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Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | CSPP1 | Human | Joubert syndrome 21 | | IAGP | | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | CSPP1 | Human | Joubert syndrome 21 | | IAGP | | 7240710 | | OMIM | | |
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# | Reference Title | Reference Citation |
1. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
2. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
3. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
4. | RGD HPO Phenotype Annotation Pipeline | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
PMID:12477932 | PMID:14702039 | PMID:15580290 | PMID:16344560 | PMID:16826565 | PMID:18187620 | PMID:19129481 | PMID:20301500 | PMID:20519441 | PMID:21399614 | PMID:21873635 | PMID:24255178 |
PMID:24360803 | PMID:24360807 | PMID:24360808 | PMID:24613305 | PMID:24901235 | PMID:25281560 | PMID:25416956 | PMID:25833693 | PMID:26186194 | PMID:26241740 | PMID:26378239 | PMID:26496610 |
PMID:26638075 | PMID:27173435 | PMID:27880917 | PMID:28514442 | PMID:29053956 | PMID:29395067 | PMID:29742019 | PMID:29778605 | PMID:30965236 | PMID:31182584 | PMID:31462741 | PMID:31586073 |
PMID:32296183 | PMID:32453716 | PMID:32495924 | PMID:33957083 | PMID:33961781 | PMID:34079125 | PMID:35271311 | PMID:35713481 | PMID:36606424 | PMID:36674791 | PMID:36752787 | PMID:36774506 |
PMID:36931259 | PMID:37689310 | PMID:39098523 | PMID:40437099 |
CSPP1 (Homo sapiens - human) |
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Cspp1 (Mus musculus - house mouse) |
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Cspp1 (Rattus norvegicus - Norway rat) |
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Cspp1 (Chinchilla lanigera - long-tailed chinchilla) |
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CSPP1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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CSPP1 (Canis lupus familiaris - dog) |
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Cspp1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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CSPP1 (Sus scrofa - pig) |
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CSPP1 (Chlorocebus sabaeus - green monkey) |
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Cspp1 (Heterocephalus glaber - naked mole-rat) |
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Variants in CSPP1
1127 total Variants ![]() |
Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_001382391.1(CSPP1):c.1817del (p.Leu606fs) | deletion | Joubert syndrome 21 [RCV001853627]|not provided [RCV000520172] | Chr8:67132068 [GRCh38] Chr8:68044303 [GRCh37] Chr8:8q13.2 |
pathogenic|likely pathogenic |
NM_001382391.1(CSPP1):c.1850_1860del (p.Arg617fs) | deletion | Joubert syndrome 21 [RCV001868165]|not provided [RCV000627450] | Chr8:67137468..67137478 [GRCh38] Chr8:68049703..68049713 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.3455_3460del (p.Lys1152_Pro1153del) | deletion | not provided [RCV000722367] | Chr8:67193586..67193591 [GRCh38] Chr8:68105821..68105826 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.953_977dup (p.Val326_Ile327insSerTyrGlyThrTer) | duplication | not provided [RCV000722637] | Chr8:67103065..67103066 [GRCh38] Chr8:68015300..68015301 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1453C>T (p.Arg485Cys) | single nucleotide variant | Joubert syndrome 21 [RCV001302573] | Chr8:67116079 [GRCh38] Chr8:68028314 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1693G>A (p.Val565Ile) | single nucleotide variant | CSPP1-related disorder [RCV003925555]|Joubert syndrome 21 [RCV000703453]|not provided [RCV000521993] | Chr8:67118817 [GRCh38] Chr8:68031052 [GRCh37] Chr8:8q13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001382391.1(CSPP1):c.2335C>T (p.Arg779Ter) | single nucleotide variant | CSPP1-related disorder [RCV004757126]|Joubert syndrome 21 [RCV000087066]|not provided [RCV004719692] | Chr8:67158540 [GRCh38] Chr8:68070775 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.2259_2260del (p.Glu755fs) | deletion | Joubert syndrome 21 [RCV000087067]|not provided [RCV001555416] | Chr8:67158463..67158464 [GRCh38] Chr8:68070698..68070699 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.2295del (p.Glu766fs) | deletion | Joubert syndrome 21 [RCV000087068] | Chr8:67158500 [GRCh38] Chr8:68070735 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.3227dup (p.Tyr1076Ter) | duplication | Joubert syndrome 21 [RCV000087069] | Chr8:67190655..67190656 [GRCh38] Chr8:68102890..68102891 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.2968+1G>A | single nucleotide variant | Joubert syndrome 21 [RCV000087070] | Chr8:67172556 [GRCh38] Chr8:68084791 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.2542_2543del (p.Met848fs) | deletion | Joubert syndrome 21 [RCV000087071] | Chr8:67161814..67161815 [GRCh38] Chr8:68074049..68074050 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.631C>T (p.Arg211Ter) | single nucleotide variant | Joubert syndrome 21 [RCV000087072] | Chr8:67095440 [GRCh38] Chr8:68007675 [GRCh37] Chr8:8q13.1 |
pathogenic |
NM_001382391.1(CSPP1):c.255_256del (p.His85fs) | deletion | Joubert syndrome 21 [RCV000087073] | Chr8:67086061..67086062 [GRCh38] Chr8:67998296..67998297 [GRCh37] Chr8:8q13.1 |
pathogenic |
NM_001382391.1(CSPP1):c.2259_2262del (p.Glu755fs) | deletion | CSPP1-related disorder [RCV004757127]|Joubert syndrome 21 [RCV000087074]|Meckel-Gruber syndrome [RCV000162164]|not provided [RCV001008753] | Chr8:67158463..67158466 [GRCh38] Chr8:68070698..68070701 [GRCh37] Chr8:8q13.2 |
pathogenic|likely pathogenic |
NM_001382391.1(CSPP1):c.625C>T (p.Gln209Ter) | single nucleotide variant | Joubert syndrome 21 [RCV000087075] | Chr8:67095434 [GRCh38] Chr8:68007669 [GRCh37] Chr8:8q13.1 |
pathogenic |
NM_001382391.1(CSPP1):c.2788C>T (p.Arg930Ter) | single nucleotide variant | Joubert syndrome 21 [RCV000087076] | Chr8:67164468 [GRCh38] Chr8:68076703 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.3156+6C>T | single nucleotide variant | CSPP1-related disorder [RCV004757390]|Inborn genetic diseases [RCV002564113]|Joubert syndrome 21 [RCV001246867] | Chr8:67177732 [GRCh38] Chr8:68089967 [GRCh37] Chr8:8q13.2 |
likely benign|uncertain significance |
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 | copy number gain | See cases [RCV000051206] | Chr8:241530..145049449 [GRCh38] Chr8:191530..146274835 [GRCh37] Chr8:181530..146245639 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3 | copy number gain | See cases [RCV000053653] | Chr8:57361243..79170078 [GRCh38] Chr8:58273802..80082313 [GRCh37] Chr8:58436356..80244868 [NCBI36] Chr8:8q12.1-21.13 |
pathogenic |
GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3 | copy number gain | See cases [RCV000053654] | Chr8:61691800..82537696 [GRCh38] Chr8:62604359..83449931 [GRCh37] Chr8:62766913..83612486 [NCBI36] Chr8:8q12.3-21.13 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 | copy number gain | See cases [RCV000053602] | Chr8:241530..145054634 [GRCh38] Chr8:191530..146280020 [GRCh37] Chr8:181530..146250824 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] | Chr8:244417..145054775 [GRCh38] Chr8:194417..146280161 [GRCh37] Chr8:184417..146250965 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8q12.3-21.11(chr8:62230636-73227786)x1 | copy number loss | See cases [RCV000054242] | Chr8:62230636..73227786 [GRCh38] Chr8:63143195..74140021 [GRCh37] Chr8:63305749..74302575 [NCBI36] Chr8:8q12.3-21.11 |
pathogenic |
NM_024790.6(CSPP1):c.1481G>A (p.Arg494Lys) | single nucleotide variant | Malignant melanoma [RCV000068371] | Chr8:67116122 [GRCh38] Chr8:68028357 [GRCh37] Chr8:68190911 [NCBI36] Chr8:8q13.2 |
not provided |
NM_024790.6(CSPP1):c.3512G>A (p.Gly1171Glu) | single nucleotide variant | Malignant melanoma [RCV000068372] | Chr8:67195439 [GRCh38] Chr8:68107674 [GRCh37] Chr8:68270228 [NCBI36] Chr8:8q13.2 |
not provided |
NM_006837.2(COPS5):c.134G>A (p.Trp45Ter) | single nucleotide variant | Malignant melanoma [RCV000061823] | Chr8:67061863 [GRCh38] Chr8:67974098 [GRCh37] Chr8:68136652 [NCBI36] Chr8:8q13.1 |
not provided |
NM_001382391.1(CSPP1):c.430del (p.Arg144fs) | deletion | Joubert syndrome 21 [RCV000201561] | Chr8:67093588 [GRCh38] Chr8:68005823 [GRCh37] Chr8:8q13.1 |
pathogenic |
NM_001382391.1(CSPP1):c.3220+1G>A | single nucleotide variant | Joubert syndrome 21 [RCV000201570] | Chr8:67179927 [GRCh38] Chr8:68092162 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.923+1G>C | single nucleotide variant | Joubert syndrome 21 [RCV000201587]|not provided [RCV001847909] | Chr8:67095733 [GRCh38] Chr8:68007968 [GRCh37] Chr8:8q13.1 |
pathogenic |
NM_001382391.1(CSPP1):c.1697+1G>T | single nucleotide variant | Joubert syndrome 21 [RCV000201750] | Chr8:67118822 [GRCh38] Chr8:68031057 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_024790.6(CSPP1):c.362_363delAT (p.His121Glnfs) | deletion | Joubert syndrome 21 [RCV000201624] | Chr8:67086061..67086062 [GRCh38] Chr8:67998296..67998297 [GRCh37] Chr8:8q13.1 |
pathogenic |
NM_001382391.1(CSPP1):c.2463_2469del (p.Glu822fs) | microsatellite | Joubert syndrome 21 [RCV000201764] | Chr8:67159050..67159056 [GRCh38] Chr8:68071285..68071291 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.1105C>T (p.Arg369Ter) | single nucleotide variant | Joubert syndrome 21 [RCV000201690]|not provided [RCV000520785] | Chr8:67111983 [GRCh38] Chr8:68024218 [GRCh37] Chr8:8q13.2 |
pathogenic|likely pathogenic |
NM_001382391.1(CSPP1):c.2723del (p.Asn908fs) | deletion | CSPP1-related disorder [RCV003982947]|Joubert syndrome 21 [RCV000201696]|not provided [RCV001268619] | Chr8:67164396 [GRCh38] Chr8:68076631 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.2463_2469dup (p.Glu824fs) | microsatellite | Joubert syndrome 21 [RCV000201734] | Chr8:67159049..67159050 [GRCh38] Chr8:68071284..68071285 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.1967A>G (p.Asn656Ser) | single nucleotide variant | Joubert syndrome 21 [RCV001302739] | Chr8:67137595 [GRCh38] Chr8:68049830 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2456_2459del (p.Lys819fs) | microsatellite | Joubert syndrome 21 [RCV000201671]|not provided [RCV005411369] | Chr8:67159047..67159050 [GRCh38] Chr8:68071282..68071285 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.2275C>T (p.Arg759Ter) | single nucleotide variant | Joubert syndrome 21 [RCV000201785] | Chr8:67158480 [GRCh38] Chr8:68070715 [GRCh37] Chr8:8q13.2 |
pathogenic|likely pathogenic |
NM_001382391.1(CSPP1):c.2314C>T (p.Arg772Trp) | single nucleotide variant | Inborn genetic diseases [RCV004978275]|Joubert syndrome 21 [RCV001302884] | Chr8:67158519 [GRCh38] Chr8:68070754 [GRCh37] Chr8:8q13.2 |
uncertain significance |
GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3 | copy number gain | See cases [RCV000133720] | Chr8:46031334..69303787 [GRCh38] Chr8:46942956..70216022 [GRCh37] Chr8:47062121..70378576 [NCBI36] Chr8:8q11.1-13.2 |
pathogenic |
GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3 | copy number gain | See cases [RCV000137050] | Chr8:66171669..93505509 [GRCh38] Chr8:67083904..94517737 [GRCh37] Chr8:67246458..94586913 [NCBI36] Chr8:8q13.1-22.1 |
pathogenic |
GRCh38/hg38 8q13.1-21.13(chr8:66633845-80100089)x3 | copy number gain | See cases [RCV000138027] | Chr8:66633845..80100089 [GRCh38] Chr8:67546080..81012324 [GRCh37] Chr8:67708634..81174879 [NCBI36] Chr8:8q13.1-21.13 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 | copy number gain | See cases [RCV000138643] | Chr8:241605..145054781 [GRCh38] Chr8:191605..146280167 [GRCh37] Chr8:181605..146250971 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 | copy number gain | See cases [RCV000139539] | Chr8:46031340..139285494 [GRCh38] Chr8:46942962..140297737 [GRCh37] Chr8:47062127..140366919 [NCBI36] Chr8:8q11.1-24.3 |
pathogenic |
GRCh38/hg38 8q13.1-13.2(chr8:66968881-67271875)x3 | copy number gain | See cases [RCV000141417] | Chr8:66968881..67271875 [GRCh38] Chr8:67881116..68184110 [GRCh37] Chr8:68043670..68346664 [NCBI36] Chr8:8q13.1-13.2 |
uncertain significance |
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 | copy number gain | See cases [RCV000141808] | Chr8:208048..145070385 [GRCh38] Chr8:158048..146295771 [GRCh37] Chr8:148048..146266575 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 | copy number gain | See cases [RCV000142021] | Chr8:21291522..145070385 [GRCh38] Chr8:21149033..146295771 [GRCh37] Chr8:21193313..146266575 [NCBI36] Chr8:8p21.3-q24.3 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 | copy number gain | See cases [RCV000142858] | Chr8:226452..145068712 [GRCh38] Chr8:176452..146294098 [GRCh37] Chr8:166452..146264902 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 | copy number gain | See cases [RCV000148092] | Chr8:241530..145054634 [GRCh38] Chr8:191530..146280020 [GRCh37] Chr8:181530..146250824 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
NM_001382391.1(CSPP1):c.104A>G (p.Lys35Arg) | single nucleotide variant | CSPP1-related disorder [RCV003935358]|Joubert syndrome 21 [RCV001083166]|not provided [RCV000513710] | Chr8:67076486 [GRCh38] Chr8:67988721 [GRCh37] Chr8:8q13.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001382391.1(CSPP1):c.1022+5A>C | single nucleotide variant | not specified [RCV000193005] | Chr8:67103140 [GRCh38] Chr8:68015375 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3109+39C>T | single nucleotide variant | not provided [RCV001571276] | Chr8:67175475 [GRCh38] Chr8:68087710 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1153G>T (p.Glu385Ter) | single nucleotide variant | Joubert syndrome 21 [RCV001859690]|not provided [RCV000426028] | Chr8:67112031 [GRCh38] Chr8:68024266 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.1828-4C>A | single nucleotide variant | Joubert syndrome 21 [RCV003743750]|not provided [RCV000488123] | Chr8:67137452 [GRCh38] Chr8:68049687 [GRCh37] Chr8:8q13.2 |
likely benign|uncertain significance |
NM_001382391.1(CSPP1):c.3395_3397del (p.Val1132del) | deletion | Joubert syndrome 21 [RCV001315988]|not provided [RCV000488973] | Chr8:67193526..67193528 [GRCh38] Chr8:68105761..68105763 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.430_431del (p.Arg144fs) | deletion | Joubert syndrome 21 [RCV002525170]|not provided [RCV000522105] | Chr8:67093588..67093589 [GRCh38] Chr8:68005823..68005824 [GRCh37] Chr8:8q13.1 |
pathogenic |
NM_001382391.1(CSPP1):c.3466dup (p.Thr1156fs) | duplication | Joubert syndrome 21 [RCV002531117]|not provided [RCV000598647] | Chr8:67193598..67193599 [GRCh38] Chr8:68105833..68105834 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3570_3572dup (p.Ser1191_Glu1192insSer) | duplication | not provided [RCV000723134] | Chr8:67195480..67195481 [GRCh38] Chr8:68107715..68107716 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2392-8_2392-4del | microsatellite | Joubert syndrome 21 [RCV000546968]|not provided [RCV001700367] | Chr8:67158978..67158982 [GRCh38] Chr8:68071213..68071217 [GRCh37] Chr8:8q13.2 |
benign|likely benign|uncertain significance |
NM_001382391.1(CSPP1):c.3530C>T (p.Ser1177Leu) | single nucleotide variant | Inborn genetic diseases [RCV003189922] | Chr8:67195442 [GRCh38] Chr8:68107677 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.291_293delinsCTT (p.Tyr98Phe) | indel | not provided [RCV000722372] | Chr8:67086098..67086100 [GRCh38] Chr8:67998333..67998335 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.3221-2A>G | single nucleotide variant | not provided [RCV000722928] | Chr8:67190648 [GRCh38] Chr8:68102883 [GRCh37] Chr8:8q13.2 |
uncertain significance |
GRCh37/hg19 8q13.2(chr8:68041907-68464647)x3 | copy number gain | See cases [RCV000454319] | Chr8:68041907..68464647 [GRCh37] Chr8:8q13.2 |
uncertain significance |
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 | copy number gain | See cases [RCV000447507] | Chr8:158991..146280828 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
NM_001382391.1(CSPP1):c.3405T>G (p.Leu1135=) | single nucleotide variant | CSPP1-related disorder [RCV003925290]|Joubert syndrome 21 [RCV000950923]|not provided [RCV003431007]|not specified [RCV000420814] | Chr8:67193538 [GRCh38] Chr8:68105773 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.51C>T (p.Ala17=) | single nucleotide variant | Joubert syndrome 21 [RCV000652007]|not provided [RCV003422406]|not specified [RCV000438057] | Chr8:67074303 [GRCh38] Chr8:67986538 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_024790.6(CSPP1):c.-12C>T | single nucleotide variant | not specified [RCV000435194] | Chr8:67064387 [GRCh38] Chr8:67976622 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.2539-12T>A | single nucleotide variant | Joubert syndrome 21 [RCV001513166]|not provided [RCV004705536]|not specified [RCV000425283] | Chr8:67161799 [GRCh38] Chr8:68074034 [GRCh37] Chr8:8q13.2 |
benign|likely benign |
NM_001382391.1(CSPP1):c.2392-17C>T | single nucleotide variant | Joubert syndrome 21 [RCV001511790]|not provided [RCV004712785]|not specified [RCV000428859] | Chr8:67158974 [GRCh38] Chr8:68071209 [GRCh37] Chr8:8q13.2 |
benign |
NM_001382391.1(CSPP1):c.1245+15C>T | single nucleotide variant | Joubert syndrome 21 [RCV001514360]|not provided [RCV001698279] | Chr8:67113877 [GRCh38] Chr8:68026112 [GRCh37] Chr8:8q13.2 |
benign|likely benign |
NM_001382391.1(CSPP1):c.3220+13A>G | single nucleotide variant | Joubert syndrome 21 [RCV001512555]|not provided [RCV004712806]|not specified [RCV000432453] | Chr8:67179939 [GRCh38] Chr8:68092174 [GRCh37] Chr8:8q13.2 |
benign |
NM_001382391.1(CSPP1):c.3313T>C (p.Trp1105Arg) | single nucleotide variant | Joubert syndrome 21 [RCV000550141]|not provided [RCV004712788]|not specified [RCV000432483] | Chr8:67190742 [GRCh38] Chr8:68102977 [GRCh37] Chr8:8q13.2 |
benign |
NM_001382391.1(CSPP1):c.3138A>G (p.Lys1046=) | single nucleotide variant | Joubert syndrome 21 [RCV000535434]|not provided [RCV004712797]|not specified [RCV000439471] | Chr8:67177708 [GRCh38] Chr8:68089943 [GRCh37] Chr8:8q13.2 |
benign |
NM_001382391.1(CSPP1):c.3431G>A (p.Arg1144Gln) | single nucleotide variant | Inborn genetic diseases [RCV002524742]|Joubert syndrome 21 [RCV001308223]|not provided [RCV000426272] | Chr8:67193564 [GRCh38] Chr8:68105799 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.-121A>G | single nucleotide variant | CSPP1-related disorder [RCV003922728]|Joubert syndrome 21 [RCV000557114]|not provided [RCV001726165]|not specified [RCV000443482] | Chr8:67064428 [GRCh38] Chr8:67976663 [GRCh37] Chr8:8q13.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
GRCh37/hg19 8q12.3-13.2(chr8:65194424-68570319)x1 | copy number loss | See cases [RCV000445999] | Chr8:65194424..68570319 [GRCh37] Chr8:8q12.3-13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.2590A>C (p.Ser864Arg) | single nucleotide variant | CSPP1-related disorder [RCV003932624]|Joubert syndrome 21 [RCV000949165]|not provided [RCV000419909] | Chr8:67161862 [GRCh38] Chr8:68074097 [GRCh37] Chr8:8q13.2 |
likely pathogenic|likely benign |
NM_001382391.1(CSPP1):c.3493C>T (p.Pro1165Ser) | single nucleotide variant | CSPP1-related disorder [RCV003922770]|Joubert syndrome 21 [RCV000560276]|not provided [RCV000440178] | Chr8:67195405 [GRCh38] Chr8:68107640 [GRCh37] Chr8:8q13.2 |
benign|likely benign |
NM_001382391.1(CSPP1):c.1218G>C (p.Ala406=) | single nucleotide variant | Joubert syndrome 21 [RCV001407852]|not specified [RCV000440201] | Chr8:67113835 [GRCh38] Chr8:68026070 [GRCh37] Chr8:8q13.2 |
likely benign|conflicting interpretations of pathogenicity |
NM_001382391.1(CSPP1):c.967G>A (p.Asp323Asn) | single nucleotide variant | Inborn genetic diseases [RCV003243120]|not provided [RCV000436109] | Chr8:67103080 [GRCh38] Chr8:68015315 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2630G>A (p.Arg877His) | single nucleotide variant | Joubert syndrome 21 [RCV001511791]|not provided [RCV004712786]|not specified [RCV000440846] | Chr8:67161902 [GRCh38] Chr8:68074137 [GRCh37] Chr8:8q13.2 |
benign |
NM_001382391.1(CSPP1):c.2968+5G>A | single nucleotide variant | Joubert syndrome 21 [RCV001211875]|not provided [RCV000444612] | Chr8:67172560 [GRCh38] Chr8:68084795 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.-34C>G | single nucleotide variant | Joubert syndrome 21 [RCV001512343]|not provided [RCV004712792]|not specified [RCV000420412] | Chr8:67064515 [GRCh38] Chr8:67976750 [GRCh37] Chr8:8q13.1 |
benign |
NM_001382391.1(CSPP1):c.3285C>T (p.Pro1095=) | single nucleotide variant | CSPP1-related disorder [RCV003912655]|Joubert syndrome 21 [RCV000945690]|not provided [RCV001703618]|not specified [RCV000437529] | Chr8:67190714 [GRCh38] Chr8:68102949 [GRCh37] Chr8:8q13.2 |
benign|likely benign |
NM_001382391.1(CSPP1):c.2017C>A (p.His673Asn) | single nucleotide variant | not provided [RCV000483524] | Chr8:67149824 [GRCh38] Chr8:68062059 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2128+36del | deletion | Joubert syndrome 21 [RCV002056687]|not provided [RCV001721488]|not specified [RCV000454556] | Chr8:67149948 [GRCh38] Chr8:68062183 [GRCh37] Chr8:8q13.2 |
benign |
NM_001382391.1(CSPP1):c.3110-1G>A | single nucleotide variant | Joubert syndrome 21 [RCV003583161]|not provided [RCV000483022] | Chr8:67177679 [GRCh38] Chr8:68089914 [GRCh37] Chr8:8q13.2 |
likely pathogenic |
NM_001382391.1(CSPP1):c.814C>T (p.Arg272Trp) | single nucleotide variant | Inborn genetic diseases [RCV002525937]|Joubert syndrome 21 [RCV001054937]|not provided [RCV000481792] | Chr8:67095623 [GRCh38] Chr8:68007858 [GRCh37] Chr8:8q13.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001382391.1(CSPP1):c.1619-15_1619-8del | microsatellite | not specified [RCV000486182] | Chr8:67118714..67118721 [GRCh38] Chr8:68030949..68030956 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1023-7dup | duplication | Joubert syndrome 21 [RCV002063759]|not specified [RCV000478525] | Chr8:67105891..67105892 [GRCh38] Chr8:68018126..68018127 [GRCh37] Chr8:8q13.2 |
benign|likely benign |
NM_001382391.1(CSPP1):c.26T>C (p.Ile9Thr) | single nucleotide variant | not provided [RCV000478974] | Chr8:67074278 [GRCh38] Chr8:67986513 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.2220C>A (p.Tyr740Ter) | single nucleotide variant | Joubert syndrome 21 [RCV000503871]|not provided [RCV001778979] | Chr8:67154115 [GRCh38] Chr8:68066350 [GRCh37] Chr8:8q13.2 |
pathogenic|likely pathogenic |
NM_001382391.1(CSPP1):c.2829-9_2968+11del | deletion | Joubert syndrome 21 [RCV000501762] | Chr8:67172404..67172563 [GRCh38] Chr8:68084639..68084798 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.*6A>G | single nucleotide variant | not provided [RCV004691799]|not specified [RCV000499657] | Chr8:67195599 [GRCh38] Chr8:68107834 [GRCh37] Chr8:8q13.2 |
uncertain significance |
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) | copy number gain | See cases [RCV000510234] | Chr8:158049..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
NM_001382391.1(CSPP1):c.3245C>T (p.Ala1082Val) | single nucleotide variant | Joubert syndrome 21 [RCV002524083]|not provided [RCV000498042] | Chr8:67190674 [GRCh38] Chr8:68102909 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3165T>C (p.Asp1055=) | single nucleotide variant | Joubert syndrome 21 [RCV000878340]|not provided [RCV001537808]|not specified [RCV000502767] | Chr8:67179871 [GRCh38] Chr8:68092106 [GRCh37] Chr8:8q13.2 |
benign|likely benign |
NM_024790.6(CSPP1):c.2113+13delT | deletion | not specified [RCV000493201] | Chr8:67149948 [GRCh38] Chr8:68062183 [GRCh37] Chr8:8q13.2 |
benign |
NM_001382391.1(CSPP1):c.3647T>A (p.Phe1216Tyr) | single nucleotide variant | not provided [RCV000493427] | Chr8:67195559 [GRCh38] Chr8:68107794 [GRCh37] Chr8:8q13.2 |
uncertain significance |
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 | copy number gain | See cases [RCV000511095] | Chr8:158049..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
NM_001382391.1(CSPP1):c.1977T>C (p.Thr659=) | single nucleotide variant | Joubert syndrome 21 [RCV000558436]|not provided [RCV001726238]|not specified [RCV000615327] | Chr8:67149784 [GRCh38] Chr8:68062019 [GRCh37] Chr8:8q13.2 |
benign|likely benign |
NM_001382391.1(CSPP1):c.1391C>G (p.Ser464Cys) | single nucleotide variant | Joubert syndrome 21 [RCV000878181]|not provided [RCV000605361] | Chr8:67116017 [GRCh38] Chr8:68028252 [GRCh37] Chr8:8q13.2 |
benign|likely benign |
NM_001382391.1(CSPP1):c.448A>G (p.Ser150Gly) | single nucleotide variant | Joubert syndrome 21 [RCV000534027] | Chr8:67093606 [GRCh38] Chr8:68005841 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.2294C>A (p.Ala765Glu) | single nucleotide variant | Inborn genetic diseases [RCV002526704]|Joubert syndrome 21 [RCV000536770] | Chr8:67158499 [GRCh38] Chr8:68070734 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3109+18C>T | single nucleotide variant | Joubert syndrome 21 [RCV001520141]|not specified [RCV000615664] | Chr8:67175454 [GRCh38] Chr8:68087689 [GRCh37] Chr8:8q13.2 |
benign|likely benign |
NM_001382391.1(CSPP1):c.2887C>T (p.Pro963Ser) | single nucleotide variant | Joubert syndrome 21 [RCV002524990]|not provided [RCV000514476] | Chr8:67172474 [GRCh38] Chr8:68084709 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3110-11A>G | single nucleotide variant | Joubert syndrome 21 [RCV001512201]|not provided [RCV004712907]|not specified [RCV000612679] | Chr8:67177669 [GRCh38] Chr8:68089904 [GRCh37] Chr8:8q13.2 |
benign |
NM_001382391.1(CSPP1):c.100-13A>G | single nucleotide variant | Joubert syndrome 21 [RCV001523569]|not provided [RCV001719051] | Chr8:67076469 [GRCh38] Chr8:67988704 [GRCh37] Chr8:8q13.1 |
benign|likely benign |
NM_001382391.1(CSPP1):c.2421G>A (p.Arg807=) | single nucleotide variant | Joubert syndrome 21 [RCV002529690]|not provided [RCV004584771]|not specified [RCV000615901] | Chr8:67159020 [GRCh38] Chr8:68071255 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.5C>T (p.Ala2Val) | single nucleotide variant | Joubert syndrome 21 [RCV000652005]|not provided [RCV003126892] | Chr8:67074257 [GRCh38] Chr8:67986492 [GRCh37] Chr8:8q13.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001382391.1(CSPP1):c.2527dup (p.Glu843fs) | duplication | Joubert syndrome 21 [RCV000652006]|not provided [RCV004721524] | Chr8:67159122..67159123 [GRCh38] Chr8:68071357..68071358 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.2268A>G (p.Glu756=) | single nucleotide variant | Joubert syndrome 21 [RCV000652008]|not provided [RCV001662710] | Chr8:67158473 [GRCh38] Chr8:68070708 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2122A>G (p.Ser708Gly) | single nucleotide variant | Joubert syndrome 21 [RCV000652009]|not provided [RCV003992362] | Chr8:67149929 [GRCh38] Chr8:68062164 [GRCh37] Chr8:8q13.2 |
benign|likely benign |
NM_001382391.1(CSPP1):c.-10-5dup | duplication | Joubert syndrome 21 [RCV001514152]|not provided [RCV001722609] | Chr8:67074229..67074230 [GRCh38] Chr8:67986464..67986465 [GRCh37] Chr8:8q13.1 |
benign|likely benign |
NM_001382391.1(CSPP1):c.3296A>G (p.Glu1099Gly) | single nucleotide variant | CSPP1-related disorder [RCV003935669]|Joubert syndrome 21 [RCV000714686]|not provided [RCV001718897] | Chr8:67190725 [GRCh38] Chr8:68102960 [GRCh37] Chr8:8q13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001382391.1(CSPP1):c.1946C>T (p.Pro649Leu) | single nucleotide variant | Joubert syndrome 21 [RCV000656094] | Chr8:67137574 [GRCh38] Chr8:68049809 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3425G>C (p.Arg1142Pro) | single nucleotide variant | Inborn genetic diseases [RCV003262714] | Chr8:67193558 [GRCh38] Chr8:68105793 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3470-20G>T | single nucleotide variant | Joubert syndrome 21 [RCV001513877]|not specified [RCV000604720] | Chr8:67195362 [GRCh38] Chr8:68107597 [GRCh37] Chr8:8q13.2 |
benign|likely benign |
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 | copy number gain | See cases [RCV000512169] | Chr8:12490999..146295771 [GRCh37] Chr8:8p23.1-q24.3 |
pathogenic |
NM_001382391.1(CSPP1):c.3221-19C>T | single nucleotide variant | Joubert syndrome 21 [RCV003767594]|not specified [RCV000601091] | Chr8:67190631 [GRCh38] Chr8:68102866 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2161C>G (p.Arg721Gly) | single nucleotide variant | Joubert syndrome 21 [RCV000656095] | Chr8:67154056 [GRCh38] Chr8:68066291 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2778T>C (p.Arg926=) | single nucleotide variant | not provided [RCV000658432] | Chr8:67164458 [GRCh38] Chr8:68076693 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1675C>A (p.His559Asn) | single nucleotide variant | Inborn genetic diseases [RCV002534348]|Joubert syndrome 21 [RCV000698077] | Chr8:67118799 [GRCh38] Chr8:68031034 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1983G>C (p.Leu661Phe) | single nucleotide variant | Inborn genetic diseases [RCV002534345]|Joubert syndrome 21 [RCV000697951]|not provided [RCV003222107] | Chr8:67149790 [GRCh38] Chr8:68062025 [GRCh37] Chr8:8q13.2 |
uncertain significance |
GRCh37/hg19 8q13.1-13.2(chr8:67951205-68078373)x1 | copy number loss | not provided [RCV000682931] | Chr8:67951205..68078373 [GRCh37] Chr8:8q13.1-13.2 |
uncertain significance |
GRCh37/hg19 8q13.2(chr8:68038759-68245969)x3 | copy number gain | not provided [RCV000682943] | Chr8:68038759..68245969 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3509_3512dup (p.His1171fs) | duplication | Joubert syndrome 21 [RCV000687761] | Chr8:67195419..67195420 [GRCh38] Chr8:68107654..68107655 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1061A>G (p.Asp354Gly) | single nucleotide variant | Joubert syndrome 21 [RCV000703006]|not provided [RCV001562297] | Chr8:67105943 [GRCh38] Chr8:68018178 [GRCh37] Chr8:8q13.2 |
likely benign|uncertain significance |
NC_000008.10:g.(?_68024187)_(68107848_?)dup | duplication | Joubert syndrome 21 [RCV000708130] | Chr8:67111952..67195613 [GRCh38] Chr8:68024187..68107848 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2830A>T (p.Lys944Ter) | single nucleotide variant | Joubert syndrome 21 [RCV000705921] | Chr8:67172417 [GRCh38] Chr8:68084652 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.59_60del (p.Lys20fs) | deletion | Joubert syndrome 21 [RCV000697916]|not provided [RCV001816720] | Chr8:67074310..67074311 [GRCh38] Chr8:67986545..67986546 [GRCh37] Chr8:8q13.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_001382391.1(CSPP1):c.2540del (p.His847fs) | deletion | Joubert syndrome 21 [RCV000695658] | Chr8:67161812 [GRCh38] Chr8:68074047 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.1187+85G>A | single nucleotide variant | not provided [RCV001567540] | Chr8:67112150 [GRCh38] Chr8:68024385 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2828+296C>T | single nucleotide variant | not provided [RCV001546904] | Chr8:67164804 [GRCh38] Chr8:68077039 [GRCh37] Chr8:8q13.2 |
likely benign |
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 | copy number gain | not provided [RCV000747248] | Chr8:10213..146293414 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 | copy number gain | not provided [RCV000747254] | Chr8:164984..146293414 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
NM_001382391.1(CSPP1):c.2128+32_2128+36del | deletion | not provided [RCV001581827] | Chr8:67149948..67149952 [GRCh38] Chr8:68062183..68062187 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.3469+162C>T | single nucleotide variant | not provided [RCV001565555] | Chr8:67193764 [GRCh38] Chr8:68105999 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.81A>T (p.Pro27=) | single nucleotide variant | Joubert syndrome 21 [RCV000939853] | Chr8:67074333 [GRCh38] Chr8:67986568 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.2594A>T (p.Lys865Ile) | single nucleotide variant | Joubert syndrome 21 [RCV001065025] | Chr8:67161866 [GRCh38] Chr8:68074101 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.994A>G (p.Ile332Val) | single nucleotide variant | Joubert syndrome 21 [RCV001067443] | Chr8:67103107 [GRCh38] Chr8:68015342 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3221-254G>C | single nucleotide variant | not provided [RCV001551943] | Chr8:67190396 [GRCh38] Chr8:68102631 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2080G>T (p.Ala694Ser) | single nucleotide variant | Joubert syndrome 21 [RCV001067400] | Chr8:67149887 [GRCh38] Chr8:68062122 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2829-241_2829-240del | deletion | not provided [RCV001548396] | Chr8:67172155..67172156 [GRCh38] Chr8:68084390..68084391 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2969-113A>G | single nucleotide variant | not provided [RCV001582985] | Chr8:67175183 [GRCh38] Chr8:68087418 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.303+120G>A | single nucleotide variant | not provided [RCV001583019] | Chr8:67086230 [GRCh38] Chr8:67998465 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.-30T>A | single nucleotide variant | not provided [RCV001681604] | Chr8:67064519 [GRCh38] Chr8:67976754 [GRCh37] Chr8:8q13.1 |
benign |
NM_001382391.1(CSPP1):c.3221-272A>G | single nucleotide variant | not provided [RCV001709308] | Chr8:67190378 [GRCh38] Chr8:68102613 [GRCh37] Chr8:8q13.2 |
benign |
NM_001382391.1(CSPP1):c.1495A>G (p.Arg499Gly) | single nucleotide variant | not provided [RCV000999042] | Chr8:67116121 [GRCh38] Chr8:68028356 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.511A>G (p.Ile171Val) | single nucleotide variant | CSPP1-related disorder [RCV003960611]|Joubert syndrome 21 [RCV000950322] | Chr8:67095320 [GRCh38] Chr8:68007555 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.6T>C (p.Ala2=) | single nucleotide variant | not provided [RCV000945917] | Chr8:67074258 [GRCh38] Chr8:67986493 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.1209G>A (p.Arg403=) | single nucleotide variant | Joubert syndrome 21 [RCV001445308] | Chr8:67113826 [GRCh38] Chr8:68026061 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2676G>A (p.Pro892=) | single nucleotide variant | Joubert syndrome 21 [RCV001447022] | Chr8:67163764 [GRCh38] Chr8:68075999 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1521C>T (p.Pro507=) | single nucleotide variant | Joubert syndrome 21 [RCV000877813]|not provided [RCV004584820] | Chr8:67118272 [GRCh38] Chr8:68030507 [GRCh37] Chr8:8q13.2 |
benign |
