Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES | | IAGP | | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES | | IAGP | | 7240710 | | OMIM | | |
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# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
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 |
PMID:8889548 | PMID:8917509 | PMID:10212200 | PMID:10393931 | PMID:10716990 | PMID:11013081 | PMID:12571360 | PMID:12606707 | PMID:14702039 | PMID:14973189 | PMID:15644318 | PMID:16417406 |
PMID:16467138 | PMID:16866877 | PMID:17079330 | PMID:17081983 | PMID:17227842 | PMID:17360629 | PMID:18003980 | PMID:18029348 | PMID:18203920 | PMID:18292223 | PMID:18417613 | PMID:18832381 |
PMID:19020088 | PMID:19332778 | PMID:19651892 | PMID:20360857 | PMID:20379614 | PMID:20668708 | PMID:20818722 | PMID:21871176 | PMID:21873635 | PMID:22084092 | PMID:22190034 | PMID:23220274 |
PMID:23386609 | PMID:23572552 | PMID:23918382 | PMID:23956138 | PMID:25060954 | PMID:25921289 | PMID:26186194 | PMID:26831064 | PMID:27162341 | PMID:27373159 | PMID:27834853 | PMID:28514442 |
PMID:29507755 | PMID:29568061 | PMID:30021884 | PMID:30639242 | PMID:31073040 | PMID:31091453 | PMID:31199673 | PMID:31240132 | PMID:31594818 | PMID:31932471 | PMID:32393512 | PMID:32415087 |
PMID:32513696 | PMID:32687490 | PMID:33637726 | PMID:33845483 | PMID:33961781 | PMID:34079125 | PMID:34113008 | PMID:34432599 | PMID:35048795 | PMID:35271311 | PMID:35696571 | PMID:35831314 |
PMID:35844135 | PMID:35973513 | PMID:36180527 | PMID:36215168 | PMID:37232246 | PMID:37827155 |
ARFGEF1 (Homo sapiens - human) |
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Arfgef1 (Mus musculus - house mouse) |
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Arfgef1 (Rattus norvegicus - Norway rat) |
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Arfgef1 (Chinchilla lanigera - long-tailed chinchilla) |
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ARFGEF1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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ARFGEF1 (Canis lupus familiaris - dog) |
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Arfgef1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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ARFGEF1 (Sus scrofa - pig) |
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ARFGEF1 (Chlorocebus sabaeus - green monkey) |
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Arfgef1 (Heterocephalus glaber - naked mole-rat) |
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Variants in ARFGEF1
303 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_006421.5(ARFGEF1):c.2392G>A (p.Asp798Asn) | single nucleotide variant | Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV002276680]|Global developmental delay [RCV001290721] | Chr8:67258134 [GRCh38] Chr8:68170369 [GRCh37] Chr8:8q13.2 |
pathogenic |
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 |
NM_001382391.1(CSPP1):c.3156+6C>T | single nucleotide variant | Inborn genetic diseases [RCV002564113]|Joubert syndrome 21 [RCV001246867] | Chr8:67177732 [GRCh38] Chr8:68089967 [GRCh37] Chr8:8q13.2 |
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(chr8:244417-145054775)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 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 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.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_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.3292C>T (p.Arg1098Trp) | single nucleotide variant | Joubert syndrome 21 [RCV001332557] | Chr8:67190721 [GRCh38] Chr8:68102956 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_006421.5(ARFGEF1):c.5320C>T (p.Arg1774Ter) | single nucleotide variant | Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV002276681]|Global developmental delay [RCV001290722]|Global developmental delay [RCV001780236]|not provided [RCV003225175] | Chr8:67200461 [GRCh38] Chr8:68112696 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_006421.5(ARFGEF1):c.2158del (p.Leu720fs) | deletion | Global developmental delay [RCV001290724] | Chr8:67259892 [GRCh38] Chr8:68172127 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_006421.5(ARFGEF1):c.4033C>T (p.Arg1345Ter) | single nucleotide variant | Global developmental delay [RCV001290730] | Chr8:67226067 [GRCh38] Chr8:68138302 [GRCh37] Chr8:8q13.2 |
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.3425G>A (p.Arg1142Gln) | single nucleotide variant | Inborn genetic diseases [RCV003191805] | Chr8:67193558 [GRCh38] Chr8:68105793 [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_006421.5(ARFGEF1):c.2699-1G>T | single nucleotide variant | Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV003314386] | Chr8:67251451 [GRCh38] Chr8:68163686 [GRCh37] Chr8:8q13.2 |
