21213[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 1684644	Single allele	ABRACL, AHI1 +260 more	Deletion	Autoinflammatory syndrome, familial, Behcet-like	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC129389692, LOC129389693 +614 more	Copy number gain	See cases	GPathogenic
Select item 3041335	NM_020340.5(ARFGEF3):c.137+4G>A	ARFGEF3	Single nucleotide variant (intron variant)	ARFGEF3-related disorder	GBenign
Select item 2251340	NM_020340.5(ARFGEF3):c.190C>G (p.Leu64Val)	ARFGEF3 (L64V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257750	NM_020340.5(ARFGEF3):c.194C>G (p.Ala65Gly)	ARFGEF3 (A65G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035248	NM_020340.5(ARFGEF3):c.265G>T (p.Asp89Tyr)	ARFGEF3 (D89Y)	Single nucleotide variant (missense variant)	ARFGEF3-related disorder	GLikely benign
Select item 715845	NM_020340.5(ARFGEF3):c.321C>T (p.Leu107=)	ARFGEF3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2521052	NM_020340.5(ARFGEF3):c.324C>A (p.Asn108Lys)	ARFGEF3 (N108K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 744372	NM_020340.5(ARFGEF3):c.324C>T (p.Asn108=)	ARFGEF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2457522	NM_021635.3(PBOV1):c.233A>G (p.His78Arg)	ARFGEF3, PBOV1 (H78R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271073	NM_021635.3(PBOV1):c.233A>T (p.His78Leu)	ARFGEF3, PBOV1 (H78L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590740	NM_021635.3(PBOV1):c.175G>A (p.Val59Ile)	ARFGEF3, PBOV1 (V59I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318401	NM_021635.3(PBOV1):c.170A>G (p.Glu57Gly)	ARFGEF3, PBOV1 (E57G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209020	NM_021635.3(PBOV1):c.143T>C (p.Phe48Ser)	ARFGEF3, PBOV1 (F48S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621904	NM_021635.3(PBOV1):c.118G>A (p.Ala40Thr)	ARFGEF3, PBOV1 (A40T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2656937	NM_021635.3(PBOV1):c.93C>T (p.Asn31=)	ARFGEF3, PBOV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3128402	NM_020340.5(ARFGEF3):c.428T>C (p.Ile143Thr)	ARFGEF3 (I143T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295655	NM_020340.5(ARFGEF3):c.545T>A (p.Ile182Lys)	ARFGEF3 (I182K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049634	NM_020340.5(ARFGEF3):c.656C>T (p.Ala219Val)	ARFGEF3 (A219V)	Single nucleotide variant (missense variant)	ARFGEF3-related disorder	GBenign
Select item 3035094	NM_020340.5(ARFGEF3):c.657C>T (p.Ala219=)	ARFGEF3	Single nucleotide variant (synonymous variant)	ARFGEF3-related disorder	GLikely benign
Select item 2344775	NM_020340.5(ARFGEF3):c.685C>T (p.Leu229Phe)	ARFGEF3 (L229F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034386	NM_020340.5(ARFGEF3):c.737T>C (p.Met246Thr)	ARFGEF3 (M246T)	Single nucleotide variant (missense variant)	ARFGEF3-related disorder	GLikely benign
Select item 2303238	NM_020340.5(ARFGEF3):c.741C>A (p.His247Gln)	ARFGEF3 (H247Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222808	NM_020340.5(ARFGEF3):c.748A>T (p.Arg250Trp)	ARFGEF3 (R250W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128413	NM_020340.5(ARFGEF3):c.752G>A (p.Arg251His)	ARFGEF3 (R251H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128414	NM_020340.5(ARFGEF3):c.857G>A (p.Ser286Asn)	ARFGEF3 (S286N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310295	NM_020340.5(ARFGEF3):c.880G>A (p.Ala294Thr)	ARFGEF3 (A294T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052686	NM_020340.5(ARFGEF3):c.948A>G (p.Gly316=)	ARFGEF3	Single nucleotide variant (synonymous variant)	ARFGEF3-related disorder	GLikely benign