NM_001382391.1(CSPP1):c.1141C>T (p.Leu381=) | single nucleotide variant | CSPP1-related disorder [RCV004757335]|Joubert syndrome 21 [RCV000926931] | Chr8:67112019 [GRCh38] Chr8:68024254 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.660A>T (p.Leu220=) | single nucleotide variant | not provided [RCV000920350] | Chr8:67095469 [GRCh38] Chr8:68007704 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.945G>A (p.Gly315=) | single nucleotide variant | CSPP1-related disorder [RCV003962830]|Joubert syndrome 21 [RCV001447880]|not provided [RCV003432972] | Chr8:67103058 [GRCh38] Chr8:68015293 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.815G>A (p.Arg272Gln) | single nucleotide variant | Inborn genetic diseases [RCV004609562]|Joubert syndrome 21 [RCV000877994]|not specified [RCV001817047] | Chr8:67095624 [GRCh38] Chr8:68007859 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.3578C>T (p.Thr1193Met) | single nucleotide variant | CSPP1-related disorder [RCV003903159]|Joubert syndrome 21 [RCV000946259] | Chr8:67195490 [GRCh38] Chr8:68107725 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2672C>T (p.Pro891Leu) | single nucleotide variant | Joubert syndrome 21 [RCV000900093]|not provided [RCV004705895] | Chr8:67163760 [GRCh38] Chr8:68075995 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1402G>C (p.Val468Leu) | single nucleotide variant | Joubert syndrome 21 [RCV001034859] | Chr8:67116028 [GRCh38] Chr8:68028263 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3655C>G (p.Gln1219Glu) | single nucleotide variant | Inborn genetic diseases [RCV004609607]|Joubert syndrome 21 [RCV001062425] | Chr8:67195567 [GRCh38] Chr8:68107802 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1556C>T (p.Pro519Leu) | single nucleotide variant | CSPP1-related disorder [RCV003928659]|Joubert syndrome 21 [RCV001071192]|Microcephaly [RCV001252707] | Chr8:67118307 [GRCh38] Chr8:68030542 [GRCh37] Chr8:8q13.2 |
likely benign|uncertain significance |
NM_001382391.1(CSPP1):c.919G>A (p.Asp307Asn) | single nucleotide variant | Joubert syndrome 21 [RCV001071195] | Chr8:67095728 [GRCh38] Chr8:68007963 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.3275C>T (p.Ser1092Leu) | single nucleotide variant | Inborn genetic diseases [RCV004031271]|Joubert syndrome 21 [RCV001042057]|not provided [RCV004693484] | Chr8:67190704 [GRCh38] Chr8:68102939 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NC_000008.11:g.(?_67149783)_(67177726_?)dup | duplication | Joubert syndrome 21 [RCV001033814] | Chr8:68062018..68089961 [GRCh37] Chr8:8q13.2 |
likely pathogenic |
NM_001382391.1(CSPP1):c.3157C>T (p.Pro1053Ser) | single nucleotide variant | Inborn genetic diseases [RCV002554549]|Joubert syndrome 21 [RCV001068552] | Chr8:67179863 [GRCh38] Chr8:68092098 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2762G>A (p.Arg921His) | single nucleotide variant | Inborn genetic diseases [RCV002553063]|Joubert syndrome 21 [RCV001039777] | Chr8:67164442 [GRCh38] Chr8:68076677 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1651G>A (p.Ala551Thr) | single nucleotide variant | Joubert syndrome 21 [RCV001038309] | Chr8:67118775 [GRCh38] Chr8:68031010 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3106A>G (p.Lys1036Glu) | single nucleotide variant | Joubert syndrome 21 [RCV001054269]|not provided [RCV001759797] | Chr8:67175433 [GRCh38] Chr8:68087668 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1976-2A>G | single nucleotide variant | Joubert syndrome 21 [RCV001057767] | Chr8:67149781 [GRCh38] Chr8:68062016 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.1987A>G (p.Arg663Gly) | single nucleotide variant | Joubert syndrome 21 [RCV000814999]|not provided [RCV001560586] | Chr8:67149794 [GRCh38] Chr8:68062029 [GRCh37] Chr8:8q13.2 |
likely benign|uncertain significance |
NM_001382391.1(CSPP1):c.3675T>C (p.His1225=) | single nucleotide variant | Joubert syndrome 21 [RCV005092904] | Chr8:67195587 [GRCh38] Chr8:68107822 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.3404T>G (p.Leu1135Arg) | single nucleotide variant | Joubert syndrome 21 [RCV000960785] | Chr8:67193537 [GRCh38] Chr8:68105772 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.483+10G>C | single nucleotide variant | Joubert syndrome 21 [RCV002065923] | Chr8:67093651 [GRCh38] Chr8:68005886 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.924-9G>A | single nucleotide variant | CSPP1-related disorder [RCV003942991]|Joubert syndrome 21 [RCV000946165] | Chr8:67103028 [GRCh38] Chr8:68015263 [GRCh37] Chr8:8q13.2 |
benign|likely benign |
NM_001382391.1(CSPP1):c.1398A>G (p.Pro466=) | single nucleotide variant | Joubert syndrome 21 [RCV001869321] | Chr8:67116024 [GRCh38] Chr8:68028259 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1461A>T (p.Gly487=) | single nucleotide variant | not provided [RCV000977880] | Chr8:67116087 [GRCh38] Chr8:68028322 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2241+134C>T | single nucleotide variant | not provided [RCV000832147] | Chr8:67154270 [GRCh38] Chr8:68066505 [GRCh37] Chr8:8q13.2 |
benign |
NM_001382391.1(CSPP1):c.3470-187C>G | single nucleotide variant | not provided [RCV000832148] | Chr8:67195195 [GRCh38] Chr8:68107430 [GRCh37] Chr8:8q13.2 |
benign |
GRCh37/hg19 8q13.2(chr8:68026827-68064392)x1 | copy number loss | not provided [RCV000845776] | Chr8:68026827..68064392 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.923+83A>G | single nucleotide variant | not provided [RCV000834384] | Chr8:67095815 [GRCh38] Chr8:68008050 [GRCh37] Chr8:8q13.1 |
benign |
NM_001382391.1(CSPP1):c.1698-65C>T | single nucleotide variant | not provided [RCV000834385] | Chr8:67131886 [GRCh38] Chr8:68044121 [GRCh37] Chr8:8q13.2 |
benign |
NM_001382391.1(CSPP1):c.1697+265T>C | single nucleotide variant | not provided [RCV000832802] | Chr8:67119086 [GRCh38] Chr8:68031321 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2813A>G (p.Asp938Gly) | single nucleotide variant | Joubert syndrome 21 [RCV000795882]|not provided [RCV003480830] | Chr8:67164493 [GRCh38] Chr8:68076728 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1697+227C>G | single nucleotide variant | not provided [RCV000838891] | Chr8:67119048 [GRCh38] Chr8:68031283 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.-11+236G>T | single nucleotide variant | not provided [RCV000826887] | Chr8:67064774 [GRCh38] Chr8:67977009 [GRCh37] Chr8:8q13.1 |
benign |
NM_001382391.1(CSPP1):c.46T>C (p.Leu16=) | single nucleotide variant | Joubert syndrome 21 [RCV001085056]|not provided [RCV000840882] | Chr8:67074298 [GRCh38] Chr8:67986533 [GRCh37] Chr8:8q13.1 |
benign|likely benign |
NM_001382391.1(CSPP1):c.2735A>G (p.Glu912Gly) | single nucleotide variant | Joubert syndrome 21 [RCV000816491] | Chr8:67164415 [GRCh38] Chr8:68076650 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.484-87G>A | single nucleotide variant | not provided [RCV000834315] | Chr8:67095206 [GRCh38] Chr8:68007441 [GRCh37] Chr8:8q13.1 |
benign |
NM_001382391.1(CSPP1):c.1798C>G (p.Gln600Glu) | single nucleotide variant | Joubert syndrome 21 [RCV001083560]|not provided [RCV000841251] | Chr8:67132051 [GRCh38] Chr8:68044286 [GRCh37] Chr8:8q13.2 |
benign|likely benign |
GRCh37/hg19 8q13.1-13.2(chr8:67987416-68078373)x1 | copy number loss | not provided [RCV000849921] | Chr8:67987416..68078373 [GRCh37] Chr8:8q13.1-13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.1187+274G>T | single nucleotide variant | not provided [RCV000832913] | Chr8:67112339 [GRCh38] Chr8:68024574 [GRCh37] Chr8:8q13.2 |
benign |
NM_001382391.1(CSPP1):c.484-15T>G | single nucleotide variant | Joubert syndrome 21 [RCV001520202]|not provided [RCV000827319] | Chr8:67095278 [GRCh38] Chr8:68007513 [GRCh37] Chr8:8q13.1 |
benign|likely benign |
NM_001382391.1(CSPP1):c.1976-270A>T | single nucleotide variant | not provided [RCV000833340] | Chr8:67149513 [GRCh38] Chr8:68061748 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.965A>G (p.His322Arg) | single nucleotide variant | Joubert syndrome 21 [RCV001079389]|not provided [RCV000833341]|not specified [RCV001816918] | Chr8:67103078 [GRCh38] Chr8:68015313 [GRCh37] Chr8:8q13.2 |
benign|likely benign |
NM_001382391.1(CSPP1):c.114G>A (p.Ala38=) | single nucleotide variant | CSPP1-related disorder [RCV003892159]|Joubert syndrome 21 [RCV001497603] | Chr8:67076496 [GRCh38] Chr8:67988731 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.1245+197A>G | single nucleotide variant | not provided [RCV000832114] | Chr8:67114059 [GRCh38] Chr8:68026294 [GRCh37] Chr8:8q13.2 |
benign |
NM_001382391.1(CSPP1):c.2808T>C (p.Ser936=) | single nucleotide variant | not provided [RCV000916497] | Chr8:67164488 [GRCh38] Chr8:68076723 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.3331-37G>A | single nucleotide variant | not provided [RCV000839323] | Chr8:67193427 [GRCh38] Chr8:68105662 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2828+168G>T | single nucleotide variant | not provided [RCV000839356] | Chr8:67164676 [GRCh38] Chr8:68076911 [GRCh37] Chr8:8q13.2 |
likely benign |
GRCh37/hg19 8q13.1-13.2(chr8:67718713-68020835)x3 | copy number gain | not provided [RCV001006109] | Chr8:67718713..68020835 [GRCh37] Chr8:8q13.1-13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1555C>T (p.Pro519Ser) | single nucleotide variant | Joubert syndrome 21 [RCV001068560] | Chr8:67118306 [GRCh38] Chr8:68030541 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.773G>A (p.Arg258Lys) | single nucleotide variant | Inborn genetic diseases [RCV004031337]|Joubert syndrome 21 [RCV001043973]|Retinal dystrophy [RCV004813586] | Chr8:67095582 [GRCh38] Chr8:68007817 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.2675C>G (p.Pro892Arg) | single nucleotide variant | Joubert syndrome 21 [RCV001065026] | Chr8:67163763 [GRCh38] Chr8:68075998 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.108G>T (p.Leu36Phe) | single nucleotide variant | Joubert syndrome 21 [RCV001047108] | Chr8:67076490 [GRCh38] Chr8:67988725 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.3638C>G (p.Pro1213Arg) | single nucleotide variant | Joubert syndrome 21 [RCV001044562] | Chr8:67195550 [GRCh38] Chr8:68107785 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NC_000008.11:g.(?_67193464)_(67193602_?)del | deletion | Joubert syndrome 21 [RCV001032638] | Chr8:68105699..68105837 [GRCh37] Chr8:8q13.2 |
uncertain significance |
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 | copy number gain | not provided [RCV000848478] | Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 | copy number gain | not provided [RCV000848192] | Chr8:31936551..146295771 [GRCh37] Chr8:8p12-q24.3 |
pathogenic |
GRCh37/hg19 8q13.1-13.2(chr8:67780228-68161496)x3 | copy number gain | not provided [RCV000848585] | Chr8:67780228..68161496 [GRCh37] Chr8:8q13.1-13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.52G>A (p.Glu18Lys) | single nucleotide variant | Joubert syndrome 21 [RCV001231450] | Chr8:67074304 [GRCh38] Chr8:67986539 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.1871A>G (p.Lys624Arg) | single nucleotide variant | Joubert syndrome 21 [RCV001067963] | Chr8:67137499 [GRCh38] Chr8:68049734 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2968+1G>T | single nucleotide variant | Joubert syndrome 21 [RCV000991297] | Chr8:67172556 [GRCh38] Chr8:68084791 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.3331-2A>G | single nucleotide variant | Joubert syndrome 21 [RCV001231245] | Chr8:67193462 [GRCh38] Chr8:68105697 [GRCh37] Chr8:8q13.2 |
likely pathogenic |
NM_001382391.1(CSPP1):c.113C>T (p.Ala38Val) | single nucleotide variant | Inborn genetic diseases [RCV002563240]|Joubert syndrome 21 [RCV001234295] | Chr8:67076495 [GRCh38] Chr8:67988730 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.3029C>G (p.Thr1010Ser) | single nucleotide variant | Joubert syndrome 21 [RCV001206212]|not provided [RCV003117844] | Chr8:67175356 [GRCh38] Chr8:68087591 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1639G>A (p.Val547Ile) | single nucleotide variant | Joubert syndrome 21 [RCV001208864]|not provided [RCV004695174] | Chr8:67118763 [GRCh38] Chr8:68030998 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2282G>A (p.Arg761Lys) | single nucleotide variant | Inborn genetic diseases [RCV003166474]|Joubert syndrome 21 [RCV001237448] | Chr8:67158487 [GRCh38] Chr8:68070722 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.769G>A (p.Asp257Asn) | single nucleotide variant | Inborn genetic diseases [RCV004034607]|Joubert syndrome 21 [RCV001239287] | Chr8:67095578 [GRCh38] Chr8:68007813 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.58A>C (p.Lys20Gln) | single nucleotide variant | Joubert syndrome 21 [RCV001234694] | Chr8:67074310 [GRCh38] Chr8:67986545 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.2238C>A (p.Phe746Leu) | single nucleotide variant | Inborn genetic diseases [RCV002564003]|Joubert syndrome 21 [RCV001241477] | Chr8:67154133 [GRCh38] Chr8:68066368 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2800A>G (p.Met934Val) | single nucleotide variant | Inborn genetic diseases [RCV005318685]|Joubert syndrome 21 [RCV001240309] | Chr8:67164480 [GRCh38] Chr8:68076715 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1906A>G (p.Arg636Gly) | single nucleotide variant | Joubert syndrome 21 [RCV001209910] | Chr8:67137534 [GRCh38] Chr8:68049769 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3050C>T (p.Ala1017Val) | single nucleotide variant | Joubert syndrome 21 [RCV001243429] | Chr8:67175377 [GRCh38] Chr8:68087612 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3603G>C (p.Gln1201His) | single nucleotide variant | Joubert syndrome 21 [RCV001243477] | Chr8:67195515 [GRCh38] Chr8:68107750 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1831C>T (p.Arg611Trp) | single nucleotide variant | Joubert syndrome 21 [RCV001232202] | Chr8:67137459 [GRCh38] Chr8:68049694 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1093+3A>G | single nucleotide variant | Joubert syndrome 21 [RCV001211574] | Chr8:67105978 [GRCh38] Chr8:68018213 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.757G>C (p.Ala253Pro) | single nucleotide variant | Joubert syndrome 21 [RCV001213198] | Chr8:67095566 [GRCh38] Chr8:68007801 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.799C>T (p.Arg267Cys) | single nucleotide variant | Joubert syndrome 21 [RCV001201461] | Chr8:67095608 [GRCh38] Chr8:68007843 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.1976-20G>A | single nucleotide variant | Joubert syndrome 21 [RCV003105125] | Chr8:67149763 [GRCh38] Chr8:68061998 [GRCh37] Chr8:8q13.2 |
likely benign |
NC_000008.10:g.(68007968_68015271)_(68062171_68066258)del | deletion | Joubert syndrome 21 [RCV004699904] | Chr8:68015271..68062171 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.2373_2374del (p.Lys794fs) | deletion | Joubert syndrome 21 [RCV003120101] | Chr8:67158576..67158577 [GRCh38] Chr8:68070811..68070812 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.1291G>A (p.Asp431Asn) | single nucleotide variant | Joubert syndrome 21 [RCV003104664] | Chr8:67115917 [GRCh38] Chr8:68028152 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3221-138G>A | single nucleotide variant | not provided [RCV001577408] | Chr8:67190512 [GRCh38] Chr8:68102747 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.*166G>A | single nucleotide variant | not provided [RCV001547348] | Chr8:67195759 [GRCh38] Chr8:68107994 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1187+187dup | duplication | not provided [RCV001548166] | Chr8:67112234..67112235 [GRCh38] Chr8:68024469..68024470 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.646A>G (p.Arg216Gly) | single nucleotide variant | not provided [RCV004812927] | Chr8:67095455 [GRCh38] Chr8:68007690 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.2128+33_2128+36del | deletion | not provided [RCV001588563] | Chr8:67149948..67149951 [GRCh38] Chr8:68062183..68062186 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1698-1G>C | single nucleotide variant | Joubert syndrome 21 [RCV001542098] | Chr8:67131950 [GRCh38] Chr8:68044185 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.303+290A>G | single nucleotide variant | not provided [RCV001555872] | Chr8:67086400 [GRCh38] Chr8:67998635 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.1187+187del | deletion | not provided [RCV001639078] | Chr8:67112235 [GRCh38] Chr8:68024470 [GRCh37] Chr8:8q13.2 |
benign |
NC_000008.11:g.67064343G>A | single nucleotide variant | not provided [RCV001572217] | Chr8:67064343 [GRCh38] Chr8:67976578 [GRCh37] Chr8:8q13.1 |
likely benign |
NC_000008.11:g.67064144C>G | single nucleotide variant | not provided [RCV001666849] | Chr8:67064144 [GRCh38] Chr8:67976379 [GRCh37] Chr8:8q13.1 |
benign |
NC_000008.11:g.67064342C>T | single nucleotide variant | not provided [RCV001586344] | Chr8:67064342 [GRCh38] Chr8:67976577 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.1976-298dup | duplication | not provided [RCV001565344] | Chr8:67149482..67149483 [GRCh38] Chr8:68061717..68061718 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.3331-220G>A | single nucleotide variant | not provided [RCV001567974] | Chr8:67193244 [GRCh38] Chr8:68105479 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1828-207A>C | single nucleotide variant | not provided [RCV001558294] | Chr8:67137249 [GRCh38] Chr8:68049484 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1828-111del | deletion | not provided [RCV001570831] | Chr8:67137334 [GRCh38] Chr8:68049569 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2129-95T>A | single nucleotide variant | not provided [RCV001620934] | Chr8:67153929 [GRCh38] Chr8:68066164 [GRCh37] Chr8:8q13.2 |
benign |
NM_001382391.1(CSPP1):c.2539-50G>A | single nucleotide variant | not provided [RCV001552494] | Chr8:67161761 [GRCh38] Chr8:68073996 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.966T>A (p.His322Gln) | single nucleotide variant | Inborn genetic diseases [RCV003252946] | Chr8:67103079 [GRCh38] Chr8:68015314 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2329A>C (p.Arg777=) | single nucleotide variant | Joubert syndrome 21 [RCV001454288] | Chr8:67158534 [GRCh38] Chr8:68070769 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.632G>T (p.Arg211Leu) | single nucleotide variant | CSPP1-related disorder [RCV003975497]|Joubert syndrome 21 [RCV000878563]|not provided [RCV001568588] | Chr8:67095441 [GRCh38] Chr8:68007676 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.1195G>T (p.Asp399Tyr) | single nucleotide variant | not provided [RCV001767324] | Chr8:67113812 [GRCh38] Chr8:68026047 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1875A>G (p.Glu625=) | single nucleotide variant | Joubert syndrome 21 [RCV002540076] | Chr8:67137503 [GRCh38] Chr8:68049738 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2104G>T (p.Glu702Ter) | single nucleotide variant | Joubert syndrome 21 [RCV001046614] | Chr8:67149911 [GRCh38] Chr8:68062146 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.1043C>A (p.Ser348Tyr) | single nucleotide variant | Inborn genetic diseases [RCV004034890]|Joubert syndrome 21 [RCV001247252] | Chr8:67105925 [GRCh38] Chr8:68018160 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1501G>A (p.Ala501Thr) | single nucleotide variant | Joubert syndrome 21 [RCV001236534] | Chr8:67118252 [GRCh38] Chr8:68030487 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.191G>A (p.Gly64Asp) | single nucleotide variant | Joubert syndrome 21 [RCV001227538] | Chr8:67076573 [GRCh38] Chr8:67988808 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.1645C>G (p.Pro549Ala) | single nucleotide variant | Inborn genetic diseases [RCV003246792]|Joubert syndrome 21 [RCV001236919]|Retinal dystrophy [RCV004813960] | Chr8:67118769 [GRCh38] Chr8:68031004 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.19G>T (p.Glu7Ter) | single nucleotide variant | Joubert syndrome 21 [RCV001206028] | Chr8:67074271 [GRCh38] Chr8:67986506 [GRCh37] Chr8:8q13.1 |
pathogenic |
NM_001382391.1(CSPP1):c.1549C>T (p.Arg517Ter) | single nucleotide variant | Joubert syndrome 21 [RCV001066976] | Chr8:67118300 [GRCh38] Chr8:68030535 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.1359A>C (p.Arg453Ser) | single nucleotide variant | Inborn genetic diseases [RCV004033775]|Joubert syndrome 21 [RCV001209477]|not provided [RCV001836969] | Chr8:67115985 [GRCh38] Chr8:68028220 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NC_000008.11:g.(?_67010715)_(67064496_?)dup | duplication | Joubert syndrome 21 [RCV001033688] | Chr8:67922950..67976731 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.1187G>A (p.Arg396Gln) | single nucleotide variant | Joubert syndrome 21 [RCV001221087] | Chr8:67112065 [GRCh38] Chr8:68024300 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.849T>G (p.Ser283Arg) | single nucleotide variant | Inborn genetic diseases [RCV002561235]|Joubert syndrome 21 [RCV001206740]|not provided [RCV004695166] | Chr8:67095658 [GRCh38] Chr8:68007893 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.2059G>T (p.Val687Leu) | single nucleotide variant | Joubert syndrome 21 [RCV001241584] | Chr8:67149866 [GRCh38] Chr8:68062101 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.941G>A (p.Arg314Gln) | single nucleotide variant | Inborn genetic diseases [RCV003284085]|Joubert syndrome 21 [RCV001228091] | Chr8:67103054 [GRCh38] Chr8:68015289 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3478A>G (p.Ser1160Gly) | single nucleotide variant | Retinal dystrophy [RCV004815887] | Chr8:67195390 [GRCh38] Chr8:68107625 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2504G>A (p.Cys835Tyr) | single nucleotide variant | Joubert syndrome 21 [RCV002573598]|Retinal dystrophy [RCV004817035]|not provided [RCV002469805] | Chr8:67159103 [GRCh38] Chr8:68071338 [GRCh37] Chr8:8q13.2 |
uncertain significance |
GRCh37/hg19 8q13.1-13.2(chr8:67261729-68676568)x1 | copy number loss | not provided [RCV002472760] | Chr8:67261729..68676568 [GRCh37] Chr8:8q13.1-13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.99+304C>A | single nucleotide variant | not provided [RCV001689388] | Chr8:67074655 [GRCh38] Chr8:67986890 [GRCh37] Chr8:8q13.1 |
benign |
NM_001382391.1(CSPP1):c.1093+279G>A | single nucleotide variant | not provided [RCV001561453] | Chr8:67106254 [GRCh38] Chr8:68018489 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.3469+163A>G | single nucleotide variant | not provided [RCV001556378] | Chr8:67193765 [GRCh38] Chr8:68106000 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.3464A>G (p.Asn1155Ser) | single nucleotide variant | Inborn genetic diseases [RCV003304220] | Chr8:67193597 [GRCh38] Chr8:68105832 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1643A>C (p.Gln548Pro) | single nucleotide variant | Inborn genetic diseases [RCV004973279]|Joubert syndrome 21 [RCV001044872]|not provided [RCV002269332] | Chr8:67118767 [GRCh38] Chr8:68031002 [GRCh37] Chr8:8q13.2 |
uncertain significance |
GRCh37/hg19 8q13.1-13.2(chr8:67828205-68074172)x3 | copy number gain | not provided [RCV001006110] | Chr8:67828205..68074172 [GRCh37] Chr8:8q13.1-13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1828-172A>C | single nucleotide variant | not provided [RCV001717241] | Chr8:67137284 [GRCh38] Chr8:68049519 [GRCh37] Chr8:8q13.2 |
benign |
NM_001382391.1(CSPP1):c.3330+237C>T | single nucleotide variant | not provided [RCV001717242] | Chr8:67190996 [GRCh38] Chr8:68103231 [GRCh37] Chr8:8q13.2 |
benign |
NM_001382391.1(CSPP1):c.2391+194T>A | single nucleotide variant | not provided [RCV001621379] | Chr8:67158790 [GRCh38] Chr8:68071025 [GRCh37] Chr8:8q13.2 |
benign |
NM_001382391.1(CSPP1):c.2128+35_2128+36del | deletion | Joubert syndrome 21 [RCV002073019]|not provided [RCV001657119] | Chr8:67149948..67149949 [GRCh38] Chr8:68062183..68062184 [GRCh37] Chr8:8q13.2 |
benign |
NM_001382391.1(CSPP1):c.100-150C>A | single nucleotide variant | not provided [RCV001595380] | Chr8:67076332 [GRCh38] Chr8:67988567 [GRCh37] Chr8:8q13.1 |
benign |
NM_001382391.1(CSPP1):c.2828+176A>G | single nucleotide variant | not provided [RCV001719258] | Chr8:67164684 [GRCh38] Chr8:68076919 [GRCh37] Chr8:8q13.2 |
benign |
NM_001382391.1(CSPP1):c.2129-260G>C | single nucleotide variant | not provided [RCV001686674] | Chr8:67153764 [GRCh38] Chr8:68065999 [GRCh37] Chr8:8q13.2 |
benign |
NM_001382391.1(CSPP1):c.2538+273A>G | single nucleotide variant | not provided [RCV001548649] | Chr8:67159410 [GRCh38] Chr8:68071645 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.3330+238T>G | single nucleotide variant | not provided [RCV001596249] | Chr8:67190997 [GRCh38] Chr8:68103232 [GRCh37] Chr8:8q13.2 |
benign |
NM_001382391.1(CSPP1):c.3331-94C>T | single nucleotide variant | not provided [RCV001678287] | Chr8:67193370 [GRCh38] Chr8:68105605 [GRCh37] Chr8:8q13.2 |
benign |
NM_001382391.1(CSPP1):c.1496+131A>G | single nucleotide variant | not provided [RCV001598988] | Chr8:67116253 [GRCh38] Chr8:68028488 [GRCh37] Chr8:8q13.2 |
benign |
NM_001382391.1(CSPP1):c.3188A>G (p.Asn1063Ser) | single nucleotide variant | Inborn genetic diseases [RCV002555852]|Joubert syndrome 21 [RCV001066592]|not provided [RCV002274133] | Chr8:67179894 [GRCh38] Chr8:68092129 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1497-3C>T | single nucleotide variant | Joubert syndrome 21 [RCV001046297] | Chr8:67118245 [GRCh38] Chr8:68030480 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.484-274G>A | single nucleotide variant | not provided [RCV001548313] | Chr8:67095019 [GRCh38] Chr8:68007254 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.2987A>C (p.Asp996Ala) | single nucleotide variant | Inborn genetic diseases [RCV002552611]|Joubert syndrome 21 [RCV001046893] | Chr8:67175314 [GRCh38] Chr8:68087549 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2829-240dup | duplication | not provided [RCV001680834] | Chr8:67172154..67172155 [GRCh38] Chr8:68084389..68084390 [GRCh37] Chr8:8q13.2 |
benign |
NM_001382391.1(CSPP1):c.3220+110dup | duplication | not provided [RCV001690292] | Chr8:67180023..67180024 [GRCh38] Chr8:68092258..68092259 [GRCh37] Chr8:8q13.2 |
benign |
NM_001382391.1(CSPP1):c.100-3C>T | single nucleotide variant | Joubert syndrome 21 [RCV001048004] | Chr8:67076479 [GRCh38] Chr8:67988714 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.2128+34_2128+36del | deletion | Joubert syndrome 21 [RCV002073228]|not provided [RCV001690378] | Chr8:67149948..67149950 [GRCh38] Chr8:68062183..68062185 [GRCh37] Chr8:8q13.2 |
benign |
NM_001382391.1(CSPP1):c.2129-96T>A | single nucleotide variant | not provided [RCV001615832] | Chr8:67153928 [GRCh38] Chr8:68066163 [GRCh37] Chr8:8q13.2 |
benign |
NM_001382391.1(CSPP1):c.3220+108_3220+110del | deletion | not provided [RCV001614600] | Chr8:67180024..67180026 [GRCh38] Chr8:68092259..68092261 [GRCh37] Chr8:8q13.2 |
benign |
NM_001382391.1(CSPP1):c.274C>T (p.Arg92Trp) | single nucleotide variant | Inborn genetic diseases [RCV002552076]|Joubert syndrome 21 [RCV001035051] | Chr8:67086081 [GRCh38] Chr8:67998316 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.3452A>G (p.Asn1151Ser) | single nucleotide variant | Inborn genetic diseases [RCV003283934]|Joubert syndrome 21 [RCV001059985] | Chr8:67193585 [GRCh38] Chr8:68105820 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NC_000008.11:g.(?_67111972)_(67218138_?)dup | duplication | Joubert syndrome 21 [RCV001032443] | Chr8:68024207..68130373 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2751A>C (p.Arg917Ser) | single nucleotide variant | Joubert syndrome 21 [RCV001060159]|not provided [RCV002051913] | Chr8:67164431 [GRCh38] Chr8:68076666 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3011C>T (p.Pro1004Leu) | single nucleotide variant | Joubert syndrome 21 [RCV001060348] | Chr8:67175338 [GRCh38] Chr8:68087573 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2701C>T (p.Arg901Cys) | single nucleotide variant | Inborn genetic diseases [RCV002551513]|Joubert syndrome 21 [RCV001042307] | Chr8:67163789 [GRCh38] Chr8:68076024 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2773A>G (p.Arg925Gly) | single nucleotide variant | Inborn genetic diseases [RCV002553905]|Joubert syndrome 21 [RCV001061529] | Chr8:67164453 [GRCh38] Chr8:68076688 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1325A>G (p.His442Arg) | single nucleotide variant | Joubert syndrome 21 [RCV001208581] | Chr8:67115951 [GRCh38] Chr8:68028186 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2981G>A (p.Arg994Gln) | single nucleotide variant | Joubert syndrome 21 [RCV001208673]|not provided [RCV001799743] | Chr8:67175308 [GRCh38] Chr8:68087543 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2234G>A (p.Arg745His) | single nucleotide variant | Joubert syndrome 21 [RCV001053711] | Chr8:67154129 [GRCh38] Chr8:68066364 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.254A>G (p.His85Arg) | single nucleotide variant | Inborn genetic diseases [RCV003246781]|Joubert syndrome 21 [RCV001230513] | Chr8:67086061 [GRCh38] Chr8:67998296 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.89T>C (p.Met30Thr) | single nucleotide variant | Joubert syndrome 21 [RCV001205997] | Chr8:67074341 [GRCh38] Chr8:67986576 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.2379_2380del (p.Lys794fs) | microsatellite | Joubert syndrome 21 [RCV001054611] | Chr8:67158579..67158580 [GRCh38] Chr8:68070814..68070815 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.940C>T (p.Arg314Ter) | single nucleotide variant | Joubert syndrome 21 [RCV001232522] | Chr8:67103053 [GRCh38] Chr8:68015288 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.821A>G (p.His274Arg) | single nucleotide variant | Inborn genetic diseases [RCV003259150]|Joubert syndrome 21 [RCV001207360]|not provided [RCV004695168] | Chr8:67095630 [GRCh38] Chr8:68007865 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.-101A>G | single nucleotide variant | Joubert syndrome 21 [RCV001041124]|not provided [RCV003322842] | Chr8:67064448 [GRCh38] Chr8:67976683 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.15G>A (p.Leu5=) | single nucleotide variant | Joubert syndrome 21 [RCV001236523] | Chr8:67074267 [GRCh38] Chr8:67986502 [GRCh37] Chr8:8q13.1 |
likely benign|uncertain significance |
NM_001382391.1(CSPP1):c.803T>A (p.Val268Asp) | single nucleotide variant | Joubert syndrome 21 [RCV001070592] | Chr8:67095612 [GRCh38] Chr8:68007847 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.3109G>A (p.Val1037Ile) | single nucleotide variant | Inborn genetic diseases [RCV002552064]|Joubert syndrome 21 [RCV001034776]|not provided [RCV003432994] | Chr8:67175436 [GRCh38] Chr8:68087671 [GRCh37] Chr8:8q13.2 |
likely benign|uncertain significance |
NM_001382391.1(CSPP1):c.1540A>G (p.Thr514Ala) | single nucleotide variant | Joubert syndrome 21 [RCV001038286] | Chr8:67118291 [GRCh38] Chr8:68030526 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2381_2382del (p.Lys794fs) | deletion | Joubert syndrome 21 [RCV001175331] | Chr8:67158585..67158586 [GRCh38] Chr8:68070820..68070821 [GRCh37] Chr8:8q13.2 |
likely pathogenic |
NM_001382391.1(CSPP1):c.509C>A (p.Pro170His) | single nucleotide variant | Inborn genetic diseases [RCV004031639]|Joubert syndrome 21 [RCV001052370] | Chr8:67095318 [GRCh38] Chr8:68007553 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.148A>G (p.Met50Val) | single nucleotide variant | Inborn genetic diseases [RCV003346288]|Joubert syndrome 21 [RCV001057087]|not provided [RCV002305565] | Chr8:67076530 [GRCh38] Chr8:67988765 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.1929A>T (p.Lys643Asn) | single nucleotide variant | Joubert syndrome 21 [RCV001233286] | Chr8:67137557 [GRCh38] Chr8:68049792 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.650A>G (p.Tyr217Cys) | single nucleotide variant | Joubert syndrome 21 [RCV001063581] | Chr8:67095459 [GRCh38] Chr8:68007694 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.1600G>A (p.Asp534Asn) | single nucleotide variant | Inborn genetic diseases [RCV002538854]|not provided [RCV001765795] | Chr8:67118351 [GRCh38] Chr8:68030586 [GRCh37] Chr8:8q13.2 |
uncertain significance |
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) | copy number gain | Polydactyly [RCV002280629] | Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
NM_001382391.1(CSPP1):c.132dup (p.Lys45Ter) | duplication | Inborn genetic diseases [RCV005318748]|Joubert syndrome 21 [RCV001332556]|not provided [RCV005251275] | Chr8:67076513..67076514 [GRCh38] Chr8:67988748..67988749 [GRCh37] Chr8:8q13.1 |
pathogenic |
NM_001382391.1(CSPP1):c.3341G>A (p.Arg1114His) | single nucleotide variant | Joubert syndrome 21 [RCV001262917]|not provided [RCV001773578] | Chr8:67193474 [GRCh38] Chr8:68105709 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.-143T>A | single nucleotide variant | Joubert syndrome 21 [RCV001908000]|not provided [RCV003434341] | Chr8:67064406 [GRCh38] Chr8:67976641 [GRCh37] Chr8:8q13.1 |
uncertain significance |
GRCh37/hg19 8q13.1-13.2(chr8:67744375-68387850)x3 | copy number gain | not provided [RCV001258413] | Chr8:67744375..68387850 [GRCh37] Chr8:8q13.1-13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.-149T>A | single nucleotide variant | Joubert syndrome 21 [RCV001349234] | Chr8:67064400 [GRCh38] Chr8:67976635 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.1056T>A (p.Asn352Lys) | single nucleotide variant | Joubert syndrome 21 [RCV001350216] | Chr8:67105938 [GRCh38] Chr8:68018173 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2420G>A (p.Arg807Gln) | single nucleotide variant | Inborn genetic diseases [RCV002543783]|Joubert syndrome 21 [RCV001319717]|not provided [RCV001562837] | Chr8:67159019 [GRCh38] Chr8:68071254 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3653G>C (p.Trp1218Ser) | single nucleotide variant | Joubert syndrome 21 [RCV001301361] | Chr8:67195565 [GRCh38] Chr8:68107800 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2910G>C (p.Lys970Asn) | single nucleotide variant | Joubert syndrome 21 [RCV001295546] | Chr8:67172497 [GRCh38] Chr8:68084732 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.935A>G (p.Asn312Ser) | single nucleotide variant | Inborn genetic diseases [RCV004978299]|Joubert syndrome 21 [RCV001314183] | Chr8:67103048 [GRCh38] Chr8:68015283 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1703C>T (p.Thr568Met) | single nucleotide variant | Joubert syndrome 21 [RCV001327104] | Chr8:67131956 [GRCh38] Chr8:68044191 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2866G>T (p.Ala956Ser) | single nucleotide variant | Joubert syndrome 21 [RCV001319284] | Chr8:67172453 [GRCh38] Chr8:68084688 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NC_000008.10:g.(?_68024207)_(68130373_?)dup | duplication | Joubert syndrome 21 [RCV001305615] | Chr8:68024207..68130373 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2018A>G (p.His673Arg) | single nucleotide variant | Joubert syndrome 21 [RCV001325997]|not provided [RCV005225369] | Chr8:67149825 [GRCh38] Chr8:68062060 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2226T>A (p.Asn742Lys) | single nucleotide variant | Joubert syndrome 21 [RCV001319793] | Chr8:67154121 [GRCh38] Chr8:68066356 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3040C>A (p.Gln1014Lys) | single nucleotide variant | Inborn genetic diseases [RCV004978362]|Joubert syndrome 21 [RCV001340212] | Chr8:67175367 [GRCh38] Chr8:68087602 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3292C>T (p.Arg1098Trp) | single nucleotide variant | Joubert syndrome 21 [RCV001332557] | Chr8:67190721 [GRCh38] Chr8:68102956 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.959T>G (p.Met320Arg) | single nucleotide variant | Joubert syndrome 21 [RCV001333224] | Chr8:67103072 [GRCh38] Chr8:68015307 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.8A>C (p.Asp3Ala) | single nucleotide variant | Joubert syndrome 21 [RCV001348479] | Chr8:67074260 [GRCh38] Chr8:67986495 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.1975+4C>T | single nucleotide variant | Joubert syndrome 21 [RCV001320843] | Chr8:67137607 [GRCh38] Chr8:68049842 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.-75C>T | single nucleotide variant | Joubert syndrome 21 [RCV001318628] | Chr8:67064474 [GRCh38] Chr8:67976709 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.2121A>G (p.Lys707=) | single nucleotide variant | Joubert syndrome 21 [RCV001422524] | Chr8:67149928 [GRCh38] Chr8:68062163 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2920G>A (p.Ala974Thr) | single nucleotide variant | Joubert syndrome 21 [RCV001313918] | Chr8:67172507 [GRCh38] Chr8:68084742 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2301A>G (p.Glu767=) | single nucleotide variant | Joubert syndrome 21 [RCV001422282] | Chr8:67158506 [GRCh38] Chr8:68070741 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1544_1547del (p.Asn515fs) | microsatellite | Joubert syndrome 21 [RCV001382448] | Chr8:67118291..67118294 [GRCh38] Chr8:68030526..68030529 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.2812G>C (p.Asp938His) | single nucleotide variant | Joubert syndrome 21 [RCV001352486] | Chr8:67164492 [GRCh38] Chr8:68076727 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2886T>A (p.Ala962=) | single nucleotide variant | Joubert syndrome 21 [RCV001433225] | Chr8:67172473 [GRCh38] Chr8:68084708 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1775C>G (p.Pro592Arg) | single nucleotide variant | CSPP1-related disorder [RCV004757406]|Inborn genetic diseases [RCV004035168]|Joubert syndrome 21 [RCV001325557] | Chr8:67132028 [GRCh38] Chr8:68044263 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2094T>C (p.Ala698=) | single nucleotide variant | Joubert syndrome 21 [RCV001433875] | Chr8:67149901 [GRCh38] Chr8:68062136 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.3496G>C (p.Asp1166His) | single nucleotide variant | Joubert syndrome 21 [RCV001351278] | Chr8:67195408 [GRCh38] Chr8:68107643 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.958A>G (p.Met320Val) | single nucleotide variant | Inborn genetic diseases [RCV002548633]|Joubert syndrome 21 [RCV001369958] | Chr8:67103071 [GRCh38] Chr8:68015306 [GRCh37] Chr8:8q13.2 |