likely pathogenic |
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.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.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.3570_3572dup (p.Ser1191dup) | duplication | not provided [RCV000723134] | Chr8:67195480..67195481 [GRCh38] Chr8:68107715..68107716 [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 condition [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.3220+13A>G | single nucleotide variant | Joubert syndrome 21 [RCV001512555]|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 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 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 |
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.3493C>T (p.Pro1165Ser) | single nucleotide variant | CSPP1-related condition [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.3285C>T (p.Pro1095=) | single nucleotide variant | CSPP1-related condition [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.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.*6A>G | single nucleotide variant | 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_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_006421.5(ARFGEF1):c.4574A>G (p.Asn1525Ser) | single nucleotide variant | Inborn genetic diseases [RCV003289870] | Chr8:67217821 [GRCh38] Chr8:68130056 [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.3110-11A>G | single nucleotide variant | Joubert syndrome 21 [RCV001512201]|not specified [RCV000612679] | Chr8:67177669 [GRCh38] Chr8:68089904 [GRCh37] Chr8:8q13.2 |
benign |
NM_001382391.1(CSPP1):c.3296A>G (p.Glu1099Gly) | single nucleotide variant | CSPP1-related condition [RCV003935669]|Global developmental delay [RCV000735303]|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_006421.5(ARFGEF1):c.4667C>T (p.Pro1556Leu) | single nucleotide variant | Inborn genetic diseases [RCV003277845] | Chr8:67216609 [GRCh38] Chr8:68128844 [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 |
GRCh37/hg19 8q13.2(chr8:68038759-68245969)x3 | copy number gain | not provided [RCV000682943] | Chr8:68038759..68245969 [GRCh37] Chr8:8q13.2 |
uncertain significance |
GRCh37/hg19 8q13.2(chr8:68174995-68230922)x1 | copy number loss | not provided [RCV000682914] | Chr8:68174995..68230922 [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 |
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.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.3109+39C>T | single nucleotide variant | not provided [RCV001571276] | Chr8:67175475 [GRCh38] Chr8:68087710 [GRCh37] Chr8:8q13.2 |
likely benign |
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 |
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 8q13.2(chr8:68137315-68161638)x1 | copy number loss | not provided [RCV000747627] | Chr8:68137315..68161638 [GRCh37] Chr8:8q13.2 |
benign |
GRCh37/hg19 8q13.2(chr8:68158038-68161638)x1 | copy number loss | not provided [RCV000747628] | Chr8:68158038..68161638 [GRCh37] Chr8:8q13.2 |
benign |
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 |
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 |
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.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.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.3221-272A>G | single nucleotide variant | not provided [RCV001709308] | Chr8:67190378 [GRCh38] Chr8:68102613 [GRCh37] Chr8:8q13.2 |
benign |
NM_001382391.1(CSPP1):c.3578C>T (p.Thr1193Met) | single nucleotide variant | CSPP1-related condition [RCV003903159]|Joubert syndrome 21 [RCV000946259] | Chr8:67195490 [GRCh38] Chr8:68107725 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_006421.5(ARFGEF1):c.4968G>A (p.Ala1656=) | single nucleotide variant | not provided [RCV000967090] | Chr8:67203243 [GRCh38] Chr8:68115478 [GRCh37] Chr8:8q13.2 |
benign |
NM_006421.5(ARFGEF1):c.4131G>A (p.Val1377=) | single nucleotide variant | not provided [RCV000967091] | Chr8:67224980 [GRCh38] Chr8:68137215 [GRCh37] Chr8:8q13.2 |
benign |
NM_001382391.1(CSPP1):c.3655C>G (p.Gln1219Glu) | single nucleotide variant | Joubert syndrome 21 [RCV001062425] | Chr8:67195567 [GRCh38] Chr8:68107802 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_001382391.1(CSPP1):c.3275C>T (p.Ser1092Leu) | single nucleotide variant | Joubert syndrome 21 [RCV001042057] | Chr8:67190704 [GRCh38] Chr8:68102939 [GRCh37] Chr8:8q13.2 |
uncertain significance |
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.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.3675T>C (p.His1225=) | single nucleotide variant | not provided [RCV000945946] | Chr8:67195587 [GRCh38] Chr8:68107822 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_006421.5(ARFGEF1):c.330G>A (p.Gly110=) | single nucleotide variant | not provided [RCV000972592] | Chr8:67299338 [GRCh38] Chr8:68211573 [GRCh37] Chr8:8q13.2 |
