Related gene-specific medical variations for Gene (Select 10565) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3238796	NM_006421.5(ARFGEF1):c.460G>C (p.Ala154Pro)	ARFGEF1 (A154P)	Single nucleotide variant (missense variant +2 more)	Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures	GUncertain significance
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 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 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 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 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=)	CSPP1, ARFGEF1	Single nucleotide variant (intron 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	CSPP1, ARFGEF1	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 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 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 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 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 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 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 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 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 2466009	NM_001382391.1(CSPP1):c.3425G>A (p.Arg1142Gln)	ARFGEF1, CSPP1 (R1137Q +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2462271	NM_001382391.1(CSPP1):c.3530C>T (p.Ser1177Leu)	ARFGEF1, CSPP1 (S1139L +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2440589	NM_001382391.1(CSPP1):c.3641G>A (p.Gly1214Asp)	ARFGEF1, CSPP1 (G1122D +7 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21	GUncertain significance
Select item 2440588	NM_001382391.1(CSPP1):c.3330+2T>C	ARFGEF1, CSPP1	Single nucleotide variant (splice donor variant +1 more)	Joubert syndrome 21	GConflicting classifications of pathogenicity
Select item 2417139	NM_001382391.1(CSPP1):c.3331-8A>G	ARFGEF1, CSPP1	Single nucleotide variant (intron variant)	Joubert syndrome 21	GLikely benign
Select item 2416593	NM_001382391.1(CSPP1):c.3232G>C (p.Glu1078Gln)	ARFGEF1, CSPP1 (E1013Q +7 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21	GUncertain significance
Select item 2218062	NM_001382391.1(CSPP1):c.3306G>T (p.Arg1102Ser)	ARFGEF1, CSPP1 (R1010S +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2198035	NM_001382391.1(CSPP1):c.3105C>T (p.Ala1035=)	ARFGEF1, CSPP1	Single nucleotide variant (3 prime UTR variant +1 more)	Joubert syndrome 21	GLikely benign
Select item 2194122	NM_001382391.1(CSPP1):c.3289G>A (p.Ala1097Thr)	ARFGEF1, CSPP1 (A1097T +7 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21	GUncertain significance
Select item 2170015	NM_001382391.1(CSPP1):c.3330+20C>T	ARFGEF1, CSPP1	Single nucleotide variant (intron variant)	Joubert syndrome 21	GLikely benign
Select item 2167836	NM_001382391.1(CSPP1):c.3640G>T (p.Gly1214Cys)	ARFGEF1, CSPP1 (G1187C +7 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21	GUncertain significance
Select item 2166236	NM_001382391.1(CSPP1):c.2969-19A>G	ARFGEF1, CSPP1	Single nucleotide variant (3 prime UTR variant +1 more)	Joubert syndrome 21	GLikely benign
Select item 2156464	NM_001382391.1(CSPP1):c.3213T>C (p.Ala1071=)	ARFGEF1, CSPP1	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 21	GLikely benign
Select item 2156396	NM_001382391.1(CSPP1):c.3563C>T (p.Pro1188Leu)	ARFGEF1, CSPP1 (P1123L +7 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21	GUncertain significance
Select item 2154936	NM_001382391.1(CSPP1):c.3580C>T (p.Leu1194=)	ARFGEF1, CSPP1	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 21	GLikely benign
Select item 2149188	NM_001382391.1(CSPP1):c.3439A>C (p.Asn1147His)	ARFGEF1, CSPP1 (N1147H +7 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21	GUncertain significance
Select item 2134609	NM_001382391.1(CSPP1):c.3155T>C (p.Met1052Thr)	ARFGEF1, CSPP1 (M1014T +7 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21	GUncertain significance
Select item 2133868	NM_001382391.1(CSPP1):c.3652_3662del (p.Trp1218fs)	ARFGEF1, CSPP1 (W1213fs +7 more)	Deletion (frameshift variant)	Joubert syndrome 21	GUncertain significance