likely benign|uncertain significance |
NM_001382391.1(CSPP1):c.3579G>A (p.Thr1193=) | single nucleotide variant | Joubert syndrome 21 [RCV001392648] | Chr8:67195491 [GRCh38] Chr8:68107726 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1009G>T (p.Ala337Ser) | single nucleotide variant | Joubert syndrome 21 [RCV001294313] | Chr8:67103122 [GRCh38] Chr8:68015357 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.809A>T (p.Asp270Val) | single nucleotide variant | Joubert syndrome 21 [RCV001351831] | Chr8:67095618 [GRCh38] Chr8:68007853 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.2241+9C>G | single nucleotide variant | Joubert syndrome 21 [RCV001323781] | Chr8:67154145 [GRCh38] Chr8:68066380 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1568C>A (p.Ala523Glu) | single nucleotide variant | Inborn genetic diseases [RCV003263985]|Joubert syndrome 21 [RCV001346373] | Chr8:67118319 [GRCh38] Chr8:68030554 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2284C>A (p.Leu762Met) | single nucleotide variant | Joubert syndrome 21 [RCV001373541]|not provided [RCV003433125] | Chr8:67158489 [GRCh38] Chr8:68070724 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.844G>T (p.Val282Leu) | single nucleotide variant | Joubert syndrome 21 [RCV001321517] | Chr8:67095653 [GRCh38] Chr8:68007888 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.3472dup (p.Asp1158fs) | duplication | Joubert syndrome 21 [RCV001323878] | Chr8:67195383..67195384 [GRCh38] Chr8:68107618..68107619 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NC_000008.11:g.67195383TGA[3] | microsatellite | Joubert syndrome 21 [RCV001362942] | Chr8:67195380..67195381 [GRCh38] Chr8:68107615..68107616 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NC_000008.10:g.(?_67786376)_(68165857_?)dup | duplication | Joubert syndrome 21 [RCV001346674] | Chr8:67786376..68165857 [GRCh37] Chr8:8q13.1-13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.989C>T (p.Ser330Leu) | single nucleotide variant | Joubert syndrome 21 [RCV001346703] | Chr8:67103102 [GRCh38] Chr8:68015337 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2524G>A (p.Gly842Arg) | single nucleotide variant | Joubert syndrome 21 [RCV001359070] | Chr8:67159123 [GRCh38] Chr8:68071358 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.800G>A (p.Arg267His) | single nucleotide variant | Joubert syndrome 21 [RCV001359167] | Chr8:67095609 [GRCh38] Chr8:68007844 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.902C>T (p.Ser301Leu) | single nucleotide variant | Joubert syndrome 21 [RCV001359424] | Chr8:67095711 [GRCh38] Chr8:68007946 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.2702G>A (p.Arg901His) | single nucleotide variant | Joubert syndrome 21 [RCV001327473] | Chr8:67163790 [GRCh38] Chr8:68076025 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.303+3A>T | single nucleotide variant | Joubert syndrome 21 [RCV001320372]|not provided [RCV004692485] | Chr8:67086113 [GRCh38] Chr8:67998348 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NC_000008.10:g.(?_68105699)_(68105837_?)del | deletion | Joubert syndrome 21 [RCV001316683] | Chr8:68105699..68105837 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NC_000008.10:g.(?_68024197)_(68107828_?)dup | duplication | Joubert syndrome 21 [RCV001316684] | Chr8:68024197..68107828 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.761G>A (p.Gly254Asp) | single nucleotide variant | Joubert syndrome 21 [RCV001347044] | Chr8:67095570 [GRCh38] Chr8:68007805 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.3355C>A (p.Pro1119Thr) | single nucleotide variant | Joubert syndrome 21 [RCV001361294] | Chr8:67193488 [GRCh38] Chr8:68105723 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3587G>A (p.Arg1196His) | single nucleotide variant | Inborn genetic diseases [RCV003169682]|Joubert syndrome 21 [RCV001346130] | Chr8:67195499 [GRCh38] Chr8:68107734 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2828+2C>T | single nucleotide variant | Joubert syndrome 21 [RCV001324274] | Chr8:67164510 [GRCh38] Chr8:68076745 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1571A>T (p.Tyr524Phe) | single nucleotide variant | Joubert syndrome 21 [RCV001346146] | Chr8:67118322 [GRCh38] Chr8:68030557 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1034A>G (p.Asn345Ser) | single nucleotide variant | Joubert syndrome 21 [RCV001313425] | Chr8:67105916 [GRCh38] Chr8:68018151 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2129-16A>G | single nucleotide variant | Joubert syndrome 21 [RCV001317956] | Chr8:67154008 [GRCh38] Chr8:68066243 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2629C>T (p.Arg877Cys) | single nucleotide variant | Joubert syndrome 21 [RCV001323449] | Chr8:67161901 [GRCh38] Chr8:68074136 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2114C>A (p.Ala705Glu) | single nucleotide variant | Joubert syndrome 21 [RCV001341437] | Chr8:67149921 [GRCh38] Chr8:68062156 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3533_3536dup (p.Val1180fs) | duplication | Joubert syndrome 21 [RCV001343033] | Chr8:67195444..67195445 [GRCh38] Chr8:68107679..68107680 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2409_2411del (p.Glu804del) | deletion | Joubert syndrome 21 [RCV001349993] | Chr8:67159006..67159008 [GRCh38] Chr8:68071241..68071243 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2419C>T (p.Arg807Trp) | single nucleotide variant | Inborn genetic diseases [RCV002548555]|Joubert syndrome 21 [RCV001363610] | Chr8:67159018 [GRCh38] Chr8:68071253 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1138A>G (p.Arg380Gly) | single nucleotide variant | Joubert syndrome 21 [RCV001300946] | Chr8:67112016 [GRCh38] Chr8:68024251 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2464GAA[3] (p.Glu825del) | microsatellite | Joubert syndrome 21 [RCV001322560] | Chr8:67159061..67159063 [GRCh38] Chr8:68071296..68071298 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1502C>T (p.Ala501Val) | single nucleotide variant | Joubert syndrome 21 [RCV001360010] | Chr8:67118253 [GRCh38] Chr8:68030488 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3040C>G (p.Gln1014Glu) | single nucleotide variant | Joubert syndrome 21 [RCV001363778] | Chr8:67175367 [GRCh38] Chr8:68087602 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2387A>G (p.Glu796Gly) | single nucleotide variant | Joubert syndrome 21 [RCV001370976] | Chr8:67158592 [GRCh38] Chr8:68070827 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.-128C>T | single nucleotide variant | CSPP1-related disorder [RCV004757404]|Joubert syndrome 21 [RCV001319719] | Chr8:67064421 [GRCh38] Chr8:67976656 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.-10-5T>A | single nucleotide variant | Joubert syndrome 21 [RCV001364530] | Chr8:67074238 [GRCh38] Chr8:67986473 [GRCh37] Chr8:8q13.1 |
likely benign|uncertain significance |
NM_001382391.1(CSPP1):c.1767_1769del (p.Glu589del) | deletion | Joubert syndrome 21 [RCV001359875] | Chr8:67132018..67132020 [GRCh38] Chr8:68044253..68044255 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3529T>G (p.Ser1177Ala) | single nucleotide variant | Joubert syndrome 21 [RCV001350382]|not provided [RCV002545627] | Chr8:67195441 [GRCh38] Chr8:68107676 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.*3_*6dup (p.Ter1227=) | duplication | Joubert syndrome 21 [RCV001324825] | Chr8:67195592..67195593 [GRCh38] Chr8:68107827..68107828 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2129G>T (p.Gly710Val) | single nucleotide variant | Joubert syndrome 21 [RCV001337637] | Chr8:67154024 [GRCh38] Chr8:68066259 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3613G>C (p.Glu1205Gln) | single nucleotide variant | Joubert syndrome 21 [RCV001371159] | Chr8:67195525 [GRCh38] Chr8:68107760 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2245G>A (p.Glu749Lys) | single nucleotide variant | Joubert syndrome 21 [RCV001366546] | Chr8:67158450 [GRCh38] Chr8:68070685 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2522T>C (p.Ile841Thr) | single nucleotide variant | Inborn genetic diseases [RCV004035146]|Joubert syndrome 21 [RCV001324953] | Chr8:67159121 [GRCh38] Chr8:68071356 [GRCh37] Chr8:8q13.2 |
likely benign|uncertain significance |
NM_001382391.1(CSPP1):c.3361G>A (p.Gly1121Ser) | single nucleotide variant | Joubert syndrome 21 [RCV001305709] | Chr8:67193494 [GRCh38] Chr8:68105729 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.769G>T (p.Asp257Tyr) | single nucleotide variant | Inborn genetic diseases [RCV005318705]|Joubert syndrome 21 [RCV001296227]|not provided [RCV001562169] | Chr8:67095578 [GRCh38] Chr8:68007813 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.2692A>C (p.Asn898His) | single nucleotide variant | Joubert syndrome 21 [RCV001314883] | Chr8:67163780 [GRCh38] Chr8:68076015 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.-80C>G | single nucleotide variant | Joubert syndrome 21 [RCV001367603] | Chr8:67064469 [GRCh38] Chr8:67976704 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.1827+5T>C | single nucleotide variant | Joubert syndrome 21 [RCV001369359] | Chr8:67132085 [GRCh38] Chr8:68044320 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.797A>G (p.Asp266Gly) | single nucleotide variant | Joubert syndrome 21 [RCV001296577] | Chr8:67095606 [GRCh38] Chr8:68007841 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.3520G>C (p.Asp1174His) | single nucleotide variant | Joubert syndrome 21 [RCV001325759] | Chr8:67195432 [GRCh38] Chr8:68107667 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.500A>G (p.Asn167Ser) | single nucleotide variant | Joubert syndrome 21 [RCV001303489] | Chr8:67095309 [GRCh38] Chr8:68007544 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.2521_2524del (p.Ile841fs) | deletion | Joubert syndrome 21 [RCV001333223] | Chr8:67159117..67159120 [GRCh38] Chr8:68071352..68071355 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.3109+5G>C | single nucleotide variant | Joubert syndrome 21 [RCV001365710] | Chr8:67175441 [GRCh38] Chr8:68087676 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1497-13T>C | single nucleotide variant | Joubert syndrome 21 [RCV001494756] | Chr8:67118235 [GRCh38] Chr8:68030470 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1515A>G (p.Pro505=) | single nucleotide variant | Joubert syndrome 21 [RCV001505594] | Chr8:67118266 [GRCh38] Chr8:68030501 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2199G>A (p.Gln733=) | single nucleotide variant | Joubert syndrome 21 [RCV001450462] | Chr8:67154094 [GRCh38] Chr8:68066329 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2316G>A (p.Arg772=) | single nucleotide variant | Joubert syndrome 21 [RCV001441401] | Chr8:67158521 [GRCh38] Chr8:68070756 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2968+10T>C | single nucleotide variant | Joubert syndrome 21 [RCV001467223] | Chr8:67172565 [GRCh38] Chr8:68084800 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2772G>A (p.Glu924=) | single nucleotide variant | Joubert syndrome 21 [RCV001451618]|not provided [RCV003434236] | Chr8:67164452 [GRCh38] Chr8:68076687 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2980C>T (p.Arg994Ter) | single nucleotide variant | Joubert syndrome 21 [RCV001380746] | Chr8:67175307 [GRCh38] Chr8:68087542 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.3157-15A>G | single nucleotide variant | Joubert syndrome 21 [RCV001475486] | Chr8:67179848 [GRCh38] Chr8:68092083 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.744G>A (p.Arg248=) | single nucleotide variant | Joubert syndrome 21 [RCV001402791] | Chr8:67095553 [GRCh38] Chr8:68007788 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.1995C>T (p.His665=) | single nucleotide variant | CSPP1-related disorder [RCV003973242]|Joubert syndrome 21 [RCV001405498] | Chr8:67149802 [GRCh38] Chr8:68062037 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2829-6C>A | single nucleotide variant | CSPP1-related disorder [RCV003921021]|Joubert syndrome 21 [RCV001482838] | Chr8:67172410 [GRCh38] Chr8:68084645 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2619C>T (p.Asp873=) | single nucleotide variant | Joubert syndrome 21 [RCV001497151] | Chr8:67161891 [GRCh38] Chr8:68074126 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2688G>A (p.Arg896=) | single nucleotide variant | Joubert syndrome 21 [RCV001442182] | Chr8:67163776 [GRCh38] Chr8:68076011 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.972G>C (p.Gly324=) | single nucleotide variant | Joubert syndrome 21 [RCV001405720] | Chr8:67103085 [GRCh38] Chr8:68015320 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1623T>C (p.Gly541=) | single nucleotide variant | Joubert syndrome 21 [RCV001497873] | Chr8:67118747 [GRCh38] Chr8:68030982 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.285C>T (p.Tyr95=) | single nucleotide variant | Joubert syndrome 21 [RCV001489549] | Chr8:67086092 [GRCh38] Chr8:67998327 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.2128+1G>A | single nucleotide variant | Joubert syndrome 21 [RCV001377061] | Chr8:67149936 [GRCh38] Chr8:68062171 [GRCh37] Chr8:8q13.2 |
likely pathogenic |
NM_001382391.1(CSPP1):c.2784A>G (p.Gln928=) | single nucleotide variant | Joubert syndrome 21 [RCV001467402] | Chr8:67164464 [GRCh38] Chr8:68076699 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.123T>G (p.Ser41=) | single nucleotide variant | Joubert syndrome 21 [RCV001474842] | Chr8:67076505 [GRCh38] Chr8:67988740 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.214T>C (p.Leu72=) | single nucleotide variant | CSPP1-related disorder [RCV004757429]|Joubert syndrome 21 [RCV001409582] | Chr8:67086021 [GRCh38] Chr8:67998256 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.2032A>C (p.Arg678=) | single nucleotide variant | Joubert syndrome 21 [RCV001406982] | Chr8:67149839 [GRCh38] Chr8:68062074 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.489G>A (p.Lys163=) | single nucleotide variant | Joubert syndrome 21 [RCV001407637] | Chr8:67095298 [GRCh38] Chr8:68007533 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.2643+7A>G | single nucleotide variant | Joubert syndrome 21 [RCV001444562] | Chr8:67161922 [GRCh38] Chr8:68074157 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2539-5T>C | single nucleotide variant | Joubert syndrome 21 [RCV001436323] | Chr8:67161806 [GRCh38] Chr8:68074041 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2953G>A (p.Glu985Lys) | single nucleotide variant | Joubert syndrome 21 [RCV001405956]|not provided [RCV005253845] | Chr8:67172540 [GRCh38] Chr8:68084775 [GRCh37] Chr8:8q13.2 |
likely benign|uncertain significance |
NM_001382391.1(CSPP1):c.199+14T>A | single nucleotide variant | Joubert syndrome 21 [RCV001442493] | Chr8:67076595 [GRCh38] Chr8:67988830 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.-76C>T | single nucleotide variant | Joubert syndrome 21 [RCV001415936] | Chr8:67064473 [GRCh38] Chr8:67976708 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.2919C>T (p.Asp973=) | single nucleotide variant | Joubert syndrome 21 [RCV001411009] | Chr8:67172506 [GRCh38] Chr8:68084741 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.3258C>T (p.Asp1086=) | single nucleotide variant | CSPP1-related disorder [RCV003938755]|Joubert syndrome 21 [RCV001434970] | Chr8:67190687 [GRCh38] Chr8:68102922 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1470C>T (p.Ser490=) | single nucleotide variant | Joubert syndrome 21 [RCV001411278]|not provided [RCV001565352] | Chr8:67116096 [GRCh38] Chr8:68028331 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.3406_3407insTATA (p.Arg1136delinsIleTer) | microsatellite | Joubert syndrome 21 [RCV001385755] | Chr8:67193537..67193538 [GRCh38] Chr8:68105772..68105773 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.-96C>T | single nucleotide variant | Joubert syndrome 21 [RCV001404211] | Chr8:67064453 [GRCh38] Chr8:67976688 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.2841G>A (p.Arg947=) | single nucleotide variant | Joubert syndrome 21 [RCV001448363] | Chr8:67172428 [GRCh38] Chr8:68084663 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.496A>C (p.Arg166=) | single nucleotide variant | Joubert syndrome 21 [RCV001440687] | Chr8:67095305 [GRCh38] Chr8:68007540 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.2829-218A>G | single nucleotide variant | not provided [RCV001655324] | Chr8:67172198 [GRCh38] Chr8:68084433 [GRCh37] Chr8:8q13.2 |
benign |
NM_001382391.1(CSPP1):c.2242-19A>T | single nucleotide variant | Joubert syndrome 21 [RCV001482656] | Chr8:67158428 [GRCh38] Chr8:68070663 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2969-252A>G | single nucleotide variant | not provided [RCV001686288] | Chr8:67175044 [GRCh38] Chr8:68087279 [GRCh37] Chr8:8q13.2 |
benign |
NM_001382391.1(CSPP1):c.1023-20del | deletion | Joubert syndrome 21 [RCV001519841] | Chr8:67105885 [GRCh38] Chr8:68018120 [GRCh37] Chr8:8q13.2 |
benign |
NM_001382391.1(CSPP1):c.1094-152_1094-150del | microsatellite | not provided [RCV001691131] | Chr8:67111816..67111818 [GRCh38] Chr8:68024051..68024053 [GRCh37] Chr8:8q13.2 |
benign |
NM_001382391.1(CSPP1):c.1187+187T>G | single nucleotide variant | not provided [RCV001589404] | Chr8:67112252 [GRCh38] Chr8:68024487 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2538+145A>C | single nucleotide variant | not provided [RCV001686374] | Chr8:67159282 [GRCh38] Chr8:68071517 [GRCh37] Chr8:8q13.2 |
benign |
NM_001382391.1(CSPP1):c.1638C>T (p.Gly546=) | single nucleotide variant | Joubert syndrome 21 [RCV001500366] | Chr8:67118762 [GRCh38] Chr8:68030997 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.-82G>C | single nucleotide variant | Joubert syndrome 21 [RCV001466992] | Chr8:67064467 [GRCh38] Chr8:67976702 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.2391+7C>G | single nucleotide variant | Joubert syndrome 21 [RCV001489080] | Chr8:67158603 [GRCh38] Chr8:68070838 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1827+249C>G | single nucleotide variant | not provided [RCV001670197] | Chr8:67132329 [GRCh38] Chr8:68044564 [GRCh37] Chr8:8q13.2 |
benign |
NM_001382391.1(CSPP1):c.-11+166dup | duplication | not provided [RCV001710671] | Chr8:67064700..67064701 [GRCh38] Chr8:67976935..67976936 [GRCh37] Chr8:8q13.1 |
benign |
NM_001382391.1(CSPP1):c.3661C>T (p.Leu1221=) | single nucleotide variant | Joubert syndrome 21 [RCV001441974] | Chr8:67195573 [GRCh38] Chr8:68107808 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.297T>C (p.Leu99=) | single nucleotide variant | Joubert syndrome 21 [RCV001473071] | Chr8:67086104 [GRCh38] Chr8:67998339 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.2539-13_2539-4del | deletion | Joubert syndrome 21 [RCV001485851] | Chr8:67161794..67161803 [GRCh38] Chr8:68074029..68074038 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.532C>T (p.Leu178=) | single nucleotide variant | Joubert syndrome 21 [RCV001497800] | Chr8:67095341 [GRCh38] Chr8:68007576 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.666T>C (p.Asp222=) | single nucleotide variant | Joubert syndrome 21 [RCV001504711] | Chr8:67095475 [GRCh38] Chr8:68007710 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.2539-4del | deletion | Joubert syndrome 21 [RCV001518829] | Chr8:67161803 [GRCh38] Chr8:68074038 [GRCh37] Chr8:8q13.2 |
benign |
NM_001382391.1(CSPP1):c.1023-9T>C | single nucleotide variant | Joubert syndrome 21 [RCV001452532] | Chr8:67105896 [GRCh38] Chr8:68018131 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.924-11G>A | single nucleotide variant | Joubert syndrome 21 [RCV001513397]|not provided [RCV001567211] | Chr8:67103026 [GRCh38] Chr8:68015261 [GRCh37] Chr8:8q13.2 |
benign|likely benign |
NM_001382391.1(CSPP1):c.1872A>G (p.Lys624=) | single nucleotide variant | Joubert syndrome 21 [RCV001442826] | Chr8:67137500 [GRCh38] Chr8:68049735 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.200-5dup | duplication | CSPP1-related disorder [RCV003921110]|Joubert syndrome 21 [RCV001514949] | Chr8:67085994..67085995 [GRCh38] Chr8:67998229..67998230 [GRCh37] Chr8:8q13.1 |
benign|likely benign |
NM_001382391.1(CSPP1):c.1619-4T>C | single nucleotide variant | Joubert syndrome 21 [RCV001467548] | Chr8:67118739 [GRCh38] Chr8:68030974 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.3387T>C (p.Ser1129=) | single nucleotide variant | Joubert syndrome 21 [RCV001451746] | Chr8:67193520 [GRCh38] Chr8:68105755 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1911A>T (p.Thr637=) | single nucleotide variant | Joubert syndrome 21 [RCV001418140] | Chr8:67137539 [GRCh38] Chr8:68049774 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.3331-7A>C | single nucleotide variant | Joubert syndrome 21 [RCV001500800] | Chr8:67193457 [GRCh38] Chr8:68105692 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.3156+16C>A | single nucleotide variant | Joubert syndrome 21 [RCV001436807] | Chr8:67177742 [GRCh38] Chr8:68089977 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.964C>T (p.His322Tyr) | single nucleotide variant | CSPP1-related disorder [RCV004757426]|Joubert syndrome 21 [RCV001400146] | Chr8:67103077 [GRCh38] Chr8:68015312 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1569A>T (p.Ala523=) | single nucleotide variant | Joubert syndrome 21 [RCV001503899] | Chr8:67118320 [GRCh38] Chr8:68030555 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2129-2A>G | single nucleotide variant | Joubert syndrome 21 [RCV001377434] | Chr8:67154022 [GRCh38] Chr8:68066257 [GRCh37] Chr8:8q13.2 |
likely pathogenic |
NM_001382391.1(CSPP1):c.-112G>C | single nucleotide variant | Joubert syndrome 21 [RCV001485462]|not provided [RCV004809637] | Chr8:67064437 [GRCh38] Chr8:67976672 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.3331-10C>T | single nucleotide variant | Joubert syndrome 21 [RCV001418830] | Chr8:67193454 [GRCh38] Chr8:68105689 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1554T>G (p.Thr518=) | single nucleotide variant | Joubert syndrome 21 [RCV001472368] | Chr8:67118305 [GRCh38] Chr8:68030540 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.3420G>A (p.Glu1140=) | single nucleotide variant | Joubert syndrome 21 [RCV001462378] | Chr8:67193553 [GRCh38] Chr8:68105788 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.414A>G (p.Glu138=) | single nucleotide variant | Joubert syndrome 21 [RCV001399298] | Chr8:67093572 [GRCh38] Chr8:68005807 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.3232G>C (p.Glu1078Gln) | single nucleotide variant | Joubert syndrome 21 [RCV003108844] | Chr8:67190661 [GRCh38] Chr8:68102896 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2804A>G (p.Asp935Gly) | single nucleotide variant | Inborn genetic diseases [RCV004040007]|Joubert syndrome 21 [RCV002538688]|not provided [RCV001727453] | Chr8:67164484 [GRCh38] Chr8:68076719 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.-85T>C | single nucleotide variant | Joubert syndrome 21 [RCV002186369] | Chr8:67064464 [GRCh38] Chr8:67976699 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.1187+19T>A | single nucleotide variant | Joubert syndrome 21 [RCV003104753] | Chr8:67112084 [GRCh38] Chr8:68024319 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.271T>A (p.Leu91Met) | single nucleotide variant | Inborn genetic diseases [RCV002540312]|Joubert syndrome 21 [RCV001861112]|not provided [RCV001760693] | Chr8:67086078 [GRCh38] Chr8:67998313 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.1222G>C (p.Gly408Arg) | single nucleotide variant | not provided [RCV001772739] | Chr8:67113839 [GRCh38] Chr8:68026074 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.400G>C (p.Glu134Gln) | single nucleotide variant | Inborn genetic diseases [RCV003264078]|not provided [RCV001773830] | Chr8:67093558 [GRCh38] Chr8:68005793 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.973G>A (p.Asp325Asn) | single nucleotide variant | not provided [RCV001754946] | Chr8:67103086 [GRCh38] Chr8:68015321 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.758C>T (p.Ala253Val) | single nucleotide variant | not provided [RCV001769453] | Chr8:67095567 [GRCh38] Chr8:68007802 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.1976C>G (p.Thr659Ser) | single nucleotide variant | not provided [RCV001771103] | Chr8:67149783 [GRCh38] Chr8:68062018 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1186C>T (p.Arg396Ter) | single nucleotide variant | Joubert syndrome 21 [RCV001775247] | Chr8:67112064 [GRCh38] Chr8:68024299 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.2332G>A (p.Ala778Thr) | single nucleotide variant | Joubert syndrome 21 [RCV002034637]|not provided [RCV001787672] | Chr8:67158537 [GRCh38] Chr8:68070772 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1217C>T (p.Ala406Val) | single nucleotide variant | Joubert syndrome 21 [RCV002544376]|not provided [RCV001800075] | Chr8:67113834 [GRCh38] Chr8:68026069 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3142C>T (p.Arg1048Ter) | single nucleotide variant | Joubert syndrome 21 [RCV001780586] | Chr8:67177712 [GRCh38] Chr8:68089947 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.2538+1G>T | single nucleotide variant | Joubert syndrome 21 [RCV001780587] | Chr8:67159138 [GRCh38] Chr8:68071373 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.2552del (p.Pro851fs) | deletion | Joubert syndrome 21 [RCV001780886] | Chr8:67161823 [GRCh38] Chr8:68074058 [GRCh37] Chr8:8q13.2 |
likely pathogenic |
NM_001382391.1(CSPP1):c.1793C>T (p.Ser598Leu) | single nucleotide variant | Joubert syndrome 21 [RCV001868588]|not provided [RCV001769319] | Chr8:67132046 [GRCh38] Chr8:68044281 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2006T>C (p.Ile669Thr) | single nucleotide variant | Joubert syndrome 21 [RCV002539902]|not provided [RCV001758035] | Chr8:67149813 [GRCh38] Chr8:68062048 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2008G>A (p.Asp670Asn) | single nucleotide variant | not provided [RCV001758752] | Chr8:67149815 [GRCh38] Chr8:68062050 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1957G>A (p.Ala653Thr) | single nucleotide variant | not provided [RCV001786860] | Chr8:67137585 [GRCh38] Chr8:68049820 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1822C>T (p.Gln608Ter) | single nucleotide variant | Joubert syndrome 21 [RCV001780585] | Chr8:67132075 [GRCh38] Chr8:68044310 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.1684G>A (p.Ala562Thr) | single nucleotide variant | Joubert syndrome 21 [RCV002544104]|not provided [RCV001752813] | Chr8:67118808 [GRCh38] Chr8:68031043 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2903C>A (p.Ser968Tyr) | single nucleotide variant | not provided [RCV004801501] | Chr8:67172490 [GRCh38] Chr8:68084725 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.-150A>C | single nucleotide variant | not specified [RCV001822817] | Chr8:67064399 [GRCh38] Chr8:67976634 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.262A>G (p.Lys88Glu) | single nucleotide variant | Joubert syndrome 21 [RCV001874641] | Chr8:67086069 [GRCh38] Chr8:67998304 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.275G>A (p.Arg92Gln) | single nucleotide variant | Joubert syndrome 21 [RCV002043857] | Chr8:67086082 [GRCh38] Chr8:67998317 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.1834G>T (p.Glu612Ter) | single nucleotide variant | Joubert syndrome 21 [RCV001949545] | Chr8:67137462 [GRCh38] Chr8:68049697 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.1416A>G (p.Pro472=) | single nucleotide variant | Joubert syndrome 21 [RCV001896555] | Chr8:67116042 [GRCh38] Chr8:68028277 [GRCh37] Chr8:8q13.2 |
likely benign|uncertain significance |
NC_000008.10:g.(?_68105679)_(68105857_?)del | deletion | Joubert syndrome 21 [RCV001950636] | Chr8:68105679..68105857 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1928A>G (p.Lys643Arg) | single nucleotide variant | Joubert syndrome 21 [RCV001929579] | Chr8:67137556 [GRCh38] Chr8:68049791 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.513T>A (p.Ile171=) | single nucleotide variant | Joubert syndrome 21 [RCV001950387] | Chr8:67095322 [GRCh38] Chr8:68007557 [GRCh37] Chr8:8q13.1 |
likely benign|uncertain significance |
NM_001382391.1(CSPP1):c.289C>T (p.Arg97Cys) | single nucleotide variant | Inborn genetic diseases [RCV004046250]|Joubert syndrome 21 [RCV002040436] | Chr8:67086096 [GRCh38] Chr8:67998331 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.3229G>A (p.Gly1077Ser) | single nucleotide variant | Joubert syndrome 21 [RCV001823498] | Chr8:67190658 [GRCh38] Chr8:68102893 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3029C>T (p.Thr1010Ile) | single nucleotide variant | Joubert syndrome 21 [RCV001863525] | Chr8:67175356 [GRCh38] Chr8:68087591 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2677G>A (p.Val893Ile) | single nucleotide variant | Joubert syndrome 21 [RCV001950082] | Chr8:67163765 [GRCh38] Chr8:68076000 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1372A>G (p.Thr458Ala) | single nucleotide variant | Joubert syndrome 21 [RCV001971230] | Chr8:67115998 [GRCh38] Chr8:68028233 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2305GAA[1] (p.Glu770del) | microsatellite | Joubert syndrome 21 [RCV001864528] | Chr8:67158508..67158510 [GRCh38] Chr8:68070743..68070745 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1241A>T (p.Lys414Ile) | single nucleotide variant | Inborn genetic diseases [RCV004042339]|Joubert syndrome 21 [RCV001971537] | Chr8:67113858 [GRCh38] Chr8:68026093 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2906C>G (p.Pro969Arg) | single nucleotide variant | Joubert syndrome 21 [RCV002024294] | Chr8:67172493 [GRCh38] Chr8:68084728 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.32A>C (p.Glu11Ala) | single nucleotide variant | Joubert syndrome 21 [RCV001872286] | Chr8:67074284 [GRCh38] Chr8:67986519 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.2066T>C (p.Leu689Pro) | single nucleotide variant | Joubert syndrome 21 [RCV001908161] | Chr8:67149873 [GRCh38] Chr8:68062108 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3620A>G (p.Gln1207Arg) | single nucleotide variant | Inborn genetic diseases [RCV004612072]|Joubert syndrome 21 [RCV002008355] | Chr8:67195532 [GRCh38] Chr8:68107767 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2654T>C (p.Met885Thr) | single nucleotide variant | Joubert syndrome 21 [RCV002007840] | Chr8:67163742 [GRCh38] Chr8:68075977 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3559C>T (p.Arg1187Cys) | single nucleotide variant | Joubert syndrome 21 [RCV001949923] | Chr8:67195471 [GRCh38] Chr8:68107706 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2234G>C (p.Arg745Pro) | single nucleotide variant | Joubert syndrome 21 [RCV001896106] | Chr8:67154129 [GRCh38] Chr8:68066364 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1336A>G (p.Met446Val) | single nucleotide variant | Joubert syndrome 21 [RCV001929479] | Chr8:67115962 [GRCh38] Chr8:68028197 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2480A>G (p.Tyr827Cys) | single nucleotide variant | Inborn genetic diseases [RCV004041905]|Joubert syndrome 21 [RCV001950122] | Chr8:67159079 [GRCh38] Chr8:68071314 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.865A>G (p.Arg289Gly) | single nucleotide variant | Joubert syndrome 21 [RCV001863872]|not provided [RCV004693807] | Chr8:67095674 [GRCh38] Chr8:68007909 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.2789G>A (p.Arg930Gln) | single nucleotide variant | Joubert syndrome 21 [RCV001864049] | Chr8:67164469 [GRCh38] Chr8:68076704 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1124G>A (p.Arg375Lys) | single nucleotide variant | Joubert syndrome 21 [RCV001892066] | Chr8:67112002 [GRCh38] Chr8:68024237 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.870T>G (p.Phe290Leu) | single nucleotide variant | Joubert syndrome 21 [RCV001970331] | Chr8:67095679 [GRCh38] Chr8:68007914 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.2807G>A (p.Ser936Asn) | single nucleotide variant | Joubert syndrome 21 [RCV001914688] | Chr8:67164487 [GRCh38] Chr8:68076722 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1787_1790del (p.Lys596fs) | deletion | CSPP1-related disorder [RCV004731211]|Joubert syndrome 21 [RCV002007270] | Chr8:67132038..67132041 [GRCh38] Chr8:68044273..68044276 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.2056G>C (p.Val686Leu) | single nucleotide variant | Inborn genetic diseases [RCV002551033]|Joubert syndrome 21 [RCV001874439] | Chr8:67149863 [GRCh38] Chr8:68062098 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1574A>G (p.Tyr525Cys) | single nucleotide variant | Joubert syndrome 21 [RCV002003274] | Chr8:67118325 [GRCh38] Chr8:68030560 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.404G>A (p.Arg135His) | single nucleotide variant | Inborn genetic diseases [RCV003161174]|Joubert syndrome 21 [RCV002009365] | Chr8:67093562 [GRCh38] Chr8:68005797 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.2336G>A (p.Arg779Gln) | single nucleotide variant | Joubert syndrome 21 [RCV001965846] | Chr8:67158541 [GRCh38] Chr8:68070776 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.18T>A (p.Asp6Glu) | single nucleotide variant | Joubert syndrome 21 [RCV002006701] | Chr8:67074270 [GRCh38] Chr8:67986505 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.632G>A (p.Arg211Gln) | single nucleotide variant | Joubert syndrome 21 [RCV001911520] | Chr8:67095441 [GRCh38] Chr8:68007676 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.2533A>T (p.Thr845Ser) | single nucleotide variant | Joubert syndrome 21 [RCV002020715] | Chr8:67159132 [GRCh38] Chr8:68071367 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1187G>C (p.Arg396Pro) | single nucleotide variant | Joubert syndrome 21 [RCV002022427] | Chr8:67112065 [GRCh38] Chr8:68024300 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3478_3479del (p.Ser1160fs) | microsatellite | Joubert syndrome 21 [RCV001891970] | Chr8:67195387..67195388 [GRCh38] Chr8:68107622..68107623 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.697A>G (p.Lys233Glu) | single nucleotide variant | Joubert syndrome 21 [RCV002004608] | Chr8:67095506 [GRCh38] Chr8:68007741 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.3457C>T (p.Pro1153Ser) | single nucleotide variant | Inborn genetic diseases [RCV002548871]|Joubert syndrome 21 [RCV002041048] | Chr8:67193590 [GRCh38] Chr8:68105825 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.606A>G (p.Ala202=) | single nucleotide variant | Joubert syndrome 21 [RCV002005769] | Chr8:67095415 [GRCh38] Chr8:68007650 [GRCh37] Chr8:8q13.1 |