benign|likely benign |
NM_006421.5(ARFGEF1):c.796G>T (p.Asp266Tyr) | single nucleotide variant | not provided [RCV000955187] | Chr8:67291967 [GRCh38] Chr8:68204202 [GRCh37] Chr8:8q13.2 |
likely benign |
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.3470-187C>G | single nucleotide variant | not provided [RCV000832148] | Chr8:67195195 [GRCh38] Chr8:68107430 [GRCh37] Chr8:8q13.2 |
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 |
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.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.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_006421.5(ARFGEF1):c.2650A>G (p.Met884Val) | single nucleotide variant | ARFGEF1-related condition [RCV003396488]|Inborn genetic diseases [RCV003243354]|not provided [RCV000850381] | Chr8:67253499 [GRCh38] Chr8:68165734 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_006421.5(ARFGEF1):c.4586A>C (p.Asp1529Ala) | single nucleotide variant | Inborn genetic diseases [RCV003290214] | Chr8:67217809 [GRCh38] Chr8:68130044 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_006421.5(ARFGEF1):c.2482G>A (p.Ala828Thr) | single nucleotide variant | not provided [RCV003313617] | Chr8:67257776 [GRCh38] Chr8:68170011 [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.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.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.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.3425G>C (p.Arg1142Pro) | single nucleotide variant | Inborn genetic diseases [RCV003262714] | Chr8:67193558 [GRCh38] Chr8:68105793 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_006421.5(ARFGEF1):c.207A>G (p.Lys69=) | single nucleotide variant | not provided [RCV000931757] | Chr8:67301329 [GRCh38] Chr8:68213564 [GRCh37] Chr8:8q13.2 |
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.3331-2A>G | single nucleotide variant | Joubert syndrome 21 [RCV001231245] | Chr8:67193462 [GRCh38] Chr8:68105697 [GRCh37] Chr8:8q13.2 |
likely pathogenic |
NM_006421.5(ARFGEF1):c.294A>C (p.Thr98=) | single nucleotide variant | not provided [RCV000956639] | Chr8:67301242 [GRCh38] Chr8:68213477 [GRCh37] Chr8:8q13.2 |
benign |
NM_006421.5(ARFGEF1):c.2784C>T (p.Ala928=) | single nucleotide variant | not provided [RCV000956637] | Chr8:67251365 [GRCh38] Chr8:68163600 [GRCh37] Chr8:8q13.2 |
benign |
NM_006421.5(ARFGEF1):c.1572+4C>T | single nucleotide variant | not provided [RCV000956638] | Chr8:67271698 [GRCh38] Chr8:68183933 [GRCh37] Chr8:8q13.2 |
benign |
NM_006421.5(ARFGEF1):c.4365C>T (p.Cys1455=) | single nucleotide variant | not provided [RCV000935026] | Chr8:67218112 [GRCh38] Chr8:68130347 [GRCh37] Chr8:8q13.2 |
benign |
NM_006421.5(ARFGEF1):c.3151A>T (p.Ile1051Phe) | single nucleotide variant | not provided [RCV003231995] | Chr8:67238481 [GRCh38] Chr8:68150716 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_006421.5(ARFGEF1):c.5340dup (p.Leu1781fs) | duplication | not provided [RCV003108260] | Chr8:67200440..67200441 [GRCh38] Chr8:68112675..68112676 [GRCh37] Chr8:8q13.2 |
uncertain significance |
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.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_006421.5(ARFGEF1):c.4257T>G (p.Tyr1419Ter) | single nucleotide variant | Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV002467423] | Chr8:67219512 [GRCh38] Chr8:68131747 [GRCh37] Chr8:8q13.2 |
likely pathogenic |
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.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_006421.5(ARFGEF1):c.4687-10del | deletion | not provided [RCV001707336] | Chr8:67211625 [GRCh38] Chr8:68123860 [GRCh37] Chr8:8q13.2 |
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.3220+110dup | duplication | not provided [RCV001690292] | Chr8:67180023..67180024 [GRCh38] Chr8:68092258..68092259 [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.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 |
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.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.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 |
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_006421.5(ARFGEF1):c.4207A>G (p.Arg1403Gly) | single nucleotide variant | not provided [RCV002280524] | Chr8:67224904 [GRCh38] Chr8:68137139 [GRCh37] Chr8:8q13.2 |
uncertain significance |
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_006421.5(ARFGEF1):c.3592-2A>G | single nucleotide variant | Global developmental delay [RCV001290723] | Chr8:67227600 [GRCh38] Chr8:68139835 [GRCh37] Chr8:8q13.2 |
pathogenic |
