10565[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC130000015, LOC130000016 +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	DEFA1B, DEFA3 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	LOC110121192, LOC110121196 +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	AARD, ABRA +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	LOC130000067, LOC130000068 +3656 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	GPAT4, GPAT4-AS1 +3106 more	Copy number gain	See cases	GPathogenic
Select item 144238	GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3	LOC130000405, LOC130000406 +489 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC130000897, LOC130000898 +1960 more	Copy number gain	See cases	GPathogenic
Select item 59787	GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3	SNHG6, SNORD87 +421 more	Copy number gain	See cases	GPathogenic
Select item 59788	GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3	ADHFE1, ARFGEF1 +417 more	Copy number gain	See cases	GPathogenic
Select item 60364	GRCh38/hg38 8q12.3-21.11(chr8:62230636-73227786)x1	ADHFE1, ARFGEF1 +228 more	Copy number loss	See cases	GPathogenic
Select item 147946	GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3	LOC130000722, LOC130000723 +470 more	Copy number gain	See cases	GPathogenic
Select item 148965	GRCh38/hg38 8q13.1-21.13(chr8:66633845-80100089)x3	ARFGEF1, ARFGEF1-DT +245 more	Copy number gain	See cases	GPathogenic
Select item 152916	GRCh38/hg38 8q13.1-13.2(chr8:66968881-67271875)x3	ARFGEF1, COPS5 +4 more	Copy number gain	See cases	GUncertain significance
Select item 583877	NC_000008.10:g.(?_68024187)_(68107848_?)dup	ARFGEF1, CSPP1	Duplication	Joubert syndrome 21	GUncertain significance
Select item 1270546	NM_001382391.1(CSPP1):c.2969-252A>G	ARFGEF1, CSPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1210907	NM_001382391.1(CSPP1):c.2969-113A>G	ARFGEF1, CSPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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 1069030	NM_001382391.1(CSPP1):c.2980C>T (p.Arg994Ter)	ARFGEF1, CSPP1 (R1016* +7 more)	Single nucleotide variant (nonsense)	Joubert syndrome 21	GPathogenic
Select item 939297	NM_001382391.1(CSPP1):c.2981G>A (p.Arg994Gln)	ARFGEF1, CSPP1 (R929Q +7 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21 +1 more	GUncertain significance
Select item 1382016	NM_001382391.1(CSPP1):c.2986G>A (p.Asp996Asn)	ARFGEF1, CSPP1 (D646N +7 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21	GUncertain significance
Select item 844123	NM_001382391.1(CSPP1):c.2987A>C (p.Asp996Ala)	ARFGEF1, CSPP1 (D931A +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 855151	NM_001382391.1(CSPP1):c.3011C>T (p.Pro1004Leu)	ARFGEF1, CSPP1 (P939L +7 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21	GUncertain significance
Select item 1548670	NM_001382391.1(CSPP1):c.3015A>C (p.Pro1005=)	ARFGEF1, CSPP1	Single nucleotide variant (synonymous variant)	Joubert syndrome 21	GLikely benign
Select item 1353651	NM_001382391.1(CSPP1):c.3029C>T (p.Thr1010Ile)	ARFGEF1, CSPP1 (T1010I +7 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21	GUncertain significance
Select item 937240	NM_001382391.1(CSPP1):c.3029C>G (p.Thr1010Ser)	ARFGEF1, CSPP1 (T1005S +7 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21 +1 more	GUncertain significance
Select item 1055156	NM_001382391.1(CSPP1):c.3040C>G (p.Gln1014Glu)	ARFGEF1, CSPP1 (Q1009E +7 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21	GUncertain significance
Select item 1037109	NM_001382391.1(CSPP1):c.3040C>A (p.Gln1014Lys)	ARFGEF1, CSPP1 (Q1036K +7 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21	GUncertain significance
Select item 968324	NM_001382391.1(CSPP1):c.3050C>T (p.Ala1017Val)	ARFGEF1, CSPP1 (A1012V +7 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21	GUncertain significance
