ClinVar for Gene (Select 50649) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3313952	NM_001367493.1(ARHGEF4):c.4420G>C (p.Val1474Leu)	ARHGEF4 (V165L +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313942	NM_001367493.1(ARHGEF4):c.4343C>T (p.Ala1448Val)	ARHGEF4 (A192V +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313935	NM_001367493.1(ARHGEF4):c.5623C>T (p.Arg1875Cys)	ARHGEF4 (R652C +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313924	NM_001367493.1(ARHGEF4):c.4291G>T (p.Ala1431Ser)	ARHGEF4 (A208S +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313913	NM_001367493.1(ARHGEF4):c.4052A>G (p.Tyr1351Cys)	ARHGEF4 (Y165C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313903	NM_001367493.1(ARHGEF4):c.4948C>T (p.Leu1650Phe)	ARHGEF4 (L257F +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313894	NM_001367493.1(ARHGEF4):c.4097G>C (p.Gly1366Ala)	ARHGEF4 (G143A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129329	NM_001367493.1(ARHGEF4):c.5602A>G (p.Ile1868Val)	ARHGEF4 (I631V +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129328	NM_001367493.1(ARHGEF4):c.3722C>T (p.Pro1241Leu)	ARHGEF4 (P70L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129327	NM_001367493.1(ARHGEF4):c.4753G>A (p.Val1585Met)	ARHGEF4 (V362M +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062651	GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1	ACOXL, ACTR3 +121 more	Copy number loss	not specified	GPathogenic
Select item 3059424	NM_001367493.1(ARHGEF4):c.3811G>A (p.Val1271Ile)	ARHGEF4 (V100I +3 more)	Single nucleotide variant (missense variant)	ARHGEF4-related disorder	GBenign
Select item 3058950	NM_001367493.1(ARHGEF4):c.3615G>A (p.Ala1205=)	ARHGEF4	Single nucleotide variant (synonymous variant +1 more)	ARHGEF4-related disorder	GBenign
Select item 3057984	NM_001367493.1(ARHGEF4):c.5506C>T (p.Arg1836Cys)	ARHGEF4 (R1836C +7 more)	Single nucleotide variant (missense variant)	ARHGEF4-related disorder	GLikely benign
Select item 3057837	NM_001367493.1(ARHGEF4):c.5479+6C>T	ARHGEF4	Single nucleotide variant (intron variant)	ARHGEF4-related disorder	GLikely benign
Select item 3055655	NM_001367493.1(ARHGEF4):c.5331C>T (p.Pro1777=)	ARHGEF4	Single nucleotide variant (synonymous variant)	ARHGEF4-related disorder	GBenign
Select item 3051001	NM_001367493.1(ARHGEF4):c.3810C>T (p.His1270=)	ARHGEF4	Single nucleotide variant (synonymous variant)	ARHGEF4-related disorder	GLikely benign
Select item 3050579	NM_001367493.1(ARHGEF4):c.4611C>T (p.Phe1537=)	ARHGEF4	Single nucleotide variant (synonymous variant)	ARHGEF4-related disorder	GLikely benign
Select item 3048565	NM_001367493.1(ARHGEF4):c.3985G>A (p.Ala1329Thr)	ARHGEF4 (A106T +3 more)	Single nucleotide variant (missense variant)	ARHGEF4-related disorder	GLikely benign
Select item 3044907	NM_001367493.1(ARHGEF4):c.3985+9C>T	ARHGEF4	Single nucleotide variant (intron variant)	ARHGEF4-related disorder	GLikely benign
Select item 3040604	NM_001367493.1(ARHGEF4):c.4422C>T (p.Val1474=)	ARHGEF4	Single nucleotide variant (synonymous variant)	ARHGEF4-related disorder	GLikely benign
Select item 3040261	NM_001367493.1(ARHGEF4):c.5617C>T (p.Pro1873Ser)	ARHGEF4 (P1873S +7 more)	Single nucleotide variant (missense variant)	ARHGEF4-related disorder	GBenign
Select item 3038443	NM_001367493.1(ARHGEF4):c.5489G>A (p.Arg1830Gln)	ARHGEF4 (R1830Q +7 more)	Single nucleotide variant (missense variant)	ARHGEF4-related disorder	GBenign
