ClinVar for Gene (Select 10565) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236576	NM_006421.5(ARFGEF1):c.1378C>A (p.Leu460Ile)	ARFGEF1 (L260I +1 more)	Single nucleotide variant (missense variant +2 more)	Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures	GUncertain significance
Select item 3235716	NM_006421.5(ARFGEF1):c.4081T>C (p.Phe1361Leu)	ARFGEF1 (F1161L +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3128367	NM_006421.5(ARFGEF1):c.688C>T (p.His230Tyr)	ARFGEF1 (H230Y +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3128366	NM_006421.5(ARFGEF1):c.684T>G (p.His228Gln)	ARFGEF1 (H228Q +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 3128365	NM_006421.5(ARFGEF1):c.4693A>G (p.Ile1565Val)	ARFGEF1 (I1559V +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3128363	NM_006421.5(ARFGEF1):c.4649C>T (p.Ala1550Val)	ARFGEF1 (A1350V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3128362	NM_006421.5(ARFGEF1):c.4452G>C (p.Gln1484His)	ARFGEF1 (Q1484H +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3128361	NM_006421.5(ARFGEF1):c.4384A>G (p.Ile1462Val)	ARFGEF1 (I1460V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3128360	NM_006421.5(ARFGEF1):c.3944C>T (p.Ala1315Val)	ARFGEF1 (A1115V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3128359	NM_006421.5(ARFGEF1):c.3772C>T (p.Arg1258Trp)	ARFGEF1 (R783W +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3128358	NM_006421.5(ARFGEF1):c.3727A>G (p.Ile1243Val)	ARFGEF1 (I1241V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3128357	NM_006421.5(ARFGEF1):c.320T>C (p.Ile107Thr)	ARFGEF1 (I107T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3128356	NM_006421.5(ARFGEF1):c.2644A>G (p.Ile882Val)	ARFGEF1 (I407V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3128354	NM_006421.5(ARFGEF1):c.1983A>C (p.Arg661Ser)	ARFGEF1 (R461S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3128353	NM_006421.5(ARFGEF1):c.178G>A (p.Ala60Thr)	ARFGEF1 (A60T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3128352	NM_006421.5(ARFGEF1):c.1193A>G (p.Asn398Ser)	ARFGEF1 (N198S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3078353	NM_001382391.1(CSPP1):c.3172A>G (p.Ser1058Gly)	ARFGEF1, CSPP1 (S966G +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3075966	NM_006421.5(ARFGEF1):c.1203+1G>T	ARFGEF1	Single nucleotide variant (splice donor variant +1 more)	Neurodevelopmental disorder	GLikely pathogenic
Select item 3075703	NM_006421.5(ARFGEF1):c.2925_2926del (p.Cys976fs)	ARFGEF1 (C501fs +3 more)	Deletion (frameshift variant +1 more)	Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures	GPathogenic
Select item 3069057	NM_006421.5(ARFGEF1):c.312+4T>G	ARFGEF1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3069056	NC_000008.10:g.(?_68109892)_(68130374_68131665)dup	ARFGEF1	Duplication	not specified	GUncertain significance
Select item 3063035	GRCh37/hg19 8q13.1-13.2(chr8:67848148-69198213)x1	ARFGEF1, COPS5 +5 more	Copy number loss	not specified	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	ADAM18, ADAM2 +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3061997	NM_006421.5(ARFGEF1):c.3743+2T>C	ARFGEF1	Single nucleotide variant (splice donor variant)	Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures	GUncertain significance
Select item 3052236	NM_006421.5(ARFGEF1):c.37A>T (p.Thr13Ser)	ARFGEF1 (T13S)	Single nucleotide variant (missense variant +2 more)	ARFGEF1-related disorder	GUncertain significance
Select item 3033839	NM_006421.5(ARFGEF1):c.4984C>T (p.Arg1662Cys)	ARFGEF1 (R1187C +7 more)	Single nucleotide variant (missense variant +1 more)	ARFGEF1-related disorder	GLikely benign