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 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 850162	NM_001382391.1(CSPP1):c.3106A>G (p.Lys1036Glu)	ARFGEF1, CSPP1 (K1009E +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 834148	NM_001382391.1(CSPP1):c.3109G>A (p.Val1037Ile)	ARFGEF1, CSPP1 (V945I +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1463089	NM_001382391.1(CSPP1):c.3109+4dup	ARFGEF1, CSPP1	Duplication (intron variant)	Joubert syndrome 21	GUncertain significance
Select item 1056827	NM_001382391.1(CSPP1):c.3109+5G>C	ARFGEF1, CSPP1	Single nucleotide variant (intron variant)	Joubert syndrome 21	GUncertain significance
Select item 507370	NM_001382391.1(CSPP1):c.3109+18C>T	ARFGEF1, CSPP1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1541980	NM_001382391.1(CSPP1):c.3109+20G>A	CSPP1, ARFGEF1	Single nucleotide variant (intron variant)	Joubert syndrome 21	GLikely benign
Select item 1204813	NM_001382391.1(CSPP1):c.3109+39C>T	ARFGEF1, CSPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 516532	NM_001382391.1(CSPP1):c.3110-11A>G	CSPP1, ARFGEF1	Single nucleotide variant (intron variant)	Joubert syndrome 21 +1 more	GBenign
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 422290	NM_001382391.1(CSPP1):c.3110-1G>A	ARFGEF1, CSPP1	Single nucleotide variant (splice acceptor variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 1416011	NM_001382391.1(CSPP1):c.3124A>G (p.Ile1042Val)	ARFGEF1, CSPP1 (I1064V +7 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21 +1 more	GUncertain significance
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 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 379767	NM_001382391.1(CSPP1):c.3138A>G (p.Lys1046=)	CSPP1, ARFGEF1	Single nucleotide variant (synonymous variant)	Joubert syndrome 21 +1 more	GBenign
Select item 1417393	NM_001382391.1(CSPP1):c.3139G>C (p.Val1047Leu)	ARFGEF1, CSPP1 (V1020L +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 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 1322167	NM_001382391.1(CSPP1):c.3142C>T (p.Arg1048Ter)	ARFGEF1, CSPP1 (R1010* +7 more)	Single nucleotide variant (nonsense)	Joubert syndrome 21	GPathogenic
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 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 971153	NM_001382391.1(CSPP1):c.3156+6C>T	ARFGEF1, CSPP1	Single nucleotide variant (intron variant)	Joubert syndrome 21 +1 more	GUncertain significance
Select item 1110535	NM_001382391.1(CSPP1):c.3156+16C>A	ARFGEF1, CSPP1	Single nucleotide variant (intron 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 1612466	NM_001382391.1(CSPP1):c.3157-16A>G	ARFGEF1, CSPP1	Single nucleotide variant (intron variant)	Joubert syndrome 21	GLikely benign
Select item 1138962	NM_001382391.1(CSPP1):c.3157-15A>G	ARFGEF1, CSPP1	Single nucleotide variant (intron variant)	Joubert syndrome 21	GLikely benign
Select item 1608863	NM_001382391.1(CSPP1):c.3157-7C>T	ARFGEF1, CSPP1	Single nucleotide variant (intron variant)	Joubert syndrome 21	GLikely benign
Select item 861929	NM_001382391.1(CSPP1):c.3157C>T (p.Pro1053Ser)	ARFGEF1, CSPP1 (P1015S +7 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21 +1 more	GUncertain significance
Select item 1378091	NM_001382391.1(CSPP1):c.3163G>C (p.Asp1055His)	ARFGEF1, CSPP1 (D1050H +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 434844	NM_001382391.1(CSPP1):c.3165T>C (p.Asp1055=)	ARFGEF1, CSPP1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
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 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 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 860310	NM_001382391.1(CSPP1):c.3188A>G (p.Asn1063Ser)	ARFGEF1, CSPP1 (N1025S +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
