071.5(ARHGEF40):c.2768G>A (p.Arg923Gln)	ARHGEF40 (R923Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129341	NM_018071.5(ARHGEF40):c.2419T>C (p.Phe807Leu)	ARHGEF40 (F807L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129340	NM_018071.5(ARHGEF40):c.2304G>C (p.Gln768His)	ARHGEF40 (Q54H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129339	NM_018071.5(ARHGEF40):c.2002C>A (p.Pro668Thr)	ARHGEF40 (P668T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3129338	NM_018071.5(ARHGEF40):c.1939A>G (p.Asn647Asp)	ARHGEF40 (N647D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3129337	NM_018071.5(ARHGEF40):c.1897A>T (p.Thr633Ser)	ARHGEF40 (T633S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3129336	NM_018071.5(ARHGEF40):c.1865G>A (p.Arg622Gln)	ARHGEF40 (R622Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3129335	NM_018071.5(ARHGEF40):c.1558G>T (p.Val520Phe)	ARHGEF40 (V520F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3129334	NM_018071.5(ARHGEF40):c.1471C>T (p.Pro491Ser)	ARHGEF40 (P491S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3129333	NM_018071.5(ARHGEF40):c.1469G>A (p.Gly490Asp)	ARHGEF40 (G490D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3129332	NM_018071.5(ARHGEF40):c.1357G>A (p.Glu453Lys)	ARHGEF40 (E453K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 3129331	NM_018071.5(ARHGEF40):c.11A>G (p.Glu4Gly)	ARHGEF40 (E4G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2623364	NM_018071.5(ARHGEF40):c.895G>A (p.Gly299Ser)	ARHGEF40 (G299S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2616874	NM_018071.5(ARHGEF40):c.4470C>A (p.Ser1490Arg)	ARHGEF40 (S1490R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616657	NM_018071.5(ARHGEF40):c.3220A>G (p.Thr1074Ala)	ARHGEF40 (T1074A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616040	NM_018071.5(ARHGEF40):c.3460C>T (p.Arg1154Cys)	ARHGEF40 (R1154C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602515	NM_018071.5(ARHGEF40):c.4514G>A (p.Arg1505Gln)	ARHGEF40 (R1505Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600863	NM_018071.5(ARHGEF40):c.845G>A (p.Arg282His)	ARHGEF40 (R282H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2599775	NM_018071.5(ARHGEF40):c.3779G>A (p.Arg1260His)	ARHGEF40 (R546H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559392	NM_018071.5(ARHGEF40):c.1837G>T (p.Asp613Tyr)	ARHGEF40 (D613Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2558651	NM_018071.5(ARHGEF40):c.3970A>G (p.Met1324Val)	ARHGEF40, LOC126861886 (M610V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550160	NM_018071.5(ARHGEF40):c.2063A>G (p.Gln688Arg)	ARHGEF40 (Q688R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2542928	NM_018071.5(ARHGEF40):c.3841A>G (p.Ile1281Val)	ARHGEF40, LOC126861886 (I1281V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541688	NM_018071.5(ARHGEF40):c.413A>G (p.Asn138Ser)	ARHGEF40 (N138S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2527660	NM_018071.5(ARHGEF40):c.2150A>G (p.Lys717Arg)	ARHGEF40 (K3R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523941	NM_018071.5(ARHGEF40):c.2902C>T (p.Arg968Trp)	ARHGEF40 (R254W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523497	NM_018071.5(ARHGEF40):c.2911G>C (p.Asp971His)	ARHGEF40 (D257H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515311	NM_018071.5(ARHGEF40):c.2716C>G (p.Leu906Val)	ARHGEF40 (L192V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493122	NM_018071.5(ARHGEF40):c.820C>T (p.Arg274Cys)	ARHGEF40 (R274C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2465469	NM_018071.5(ARHGEF40):c.1616C>T (p.Thr539Met)	ARHGEF40 (T539M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2462358	NM_018071.5(ARHGEF40):c.1118G>A (p.Arg373Gln)	ARHGEF40 (R373Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2457737	NM_018071.5(ARHGEF40):c.3428G>A (p.Arg1143Gln)	ARHGEF40 (R1143Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456119	NM_018071.5(ARHGEF40):c.2292G>T (p.Glu764Asp)	ARHGEF40 (E50D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422759	NC_000014.8:g.(?_20915399)_(22005055_?)del	METTL3, ANG +38 more	Deletion	Purine-nucleoside phosphorylase deficiency	GPathogenic