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.3361G>A (p.Gly1121Ser) | single nucleotide variant | Joubert syndrome 21 [RCV001305709] | Chr8:67193494 [GRCh38] Chr8:68105729 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_006421.5(ARFGEF1):c.2524C>T (p.Gln842Ter) | single nucleotide variant | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, BEHAVIORAL ABNORMALITIES, AND SEIZURES [RCV002276679]|Seizure [RCV001290121] | Chr8:67257734 [GRCh38] Chr8:68169969 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_001382391.1(CSPP1):c.3040C>A (p.Gln1014Lys) | single nucleotide variant | Joubert syndrome 21 [RCV001340212] | Chr8:67175367 [GRCh38] Chr8:68087602 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_006421.5(ARFGEF1):c.2923_2924dup (p.Cys976fs) | microsatellite | Global developmental delay [RCV001290725] | Chr8:67240216..67240217 [GRCh38] Chr8:68152451..68152452 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_006421.5(ARFGEF1):c.1006del (p.Met336fs) | deletion | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, BEHAVIORAL ABNORMALITIES, AND SEIZURES [RCV002276682]|Global developmental delay [RCV001290727] | Chr8:67287976 [GRCh38] Chr8:68200211 [GRCh37] Chr8:8q13.2 |
pathogenic |
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.*3_*6dup (p.Ter1227=) | duplication | Joubert syndrome 21 [RCV001324825] | Chr8:67195592..67195593 [GRCh38] Chr8:68107827..68107828 [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_006421.5(ARFGEF1):c.2395C>T (p.Arg799Ter) | single nucleotide variant | Global developmental delay [RCV001290726] | Chr8:67258131 [GRCh38] Chr8:68170366 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_006421.5(ARFGEF1):c.3697C>T (p.Gln1233Ter) | single nucleotide variant | Global developmental delay [RCV001290729] | Chr8:67227493 [GRCh38] Chr8:68139728 [GRCh37] Chr8:8q13.2 |
pathogenic |
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.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.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_006421.5(ARFGEF1):c.1942C>T (p.Gln648Ter) | single nucleotide variant | Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV002276683]|Global developmental delay [RCV001290728] | Chr8:67266187 [GRCh38] Chr8:68178422 [GRCh37] Chr8:8q13.2 |
pathogenic |
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.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.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.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.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.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.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.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.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.3330+237C>T | single nucleotide variant | not provided [RCV001717242] | Chr8:67190996 [GRCh38] Chr8:68103231 [GRCh37] Chr8:8q13.2 |
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.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.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.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.3258C>T (p.Asp1086=) | single nucleotide variant | CSPP1-related condition [RCV003938755]|Joubert syndrome 21 [RCV001434970] | Chr8:67190687 [GRCh38] Chr8:68102922 [GRCh37] Chr8:8q13.2 |
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.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.3232G>C (p.Glu1078Gln) | single nucleotide variant | Joubert syndrome 21 [RCV003108844] | Chr8:67190661 [GRCh38] Chr8:68102896 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_006421.5(ARFGEF1):c.5194C>T (p.Arg1732Cys) | single nucleotide variant | Neurodevelopmental disorder [RCV002273326] | Chr8:67201540 [GRCh38] Chr8:68113775 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_006421.5(ARFGEF1):c.3736C>T (p.Arg1246Trp) | single nucleotide variant | ARFGEF1-RELATED DISORDER [RCV001733814] | Chr8:67227454 [GRCh38] Chr8:68139689 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_006421.5(ARFGEF1):c.1028-2A>T | single nucleotide variant | Focal-onset seizure [RCV001785398] | Chr8:67277459 [GRCh38] Chr8:68189694 [GRCh37] Chr8:8q13.2 |
likely pathogenic |
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.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.3620A>G (p.Gln1207Arg) | single nucleotide variant | Joubert syndrome 21 [RCV002008355] | Chr8:67195532 [GRCh38] Chr8:68107767 [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.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.3518G>C (p.Gly1173Ala) | single nucleotide variant | Joubert syndrome 21 [RCV001965287] | Chr8:67195430 [GRCh38] Chr8:68107665 [GRCh37] Chr8:8q13.2 |
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.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.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.3221-9T>A | single nucleotide variant | Joubert syndrome 21 [RCV001985675] | Chr8:67190641 [GRCh38] Chr8:68102876 [GRCh37] Chr8:8q13.2 |