likely benign|uncertain significance |
NM_001382391.1(CSPP1):c.1209G>T (p.Arg403Ser) | single nucleotide variant | Joubert syndrome 21 [RCV002042221] | Chr8:67113826 [GRCh38] Chr8:68026061 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1619A>G (p.Tyr540Cys) | single nucleotide variant | Inborn genetic diseases [RCV002563582]|Joubert syndrome 21 [RCV002004768] | Chr8:67118743 [GRCh38] Chr8:68030978 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2425G>A (p.Ala809Thr) | single nucleotide variant | Joubert syndrome 21 [RCV002041117] | Chr8:67159024 [GRCh38] Chr8:68071259 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1937G>A (p.Gly646Asp) | single nucleotide variant | Joubert syndrome 21 [RCV002006411] | Chr8:67137565 [GRCh38] Chr8:68049800 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1188-10T>C | single nucleotide variant | Joubert syndrome 21 [RCV001927062] | Chr8:67113795 [GRCh38] Chr8:68026030 [GRCh37] Chr8:8q13.2 |
likely benign|uncertain significance |
NM_001382391.1(CSPP1):c.2129G>C (p.Gly710Ala) | single nucleotide variant | Joubert syndrome 21 [RCV001986508] | Chr8:67154024 [GRCh38] Chr8:68066259 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.-69C>T | single nucleotide variant | Joubert syndrome 21 [RCV002041902]|Joubert syndrome [RCV005415621] | Chr8:67064480 [GRCh38] Chr8:67976715 [GRCh37] Chr8:8q13.1 |
pathogenic|likely pathogenic |
NM_001382391.1(CSPP1):c.2161C>T (p.Arg721Trp) | single nucleotide variant | Joubert syndrome 21 [RCV001983250] | Chr8:67154056 [GRCh38] Chr8:68066291 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.653G>A (p.Arg218Gln) | single nucleotide variant | Joubert syndrome 21 [RCV002040408] | Chr8:67095462 [GRCh38] Chr8:68007697 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.1030G>T (p.Asp344Tyr) | single nucleotide variant | Joubert syndrome 21 [RCV001928235] | Chr8:67105912 [GRCh38] Chr8:68018147 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2174T>C (p.Phe725Ser) | single nucleotide variant | Joubert syndrome 21 [RCV002005075] | Chr8:67154069 [GRCh38] Chr8:68066304 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2525G>A (p.Gly842Glu) | single nucleotide variant | Joubert syndrome 21 [RCV002005979] | Chr8:67159124 [GRCh38] Chr8:68071359 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1842A>C (p.Glu614Asp) | single nucleotide variant | Joubert syndrome 21 [RCV001890107] | Chr8:67137470 [GRCh38] Chr8:68049705 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3236C>T (p.Thr1079Ile) | single nucleotide variant | Joubert syndrome 21 [RCV001872734] | Chr8:67190665 [GRCh38] Chr8:68102900 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.875A>G (p.Tyr292Cys) | single nucleotide variant | Joubert syndrome 21 [RCV002007683] | Chr8:67095684 [GRCh38] Chr8:68007919 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.1315G>A (p.Ala439Thr) | single nucleotide variant | Joubert syndrome 21 [RCV001987440] | Chr8:67115941 [GRCh38] Chr8:68028176 [GRCh37] Chr8:8q13.2 |
uncertain significance |
GRCh37/hg19 8q13.1-13.2(chr8:66045954-69807260)x1 | copy number loss | not provided [RCV001836560] | Chr8:66045954..69807260 [GRCh37] Chr8:8q13.1-13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.1505del (p.Pro502fs) | deletion | Joubert syndrome 21 [RCV001894408] | Chr8:67118255 [GRCh38] Chr8:68030490 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.2563G>C (p.Val855Leu) | single nucleotide variant | Joubert syndrome 21 [RCV001894899] | Chr8:67161835 [GRCh38] Chr8:68074070 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2624T>C (p.Ile875Thr) | single nucleotide variant | Inborn genetic diseases [RCV002555602]|Joubert syndrome 21 [RCV001893745] | Chr8:67161896 [GRCh38] Chr8:68074131 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1115T>C (p.Ile372Thr) | single nucleotide variant | Inborn genetic diseases [RCV002545489]|Joubert syndrome 21 [RCV002007012] | Chr8:67111993 [GRCh38] Chr8:68024228 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.683A>G (p.Asn228Ser) | single nucleotide variant | Joubert syndrome 21 [RCV001890522] | Chr8:67095492 [GRCh38] Chr8:68007727 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.2510G>A (p.Arg837Lys) | single nucleotide variant | Joubert syndrome 21 [RCV001892619] | Chr8:67159109 [GRCh38] Chr8:68071344 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1454G>T (p.Arg485Leu) | single nucleotide variant | Joubert syndrome 21 [RCV001947972] | Chr8:67116080 [GRCh38] Chr8:68028315 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3268C>T (p.Pro1090Ser) | single nucleotide variant | Joubert syndrome 21 [RCV001948643] | Chr8:67190697 [GRCh38] Chr8:68102932 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1997G>A (p.Arg666Lys) | single nucleotide variant | Joubert syndrome 21 [RCV001893167] | Chr8:67149804 [GRCh38] Chr8:68062039 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3221-9T>A | single nucleotide variant | Joubert syndrome 21 [RCV001985675] | Chr8:67190641 [GRCh38] Chr8:68102876 [GRCh37] Chr8:8q13.2 |
likely benign|uncertain significance |
GRCh37/hg19 8q12.3-13.2(chr8:65194424-68570319) | copy number loss | not specified [RCV002053768] | Chr8:65194424..68570319 [GRCh37] Chr8:8q12.3-13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.1433C>G (p.Pro478Arg) | single nucleotide variant | Joubert syndrome 21 [RCV002023007] | Chr8:67116059 [GRCh38] Chr8:68028294 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.280G>A (p.Asp94Asn) | single nucleotide variant | Joubert syndrome 21 [RCV001889683] | Chr8:67086087 [GRCh38] Chr8:67998322 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.2048A>C (p.Lys683Thr) | single nucleotide variant | Joubert syndrome 21 [RCV001986284] | Chr8:67149855 [GRCh38] Chr8:68062090 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3479G>C (p.Ser1160Thr) | single nucleotide variant | Joubert syndrome 21 [RCV001889896] | Chr8:67195391 [GRCh38] Chr8:68107626 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3518G>C (p.Gly1173Ala) | single nucleotide variant | Joubert syndrome 21 [RCV001965287] | Chr8:67195430 [GRCh38] Chr8:68107665 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.-102G>A | single nucleotide variant | Joubert syndrome 21 [RCV002043435] | Chr8:67064447 [GRCh38] Chr8:67976682 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.2641C>G (p.His881Asp) | single nucleotide variant | Joubert syndrome 21 [RCV001984577] | Chr8:67161913 [GRCh38] Chr8:68074148 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.259T>A (p.Leu87Ile) | single nucleotide variant | Joubert syndrome 21 [RCV001999698] | Chr8:67086066 [GRCh38] Chr8:67998301 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.3560G>A (p.Arg1187His) | single nucleotide variant | Joubert syndrome 21 [RCV001963687] | Chr8:67195472 [GRCh38] Chr8:68107707 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1691C>T (p.Pro564Leu) | single nucleotide variant | Joubert syndrome 21 [RCV001919040] | Chr8:67118815 [GRCh38] Chr8:68031050 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1424A>G (p.His475Arg) | single nucleotide variant | Joubert syndrome 21 [RCV001941189] | Chr8:67116050 [GRCh38] Chr8:68028285 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3415A>G (p.Asn1139Asp) | single nucleotide variant | Joubert syndrome 21 [RCV001943948] | Chr8:67193548 [GRCh38] Chr8:68105783 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2530G>A (p.Glu844Lys) | single nucleotide variant | Inborn genetic diseases [RCV002552824]|Joubert syndrome 21 [RCV001922038] | Chr8:67159129 [GRCh38] Chr8:68071364 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.-138C>A | single nucleotide variant | Joubert syndrome 21 [RCV001939117] | Chr8:67064411 [GRCh38] Chr8:67976646 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.2939T>G (p.Val980Gly) | single nucleotide variant | Joubert syndrome 21 [RCV002017620] | Chr8:67172526 [GRCh38] Chr8:68084761 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3109+4dup | duplication | Joubert syndrome 21 [RCV001960878] | Chr8:67175438..67175439 [GRCh38] Chr8:68087673..68087674 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3405_3406del (p.Arg1136fs) | deletion | Joubert syndrome 21 [RCV001992609] | Chr8:67193538..67193539 [GRCh38] Chr8:68105773..68105774 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.1703C>A (p.Thr568Lys) | single nucleotide variant | Joubert syndrome 21 [RCV001941171] | Chr8:67131956 [GRCh38] Chr8:68044191 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2643+4T>G | single nucleotide variant | Joubert syndrome 21 [RCV001941418] | Chr8:67161919 [GRCh38] Chr8:68074154 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1101A>G (p.Glu367=) | single nucleotide variant | Joubert syndrome 21 [RCV001926115] | Chr8:67111979 [GRCh38] Chr8:68024214 [GRCh37] Chr8:8q13.2 |
likely benign|uncertain significance |
NM_001382391.1(CSPP1):c.2435G>A (p.Arg812Lys) | single nucleotide variant | Joubert syndrome 21 [RCV001942850] | Chr8:67159034 [GRCh38] Chr8:68071269 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1550G>A (p.Arg517Gln) | single nucleotide variant | Joubert syndrome 21 [RCV001960386] | Chr8:67118301 [GRCh38] Chr8:68030536 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1022+1G>T | single nucleotide variant | Joubert syndrome 21 [RCV002009554] | Chr8:67103136 [GRCh38] Chr8:68015371 [GRCh37] Chr8:8q13.2 |
likely pathogenic |
NM_001382391.1(CSPP1):c.188G>C (p.Arg63Thr) | single nucleotide variant | Joubert syndrome 21 [RCV002033282] | Chr8:67076570 [GRCh38] Chr8:67988805 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.2206C>A (p.Gln736Lys) | single nucleotide variant | Joubert syndrome 21 [RCV001888727] | Chr8:67154101 [GRCh38] Chr8:68066336 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2162G>A (p.Arg721Gln) | single nucleotide variant | Joubert syndrome 21 [RCV001888291] | Chr8:67154057 [GRCh38] Chr8:68066292 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.199+13A>G | single nucleotide variant | Joubert syndrome 21 [RCV001943398] | Chr8:67076594 [GRCh38] Chr8:67988829 [GRCh37] Chr8:8q13.1 |
likely benign|uncertain significance |
NC_000008.10:g.(?_68044166)_(68044335_?)del | deletion | Joubert syndrome 21 [RCV001958791] | Chr8:68044166..68044335 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.1194A>T (p.Lys398Asn) | single nucleotide variant | Inborn genetic diseases [RCV004043560]|Joubert syndrome 21 [RCV001938170] | Chr8:67113811 [GRCh38] Chr8:68026046 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.729C>G (p.Asn243Lys) | single nucleotide variant | Joubert syndrome 21 [RCV001888313] | Chr8:67095538 [GRCh38] Chr8:68007773 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.3289G>T (p.Ala1097Ser) | single nucleotide variant | Joubert syndrome 21 [RCV001904931] | Chr8:67190718 [GRCh38] Chr8:68102953 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.263_267del (p.Lys88fs) | deletion | Joubert syndrome 21 [RCV002037925] | Chr8:67086068..67086072 [GRCh38] Chr8:67998303..67998307 [GRCh37] Chr8:8q13.1 |
pathogenic |
NM_001382391.1(CSPP1):c.3139G>C (p.Val1047Leu) | single nucleotide variant | Inborn genetic diseases [RCV005320975]|Joubert syndrome 21 [RCV001938335] | Chr8:67177709 [GRCh38] Chr8:68089944 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1313T>C (p.Val438Ala) | single nucleotide variant | Joubert syndrome 21 [RCV001973578] | Chr8:67115939 [GRCh38] Chr8:68028174 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2267A>G (p.Glu756Gly) | single nucleotide variant | Inborn genetic diseases [RCV004976088]|Joubert syndrome 21 [RCV002033716] | Chr8:67158472 [GRCh38] Chr8:68070707 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1639G>C (p.Val547Leu) | single nucleotide variant | Joubert syndrome 21 [RCV002035569] | Chr8:67118763 [GRCh38] Chr8:68030998 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.502A>C (p.Lys168Gln) | single nucleotide variant | Joubert syndrome 21 [RCV002038774] | Chr8:67095311 [GRCh38] Chr8:68007546 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.1648G>A (p.Ala550Thr) | single nucleotide variant | Joubert syndrome 21 [RCV002030474] | Chr8:67118772 [GRCh38] Chr8:68031007 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1234C>T (p.Pro412Ser) | single nucleotide variant | Joubert syndrome 21 [RCV001934759] | Chr8:67113851 [GRCh38] Chr8:68026086 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2741C>T (p.Ser914Leu) | single nucleotide variant | Joubert syndrome 21 [RCV001903021] | Chr8:67164421 [GRCh38] Chr8:68076656 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2761C>T (p.Arg921Cys) | single nucleotide variant | Joubert syndrome 21 [RCV001976365] | Chr8:67164441 [GRCh38] Chr8:68076676 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.-116C>T | single nucleotide variant | Inborn genetic diseases [RCV004045970]|Joubert syndrome 21 [RCV002013038] | Chr8:67064433 [GRCh38] Chr8:67976668 [GRCh37] Chr8:8q13.1 |
likely benign|uncertain significance |
NM_001382391.1(CSPP1):c.2398C>G (p.Leu800Val) | single nucleotide variant | Joubert syndrome 21 [RCV002051371] | Chr8:67158997 [GRCh38] Chr8:68071232 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3163G>C (p.Asp1055His) | single nucleotide variant | Inborn genetic diseases [RCV002552256]|Joubert syndrome 21 [RCV001880975] | Chr8:67179869 [GRCh38] Chr8:68092104 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NC_000008.10:g.(?_67998222)_(67998365_?)del | deletion | Joubert syndrome 21 [RCV001956359] | Chr8:67998222..67998365 [GRCh37] Chr8:8q13.1 |
pathogenic |
NM_001382391.1(CSPP1):c.88A>G (p.Met30Val) | single nucleotide variant | Joubert syndrome 21 [RCV001996191]|Optic atrophy [RCV004816897]|not provided [RCV003434382] | Chr8:67074340 [GRCh38] Chr8:67986575 [GRCh37] Chr8:8q13.1 |
likely benign|uncertain significance |
NM_001382391.1(CSPP1):c.572G>A (p.Gly191Asp) | single nucleotide variant | Joubert syndrome 21 [RCV002046702] | Chr8:67095381 [GRCh38] Chr8:68007616 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.908T>C (p.Val303Ala) | single nucleotide variant | Joubert syndrome 21 [RCV002015581] | Chr8:67095717 [GRCh38] Chr8:68007952 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.3330+1G>C | single nucleotide variant | Joubert syndrome 21 [RCV001995648]|not provided [RCV003235646] | Chr8:67190760 [GRCh38] Chr8:68102995 [GRCh37] Chr8:8q13.2 |
likely pathogenic |
NM_001382391.1(CSPP1):c.422A>G (p.Gln141Arg) | single nucleotide variant | Joubert syndrome 21 [RCV001958212] | Chr8:67093580 [GRCh38] Chr8:68005815 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.508C>G (p.Pro170Ala) | single nucleotide variant | Joubert syndrome 21 [RCV001899254] | Chr8:67095317 [GRCh38] Chr8:68007552 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.727A>C (p.Asn243His) | single nucleotide variant | Joubert syndrome 21 [RCV001877633] | Chr8:67095536 [GRCh38] Chr8:68007771 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.3364C>T (p.Leu1122Phe) | single nucleotide variant | Joubert syndrome 21 [RCV001992618] | Chr8:67193497 [GRCh38] Chr8:68105732 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NC_000008.10:g.(?_68018120)_(68071392_?)dup | duplication | Joubert syndrome 21 [RCV002032157] | Chr8:68018120..68071392 [GRCh37] Chr8:8q13.2 |
likely pathogenic |
NM_001382391.1(CSPP1):c.2864T>C (p.Met955Thr) | single nucleotide variant | Inborn genetic diseases [RCV004040438]|Joubert syndrome 21 [RCV001867453]|not provided [RCV004774487] | Chr8:67172451 [GRCh38] Chr8:68084686 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.-140C>G | single nucleotide variant | Joubert syndrome 21 [RCV001879272] | Chr8:67064409 [GRCh38] Chr8:67976644 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.3430C>T (p.Arg1144Ter) | single nucleotide variant | Joubert syndrome 21 [RCV001952197] | Chr8:67193563 [GRCh38] Chr8:68105798 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NC_000008.10:g.(?_68024187)_(68107828_?)dup | duplication | Joubert syndrome 21 [RCV001992944] | Chr8:68024187..68107828 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2732T>A (p.Met911Lys) | single nucleotide variant | Joubert syndrome 21 [RCV001935924] | Chr8:67164412 [GRCh38] Chr8:68076647 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1342C>T (p.Pro448Ser) | single nucleotide variant | Joubert syndrome 21 [RCV001973237] | Chr8:67115968 [GRCh38] Chr8:68028203 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.896G>A (p.Arg299Lys) | single nucleotide variant | Joubert syndrome 21 [RCV001867663] | Chr8:67095705 [GRCh38] Chr8:68007940 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.3368_3371del (p.Leu1122_Ser1123insTer) | microsatellite | Joubert syndrome 21 [RCV001950917] | Chr8:67193496..67193499 [GRCh38] Chr8:68105731..68105734 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.3298C>T (p.Arg1100Cys) | single nucleotide variant | Inborn genetic diseases [RCV003164011]|Joubert syndrome 21 [RCV002029990] | Chr8:67190727 [GRCh38] Chr8:68102962 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3619C>T (p.Gln1207Ter) | single nucleotide variant | Joubert syndrome 21 [RCV001866536] | Chr8:67195531 [GRCh38] Chr8:68107766 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.-96C>G | single nucleotide variant | Joubert syndrome 21 [RCV001881239] | Chr8:67064453 [GRCh38] Chr8:67976688 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.3487G>A (p.Val1163Ile) | single nucleotide variant | Joubert syndrome 21 [RCV001934311] | Chr8:67195399 [GRCh38] Chr8:68107634 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.-142C>A | single nucleotide variant | Joubert syndrome 21 [RCV001977088] | Chr8:67064407 [GRCh38] Chr8:67976642 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.1984A>G (p.Asn662Asp) | single nucleotide variant | Inborn genetic diseases [RCV005320899]|Joubert syndrome 21 [RCV001866612] | Chr8:67149791 [GRCh38] Chr8:68062026 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3428T>C (p.Met1143Thr) | single nucleotide variant | Joubert syndrome 21 [RCV001995913] | Chr8:67193561 [GRCh38] Chr8:68105796 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2557_2559del (p.Pro853del) | deletion | Joubert syndrome 21 [RCV002027675] | Chr8:67161827..67161829 [GRCh38] Chr8:68074062..68074064 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3340C>T (p.Arg1114Cys) | single nucleotide variant | Joubert syndrome 21 [RCV001931913] | Chr8:67193473 [GRCh38] Chr8:68105708 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.187A>G (p.Arg63Gly) | single nucleotide variant | Joubert syndrome 21 [RCV002030127] | Chr8:67076569 [GRCh38] Chr8:67988804 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.2391+3A>T | single nucleotide variant | Joubert syndrome 21 [RCV001919839] | Chr8:67158599 [GRCh38] Chr8:68070834 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1827+3A>G | single nucleotide variant | Joubert syndrome 21 [RCV002027787] | Chr8:67132083 [GRCh38] Chr8:68044318 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2968G>A (p.Asp990Asn) | single nucleotide variant | Joubert syndrome 21 [RCV001974850] | Chr8:67172555 [GRCh38] Chr8:68084790 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1591A>G (p.Asn531Asp) | single nucleotide variant | Joubert syndrome 21 [RCV001972261] | Chr8:67118342 [GRCh38] Chr8:68030577 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2986G>A (p.Asp996Asn) | single nucleotide variant | Joubert syndrome 21 [RCV001897346] | Chr8:67175313 [GRCh38] Chr8:68087548 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.-68G>A | single nucleotide variant | Joubert syndrome 21 [RCV001973629] | Chr8:67064481 [GRCh38] Chr8:67976716 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.1432C>A (p.Pro478Thr) | single nucleotide variant | Joubert syndrome 21 [RCV001957411] | Chr8:67116058 [GRCh38] Chr8:68028293 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3124A>G (p.Ile1042Val) | single nucleotide variant | Joubert syndrome 21 [RCV001933369]|not provided [RCV003317548] | Chr8:67177694 [GRCh38] Chr8:68089929 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.659T>C (p.Leu220Pro) | single nucleotide variant | Joubert syndrome 21 [RCV001934711] | Chr8:67095468 [GRCh38] Chr8:68007703 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.1100A>G (p.Glu367Gly) | single nucleotide variant | Joubert syndrome 21 [RCV001921107] | Chr8:67111978 [GRCh38] Chr8:68024213 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.-146T>A | single nucleotide variant | Joubert syndrome 21 [RCV001974968] | Chr8:67064403 [GRCh38] Chr8:67976638 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.1972A>G (p.Ile658Val) | single nucleotide variant | Joubert syndrome 21 [RCV001897711] | Chr8:67137600 [GRCh38] Chr8:68049835 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.72A>C (p.Glu24Asp) | single nucleotide variant | Joubert syndrome 21 [RCV001867109] | Chr8:67074324 [GRCh38] Chr8:67986559 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.3382T>C (p.Ser1128Pro) | single nucleotide variant | Joubert syndrome 21 [RCV001900341] | Chr8:67193515 [GRCh38] Chr8:68105750 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.244C>T (p.Arg82Trp) | single nucleotide variant | Joubert syndrome 21 [RCV001925583] | Chr8:67086051 [GRCh38] Chr8:67998286 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.2194C>T (p.Leu732Phe) | single nucleotide variant | Joubert syndrome 21 [RCV001979447] | Chr8:67154089 [GRCh38] Chr8:68066324 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2285_2286del (p.Leu762fs) | deletion | Joubert syndrome 21 [RCV001994713] | Chr8:67158490..67158491 [GRCh38] Chr8:68070725..68070726 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.1873G>A (p.Glu625Lys) | single nucleotide variant | Joubert syndrome 21 [RCV001904625] | Chr8:67137501 [GRCh38] Chr8:68049736 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.303+5T>C | single nucleotide variant | Joubert syndrome 21 [RCV001878980] | Chr8:67086115 [GRCh38] Chr8:67998350 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.1606A>C (p.Ser536Arg) | single nucleotide variant | Joubert syndrome 21 [RCV002020073] | Chr8:67118357 [GRCh38] Chr8:68030592 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1472C>A (p.Ala491Asp) | single nucleotide variant | Joubert syndrome 21 [RCV001898146] | Chr8:67116098 [GRCh38] Chr8:68028333 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2276G>A (p.Arg759Gln) | single nucleotide variant | Joubert syndrome 21 [RCV001957817] | Chr8:67158481 [GRCh38] Chr8:68070716 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1400C>A (p.Ser467Tyr) | single nucleotide variant | Joubert syndrome 21 [RCV002010729] | Chr8:67116026 [GRCh38] Chr8:68028261 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.767C>G (p.Pro256Arg) | single nucleotide variant | Joubert syndrome 21 [RCV001954736] | Chr8:67095576 [GRCh38] Chr8:68007811 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.1399T>C (p.Ser467Pro) | single nucleotide variant | Joubert syndrome 21 [RCV002049787] | Chr8:67116025 [GRCh38] Chr8:68028260 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2829-3T>C | single nucleotide variant | Joubert syndrome 21 [RCV001905960] | Chr8:67172413 [GRCh38] Chr8:68084648 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.-66G>A | single nucleotide variant | Joubert syndrome 21 [RCV001866504] | Chr8:67064483 [GRCh38] Chr8:67976718 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.2776C>T (p.Arg926Cys) | single nucleotide variant | Joubert syndrome 21 [RCV002032106] | Chr8:67164456 [GRCh38] Chr8:68076691 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1708G>A (p.Gly570Arg) | single nucleotide variant | Joubert syndrome 21 [RCV001995081]|Retinal dystrophy [RCV004816853] | Chr8:67131961 [GRCh38] Chr8:68044196 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2099A>G (p.Asn700Ser) | single nucleotide variant | Joubert syndrome 21 [RCV002028823] | Chr8:67149906 [GRCh38] Chr8:68062141 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3259G>A (p.Val1087Ile) | single nucleotide variant | Joubert syndrome 21 [RCV002046060] | Chr8:67190688 [GRCh38] Chr8:68102923 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2967A>G (p.Arg989=) | single nucleotide variant | Joubert syndrome 21 [RCV001866705] | Chr8:67172554 [GRCh38] Chr8:68084789 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2777G>A (p.Arg926His) | single nucleotide variant | Joubert syndrome 21 [RCV001972116] | Chr8:67164457 [GRCh38] Chr8:68076692 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2240A>T (p.Gln747Leu) | single nucleotide variant | Joubert syndrome 21 [RCV001958176] | Chr8:67154135 [GRCh38] Chr8:68066370 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3328A>T (p.Ile1110Phe) | single nucleotide variant | Joubert syndrome 21 [RCV001991847] | Chr8:67190757 [GRCh38] Chr8:68102992 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2888C>T (p.Pro963Leu) | single nucleotide variant | Joubert syndrome 21 [RCV002019742] | Chr8:67172475 [GRCh38] Chr8:68084710 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2162G>T (p.Arg721Leu) | single nucleotide variant | Joubert syndrome 21 [RCV001979242] | Chr8:67154057 [GRCh38] Chr8:68066292 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2141C>T (p.Thr714Ile) | single nucleotide variant | Joubert syndrome 21 [RCV001906157] | Chr8:67154036 [GRCh38] Chr8:68066271 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2633C>T (p.Ser878Phe) | single nucleotide variant | Joubert syndrome 21 [RCV001902603] | Chr8:67161905 [GRCh38] Chr8:68074140 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.554C>G (p.Ser185Cys) | single nucleotide variant | Joubert syndrome 21 [RCV001926170] | Chr8:67095363 [GRCh38] Chr8:68007598 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.-104A>T | single nucleotide variant | Joubert syndrome 21 [RCV002033982] | Chr8:67064445 [GRCh38] Chr8:67976680 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.1661G>A (p.Ser554Asn) | single nucleotide variant | Joubert syndrome 21 [RCV001919226] | Chr8:67118785 [GRCh38] Chr8:68031020 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1616A>G (p.Tyr539Cys) | single nucleotide variant | Joubert syndrome 21 [RCV001898859] | Chr8:67118367 [GRCh38] Chr8:68030602 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.275G>C (p.Arg92Pro) | single nucleotide variant | Joubert syndrome 21 [RCV001939088] | Chr8:67086082 [GRCh38] Chr8:67998317 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.1643A>G (p.Gln548Arg) | single nucleotide variant | Joubert syndrome 21 [RCV001997214] | Chr8:67118767 [GRCh38] Chr8:68031002 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1198T>G (p.Leu400Val) | single nucleotide variant | Joubert syndrome 21 [RCV001997653] | Chr8:67113815 [GRCh38] Chr8:68026050 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1497-2A>C | single nucleotide variant | Joubert syndrome 21 [RCV001998063] | Chr8:67118246 [GRCh38] Chr8:68030481 [GRCh37] Chr8:8q13.2 |
likely pathogenic |
NM_001382391.1(CSPP1):c.1832G>A (p.Arg611Gln) | single nucleotide variant | Joubert syndrome 21 [RCV002018313] | Chr8:67137460 [GRCh38] Chr8:68049695 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1897G>C (p.Ala633Pro) | single nucleotide variant | Joubert syndrome 21 [RCV001925000] | Chr8:67137525 [GRCh38] Chr8:68049760 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3455A>G (p.Lys1152Arg) | single nucleotide variant | Joubert syndrome 21 [RCV001960761] | Chr8:67193588 [GRCh38] Chr8:68105823 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1728T>G (p.Ile576Met) | single nucleotide variant | Joubert syndrome 21 [RCV001904930] | Chr8:67131981 [GRCh38] Chr8:68044216 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.731T>G (p.Leu244Arg) | single nucleotide variant | Joubert syndrome 21 [RCV001906175] | Chr8:67095540 [GRCh38] Chr8:68007775 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.2887C>G (p.Pro963Ala) | single nucleotide variant | Joubert syndrome 21 [RCV001998367] | Chr8:67172474 [GRCh38] Chr8:68084709 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2710+6G>A | single nucleotide variant | CSPP1-related disorder [RCV003913444]|Joubert syndrome 21 [RCV001925833] | Chr8:67163804 [GRCh38] Chr8:68076039 [GRCh37] Chr8:8q13.2 |
likely benign|uncertain significance |
NM_001382391.1(CSPP1):c.1843G>C (p.Glu615Gln) | single nucleotide variant | Joubert syndrome 21 [RCV001899808] | Chr8:67137471 [GRCh38] Chr8:68049706 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.-108C>T | single nucleotide variant | Joubert syndrome 21 [RCV001934079] | Chr8:67064441 [GRCh38] Chr8:67976676 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.2686A>G (p.Arg896Gly) | single nucleotide variant | Joubert syndrome 21 [RCV001937259] | Chr8:67163774 [GRCh38] Chr8:68076009 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.923G>A (p.Arg308Lys) | single nucleotide variant | Joubert syndrome 21 [RCV001935128] | Chr8:67095732 [GRCh38] Chr8:68007967 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.419_422del (p.Asn140fs) | deletion | Joubert syndrome 21 [RCV001994801] | Chr8:67093575..67093578 [GRCh38] Chr8:68005810..68005813 [GRCh37] Chr8:8q13.1 |
pathogenic |
NM_001382391.1(CSPP1):c.2644-14T>G | single nucleotide variant | Joubert syndrome 21 [RCV001996062] | Chr8:67163718 [GRCh38] Chr8:68075953 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.253C>T (p.His85Tyr) | single nucleotide variant | Joubert syndrome 21 [RCV001877496] | Chr8:67086060 [GRCh38] Chr8:67998295 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.2168A>G (p.Asn723Ser) | single nucleotide variant | Joubert syndrome 21 [RCV001977706] | Chr8:67154063 [GRCh38] Chr8:68066298 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.881G>C (p.Ser294Thr) | single nucleotide variant | Joubert syndrome 21 [RCV001952404] | Chr8:67095690 [GRCh38] Chr8:68007925 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NC_000008.10:g.(?_68024187)_(68044335_?)dup | duplication | Joubert syndrome 21 [RCV002032167] | Chr8:68024187..68044335 [GRCh37] Chr8:8q13.2 |
likely pathogenic |
NM_001382391.1(CSPP1):c.1861C>T (p.Arg621Cys) | single nucleotide variant | Joubert syndrome 21 [RCV001866465] | Chr8:67137489 [GRCh38] Chr8:68049724 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2036C>G (p.Thr679Arg) | single nucleotide variant | Joubert syndrome 21 [RCV002015504] | Chr8:67149843 [GRCh38] Chr8:68062078 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.929A>G (p.His310Arg) | single nucleotide variant | Inborn genetic diseases [RCV003289150]|Joubert syndrome 21 [RCV001878733] | Chr8:67103042 [GRCh38] Chr8:68015277 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.46T>G (p.Leu16Val) | single nucleotide variant | Inborn genetic diseases [RCV005320984]|Joubert syndrome 21 [RCV001957097] | Chr8:67074298 [GRCh38] Chr8:67986533 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.2658C>G (p.Ser886=) | single nucleotide variant | Joubert syndrome 21 [RCV002085211] | Chr8:67163746 [GRCh38] Chr8:68075981 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.876T>C (p.Tyr292=) | single nucleotide variant | Joubert syndrome 21 [RCV002165100] | Chr8:67095685 [GRCh38] Chr8:68007920 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.2392-17_2392-12del | deletion | Joubert syndrome 21 [RCV002186598] | Chr8:67158971..67158976 [GRCh38] Chr8:68071206..68071211 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1618+20A>C | single nucleotide variant | Joubert syndrome 21 [RCV002125775] | Chr8:67118389 [GRCh38] Chr8:68030624 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2322A>G (p.Ala774=) | single nucleotide variant | Joubert syndrome 21 [RCV002208083] | Chr8:67158527 [GRCh38] Chr8:68070762 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1065C>T (p.Thr355=) | single nucleotide variant | Joubert syndrome 21 [RCV002168631] | Chr8:67105947 [GRCh38] Chr8:68018182 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1618+12A>G | single nucleotide variant | Joubert syndrome 21 [RCV002169848] | Chr8:67118381 [GRCh38] Chr8:68030616 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1123A>C (p.Arg375=) | single nucleotide variant | Joubert syndrome 21 [RCV002071381] | Chr8:67112001 [GRCh38] Chr8:68024236 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1697+19G>T | single nucleotide variant | Joubert syndrome 21 [RCV002126498] | Chr8:67118840 [GRCh38] Chr8:68031075 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.-10-4A>T | single nucleotide variant | Joubert syndrome 21 [RCV002088879] | Chr8:67074239 [GRCh38] Chr8:67986474 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.-106C>T | single nucleotide variant | Joubert syndrome 21 [RCV002092288] | Chr8:67064443 [GRCh38] Chr8:67976678 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.3221-14C>T | single nucleotide variant | Joubert syndrome 21 [RCV002088813] | Chr8:67190636 [GRCh38] Chr8:68102871 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.-103C>T | single nucleotide variant | Joubert syndrome 21 [RCV002147344] | Chr8:67064446 [GRCh38] Chr8:67976681 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.3157-16A>G | single nucleotide variant | Joubert syndrome 21 [RCV002168654] | Chr8:67179847 [GRCh38] Chr8:68092082 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.3330+11G>A | single nucleotide variant | Joubert syndrome 21 [RCV002191271] | Chr8:67190770 [GRCh38] Chr8:68103005 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2242-18_2242-15del | deletion | Joubert syndrome 21 [RCV002190976] | Chr8:67158426..67158429 [GRCh38] Chr8:68070661..68070664 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2128+25_2128+36del | deletion | Joubert syndrome 21 [RCV002109001] | Chr8:67149948..67149959 [GRCh38] Chr8:68062183..68062194 [GRCh37] Chr8:8q13.2 |