Select item 2411347	NM_018071.5(ARHGEF40):c.3934A>G (p.Met1312Val)	ARHGEF40, LOC126861886 (M1312V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405433	NM_018071.5(ARHGEF40):c.2831G>A (p.Arg944His)	ARHGEF40 (R230H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401477	NM_018071.5(ARHGEF40):c.3791T>C (p.Ile1264Thr)	ARHGEF40, LOC126861886 (I1264T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2400785	NM_018071.5(ARHGEF40):c.4316C>T (p.Pro1439Leu)	ARHGEF40 (P725L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399032	NM_018071.5(ARHGEF40):c.4291G>A (p.Gly1431Ser)	ARHGEF40 (G1431S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396842	NM_018071.5(ARHGEF40):c.1664C>T (p.Pro555Leu)	ARHGEF40 (P555L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2392031	NM_018071.5(ARHGEF40):c.1694G>A (p.Arg565Gln)	ARHGEF40 (R565Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2391826	NM_018071.5(ARHGEF40):c.3746G>A (p.Arg1249His)	ARHGEF40 (R1249H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383638	NM_018071.5(ARHGEF40):c.2474G>A (p.Arg825His)	ARHGEF40 (R825H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378421	NM_018071.5(ARHGEF40):c.3923G>C (p.Gly1308Ala)	ARHGEF40, LOC126861886 (G1308A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375215	NM_018071.5(ARHGEF40):c.2360G>A (p.Arg787Gln)	ARHGEF40 (R787Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370470	NM_018071.5(ARHGEF40):c.3581T>C (p.Met1194Thr)	ARHGEF40 (M1194T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2364865	NM_018071.5(ARHGEF40):c.4148T>C (p.Val1383Ala)	ARHGEF40 (V1383A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360814	NM_018071.5(ARHGEF40):c.4250G>A (p.Arg1417His)	ARHGEF40 (R1417H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2334509	NM_018071.5(ARHGEF40):c.536C>T (p.Ala179Val)	ARHGEF40 (A179V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2332132	NM_018071.5(ARHGEF40):c.1885G>C (p.Asp629His)	ARHGEF40 (D629H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2330123	NM_018071.5(ARHGEF40):c.4196T>C (p.Ile1399Thr)	ARHGEF40 (I685T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329541	NM_018071.5(ARHGEF40):c.4307G>T (p.Gly1436Val)	ARHGEF40 (G1436V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328700	NM_018071.5(ARHGEF40):c.3819G>C (p.Leu1273Phe)	ARHGEF40, LOC126861886 (L1273F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320420	NM_018071.5(ARHGEF40):c.2516G>C (p.Arg839Pro)	ARHGEF40 (R839P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314048	NM_018071.5(ARHGEF40):c.1115C>T (p.Pro372Leu)	ARHGEF40 (P372L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2313216	NM_018071.5(ARHGEF40):c.1723C>A (p.Leu575Ile)	ARHGEF40 (L575I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2310830	NM_018071.5(ARHGEF40):c.3319C>T (p.Pro1107Ser)	ARHGEF40 (P1107S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307970	NM_018071.5(ARHGEF40):c.2672G>A (p.Arg891Gln)	ARHGEF40 (R177Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296197	NM_018071.5(ARHGEF40):c.4390C>T (p.Pro1464Ser)	ARHGEF40 (P1464S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290616	NM_018071.5(ARHGEF40):c.3389G>A (p.Arg1130Gln)	ARHGEF40 (R416Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277554	NM_018071.5(ARHGEF40):c.2054G>A (p.Arg685His)	ARHGEF40 (R685H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2277277	NM_018071.5(ARHGEF40):c.2948G>A (p.Arg983His)	ARHGEF40 (R983H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2274428	NM_018071.5(ARHGEF40):c.481C>T (p.Arg161Cys)	ARHGEF40 (R161C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2269133	NM_018071.5(ARHGEF40):c.4031G>A (p.Arg1344Gln)	ARHGEF40, LOC126861886 (R1344Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268673	NM_018071.5(ARHGEF40):c.2587C>G (p.Gln863Glu)	ARHGEF40 (Q149E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268056	NM_018071.5(ARHGEF40):c.1337A>G (p.Lys446Arg)	ARHGEF40 (K446R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance

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