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 217645	NM_001382391.1(CSPP1):c.3220+1G>A	ARFGEF1, CSPP1	Single nucleotide variant (splice donor variant +1 more)	Joubert syndrome 21	GPathogenic
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 2815446	NM_001382391.1(CSPP1):c.3220+8T>C	ARFGEF1, CSPP1	Single nucleotide variant (intron variant)	Joubert syndrome 21	GLikely benign
Select item 2128409	NM_001382391.1(CSPP1):c.3220+13_3220+16del	ARFGEF1, CSPP1	Microsatellite (intron variant)	Joubert syndrome 21	GLikely benign
Select item 380565	NM_001382391.1(CSPP1):c.3220+13A>G	ARFGEF1, CSPP1	Single nucleotide variant (intron variant)	Joubert syndrome 21 +1 more	GBenign
Select item 1276987	NM_001382391.1(CSPP1):c.3220+110dup	ARFGEF1, CSPP1	Duplication (intron variant)	not provided	GBenign
Select item 1230143	NM_001382391.1(CSPP1):c.3220+108_3220+110del	ARFGEF1, CSPP1	Deletion (intron variant)	not provided	GBenign
Select item 1288861	NM_001382391.1(CSPP1):c.3221-272A>G	ARFGEF1, CSPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191021	NM_001382391.1(CSPP1):c.3221-254G>C	ARFGEF1, CSPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208924	NM_001382391.1(CSPP1):c.3221-138G>A	ARFGEF1, CSPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 511950	NM_001382391.1(CSPP1):c.3221-19C>T	ARFGEF1, CSPP1	Single nucleotide variant (intron variant)	Joubert syndrome 21 +1 more	GLikely benign
Select item 1582197	NM_001382391.1(CSPP1):c.3221-14C>T	ARFGEF1, CSPP1	Single nucleotide variant (intron variant)	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 1462374	NM_001382391.1(CSPP1):c.3221-9T>A	ARFGEF1, CSPP1	Single nucleotide variant (intron variant)	Joubert syndrome 21	GLikely benign
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 591747	NM_001382391.1(CSPP1):c.3221-2A>G	ARFGEF1, CSPP1	Single nucleotide variant (splice acceptor variant +1 more)	not provided	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 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 100669	NM_001382391.1(CSPP1):c.3227dup (p.Tyr1076Ter)	ARFGEF1, CSPP1 (Y1038* +7 more)	Duplication (nonsense)	Joubert syndrome 21	GPathogenic
Select item 1566015	NM_001382391.1(CSPP1):c.3228C>T (p.Tyr1076=)	ARFGEF1, CSPP1	Single nucleotide variant (synonymous variant)	Joubert syndrome 21	GLikely benign
Select item 1339044	NM_001382391.1(CSPP1):c.3229G>A (p.Gly1077Ser)	ARFGEF1, CSPP1 (G1012S +7 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21	GUncertain significance
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 1372094	NM_001382391.1(CSPP1):c.3236C>T (p.Thr1079Ile)	ARFGEF1, CSPP1 (T1014I +7 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21	GUncertain significance
Select item 432417	NM_001382391.1(CSPP1):c.3245C>T (p.Ala1082Val)	ARFGEF1, CSPP1 (A1077V +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 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 1109201	NM_001382391.1(CSPP1):c.3258C>T (p.Asp1086=)	ARFGEF1, CSPP1	Single nucleotide variant (synonymous variant)	CSPP1-related condition +1 more	GLikely benign
Select item 1514049	NM_001382391.1(CSPP1):c.3259G>A (p.Val1087Ile)	ARFGEF1, CSPP1 (V737I +7 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21	GUncertain significance
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 1431392	NM_001382391.1(CSPP1):c.3268C>T (p.Pro1090Ser)	ARFGEF1, CSPP1 (P1052S +7 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21	GUncertain significance
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 840138	NM_001382391.1(CSPP1):c.3275C>T (p.Ser1092Leu)	ARFGEF1, CSPP1 (S1114L +7 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21	GUncertain significance
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

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