likely benign|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.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.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.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.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.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.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.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.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 |
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.3430C>T (p.Arg1144Ter) | single nucleotide variant | Joubert syndrome 21 [RCV001952197] | Chr8:67193563 [GRCh38] Chr8:68105798 [GRCh37] Chr8:8q13.2 |
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.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.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.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.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.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.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.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.3139G>C (p.Val1047Leu) | single nucleotide variant | Joubert syndrome 21 [RCV001938335] | Chr8:67177709 [GRCh38] Chr8:68089944 [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.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.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.3364C>T (p.Leu1122Phe) | single nucleotide variant | Joubert syndrome 21 [RCV001992618] | Chr8:67193497 [GRCh38] Chr8:68105732 [GRCh37] Chr8:8q13.2 |
uncertain significance |
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.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.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.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.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.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.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.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.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.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.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.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.3157-19del | deletion | Joubert syndrome 21 [RCV002159185] | Chr8:67179843 [GRCh38] Chr8:68092078 [GRCh37] Chr8:8q13.2 |
likely benign |
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 |
NC_000008.10:g.(?_67976634)_(68658364_?)del | deletion | Joubert syndrome 21 [RCV003122721] | Chr8:67976634..68658364 [GRCh37] Chr8:8q13.1-13.2 |
pathogenic |
NM_006421.5(ARFGEF1):c.623G>T (p.Arg208Leu) | single nucleotide variant | See cases [RCV003128499] | Chr8:67296447 [GRCh38] Chr8:68208682 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_006421.5(ARFGEF1):c.5128+1G>A | single nucleotide variant | Delayed ability to walk [RCV002256955] | Chr8:67203082 [GRCh38] Chr8:68115317 [GRCh37] Chr8:8q13.2 |
likely pathogenic |
NM_006421.5(ARFGEF1):c.209C>G (p.Ser70Ter) | single nucleotide variant | Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV003233373] | Chr8:67301327 [GRCh38] Chr8:68213562 [GRCh37] Chr8:8q13.2 |
likely pathogenic |
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.3470-2A>G | single nucleotide variant | not provided [RCV002261479] | Chr8:67195380 [GRCh38] Chr8:68107615 [GRCh37] Chr8:8q13.2 |
not provided |
NM_006421.5(ARFGEF1):c.4146G>A (p.Trp1382Ter) | single nucleotide variant | Neurodevelopmental delay [RCV002274310] | Chr8:67224965 [GRCh38] Chr8:68137200 [GRCh37] Chr8:8q13.2 |
likely pathogenic |
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_006421.5(ARFGEF1):c.4345G>T (p.Glu1449Ter) | single nucleotide variant | Neurodevelopmental delay [RCV002274311] | Chr8:67218132 [GRCh38] Chr8:68130367 [GRCh37] Chr8:8q13.2 |
likely pathogenic |
NM_006421.5(ARFGEF1):c.5084del (p.Ala1695fs) | deletion | Neurodevelopmental delay [RCV002274312] | Chr8:67203127 [GRCh38] Chr8:68115362 [GRCh37] Chr8:8q13.2 |
likely pathogenic |
NM_006421.5(ARFGEF1):c.640-2A>C | single nucleotide variant | not provided [RCV002273612] | Chr8:67292125 [GRCh38] Chr8:68204360 [GRCh37] Chr8:8q13.2 |
uncertain significance |
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_006421.5(ARFGEF1):c.1807G>C (p.Val603Leu) | single nucleotide variant | not provided [RCV002273542] | Chr8:67267096 [GRCh38] Chr8:68179331 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_006421.5(ARFGEF1):c.4614-2A>G | single nucleotide variant | Neurodevelopmental delay [RCV002274309] | Chr8:67216664 [GRCh38] Chr8:68128899 [GRCh37] Chr8:8q13.2 |
likely pathogenic |