Select item 3033308	NM_006421.5(ARFGEF1):c.1275A>G (p.Leu425=)	ARFGEF1	Single nucleotide variant (synonymous variant +2 more)	ARFGEF1-related disorder +1 more	GLikely benign
Select item 3030703	NM_006421.5(ARFGEF1):c.5350T>C (p.Phe1784Leu)	ARFGEF1 (F1309L +7 more)	Single nucleotide variant (missense variant +1 more)	ARFGEF1-related disorder	GUncertain significance
Select item 3027226	NM_006421.5(ARFGEF1):c.3289+1G>A	ARFGEF1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 3017842	NM_006421.5(ARFGEF1):c.4357A>G (p.Thr1453Ala)	ARFGEF1 (T1253A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2985400	NM_001382391.1(CSPP1):c.3222G>T (p.Gly1074=)	ARFGEF1, CSPP1	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 21	GLikely benign
Select item 2981340	NM_001382391.1(CSPP1):c.3470-16C>T	ARFGEF1, CSPP1	Single nucleotide variant (intron variant)	Joubert syndrome 21	GLikely benign
Select item 2921125	NM_006421.5(ARFGEF1):c.3305A>G (p.Asp1102Gly)	ARFGEF1 (D902G +3 more)	Single nucleotide variant (missense variant +1 more)	Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures	GUncertain significance
Select item 2921040	NM_006421.5(ARFGEF1):c.3718T>G (p.Phe1240Val)	ARFGEF1 (F1040V +3 more)	Single nucleotide variant (missense variant +1 more)	Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures	GUncertain significance
Select item 2920718	NM_006421.5(ARFGEF1):c.398C>T (p.Thr133Ile)	ARFGEF1 (T133I)	Single nucleotide variant (missense variant +2 more)	Developmental disorder	GUncertain significance
Select item 2904162	NM_001382391.1(CSPP1):c.3525C>T (p.Asp1175=)	ARFGEF1, CSPP1	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 21	GLikely benign
Select item 2888195	NM_001382391.1(CSPP1):c.3143G>A (p.Arg1048Gln)	ARFGEF1, CSPP1 (R1021Q +7 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 21	GUncertain significance
Select item 2845141	NM_001382391.1(CSPP1):c.3660C>A (p.Gly1220=)	ARFGEF1, CSPP1	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 21	GLikely benign
Select item 2842627	NM_001382391.1(CSPP1):c.3221-10G>A	ARFGEF1, CSPP1	Single nucleotide variant (intron variant)	Joubert syndrome 21	GLikely benign
Select item 2839571	NM_001382391.1(CSPP1):c.3126C>T (p.Ile1042=)	ARFGEF1, CSPP1	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 21	GLikely benign
Select item 2815446	NM_001382391.1(CSPP1):c.3220+8T>C	ARFGEF1, CSPP1	Single nucleotide variant (intron variant)	Joubert syndrome 21	GLikely benign
Select item 2813581	NM_001382391.1(CSPP1):c.3330+13C>A	ARFGEF1, CSPP1	Single nucleotide variant (intron variant)	Joubert syndrome 21	GLikely benign
Select item 2798588	NM_001382391.1(CSPP1):c.3395T>C (p.Val1132Ala)	ARFGEF1, CSPP1 (V1127A +7 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 21	GUncertain significance
Select item 2791249	NM_001382391.1(CSPP1):c.3330+13C>T	ARFGEF1, CSPP1	Single nucleotide variant (intron variant)	Joubert syndrome 21	GLikely benign
Select item 2791166	NM_001382391.1(CSPP1):c.2969-8T>A	ARFGEF1, CSPP1	Single nucleotide variant (3 prime UTR variant +1 more)	Joubert syndrome 21	GLikely benign
Select item 2784876	NM_001382391.1(CSPP1):c.3470-20G>A	ARFGEF1, CSPP1	Single nucleotide variant (intron variant)	Joubert syndrome 21	GLikely benign
Select item 2750545	NM_001382391.1(CSPP1):c.3273A>G (p.Pro1091=)	ARFGEF1, CSPP1	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 21	GLikely benign
Select item 2750322	NM_001382391.1(CSPP1):c.3454A>G (p.Lys1152Glu)	ARFGEF1, CSPP1 (K1125E +7 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 21	GUncertain significance
Select item 2739525	NM_001382391.1(CSPP1):c.3470-4G>A	ARFGEF1, CSPP1	Single nucleotide variant (intron variant)	Joubert syndrome 21	GLikely benign