Select item 2611350	NM_020340.5(ARFGEF3):c.959G>A (p.Arg320Gln)	ARFGEF3 (R320Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310346	NM_020340.5(ARFGEF3):c.982G>A (p.Glu328Lys)	ARFGEF3 (E328K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128381	NM_020340.5(ARFGEF3):c.1000G>A (p.Gly334Arg)	ARFGEF3 (G334R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546768	NM_020340.5(ARFGEF3):c.1001G>T (p.Gly334Val)	ARFGEF3 (G334V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593816	NM_020340.5(ARFGEF3):c.1024G>A (p.Val342Met)	ARFGEF3 (V342M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128382	NM_020340.5(ARFGEF3):c.1066C>T (p.Pro356Ser)	ARFGEF3 (P356S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215177	NM_020340.5(ARFGEF3):c.1076G>A (p.Arg359Gln)	ARFGEF3 (R359Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128383	NM_020340.5(ARFGEF3):c.1115G>T (p.Ser372Ile)	ARFGEF3 (S372I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386689	NM_020340.5(ARFGEF3):c.1124G>A (p.Arg375His)	ARFGEF3 (R375H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128384	NM_020340.5(ARFGEF3):c.1172A>G (p.Lys391Arg)	ARFGEF3 (K391R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128385	NM_020340.5(ARFGEF3):c.1180A>G (p.Ile394Val)	ARFGEF3 (I394V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781888	NM_020340.5(ARFGEF3):c.1236C>T (p.Thr412=)	ARFGEF3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3128386	NM_020340.5(ARFGEF3):c.1237G>A (p.Glu413Lys)	ARFGEF3 (E413K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 792058	NM_020340.5(ARFGEF3):c.1248C>T (p.Ile416=)	ARFGEF3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2364142	NM_020340.5(ARFGEF3):c.1249A>C (p.Lys417Gln)	ARFGEF3 (K417Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714321	NM_020340.5(ARFGEF3):c.1347T>G (p.Gly449=)	ARFGEF3	Single nucleotide variant (synonymous variant)	ARFGEF3-related disorder +1 more	GBenign
Select item 2392265	NM_020340.5(ARFGEF3):c.1369C>T (p.Arg457Cys)	ARFGEF3 (R457C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718442	NM_020340.5(ARFGEF3):c.1394C>G (p.Ala465Gly)	ARFGEF3 (A465G)	Single nucleotide variant (missense variant)	ARFGEF3-related disorder +1 more	GBenign
Select item 2511683	NM_020340.5(ARFGEF3):c.1406G>A (p.Arg469Gln)	ARFGEF3 (R469Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035912	NM_020340.5(ARFGEF3):c.1472C>T (p.Thr491Met)	ARFGEF3 (T491M)	Single nucleotide variant (missense variant)	ARFGEF3-related disorder	GBenign
Select item 3128387	NM_020340.5(ARFGEF3):c.1576G>A (p.Glu526Lys)	ARFGEF3 (E526K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042271	NM_020340.5(ARFGEF3):c.1644G>A (p.Leu548=)	ARFGEF3	Single nucleotide variant (synonymous variant)	ARFGEF3-related disorder	GBenign
Select item 3128388	NM_020340.5(ARFGEF3):c.1669G>A (p.Val557Ile)	ARFGEF3 (V557I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459815	NM_020340.5(ARFGEF3):c.1703C>T (p.Thr568Met)	ARFGEF3 (T568M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601110	NM_020340.5(ARFGEF3):c.1708C>G (p.Pro570Ala)	ARFGEF3 (P570A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3310356	NM_020340.5(ARFGEF3):c.1745G>A (p.Cys582Tyr)	ARFGEF3 (C582Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223745	NM_020340.5(ARFGEF3):c.1846A>G (p.Met616Val)	ARFGEF3 (M616V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041933	NM_020340.5(ARFGEF3):c.1896G>A (p.Ser632=)	ARFGEF3	Single nucleotide variant (synonymous variant)	ARFGEF3-related disorder	GLikely benign
Select item 3310255	NM_020340.5(ARFGEF3):c.1915G>A (p.Asp639Asn)	ARFGEF3 (D639N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128389	NM_020340.5(ARFGEF3):c.1930C>T (p.Pro644Ser)	ARFGEF3 (P644S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1705269	NM_020340.5(ARFGEF3):c.1960C>T (p.Arg654Ter)	ARFGEF3 (R654*)	Single nucleotide variant (nonsense)	Febrile seizure (within the age range of 3 months to 6 years)	GUncertain significance
Select item 2375143	NM_020340.5(ARFGEF3):c.2003C>T (p.Ala668Val)	ARFGEF3 (A668V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308948	NM_020340.5(ARFGEF3):c.2031A>G (p.Ile677Met)	ARFGEF3 (I677M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310245	NM_020340.5(ARFGEF3):c.2045G>T (p.Gly682Val)	ARFGEF3 (G682V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060331	NM_020340.5(ARFGEF3):c.2065T>G (p.Ser689Ala)	ARFGEF3 (S689A)	Single nucleotide variant (missense variant)	ARFGEF3-related disorder	GBenign