NM_006421.5(ARFGEF1):c.901_902delinsAA (p.Ala301Lys) | indel | not provided [RCV002269521] | Chr8:67291861..67291862 [GRCh38] Chr8:68204096..68204097 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_006421.5(ARFGEF1):c.4365C>A (p.Cys1455Ter) AND DEVELOPMENTAL DELAY, IMPAIRED SPEECH, BEHAVIORAL ABNORMALITIES, | single nucleotide variant | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, BEHAVIORAL ABNORMALITIES, AND SEIZURES [RCV002277101] | Chr8:67218112 [GRCh38] Chr8:68130347 [GRCh37] Chr8:8q13.2 |
pathogenic |
NC_000008.10:g.(?_68109883)_(68255913_?)del | deletion | Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV003236557] | Chr8:68109883..68255913 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_006421.5(ARFGEF1):c.3232G>T (p.Gly1078Ter) | single nucleotide variant | Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV002286490] | Chr8:67238400 [GRCh38] Chr8:68150635 [GRCh37] Chr8:8q13.2 |
likely pathogenic |
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_006421.5(ARFGEF1):c.1338-20_1338-18dup | duplication | not specified [RCV002470076] | Chr8:67271953..67271954 [GRCh38] Chr8:68184188..68184189 [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_006421.5(ARFGEF1):c.3421+1G>T | single nucleotide variant | not provided [RCV002469575] | Chr8:67228223 [GRCh38] Chr8:68140458 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_006421.5(ARFGEF1):c.1641G>A (p.Met547Ile) | single nucleotide variant | Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV002468951] | Chr8:67267374 [GRCh38] Chr8:68179609 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_006421.5(ARFGEF1):c.2038A>T (p.Ser680Cys) | single nucleotide variant | Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV002468666] | Chr8:67266091 [GRCh38] Chr8:68178326 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_006421.5(ARFGEF1):c.4244_4245del (p.Tyr1415fs) | microsatellite | not provided [RCV002306140] | Chr8:67219524..67219525 [GRCh38] Chr8:68131759..68131760 [GRCh37] Chr8:8q13.2 |
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.3170C>A (p.Thr1057Asn) | single nucleotide variant | Joubert syndrome 21 [RCV002904141] | Chr8:67179876 [GRCh38] Chr8:68092111 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_006421.5(ARFGEF1):c.1148C>A (p.Ala383Glu) | single nucleotide variant | Inborn genetic diseases [RCV002860100] | Chr8:67277337 [GRCh38] Chr8:68189572 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_006421.5(ARFGEF1):c.4726A>G (p.Ile1576Val) | single nucleotide variant | Inborn genetic diseases [RCV002773061] | Chr8:67211576 [GRCh38] Chr8:68123811 [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_006421.5(ARFGEF1):c.5101G>A (p.Glu1701Lys) | single nucleotide variant | Inborn genetic diseases [RCV002818192] | Chr8:67203110 [GRCh38] Chr8:68115345 [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.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.3563C>T (p.Pro1188Leu) | single nucleotide variant | Joubert syndrome 21 [RCV003075442] | Chr8:67195475 [GRCh38] Chr8:68107710 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_006421.5(ARFGEF1):c.4526T>C (p.Ile1509Thr) | single nucleotide variant | not provided [RCV002755209] | Chr8:67217869 [GRCh38] Chr8:68130104 [GRCh37] Chr8:8q13.2 |
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_006421.5(ARFGEF1):c.862A>G (p.Ile288Val) | single nucleotide variant | Inborn genetic diseases [RCV002707809] | Chr8:67291901 [GRCh38] Chr8:68204136 [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_006421.5(ARFGEF1):c.4760C>T (p.Ala1587Val) | single nucleotide variant | Inborn genetic diseases [RCV002910787] | Chr8:67211542 [GRCh38] Chr8:68123777 [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.3220+13_3220+16del | microsatellite | Joubert syndrome 21 [RCV003036325] | Chr8:67179934..67179937 [GRCh38] Chr8:68092169..68092172 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_006421.5(ARFGEF1):c.4898A>G (p.Asn1633Ser) | single nucleotide variant | Inborn genetic diseases [RCV002693822] | Chr8:67204741 [GRCh38] Chr8:68116976 [GRCh37] Chr8:8q13.2 |
uncertain significance |
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.3470-12T>C | single nucleotide variant | Joubert syndrome 21 [RCV002636265] | Chr8:67195370 [GRCh38] Chr8:68107605 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_006421.5(ARFGEF1):c.2699-1G>A | single nucleotide variant | not provided [RCV002885864] | Chr8:67251451 [GRCh38] Chr8:68163686 [GRCh37] Chr8:8q13.2 |
likely benign|uncertain significance |
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.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_006421.5(ARFGEF1):c.1429T>C (p.Phe477Leu) | single nucleotide variant | Inborn genetic diseases [RCV002869662] | Chr8:67271845 [GRCh38] Chr8:68184080 [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.3354A>G (p.Ala1118=) | single nucleotide variant | CSPP1-related condition [RCV003936437]|Joubert syndrome 21 [RCV002953166] | Chr8:67193487 [GRCh38] Chr8:68105722 [GRCh37] Chr8:8q13.2 |
