ClinVar for Gene (Select 10564) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3353215	NM_006420.3(ARFGEF2):c.1525+10C>T	ARFGEF2	Single nucleotide variant (intron variant)	ARFGEF2-related disorder	GLikely benign
Select item 3348524	NM_006420.3(ARFGEF2):c.773G>A (p.Ser258Asn)	ARFGEF2 (S258N)	Single nucleotide variant (missense variant)	ARFGEF2-related disorder	GUncertain significance
Select item 3342310	NM_006420.3(ARFGEF2):c.3238A>G (p.Thr1080Ala)	ARFGEF2 (T1079A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3310214	NM_006420.3(ARFGEF2):c.4162C>G (p.Pro1388Ala)	ARFGEF2 (P1387A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3310205	NM_006420.3(ARFGEF2):c.3091G>C (p.Ala1031Pro)	ARFGEF2 (A1030P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3310199	NM_006420.3(ARFGEF2):c.674C>T (p.Ala225Val)	ARFGEF2 (A225V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3310195	NM_006420.3(ARFGEF2):c.3589C>T (p.Pro1197Ser)	ARFGEF2 (P1196S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3310186	NM_006420.3(ARFGEF2):c.736G>A (p.Glu246Lys)	ARFGEF2 (E246K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3310176	NM_006420.3(ARFGEF2):c.2024T>C (p.Val675Ala)	ARFGEF2 (V674A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3310155	NM_006420.3(ARFGEF2):c.5287G>A (p.Gly1763Ser)	ARFGEF2 (G1763S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3254661	NM_006420.3(ARFGEF2):c.4918C>T (p.Arg1640Ter)	ARFGEF2 (R1639* +1 more)	Single nucleotide variant (nonsense)	Periventricular heterotopia with microcephaly, autosomal recessive	GPathogenic
Select item 3248337	NC_000020.10:g.(?_47340117)_(47538567_?)dup	ARFGEF2, PREX1	Duplication	not provided	GUncertain significance
Select item 3128380	NM_006420.3(ARFGEF2):c.4955T>G (p.Leu1652Arg)	ARFGEF2 (L1651R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3128378	NM_006420.3(ARFGEF2):c.4072A>G (p.Ile1358Val)	ARFGEF2 (I1357V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3128377	NM_006420.3(ARFGEF2):c.3832G>T (p.Ala1278Ser)	ARFGEF2 (A1277S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3128376	NM_006420.3(ARFGEF2):c.3692A>G (p.Gln1231Arg)	ARFGEF2 (Q1230R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3128374	NM_006420.3(ARFGEF2):c.3202G>A (p.Val1068Met)	ARFGEF2 (V1067M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3128373	NM_006420.3(ARFGEF2):c.2849G>A (p.Arg950His)	ARFGEF2 (R949H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3128372	NM_006420.3(ARFGEF2):c.2532G>T (p.Gln844His)	ARFGEF2 (Q843H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3128371	NM_006420.3(ARFGEF2):c.2066A>C (p.Asp689Ala)	ARFGEF2 (D688A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3128370	NM_006420.3(ARFGEF2):c.1954G>A (p.Glu652Lys)	ARFGEF2 (E652K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3128369	NM_006420.3(ARFGEF2):c.187A>G (p.Ile63Val)	ARFGEF2 (I63V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3128368	NM_006420.3(ARFGEF2):c.154C>T (p.Leu52Phe)	ARFGEF2 (L52F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3064073	NM_006420.3(ARFGEF2):c.2776C>T (p.Arg926Ter)	ARFGEF2 (R925* +1 more)	Single nucleotide variant (nonsense)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 3061738	NM_006420.3(ARFGEF2):c.3195G>A (p.Ser1065=)	ARFGEF2	Single nucleotide variant (synonymous variant)	ARFGEF2-related disorder	GLikely benign
Select item 3053438	NM_006420.3(ARFGEF2):c.4791G>A (p.Thr1597=)	ARFGEF2	Single nucleotide variant (synonymous variant)	ARFGEF2-related disorder	GLikely benign
Select item 3048746	NM_006420.3(ARFGEF2):c.*2C>G	ARFGEF2	Single nucleotide variant (3 prime UTR variant)	ARFGEF2-related disorder	GLikely benign
Select item 3048300	NM_006420.3(ARFGEF2):c.1228C>T (p.Leu410=)	ARFGEF2	Single nucleotide variant (synonymous variant)	ARFGEF2-related disorder	GLikely benign
Select item 3048147	NM_006420.3(ARFGEF2):c.4620C>T (p.Tyr1540=)	ARFGEF2	Single nucleotide variant (synonymous variant)	ARFGEF2-related disorder	GLikely benign
Select item 3045992	NM_006420.3(ARFGEF2):c.2362-9dup	ARFGEF2	Duplication (intron variant)	ARFGEF2-related disorder	GLikely benign