Select item 2342165	NM_020340.5(ARFGEF3):c.2071T>C (p.Ser691Pro)	ARFGEF3 (S691P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3128390	NM_020340.5(ARFGEF3):c.2086G>T (p.Val696Leu)	ARFGEF3 (V696L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656938	NM_020340.5(ARFGEF3):c.2094C>T (p.Thr698=)	ARFGEF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3128391	NM_020340.5(ARFGEF3):c.2095G>A (p.Ala699Thr)	ARFGEF3 (A699T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128392	NM_020340.5(ARFGEF3):c.2110G>T (p.Ala704Ser)	ARFGEF3 (A704S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776165	NM_020340.5(ARFGEF3):c.2111C>T (p.Ala704Val)	ARFGEF3 (A704V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3128393	NM_020340.5(ARFGEF3):c.2140T>C (p.Ser714Pro)	ARFGEF3 (S714P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128394	NM_020340.5(ARFGEF3):c.2270G>A (p.Arg757Gln)	ARFGEF3 (R757Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401931	NM_020340.5(ARFGEF3):c.2290G>T (p.Val764Leu)	ARFGEF3 (V764L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482733	NM_020340.5(ARFGEF3):c.2312A>G (p.Gln771Arg)	ARFGEF3 (Q771R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291500	NM_020340.5(ARFGEF3):c.2326G>A (p.Gly776Ser)	ARFGEF3 (G776S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602915	NM_020340.5(ARFGEF3):c.2345C>G (p.Ser782Cys)	ARFGEF3 (S782C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484551	NM_020340.5(ARFGEF3):c.2399G>C (p.Gly800Ala)	ARFGEF3 (G800A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128395	NM_020340.5(ARFGEF3):c.2477A>G (p.Glu826Gly)	ARFGEF3 (E826G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473743	NM_020340.5(ARFGEF3):c.2554G>C (p.Asp852His)	ARFGEF3 (D852H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394741	NM_020340.5(ARFGEF3):c.2584C>T (p.Arg862Cys)	ARFGEF3 (R862C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609626	NM_020340.5(ARFGEF3):c.2588A>G (p.Tyr863Cys)	ARFGEF3 (Y863C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524121	NM_020340.5(ARFGEF3):c.2654C>T (p.Ala885Val)	ARFGEF3 (A885V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477958	NM_020340.5(ARFGEF3):c.2700C>G (p.Ile900Met)	ARFGEF3 (I900M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128396	NM_020340.5(ARFGEF3):c.2746G>A (p.Asp916Asn)	ARFGEF3 (D916N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310323	NM_020340.5(ARFGEF3):c.2767C>T (p.Arg923Trp)	ARFGEF3 (R923W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310235	NM_020340.5(ARFGEF3):c.2779G>A (p.Ala927Thr)	ARFGEF3 (A927T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049593	NM_020340.5(ARFGEF3):c.2785+5C>A	ARFGEF3	Single nucleotide variant (intron variant)	ARFGEF3-related disorder	GLikely benign
Select item 3052025	NM_020340.5(ARFGEF3):c.2786-6C>G	ARFGEF3	Single nucleotide variant (intron variant)	ARFGEF3-related disorder	GLikely benign
Select item 3041206	NM_020340.5(ARFGEF3):c.2787C>T (p.Gly929=)	ARFGEF3	Single nucleotide variant (synonymous variant)	ARFGEF3-related disorder	GBenign
Select item 2518053	NM_020340.5(ARFGEF3):c.2968G>A (p.Val990Ile)	ARFGEF3 (V990I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040522	NM_020340.5(ARFGEF3):c.3039C>T (p.His1013=)	ARFGEF3	Single nucleotide variant (synonymous variant)	ARFGEF3-related disorder	GLikely benign
Select item 3056230	NM_020340.5(ARFGEF3):c.3060C>T (p.Tyr1020=)	ARFGEF3	Single nucleotide variant (synonymous variant)	ARFGEF3-related disorder	GLikely benign
Select item 2377282	NM_020340.5(ARFGEF3):c.3061G>T (p.Val1021Leu)	ARFGEF3 (V1021L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310276	NM_020340.5(ARFGEF3):c.3064G>A (p.Gly1022Ser)	ARFGEF3 (G1022S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310313	NM_020340.5(ARFGEF3):c.3135G>C (p.Lys1045Asn)	ARFGEF3 (K1045N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349914	NM_020340.5(ARFGEF3):c.3155T>C (p.Leu1052Pro)	ARFGEF3 (L1052P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402570	NM_020340.5(ARFGEF3):c.3211C>T (p.Arg1071Cys)	ARFGEF3 (R1071C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128397	NM_020340.5(ARFGEF3):c.3241C>T (p.Pro1081Ser)	ARFGEF3 (P1081S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331644	NM_020340.5(ARFGEF3):c.3244C>A (p.Leu1082Met)	ARFGEF3 (L1082M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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