benign |
NM_001382391.1(CSPP1):c.2128+23_2128+36del | deletion | Joubert syndrome 21 [RCV002107948] | Chr8:67149948..67149961 [GRCh38] Chr8:68062183..68062196 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2829-4A>G | single nucleotide variant | Joubert syndrome 21 [RCV002205202] | Chr8:67172412 [GRCh38] Chr8:68084647 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2828+16C>A | single nucleotide variant | Joubert syndrome 21 [RCV002147212] | Chr8:67164524 [GRCh38] Chr8:68076759 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2828+20T>A | single nucleotide variant | Joubert syndrome 21 [RCV002188769] | Chr8:67164528 [GRCh38] Chr8:68076763 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.844G>A (p.Val282Ile) | single nucleotide variant | not provided [RCV002224596] | Chr8:67095653 [GRCh38] Chr8:68007888 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.1618+16G>A | single nucleotide variant | Joubert syndrome 21 [RCV002127632] | Chr8:67118385 [GRCh38] Chr8:68030620 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.3645T>G (p.Thr1215=) | single nucleotide variant | Joubert syndrome 21 [RCV002107855] | Chr8:67195557 [GRCh38] Chr8:68107792 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2128+16T>G | single nucleotide variant | Joubert syndrome 21 [RCV002107130] | Chr8:67149951 [GRCh38] Chr8:68062186 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.3576A>G (p.Glu1192=) | single nucleotide variant | Joubert syndrome 21 [RCV002117199] | Chr8:67195488 [GRCh38] Chr8:68107723 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.789T>C (p.Phe263=) | single nucleotide variant | Joubert syndrome 21 [RCV002093301] | Chr8:67095598 [GRCh38] Chr8:68007833 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.2436A>G (p.Arg812=) | single nucleotide variant | Joubert syndrome 21 [RCV002109191] | Chr8:67159035 [GRCh38] Chr8:68071270 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.200-15T>C | single nucleotide variant | Joubert syndrome 21 [RCV002117126] | Chr8:67085992 [GRCh38] Chr8:67998227 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.3330+18C>A | single nucleotide variant | Joubert syndrome 21 [RCV002095290] | Chr8:67190777 [GRCh38] Chr8:68103012 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2128+10C>A | single nucleotide variant | Joubert syndrome 21 [RCV002174991] | Chr8:67149945 [GRCh38] Chr8:68062180 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2392-12T>G | single nucleotide variant | Joubert syndrome 21 [RCV002089715] | Chr8:67158979 [GRCh38] Chr8:68071214 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.3288T>C (p.Ser1096=) | single nucleotide variant | Joubert syndrome 21 [RCV002211830] | Chr8:67190717 [GRCh38] Chr8:68102952 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.3157-7C>T | single nucleotide variant | Joubert syndrome 21 [RCV002149871] | Chr8:67179856 [GRCh38] Chr8:68092091 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.3588T>C (p.Arg1196=) | single nucleotide variant | Joubert syndrome 21 [RCV002079302] | Chr8:67195500 [GRCh38] Chr8:68107735 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1288-12dup | duplication | Joubert syndrome 21 [RCV002173453] | Chr8:67115894..67115895 [GRCh38] Chr8:68028129..68028130 [GRCh37] Chr8:8q13.2 |
benign |
NM_001382391.1(CSPP1):c.2346G>A (p.Gln782=) | single nucleotide variant | Joubert syndrome 21 [RCV002151719] | Chr8:67158551 [GRCh38] Chr8:68070786 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.3110-7A>G | single nucleotide variant | Joubert syndrome 21 [RCV002174058] | Chr8:67177673 [GRCh38] Chr8:68089908 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.484-4A>G | single nucleotide variant | Joubert syndrome 21 [RCV002113993]|Retinal dystrophy [RCV004816965] | Chr8:67095289 [GRCh38] Chr8:68007524 [GRCh37] Chr8:8q13.1 |
likely benign|uncertain significance |
NM_001382391.1(CSPP1):c.1245+14del | deletion | Joubert syndrome 21 [RCV002094746] | Chr8:67113875 [GRCh38] Chr8:68026110 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1959A>G (p.Ala653=) | single nucleotide variant | Joubert syndrome 21 [RCV002135070] | Chr8:67137587 [GRCh38] Chr8:68049822 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1782T>C (p.Pro594=) | single nucleotide variant | Joubert syndrome 21 [RCV002115078] | Chr8:67132035 [GRCh38] Chr8:68044270 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.-91G>A | single nucleotide variant | Joubert syndrome 21 [RCV002147345] | Chr8:67064458 [GRCh38] Chr8:67976693 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.66G>A (p.Glu22=) | single nucleotide variant | Joubert syndrome 21 [RCV002094704] | Chr8:67074318 [GRCh38] Chr8:67986553 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.33G>A (p.Glu11=) | single nucleotide variant | Joubert syndrome 21 [RCV002193221] | Chr8:67074285 [GRCh38] Chr8:67986520 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.2241+20_2241+25del | deletion | Joubert syndrome 21 [RCV002174512] | Chr8:67154153..67154158 [GRCh38] Chr8:68066388..68066393 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.867G>A (p.Arg289=) | single nucleotide variant | Joubert syndrome 21 [RCV002075741] | Chr8:67095676 [GRCh38] Chr8:68007911 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.1698-15G>A | single nucleotide variant | Joubert syndrome 21 [RCV002103763] | Chr8:67131936 [GRCh38] Chr8:68044171 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.3228C>T (p.Tyr1076=) | single nucleotide variant | Joubert syndrome 21 [RCV002220171] | Chr8:67190657 [GRCh38] Chr8:68102892 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2343G>A (p.Gln781=) | single nucleotide variant | Joubert syndrome 21 [RCV002102128] | Chr8:67158548 [GRCh38] Chr8:68070783 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.303+7A>G | single nucleotide variant | Joubert syndrome 21 [RCV002158344] | Chr8:67086117 [GRCh38] Chr8:67998352 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.2133T>C (p.His711=) | single nucleotide variant | Joubert syndrome 21 [RCV002098526] | Chr8:67154028 [GRCh38] Chr8:68066263 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1245+22_1245+36del | deletion | Joubert syndrome 21 [RCV002158782] | Chr8:67113878..67113892 [GRCh38] Chr8:68026113..68026127 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2711-15A>G | single nucleotide variant | Joubert syndrome 21 [RCV002178328] | Chr8:67164376 [GRCh38] Chr8:68076611 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.3435A>G (p.Arg1145=) | single nucleotide variant | Joubert syndrome 21 [RCV002176554] | Chr8:67193568 [GRCh38] Chr8:68105803 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2392-14T>C | single nucleotide variant | Joubert syndrome 21 [RCV002159057] | Chr8:67158977 [GRCh38] Chr8:68071212 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1320A>G (p.Pro440=) | single nucleotide variant | Joubert syndrome 21 [RCV002144289] | Chr8:67115946 [GRCh38] Chr8:68028181 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2754A>G (p.Lys918=) | single nucleotide variant | Joubert syndrome 21 [RCV002099541] | Chr8:67164434 [GRCh38] Chr8:68076669 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1245+15dup | duplication | Joubert syndrome 21 [RCV002216443] | Chr8:67113876..67113877 [GRCh38] Chr8:68026111..68026112 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1776G>A (p.Pro592=) | single nucleotide variant | Joubert syndrome 21 [RCV002216463]|not provided [RCV003458122] | Chr8:67132029 [GRCh38] Chr8:68044264 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2481T>C (p.Tyr827=) | single nucleotide variant | Joubert syndrome 21 [RCV002097984] | Chr8:67159080 [GRCh38] Chr8:68071315 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1524A>G (p.Leu508=) | single nucleotide variant | Joubert syndrome 21 [RCV002119573] | Chr8:67118275 [GRCh38] Chr8:68030510 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2862T>C (p.Asp954=) | single nucleotide variant | Joubert syndrome 21 [RCV002182864] | Chr8:67172449 [GRCh38] Chr8:68084684 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2644-12A>G | single nucleotide variant | Joubert syndrome 21 [RCV002081575] | Chr8:67163720 [GRCh38] Chr8:68075955 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.200-13_200-11del | microsatellite | Joubert syndrome 21 [RCV002216880] | Chr8:67085991..67085993 [GRCh38] Chr8:67998226..67998228 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.2685C>G (p.Ala895=) | single nucleotide variant | Joubert syndrome 21 [RCV002216949] | Chr8:67163773 [GRCh38] Chr8:68076008 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.3672A>C (p.Ala1224=) | single nucleotide variant | Joubert syndrome 21 [RCV002100278] | Chr8:67195584 [GRCh38] Chr8:68107819 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2763T>C (p.Arg921=) | single nucleotide variant | Joubert syndrome 21 [RCV002118294] | Chr8:67164443 [GRCh38] Chr8:68076678 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1188-16del | deletion | Joubert syndrome 21 [RCV002198645] | Chr8:67113789 [GRCh38] Chr8:68026024 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1806C>T (p.Tyr602=) | single nucleotide variant | Joubert syndrome 21 [RCV002198741] | Chr8:67132059 [GRCh38] Chr8:68044294 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2128+7_2128+25del | deletion | Joubert syndrome 21 [RCV002162550] | Chr8:67149937..67149955 [GRCh38] Chr8:68062172..68062190 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1683A>G (p.Leu561=) | single nucleotide variant | Joubert syndrome 21 [RCV002082573] | Chr8:67118807 [GRCh38] Chr8:68031042 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2128+17T>G | single nucleotide variant | Joubert syndrome 21 [RCV002144154] | Chr8:67149952 [GRCh38] Chr8:68062187 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.923+25_923+29del | microsatellite | Joubert syndrome 21 [RCV002199606] | Chr8:67095749..67095753 [GRCh38] Chr8:68007984..68007988 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.1094-11C>T | single nucleotide variant | Joubert syndrome 21 [RCV002142603] | Chr8:67111961 [GRCh38] Chr8:68024196 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1093+17del | deletion | Joubert syndrome 21 [RCV002180831] | Chr8:67105991 [GRCh38] Chr8:68018226 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2538+10A>G | single nucleotide variant | Joubert syndrome 21 [RCV002136115] | Chr8:67159147 [GRCh38] Chr8:68071382 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1827+10C>A | single nucleotide variant | Joubert syndrome 21 [RCV002200503] | Chr8:67132090 [GRCh38] Chr8:68044325 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1619-8T>C | single nucleotide variant | Joubert syndrome 21 [RCV002176480] | Chr8:67118735 [GRCh38] Chr8:68030970 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2538+11G>A | single nucleotide variant | Joubert syndrome 21 [RCV002180652] | Chr8:67159148 [GRCh38] Chr8:68071383 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.-45_-42del | deletion | Joubert syndrome 21 [RCV002137228] | Chr8:67064502..67064505 [GRCh38] Chr8:67976737..67976740 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.-94A>G | single nucleotide variant | Joubert syndrome 21 [RCV002100030] | Chr8:67064455 [GRCh38] Chr8:67976690 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.126A>G (p.Glu42=) | single nucleotide variant | Joubert syndrome 21 [RCV002157858] | Chr8:67076508 [GRCh38] Chr8:67988743 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.3109+20G>A | single nucleotide variant | Joubert syndrome 21 [RCV002179625] | Chr8:67175456 [GRCh38] Chr8:68087691 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.3528A>C (p.Gly1176=) | single nucleotide variant | Joubert syndrome 21 [RCV002098901] | Chr8:67195440 [GRCh38] Chr8:68107675 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.3015A>C (p.Pro1005=) | single nucleotide variant | Joubert syndrome 21 [RCV002180004] | Chr8:67175342 [GRCh38] Chr8:68087577 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.738T>C (p.His246=) | single nucleotide variant | Joubert syndrome 21 [RCV002155260] | Chr8:67095547 [GRCh38] Chr8:68007782 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.3157-19del | deletion | Joubert syndrome 21 [RCV002159185] | Chr8:67179843 [GRCh38] Chr8:68092078 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1599C>T (p.Phe533=) | single nucleotide variant | Joubert syndrome 21 [RCV003110465] | Chr8:67118350 [GRCh38] Chr8:68030585 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1958C>T (p.Ala653Val) | single nucleotide variant | Inborn genetic diseases [RCV004614399]|Joubert syndrome 21 [RCV003111842] | Chr8:67137586 [GRCh38] Chr8:68049821 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3331-8A>G | single nucleotide variant | Joubert syndrome 21 [RCV003111967] | Chr8:67193456 [GRCh38] Chr8:68105691 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2643+4T>C | single nucleotide variant | Joubert syndrome 21 [RCV003114915] | Chr8:67161919 [GRCh38] Chr8:68074154 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1857_1860del (p.Lys619fs) | microsatellite | Joubert syndrome 21 [RCV003116256] | Chr8:67137480..67137483 [GRCh38] Chr8:68049715..68049718 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.100-11G>A | single nucleotide variant | Joubert syndrome 21 [RCV003121612] | Chr8:67076471 [GRCh38] Chr8:67988706 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.-54_-51del | deletion | Joubert syndrome 21 [RCV003121693] | Chr8:67064494..67064497 [GRCh38] Chr8:67976729..67976732 [GRCh37] Chr8:8q13.1 |
likely pathogenic |
NC_000008.10:g.(?_67976634)_(68658364_?)del | deletion | Joubert syndrome 21 [RCV003122721] | Chr8:67976634..68658364 [GRCh37] Chr8:8q13.1-13.2 |
pathogenic |
NC_000008.10:g.(?_68070662)_(68071392_?)del | deletion | Joubert syndrome 21 [RCV003122722] | Chr8:68070662..68071392 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NC_000008.10:g.(?_68015252)_(68015390_?)dup | duplication | Joubert syndrome 21 [RCV003122723] | Chr8:68015252..68015390 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NC_000008.10:g.(?_67976634)_(68071392_?)dup | duplication | Joubert syndrome 21 [RCV003122724] | Chr8:67976634..68071392 [GRCh37] Chr8:8q13.1-13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3461T>C (p.Ile1154Thr) | single nucleotide variant | Inborn genetic diseases [RCV003290761] | Chr8:67193594 [GRCh38] Chr8:68105829 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1746A>G (p.Ile582Met) | single nucleotide variant | not provided [RCV003156605] | Chr8:67131999 [GRCh38] Chr8:68044234 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3424C>T (p.Arg1142Ter) | single nucleotide variant | Joubert syndrome 21 [RCV003095870]|not provided [RCV002260866] | Chr8:67193557 [GRCh38] Chr8:68105792 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3470-2A>G | single nucleotide variant | not provided [RCV002261479] | Chr8:67195380 [GRCh38] Chr8:68107615 [GRCh37] Chr8:8q13.2 |
not provided |
NM_001382391.1(CSPP1):c.1698-2A>G | single nucleotide variant | not provided [RCV002274853] | Chr8:67131949 [GRCh38] Chr8:68044184 [GRCh37] Chr8:8q13.2 |
not provided |
NM_001382391.1(CSPP1):c.3140T>C (p.Val1047Ala) | single nucleotide variant | not provided [RCV002292038] | Chr8:67177710 [GRCh38] Chr8:68089945 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3437T>C (p.Leu1146Pro) | single nucleotide variant | Joubert syndrome 21 [RCV002296998] | Chr8:67193570 [GRCh38] Chr8:68105805 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1576T>A (p.Phe526Ile) | single nucleotide variant | Joubert syndrome 21 [RCV003095997]|not provided [RCV002265463] | Chr8:67118327 [GRCh38] Chr8:68030562 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2876G>A (p.Arg959Gln) | single nucleotide variant | not provided [RCV002469549] | Chr8:67172463 [GRCh38] Chr8:68084698 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1187+1G>A | single nucleotide variant | Joubert syndrome 21 [RCV002283870] | Chr8:67112066 [GRCh38] Chr8:68024301 [GRCh37] Chr8:8q13.2 |
pathogenic|likely pathogenic |
NM_001382391.1(CSPP1):c.2723A>G (p.Asn908Ser) | single nucleotide variant | Joubert syndrome 21 [RCV002303450] | Chr8:67164403 [GRCh38] Chr8:68076638 [GRCh37] Chr8:8q13.2 |
uncertain significance |
GRCh37/hg19 8q13.1-13.2(chr8:67642641-68406704)x1 | copy number loss | not provided [RCV002473707] | Chr8:67642641..68406704 [GRCh37] Chr8:8q13.1-13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2810A>G (p.Asp937Gly) | single nucleotide variant | Joubert syndrome 21 [RCV002296311] | Chr8:67164490 [GRCh38] Chr8:68076725 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1066T>C (p.Cys356Arg) | single nucleotide variant | Joubert syndrome 21 [RCV002298243] | Chr8:67105948 [GRCh38] Chr8:68018183 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1298T>G (p.Leu433Arg) | single nucleotide variant | Joubert syndrome 21 [RCV002300128] | Chr8:67115924 [GRCh38] Chr8:68028159 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.251A>C (p.Lys84Thr) | single nucleotide variant | Inborn genetic diseases [RCV003269162]|Joubert syndrome 21 [RCV002296697] | Chr8:67086058 [GRCh38] Chr8:67998293 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.3399T>A (p.Asp1133Glu) | single nucleotide variant | Joubert syndrome 21 [RCV003011830] | Chr8:67193532 [GRCh38] Chr8:68105767 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1504C>T (p.Pro502Ser) | single nucleotide variant | Joubert syndrome 21 [RCV003012295] | Chr8:67118255 [GRCh38] Chr8:68030490 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.475A>G (p.Ser159Gly) | single nucleotide variant | Joubert syndrome 21 [RCV002615195] | Chr8:67093633 [GRCh38] Chr8:68005868 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.1497-6A>G | single nucleotide variant | Joubert syndrome 21 [RCV002995171] | Chr8:67118242 [GRCh38] Chr8:68030477 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.3170C>A (p.Thr1057Asn) | single nucleotide variant | Joubert syndrome 21 [RCV002904141] | Chr8:67179876 [GRCh38] Chr8:68092111 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.-56del | deletion | Joubert syndrome 21 [RCV002726416] | Chr8:67064490 [GRCh38] Chr8:67976725 [GRCh37] Chr8:8q13.1 |
pathogenic |
NM_001382391.1(CSPP1):c.2411A>C (p.Glu804Ala) | single nucleotide variant | Joubert syndrome 21 [RCV002839244] | Chr8:67159010 [GRCh38] Chr8:68071245 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.-150A>T | single nucleotide variant | Joubert syndrome 21 [RCV002994356] | Chr8:67064399 [GRCh38] Chr8:67976634 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.2589A>G (p.Ala863=) | single nucleotide variant | Joubert syndrome 21 [RCV002751044] | Chr8:67161861 [GRCh38] Chr8:68074096 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.635T>G (p.Leu212Arg) | single nucleotide variant | Joubert syndrome 21 [RCV002681958] | Chr8:67095444 [GRCh38] Chr8:68007679 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.2824A>G (p.Ile942Val) | single nucleotide variant | Inborn genetic diseases [RCV005323369]|Joubert syndrome 21 [RCV002616614] | Chr8:67164504 [GRCh38] Chr8:68076739 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1828-11A>G | single nucleotide variant | Joubert syndrome 21 [RCV003012147] | Chr8:67137445 [GRCh38] Chr8:68049680 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.719G>A (p.Gly240Asp) | single nucleotide variant | Joubert syndrome 21 [RCV002991709] | Chr8:67095528 [GRCh38] Chr8:68007763 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.966_967delinsAA (p.His322_Asp323delinsGlnAsn) | indel | Joubert syndrome 21 [RCV002908103] | Chr8:67103079..67103080 [GRCh38] Chr8:68015314..68015315 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.-149T>G | single nucleotide variant | Joubert syndrome 21 [RCV003012313] | Chr8:67064400 [GRCh38] Chr8:67976635 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.1618+15G>T | single nucleotide variant | Joubert syndrome 21 [RCV003077024] | Chr8:67118384 [GRCh38] Chr8:68030619 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2674C>T (p.Pro892Ser) | single nucleotide variant | Inborn genetic diseases [RCV002752371] | Chr8:67163762 [GRCh38] Chr8:68075997 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.-147C>G | single nucleotide variant | Joubert syndrome 21 [RCV002947362] | Chr8:67064402 [GRCh38] Chr8:67976637 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.1288-11_1288-8del | deletion | Joubert syndrome 21 [RCV002756548] | Chr8:67115900..67115903 [GRCh38] Chr8:68028135..68028138 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.3563C>T (p.Pro1188Leu) | single nucleotide variant | Joubert syndrome 21 [RCV003075442] | Chr8:67195475 [GRCh38] Chr8:68107710 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.-36C>T | single nucleotide variant | Joubert syndrome 21 [RCV002996517] | Chr8:67064513 [GRCh38] Chr8:67976748 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.2631T>C (p.Arg877=) | single nucleotide variant | Joubert syndrome 21 [RCV002816124] | Chr8:67161903 [GRCh38] Chr8:68074138 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2241+15G>A | single nucleotide variant | Joubert syndrome 21 [RCV003076451] | Chr8:67154151 [GRCh38] Chr8:68066386 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2538+13C>A | single nucleotide variant | Joubert syndrome 21 [RCV002991869] | Chr8:67159150 [GRCh38] Chr8:68071385 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1497-8T>C | single nucleotide variant | Joubert syndrome 21 [RCV002995498] | Chr8:67118240 [GRCh38] Chr8:68030475 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1867G>A (p.Glu623Lys) | single nucleotide variant | Joubert syndrome 21 [RCV002816056] | Chr8:67137495 [GRCh38] Chr8:68049730 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1188-2A>G | single nucleotide variant | Joubert syndrome 21 [RCV002880859] | Chr8:67113803 [GRCh38] Chr8:68026038 [GRCh37] Chr8:8q13.2 |
likely pathogenic |
NM_001382391.1(CSPP1):c.1745T>C (p.Ile582Thr) | single nucleotide variant | Inborn genetic diseases [RCV002906162] | Chr8:67131998 [GRCh38] Chr8:68044233 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3400G>A (p.Glu1134Lys) | single nucleotide variant | Joubert syndrome 21 [RCV002775177] | Chr8:67193533 [GRCh38] Chr8:68105768 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.-68G>C | single nucleotide variant | Joubert syndrome 21 [RCV002685908] | Chr8:67064481 [GRCh38] Chr8:67976716 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.2529A>G (p.Glu843=) | single nucleotide variant | Joubert syndrome 21 [RCV002996282] | Chr8:67159128 [GRCh38] Chr8:68071363 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.3598G>A (p.Glu1200Lys) | single nucleotide variant | Joubert syndrome 21 [RCV002996936] | Chr8:67195510 [GRCh38] Chr8:68107745 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1188-5T>A | single nucleotide variant | Joubert syndrome 21 [RCV003014258] | Chr8:67113800 [GRCh38] Chr8:68026035 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.3438G>C (p.Leu1146=) | single nucleotide variant | Joubert syndrome 21 [RCV003033388] | Chr8:67193571 [GRCh38] Chr8:68105806 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1828-1G>C | single nucleotide variant | Joubert syndrome 21 [RCV002996306] | Chr8:67137455 [GRCh38] Chr8:68049690 [GRCh37] Chr8:8q13.2 |
likely pathogenic |
NM_001382391.1(CSPP1):c.1051G>A (p.Ala351Thr) | single nucleotide variant | Joubert syndrome 21 [RCV003016774] | Chr8:67105933 [GRCh38] Chr8:68018168 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.663T>G (p.Asp221Glu) | single nucleotide variant | Joubert syndrome 21 [RCV002512441] | Chr8:67095472 [GRCh38] Chr8:68007707 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.3330+17del | deletion | Joubert syndrome 21 [RCV002903593] | Chr8:67190773 [GRCh38] Chr8:68103008 [GRCh37] Chr8:8q13.2 |
benign |
NM_001382391.1(CSPP1):c.672C>T (p.Ile224=) | single nucleotide variant | Joubert syndrome 21 [RCV002926858]|not provided [RCV003434520] | Chr8:67095481 [GRCh38] Chr8:68007716 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.1764T>C (p.Phe588=) | single nucleotide variant | Joubert syndrome 21 [RCV003003199] | Chr8:67132017 [GRCh38] Chr8:68044252 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2687G>A (p.Arg896Lys) | single nucleotide variant | Joubert syndrome 21 [RCV002928105] | Chr8:67163775 [GRCh38] Chr8:68076010 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1093+16C>A | single nucleotide variant | Joubert syndrome 21 [RCV003053527] | Chr8:67105991 [GRCh38] Chr8:68018226 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.-139G>C | single nucleotide variant | Joubert syndrome 21 [RCV002572131] | Chr8:67064410 [GRCh38] Chr8:67976645 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.239_240del (p.Asp79_Tyr80insTer) | deletion | Joubert syndrome 21 [RCV002638901] | Chr8:67086045..67086046 [GRCh38] Chr8:67998280..67998281 [GRCh37] Chr8:8q13.1 |
pathogenic |
NM_001382391.1(CSPP1):c.-57C>G | single nucleotide variant | Inborn genetic diseases [RCV003081584]|Joubert syndrome 21 [RCV003069072] | Chr8:67064492 [GRCh38] Chr8:67976727 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.1045A>G (p.Lys349Glu) | single nucleotide variant | Joubert syndrome 21 [RCV002820673] | Chr8:67105927 [GRCh38] Chr8:68018162 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1457G>A (p.Ser486Asn) | single nucleotide variant | Joubert syndrome 21 [RCV003038462] | Chr8:67116083 [GRCh38] Chr8:68028318 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3398A>C (p.Asp1133Ala) | single nucleotide variant | Joubert syndrome 21 [RCV003021918] | Chr8:67193531 [GRCh38] Chr8:68105766 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3072G>C (p.Lys1024Asn) | single nucleotide variant | Joubert syndrome 21 [RCV003019469] | Chr8:67175399 [GRCh38] Chr8:68087634 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.436A>G (p.Lys146Glu) | single nucleotide variant | Joubert syndrome 21 [RCV002593407] | Chr8:67093594 [GRCh38] Chr8:68005829 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.2697G>A (p.Gln899=) | single nucleotide variant | Joubert syndrome 21 [RCV003021896] | Chr8:67163785 [GRCh38] Chr8:68076020 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.3470-12T>C | single nucleotide variant | Joubert syndrome 21 [RCV002636265] | Chr8:67195370 [GRCh38] Chr8:68107605 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1827G>A (p.Gln609=) | single nucleotide variant | Joubert syndrome 21 [RCV002796966] | Chr8:67132080 [GRCh38] Chr8:68044315 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3220+7A>G | single nucleotide variant | Joubert syndrome 21 [RCV003002844] | Chr8:67179933 [GRCh38] Chr8:68092168 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3622C>T (p.Gln1208Ter) | single nucleotide variant | Joubert syndrome 21 [RCV002825478] | Chr8:67195534 [GRCh38] Chr8:68107769 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.-138C>T | single nucleotide variant | Joubert syndrome 21 [RCV003053049] | Chr8:67064411 [GRCh38] Chr8:67976646 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.106T>C (p.Leu36=) | single nucleotide variant | Joubert syndrome 21 [RCV003077350] | Chr8:67076488 [GRCh38] Chr8:67988723 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.2832A>G (p.Lys944=) | single nucleotide variant | Joubert syndrome 21 [RCV003100191] | Chr8:67172419 [GRCh38] Chr8:68084654 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1027C>T (p.Pro343Ser) | single nucleotide variant | Joubert syndrome 21 [RCV002760677] | Chr8:67105909 [GRCh38] Chr8:68018144 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1975+18A>C | single nucleotide variant | Joubert syndrome 21 [RCV002999716] | Chr8:67137621 [GRCh38] Chr8:68049856 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.3585dup (p.Arg1196fs) | duplication | Joubert syndrome 21 [RCV002705615] | Chr8:67195494..67195495 [GRCh38] Chr8:68107729..68107730 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1567G>T (p.Ala523Ser) | single nucleotide variant | Joubert syndrome 21 [RCV002796631] | Chr8:67118318 [GRCh38] Chr8:68030553 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2644-11T>G | single nucleotide variant | Joubert syndrome 21 [RCV002847306] | Chr8:67163721 [GRCh38] Chr8:68075956 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2242-13T>C | single nucleotide variant | Joubert syndrome 21 [RCV002998739] | Chr8:67158434 [GRCh38] Chr8:68070669 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1691C>G (p.Pro564Arg) | single nucleotide variant | Joubert syndrome 21 [RCV002975968] | Chr8:67118815 [GRCh38] Chr8:68031050 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2821C>G (p.Pro941Ala) | single nucleotide variant | Joubert syndrome 21 [RCV003019887] | Chr8:67164501 [GRCh38] Chr8:68076736 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2781A>G (p.Leu927=) | single nucleotide variant | Joubert syndrome 21 [RCV002756844] | Chr8:67164461 [GRCh38] Chr8:68076696 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.3639A>G (p.Pro1213=) | single nucleotide variant | Joubert syndrome 21 [RCV002867252] | Chr8:67195551 [GRCh38] Chr8:68107786 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2136G>A (p.Met712Ile) | single nucleotide variant | Joubert syndrome 21 [RCV003018587] | Chr8:67154031 [GRCh38] Chr8:68066266 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3293G>A (p.Arg1098Gln) | single nucleotide variant | Joubert syndrome 21 [RCV002658583] | Chr8:67190722 [GRCh38] Chr8:68102957 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3141A>G (p.Val1047=) | single nucleotide variant | Joubert syndrome 21 [RCV002909273] | Chr8:67177711 [GRCh38] Chr8:68089946 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1111C>T (p.Leu371Phe) | single nucleotide variant | Joubert syndrome 21 [RCV003080723] | Chr8:67111989 [GRCh38] Chr8:68024224 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1612G>T (p.Ala538Ser) | single nucleotide variant | Joubert syndrome 21 [RCV002591830] | Chr8:67118363 [GRCh38] Chr8:68030598 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2188A>G (p.Thr730Ala) | single nucleotide variant | Joubert syndrome 21 [RCV002824362] | Chr8:67154083 [GRCh38] Chr8:68066318 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3221-5C>T | single nucleotide variant | Joubert syndrome 21 [RCV002761501] | Chr8:67190645 [GRCh38] Chr8:68102880 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1724A>G (p.Lys575Arg) | single nucleotide variant | Joubert syndrome 21 [RCV002885521] | Chr8:67131977 [GRCh38] Chr8:68044212 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.403C>T (p.Arg135Cys) | single nucleotide variant | Joubert syndrome 21 [RCV002979658] | Chr8:67093561 [GRCh38] Chr8:68005796 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.3220+13_3220+16del | microsatellite | Joubert syndrome 21 [RCV003036325] | Chr8:67179934..67179937 [GRCh38] Chr8:68092169..68092172 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.3354A>G (p.Ala1118=) | single nucleotide variant | CSPP1-related disorder [RCV003936437]|Joubert syndrome 21 [RCV002953166] | Chr8:67193487 [GRCh38] Chr8:68105722 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.483+6T>C | single nucleotide variant | Joubert syndrome 21 [RCV002909185] | Chr8:67093647 [GRCh38] Chr8:68005882 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.2657C>T (p.Ser886Phe) | single nucleotide variant | Inborn genetic diseases [RCV002590656]|Joubert syndrome 21 [RCV002590657] | Chr8:67163745 [GRCh38] Chr8:68075980 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.585T>G (p.Asp195Glu) | single nucleotide variant | Inborn genetic diseases [RCV002868798] | Chr8:67095394 [GRCh38] Chr8:68007629 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.3283C>A (p.Pro1095Thr) | single nucleotide variant | Joubert syndrome 21 [RCV002923485] | Chr8:67190712 [GRCh38] Chr8:68102947 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1521C>G (p.Pro507=) | single nucleotide variant | Joubert syndrome 21 [RCV002591829] | Chr8:67118272 [GRCh38] Chr8:68030507 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.3652T>C (p.Trp1218Arg) | single nucleotide variant | Joubert syndrome 21 [RCV002912485] | Chr8:67195564 [GRCh38] Chr8:68107799 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.259_263del (p.Leu87fs) | deletion | Joubert syndrome 21 [RCV003079178] | Chr8:67086062..67086066 [GRCh38] Chr8:67998297..67998301 [GRCh37] Chr8:8q13.1 |
pathogenic |
NM_001382391.1(CSPP1):c.3306G>T (p.Arg1102Ser) | single nucleotide variant | Inborn genetic diseases [RCV002661366] | Chr8:67190735 [GRCh38] Chr8:68102970 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.-73G>C | single nucleotide variant | Joubert syndrome 21 [RCV002636841] | Chr8:67064476 [GRCh38] Chr8:67976711 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.1784C>A (p.Ser595Tyr) | single nucleotide variant | Joubert syndrome 21 [RCV002636344] | Chr8:67132037 [GRCh38] Chr8:68044272 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.264del (p.Glu89fs) | deletion | Joubert syndrome 21 [RCV002590381] | Chr8:67086068 [GRCh38] Chr8:67998303 [GRCh37] Chr8:8q13.1 |
pathogenic |
NM_001382391.1(CSPP1):c.1188-15T>G | single nucleotide variant | Joubert syndrome 21 [RCV002876020] | Chr8:67113790 [GRCh38] Chr8:68026025 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.-125C>A | single nucleotide variant | Joubert syndrome 21 [RCV002829378] | Chr8:67064424 [GRCh38] Chr8:67976659 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.442G>T (p.Glu148Ter) | single nucleotide variant | Joubert syndrome 21 [RCV003057104] | Chr8:67093600 [GRCh38] Chr8:68005835 [GRCh37] Chr8:8q13.1 |
pathogenic |
NM_001382391.1(CSPP1):c.1083del (p.Met362fs) | deletion | Joubert syndrome 21 [RCV002875553] | Chr8:67105963 [GRCh38] Chr8:68018198 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.2122A>C (p.Ser708Arg) | single nucleotide variant | Joubert syndrome 21 [RCV002790417] | Chr8:67149929 [GRCh38] Chr8:68062164 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.100-2A>C | single nucleotide variant | Joubert syndrome 21 [RCV002876211] | Chr8:67076480 [GRCh38] Chr8:67988715 [GRCh37] Chr8:8q13.1 |
likely pathogenic |
NM_001382391.1(CSPP1):c.1975+5G>A | single nucleotide variant | Joubert syndrome 21 [RCV002958511] | Chr8:67137608 [GRCh38] Chr8:68049843 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1850G>A (p.Arg617Lys) | single nucleotide variant | Inborn genetic diseases [RCV002957956]|Joubert syndrome 21 [RCV002957955] | Chr8:67137478 [GRCh38] Chr8:68049713 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1619-8del | deletion | Joubert syndrome 21 [RCV002575890] | Chr8:67118730 [GRCh38] Chr8:68030965 [GRCh37] Chr8:8q13.2 |
