CSPP1[gene] - 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 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 2200172	NM_024790.6(CSPP1):c.-14_1del (p.Met1del)	CSPP1 (M1del)	Deletion (inframe_deletion +1 more)	Joubert syndrome 21	GUncertain significance
Select item 387656	NM_024790.6(CSPP1):c.-12C>T	CSPP1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 2081520	NM_001382391.1(CSPP1):c.-150A>T	CSPP1 (M1L)	Single nucleotide variant (5 prime UTR variant +2 more)	Joubert syndrome 21	GUncertain significance
Select item 1338219	NM_001382391.1(CSPP1):c.-150A>C	CSPP1 (M1L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2095395	NM_001382391.1(CSPP1):c.-149T>G	CSPP1 (M1R)	Single nucleotide variant (5 prime UTR variant +2 more)	Joubert syndrome 21	GUncertain significance
Select item 1044914	NM_001382391.1(CSPP1):c.-149T>A	CSPP1 (M1K)	Single nucleotide variant (5 prime UTR variant +2 more)	Joubert syndrome 21	GUncertain significance
Select item 2055903	NM_001382391.1(CSPP1):c.-147C>G	CSPP1 (L2V)	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 21	GUncertain significance
Select item 1439488	NM_001382391.1(CSPP1):c.-146T>A	CSPP1 (L2Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 21	GUncertain significance
Select item 1372375	NM_001382391.1(CSPP1):c.-143T>A	CSPP1 (F3Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1488784	NM_001382391.1(CSPP1):c.-142C>A	CSPP1 (F3L)	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 21	GUncertain significance
Select item 1374662	NM_001382391.1(CSPP1):c.-140C>G	CSPP1 (P4R)	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 21	GUncertain significance
Select item 1897154	NM_001382391.1(CSPP1):c.-139G>C	CSPP1	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 21	GLikely benign
Select item 2140307	NM_001382391.1(CSPP1):c.-138C>T	CSPP1 (L5F)	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 21	GUncertain significance
Select item 1429803	NM_001382391.1(CSPP1):c.-138C>A	CSPP1 (L5I)	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 21	GUncertain significance
Select item 1020179	NM_001382391.1(CSPP1):c.-128C>T	CSPP1 (A8V)	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 21	GUncertain significance
Select item 2011274	NM_001382391.1(CSPP1):c.-125C>A	CSPP1 (A9D)	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 21	GUncertain significance
Select item 2177666	NM_001382391.1(CSPP1):c.-121A>C	CSPP1	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 21	GLikely benign
Select item 379431	NM_001382391.1(CSPP1):c.-121A>G	CSPP1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 1499789	NM_001382391.1(CSPP1):c.-116C>T	CSPP1 (S12F)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1146297	NM_001382391.1(CSPP1):c.-112G>C	CSPP1	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 21	GLikely benign
Select item 1437702	NM_001382391.1(CSPP1):c.-108C>T	CSPP1 (R15C)	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 21	GUncertain significance
Select item 1531118	NM_001382391.1(CSPP1):c.-106C>T	CSPP1	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 21	GLikely benign
Select item 2129449	NM_001382391.1(CSPP1):c.-104A>G	CSPP1 (D16G)	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 21	GUncertain significance
Select item 1521565	NM_001382391.1(CSPP1):c.-104A>T	CSPP1 (D16V)	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 21	GUncertain significance
Select item 1608307	NM_001382391.1(CSPP1):c.-103C>T	CSPP1	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 21	GLikely benign
Select item 1518282	NM_001382391.1(CSPP1):c.-102G>A	CSPP1 (D17N)	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 21	GUncertain significance
Select item 839384	NM_001382391.1(CSPP1):c.-101A>G	CSPP1 (D17G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1378616	NM_001382391.1(CSPP1):c.-96C>G	CSPP1 (L19V)	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 21	GUncertain significance
Select item 1086445	NM_001382391.1(CSPP1):c.-96C>T	CSPP1	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 21	GLikely benign
Select item 1583828	NM_001382391.1(CSPP1):c.-94A>G	CSPP1	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 21	GLikely benign
Select item 1608308	NM_001382391.1(CSPP1):c.-91G>A	CSPP1	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 21	GLikely benign
Select item 1917224	NM_001382391.1(CSPP1):c.-90C>T	CSPP1 (H21Y)	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 21	GUncertain significance
Select item 1666563	NM_001382391.1(CSPP1):c.-85T>C	CSPP1	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 21	GLikely benign
Select item 1132689	NM_001382391.1(CSPP1):c.-82G>C	CSPP1	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 21	GLikely benign
Select item 1058458	NM_001382391.1(CSPP1):c.-80C>G	CSPP1 (S24C)	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 21	GUncertain significance
Select item 1095150	NM_001382391.1(CSPP1):c.-76C>T	CSPP1	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 21	GLikely benign
Select item 1019218	NM_001382391.1(CSPP1):c.-75C>T	CSPP1 (R26W)	Single nucleotide variant (5 prime UTR 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 2189601	NM_001382391.1(CSPP1):c.-73G>C	CSPP1	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 21	GLikely benign