likely benign |
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.3652T>C (p.Trp1218Arg) | single nucleotide variant | Joubert syndrome 21 [RCV002912485] | Chr8:67195564 [GRCh38] Chr8:68107799 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_006421.5(ARFGEF1):c.208T>G (p.Ser70Ala) | single nucleotide variant | Inborn genetic diseases [RCV002844780] | Chr8:67301328 [GRCh38] Chr8:68213563 [GRCh37] Chr8:8q13.2 |
uncertain significance |
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.3221-5C>T | single nucleotide variant | Joubert syndrome 21 [RCV002761501] | Chr8:67190645 [GRCh38] Chr8:68102880 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_006421.5(ARFGEF1):c.4744G>A (p.Asp1582Asn) | single nucleotide variant | Inborn genetic diseases [RCV002738097] | Chr8:67211558 [GRCh38] Chr8:68123793 [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.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.3166G>A (p.Asp1056Asn) | single nucleotide variant | Joubert syndrome 21 [RCV003005025] | Chr8:67179872 [GRCh38] Chr8:68092107 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_006421.5(ARFGEF1):c.3195A>T (p.Lys1065Asn) | single nucleotide variant | Inborn genetic diseases [RCV002874599] | Chr8:67238437 [GRCh38] Chr8:68150672 [GRCh37] Chr8:8q13.2 |
uncertain significance |
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_006421.5(ARFGEF1):c.4208+3A>G | single nucleotide variant | Inborn genetic diseases [RCV002697278] | Chr8:67224900 [GRCh38] Chr8:68137135 [GRCh37] Chr8:8q13.2 |
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.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.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.3330+20C>T | single nucleotide variant | Joubert syndrome 21 [RCV003085119] | Chr8:67190779 [GRCh38] Chr8:68103014 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_006421.5(ARFGEF1):c.490A>G (p.Ile164Val) | single nucleotide variant | Inborn genetic diseases [RCV002930842] | Chr8:67296580 [GRCh38] Chr8:68208815 [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.3606G>C (p.Leu1202=) | single nucleotide variant | Joubert syndrome 21 [RCV002626707] | Chr8:67195518 [GRCh38] Chr8:68107753 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_006421.5(ARFGEF1):c.596C>A (p.Thr199Asn) | single nucleotide variant | Inborn genetic diseases [RCV002665897] | Chr8:67296474 [GRCh38] Chr8:68208709 [GRCh37] Chr8:8q13.2 |
uncertain significance |
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.3266del (p.Pro1089fs) | deletion | Joubert syndrome 21 [RCV002626911] | Chr8:67190693 [GRCh38] Chr8:68102928 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_006421.5(ARFGEF1):c.4286G>T (p.Arg1429Ile) | single nucleotide variant | Inborn genetic diseases [RCV002930294] | Chr8:67219483 [GRCh38] Chr8:68131718 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_006421.5(ARFGEF1):c.4655C>A (p.Pro1552Gln) | single nucleotide variant | Inborn genetic diseases [RCV002698289] | Chr8:67216621 [GRCh38] Chr8:68128856 [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.3662T>C (p.Leu1221Pro) | single nucleotide variant | Joubert syndrome 21 [RCV002720242] | Chr8:67195574 [GRCh38] Chr8:68107809 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_006421.5(ARFGEF1):c.4655dup (p.Pro1553fs) | duplication | not provided [RCV002967250] | Chr8:67216620..67216621 [GRCh38] Chr8:68128855..68128856 [GRCh37] Chr8:8q13.2 |
pathogenic |
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.3366C>T (p.Leu1122=) | single nucleotide variant | Joubert syndrome 21 [RCV002834601] | Chr8:67193499 [GRCh38] Chr8:68105734 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_006421.5(ARFGEF1):c.5224A>G (p.Ser1742Gly) | single nucleotide variant | Inborn genetic diseases [RCV002769458] | Chr8:67201510 [GRCh38] Chr8:68113745 [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.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.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.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_006421.5(ARFGEF1):c.4810T>C (p.Ser1604Pro) | single nucleotide variant | Inborn genetic diseases [RCV002941069] | Chr8:67211492 [GRCh38] Chr8:68123727 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_006421.5(ARFGEF1):c.1932A>C (p.Lys644Asn) | single nucleotide variant | Inborn genetic diseases [RCV002675092] | Chr8:67266197 [GRCh38] Chr8:68178432 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_006421.5(ARFGEF1):c.4067A>G (p.Asp1356Gly) | single nucleotide variant | Inborn genetic diseases [RCV002679274] | Chr8:67226033 [GRCh38] Chr8:68138268 [GRCh37] Chr8:8q13.2 |