benign |
NM_001382391.1(CSPP1):c.-104A>G | single nucleotide variant | Joubert syndrome 21 [RCV003040544] | Chr8:67064445 [GRCh38] Chr8:67976680 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.633A>G (p.Arg211=) | single nucleotide variant | Joubert syndrome 21 [RCV003042543] | Chr8:67095442 [GRCh38] Chr8:68007677 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.577A>G (p.Arg193Gly) | single nucleotide variant | Joubert syndrome 21 [RCV002918504] | Chr8:67095386 [GRCh38] Chr8:68007621 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.3254A>G (p.Asp1085Gly) | single nucleotide variant | Inborn genetic diseases [RCV003269349]|Joubert syndrome 21 [RCV002954279] | Chr8:67190683 [GRCh38] Chr8:68102918 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3510A>G (p.Lys1170=) | single nucleotide variant | Joubert syndrome 21 [RCV003043500] | Chr8:67195422 [GRCh38] Chr8:68107657 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.3166G>A (p.Asp1056Asn) | single nucleotide variant | Joubert syndrome 21 [RCV003005025] | Chr8:67179872 [GRCh38] Chr8:68092107 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.228T>C (p.Leu76=) | single nucleotide variant | Joubert syndrome 21 [RCV003084395] | Chr8:67086035 [GRCh38] Chr8:67998270 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.236A>T (p.Asp79Val) | single nucleotide variant | Joubert syndrome 21 [RCV002791223] | Chr8:67086043 [GRCh38] Chr8:67998278 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.224C>T (p.Pro75Leu) | single nucleotide variant | Joubert syndrome 21 [RCV002932496] | Chr8:67086031 [GRCh38] Chr8:67998266 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.816G>T (p.Arg272=) | single nucleotide variant | Joubert syndrome 21 [RCV003043393] | Chr8:67095625 [GRCh38] Chr8:68007860 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.2062T>C (p.Ser688Pro) | single nucleotide variant | Joubert syndrome 21 [RCV003056970] | Chr8:67149869 [GRCh38] Chr8:68062104 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.291T>C (p.Arg97=) | single nucleotide variant | Joubert syndrome 21 [RCV002829233] | Chr8:67086098 [GRCh38] Chr8:67998333 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.2183C>G (p.Pro728Arg) | single nucleotide variant | Joubert syndrome 21 [RCV002890556] | Chr8:67154078 [GRCh38] Chr8:68066313 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.638A>G (p.Glu213Gly) | single nucleotide variant | Joubert syndrome 21 [RCV002850892] | Chr8:67095447 [GRCh38] Chr8:68007682 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.1023-16_1023-13del | deletion | Joubert syndrome 21 [RCV002624170] | Chr8:67105886..67105889 [GRCh38] Chr8:68018121..68018124 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1023-9T>A | single nucleotide variant | Joubert syndrome 21 [RCV002595276] | Chr8:67105896 [GRCh38] Chr8:68018131 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.3289G>A (p.Ala1097Thr) | single nucleotide variant | Joubert syndrome 21 [RCV002624239] | Chr8:67190718 [GRCh38] Chr8:68102953 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1023-3T>C | single nucleotide variant | Joubert syndrome 21 [RCV003042048] | Chr8:67105902 [GRCh38] Chr8:68018137 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1989G>A (p.Arg663=) | single nucleotide variant | Joubert syndrome 21 [RCV002917546] | Chr8:67149796 [GRCh38] Chr8:68062031 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1023-4T>G | single nucleotide variant | Joubert syndrome 21 [RCV002766170] | Chr8:67105901 [GRCh38] Chr8:68018136 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.99+5A>G | single nucleotide variant | Joubert syndrome 21 [RCV003082354] | Chr8:67074356 [GRCh38] Chr8:67986591 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.3330+19T>A | single nucleotide variant | Joubert syndrome 21 [RCV002740801] | Chr8:67190778 [GRCh38] Chr8:68103013 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2869A>G (p.Arg957Gly) | single nucleotide variant | Joubert syndrome 21 [RCV003040855] | Chr8:67172456 [GRCh38] Chr8:68084691 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2370G>T (p.Lys790Asn) | single nucleotide variant | Joubert syndrome 21 [RCV002623359] | Chr8:67158575 [GRCh38] Chr8:68070810 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1093+16C>G | single nucleotide variant | Joubert syndrome 21 [RCV002625334] | Chr8:67105991 [GRCh38] Chr8:68018226 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.3478A>C (p.Ser1160Arg) | single nucleotide variant | Joubert syndrome 21 [RCV002890558] | Chr8:67195390 [GRCh38] Chr8:68107625 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3469+10C>T | single nucleotide variant | Joubert syndrome 21 [RCV003043045] | Chr8:67193612 [GRCh38] Chr8:68105847 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2788C>G (p.Arg930Gly) | single nucleotide variant | Joubert syndrome 21 [RCV002596207] | Chr8:67164468 [GRCh38] Chr8:68076703 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3477_3479dup (p.Glu1159_Ser1160insArg) | duplication | Joubert syndrome 21 [RCV002890565] | Chr8:67195388..67195389 [GRCh38] Chr8:68107623..68107624 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.449G>T (p.Ser150Ile) | single nucleotide variant | Inborn genetic diseases [RCV002744901]|Joubert syndrome 21 [RCV005059444] | Chr8:67093607 [GRCh38] Chr8:68005842 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.2295A>G (p.Ala765=) | single nucleotide variant | Joubert syndrome 21 [RCV002957380] | Chr8:67158500 [GRCh38] Chr8:68070735 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2740T>C (p.Ser914Pro) | single nucleotide variant | Joubert syndrome 21 [RCV003007204] | Chr8:67164420 [GRCh38] Chr8:68076655 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3330+20C>T | single nucleotide variant | Joubert syndrome 21 [RCV003085119] | Chr8:67190779 [GRCh38] Chr8:68103014 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.903G>A (p.Ser301=) | single nucleotide variant | CSPP1-related disorder [RCV003926406]|Joubert syndrome 21 [RCV002576098] | Chr8:67095712 [GRCh38] Chr8:68007947 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.1600G>T (p.Asp534Tyr) | single nucleotide variant | Joubert syndrome 21 [RCV002624314] | Chr8:67118351 [GRCh38] Chr8:68030586 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2323G>C (p.Glu775Gln) | single nucleotide variant | Joubert syndrome 21 [RCV003058863] | Chr8:67158528 [GRCh38] Chr8:68070763 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1209G>C (p.Arg403Ser) | single nucleotide variant | Joubert syndrome 21 [RCV002623295] | Chr8:67113826 [GRCh38] Chr8:68026061 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3525C>A (p.Asp1175Glu) | single nucleotide variant | Joubert syndrome 21 [RCV002593967] | Chr8:67195437 [GRCh38] Chr8:68107672 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.206A>G (p.Asp69Gly) | single nucleotide variant | Joubert syndrome 21 [RCV002572723] | Chr8:67086013 [GRCh38] Chr8:67998248 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.2037A>T (p.Thr679=) | single nucleotide variant | Joubert syndrome 21 [RCV002626961] | Chr8:67149844 [GRCh38] Chr8:68062079 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1172A>G (p.Gln391Arg) | single nucleotide variant | Joubert syndrome 21 [RCV003022180] | Chr8:67112050 [GRCh38] Chr8:68024285 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3606G>C (p.Leu1202=) | single nucleotide variant | Joubert syndrome 21 [RCV002626707] | Chr8:67195518 [GRCh38] Chr8:68107753 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1196A>G (p.Asp399Gly) | single nucleotide variant | Joubert syndrome 21 [RCV002801673] | Chr8:67113813 [GRCh38] Chr8:68026048 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2821C>A (p.Pro941Thr) | single nucleotide variant | Joubert syndrome 21 [RCV003023703] | Chr8:67164501 [GRCh38] Chr8:68076736 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2128+24_2128+36del | deletion | Joubert syndrome 21 [RCV002596295] | Chr8:67149948..67149960 [GRCh38] Chr8:68062183..68062195 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2644-18G>C | single nucleotide variant | Joubert syndrome 21 [RCV002711993] | Chr8:67163714 [GRCh38] Chr8:68075949 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.3253G>A (p.Asp1085Asn) | single nucleotide variant | Joubert syndrome 21 [RCV002876088] | Chr8:67190682 [GRCh38] Chr8:68102917 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2184T>C (p.Pro728=) | single nucleotide variant | Joubert syndrome 21 [RCV002894409] | Chr8:67154079 [GRCh38] Chr8:68066314 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.3266del (p.Pro1089fs) | deletion | Joubert syndrome 21 [RCV002626911] | Chr8:67190693 [GRCh38] Chr8:68102928 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.2669C>A (p.Ser890Ter) | single nucleotide variant | Joubert syndrome 21 [RCV002851901] | Chr8:67163757 [GRCh38] Chr8:68075992 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.2128+11A>C | single nucleotide variant | Joubert syndrome 21 [RCV003056130] | Chr8:67149946 [GRCh38] Chr8:68062181 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2753A>G (p.Lys918Arg) | single nucleotide variant | Joubert syndrome 21 [RCV003023502] | Chr8:67164433 [GRCh38] Chr8:68076668 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1406C>T (p.Pro469Leu) | single nucleotide variant | Joubert syndrome 21 [RCV003040554] | Chr8:67116032 [GRCh38] Chr8:68028267 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1771A>C (p.Lys591Gln) | single nucleotide variant | Joubert syndrome 21 [RCV002957798] | Chr8:67132024 [GRCh38] Chr8:68044259 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2594A>G (p.Lys865Arg) | single nucleotide variant | Joubert syndrome 21 [RCV002851217] | Chr8:67161866 [GRCh38] Chr8:68074101 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.200-5del | deletion | Joubert syndrome 21 [RCV002766803] | Chr8:67085995 [GRCh38] Chr8:67998230 [GRCh37] Chr8:8q13.1 |
benign |
NM_001382391.1(CSPP1):c.2391+4C>T | single nucleotide variant | Joubert syndrome 21 [RCV003084988] | Chr8:67158600 [GRCh38] Chr8:68070835 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2675C>T (p.Pro892Leu) | single nucleotide variant | Inborn genetic diseases [RCV004978462]|Joubert syndrome 21 [RCV003005099]|Retinal dystrophy [RCV004817161] | Chr8:67163763 [GRCh38] Chr8:68075998 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1556C>A (p.Pro519His) | single nucleotide variant | Joubert syndrome 21 [RCV002851300] | Chr8:67118307 [GRCh38] Chr8:68030542 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1498A>T (p.Ile500Phe) | single nucleotide variant | Joubert syndrome 21 [RCV002721186] | Chr8:67118249 [GRCh38] Chr8:68030484 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2101C>T (p.Leu701=) | single nucleotide variant | Joubert syndrome 21 [RCV002856582] | Chr8:67149908 [GRCh38] Chr8:68062143 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1991T>C (p.Met664Thr) | single nucleotide variant | Joubert syndrome 21 [RCV003028158] | Chr8:67149798 [GRCh38] Chr8:68062033 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2377G>C (p.Glu793Gln) | single nucleotide variant | Joubert syndrome 21 [RCV002580233] | Chr8:67158582 [GRCh38] Chr8:68070817 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3155T>C (p.Met1052Thr) | single nucleotide variant | Joubert syndrome 21 [RCV003065923] | Chr8:67177725 [GRCh38] Chr8:68089960 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1775C>T (p.Pro592Leu) | single nucleotide variant | Joubert syndrome 21 [RCV002721174] | Chr8:67132028 [GRCh38] Chr8:68044263 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2514C>G (p.Asp838Glu) | single nucleotide variant | Joubert syndrome 21 [RCV003047460]|not provided [RCV003443108] | Chr8:67159113 [GRCh38] Chr8:68071348 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1722G>A (p.Leu574=) | single nucleotide variant | Joubert syndrome 21 [RCV002966415] | Chr8:67131975 [GRCh38] Chr8:68044210 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.169C>T (p.Pro57Ser) | single nucleotide variant | Joubert syndrome 21 [RCV003090947] | Chr8:67076551 [GRCh38] Chr8:67988786 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.3662T>C (p.Leu1221Pro) | single nucleotide variant | Joubert syndrome 21 [RCV002720242] | Chr8:67195574 [GRCh38] Chr8:68107809 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.30del (p.Glu11fs) | deletion | Joubert syndrome 21 [RCV003089289] | Chr8:67074281 [GRCh38] Chr8:67986516 [GRCh37] Chr8:8q13.1 |
pathogenic |
NM_001382391.1(CSPP1):c.2124C>T (p.Ser708=) | single nucleotide variant | Joubert syndrome 21 [RCV002581617] | Chr8:67149931 [GRCh38] Chr8:68062166 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.3652_3662del (p.Trp1218fs) | deletion | Joubert syndrome 21 [RCV003064146] | Chr8:67195562..67195572 [GRCh38] Chr8:68107797..68107807 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1188-3T>C | single nucleotide variant | Inborn genetic diseases [RCV003070210]|Joubert syndrome 21 [RCV003091248] | Chr8:67113802 [GRCh38] Chr8:68026037 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1969C>G (p.Leu657Val) | single nucleotide variant | Joubert syndrome 21 [RCV002900620] | Chr8:67137597 [GRCh38] Chr8:68049832 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1094-6A>G | single nucleotide variant | Joubert syndrome 21 [RCV003065456] | Chr8:67111966 [GRCh38] Chr8:68024201 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1288-12del | deletion | Joubert syndrome 21 [RCV002628186] | Chr8:67115895 [GRCh38] Chr8:68028130 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1024G>T (p.Ala342Ser) | single nucleotide variant | Joubert syndrome 21 [RCV002715453] | Chr8:67105906 [GRCh38] Chr8:68018141 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2266G>T (p.Glu756Ter) | single nucleotide variant | Joubert syndrome 21 [RCV002833541] | Chr8:67158471 [GRCh38] Chr8:68070706 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.796G>A (p.Asp266Asn) | single nucleotide variant | Joubert syndrome 21 [RCV002578880] | Chr8:67095605 [GRCh38] Chr8:68007840 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.-90C>T | single nucleotide variant | Joubert syndrome 21 [RCV002598105] | Chr8:67064459 [GRCh38] Chr8:67976694 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.3366C>T (p.Leu1122=) | single nucleotide variant | Joubert syndrome 21 [RCV002834601] | Chr8:67193499 [GRCh38] Chr8:68105734 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1102G>A (p.Asp368Asn) | single nucleotide variant | Joubert syndrome 21 [RCV002856462] | Chr8:67111980 [GRCh38] Chr8:68024215 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.959T>C (p.Met320Thr) | single nucleotide variant | Joubert syndrome 21 [RCV002922586] | Chr8:67103072 [GRCh38] Chr8:68015307 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3660C>T (p.Gly1220=) | single nucleotide variant | Joubert syndrome 21 [RCV002937497] | Chr8:67195572 [GRCh38] Chr8:68107807 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2538+19T>C | single nucleotide variant | Joubert syndrome 21 [RCV003027246] | Chr8:67159156 [GRCh38] Chr8:68071391 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1677C>T (p.His559=) | single nucleotide variant | Joubert syndrome 21 [RCV002962673] | Chr8:67118801 [GRCh38] Chr8:68031036 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.745T>C (p.Phe249Leu) | single nucleotide variant | Joubert syndrome 21 [RCV002746407] | Chr8:67095554 [GRCh38] Chr8:68007789 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.3105C>T (p.Ala1035=) | single nucleotide variant | Joubert syndrome 21 [RCV002629076] | Chr8:67175432 [GRCh38] Chr8:68087667 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2600A>G (p.Gln867Arg) | single nucleotide variant | Joubert syndrome 21 [RCV002834516] | Chr8:67161872 [GRCh38] Chr8:68074107 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1359A>G (p.Arg453=) | single nucleotide variant | Joubert syndrome 21 [RCV002770386] | Chr8:67115985 [GRCh38] Chr8:68028220 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.417C>T (p.Tyr139=) | single nucleotide variant | Joubert syndrome 21 [RCV002856640] | Chr8:67093575 [GRCh38] Chr8:68005810 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.1023-16G>A | single nucleotide variant | Joubert syndrome 21 [RCV003090097] | Chr8:67105889 [GRCh38] Chr8:68018124 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.-10-5del | deletion | Joubert syndrome 21 [RCV003061099] | Chr8:67074230 [GRCh38] Chr8:67986465 [GRCh37] Chr8:8q13.1 |
benign |
NM_001382391.1(CSPP1):c.385-16del | deletion | Joubert syndrome 21 [RCV002895536] | Chr8:67093524 [GRCh38] Chr8:68005759 [GRCh37] Chr8:8q13.1 |
benign |
NM_001382391.1(CSPP1):c.1942G>A (p.Ala648Thr) | single nucleotide variant | Joubert syndrome 21 [RCV002770429] | Chr8:67137570 [GRCh38] Chr8:68049805 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.42C>T (p.Ala14=) | single nucleotide variant | Joubert syndrome 21 [RCV002899191] | Chr8:67074294 [GRCh38] Chr8:67986529 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.2514C>T (p.Asp838=) | single nucleotide variant | Joubert syndrome 21 [RCV002877001] | Chr8:67159113 [GRCh38] Chr8:68071348 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2523T>C (p.Ile841=) | single nucleotide variant | Joubert syndrome 21 [RCV003088176] | Chr8:67159122 [GRCh38] Chr8:68071357 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.441A>G (p.Glu147=) | single nucleotide variant | Joubert syndrome 21 [RCV002601673] | Chr8:67093599 [GRCh38] Chr8:68005834 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.1780C>T (p.Pro594Ser) | single nucleotide variant | Joubert syndrome 21 [RCV002675713] | Chr8:67132033 [GRCh38] Chr8:68044268 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2796A>G (p.Leu932=) | single nucleotide variant | Joubert syndrome 21 [RCV002646248] | Chr8:67164476 [GRCh38] Chr8:68076711 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2829-7T>C | single nucleotide variant | Joubert syndrome 21 [RCV003046694] | Chr8:67172409 [GRCh38] Chr8:68084644 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1395C>A (p.Ala465=) | single nucleotide variant | Joubert syndrome 21 [RCV002810623] | Chr8:67116021 [GRCh38] Chr8:68028256 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2477_2478insT (p.Lys826fs) | insertion | Joubert syndrome 21 [RCV002857145] | Chr8:67159076..67159077 [GRCh38] Chr8:68071311..68071312 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.955C>G (p.Pro319Ala) | single nucleotide variant | Inborn genetic diseases [RCV002963948] | Chr8:67103068 [GRCh38] Chr8:68015303 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2530G>C (p.Glu844Gln) | single nucleotide variant | Joubert syndrome 21 [RCV002601225] | Chr8:67159129 [GRCh38] Chr8:68071364 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.936C>G (p.Asn312Lys) | single nucleotide variant | Inborn genetic diseases [RCV002836196] | Chr8:67103049 [GRCh38] Chr8:68015284 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3213T>C (p.Ala1071=) | single nucleotide variant | Joubert syndrome 21 [RCV003090923] | Chr8:67179919 [GRCh38] Chr8:68092154 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1801T>C (p.Ser601Pro) | single nucleotide variant | Joubert syndrome 21 [RCV003027293] | Chr8:67132054 [GRCh38] Chr8:68044289 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.385-9dup | duplication | Joubert syndrome 21 [RCV002629678] | Chr8:67093529..67093530 [GRCh38] Chr8:68005764..68005765 [GRCh37] Chr8:8q13.1 |
benign |
NM_001382391.1(CSPP1):c.-47A>G | single nucleotide variant | Joubert syndrome 21 [RCV002671554] | Chr8:67064502 [GRCh38] Chr8:67976737 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.1384C>T (p.Pro462Ser) | single nucleotide variant | Joubert syndrome 21 [RCV002714866] | Chr8:67116010 [GRCh38] Chr8:68028245 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3221-1G>A | single nucleotide variant | Joubert syndrome 21 [RCV002877521] | Chr8:67190649 [GRCh38] Chr8:68102884 [GRCh37] Chr8:8q13.2 |
likely pathogenic |
NM_001382391.1(CSPP1):c.3569C>T (p.Thr1190Ile) | single nucleotide variant | Joubert syndrome 21 [RCV002672035] | Chr8:67195481 [GRCh38] Chr8:68107716 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2969-19A>G | single nucleotide variant | Joubert syndrome 21 [RCV003090388] | Chr8:67175277 [GRCh38] Chr8:68087512 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2539-18A>G | single nucleotide variant | Joubert syndrome 21 [RCV002937189] | Chr8:67161793 [GRCh38] Chr8:68074028 [GRCh37] Chr8:8q13.2 |
likely benign|uncertain significance |
NM_001382391.1(CSPP1):c.676T>A (p.Leu226Ile) | single nucleotide variant | Joubert syndrome 21 [RCV002720110]|Retinal dystrophy [RCV004817098] | Chr8:67095485 [GRCh38] Chr8:68007720 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.2419C>G (p.Arg807Gly) | single nucleotide variant | Inborn genetic diseases [RCV003071191]|Joubert syndrome 21 [RCV003064785] | Chr8:67159018 [GRCh38] Chr8:68071253 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1078G>T (p.Ala360Ser) | single nucleotide variant | Joubert syndrome 21 [RCV002580649] | Chr8:67105960 [GRCh38] Chr8:68018195 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2315G>A (p.Arg772Gln) | single nucleotide variant | Joubert syndrome 21 [RCV003064901] | Chr8:67158520 [GRCh38] Chr8:68070755 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.166C>T (p.Pro56Ser) | single nucleotide variant | Inborn genetic diseases [RCV005323339]|Joubert syndrome 21 [RCV003091749] | Chr8:67076548 [GRCh38] Chr8:67988783 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.2048A>G (p.Lys683Arg) | single nucleotide variant | Inborn genetic diseases [RCV002959725] | Chr8:67149855 [GRCh38] Chr8:68062090 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2785G>C (p.Glu929Gln) | single nucleotide variant | Joubert syndrome 21 [RCV002856259] | Chr8:67164465 [GRCh38] Chr8:68076700 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.434G>A (p.Gly145Asp) | single nucleotide variant | Inborn genetic diseases [RCV003294429]|Joubert syndrome 21 [RCV003062764] | Chr8:67093592 [GRCh38] Chr8:68005827 [GRCh37] Chr8:8q13.1 |
likely benign|uncertain significance |
NM_001382391.1(CSPP1):c.200-5T>C | single nucleotide variant | Joubert syndrome 21 [RCV002833060] | Chr8:67086002 [GRCh38] Chr8:67998237 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.1022G>A (p.Ser341Asn) | single nucleotide variant | Joubert syndrome 21 [RCV003068445] | Chr8:67103135 [GRCh38] Chr8:68015370 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2103A>G (p.Leu701=) | single nucleotide variant | Joubert syndrome 21 [RCV002814326] | Chr8:67149910 [GRCh38] Chr8:68062145 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1975+6T>C | single nucleotide variant | Joubert syndrome 21 [RCV002722015] | Chr8:67137609 [GRCh38] Chr8:68049844 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1131G>A (p.Glu377=) | single nucleotide variant | Joubert syndrome 21 [RCV003069305] | Chr8:67112009 [GRCh38] Chr8:68024244 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.3640G>T (p.Gly1214Cys) | single nucleotide variant | Joubert syndrome 21 [RCV003092753] | Chr8:67195552 [GRCh38] Chr8:68107787 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2491C>T (p.Leu831Phe) | single nucleotide variant | Joubert syndrome 21 [RCV002814611] | Chr8:67159090 [GRCh38] Chr8:68071325 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.873A>C (p.Arg291Ser) | single nucleotide variant | Joubert syndrome 21 [RCV002604657] | Chr8:67095682 [GRCh38] Chr8:68007917 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.1245+7G>A | single nucleotide variant | Joubert syndrome 21 [RCV003032085] | Chr8:67113869 [GRCh38] Chr8:68026104 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.692T>C (p.Ile231Thr) | single nucleotide variant | Joubert syndrome 21 [RCV003067443] | Chr8:67095501 [GRCh38] Chr8:68007736 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.-121A>C | single nucleotide variant | Joubert syndrome 21 [RCV002585655] | Chr8:67064428 [GRCh38] Chr8:67976663 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.1210G>T (p.Val404Phe) | single nucleotide variant | Joubert syndrome 21 [RCV002609296] | Chr8:67113827 [GRCh38] Chr8:68026062 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.843A>C (p.Glu281Asp) | single nucleotide variant | Joubert syndrome 21 [RCV002586705] | Chr8:67095652 [GRCh38] Chr8:68007887 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.3439A>C (p.Asn1147His) | single nucleotide variant | Joubert syndrome 21 [RCV003071551] | Chr8:67193572 [GRCh38] Chr8:68105807 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1425T>G (p.His475Gln) | single nucleotide variant | Joubert syndrome 21 [RCV002633493] | Chr8:67116051 [GRCh38] Chr8:68028286 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2835G>A (p.Lys945=) | single nucleotide variant | Joubert syndrome 21 [RCV002589216] | Chr8:67172422 [GRCh38] Chr8:68084657 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2791T>C (p.Leu931=) | single nucleotide variant | Joubert syndrome 21 [RCV003071745] | Chr8:67164471 [GRCh38] Chr8:68076706 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1541C>A (p.Thr514Asn) | single nucleotide variant | Joubert syndrome 21 [RCV003052661] | Chr8:67118292 [GRCh38] Chr8:68030527 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3580C>T (p.Leu1194=) | single nucleotide variant | Joubert syndrome 21 [RCV003072074] | Chr8:67195492 [GRCh38] Chr8:68107727 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.3168C>T (p.Asp1056=) | single nucleotide variant | Joubert syndrome 21 [RCV002680773] | Chr8:67179874 [GRCh38] Chr8:68092109 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1317A>C (p.Ala439=) | single nucleotide variant | Joubert syndrome 21 [RCV002585581] | Chr8:67115943 [GRCh38] Chr8:68028178 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1456A>G (p.Ser486Gly) | single nucleotide variant | Joubert syndrome 21 [RCV003072422] | Chr8:67116082 [GRCh38] Chr8:68028317 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2297A>G (p.Glu766Gly) | single nucleotide variant | Joubert syndrome 21 [RCV003051384] | Chr8:67158502 [GRCh38] Chr8:68070737 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1029A>T (p.Pro343=) | single nucleotide variant | Joubert syndrome 21 [RCV002942862] | Chr8:67105911 [GRCh38] Chr8:68018146 [GRCh37] Chr8:8q13.2 |
likely benign |
NC_000008.11:g.67064385_67064399del | deletion | Joubert syndrome 21 [RCV002654652] | Chr8:67064385..67064399 [GRCh38] Chr8:67976620..67976634 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.2542A>G (p.Met848Val) | single nucleotide variant | Joubert syndrome 21 [RCV002611695] | Chr8:67161814 [GRCh38] Chr8:68074049 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.579A>G (p.Arg193=) | single nucleotide variant | Joubert syndrome 21 [RCV003070133] | Chr8:67095388 [GRCh38] Chr8:68007623 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.1218G>A (p.Ala406=) | single nucleotide variant | Joubert syndrome 21 [RCV002612674] | Chr8:67113835 [GRCh38] Chr8:68026070 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.294T>A (p.Tyr98Ter) | single nucleotide variant | Joubert syndrome 21 [RCV004796438] | Chr8:67086101 [GRCh38] Chr8:67998336 [GRCh37] Chr8:8q13.1 |
pathogenic |
NM_001382391.1(CSPP1):c.922A>G (p.Arg308Gly) | single nucleotide variant | not provided [RCV003221665] | Chr8:67095731 [GRCh38] Chr8:68007966 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.3425G>A (p.Arg1142Gln) | single nucleotide variant | Inborn genetic diseases [RCV003191805] | Chr8:67193558 [GRCh38] Chr8:68105793 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3586C>T (p.Arg1196Cys) | single nucleotide variant | not provided [RCV003221729] | Chr8:67195498 [GRCh38] Chr8:68107733 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3641G>A (p.Gly1214Asp) | single nucleotide variant | Joubert syndrome 21 [RCV003143381] | Chr8:67195553 [GRCh38] Chr8:68107788 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3330+2T>C | single nucleotide variant | Joubert syndrome 21 [RCV003143380] | Chr8:67190761 [GRCh38] Chr8:68102996 [GRCh37] Chr8:8q13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001382391.1(CSPP1):c.2969-3C>G | single nucleotide variant | not provided [RCV003228374] | Chr8:67175293 [GRCh38] Chr8:68087528 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2899C>T (p.Gln967Ter) | single nucleotide variant | not provided [RCV003319684] | Chr8:67172486 [GRCh38] Chr8:68084721 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.1602T>C (p.Asp534=) | single nucleotide variant | not provided [RCV003423936] | Chr8:67118353 [GRCh38] Chr8:68030588 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1624del (p.Ser542fs) | deletion | Joubert syndrome 21 [RCV003479785] | Chr8:67118747 [GRCh38] Chr8:68030982 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.2082C>T (p.Ala694=) | single nucleotide variant | Joubert syndrome 21 [RCV003873808] | Chr8:67149889 [GRCh38] Chr8:68062124 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.3143G>A (p.Arg1048Gln) | single nucleotide variant | Joubert syndrome 21 [RCV003743449] | Chr8:67177713 [GRCh38] Chr8:68089948 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1824G>A (p.Gln608=) | single nucleotide variant | not provided [RCV003435516] | Chr8:67132077 [GRCh38] Chr8:68044312 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.3470-4G>A | single nucleotide variant | Joubert syndrome 21 [RCV003583665] | Chr8:67195378 [GRCh38] Chr8:68107613 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1245G>T (p.Ser415=) | single nucleotide variant | Joubert syndrome 21 [RCV003876314] | Chr8:67113862 [GRCh38] Chr8:68026097 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3273A>G (p.Pro1091=) | single nucleotide variant | Joubert syndrome 21 [RCV003583807] | Chr8:67190702 [GRCh38] Chr8:68102937 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.3525C>T (p.Asp1175=) | single nucleotide variant | Joubert syndrome 21 [RCV003745097] | Chr8:67195437 [GRCh38] Chr8:68107672 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.30A>G (p.Glu10=) | single nucleotide variant | Joubert syndrome 21 [RCV003878230] | Chr8:67074282 [GRCh38] Chr8:67986517 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.1619-13T>C | single nucleotide variant | Joubert syndrome 21 [RCV003881203] | Chr8:67118730 [GRCh38] Chr8:68030965 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.3330+13C>A | single nucleotide variant | Joubert syndrome 21 [RCV003744102] | Chr8:67190772 [GRCh38] Chr8:68103007 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.3220+8T>C | single nucleotide variant | Joubert syndrome 21 [RCV003744130] | Chr8:67179934 [GRCh38] Chr8:68092169 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.3126C>T (p.Ile1042=) | single nucleotide variant | Joubert syndrome 21 [RCV003744416] | Chr8:67177696 [GRCh38] Chr8:68089931 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.3660C>A (p.Gly1220=) | single nucleotide variant | Joubert syndrome 21 [RCV003744474] | Chr8:67195572 [GRCh38] Chr8:68107807 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.3470-20G>A | single nucleotide variant | Joubert syndrome 21 [RCV003745717] | Chr8:67195362 [GRCh38] Chr8:68107597 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.200-13del | deletion | Joubert syndrome 21 [RCV003876859] | Chr8:67085994 [GRCh38] Chr8:67998229 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.3454A>G (p.Lys1152Glu) | single nucleotide variant | Joubert syndrome 21 [RCV003583803] | Chr8:67193587 [GRCh38] Chr8:68105822 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3395T>C (p.Val1132Ala) | single nucleotide variant | Joubert syndrome 21 [RCV003745874] | Chr8:67193528 [GRCh38] Chr8:68105763 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2969-8T>A | single nucleotide variant | Joubert syndrome 21 [RCV003745782] | Chr8:67175288 [GRCh38] Chr8:68087523 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.3221-10G>A | single nucleotide variant | Joubert syndrome 21 [RCV003744440] | Chr8:67190640 [GRCh38] Chr8:68102875 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.3330+13C>T | single nucleotide variant | Joubert syndrome 21 [RCV003745785] | Chr8:67190772 [GRCh38] Chr8:68103007 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.3135T>C (p.Ala1045=) | single nucleotide variant | Joubert syndrome 21 [RCV003583294] | Chr8:67177705 [GRCh38] Chr8:68089940 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1023-14C>T | single nucleotide variant | Joubert syndrome 21 [RCV003743148] | Chr8:67105891 [GRCh38] Chr8:68018126 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1698-12T>C | single nucleotide variant | Joubert syndrome 21 [RCV003743147] | Chr8:67131939 [GRCh38] Chr8:68044174 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2855T>C (p.Ile952Thr) | single nucleotide variant | Joubert syndrome 21 [RCV003745193] | Chr8:67172442 [GRCh38] Chr8:68084677 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.853G>T (p.Glu285Ter) | single nucleotide variant | Joubert syndrome 21 [RCV003743175] | Chr8:67095662 [GRCh38] Chr8:68007897 [GRCh37] Chr8:8q13.1 |
pathogenic |