Select item 1350495	NM_001382391.1(CSPP1):c.-69C>T	CSPP1 (R28*)	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 21	GPathogenic
Select item 1951112	NM_001382391.1(CSPP1):c.-68G>C	CSPP1 (R28P)	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 21	GUncertain significance
Select item 1474776	NM_001382391.1(CSPP1):c.-68G>A	CSPP1 (R28Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 21	GUncertain significance
Select item 1354597	NM_001382391.1(CSPP1):c.-66G>A	CSPP1 (A29T)	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 21	GUncertain significance
Select item 1964919	NM_001382391.1(CSPP1):c.-56del	CSPP1 (P32fs)	Deletion (5 prime UTR variant +1 more)	Joubert syndrome 21	GPathogenic
Select item 2154035	NM_001382391.1(CSPP1):c.-57C>G	CSPP1 (P32A)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2420528	NM_001382391.1(CSPP1):c.-54_-51del	CSPP1	Deletion (5 prime UTR variant +1 more)	Joubert syndrome 21	GLikely pathogenic
Select item 1950176	NM_001382391.1(CSPP1):c.-47A>G	CSPP1	Single nucleotide variant (intron variant +1 more)	Joubert syndrome 21	GUncertain significance
Select item 1605402	NM_001382391.1(CSPP1):c.-45_-42del	CSPP1	Deletion (5 prime UTR variant +1 more)	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 2086025	NM_001382391.1(CSPP1):c.-36C>T	CSPP1	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 21	GLikely benign
Select item 379640	NM_001382391.1(CSPP1):c.-34C>G	CSPP1	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 21 +1 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 3026497	NM_001382391.1(CSPP1):c.-10-4542C>T	CSPP1	Single nucleotide variant (intron variant)	not provided	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 507651	NM_001382391.1(CSPP1):c.-10-5dup	CSPP1	Duplication (intron variant)	Joubert syndrome 21 +1 more	GBenign/Likely benign
Select item 2719375	NM_001382391.1(CSPP1):c.-10-13T>A	CSPP1	Single nucleotide variant (intron variant)	Joubert syndrome 21	GLikely benign
Select item 2147830	NM_001382391.1(CSPP1):c.-10-5del	CSPP1	Deletion (intron variant)	Joubert syndrome 21	GBenign
Select item 1055800	NM_001382391.1(CSPP1):c.-10-5T>A	CSPP1	Single nucleotide variant (intron variant)	Joubert syndrome 21	GLikely benign
Select item 1619494	NM_001382391.1(CSPP1):c.-10-4A>T	CSPP1	Single nucleotide variant (intron variant)	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 541694	NM_001382391.1(CSPP1):c.5C>T (p.Ala2Val)	CSPP1 (A38V +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21 +1 more	GUncertain significance
Select item 767227	NM_001382391.1(CSPP1):c.6T>C (p.Ala2=)	CSPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1044255	NM_001382391.1(CSPP1):c.8A>C (p.Asp3Ala)	CSPP1 (D39A +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21	GUncertain significance
Select item 962634	NM_001382391.1(CSPP1):c.15G>A (p.Leu5=)	CSPP1	Single nucleotide variant (synonymous variant)	Joubert syndrome 21	GLikely benign
Select item 1506397	NM_001382391.1(CSPP1):c.18T>A (p.Asp6Glu)	CSPP1 (D42E +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21	GUncertain significance
Select item 937081	NM_001382391.1(CSPP1):c.19G>T (p.Glu7Ter)	CSPP1 (E7* +1 more)	Single nucleotide variant (nonsense)	Joubert syndrome 21	GPathogenic
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 2155007	NM_001382391.1(CSPP1):c.30del (p.Glu11fs)	CSPP1 (E47fs +1 more)	Deletion (frameshift variant)	Joubert syndrome 21	GPathogenic
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 1359558	NM_001382391.1(CSPP1):c.32A>C (p.Glu11Ala)	CSPP1 (E11A +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21	GUncertain significance
Select item 1661724	NM_001382391.1(CSPP1):c.33G>A (p.Glu11=)	CSPP1	Single nucleotide variant (synonymous variant)	Joubert syndrome 21	GLikely benign
Select item 2036495	NM_001382391.1(CSPP1):c.42C>T (p.Ala14=)	CSPP1	Single nucleotide variant (synonymous variant)	Joubert syndrome 21	GLikely benign
Select item 1424119	NM_001382391.1(CSPP1):c.46T>G (p.Leu16Val)	CSPP1 (L16V +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21	GUncertain significance
Select item 681050	NM_001382391.1(CSPP1):c.46T>C (p.Leu16=)	CSPP1	Single nucleotide variant (synonymous variant)	Joubert syndrome 21 +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 958307	NM_001382391.1(CSPP1):c.52G>A (p.Glu18Lys)	CSPP1 (E18K +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21	GUncertain significance
Select item 961060	NM_001382391.1(CSPP1):c.58A>C (p.Lys20Gln)	CSPP1 (K20Q +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21	GUncertain significance
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 2820336	NM_001382391.1(CSPP1):c.63A>C (p.Ala21=)	CSPP1	Single nucleotide variant (synonymous variant)	Joubert syndrome 21	GLikely benign
Select item 1579998	NM_001382391.1(CSPP1):c.66G>A (p.Glu22=)	CSPP1	Single nucleotide variant (synonymous variant)	Joubert syndrome 21	GLikely benign
Select item 1355805	NM_001382391.1(CSPP1):c.72A>C (p.Glu24Asp)	CSPP1 (E24D +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 21	GUncertain significance

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