Select item 2128409	NM_001382391.1(CSPP1):c.3220+13_3220+16del	ARFGEF1, CSPP1	Microsatellite (intron variant)	Joubert syndrome 21	GLikely benign
Select item 2122043	NM_001382391.1(CSPP1):c.3510A>G (p.Lys1170=)	ARFGEF1, CSPP1	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 21	GLikely benign
Select item 2114957	NM_001382391.1(CSPP1):c.3469+10C>T	ARFGEF1, CSPP1	Single nucleotide variant (intron variant)	Joubert syndrome 21	GLikely benign
Select item 2102329	NM_001382391.1(CSPP1):c.3072G>C (p.Lys1024Asn)	ARFGEF1, CSPP1 (K959N +7 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Joubert syndrome 21	GUncertain significance
Select item 2100047	NM_001382391.1(CSPP1):c.3438G>C (p.Leu1146=)	ARFGEF1, CSPP1	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 21	GLikely benign
Select item 2099838	NM_001382391.1(CSPP1):c.3398A>C (p.Asp1133Ala)	ARFGEF1, CSPP1 (D1128A +7 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21	GUncertain significance
Select item 2093984	NM_001382391.1(CSPP1):c.3598G>A (p.Glu1200Lys)	ARFGEF1, CSPP1 (E1222K +7 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21	GUncertain significance
Select item 2088819	NM_001382391.1(CSPP1):c.3399T>A (p.Asp1133Glu)	ARFGEF1, CSPP1 (D1095E +7 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21	GUncertain significance
Select item 2085364	NM_001382391.1(CSPP1):c.3166G>A (p.Asp1056Asn)	ARFGEF1, CSPP1 (D1029N +7 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21	GUncertain significance
Select item 2083903	NM_001382391.1(CSPP1):c.3220+7A>G	ARFGEF1, CSPP1	Single nucleotide variant (intron variant)	Joubert syndrome 21	GUncertain significance
Select item 2068422	NM_001382391.1(CSPP1):c.3254A>G (p.Asp1085Gly)	ARFGEF1, CSPP1 (D1058G +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2062083	NM_001382391.1(CSPP1):c.3354A>G (p.Ala1118=)	ARFGEF1, CSPP1	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 21 +1 more	GLikely benign
Select item 2062062	NM_001382391.1(CSPP1):c.3283C>A (p.Pro1095Thr)	ARFGEF1, CSPP1 (P1057T +7 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21	GUncertain significance
Select item 2050204	NM_001382391.1(CSPP1):c.3660C>T (p.Gly1220=)	ARFGEF1, CSPP1	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 21	GLikely benign
Select item 2048589	NM_001382391.1(CSPP1):c.3141A>G (p.Val1047=)	ARFGEF1, CSPP1	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 21	GLikely benign
Select item 2047219	NM_001382391.1(CSPP1):c.3170C>A (p.Thr1057Asn)	ARFGEF1, CSPP1 (T1030N +7 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21	GUncertain significance
Select item 2044311	NM_001382391.1(CSPP1):c.3330+17del	ARFGEF1, CSPP1	Deletion (intron variant)	Joubert syndrome 21	GBenign
Select item 2040352	NM_001382391.1(CSPP1):c.3652T>C (p.Trp1218Arg)	CSPP1, ARFGEF1 (W1180R +7 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21	GUncertain significance
Select item 2038218	NM_001382391.1(CSPP1):c.3477_3479dup (p.Glu1159_Ser1160insArg)	ARFGEF1, CSPP1	Duplication (inframe_insertion)	Joubert syndrome 21	GUncertain significance
Select item 2038211	NM_001382391.1(CSPP1):c.3478A>C (p.Ser1160Arg)	ARFGEF1, CSPP1 (S810R +7 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21	GUncertain significance
Select item 2035454	NM_001382391.1(CSPP1):c.3221-1G>A	ARFGEF1, CSPP1	Single nucleotide variant (splice acceptor variant +1 more)	Joubert syndrome 21	GLikely pathogenic
Select item 2031495	NM_001382391.1(CSPP1):c.3639A>G (p.Pro1213=)	ARFGEF1, CSPP1	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 21	GLikely benign
Select item 2028338	NM_001382391.1(CSPP1):c.3253G>A (p.Asp1085Asn)	ARFGEF1, CSPP1 (D1080N +7 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21	GUncertain significance
Select item 2013340	NM_001382391.1(CSPP1):c.3366C>T (p.Leu1122=)	ARFGEF1, CSPP1	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 21	GLikely benign
Select item 2005785	NM_001382391.1(CSPP1):c.3622C>T (p.Gln1208Ter)	ARFGEF1, CSPP1 (Q1170* +7 more)	Single nucleotide variant (nonsense)	Joubert syndrome 21	GUncertain significance