Select item 3039234	NM_006420.3(ARFGEF2):c.5352G>A (p.Val1784=)	ARFGEF2	Single nucleotide variant (synonymous variant)	ARFGEF2-related disorder	GLikely benign
Select item 3038242	NM_006420.3(ARFGEF2):c.2319G>A (p.Ala773=)	ARFGEF2	Single nucleotide variant (synonymous variant)	ARFGEF2-related disorder	GBenign
Select item 3031205	NM_006420.3(ARFGEF2):c.1026T>C (p.Asp342=)	ARFGEF2	Single nucleotide variant (synonymous variant)	ARFGEF2-related disorder	GLikely benign
Select item 3029437	NM_006420.3(ARFGEF2):c.4456T>C (p.Leu1486=)	ARFGEF2	Single nucleotide variant (synonymous variant)	ARFGEF2-related disorder	GLikely benign
Select item 3018994	NM_006420.3(ARFGEF2):c.3433-12G>A	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3014889	NM_006420.3(ARFGEF2):c.2556G>A (p.Arg852=)	ARFGEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010752	NM_006420.3(ARFGEF2):c.1065G>A (p.Ser355=)	ARFGEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981615	NM_006420.3(ARFGEF2):c.2223G>A (p.Lys741=)	ARFGEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974618	NM_006420.3(ARFGEF2):c.615C>T (p.Ala205=)	ARFGEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2914561	NM_006420.3(ARFGEF2):c.984C>T (p.Pro328=)	ARFGEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2903354	NM_006420.3(ARFGEF2):c.2448A>G (p.Ser816=)	ARFGEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2883515	NM_006420.3(ARFGEF2):c.3222-9T>C	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2875115	NM_006420.3(ARFGEF2):c.2754C>T (p.Ala918=)	ARFGEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870548	NM_006420.3(ARFGEF2):c.3234G>T (p.Gly1078=)	ARFGEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2859821	NM_006420.3(ARFGEF2):c.1059+16T>A	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2849236	NM_006420.3(ARFGEF2):c.4455-14A>G	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2823560	NM_006420.3(ARFGEF2):c.3222-20G>T	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2806454	NM_006420.3(ARFGEF2):c.2814+16C>T	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2791159	NM_006420.3(ARFGEF2):c.966C>T (p.Cys322=)	ARFGEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2783781	NM_006420.3(ARFGEF2):c.4454+17T>C	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2779864	NM_006420.3(ARFGEF2):c.2686-13C>T	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2766707	NM_006420.3(ARFGEF2):c.4716G>A (p.Thr1572=)	ARFGEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2766629	NM_006420.3(ARFGEF2):c.3463A>G (p.Ile1155Val)	ARFGEF2 (I1154V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2764481	NM_006420.3(ARFGEF2):c.907+8C>T	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2755798	NM_006420.3(ARFGEF2):c.2685+7dup	ARFGEF2	Duplication (intron variant)	not provided	GLikely benign
Select item 2745559	NM_006420.3(ARFGEF2):c.3121+18A>G	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2745347	NM_006420.3(ARFGEF2):c.2919G>A (p.Thr973=)	ARFGEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2738878	NM_006420.3(ARFGEF2):c.4773A>G (p.Ala1591=)	ARFGEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2731251	NM_006420.3(ARFGEF2):c.168A>G (p.Ala56=)	ARFGEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2728906	NM_006420.3(ARFGEF2):c.51G>A (p.Lys17=)	ARFGEF2, LOC130066081	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2724146	NM_006420.3(ARFGEF2):c.2697G>T (p.Thr899=)	ARFGEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2720413	NM_006420.3(ARFGEF2):c.321T>C (p.Ser107=)	ARFGEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2719801	NM_006420.3(ARFGEF2):c.2534-20A>G	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2717648	NM_006420.3(ARFGEF2):c.2071-15GT[2]	ARFGEF2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2717022	NM_006420.3(ARFGEF2):c.3033G>A (p.Thr1011=)	ARFGEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2693262	NM_006420.3(ARFGEF2):c.3433-20C>A	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2683546	NM_006420.3(ARFGEF2):c.4832T>C (p.Leu1611Pro)	ARFGEF2 (L1610P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2681359	NM_006420.3(ARFGEF2):c.994G>T (p.Asp332Tyr)	ARFGEF2 (D331Y +1 more)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2652386	