ClinVar for Gene (Select 55701) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Inborn genetic diseases	GUncertain significance
Select item 2616874	NM_018071.5(ARHGEF40):c.4470C>A (p.Ser1490Arg)	ARHGEF40 (S1490R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616657	NM_018071.5(ARHGEF40):c.3220A>G (p.Thr1074Ala)	ARHGEF40 (T1074A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616040	NM_018071.5(ARHGEF40):c.3460C>T (p.Arg1154Cys)	ARHGEF40 (R1154C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602515	NM_018071.5(ARHGEF40):c.4514G>A (p.Arg1505Gln)	ARHGEF40 (R1505Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2599775	NM_018071.5(ARHGEF40):c.3779G>A (p.Arg1260His)	ARHGEF40 (R546H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2558651	NM_018071.5(ARHGEF40):c.3970A>G (p.Met1324Val)	ARHGEF40, LOC126861886 (M610V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GLikely benign
Select item 2542928	NM_018071.5(ARHGEF40):c.3841A>G (p.Ile1281Val)	ARHGEF40, LOC126861886 (I1281V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GLikely benign
Select item 2527660	NM_018071.5(ARHGEF40):c.2150A>G (p.Lys717Arg)	ARHGEF40 (K3R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523941	NM_018071.5(ARHGEF40):c.2902C>T (p.Arg968Trp)	ARHGEF40 (R254W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523497	NM_018071.5(ARHGEF40):c.2911G>C (p.Asp971His)	ARHGEF40 (D257H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515311	NM_018071.5(ARHGEF40):c.2716C>G (p.Leu906Val)	ARHGEF40 (L192V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2457737	NM_018071.5(ARHGEF40):c.3428G>A (p.Arg1143Gln)	ARHGEF40 (R1143Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456119	NM_018071.5(ARHGEF40):c.2292G>T (p.Glu764Asp)	ARHGEF40 (E50D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2422759	NC_000014.8:g.(?_20915399)_(22005055_?)del	PNP, RNASE12 +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)	Inborn genetic diseases	GUncertain significance
Select item 2405433	NM_018071.5(ARHGEF40):c.2831G>A (p.Arg944His)	ARHGEF40 (R230H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401477	NM_018071.5(ARHGEF40):c.3791T>C (p.Ile1264Thr)	ARHGEF40, LOC126861886 (I1264T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GLikely benign
Select item 2391826	NM_018071.5(ARHGEF40):c.3746G>A (p.Arg1249His)	ARHGEF40 (R1249H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383638	NM_018071.5(ARHGEF40):c.2474G>A (p.Arg825His)	ARHGEF40 (R825H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378421	NM_018071.5(ARHGEF40):c.3923G>C (p.Gly1308Ala)	ARHGEF40, LOC126861886 (G1308A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375215	NM_018071.5(ARHGEF40):c.2360G>A (p.Arg787Gln)	ARHGEF40 (R787Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370470	NM_018071.5(ARHGEF40):c.3581T>C (p.Met1194Thr)	ARHGEF40 (M1194T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2364865	NM_018071.5(ARHGEF40):c.4148T>C (p.Val1383Ala)	ARHGEF40 (V1383A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2330123	NM_018071.5(ARHGEF40):c.4196T>C (p.Ile1399Thr)	ARHGEF40 (I685T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2328700	NM_018071.5(ARHGEF40):c.3819G>C (p.Leu1273Phe)	ARHGEF40, LOC126861886 (L1273F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320420	NM_018071.5(ARHGEF40):c.2516G>C (p.Arg839Pro)	ARHGEF40 (R839P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2310830	NM_018071.5(ARHGEF40):c.3319C>T (p.Pro1107Ser)	ARHGEF40 (P1107S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307970	NM_018071.5(ARHGEF40):c.2672G>A (p.Arg891Gln)	ARHGEF40 (R177Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296197	NM_018071.5(ARHGEF40):c.4390C>T (p.Pro1464Ser)	ARHGEF40 (P1464S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290616	NM_018071.5(ARHGEF40):c.3389G>A (p.Arg1130Gln)	ARHGEF40 (R416Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2277277	NM_018071.5(ARHGEF40):c.2948G>A (p.Arg983His)	ARHGEF40 (R983H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2269133	NM_018071.5(ARHGEF40):c.4031G>A (p.Arg1344Gln)	ARHGEF40, LOC126861886 (R1344Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268673	NM_018071.5(ARHGEF40):c.2587C>G (p.Gln863Glu)	ARHGEF40 (Q149E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2256539	NM_018071.5(ARHGEF40):c.4339C>G (p.Arg1447Gly)	