NM_001382391.1(CSPP1):c.1288-12T>C | single nucleotide variant | Joubert syndrome 21 [RCV003745151] | Chr8:67115902 [GRCh38] Chr8:68028137 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.818A>G (p.Tyr273Cys) | single nucleotide variant | Joubert syndrome 21 [RCV003743372] | Chr8:67095627 [GRCh38] Chr8:68007862 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.252A>G (p.Lys84=) | single nucleotide variant | Joubert syndrome 21 [RCV003743470] | Chr8:67086059 [GRCh38] Chr8:67998294 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.549G>A (p.Gln183=) | single nucleotide variant | Joubert syndrome 21 [RCV003745758] | Chr8:67095358 [GRCh38] Chr8:68007593 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.1188-20A>C | single nucleotide variant | Joubert syndrome 21 [RCV003583315] | Chr8:67113785 [GRCh38] Chr8:68026020 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2392-8T>C | single nucleotide variant | Joubert syndrome 21 [RCV003745846] | Chr8:67158983 [GRCh38] Chr8:68071218 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.385-12T>A | single nucleotide variant | Joubert syndrome 21 [RCV003583341] | Chr8:67093531 [GRCh38] Chr8:68005766 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.930C>T (p.His310=) | single nucleotide variant | Joubert syndrome 21 [RCV003852670] | Chr8:67103043 [GRCh38] Chr8:68015278 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2538+18A>G | single nucleotide variant | Joubert syndrome 21 [RCV003583331] | Chr8:67159155 [GRCh38] Chr8:68071390 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1698-4G>C | single nucleotide variant | Joubert syndrome 21 [RCV003745894] | Chr8:67131947 [GRCh38] Chr8:68044182 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.486C>A (p.Pro162=) | single nucleotide variant | Joubert syndrome 21 [RCV003744157] | Chr8:67095295 [GRCh38] Chr8:68007530 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.2373A>G (p.Lys791=) | single nucleotide variant | Joubert syndrome 21 [RCV003744197] | Chr8:67158578 [GRCh38] Chr8:68070813 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1698-13_1698-12del | microsatellite | Joubert syndrome 21 [RCV003744301] | Chr8:67131935..67131936 [GRCh38] Chr8:68044170..68044171 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.468G>C (p.Val156=) | single nucleotide variant | Joubert syndrome 21 [RCV003744292] | Chr8:67093626 [GRCh38] Chr8:68005861 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.3470-16C>T | single nucleotide variant | Joubert syndrome 21 [RCV003832482] | Chr8:67195366 [GRCh38] Chr8:68107601 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2739A>G (p.Leu913=) | single nucleotide variant | Joubert syndrome 21 [RCV003744455] | Chr8:67164419 [GRCh38] Chr8:68076654 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2205del (p.Lys735fs) | deletion | Joubert syndrome 21 [RCV003745032] | Chr8:67154098 [GRCh38] Chr8:68066333 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.-74G>A | single nucleotide variant | Joubert syndrome 21 [RCV003743233] | Chr8:67064475 [GRCh38] Chr8:67976710 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.1710A>G (p.Gly570=) | single nucleotide variant | Joubert syndrome 21 [RCV003745859] | Chr8:67131963 [GRCh38] Chr8:68044198 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1697+5_1697+16dup | duplication | Joubert syndrome 21 [RCV003743129] | Chr8:67118822..67118823 [GRCh38] Chr8:68031057..68031058 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.63A>C (p.Ala21=) | single nucleotide variant | Joubert syndrome 21 [RCV003744180] | Chr8:67074315 [GRCh38] Chr8:67986550 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.2206C>T (p.Gln736Ter) | single nucleotide variant | Joubert syndrome 21 [RCV003743198] | Chr8:67154101 [GRCh38] Chr8:68066336 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.162C>T (p.Asn54=) | single nucleotide variant | Joubert syndrome 21 [RCV003583250] | Chr8:67076544 [GRCh38] Chr8:67988779 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.2129-4C>G | single nucleotide variant | Joubert syndrome 21 [RCV003745881] | Chr8:67154020 [GRCh38] Chr8:68066255 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2539-8T>A | single nucleotide variant | Joubert syndrome 21 [RCV003583582] | Chr8:67161803 [GRCh38] Chr8:68074038 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.483+2T>A | single nucleotide variant | Joubert syndrome 21 [RCV003744165] | Chr8:67093643 [GRCh38] Chr8:68005878 [GRCh37] Chr8:8q13.1 |
likely pathogenic |
NM_001382391.1(CSPP1):c.200-18_200-16del | microsatellite | Joubert syndrome 21 [RCV003583647] | Chr8:67085986..67085988 [GRCh38] Chr8:67998221..67998223 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.816G>A (p.Arg272=) | single nucleotide variant | Joubert syndrome 21 [RCV003583864] | Chr8:67095625 [GRCh38] Chr8:68007860 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.2201T>A (p.Ile734Asn) | single nucleotide variant | Joubert syndrome 21 [RCV003745031] | Chr8:67154096 [GRCh38] Chr8:68066331 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.274C>A (p.Arg92=) | single nucleotide variant | Joubert syndrome 21 [RCV003583444] | Chr8:67086081 [GRCh38] Chr8:67998316 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.2644-11T>C | single nucleotide variant | Joubert syndrome 21 [RCV003745118] | Chr8:67163721 [GRCh38] Chr8:68075956 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.750A>G (p.Ala250=) | single nucleotide variant | Joubert syndrome 21 [RCV003583492] | Chr8:67095559 [GRCh38] Chr8:68007794 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.2282_2283del (p.Arg761fs) | microsatellite | Joubert syndrome 21 [RCV003583978] | Chr8:67158481..67158482 [GRCh38] Chr8:68070716..68070717 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.-10-20A>G | single nucleotide variant | Joubert syndrome 21 [RCV003815809] | Chr8:67074223 [GRCh38] Chr8:67986458 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.2637T>C (p.Phe879=) | single nucleotide variant | Joubert syndrome 21 [RCV003583462] | Chr8:67161909 [GRCh38] Chr8:68074144 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2644-15A>C | single nucleotide variant | Joubert syndrome 21 [RCV003583809] | Chr8:67163717 [GRCh38] Chr8:68075952 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2711-13T>C | single nucleotide variant | Joubert syndrome 21 [RCV003745211] | Chr8:67164378 [GRCh38] Chr8:68076613 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2218T>C (p.Tyr740His) | single nucleotide variant | Joubert syndrome 21 [RCV003583595] | Chr8:67154113 [GRCh38] Chr8:68066348 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2643+11T>C | single nucleotide variant | Joubert syndrome 21 [RCV003583605] | Chr8:67161926 [GRCh38] Chr8:68074161 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2584del (p.Ile862fs) | deletion | Joubert syndrome 21 [RCV003743226] | Chr8:67161853 [GRCh38] Chr8:68074088 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.-43A>C | single nucleotide variant | Joubert syndrome 21 [RCV003744345] | Chr8:67064506 [GRCh38] Chr8:67976741 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.2388G>A (p.Glu796=) | single nucleotide variant | Joubert syndrome 21 [RCV003744370] | Chr8:67158593 [GRCh38] Chr8:68070828 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1022+1G>C | single nucleotide variant | Joubert syndrome 21 [RCV003744422] | Chr8:67103136 [GRCh38] Chr8:68015371 [GRCh37] Chr8:8q13.2 |
likely pathogenic |
NM_001382391.1(CSPP1):c.2643+16T>A | single nucleotide variant | Joubert syndrome 21 [RCV003743396] | Chr8:67161931 [GRCh38] Chr8:68074166 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2829-8A>G | single nucleotide variant | Joubert syndrome 21 [RCV003743530] | Chr8:67172408 [GRCh38] Chr8:68084643 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1960A>G (p.Lys654Glu) | single nucleotide variant | Joubert syndrome 21 [RCV003745855] | Chr8:67137588 [GRCh38] Chr8:68049823 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NC_000008.10:g.(68018211_68024206)_(68108850_?)dup | duplication | not specified [RCV003994830] | Chr8:68024206..68108850 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2580C>T (p.Asn860=) | single nucleotide variant | Joubert syndrome 21 [RCV003583378] | Chr8:67161852 [GRCh38] Chr8:68074087 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2943T>C (p.His981=) | single nucleotide variant | Joubert syndrome 21 [RCV003583409] | Chr8:67172530 [GRCh38] Chr8:68084765 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1749T>C (p.Asn583=) | single nucleotide variant | Joubert syndrome 21 [RCV003744296] | Chr8:67132002 [GRCh38] Chr8:68044237 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.-10-13T>A | single nucleotide variant | Joubert syndrome 21 [RCV003583450] | Chr8:67074230 [GRCh38] Chr8:67986465 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.2241+19A>C | single nucleotide variant | Joubert syndrome 21 [RCV003583709] | Chr8:67154155 [GRCh38] Chr8:68066390 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1187+7A>G | single nucleotide variant | Joubert syndrome 21 [RCV003583599] | Chr8:67112072 [GRCh38] Chr8:68024307 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2499C>T (p.His833=) | single nucleotide variant | Joubert syndrome 21 [RCV003743437] | Chr8:67159098 [GRCh38] Chr8:68071333 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1410C>T (p.Pro470=) | single nucleotide variant | Joubert syndrome 21 [RCV003583349] | Chr8:67116036 [GRCh38] Chr8:68028271 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2703T>C (p.Arg901=) | single nucleotide variant | Joubert syndrome 21 [RCV003745861] | Chr8:67163791 [GRCh38] Chr8:68076026 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1618+8A>G | single nucleotide variant | Joubert syndrome 21 [RCV003583522] | Chr8:67118377 [GRCh38] Chr8:68030612 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.768A>G (p.Pro256=) | single nucleotide variant | Joubert syndrome 21 [RCV003845529] | Chr8:67095577 [GRCh38] Chr8:68007812 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.741A>G (p.Gln247=) | single nucleotide variant | Joubert syndrome 21 [RCV003852943] | Chr8:67095550 [GRCh38] Chr8:68007785 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.100-12T>C | single nucleotide variant | Joubert syndrome 21 [RCV003745903] | Chr8:67076470 [GRCh38] Chr8:67988705 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.2741C>G (p.Ser914Ter) | single nucleotide variant | Joubert syndrome 21 [RCV003868847] | Chr8:67164421 [GRCh38] Chr8:68076656 [GRCh37] Chr8:8q13.2 |
pathogenic |
GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3 | copy number gain | not specified [RCV003986754] | Chr8:27024288..89410121 [GRCh37] Chr8:8p21.2-q21.3 |
pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 | copy number gain | not specified [RCV003986742] | Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
NM_001382391.1(CSPP1):c.2263G>A (p.Glu755Lys) | single nucleotide variant | Joubert syndrome 21 [RCV003745980] | Chr8:67158468 [GRCh38] Chr8:68070703 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3222G>T (p.Gly1074=) | single nucleotide variant | Joubert syndrome 21 [RCV003848527] | Chr8:67190651 [GRCh38] Chr8:68102886 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.-10-1G>T | single nucleotide variant | Joubert syndrome 21 [RCV003843482] | Chr8:67074242 [GRCh38] Chr8:67986477 [GRCh37] Chr8:8q13.1 |
likely pathogenic |
NM_001382391.1(CSPP1):c.2538+20G>A | single nucleotide variant | Joubert syndrome 21 [RCV003745920] | Chr8:67159157 [GRCh38] Chr8:68071392 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.140dup (p.Ile48fs) | duplication | Joubert syndrome 21 [RCV003745930] | Chr8:67076521..67076522 [GRCh38] Chr8:67988756..67988757 [GRCh37] Chr8:8q13.1 |
pathogenic |
NM_001382391.1(CSPP1):c.2526G>A (p.Gly842=) | single nucleotide variant | Joubert syndrome 21 [RCV003870031] | Chr8:67159125 [GRCh38] Chr8:68071360 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2372_2376del (p.Lys791fs) | microsatellite | Joubert syndrome 21 [RCV003746007] | Chr8:67158570..67158574 [GRCh38] Chr8:68070805..68070809 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.1704G>T (p.Thr568=) | single nucleotide variant | Joubert syndrome 21 [RCV003745988] | Chr8:67131957 [GRCh38] Chr8:68044192 [GRCh37] Chr8:8q13.2 |
likely benign |
GRCh37/hg19 8q13.1-13.2(chr8:67848148-69198213)x1 | copy number loss | not specified [RCV003986764] | Chr8:67848148..69198213 [GRCh37] Chr8:8q13.1-13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.390G>T (p.Arg130Ser) | single nucleotide variant | Joubert syndrome 21 [RCV003841855] | Chr8:67093548 [GRCh38] Chr8:68005783 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.-10-4542C>T | single nucleotide variant | not provided [RCV003886890] | Chr8:67069701 [GRCh38] Chr8:67981936 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.1769A>G (p.Asp590Gly) | single nucleotide variant | Inborn genetic diseases [RCV004372663] | Chr8:67132022 [GRCh38] Chr8:68044257 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2056G>A (p.Val686Ile) | single nucleotide variant | Inborn genetic diseases [RCV004372664] | Chr8:67149863 [GRCh38] Chr8:68062098 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2549A>G (p.Gln850Arg) | single nucleotide variant | Inborn genetic diseases [RCV004372665] | Chr8:67161821 [GRCh38] Chr8:68074056 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3172A>G (p.Ser1058Gly) | single nucleotide variant | Inborn genetic diseases [RCV004372666] | Chr8:67179878 [GRCh38] Chr8:68092113 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.337T>C (p.Ser113Pro) | single nucleotide variant | CSPP1-related disorder [RCV003909662] | Chr8:67091836 [GRCh38] Chr8:68004071 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.1022+9T>C | single nucleotide variant | CSPP1-related disorder [RCV003899161] | Chr8:67103144 [GRCh38] Chr8:68015379 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.265G>A (p.Glu89Lys) | single nucleotide variant | CSPP1-related disorder [RCV004757916] | Chr8:67086072 [GRCh38] Chr8:67998307 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.2079A>G (p.Leu693=) | single nucleotide variant | CSPP1-related disorder [RCV003944551] | Chr8:67149886 [GRCh38] Chr8:68062121 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.385-2A>G | single nucleotide variant | Joubert syndrome 21 [RCV004555776] | Chr8:67093541 [GRCh38] Chr8:68005776 [GRCh37] Chr8:8q13.1 |
likely pathogenic |
NC_000008.10:g.(?_68024187)_(68031076_?)del | deletion | Joubert syndrome 21 [RCV004583294] | Chr8:68024187..68031076 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.-126G>C | single nucleotide variant | Inborn genetic diseases [RCV004613734] | Chr8:67064423 [GRCh38] Chr8:67976658 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NC_000008.10:g.(?_68102865)_(68103014_?)dup | duplication | Joubert syndrome 21 [RCV004583295] | Chr8:68102865..68103014 [GRCh37] Chr8:8q13.2 |
likely pathogenic |
NC_000008.10:g.(?_68061998)_(68089981_?)dup | duplication | Joubert syndrome 21 [RCV004583296] | Chr8:68061998..68089981 [GRCh37] Chr8:8q13.2 |
likely pathogenic |
NM_001382391.1(CSPP1):c.43A>T (p.Arg15Ter) | single nucleotide variant | CSPP1-related disorder [RCV004757895]|Joubert syndrome 21 [RCV004796885] | Chr8:67074295 [GRCh38] Chr8:67986530 [GRCh37] Chr8:8q13.1 |
likely pathogenic|uncertain significance |
NM_001382391.1(CSPP1):c.2612C>T (p.Ser871Leu) | single nucleotide variant | not provided [RCV004766226] | Chr8:67161884 [GRCh38] Chr8:68074119 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.-10-4491T>G | single nucleotide variant | not provided [RCV004810384] | Chr8:67069752 [GRCh38] Chr8:67981987 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.3526G>A (p.Gly1176Arg) | single nucleotide variant | not provided [RCV004762848] | Chr8:67195438 [GRCh38] Chr8:68107673 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2516A>G (p.Asn839Ser) | single nucleotide variant | Retinal dystrophy [RCV004816169] | Chr8:67159115 [GRCh38] Chr8:68071350 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2146_2147del (p.Ser716fs) | microsatellite | Joubert syndrome 21 [RCV004799159] | Chr8:67154039..67154040 [GRCh38] Chr8:68066274..68066275 [GRCh37] Chr8:8q13.2 |
likely pathogenic |
NM_001382391.1(CSPP1):c.2090A>G (p.Asn697Ser) | single nucleotide variant | CSPP1-related disorder [RCV004757878] | Chr8:67149897 [GRCh38] Chr8:68062132 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3145G>A (p.Glu1049Lys) | single nucleotide variant | not provided [RCV004727604] | Chr8:67177715 [GRCh38] Chr8:68089950 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2845C>T (p.Pro949Ser) | single nucleotide variant | Inborn genetic diseases [RCV004979268] | Chr8:67172432 [GRCh38] Chr8:68084667 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3221G>A (p.Gly1074Glu) | single nucleotide variant | Inborn genetic diseases [RCV004979270] | Chr8:67190650 [GRCh38] Chr8:68102885 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2996T>G (p.Phe999Cys) | single nucleotide variant | Inborn genetic diseases [RCV004979273] | Chr8:67175323 [GRCh38] Chr8:68087558 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.491G>A (p.Ser164Asn) | single nucleotide variant | Inborn genetic diseases [RCV004979275] | Chr8:67095300 [GRCh38] Chr8:68007535 [GRCh37] Chr8:8q13.1 |
likely benign |
GRCh37/hg19 8q13.2(chr8:68100336-70143632)x1 | copy number loss | not provided [RCV004819359] | Chr8:68100336..70143632 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.-9A>G | single nucleotide variant | Inborn genetic diseases [RCV004979265] | Chr8:67074244 [GRCh38] Chr8:67986479 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.110C>T (p.Ser37Leu) | single nucleotide variant | Inborn genetic diseases [RCV004979271] | Chr8:67076492 [GRCh38] Chr8:67988727 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.559G>A (p.Glu187Lys) | single nucleotide variant | Inborn genetic diseases [RCV004979272] | Chr8:67095368 [GRCh38] Chr8:68007603 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.1324C>G (p.His442Asp) | single nucleotide variant | Inborn genetic diseases [RCV004979266] | Chr8:67115950 [GRCh38] Chr8:68028185 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.994A>T (p.Ile332Leu) | single nucleotide variant | Inborn genetic diseases [RCV004979267] | Chr8:67103107 [GRCh38] Chr8:68015342 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.605C>T (p.Ala202Val) | single nucleotide variant | Inborn genetic diseases [RCV004979269] | Chr8:67095414 [GRCh38] Chr8:68007649 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.2582A>G (p.Lys861Arg) | single nucleotide variant | Inborn genetic diseases [RCV004979274] | Chr8:67161854 [GRCh38] Chr8:68074089 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2704G>A (p.Ala902Thr) | single nucleotide variant | Inborn genetic diseases [RCV004979276] | Chr8:67163792 [GRCh38] Chr8:68076027 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.2969-14A>G | single nucleotide variant | Joubert syndrome 21 [RCV005140268] | Chr8:67175282 [GRCh38] Chr8:68087517 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1108G>T (p.Glu370Ter) | single nucleotide variant | Joubert syndrome 21 [RCV005196555] | Chr8:67111986 [GRCh38] Chr8:68024221 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.1496+15G>A | single nucleotide variant | Joubert syndrome 21 [RCV005145627] | Chr8:67116137 [GRCh38] Chr8:68028372 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.3331-15_3331-13dup | duplication | Joubert syndrome 21 [RCV005142806] | Chr8:67193447..67193448 [GRCh38] Chr8:68105682..68105683 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.3067C>T (p.Gln1023Ter) | single nucleotide variant | Joubert syndrome 21 [RCV005186932] | Chr8:67175394 [GRCh38] Chr8:68087629 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.3663G>A (p.Leu1221=) | single nucleotide variant | Joubert syndrome 21 [RCV005156091] | Chr8:67195575 [GRCh38] Chr8:68107810 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1869A>G (p.Glu623=) | single nucleotide variant | Joubert syndrome 21 [RCV005176087] | Chr8:67137497 [GRCh38] Chr8:68049732 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.3396T>C (p.Val1132=) | single nucleotide variant | Joubert syndrome 21 [RCV005166640] | Chr8:67193529 [GRCh38] Chr8:68105764 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.3221-17T>C | single nucleotide variant | Joubert syndrome 21 [RCV005173200] | Chr8:67190633 [GRCh38] Chr8:68102868 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1560T>A (p.Tyr520Ter) | single nucleotide variant | Joubert syndrome 21 [RCV005144971] | Chr8:67118311 [GRCh38] Chr8:68030546 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.1838G>A (p.Arg613Lys) | single nucleotide variant | Joubert syndrome 21 [RCV005067624] | Chr8:67137466 [GRCh38] Chr8:68049701 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3636A>G (p.Lys1212=) | single nucleotide variant | Joubert syndrome 21 [RCV005082725] | Chr8:67195548 [GRCh38] Chr8:68107783 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1914T>C (p.Tyr638=) | single nucleotide variant | Joubert syndrome 21 [RCV005086744] | Chr8:67137542 [GRCh38] Chr8:68049777 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.3221-4T>C | single nucleotide variant | Joubert syndrome 21 [RCV005148961] | Chr8:67190646 [GRCh38] Chr8:68102881 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2969-17C>T | single nucleotide variant | Joubert syndrome 21 [RCV005149566] | Chr8:67175279 [GRCh38] Chr8:68087514 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.385-11T>G | single nucleotide variant | Joubert syndrome 21 [RCV005195789] | Chr8:67093532 [GRCh38] Chr8:68005767 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.3666G>A (p.Ser1222=) | single nucleotide variant | Joubert syndrome 21 [RCV005182227] | Chr8:67195578 [GRCh38] Chr8:68107813 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.3582G>A (p.Leu1194=) | single nucleotide variant | Joubert syndrome 21 [RCV005077827] | Chr8:67195494 [GRCh38] Chr8:68107729 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.3470-19T>C | single nucleotide variant | Joubert syndrome 21 [RCV005089115] | Chr8:67195363 [GRCh38] Chr8:68107598 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2969-4C>T | single nucleotide variant | Joubert syndrome 21 [RCV005163921] | Chr8:67175292 [GRCh38] Chr8:68087527 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.3369T>C (p.Ser1123=) | single nucleotide variant | Joubert syndrome 21 [RCV005195004] | Chr8:67193502 [GRCh38] Chr8:68105737 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1093+12A>G | single nucleotide variant | Joubert syndrome 21 [RCV005159292] | Chr8:67105987 [GRCh38] Chr8:68018222 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2352T>C (p.Tyr784=) | single nucleotide variant | Joubert syndrome 21 [RCV005183817] | Chr8:67158557 [GRCh38] Chr8:68070792 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2968+18C>T | single nucleotide variant | Joubert syndrome 21 [RCV005135850] | Chr8:67172573 [GRCh38] Chr8:68084808 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.-124T>C | single nucleotide variant | Joubert syndrome 21 [RCV005125487] | Chr8:67064425 [GRCh38] Chr8:67976660 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.271T>C (p.Leu91=) | single nucleotide variant | Joubert syndrome 21 [RCV005179602] | Chr8:67086078 [GRCh38] Chr8:67998313 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.1022+15A>T | single nucleotide variant | Joubert syndrome 21 [RCV005130887] | Chr8:67103150 [GRCh38] Chr8:68015385 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1094-9A>G | single nucleotide variant | Joubert syndrome 21 [RCV005160503] | Chr8:67111963 [GRCh38] Chr8:68024198 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.-70G>C | single nucleotide variant | Joubert syndrome 21 [RCV005176149] | Chr8:67064479 [GRCh38] Chr8:67976714 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.120T>G (p.Leu40=) | single nucleotide variant | Joubert syndrome 21 [RCV005176513] | Chr8:67076502 [GRCh38] Chr8:67988737 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.450del (p.Ser150fs) | deletion | Dandy-Walker malformation [RCV005241284] | Chr8:67093608 [GRCh38] Chr8:68005843 [GRCh37] Chr8:8q13.1 |
pathogenic |
NM_001382391.1(CSPP1):c.1697+12G>T | single nucleotide variant | Joubert syndrome 21 [RCV005181445] | Chr8:67118833 [GRCh38] Chr8:68031068 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.-112G>A | single nucleotide variant | Joubert syndrome 21 [RCV005143605] | Chr8:67064437 [GRCh38] Chr8:67976672 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.818dup (p.Tyr273Ter) | duplication | Inborn genetic diseases [RCV005315838]|Joubert syndrome 21 [RCV005187914] | Chr8:67095626..67095627 [GRCh38] Chr8:68007861..68007862 [GRCh37] Chr8:8q13.1 |
pathogenic |
NM_001382391.1(CSPP1):c.1055_1059del (p.Asn352fs) | deletion | Joubert syndrome 21 [RCV005205031] | Chr8:67105936..67105940 [GRCh38] Chr8:68018171..68018175 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.2828+8T>G | single nucleotide variant | Joubert syndrome 21 [RCV005111111] | Chr8:67164516 [GRCh38] Chr8:68076751 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.495G>A (p.Gln165=) | single nucleotide variant | not provided [RCV005243072] | Chr8:67095304 [GRCh38] Chr8:68007539 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.2560A>G (p.Ile854Val) | single nucleotide variant | Joubert syndrome 21 [RCV005167392] | Chr8:67161832 [GRCh38] Chr8:68074067 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1626A>G (p.Ser542=) | single nucleotide variant | Joubert syndrome 21 [RCV005140731] | Chr8:67118750 [GRCh38] Chr8:68030985 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1929del (p.Gly644fs) | deletion | Joubert syndrome 21 [RCV005135426] | Chr8:67137554 [GRCh38] Chr8:68049789 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.2711-17T>C | single nucleotide variant | Joubert syndrome 21 [RCV005080750] | Chr8:67164374 [GRCh38] Chr8:68076609 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2828+9A>C | single nucleotide variant | Joubert syndrome 21 [RCV005194676] | Chr8:67164517 [GRCh38] Chr8:68076752 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.229G>T (p.Gly77Ter) | single nucleotide variant | Joubert syndrome 21 [RCV005132016] | Chr8:67086036 [GRCh38] Chr8:67998271 [GRCh37] Chr8:8q13.1 |
pathogenic |
NM_001382391.1(CSPP1):c.-39A>C | single nucleotide variant | Joubert syndrome 21 [RCV005074304] | Chr8:67064510 [GRCh38] Chr8:67976745 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.213A>T (p.Gly71=) | single nucleotide variant | Joubert syndrome 21 [RCV005157648] | Chr8:67086020 [GRCh38] Chr8:67998255 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.1959A>C (p.Ala653=) | single nucleotide variant | Joubert syndrome 21 [RCV005207631] | Chr8:67137587 [GRCh38] Chr8:68049822 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1170A>G (p.Gln390=) | single nucleotide variant | Joubert syndrome 21 [RCV005078887] | Chr8:67112048 [GRCh38] Chr8:68024283 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1094-9A>C | single nucleotide variant | Joubert syndrome 21 [RCV005151582] | Chr8:67111963 [GRCh38] Chr8:68024198 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2968+14T>C | single nucleotide variant | Joubert syndrome 21 [RCV005182299] | Chr8:67172569 [GRCh38] Chr8:68084804 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2538+14A>G | single nucleotide variant | Joubert syndrome 21 [RCV005159817] | Chr8:67159151 [GRCh38] Chr8:68071386 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2607T>C (p.Pro869=) | single nucleotide variant | Joubert syndrome 21 [RCV005163920] | Chr8:67161879 [GRCh38] Chr8:68074114 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2257_2260del (p.Gln753fs) | deletion | Joubert syndrome 21 [RCV005083421] | Chr8:67158459..67158462 [GRCh38] Chr8:68070694..68070697 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.199+19T>G | single nucleotide variant | Joubert syndrome 21 [RCV005133194] | Chr8:67076600 [GRCh38] Chr8:67988835 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.438G>A (p.Lys146=) | single nucleotide variant | Joubert syndrome 21 [RCV005079729] | Chr8:67093596 [GRCh38] Chr8:68005831 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.-127C>G | single nucleotide variant | Joubert syndrome 21 [RCV005187932] | Chr8:67064422 [GRCh38] Chr8:67976657 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.200-18A>T | single nucleotide variant | Joubert syndrome 21 [RCV005166082] | Chr8:67085989 [GRCh38] Chr8:67998224 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.882T>C (p.Ser294=) | single nucleotide variant | Joubert syndrome 21 [RCV005122481] | Chr8:67095691 [GRCh38] Chr8:68007926 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.1022+7T>C | single nucleotide variant | Joubert syndrome 21 [RCV005124882] | Chr8:67103142 [GRCh38] Chr8:68015377 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.774A>G (p.Arg258=) | single nucleotide variant | Joubert syndrome 21 [RCV005070725] | Chr8:67095583 [GRCh38] Chr8:68007818 [GRCh37] Chr8:8q13.1 |
likely benign |
NM_001382391.1(CSPP1):c.2241+18C>A | single nucleotide variant | Joubert syndrome 21 [RCV005071648] | Chr8:67154154 [GRCh38] Chr8:68066389 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2241+14T>G | single nucleotide variant | Joubert syndrome 21 [RCV005202298] | Chr8:67154150 [GRCh38] Chr8:68066385 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2826C>T (p.Ile942=) | single nucleotide variant | Joubert syndrome 21 [RCV005131024] | Chr8:67164506 [GRCh38] Chr8:68076741 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.2679A>G (p.Val893=) | single nucleotide variant | Joubert syndrome 21 [RCV005182052] | Chr8:67163767 [GRCh38] Chr8:68076002 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.1380C>G (p.Leu460=) | single nucleotide variant | Joubert syndrome 21 [RCV005197237] | Chr8:67116006 [GRCh38] Chr8:68028241 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_001382391.1(CSPP1):c.258A>C (p.Lys86Asn) | single nucleotide variant | Inborn genetic diseases [RCV005317364] | Chr8:67086065 [GRCh38] Chr8:67998300 [GRCh37] Chr8:8q13.1 |
uncertain significance |
NM_001382391.1(CSPP1):c.1547A>G (p.Tyr516Cys) | single nucleotide variant | Inborn genetic diseases [RCV005317366] | Chr8:67118298 [GRCh38] Chr8:68030533 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.1827+1G>T | single nucleotide variant | not provided [RCV005251988] | Chr8:67132081 [GRCh38] Chr8:68044316 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.3302G>A (p.Arg1101Lys) | single nucleotide variant | Inborn genetic diseases [RCV005317365] | Chr8:67190731 [GRCh38] Chr8:68102966 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.-71C>G | single nucleotide variant | Inborn genetic diseases [RCV005317363] | Chr8:67064478 [GRCh38] Chr8:67976713 [GRCh37] Chr8:8q13.1 |
uncertain significance |
The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
SHGC-37325 |
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D8S1409E |
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SHGC-36348 |
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RH11702 |
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RH46944 |
|
adipose tissue
|
alimentary part of gastrointestinal system
|
appendage
|
circulatory system
|
ectoderm
|
endocrine system
|
endoderm
|
entire extraembryonic component
|
exocrine system
|
hemolymphoid system
|
hepatobiliary system
|
integumental system
|
mesenchyme
|
mesoderm
|
musculoskeletal system
|
nervous system
|
pharyngeal arch
|
renal system
|
reproductive system
|
respiratory system
|
sensory system
|
visual system
|
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1204 | 2439 | 2788 | 2252 | 4973 | 1726 | 2351 | 5 | 624 | 1950 | 465 | 2269 | 7302 | 6469 | 52 | 3734 | 1 | 852 | 1744 | 1616 | 174 | 1 |
RefSeq Transcripts | NG_034100 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001291339 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001363131 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001363132 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001363133 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001364869 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001364870 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001382391 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001438330 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001438331 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001438332 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_024790 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_005251305 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006716474 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006716477 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011517598 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011517599 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011517600 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011517601 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011517602 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011517603 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011517607 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011517609 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011517611 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017013847 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017013848 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017013849 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017013850 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017013851 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017013852 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017013854 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017013855 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017013856 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017013858 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_024447279 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_024447281 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_024447282 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_024447283 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_024447284 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047422244 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047422245 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047422246 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047422247 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047422249 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047422250 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047422251 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047422252 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047422253 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047422254 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047422255 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047422256 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047422257 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047422258 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047422259 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047422260 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047422261 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047422262 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054361247 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054361248 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054361249 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054361250 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054361251 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054361252 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054361253 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054361254 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054361255 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054361256 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054361257 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054361258 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054361259 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054361260 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054361261 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054361262 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054361263 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054361264 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054361265 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054361266 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054361267 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054361268 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054361269 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054361270 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054361271 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054361272 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054361273 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054361274 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054361275 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054361276 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC087359 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC109335 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AJ583433 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK026143 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK096205 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK127108 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK308372 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AM156947 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC022867 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC029445 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BG698003 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BM555375 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BX649147 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CA447290 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471068 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068270 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA177690 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA245734 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DB030075 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DB046430 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DW426634 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
