ARHGEF40[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57743	GRCh38/hg38 14q11.2(chr14:19755249-22741281)x1	ABHD4, ANG +312 more	Copy number loss	See cases	GPathogenic
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 59933	GRCh38/hg38 14q11.2(chr14:20127290-21376436)x3	ANG, APEX1 +119 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 57246	GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3	ABHD4, ACIN1 +399 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	LOC124958010, LOC124958011 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 57746	GRCh38/hg38 14q11.2(chr14:20475357-21613255)x1	ANG, ARHGEF40 +108 more	Copy number loss	See cases	GPathogenic
Select item 57747	GRCh38/hg38 14q11.2(chr14:20908863-21576473)x1	ARHGEF40, CHD8 +48 more	Copy number loss	See cases	GPathogenic
Select item 152232	GRCh38/hg38 14q11.2(chr14:21010790-22951814)x3	ABHD4, ARHGEF40 +242 more	Copy number gain	See cases	GUncertain significance
Select item 150080	GRCh38/hg38 14q11.2(chr14:21038933-21428431)x3	ARHGEF40, CHD8 +22 more	Copy number gain	See cases	GUncertain significance
Select item 58305	GRCh38/hg38 14q11.2(chr14:21058251-21384204)x3	ARHGEF40, HNRNPC +17 more	Copy number gain	See cases	GUncertain significance
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 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 2261108	NM_018071.5(ARHGEF40):c.400G>C (p.Val134Leu)	ARHGEF40 (V134L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
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 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 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 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 2205481	NM_018071.5(ARHGEF40):c.604C>A (p.Pro202Thr)	ARHGEF40 (P202T)	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 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 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 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 1298042	NM_018071.5(ARHGEF40):c.864G>A (p.Ala288=)	ARHGEF40	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1298043	NM_018071.5(ARHGEF40):c.877A>G (p.Lys293Glu)	ARHGEF40 (K293E)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
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 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 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 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 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 219348	NM_018071.5(ARHGEF40):c.1177C>G (p.Arg393Gly)	ARHGEF40 (R393G)	Single nucleotide variant (5 prime UTR variant +1 more)	Malignant tumor of prostate	GUncertain significance
Select item 785452	NM_018071.5(ARHGEF40):c.1204C>T (p.Pro402Ser)	ARHGEF40 (P402S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
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
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 2257247	NM_018071.5(ARHGEF40):c.1385G>A (p.Cys462Tyr)	ARHGEF40 (C462Y)	Single nucleotide variant (5 prime UTR variant +2 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 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 786615	NM_018071.5(ARHGEF40):c.1474C>T (p.Leu492=)	ARHGEF40	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
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 2210883	NM_018071.5(ARHGEF40):c.1558G>A (p.Val520Ile)	ARHGEF40 (V520I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
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 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 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 1801797	NM_018071.5(ARHGEF40):c.1760_1771del (p.Gly587_Leu591delinsVal)	ARHGEF40	Deletion (5 prime UTR variant +1 more)	Myoepithelial tumor	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 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 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 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 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 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 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 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 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 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 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 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 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 781269	NM_018071.5(ARHGEF40):c.2468G>A (p.Arg823Gln)	ARHGEF40 (R109Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2206863	NM_018071.5(ARHGEF40):c.2515C>T (p.Arg839Trp)	ARHGEF40 (R839W +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 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 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 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 1701730	NM_018071.5(ARHGEF40):c.2767C>T (p.Arg923Trp)	ARHGEF40 (R209W +1 more)	Single nucleotide variant (missense variant)	not provided	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 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 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 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 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 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 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 2226459	NM_018071.5(ARHGEF40):c.3113G>A (p.Arg1038Gln)	ARHGEF40 (R324Q +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 2227779	NM_018071.5(ARHGEF40):c.3202G>A (p.Gly1068Arg)	ARHGEF40 (G1068R +1 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 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 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 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 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 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 786616	NM_018071.5(ARHGEF40):c.3348G>A (p.Thr1116=)	ARHGEF40	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 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 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 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 2219801	NM_018071.5(ARHGEF40):c.3605G>A (p.Arg1202Gln)	ARHGEF40 (R1202Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2204019	NM_018071.5(ARHGEF40):c.3773C>T (p.Ala1258Val)	ARHGEF40 (A1258V +1 more)	Single nucleotide variant (missense variant)	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 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 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 2542928	NM_018071.5(ARHGEF40):c.3841A>G (p.Ile1281Val)	ARHGEF40, LOC126861886 (I1281V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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