ClinVar for Gene (Select 79848) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3269927	NM_001382391.1(CSPP1):c.-126G>C	CSPP1 (A9P)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3245535	NC_000008.10:g.(?_68061998)_(68089981_?)dup	CSPP1	Duplication	Joubert syndrome 21	GLikely pathogenic
Select item 3245534	NC_000008.10:g.(?_68102865)_(68103014_?)dup	CSPP1	Duplication	Joubert syndrome 21	GLikely pathogenic
Select item 3245533	NC_000008.10:g.(?_68024187)_(68031076_?)del	CSPP1	Deletion	Joubert syndrome 21	GPathogenic
Select item 3236408	NM_001382391.1(CSPP1):c.385-2A>G	CSPP1	Single nucleotide variant (splice acceptor variant)	Joubert syndrome 21	GLikely pathogenic
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 3078352	NM_001382391.1(CSPP1):c.2549A>G (p.Gln850Arg)	CSPP1 (Q500R +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078351	NM_001382391.1(CSPP1):c.2056G>A (p.Val686Ile)	CSPP1 (V648I +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3078350	NM_001382391.1(CSPP1):c.1769A>G (p.Asp590Gly)	CSPP1 (D563G +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068770	NC_000008.10:g.(68018211_68024206)_(68108850_?)dup	CSPP1	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	PREX2, PRKDC +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 3049862	NM_001382391.1(CSPP1):c.2079A>G (p.Leu693=)	CSPP1	Single nucleotide variant (synonymous variant +1 more)	CSPP1-related disorder	GLikely benign
Select item 3035177	NM_001382391.1(CSPP1):c.337T>C (p.Ser113Pro)	CSPP1 (S113P +1 more)	Single nucleotide variant (missense variant +1 more)	CSPP1-related disorder	GLikely benign
Select item 3029911	NM_001382391.1(CSPP1):c.1022+9T>C	CSPP1	Single nucleotide variant (intron variant)	CSPP1-related disorder	GLikely benign
Select item 3026497	NM_001382391.1(CSPP1):c.-10-4542C>T	CSPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022124	NM_001382391.1(CSPP1):c.1619-13T>C	CSPP1	Single nucleotide variant (intron variant)	Joubert syndrome 21	GLikely benign
Select item 3018196	NM_001382391.1(CSPP1):c.200-13del	CSPP1	Deletion (intron variant)	Joubert syndrome 21	GLikely benign
Select item 3016163	NM_001382391.1(CSPP1):c.1245G>T (p.Ser415=)	CSPP1	Single nucleotide variant (synonymous variant)	Joubert syndrome 21	GUncertain significance
Select item 3015721	NM_001382391.1(CSPP1):c.2082C>T (p.Ala694=)	CSPP1	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 21	GLikely benign
Select item 3014607	NM_001382391.1(CSPP1):c.30A>G (p.Glu10=)	CSPP1	Single nucleotide variant (synonymous variant)	Joubert syndrome 21	GLikely benign
Select item 3011368	NM_001382391.1(CSPP1):c.2526G>A (p.Gly842=)	CSPP1	Single nucleotide variant (synonymous variant)	Joubert syndrome 21	GLikely benign
Select item 3007208	NM_001382391.1(CSPP1):c.2741C>G (p.Ser914Ter)	CSPP1 (S564* +7 more)	Single nucleotide variant (nonsense)	Joubert syndrome 21	GPathogenic
Select item 2991880	NM_001382391.1(CSPP1):c.741A>G (p.Gln247=)	CSPP1	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 21	GLikely benign
Select item 2991607	NM_001382391.1(CSPP1):c.930C>T (p.His310=)	CSPP1	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 21	GLikely benign
Select item 2987736	NM_001382391.1(CSPP1):c.390G>T (p.Arg130Ser)	CSPP1 (R130S +3 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 21	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 2984323	NM_001382391.1(CSPP1):c.-10-1G>T	CSPP1	Single nucleotide variant (splice acceptor variant)	Joubert syndrome 21	GLikely pathogenic
Select item 2982898	NM_001382391.1(CSPP1):c.768A>G (p.Pro256=)	CSPP1	Single nucleotide variant (5 prime UTR 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 2954610	NM_001382391.1(CSPP1):c.-10-20A>G	CSPP1	Single nucleotide variant (intron variant)	Joubert syndrome 21	GLikely benign
Select item 2914860	NM_001382391.1(CSPP1):c.2711-13T>C	CSPP1	Single nucleotide variant (intron variant)	Joubert syndrome 21	GLikely benign
Select item 2913992	NM_001382391.1(CSPP1):c.2855T>C (p.Ile952Thr)	CSPP1 (I914T +7 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21	GUncertain significance