HY040643 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENST00000262210 ⟹ ENSP00000262210 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000519163 ⟹ ENSP00000428694 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000519668 ⟹ ENSP00000430092 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000519701 ⟹ ENSP00000428793 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000521168 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000521324 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000521919 ⟹ ENSP00000429546 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000674647 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000674993 ⟹ ENSP00000502454 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000675306 ⟹ ENSP00000502421 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000675820 ⟹ ENSP00000501959 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000675869 ⟹ ENSP00000502747 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000675955 ⟹ ENSP00000501676 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000675990 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000676113 ⟹ ENSP00000501645 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000676317 ⟹ ENSP00000502047 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000676471 ⟹ ENSP00000503711 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000676534 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000676567 ⟹ ENSP00000503427 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000676573 ⟹ ENSP00000504532 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000676605 ⟹ ENSP00000503605 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000676656 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000676695 ⟹ ENSP00000503292 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000676697 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000676804 ⟹ ENSP00000504464 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000676847 ⟹ ENSP00000503336 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000676858 ⟹ ENSP00000502925 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000676882 ⟹ ENSP00000504342 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000676968 ⟹ ENSP00000504024 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000676980 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000677009 ⟹ ENSP00000503297 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000677052 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000677070 ⟹ ENSP00000503014 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000677071 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000677131 ⟹ ENSP00000503937 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000677256 ⟹ ENSP00000504102 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000677276 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000677430 ⟹ ENSP00000504177 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000677455 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000677473 ⟹ ENSP00000503534 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000677538 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000677592 ⟹ ENSP00000504516 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000677619 ⟹ ENSP00000504522 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000677697 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000677836 ⟹ ENSP00000504345 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000677845 ⟹ ENSP00000503524 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000677855 ⟹ ENSP00000504757 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000677938 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000677964 ⟹ ENSP00000504322 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000678017 ⟹ ENSP00000504394 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000678138 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000678156 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000678204 ⟹ ENSP00000504782 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000678216 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000678318 ⟹ ENSP00000503690 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000678345 ⟹ ENSP00000503668 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000678362 ⟹ ENSP00000504317 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000678444 ⟹ ENSP00000503879 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000678542 ⟹ ENSP00000503878 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000678553 ⟹ ENSP00000503747 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000678616 ⟹ ENSP00000504733 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000678635 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000678645 ⟹ ENSP00000504031 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000678685 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000678723 ⟹ ENSP00000503153 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000678728 ⟹ ENSP00000504830 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000678744 ⟹ ENSP00000503495 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000678747 ⟹ ENSP00000503390 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000678807 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000678821 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000678834 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000678895 ⟹ ENSP00000504461 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000678927 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000679042 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000679060 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000679112 ⟹ ENSP00000503739 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000679226 ⟹ ENSP00000503601 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000679274 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000679295 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000679322 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001291339 ⟹ NP_001278268 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001363131 ⟹ NP_001350060 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001363132 ⟹ NP_001350061 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001363133 ⟹ NP_001350062 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001364869 ⟹ NP_001351798 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001364870 ⟹ NP_001351799 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001382391 ⟹ NP_001369320 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_024790 ⟹ NP_079066 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | XM_005251305 ⟹ XP_005251362 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | XM_006716474 ⟹ XP_006716537 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_006716477 ⟹ XP_006716540 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011517598 ⟹ XP_011515900 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011517599 ⟹ XP_011515901 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011517601 ⟹ XP_011515903 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011517611 ⟹ XP_011515913 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_017013847 ⟹ XP_016869336 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_017013849 ⟹ XP_016869338 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_017013854 ⟹ XP_016869343 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_047422244 ⟹ XP_047278200 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047422245 ⟹ XP_047278201 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047422246 ⟹ XP_047278202 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047422247 ⟹ XP_047278203 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047422249 ⟹ XP_047278205 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047422250 ⟹ XP_047278206 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047422251 ⟹ XP_047278207 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047422252 ⟹ XP_047278208 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047422253 ⟹ XP_047278209 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047422254 ⟹ XP_047278210 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047422255 ⟹ XP_047278211 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047422256 ⟹ XP_047278212 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047422257 ⟹ XP_047278213 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047422258 ⟹ XP_047278214 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047422259 ⟹ XP_047278215 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047422260 ⟹ XP_047278216 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047422261 ⟹ XP_047278217 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047422262 ⟹ XP_047278218 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054361247 ⟹ XP_054217222 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054361248 ⟹ XP_054217223 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054361249 ⟹ XP_054217224 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054361250 ⟹ XP_054217225 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054361251 ⟹ XP_054217226 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054361252 ⟹ XP_054217227 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054361253 ⟹ XP_054217228 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054361254 ⟹ XP_054217229 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054361255 ⟹ XP_054217230 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054361256 ⟹ XP_054217231 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054361257 ⟹ XP_054217232 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054361258 ⟹ XP_054217233 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054361259 ⟹ XP_054217234 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054361260 ⟹ XP_054217235 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054361261 ⟹ XP_054217236 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054361262 ⟹ XP_054217237 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054361263 ⟹ XP_054217238 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054361264 ⟹ XP_054217239 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054361265 ⟹ XP_054217240 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054361266 ⟹ XP_054217241 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054361267 ⟹ XP_054217242 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054361268 ⟹ XP_054217243 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054361269 ⟹ XP_054217244 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054361270 ⟹ XP_054217245 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054361271 ⟹ XP_054217246 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054361272 ⟹ XP_054217247 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054361273 ⟹ XP_054217248 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054361274 ⟹ XP_054217249 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054361275 ⟹ XP_054217250 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054361276 ⟹ XP_054217251 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Protein RefSeqs | NP_001278268 | (Get FASTA) | NCBI Sequence Viewer |
NP_001350060 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001350061 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001350062 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001351798 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001351799 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001369320 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001425259 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001425260 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001425261 | (Get FASTA) | NCBI Sequence Viewer | |
NP_079066 | (Get FASTA) | NCBI Sequence Viewer | |
XP_005251362 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006716537 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006716540 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011515900 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011515901 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011515903 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011515913 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016869336 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016869338 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016869343 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047278200 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047278201 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047278202 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047278203 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047278205 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047278206 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047278207 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047278208 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047278209 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047278210 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047278211 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047278212 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047278213 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047278214 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047278215 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047278216 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047278217 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047278218 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054217222 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054217223 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054217224 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054217225 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054217226 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054217227 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054217228 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054217229 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054217230 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054217231 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054217232 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054217233 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054217234 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054217235 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054217236 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054217237 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054217238 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054217239 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054217240 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054217241 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054217242 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054217243 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054217244 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054217245 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054217246 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054217247 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054217248 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054217249 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054217250 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054217251 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH22867 | (Get FASTA) | NCBI Sequence Viewer |
BAB15375 | (Get FASTA) | NCBI Sequence Viewer | |
CAE47426 | (Get FASTA) | NCBI Sequence Viewer | |
CAJ42307 | (Get FASTA) | NCBI Sequence Viewer | |
EAW86932 | (Get FASTA) | NCBI Sequence Viewer | |
EAW86933 | (Get FASTA) | NCBI Sequence Viewer | |
EAW86934 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000262210 | ||
ENSP00000430092 | |||
ENSP00000430092.1 | |||
ENSP00000501676 | |||
ENSP00000502047 | |||
ENSP00000502047.1 | |||
ENSP00000502421 | |||
ENSP00000502454 | |||
ENSP00000502454.1 | |||
ENSP00000502747 | |||
ENSP00000503297 | |||
ENSP00000503690 | |||
ENSP00000503711 | |||
ENSP00000503878 | |||
ENSP00000504342 | |||
ENSP00000504516 | |||
ENSP00000504522 | |||
ENSP00000504532 | |||
ENSP00000504733 | |||
GenBank Protein | Q1MSJ5 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_079066 ⟸ NM_024790 |
- Peptide Label: | isoform 1 |
- UniProtKB: | A0A7I2V372 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_005251362 ⟸ XM_005251305 |
- Peptide Label: | isoform X3 |
- UniProtKB: | Q70F00 (UniProtKB/Swiss-Prot), Q1MSJ5 (UniProtKB/Swiss-Prot), A6ND63 (UniProtKB/Swiss-Prot), Q8TBC1 (UniProtKB/Swiss-Prot), A0A7I2V372 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006716540 ⟸ XM_006716477 |
- Peptide Label: | isoform X21 |
- UniProtKB: | A0A7I2V3F0 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006716537 ⟸ XM_006716474 |
- Peptide Label: | isoform X9 |
- UniProtKB: | A0A7I2V372 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001278268 ⟸ NM_001291339 |
- Peptide Label: | isoform 2 |
- UniProtKB: | A0A7I2V5P5 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_011515900 ⟸ XM_011517598 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A7I2V372 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_011515901 ⟸ XM_011517599 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A7I2V4R5 (UniProtKB/TrEMBL), A0A7I2V372 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_011515903 ⟸ XM_011517601 |
- Peptide Label: | isoform X5 |
- UniProtKB: | A0A7I2V372 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_011515913 ⟸ XM_011517611 |
- Peptide Label: | isoform X28 |
- Sequence: |
RefSeq Acc Id: | XP_016869336 ⟸ XM_017013847 |
- Peptide Label: | isoform X6 |
- UniProtKB: | A0A7I2V372 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_016869343 ⟸ XM_017013854 |
- Peptide Label: | isoform X22 |
- UniProtKB: | A0A7I2YQH9 (UniProtKB/TrEMBL), A0A7I2V3F0 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_016869338 ⟸ XM_017013849 |
- Peptide Label: | isoform X10 |
- UniProtKB: | A0A7I2V372 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001350061 ⟸ NM_001363132 |
- Peptide Label: | isoform 4 |
- UniProtKB: | A0A6Q8PHN8 (UniProtKB/TrEMBL), A0A6Q8PF61 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | NP_001350060 ⟸ NM_001363131 |
- Peptide Label: | isoform 3 |
- UniProtKB: | A0A6Q8PF96 (UniProtKB/TrEMBL), A0A7I2V4L2 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | NP_001350062 ⟸ NM_001363133 |
- Peptide Label: | isoform 5 |
- UniProtKB: | A0A6Q8PGS3 (UniProtKB/TrEMBL), A0A7I2V3M9 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | NP_001351798 ⟸ NM_001364869 |
- Peptide Label: | isoform 6 |
- UniProtKB: | A0A7I2PHE7 (UniProtKB/TrEMBL), A0A7I2V372 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | NP_001351799 ⟸ NM_001364870 |
- Peptide Label: | isoform 7 |
- UniProtKB: | A0A7I2V5L8 (UniProtKB/TrEMBL), A0A7I2V372 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | NP_001369320 ⟸ NM_001382391 |
- Peptide Label: | isoform 8 |
- UniProtKB: | A0A7I2V5W3 (UniProtKB/TrEMBL), A0A6Q8PF61 (UniProtKB/TrEMBL) |
Ensembl Acc Id: | ENSP00000428694 ⟸ ENST00000519163 |
Ensembl Acc Id: | ENSP00000430092 ⟸ ENST00000519668 |
Ensembl Acc Id: | ENSP00000428793 ⟸ ENST00000519701 |
Ensembl Acc Id: | ENSP00000429546 ⟸ ENST00000521919 |
Ensembl Acc Id: | ENSP00000262210 ⟸ ENST00000262210 |
Ensembl Acc Id: | ENSP00000502454 ⟸ ENST00000674993 |
Ensembl Acc Id: | ENSP00000501959 ⟸ ENST00000675820 |
Ensembl Acc Id: | ENSP00000501676 ⟸ ENST00000675955 |
Ensembl Acc Id: | ENSP00000502747 ⟸ ENST00000675869 |
Ensembl Acc Id: | ENSP00000502421 ⟸ ENST00000675306 |
Ensembl Acc Id: | ENSP00000501645 ⟸ ENST00000676113 |
Ensembl Acc Id: | ENSP00000502047 ⟸ ENST00000676317 |
Ensembl Acc Id: | ENSP00000504024 ⟸ ENST00000676968 |
Ensembl Acc Id: | ENSP00000504342 ⟸ ENST00000676882 |
Ensembl Acc Id: | ENSP00000503336 ⟸ ENST00000676847 |
Ensembl Acc Id: | ENSP00000502925 ⟸ ENST00000676858 |
Ensembl Acc Id: | ENSP00000504464 ⟸ ENST00000676804 |
Ensembl Acc Id: | ENSP00000503605 ⟸ ENST00000676605 |
Ensembl Acc Id: | ENSP00000503292 ⟸ ENST00000676695 |
Ensembl Acc Id: | ENSP00000503427 ⟸ ENST00000676567 |
Ensembl Acc Id: | ENSP00000504532 ⟸ ENST00000676573 |
Ensembl Acc Id: | ENSP00000503711 ⟸ ENST00000676471 |
Ensembl Acc Id: | ENSP00000503937 ⟸ ENST00000677131 |
Ensembl Acc Id: | ENSP00000503014 ⟸ ENST00000677070 |
Ensembl Acc Id: | ENSP00000503297 ⟸ ENST00000677009 |
Ensembl Acc Id: | ENSP00000504516 ⟸ ENST00000677592 |
Ensembl Acc Id: | ENSP00000503534 ⟸ ENST00000677473 |
Ensembl Acc Id: | ENSP00000504177 ⟸ ENST00000677430 |
Ensembl Acc Id: | ENSP00000504102 ⟸ ENST00000677256 |
Ensembl Acc Id: | ENSP00000504322 ⟸ ENST00000677964 |
Ensembl Acc Id: | ENSP00000504757 ⟸ ENST00000677855 |
Ensembl Acc Id: | ENSP00000503524 ⟸ ENST00000677845 |
Ensembl Acc Id: | ENSP00000504345 ⟸ ENST00000677836 |
Ensembl Acc Id: | ENSP00000504522 ⟸ ENST00000677619 |
Ensembl Acc Id: | ENSP00000504394 ⟸ ENST00000678017 |
Ensembl Acc Id: | ENSP00000503879 ⟸ ENST00000678444 |
Ensembl Acc Id: | ENSP00000503668 ⟸ ENST00000678345 |
Ensembl Acc Id: | ENSP00000504317 ⟸ ENST00000678362 |
Ensembl Acc Id: | ENSP00000503690 ⟸ ENST00000678318 |
Ensembl Acc Id: | ENSP00000504782 ⟸ ENST00000678204 |
Ensembl Acc Id: | ENSP00000504461 ⟸ ENST00000678895 |
Ensembl Acc Id: | ENSP00000503153 ⟸ ENST00000678723 |
Ensembl Acc Id: | ENSP00000504830 ⟸ ENST00000678728 |
Ensembl Acc Id: | ENSP00000503495 ⟸ ENST00000678744 |
Ensembl Acc Id: | ENSP00000503390 ⟸ ENST00000678747 |
Ensembl Acc Id: | ENSP00000504733 ⟸ ENST00000678616 |
Ensembl Acc Id: | ENSP00000504031 ⟸ ENST00000678645 |
Ensembl Acc Id: | ENSP00000503878 ⟸ ENST00000678542 |
Ensembl Acc Id: | ENSP00000503747 ⟸ ENST00000678553 |
Ensembl Acc Id: | ENSP00000503601 ⟸ ENST00000679226 |
Ensembl Acc Id: | ENSP00000503739 ⟸ ENST00000679112 |
RefSeq Acc Id: | XP_047278209 ⟸ XM_047422253 |
- Peptide Label: | isoform X16 |
- UniProtKB: | A0A7I2V398 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047278201 ⟸ XM_047422245 |
- Peptide Label: | isoform X7 |
- UniProtKB: | A0A7I2V372 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047278213 ⟸ XM_047422257 |
- Peptide Label: | isoform X20 |
- UniProtKB: | A0A7I2V398 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047278210 ⟸ XM_047422254 |
- Peptide Label: | isoform X17 |
- UniProtKB: | A0A7I2V398 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047278200 ⟸ XM_047422244 |
- Peptide Label: | isoform X4 |
- UniProtKB: | A0A7I2V372 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047278205 ⟸ XM_047422249 |
- Peptide Label: | isoform X12 |
- UniProtKB: | A0A7I2V372 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047278202 ⟸ XM_047422246 |
- Peptide Label: | isoform X8 |
- UniProtKB: | A0A7I2V5N5 (UniProtKB/TrEMBL), A0A7I2V372 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047278216 ⟸ XM_047422260 |
- Peptide Label: | isoform X25 |
- UniProtKB: | A0A7I2V3F0 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047278212 ⟸ XM_047422256 |
- Peptide Label: | isoform X19 |
RefSeq Acc Id: | XP_047278208 ⟸ XM_047422252 |
- Peptide Label: | isoform X15 |
RefSeq Acc Id: | XP_047278211 ⟸ XM_047422255 |
- Peptide Label: | isoform X18 |
- UniProtKB: | A0A7I2V3Z9 (UniProtKB/TrEMBL), A0A7I2V372 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047278215 ⟸ XM_047422259 |
- Peptide Label: | isoform X24 |
- UniProtKB: | A0A7I2V5G7 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047278217 ⟸ XM_047422261 |
- Peptide Label: | isoform X26 |
RefSeq Acc Id: | XP_047278206 ⟸ XM_047422250 |
- Peptide Label: | isoform X13 |
- UniProtKB: | A0A7I2V398 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047278203 ⟸ XM_047422247 |
- Peptide Label: | isoform X11 |
- UniProtKB: | A0A7I2V398 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047278214 ⟸ XM_047422258 |
- Peptide Label: | isoform X23 |
- UniProtKB: | A0A7I2V398 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047278207 ⟸ XM_047422251 |
- Peptide Label: | isoform X14 |
- UniProtKB: | A0A6Q8PF61 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047278218 ⟸ XM_047422262 |
- Peptide Label: | isoform X27 |
- UniProtKB: | A0A7I2V5P5 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054217229 ⟸ XM_054361254 |
- Peptide Label: | isoform X32 |
- UniProtKB: | A0A7I2V372 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054217242 ⟸ XM_054361267 |
- Peptide Label: | isoform X35 |
- UniProtKB: | A0A7I2V398 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054217238 ⟸ XM_054361263 |
- Peptide Label: | isoform X34 |
- UniProtKB: | A0A7I2V372 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054217225 ⟸ XM_054361250 |
- Peptide Label: | isoform X30 |
- UniProtKB: | A0A7I2V372 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054217235 ⟸ XM_054361260 |
- Peptide Label: | isoform X33 |
- UniProtKB: | A0A7I2V372 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054217222 ⟸ XM_054361247 |
- Peptide Label: | isoform X29 |
- UniProtKB: | A0A7I2V372 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054217227 ⟸ XM_054361252 |
- Peptide Label: | isoform X31 |
- UniProtKB: | A0A7I2V372 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054217239 ⟸ XM_054361264 |
- Peptide Label: | isoform X16 |
- UniProtKB: | A0A7I2V398 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054217230 ⟸ XM_054361255 |
- Peptide Label: | isoform X7 |
- UniProtKB: | A0A7I2V372 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054217243 ⟸ XM_054361268 |
- Peptide Label: | isoform X20 |
- UniProtKB: | A0A7I2V398 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054217224 ⟸ XM_054361249 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A7I2V372 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054217240 ⟸ XM_054361265 |
- Peptide Label: | isoform X17 |
- UniProtKB: | A0A7I2V398 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054217232 ⟸ XM_054361257 |
- Peptide Label: | isoform X9 |
- UniProtKB: | A0A7I2V372 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054217226 ⟸ XM_054361251 |
- Peptide Label: | isoform X4 |
- UniProtKB: | A0A7I2V372 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054217228 ⟸ XM_054361253 |
- Peptide Label: | isoform X6 |
- UniProtKB: | A0A7I2V372 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054217244 ⟸ XM_054361269 |
- Peptide Label: | isoform X21 |
- UniProtKB: | A0A7I2V3F0 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054217223 ⟸ XM_054361248 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A7I2V372 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054217231 ⟸ XM_054361256 |
- Peptide Label: | isoform X8 |
- UniProtKB: | A0A7I2V372 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054217245 ⟸ XM_054361270 |
- Peptide Label: | isoform X22 |
- UniProtKB: | A0A7I2V3F0 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054217248 ⟸ XM_054361273 |
- Peptide Label: | isoform X25 |
- UniProtKB: | A0A7I2V3F0 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054217233 ⟸ XM_054361258 |
- Peptide Label: | isoform X10 |
- UniProtKB: | A0A7I2V372 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054217241 ⟸ XM_054361266 |
- Peptide Label: | isoform X18 |
- UniProtKB: | A0A7I2V372 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054217247 ⟸ XM_054361272 |
- Peptide Label: | isoform X24 |
- UniProtKB: | A0A7I2V5G7 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054217249 ⟸ XM_054361274 |
- Peptide Label: | isoform X26 |
RefSeq Acc Id: | XP_054217236 ⟸ XM_054361261 |
- Peptide Label: | isoform X13 |
- UniProtKB: | A0A7I2V398 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054217234 ⟸ XM_054361259 |
- Peptide Label: | isoform X11 |
- UniProtKB: | A0A7I2V398 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054217246 ⟸ XM_054361271 |
- Peptide Label: | isoform X23 |
- UniProtKB: | A0A7I2V398 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054217237 ⟸ XM_054361262 |
- Peptide Label: | isoform X14 |
- UniProtKB: | A0A6Q8PF61 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054217250 ⟸ XM_054361275 |
- Peptide Label: | isoform X27 |
- UniProtKB: | A0A7I2V5P5 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054217251 ⟸ XM_054361276 |
- Peptide Label: | isoform X28 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q1MSJ5-F1-model_v2 | AlphaFold | Q1MSJ5 | 1-1256 | view protein structure |
RGD ID: | 7213455 | ||||||||
Promoter ID: | EPDNEW_H12473 | ||||||||
Type: | initiation region | ||||||||
Name: | CSPP1_2 | ||||||||
Description: | centrosome and spindle pole associated protein 1 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H12474 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
|
RGD ID: | 7213457 | ||||||||
Promoter ID: | EPDNEW_H12474 | ||||||||
Type: | initiation region | ||||||||
Name: | CSPP1_1 | ||||||||
Description: | centrosome and spindle pole associated protein 1 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H12473 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 6806579 | ||||||||
Promoter ID: | HG_KWN:61437 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | ENST00000389042, NM_001077204, NM_024790, UC003XXG.1, UC003XXH.1 | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:26193 | AgrOrtholog |
COSMIC | CSPP1 | COSMIC |
Ensembl Genes | ENSG00000104218 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENST00000262210 | ENTREZGENE |
ENST00000519668 | ENTREZGENE | |
ENST00000519668.1 | UniProtKB/Swiss-Prot | |
ENST00000674993 | ENTREZGENE | |
ENST00000674993.1 | UniProtKB/Swiss-Prot | |
ENST00000675306 | ENTREZGENE | |
ENST00000675869 | ENTREZGENE | |
ENST00000675955 | ENTREZGENE | |
ENST00000676317 | ENTREZGENE | |
ENST00000676317.1 | UniProtKB/Swiss-Prot | |
ENST00000676471 | ENTREZGENE | |
ENST00000676573 | ENTREZGENE | |
ENST00000676882 | ENTREZGENE | |
ENST00000677009 | ENTREZGENE | |
ENST00000677592 | ENTREZGENE | |
ENST00000677619 | ENTREZGENE | |
ENST00000678318 | ENTREZGENE | |
ENST00000678542 | ENTREZGENE | |
ENST00000678616 | ENTREZGENE | |
GTEx | ENSG00000104218 | GTEx |
HGNC ID | HGNC:26193 | ENTREZGENE |
Human Proteome Map | CSPP1 | Human Proteome Map |
InterPro | CSPP1 | UniProtKB/Swiss-Prot |
KEGG Report | hsa:79848 | UniProtKB/Swiss-Prot |
NCBI Gene | 79848 | ENTREZGENE |
OMIM | 611654 | OMIM |
PANTHER | CENTROSOME AND SPINDLE POLE-ASSOCIATED PROTEIN 1 | UniProtKB/Swiss-Prot |
PTHR21616 | UniProtKB/Swiss-Prot | |
Pfam | CSPP1_C | UniProtKB/Swiss-Prot |
PharmGKB | PA142672066 | PharmGKB |
UniProt | A0A6Q8PF61 | ENTREZGENE, UniProtKB/TrEMBL |
A0A6Q8PF96 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A6Q8PGI0_HUMAN | UniProtKB/TrEMBL | |
A0A6Q8PGS3 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A6Q8PHN8 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A7I2PHE7 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A7I2V2I3_HUMAN | UniProtKB/TrEMBL | |
A0A7I2V2P7_HUMAN | UniProtKB/TrEMBL | |
A0A7I2V2X5_HUMAN | UniProtKB/TrEMBL | |
A0A7I2V372 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A7I2V398 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A7I2V3F0 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A7I2V3F6_HUMAN | UniProtKB/TrEMBL | |
A0A7I2V3G6_HUMAN | UniProtKB/TrEMBL | |
A0A7I2V3M9 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A7I2V3Q0_HUMAN | UniProtKB/TrEMBL | |
A0A7I2V3V5_HUMAN | UniProtKB/TrEMBL | |
A0A7I2V3W2_HUMAN | UniProtKB/TrEMBL | |
A0A7I2V3Z9 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A7I2V425_HUMAN | UniProtKB/TrEMBL | |
A0A7I2V450_HUMAN | UniProtKB/TrEMBL | |
A0A7I2V4C3_HUMAN | UniProtKB/TrEMBL | |
A0A7I2V4I1_HUMAN | UniProtKB/TrEMBL | |
A0A7I2V4L2 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A7I2V4M7_HUMAN | UniProtKB/TrEMBL | |
A0A7I2V4R5 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A7I2V4U4_HUMAN | UniProtKB/TrEMBL | |
A0A7I2V519_HUMAN | UniProtKB/TrEMBL | |
A0A7I2V571_HUMAN | UniProtKB/TrEMBL | |
A0A7I2V5A7_HUMAN | UniProtKB/TrEMBL | |
A0A7I2V5F2_HUMAN | UniProtKB/TrEMBL | |
A0A7I2V5G7 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A7I2V5J7_HUMAN | UniProtKB/TrEMBL | |
A0A7I2V5J9 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A7I2V5L8 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A7I2V5N5 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A7I2V5P5 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A7I2V5U6_HUMAN | UniProtKB/TrEMBL | |
A0A7I2V5W3 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A7I2V5Y8_HUMAN | UniProtKB/TrEMBL | |
A0A7I2V6B7_HUMAN | UniProtKB/TrEMBL | |
A0A7I2YQE8_HUMAN | UniProtKB/TrEMBL | |
A0A7I2YQH9 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A7I2YQX1_HUMAN | UniProtKB/TrEMBL | |
A6ND63 | ENTREZGENE | |
CSPP1_HUMAN | UniProtKB/Swiss-Prot | |
E5RGA5_HUMAN | UniProtKB/TrEMBL | |
E5RI67_HUMAN | UniProtKB/TrEMBL | |
F2Z2M5_HUMAN | UniProtKB/TrEMBL | |
Q1MSJ5 | ENTREZGENE | |
Q70F00 | ENTREZGENE | |
Q8TBC1 | ENTREZGENE | |
Q9H688_HUMAN | UniProtKB/TrEMBL | |
UniProt Secondary | A6ND63 | UniProtKB/Swiss-Prot |
Q70F00 | UniProtKB/Swiss-Prot | |
Q8TBC1 | UniProtKB/Swiss-Prot |