"GeneDx"[submitter] AND "CSPP1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 152916	GRCh38/hg38 8q13.1-13.2(chr8:66968881-67271875)x3	ARFGEF1, COPS5 +4 more	Copy number gain	See cases	GUncertain significance
Select item 1259932	NC_000008.11:g.67064144C>G	CSPP1	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1212697	NC_000008.11:g.67064342C>T	CSPP1	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 1205527	NC_000008.11:g.67064343G>A	CSPP1	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 387656	NM_024790.6(CSPP1):c.-12C>T	CSPP1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 379431	NM_001382391.1(CSPP1):c.-121A>G	CSPP1	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 21 +2 more	GBenign/Likely benign
Select item 839384	NM_001382391.1(CSPP1):c.-101A>G	CSPP1 (D17G)	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 21 +1 more	GUncertain significance
Select item 379640	NM_001382391.1(CSPP1):c.-34C>G	CSPP1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 1271555	NM_001382391.1(CSPP1):c.-30T>A	CSPP1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1287544	NM_001382391.1(CSPP1):c.-11+166dup	CSPP1	Duplication (intron variant)	not provided	GBenign
Select item 668112	NM_001382391.1(CSPP1):c.-11+236G>T	CSPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 507651	NM_001382391.1(CSPP1):c.-10-5dup	CSPP1	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 541694	NM_001382391.1(CSPP1):c.5C>T (p.Ala2Val)	CSPP1 (A38V +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21 +1 more	GConflicting classifications of pathogenicity
Select item 423240	NM_001382391.1(CSPP1):c.26T>C (p.Ile9Thr)	CSPP1 (I45T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 681050	NM_001382391.1(CSPP1):c.46T>C (p.Leu16=)	CSPP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 386180	NM_001382391.1(CSPP1):c.51C>T (p.Ala17=)	CSPP1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 575640	NM_001382391.1(CSPP1):c.59_60del (p.Lys20fs)	CSPP1 (K20fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1283129	NM_001382391.1(CSPP1):c.99+304C>A	CSPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220818	NM_001382391.1(CSPP1):c.100-150C>A	CSPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 515702	NM_001382391.1(CSPP1):c.100-13A>G	CSPP1	Single nucleotide variant (intron variant)	Joubert syndrome 21 +1 more	GBenign/Likely benign
Select item 446051	NM_001382391.1(CSPP1):c.104A>G (p.Lys35Arg)	CSPP1 (K71R +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21 +1 more	GConflicting classifications of pathogenicity
Select item 852473	NM_001382391.1(CSPP1):c.148A>G (p.Met50Val)	CSPP1 (M50V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1307275	NM_001382391.1(CSPP1):c.271T>A (p.Leu91Met)	CSPP1 (L127M +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1210941	NM_001382391.1(CSPP1):c.303+120G>A	CSPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193462	NM_001382391.1(CSPP1):c.303+290A>G	CSPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1305120	NM_001382391.1(CSPP1):c.400G>C (p.Glu134Gln)	CSPP1 (E107Q +3 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 450360	NM_001382391.1(CSPP1):c.430_431del (p.Arg144fs)	CSPP1 (R117fs +3 more)	Deletion (frameshift variant +1 more)	Joubert syndrome 21 +1 more	GPathogenic
Select item 1188499	NM_001382391.1(CSPP1):c.484-274G>A	CSPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 674986	NM_001382391.1(CSPP1):c.484-87G>A	CSPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 668430	NM_001382391.1(CSPP1):c.484-15T>G	CSPP1	Single nucleotide variant (intron variant)	Joubert syndrome 21 +1 more	GBenign/Likely benign
Select item 707531	NM_001382391.1(CSPP1):c.632G>T (p.Arg211Leu)	CSPP1 (R211L +3 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 21 +1 more	GLikely benign
Select item 1313807	NM_001382391.1(CSPP1):c.758C>T (p.Ala253Val)	CSPP1 (A226V +3 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1000136	NM_001382391.1(CSPP1):c.769G>T (p.Asp257Tyr)	CSPP1 (D230Y +3 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 21 +1 more	GUncertain significance