NM_006420.3(ARFGEF2):c.3288T>C (p.Ala1096=)	ARFGEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652385	NM_006420.3(ARFGEF2):c.2560C>T (p.Leu854=)	ARFGEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652384	NM_006420.3(ARFGEF2):c.1308_1309dup (p.Cys437fs)	ARFGEF2 (C436fs +1 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2652383	NM_006420.3(ARFGEF2):c.1143G>A (p.Leu381=)	ARFGEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652382	NM_006420.3(ARFGEF2):c.1060-4C>T	ARFGEF2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2652381	NM_006420.3(ARFGEF2):c.849C>T (p.Asp283=)	ARFGEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2634869	NM_006420.3(ARFGEF2):c.1852A>G (p.Met618Val)	ARFGEF2 (M617V +1 more)	Single nucleotide variant (missense variant)	ARFGEF2-related disorder	GUncertain significance
Select item 2616443	NM_006420.3(ARFGEF2):c.3172G>A (p.Glu1058Lys)	ARFGEF2 (E1057K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602823	NM_006420.3(ARFGEF2):c.1024G>T (p.Asp342Tyr)	ARFGEF2 (D342Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598604	NM_006420.3(ARFGEF2):c.3299A>T (p.Asp1100Val)	ARFGEF2 (D1099V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2585457	NM_006420.3(ARFGEF2):c.91C>T (p.Gln31Ter)	ARFGEF2 (Q31*)	Single nucleotide variant (nonsense)	Periventricular heterotopia with microcephaly, autosomal recessive	GLikely pathogenic
Select item 2578259	NM_006420.3(ARFGEF2):c.3857C>T (p.Thr1286Met)	ARFGEF2 (T1285M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578220	NM_006420.3(ARFGEF2):c.1979G>C (p.Arg660Thr)	ARFGEF2 (R659T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2564475	NM_006420.3(ARFGEF2):c.3619A>G (p.Ile1207Val)	ARFGEF2 (I1206V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523402	NM_006420.3(ARFGEF2):c.2117A>G (p.Glu706Gly)	ARFGEF2 (E706G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515237	NM_006420.3(ARFGEF2):c.5267G>A (p.Arg1756Gln)	ARFGEF2 (R1755Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513914	NM_006420.3(ARFGEF2):c.1790C>T (p.Thr597Met)	ARFGEF2 (T596M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2499291	NM_006420.3(ARFGEF2):c.4889C>T (p.Ser1630Phe)	ARFGEF2 (S1629F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2492830	NM_006420.3(ARFGEF2):c.2739T>G (p.Asp913Glu)	ARFGEF2 (D913E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482689	NM_006420.3(ARFGEF2):c.4529A>G (p.Gln1510Arg)	ARFGEF2 (Q1510R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481677	NM_006420.3(ARFGEF2):c.5228T>G (p.Met1743Arg)	ARFGEF2 (M1743R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477037	NM_006420.3(ARFGEF2):c.737A>T (p.Glu246Val)	ARFGEF2 (E246V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470317	NM_006420.3(ARFGEF2):c.2200C>T (p.Arg734Cys)	ARFGEF2 (R733C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2443384	NM_006420.3(ARFGEF2):c.1420A>T (p.Ile474Leu)	ARFGEF2 (I473L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439149	NM_006420.3(ARFGEF2):c.728C>G (p.Thr243Arg)	ARFGEF2 (T243R)	Single nucleotide variant (missense variant)	Periventricular heterotopia with microcephaly, autosomal recessive	GUncertain significance
Select item 2434911	NM_006420.3(ARFGEF2):c.2821C>T (p.Arg941Ter)	ARFGEF2 (R940* +1 more)	Single nucleotide variant (nonsense)	Periventricular heterotopia with microcephaly, autosomal recessive	GLikely pathogenic
Select item 2428370	NM_006420.3(ARFGEF2):c.1261G>A (p.Val421Ile)	ARFGEF2 (V420I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2397631	NM_006420.3(ARFGEF2):c.4904G>A (p.Arg1635Gln)	ARFGEF2 (R1635Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393622	NM_006420.3(ARFGEF2):c.1216G>A (p.Val406Ile)	ARFGEF2 (V405I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392029	NM_006420.3(ARFGEF2):c.1042T>A (p.Ser348Thr)	ARFGEF2 (S347T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372956	NM_006420.3(ARFGEF2):c.4451A>G (p.His1484Arg)	ARFGEF2 (H1484R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342920	NM_006420.3(ARFGEF2):c.4778T>G (p.Ile1593Ser)	ARFGEF2 (I1593S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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