Select item 1980648	NM_001382391.1(CSPP1):c.3221-5C>T	ARFGEF1, CSPP1	Single nucleotide variant (intron variant)	Joubert syndrome 21	GLikely benign
Select item 1978927	NM_001382391.1(CSPP1):c.3400G>A (p.Glu1134Lys)	ARFGEF1, CSPP1 (E1042K +7 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21	GUncertain significance
Select item 1971517	NM_001382391.1(CSPP1):c.3330+19T>A	ARFGEF1, CSPP1	Single nucleotide variant (intron variant)	Joubert syndrome 21	GLikely benign
Select item 1956410	NM_001382391.1(CSPP1):c.3662T>C (p.Leu1221Pro)	ARFGEF1, CSPP1 (L1216P +7 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21	GUncertain significance
Select item 1954438	NM_001382391.1(CSPP1):c.3585dup (p.Arg1196fs)	ARFGEF1, CSPP1 (R1104fs +7 more)	Duplication (frameshift variant)	Joubert syndrome 21	GUncertain significance
Select item 1952854	NM_001382391.1(CSPP1):c.3569C>T (p.Thr1190Ile)	ARFGEF1, CSPP1 (T1125I +7 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21	GUncertain significance
Select item 1945288	NM_001382391.1(CSPP1):c.3168C>T (p.Asp1056=)	ARFGEF1, CSPP1	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 21	GLikely benign
Select item 1940791	NM_001382391.1(CSPP1):c.3293G>A (p.Arg1098Gln)	ARFGEF1, CSPP1 (R1060Q +7 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21	GUncertain significance
Select item 1936142	NM_001382391.1(CSPP1):c.3470-12T>C	ARFGEF1, CSPP1	Single nucleotide variant (intron variant)	Joubert syndrome 21	GLikely benign
Select item 1933382	NM_001382391.1(CSPP1):c.3266del (p.Pro1089fs)	ARFGEF1, CSPP1 (P1024fs +7 more)	Deletion (frameshift variant)	Joubert syndrome 21	GPathogenic
Select item 1930216	NM_001382391.1(CSPP1):c.3606G>C (p.Leu1202=)	ARFGEF1, CSPP1	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 21	GLikely benign
Select item 1913579	NM_001382391.1(CSPP1):c.3525C>A (p.Asp1175Glu)	ARFGEF1, CSPP1 (D1197E +7 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21	GUncertain significance
Select item 1714015	NM_001382391.1(CSPP1):c.3437T>C (p.Leu1146Pro)	ARFGEF1, CSPP1 (L1054P +7 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21	GUncertain significance
Select item 1710751	NM_001382391.1(CSPP1):c.3140T>C (p.Val1047Ala)	ARFGEF1, CSPP1 (V1009A +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700063	NM_006421.5(ARFGEF1):c.5084del (p.Ala1695fs)	ARFGEF1 (A1695fs)	Deletion (frameshift variant)	Neurodevelopmental delay	GLikely pathogenic
Select item 1700062	NM_006421.5(ARFGEF1):c.4345G>T (p.Glu1449Ter)	ARFGEF1 (E1449*)	Single nucleotide variant (nonsense)	Neurodevelopmental delay	GLikely pathogenic
Select item 1700061	NM_006421.5(ARFGEF1):c.4146G>A (p.Trp1382Ter)	ARFGEF1 (W1382*)	Single nucleotide variant (nonsense)	Neurodevelopmental delay	GLikely pathogenic
Select item 1700060	NM_006421.5(ARFGEF1):c.4614-2A>G	ARFGEF1	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental delay	GLikely pathogenic
Select item 1693583	NM_001382391.1(CSPP1):c.3470-2A>G	ARFGEF1, CSPP1	Single nucleotide variant (splice acceptor variant +1 more)	not provided	Gnot provided
Select item 1693455	NM_001382391.1(CSPP1):c.3424C>T (p.Arg1142Ter)	ARFGEF1, CSPP1 (R1050* +7 more)	Single nucleotide variant (nonsense)	Joubert syndrome 21 +1 more	GUncertain significance
Select item 1664734	NM_001382391.1(CSPP1):c.3330+11G>A	ARFGEF1, CSPP1	Single nucleotide variant (intron variant)	Joubert syndrome 21	GLikely benign
Select item 1661299	NM_001382391.1(CSPP1):c.3435A>G (p.Arg1145=)	ARFGEF1, CSPP1	Single nucleotide variant (synonymous variant)	Joubert syndrome 21	GLikely benign
Select item 1655773	NM_001382391.1(CSPP1):c.3157-19del	ARFGEF1, CSPP1	Deletion (intron variant)	Joubert syndrome 21	GLikely benign
Select item 1653569	NM_001382391.1(CSPP1):c.3110-7A>G	ARFGEF1, CSPP1	Single nucleotide variant (intron variant)	Joubert syndrome 21	GLikely benign
Select item 1620022	NM_001382391.1(CSPP1):c.3528A>C (p.Gly1176=)	ARFGEF1, CSPP1	Single nucleotide variant (synonymous variant)	Joubert syndrome 21	GLikely benign

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