Select item 423591	NM_001382391.1(CSPP1):c.814C>T (p.Arg272Trp)	CSPP1 (R281W +3 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2499364	NM_001382391.1(CSPP1):c.922A>G (p.Arg308Gly)	CSPP1 (R23G +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 217649	NM_001382391.1(CSPP1):c.923+1G>C	CSPP1	Single nucleotide variant (splice donor variant)	Joubert syndrome 21 +1 more	GPathogenic
Select item 675051	NM_001382391.1(CSPP1):c.923+83A>G	CSPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1165875	NM_001382391.1(CSPP1):c.924-11G>A	CSPP1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 674038	NM_001382391.1(CSPP1):c.965A>G (p.His322Arg)	CSPP1 (H322R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 1309663	NM_001382391.1(CSPP1):c.973G>A (p.Asp325Asn)	CSPP1 (D298N +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 421073	NM_001382391.1(CSPP1):c.1023-7dup	CSPP1	Duplication (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 579663	NM_001382391.1(CSPP1):c.1061A>G (p.Asp354Gly)	CSPP1 (D363G +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1197583	NM_001382391.1(CSPP1):c.1093+279G>A	CSPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1279410	NM_001382391.1(CSPP1):c.1094-152_1094-150del	CSPP1	Microsatellite (intron variant)	not provided	GBenign
Select item 217646	NM_001382391.1(CSPP1):c.1105C>T (p.Arg369Ter)	CSPP1 (R378* +5 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 289003	NM_001382391.1(CSPP1):c.1153G>T (p.Glu385Ter)	CSPP1 (E394* +5 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1202004	NM_001382391.1(CSPP1):c.1187+85G>A	CSPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188388	NM_001382391.1(CSPP1):c.1187+187dup	CSPP1	Duplication (intron variant)	not provided	GLikely benign
Select item 1236563	NM_001382391.1(CSPP1):c.1187+187del	CSPP1	Deletion (intron variant)	not provided	GBenign
Select item 1212166	NM_001382391.1(CSPP1):c.1187+187T>G	CSPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673630	NM_001382391.1(CSPP1):c.1187+274G>T	CSPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1306371	NM_001382391.1(CSPP1):c.1195G>T (p.Asp399Tyr)	CSPP1 (D114Y +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1329767	NM_001382391.1(CSPP1):c.1217C>T (p.Ala406Val)	CSPP1 (A121V +5 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21 +1 more	GUncertain significance
Select item 384856	NM_001382391.1(CSPP1):c.1218G>C (p.Ala406=)	CSPP1	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1307884	NM_001382391.1(CSPP1):c.1222G>C (p.Gly408Arg)	CSPP1 (G123R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 389323	NM_001382391.1(CSPP1):c.1245+15C>T	CSPP1	Single nucleotide variant (intron variant)	Joubert syndrome 21 +1 more	GBenign/Likely benign
Select item 672852	NM_001382391.1(CSPP1):c.1245+197A>G	CSPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 939988	NM_001382391.1(CSPP1):c.1359A>C (p.Arg453Ser)	CSPP1 (R453S +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 506852	NM_001382391.1(CSPP1):c.1391C>G (p.Ser464Cys)	CSPP1 (S459C +7 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21 +1 more	GBenign/Likely benign
Select item 1091705	NM_001382391.1(CSPP1):c.1470C>T (p.Ser490=)	CSPP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1221835	NM_001382391.1(CSPP1):c.1496+131A>G	CSPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1695828	NM_001382391.1(CSPP1):c.1576T>A (p.Phe526Ile)	CSPP1 (F227I +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1309626	NM_001382391.1(CSPP1):c.1600G>A (p.Asp534Asn)	CSPP1 (D235N +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 422711	NM_001382391.1(CSPP1):c.1619-15_1619-8del	CSPP1	Microsatellite (intron variant)	not specified	GLikely benign
Select item 842446	NM_001382391.1(CSPP1):c.1643A>C (p.Gln548Pro)	CSPP1 (Q543P +7 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21 +1 more	GUncertain significance