ARHGEF40 (R1447G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2247657	NM_018071.5(ARHGEF40):c.4300C>G (p.Leu1434Val)	ARHGEF40 (L1434V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2227779	NM_018071.5(ARHGEF40):c.3202G>A (p.Gly1068Arg)	ARHGEF40 (G1068R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226459	NM_018071.5(ARHGEF40):c.3113G>A (p.Arg1038Gln)	ARHGEF40 (R324Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219801	NM_018071.5(ARHGEF40):c.3605G>A (p.Arg1202Gln)	ARHGEF40 (R1202Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216777	NM_018071.5(ARHGEF40):c.4454C>A (p.Pro1485His)	ARHGEF40 (P1485H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GLikely benign
Select item 2210851	NM_018071.5(ARHGEF40):c.4514G>T (p.Arg1505Leu)	ARHGEF40 (R1505L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206863	NM_018071.5(ARHGEF40):c.2515C>T (p.Arg839Trp)	ARHGEF40 (R839W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2204019	NM_018071.5(ARHGEF40):c.3773C>T (p.Ala1258Val)	ARHGEF40 (A1258V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1809420	GRCh37/hg19 14q11.2(chr14:21496133-21962265)x3	ARHGEF40, CHD8 +12 more	Copy number gain	not provided	GUncertain significance
Select item 1808729	GRCh37/hg19 14q11.2(chr14:20690196-23114522)x1	ABHD4, ANG +52 more	Copy number loss	not provided	GPathogenic
Select item 1807993	GRCh37/hg19 14q11.2(chr14:21349608-21618292)x3	ARHGEF40, METTL17 +10 more	Copy number gain	not provided	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 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
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 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 1527802	GRCh37/hg19 14q11.2(chr14:21451544-21962317)	ARHGEF40, CHD8 +15 more	Copy number gain	not specified	GUncertain significance
Select item 1326312	GRCh37/hg19 14q11.2(chr14:20925965-23649548)x3	PRMT5, PSMB11 +60 more	Copy number gain	14q11.2 microduplication	GLikely pathogenic
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 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 1248959	NM_018071.5(ARHGEF40):c.4551G>A (p.Thr1517=)	ARHGEF40	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 980000	GRCh37/hg19 14q11.2(chr14:20511672-21915516)x1	ANG, APEX1 +46 more	Copy number loss	not provided	GPathogenic
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided
Select item 815630	GRCh37/hg19 14q11.2(chr14:21159605-22252320)x4	TOX4, ARHGEF40 +29 more	Copy number gain	not provided	GLikely pathogenic
Select item 815629	GRCh37/hg19 14q11.2(chr14:21143933-23297667)x1	OR10G3, OXA1L +33 more	Copy number loss	not provided	GPathogenic
Select item 815628	GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3	ABHD4, ACIN1 +187 more	Copy number gain	not provided	GPathogenic
Select item 786616	NM_018071.5(ARHGEF40):c.3348G>A (p.Thr1116=)	ARHGEF40	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 781269	NM_018071.5(ARHGEF40):c.2468G>A (p.Arg823Gln)	ARHGEF40 (R109Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 689180	GRCh37/hg19 14q11.2(chr14:21490055-21962265)x3	ARHGEF40, CHD8 +13 more	Copy number gain	not provided	GUncertain significance
Select item 687290	GRCh37/hg19 14q11.2(chr14:21424506-21589630)x3	ARHGEF40, METTL17 +9 more	Copy number gain	not provided	GUncertain significance
Select item 625814	GRCh37/hg19 14q11.2-12(chr14:19100682-28730087)	ARHGEF40, BCL2L2 +152 more	Copy number gain	not provided	GPathogenic
Select item 564121	GRCh37/hg19 14q11.2(chr14:21417035-21962317)x3	SUPT16H, TMEM253 +16 more	Copy number gain	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ACTN1, ACTR10 +635 more	Copy number gain	See cases	GPathogenic
Select item 394361	GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3	CIDEB, MIR208A +164 more	Copy number gain	See cases	GPathogenic
Select item 253921	GRCh37/hg19 14q11.2(chr14:21520503-21878421)x3	CHD8, ARHGEF40 +7 more	Copy number gain	See cases	GUncertain significance
Select item 253894	GRCh37/hg19 14q11.2(chr14:20978713-21575128)x3	ANG, ARHGEF40 +25 more	Copy number gain	See cases	GUncertain significance
Select item 253659	GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3	ABHD4, ACIN1 +149 more	Copy number gain	See cases	GPathogenic
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

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