Select item 2702124	NM_001382391.1(CSPP1):c.3135T>C (p.Ala1045=)	ARFGEF1, CSPP1	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 21	GLikely benign
Select item 2691370	NM_006421.5(ARFGEF1):c.3212G>A (p.Gly1071Glu)	ARFGEF1 (G1069E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2688589	NM_006421.5(ARFGEF1):c.1118A>G (p.Asn373Ser)	ARFGEF1 (N173S +1 more)	Single nucleotide variant (missense variant +2 more)	Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures	GUncertain significance
Select item 2673150	NM_006421.5(ARFGEF1):c.4831_4832del (p.Gln1611fs)	ARFGEF1 (Q1136fs +5 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2665015	NM_006421.5(ARFGEF1):c.4156C>G (p.Leu1386Val)	ARFGEF1 (L1186V +3 more)	Single nucleotide variant (missense variant +2 more)	Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures	GUncertain significance
Select item 2664990	NM_006421.5(ARFGEF1):c.996_1005del (p.Val333fs)	ARFGEF1 (V133fs +1 more)	Deletion (frameshift variant +2 more)	Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures	GLikely pathogenic
Select item 2663110	NM_006421.5(ARFGEF1):c.1922-2A>G	ARFGEF1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2662301	NM_006421.5(ARFGEF1):c.2743A>G (p.Met915Val)	ARFGEF1 (M440V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2658640	NM_006421.5(ARFGEF1):c.1865G>A (p.Cys622Tyr)	ARFGEF1 (C147Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2658639	NM_006421.5(ARFGEF1):c.3474G>A (p.Thr1158=)	ARFGEF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2658638	NM_006421.5(ARFGEF1):c.3978T>C (p.Cys1326=)	ARFGEF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2658637	NM_006421.5(ARFGEF1):c.4907T>C (p.Phe1636Ser)	ARFGEF1 (F1161S +5 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2632330	NM_006421.5(ARFGEF1):c.3699_3705del (p.Gln1233fs)	ARFGEF1 (Q1033fs +3 more)	Deletion (frameshift variant +1 more)	ARFGEF1-related disorder	GLikely pathogenic
Select item 2630940	NM_006421.5(ARFGEF1):c.2857T>G (p.Trp953Gly)	ARFGEF1 (W478G +3 more)	Single nucleotide variant (missense variant +1 more)	ARFGEF1-related disorder	GUncertain significance
Select item 2629614	NM_006421.5(ARFGEF1):c.5486G>A (p.Arg1829Gln)	ARFGEF1 (R1354Q +6 more)	Single nucleotide variant (missense variant +2 more)	ARFGEF1-related disorder	GUncertain significance
Select item 2627922	NM_006421.5(ARFGEF1):c.4627C>T (p.Arg1543Ter)	ARFGEF1 (R1068* +3 more)	Single nucleotide variant (nonsense +1 more)	Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures	GPathogenic
Select item 2627909	NM_006421.5(ARFGEF1):c.1337+1G>C	ARFGEF1	Single nucleotide variant (splice donor variant +1 more)	Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures	GLikely pathogenic
Select item 2626932	NM_006421.5(ARFGEF1):c.3752C>T (p.Thr1251Ile)	ARFGEF1 (T1051I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2626906	NM_006421.5(ARFGEF1):c.3182del (p.Gly1061fs)	ARFGEF1 (G1059fs +3 more)	Deletion (frameshift variant +1 more)	Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures	GLikely pathogenic
Select item 2624312	NM_006421.5(ARFGEF1):c.4554A>T (p.Glu1518Asp)	ARFGEF1 (E1318D +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2616872	NM_006421.5(ARFGEF1):c.3814C>T (p.Arg1272Ter)	ARFGEF1 (R1270* +3 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GPathogenic