Select item 1311830	NM_001382391.1(CSPP1):c.1684G>A (p.Ala562Thr)	CSPP1 (A263T +7 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21 +1 more	GUncertain significance
Select item 449196	NM_001382391.1(CSPP1):c.1693G>A (p.Val565Ile)	CSPP1 (V560I +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 679248	NM_001382391.1(CSPP1):c.1697+227C>G	CSPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673523	NM_001382391.1(CSPP1):c.1697+265T>C	CSPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675052	NM_001382391.1(CSPP1):c.1698-65C>T	CSPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2446251	NM_001382391.1(CSPP1):c.1746A>G (p.Ile582Met)	CSPP1 (I283M +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313368	NM_001382391.1(CSPP1):c.1793C>T (p.Ser598Leu)	CSPP1 (S299L +7 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21 +1 more	GUncertain significance
Select item 681380	NM_001382391.1(CSPP1):c.1798C>G (p.Gln600Glu)	CSPP1 (Q586E +7 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21 +1 more	GBenign/Likely benign
Select item 449938	NM_001382391.1(CSPP1):c.1817del (p.Leu606fs)	CSPP1 (L307fs +7 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1262964	NM_001382391.1(CSPP1):c.1827+249C>G	CSPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195271	NM_001382391.1(CSPP1):c.1828-207A>C	CSPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1292912	NM_001382391.1(CSPP1):c.1828-172A>C	CSPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204474	NM_001382391.1(CSPP1):c.1828-111del	CSPP1	Deletion (intron variant)	not provided	GLikely benign
Select item 523960	NM_001382391.1(CSPP1):c.1850_1860del (p.Arg617fs)	CSPP1 (R579fs +7 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1326680	NM_001382391.1(CSPP1):c.1957G>A (p.Ala653Thr)	CSPP1 (A354T +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1200350	NM_001382391.1(CSPP1):c.1976-298dup	CSPP1	Duplication (intron variant)	not provided	GLikely benign
Select item 674037	NM_001382391.1(CSPP1):c.1976-270A>T	CSPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1313872	NM_001382391.1(CSPP1):c.1976C>G (p.Thr659Ser)	CSPP1 (T621S +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 474852	NM_001382391.1(CSPP1):c.1977T>C (p.Thr659=)	CSPP1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 575666	NM_001382391.1(CSPP1):c.1983G>C (p.Leu661Phe)	CSPP1 (L656F +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 658221	NM_001382391.1(CSPP1):c.1987A>G (p.Arg663Gly)	CSPP1 (R685G +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1303742	NM_001382391.1(CSPP1):c.2006T>C (p.Ile669Thr)	CSPP1 (I631T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1311243	NM_001382391.1(CSPP1):c.2008G>A (p.Asp670Asn)	CSPP1 (D632N +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 423912	NM_001382391.1(CSPP1):c.2017C>A (p.His673Asn)	CSPP1 (H668N +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1277073	NM_001382391.1(CSPP1):c.2128+34_2128+36del	CSPP1	Deletion (intron variant)	Joubert syndrome 21 +1 more	GBenign
Select item 1249598	NM_001382391.1(CSPP1):c.2128+35_2128+36del	CSPP1	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1219474	NM_001382391.1(CSPP1):c.2128+33_2128+36del	CSPP1	Deletion (intron variant)	not provided	GLikely benign
Select item 1213678	NM_001382391.1(CSPP1):c.2128+32_2128+36del	CSPP1	Deletion (intron variant)	not provided	GLikely benign
Select item 402568	NM_001382391.1(CSPP1):c.2128+36del	CSPP1	Deletion (intron variant)	not provided +2 more	GBenign
Select item 1272518	NM_001382391.1(CSPP1):c.2129-260G>C	CSPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226567	NM_001382391.1(CSPP1):c.2129-96T>A	CSPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232586	NM_001382391.1(CSPP1):c.2129-95T>A	CSPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 434847	NM_001382391.1(CSPP1):c.2220C>A (p.Tyr740Ter)	CSPP1 (Y735* +7 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 672885	NM_001382391.1(CSPP1):c.2241+134C>T	CSPP1	Single nucleotide variant (intron variant)	not provided	GBenign

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