Select item 2909790	NM_001382391.1(CSPP1):c.1288-12T>C	CSPP1	Single nucleotide variant (intron variant)	Joubert syndrome 21	GLikely benign
Select item 2906125	NM_001382391.1(CSPP1):c.2644-11T>C	CSPP1	Single nucleotide variant (intron variant)	Joubert syndrome 21	GLikely benign
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 2897889	NM_001382391.1(CSPP1):c.2205del (p.Lys735fs)	CSPP1 (K643fs +7 more)	Deletion (frameshift variant)	Joubert syndrome 21	GPathogenic
Select item 2897885	NM_001382391.1(CSPP1):c.2201T>A (p.Ile734Asn)	CSPP1 (I642N +7 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21	GUncertain significance
Select item 2896493	NM_001382391.1(CSPP1):c.2829-8A>G	CSPP1	Single nucleotide variant (intron variant)	Joubert syndrome 21	GLikely benign
Select item 2890582	NM_001382391.1(CSPP1):c.252A>G (p.Lys84=)	CSPP1	Single nucleotide variant (5 prime UTR 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 2886552	NM_001382391.1(CSPP1):c.2499C>T (p.His833=)	CSPP1	Single nucleotide variant (synonymous variant)	Joubert syndrome 21	GLikely benign
Select item 2882511	NM_001382391.1(CSPP1):c.2643+16T>A	CSPP1	Single nucleotide variant (intron variant)	Joubert syndrome 21	GLikely benign
Select item 2880072	NM_001382391.1(CSPP1):c.818A>G (p.Tyr273Cys)	CSPP1 (Y282C +3 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 21	GUncertain significance
Select item 2865036	NM_001382391.1(CSPP1):c.-74G>A	CSPP1 (R26Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 21	GUncertain significance
Select item 2864520	NM_001382391.1(CSPP1):c.2584del (p.Ile862fs)	CSPP1 (I862fs +7 more)	Deletion (frameshift variant)	Joubert syndrome 21	GPathogenic
Select item 2862327	NM_001382391.1(CSPP1):c.2206C>T (p.Gln736Ter)	CSPP1 (Q386* +7 more)	Single nucleotide variant (nonsense)	Joubert syndrome 21	GPathogenic
Select item 2860389	NM_001382391.1(CSPP1):c.853G>T (p.Glu285Ter)	CSPP1 (E258* +3 more)	Single nucleotide variant (nonsense +1 more)	Joubert syndrome 21	GPathogenic
Select item 2858013	NM_001382391.1(CSPP1):c.1023-14C>T	CSPP1	Single nucleotide variant (intron variant)	Joubert syndrome 21	GLikely benign
Select item 2857965	NM_001382391.1(CSPP1):c.1698-12T>C	CSPP1	Single nucleotide variant (intron variant)	Joubert syndrome 21	GLikely benign
Select item 2856297	NM_001382391.1(CSPP1):c.1697+5_1697+16dup	CSPP1	Duplication (splice donor variant)	Joubert syndrome 21	GLikely benign
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 2843957	NM_001382391.1(CSPP1):c.2739A>G (p.Leu913=)	CSPP1	Single nucleotide variant (synonymous 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 2840021	NM_001382391.1(CSPP1):c.1022+1G>C	CSPP1	Single nucleotide variant (splice donor variant +1 more)	Joubert syndrome 21	GLikely pathogenic
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 2834691	NM_001382391.1(CSPP1):c.2388G>A (p.Glu796=)	CSPP1	Single nucleotide variant (synonymous variant)	Joubert syndrome 21	GLikely benign
Select item 2832608	NM_001382391.1(CSPP1):c.-43A>C	CSPP1	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 21	GLikely benign
Select item 2829392	NM_001382391.1(CSPP1):c.1698-13_1698-12del	CSPP1	Microsatellite (intron variant)	Joubert syndrome 21	GLikely benign
Select item 2829182	NM_001382391.1(CSPP1):c.1749T>C (p.Asn583=)	CSPP1	Single nucleotide variant (synonymous variant)	Joubert syndrome 21	GLikely benign
Select item 2828942	NM_001382391.1(CSPP1):c.468G>C (p.Val156=)	CSPP1	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 21	GLikely benign
Select item 2822091	NM_001382391.1(CSPP1):c.2373A>G (p.Lys791=)	CSPP1	Single nucleotide variant (synonymous variant)	Joubert syndrome 21	GLikely benign
Select item 2820336	NM_001382391.1(CSPP1):c.63A>C (p.Ala21=)	CSPP1	Single nucleotide variant (synonymous variant)	Joubert syndrome 21	GLikely benign
Select item 2818816	NM_001382391.1(CSPP1):c.483+2T>A	CSPP1	Single nucleotide variant (splice donor variant)	Joubert syndrome 21	GLikely pathogenic