Select item 3033122	NM_001367493.1(ARHGEF4):c.5479+15G>C	ARHGEF4	Single nucleotide variant (intron variant)	ARHGEF4-related disorder	GLikely benign
Select item 3025452	NM_001367493.1(ARHGEF4):c.1888G>A (p.Ala630Thr)	ARHGEF4 (A630T)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 3025084	NM_001367493.1(ARHGEF4):c.2435G>A (p.Gly812Glu)	ARHGEF4 (G812E)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2684708	GRCh37/hg19 2q21.1-21.2(chr2:131777624-134871884)x1	ARHGEF4, CCDC74A +11 more	Copy number loss	not provided	GUncertain significance
Select item 2684697	GRCh37/hg19 2q21.1(chr2:130817326-132099295)x1	AMER3, ARHGEF4 +16 more	Copy number loss	not provided	GUncertain significance
Select item 2651371	NM_001367493.1(ARHGEF4):c.3986-16085C>T	ARHGEF4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2615981	NM_001367493.1(ARHGEF4):c.3915C>G (p.Ser1305Arg)	ARHGEF4 (S1305R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615948	NM_001367493.1(ARHGEF4):c.3974C>A (p.Thr1325Lys)	ARHGEF4 (T102K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612000	NM_001367493.1(ARHGEF4):c.4370A>C (p.Glu1457Ala)	ARHGEF4 (E148A +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603878	NM_001367493.1(ARHGEF4):c.5209G>A (p.Gly1737Ser)	ARHGEF4 (G551S +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568891	NM_001367493.1(ARHGEF4):c.3980G>C (p.Gly1327Ala)	ARHGEF4 (G104A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551498	NM_001367493.1(ARHGEF4):c.3709G>T (p.Ala1237Ser)	ARHGEF4 (A1237S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543462	NM_001367493.1(ARHGEF4):c.3844A>C (p.Lys1282Gln)	ARHGEF4 (K59Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536933	NM_001367493.1(ARHGEF4):c.4407G>T (p.Gln1469His)	ARHGEF4 (Q213H +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525433	NM_001367493.1(ARHGEF4):c.3743C>T (p.Ser1248Leu)	ARHGEF4 (S1248L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523781	NM_001367493.1(ARHGEF4):c.3620A>G (p.His1207Arg)	ARHGEF4 (H21R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520992	NM_001367493.1(ARHGEF4):c.5173G>A (p.Asp1725Asn)	ARHGEF4 (D469N +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518419	NM_001367493.1(ARHGEF4):c.4267G>A (p.Ala1423Thr)	ARHGEF4 (A114T +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512359	NM_001367493.1(ARHGEF4):c.4966C>T (p.Arg1656Trp)	ARHGEF4 (R470W +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495211	NM_001367493.1(ARHGEF4):c.5350C>A (p.Leu1784Ile)	ARHGEF4 (L391I +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476554	NM_001367493.1(ARHGEF4):c.4918G>T (p.Ala1640Ser)	ARHGEF4 (A384S +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470472	NM_001367493.1(ARHGEF4):c.5488C>T (p.Arg1830Trp)	ARHGEF4 (R1830W +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467807	NM_001367493.1(ARHGEF4):c.3701G>A (p.Arg1234His)	ARHGEF4 (R11H +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2464258	NM_001367493.1(ARHGEF4):c.3631G>T (p.Ala1211Ser)	ARHGEF4 (A25S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396676	NM_001367493.1(ARHGEF4):c.5504C>T (p.Thr1835Met)	ARHGEF4 (T664M +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388671	NM_001367493.1(ARHGEF4):c.5066C>T (p.Ser1689Leu)	ARHGEF4 (S380L +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374905	NM_001367493.1(ARHGEF4):c.3739C>T (p.Arg1247Cys)	ARHGEF4 (R1247C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354790	NM_001367493.1(ARHGEF4):c.5293G>A (p.Ala1765Thr)	ARHGEF4 (A456T +7 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2338643	NM_001367493.1(ARHGEF4):c.4270G>A (p.Asp1424Asn)	ARHGEF4 (D201N +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337234	NM_001367493.1(ARHGEF4):c.5074C>A (p.Leu1692Met)	ARHGEF4 (L521M +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329851	NM_001367493.1(ARHGEF4):c.3808C>A (p.His1270Asn)	ARHGEF4 (H47N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319234	NM_001367493.1(ARHGEF4):c.4544T>A (p.Ile1515Asn)	ARHGEF4 (I292N +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319233	NM_001367493.1(ARHGEF4):c.3622A>T (p.Met1208Leu)	ARHGEF4 (M22L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281444	NM_001367493.1(ARHGEF4):c.3940A>G (p.Thr1314Ala)	ARHGEF4 (T143A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279002	NM_001367493.1(ARHGEF4):c.5396A>G (p.Glu1799Gly)	ARHGEF4 (E562G +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272789	NM_001367493.1(ARHGEF4):c.4333G>A (p.Asp1445Asn)	ARHGEF4 (D1445N +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268884	NM_001367493.1(ARHGEF4):c.5203A>C (p.Met1735Leu)	ARHGEF4 (M512L +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253179	NM_001367493.1(ARHGEF4):c.5288G>A (p.Arg1763His)	ARHGEF4 (R1763H +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242040	NM_001367493.1(ARHGEF4):c.4620G>C (p.Glu1540Asp)	ARHGEF4 (E1540D +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238965	NM_001367493.1(ARHGEF4):c.5146T>A (p.Tyr1716Asn)	ARHGEF4 (Y323N +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224408	NM_001367493.1(ARHGEF4):c.4126C>G (p.Leu1376Val)	ARHGEF4 (L120V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223630	NM_001367493.1(ARHGEF4):c.3568G>A (p.Glu1190Lys)	ARHGEF4 (E1190K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216078	NM_001367493.1(ARHGEF4):c.4300G>A (p.Val1434Ile)	ARHGEF4 (V178I +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212430	NM_001367493.1(ARHGEF4):c.3748G>A (p.Val1250Ile)	ARHGEF4 (V64I +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2207021	NM_001367493.1(ARHGEF4):c.4039G>A (p.Glu1347Lys)	ARHGEF4 (E38K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808259	GRCh37/hg19 2q21.1(chr2:131452093-132035609)x3	AMER3, ARHGEF4 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1679114	GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3	EPB41L5, ERCC3 +120 more	Copy number gain	2q13q22.3 microduplication syndrome	GPathogenic
Select item 1341253	GRCh37/hg19 2q21.1(chr2:131477947-132215063)x1	AMER3, ARHGEF4 +4 more	Copy number loss	not provided	GUncertain significance
Select item 1340706	GRCh37/hg19 2q21.1(chr2:131441707-131993678)x3	AMER3, ARHGEF4 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1340017	GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3	GPR39, IL1F10 +122 more	Copy number gain	not provided	GPathogenic
Select item 1339988	GRCh37/hg19 2q14.3-22.2(chr2:122699106-143799629)x1	ACMSD, AMER3 +64 more	Copy number loss	not provided	GPathogenic
Select item 980585	GRCh37/hg19 2q21.1(chr2:131441737-131738211)x3	AMER3, ARHGEF4 +1 more	Copy number gain	not provided	GLikely benign