Select item 2613276	NM_006421.5(ARFGEF1):c.761T>C (p.Val254Ala)	ARFGEF1 (V54A +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2610334	NM_006421.5(ARFGEF1):c.1496A>G (p.Glu499Gly)	ARFGEF1 (E299G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2605316	NM_006421.5(ARFGEF1):c.3418A>G (p.Ile1140Val)	ARFGEF1 (I1138V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2605239	NM_006421.5(ARFGEF1):c.1031T>C (p.Met344Thr)	ARFGEF1 (M144T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2597753	NM_006421.5(ARFGEF1):c.1010T>C (p.Val337Ala)	ARFGEF1 (V137A +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2593692	NM_006421.5(ARFGEF1):c.38C>T (p.Thr13Ile)	ARFGEF1 (T13I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2591624	NM_006421.5(ARFGEF1):c.5164C>T (p.Gln1722Ter)	ARFGEF1 (Q1722* +7 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GPathogenic
Select item 2582448	NM_006421.5(ARFGEF1):c.1853C>T (p.Ser618Leu)	ARFGEF1 (S143L +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures	GUncertain significance
Select item 2582028	NM_006421.5(ARFGEF1):c.287T>A (p.Val96Asp)	ARFGEF1 (V96D)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2581167	NM_006421.5(ARFGEF1):c.1303A>G (p.Met435Val)	ARFGEF1 (M235V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2574377	NM_006421.5(ARFGEF1):c.5549G>T (p.Ter1850Leu)	ARFGEF1	Single nucleotide variant (stop lost +2 more)	not provided	GUncertain significance
Select item 2572501	NM_006421.5(ARFGEF1):c.2699-1G>T	ARFGEF1	Single nucleotide variant (splice acceptor variant +1 more)	Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures	GLikely pathogenic
Select item 2571908	NM_006421.5(ARFGEF1):c.2482G>A (p.Ala828Thr)	ARFGEF1 (A353T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2557079	NM_006421.5(ARFGEF1):c.4790A>G (p.Glu1597Gly)	ARFGEF1 (E1595G +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2554969	NM_006421.5(ARFGEF1):c.4667C>T (p.Pro1556Leu)	ARFGEF1 (P1554L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2554287	NM_001382391.1(CSPP1):c.3464A>G (p.Asn1155Ser)	ARFGEF1, CSPP1 (N1150S +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2546027	NM_001382391.1(CSPP1):c.3425G>C (p.Arg1142Pro)	ARFGEF1, CSPP1 (R1142P +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2537584	NM_006421.5(ARFGEF1):c.1739A>C (p.Glu580Ala)	ARFGEF1 (E105A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2530120	NM_001382391.1(CSPP1):c.3461T>C (p.Ile1154Thr)	ARFGEF1, CSPP1 (I1089T +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2527774	NM_006421.5(ARFGEF1):c.4586A>C (p.Asp1529Ala)	ARFGEF1 (D1527A +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2523912	NM_006421.5(ARFGEF1):c.4574A>G (p.Asn1525Ser)	ARFGEF1 (N1050S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2506326	NC_000008.10:g.(?_68109883)_(68255913_?)del	ARFGEF1	Deletion	Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures	GPathogenic
Select item 2505196	NM_006421.5(ARFGEF1):c.209C>G (p.Ser70Ter)	ARFGEF1 (S70*)	Single nucleotide variant (nonsense +2 more)	Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures	GLikely pathogenic
Select item 2504534	NM_006421.5(ARFGEF1):c.3151A>T (p.Ile1051Phe)	ARFGEF1 (I1049F +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2501955	NM_001382391.1(CSPP1):c.2969-3C>G	ARFGEF1, CSPP1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2501177	NC_000008.10:g.(68115487_68116914)_(68130374_68131665)del	ARFGEF1	Deletion	not specified	GUncertain significance
Select item 2500329	NM_006421.5(ARFGEF1):c.2851-1G>T	ARFGEF1	Single nucleotide variant (splice acceptor variant)	Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures	GLikely pathogenic
Select item 2499428	NM_001382391.1(CSPP1):c.3586C>T (p.Arg1196Cys)	ARFGEF1, CSPP1 (R1104C +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2495209	NM_006421.5(ARFGEF1):c.3054G>C (p.Met1018Ile)	ARFGEF1 (M543I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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