Select item 2818330	NM_001382391.1(CSPP1):c.486C>A (p.Pro162=)	CSPP1	Single nucleotide variant (5 prime UTR 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	CSPP1, ARFGEF1	Single nucleotide variant (intron variant)	Joubert syndrome 21	GLikely benign
Select item 2810114	NM_001382391.1(CSPP1):c.2372_2376del (p.Lys791fs)	CSPP1 (K441fs +7 more)	Microsatellite (frameshift variant)	Joubert syndrome 21	GPathogenic
Select item 2808633	NM_001382391.1(CSPP1):c.1704G>T (p.Thr568=)	CSPP1	Single nucleotide variant (synonymous variant)	Joubert syndrome 21	GLikely benign
Select item 2807764	NM_001382391.1(CSPP1):c.2263G>A (p.Glu755Lys)	CSPP1 (E750K +7 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21	GUncertain significance
Select item 2803716	NM_001382391.1(CSPP1):c.140dup (p.Ile48fs)	CSPP1 (I48fs +1 more)	Duplication (frameshift variant)	Joubert syndrome 21	GPathogenic
Select item 2802455	NM_001382391.1(CSPP1):c.2538+20G>A	CSPP1	Single nucleotide variant (intron variant)	Joubert syndrome 21	GLikely benign
Select item 2801508	NM_001382391.1(CSPP1):c.100-12T>C	CSPP1	Single nucleotide variant (intron variant)	Joubert syndrome 21	GLikely benign
Select item 2800257	NM_001382391.1(CSPP1):c.1698-4G>C	CSPP1	Single nucleotide variant (intron variant)	Joubert syndrome 21	GLikely benign
Select item 2799384	NM_001382391.1(CSPP1):c.2129-4C>G	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 2797359	NM_001382391.1(CSPP1):c.2703T>C (p.Arg901=)	CSPP1	Single nucleotide variant (synonymous variant)	Joubert syndrome 21	GLikely benign
Select item 2796957	NM_001382391.1(CSPP1):c.1710A>G (p.Gly570=)	CSPP1	Single nucleotide variant (synonymous variant)	Joubert syndrome 21	GLikely benign
Select item 2796399	NM_001382391.1(CSPP1):c.1960A>G (p.Lys654Glu)	CSPP1 (K616E +7 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21	GUncertain significance
Select item 2795549	NM_001382391.1(CSPP1):c.2392-8T>C	CSPP1	Single nucleotide variant (intron variant)	Joubert syndrome 21	GLikely benign
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 2787929	NM_001382391.1(CSPP1):c.549G>A (p.Gln183=)	CSPP1	Single nucleotide variant (synonymous 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 2768790	NM_001382391.1(CSPP1):c.2282_2283del (p.Arg761fs)	CSPP1 (R756fs +7 more)	Microsatellite (frameshift variant)	Joubert syndrome 21	GPathogenic
Select item 2756278	NM_001382391.1(CSPP1):c.816G>A (p.Arg272=)	CSPP1	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 21	GLikely benign
Select item 2750682	NM_001382391.1(CSPP1):c.2644-15A>C	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 2742013	NM_001382391.1(CSPP1):c.2241+19A>C	CSPP1	Single nucleotide variant (intron variant)	Joubert syndrome 21	GLikely benign
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 2738175	NM_001382391.1(CSPP1):c.200-18_200-16del	CSPP1	Microsatellite (intron variant)	Joubert syndrome 21	GLikely benign
Select item 2732844	NM_001382391.1(CSPP1):c.2643+11T>C	CSPP1	Single nucleotide variant (intron variant)	Joubert syndrome 21	GLikely benign
Select item 2732370	NM_001382391.1(CSPP1):c.1187+7A>G	CSPP1	Single nucleotide variant (intron variant)	Joubert syndrome 21	GLikely benign
Select item 2732175	NM_001382391.1(CSPP1):c.2218T>C (p.Tyr740His)	CSPP1 (Y675H +7 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21	GUncertain significance
Select item 2731230	NM_001382391.1(CSPP1):c.2539-8T>A	CSPP1	Single nucleotide variant (intron variant)	Joubert syndrome 21	GLikely benign
Select item 2727506	NM_001382391.1(CSPP1):c.1618+8A>G	CSPP1	Single nucleotide variant (intron variant)	Joubert syndrome 21	GLikely benign
Select item 2724258	NM_001382391.1(CSPP1):c.750A>G (p.Ala250=)	CSPP1	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 21	GLikely benign
Select item 2720682	NM_001382391.1(CSPP1):c.2637T>C (p.Phe879=)	CSPP1	Single nucleotide variant (synonymous variant)	Joubert syndrome 21	GLikely benign

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