Select item 929341	GRCh37/hg19 2q14.3-21.2(chr2:122952356-133826358)x1	AMER3, AMMECR1L +44 more	Copy number loss	See cases	GLikely pathogenic
Select item 814305	GRCh37/hg19 2q21.1(chr2:131477947-132280823)x1	ARHGEF4, TUBA3D +6 more	Copy number loss	not provided	GUncertain significance
Select item 783983	NM_001367493.1(ARHGEF4):c.3963G>C (p.Trp1321Cys)	ARHGEF4 (W98C +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 722926	NM_001367493.1(ARHGEF4):c.4365A>G (p.Gly1455=)	ARHGEF4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 721099	NM_001367493.1(ARHGEF4):c.5025+8C>T	ARHGEF4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 721098	NM_001367493.1(ARHGEF4):c.4248G>A (p.Glu1416=)	ARHGEF4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 689335	GRCh37/hg19 2q21.1(chr2:131391068-132046784)x3	AMER3, ARHGEF4 +5 more	Copy number gain	not provided	GUncertain significance
Select item 688619	GRCh37/hg19 2q21.1(chr2:131782700-131846178)x3	ARHGEF4, FAM168B	Copy number gain	not provided	GUncertain significance
Select item 688601	GRCh37/hg19 2q21.1(chr2:131452092-131934102)x1	AMER3, ARHGEF4 +3 more	Copy number loss	not provided	GUncertain significance
Select item 688280	GRCh37/hg19 2q21.1(chr2:131477947-131997817)x3	AMER3, ARHGEF4 +4 more	Copy number gain	not provided	GUncertain significance
Select item 686711	GRCh37/hg19 2q21.1(chr2:131461909-131967138)x1	AMER3, ARHGEF4 +3 more	Copy number loss	not provided	GUncertain significance
Select item 686172	GRCh37/hg19 2q21.1(chr2:131441707-131950529)x3	AMER3, ARHGEF4 +3 more	Copy number gain	not provided	GUncertain significance
Select item 685771	GRCh37/hg19 2q21.1-21.2(chr2:130916858-134213436)x3	AMER3, IMP4 +23 more	Copy number gain	not provided	GUncertain significance
Select item 685441	GRCh37/hg19 2q21.1(chr2:131461909-131929142)x1	AMER3, ARHGEF4 +3 more	Copy number loss	not provided	GUncertain significance
Select item 685387	GRCh37/hg19 2q21.1(chr2:131452092-132269288)x3	AMER3, ARHGEF4 +6 more	Copy number gain	not provided	GUncertain significance
Select item 685027	GRCh37/hg19 2q21.1(chr2:131441725-132267790)x3	AMER3, ARHGEF4 +6 more	Copy number gain	not provided	GUncertain significance
Select item 685009	GRCh37/hg19 2q21.1(chr2:131461909-131993678)x3	AMER3, ARHGEF4 +4 more	Copy number gain	not provided	GUncertain significance
Select item 684908	GRCh37/hg19 2q21.1(chr2:131478004-131967138)x3	AMER3, ARHGEF4 +3 more	Copy number gain	not provided	GUncertain significance
Select item 625693	GRCh37/hg19 2q21.1(chr2:131487820-132166509)	AMER3, ARHGEF4 +4 more	Copy number loss	not provided	GPathogenic
Select item 625692	GRCh37/hg19 2q21.1(chr2:131486951-131933628)	AMER3, ARHGEF4 +3 more	Copy number loss	not provided	GLikely pathogenic
Select item 562617	GRCh37/hg19 2q21.1(chr2:130874475-131765997)x1	TUBA3E, PTPN18 +13 more	Copy number loss	not provided	GLikely pathogenic
Select item 562611	GRCh37/hg19 2q21.1(chr2:131440484-132126860)x3	FAM168B, GPR148 +4 more	Copy number gain	not provided	GUncertain significance
Select item 562599	GRCh37/hg19 2q21.1(chr2:131477947-132048781)x1	FAM168B, ARHGEF4 +4 more	Copy number loss	not provided	GLikely benign
Select item 562589	GRCh37/hg19 2q21.1(chr2:131477947-131956516)x1	PLEKHB2, FAM168B +3 more	Copy number loss	not provided	GUncertain significance

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