uncertain significance |
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.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.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_006421.5(ARFGEF1):c.1739A>C (p.Glu580Ala) | single nucleotide variant | Inborn genetic diseases [RCV003256111] | Chr8:67267164 [GRCh38] Chr8:68179399 [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_006421.5(ARFGEF1):c.4829A>G (p.Glu1610Gly) | single nucleotide variant | Inborn genetic diseases [RCV003203185] | Chr8:67204810 [GRCh38] Chr8:68117045 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_006421.5(ARFGEF1):c.5144C>T (p.Ser1715Phe) | single nucleotide variant | Inborn genetic diseases [RCV003210742] | Chr8:67201590 [GRCh38] Chr8:68113825 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_006421.5(ARFGEF1):c.3054G>C (p.Met1018Ile) | single nucleotide variant | Inborn genetic diseases [RCV003213397] | Chr8:67238819 [GRCh38] Chr8:68151054 [GRCh37] Chr8:8q13.2 |
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_006421.5(ARFGEF1):c.1387A>G (p.Ile463Val) | single nucleotide variant | not provided [RCV003159430] | Chr8:67271887 [GRCh38] Chr8:68184122 [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_006421.5(ARFGEF1):c.2860_2861del (p.Thr954fs) | deletion | Developmental delay, impaired speech, and behavioral abnormalities [RCV003142385] | Chr8:67240280..67240281 [GRCh38] Chr8:68152515..68152516 [GRCh37] Chr8:8q13.2 |
likely pathogenic |
NM_006421.5(ARFGEF1):c.473C>T (p.Ala158Val) | single nucleotide variant | Inborn genetic diseases [RCV003208665] | Chr8:67296597 [GRCh38] Chr8:68208832 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_006421.5(ARFGEF1):c.1528A>T (p.Thr510Ser) | single nucleotide variant | Global developmental delay with or without impaired intellectual development [RCV003140426] | Chr8:67271746 [GRCh38] Chr8:68183981 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_006421.5(ARFGEF1):c.2175G>A (p.Met725Ile) | single nucleotide variant | Glycogen storage disease IXd [RCV003140514] | Chr8:67259875 [GRCh38] Chr8:68172110 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_006421.5(ARFGEF1):c.2851-1G>T | single nucleotide variant | Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV003224987] | Chr8:67240291 [GRCh38] Chr8:68152526 [GRCh37] Chr8:8q13.2 |
likely pathogenic |
NC_000008.10:g.(68115487_68116914)_(68130374_68131665)del | deletion | not specified [RCV003226774] | Chr8:68116914..68130374 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_006421.5(ARFGEF1):c.4790A>G (p.Glu1597Gly) | single nucleotide variant | Inborn genetic diseases [RCV003309073] | Chr8:67211512 [GRCh38] Chr8:68123747 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_006421.5(ARFGEF1):c.5549G>T (p.Ter1850Leu) | single nucleotide variant | not provided [RCV003318959] | Chr8:67198935 [GRCh38] Chr8:68111170 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_006421.5(ARFGEF1):c.5164C>T (p.Gln1722Ter) | single nucleotide variant | Inborn genetic diseases [RCV003341079] | Chr8:67201570 [GRCh38] Chr8:68113805 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_006421.5(ARFGEF1):c.38C>T (p.Thr13Ile) | single nucleotide variant | Inborn genetic diseases [RCV003342312] | Chr8:67343250 [GRCh38] Chr8:68255485 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_006421.5(ARFGEF1):c.3182del (p.Gly1061fs) | deletion | Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV003387594] | Chr8:67238450 [GRCh38] Chr8:68150685 [GRCh37] Chr8:8q13.2 |
likely pathogenic |
NM_006421.5(ARFGEF1):c.3752C>T (p.Thr1251Ile) | single nucleotide variant | not provided [RCV003387620] | Chr8:67227301 [GRCh38] Chr8:68139536 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_006421.5(ARFGEF1):c.3418A>G (p.Ile1140Val) | single nucleotide variant | Inborn genetic diseases [RCV003343348] | Chr8:67228227 [GRCh38] Chr8:68140462 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_006421.5(ARFGEF1):c.1303A>G (p.Met435Val) | single nucleotide variant | not specified [RCV003331572] | Chr8:67276010 [GRCh38] Chr8:68188245 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_006421.5(ARFGEF1):c.287T>A (p.Val96Asp) | single nucleotide variant | not provided [RCV003332734] | Chr8:67301249 [GRCh38] Chr8:68213484 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_006421.5(ARFGEF1):c.3814C>T (p.Arg1272Ter) | single nucleotide variant | Inborn genetic diseases [RCV003371945] | Chr8:67227239 [GRCh38] Chr8:68139474 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_006421.5(ARFGEF1):c.4554A>T (p.Glu1518Asp) | single nucleotide variant | Inborn genetic diseases [RCV003385625] | Chr8:67217841 [GRCh38] Chr8:68130076 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_006421.5(ARFGEF1):c.1853C>T (p.Ser618Leu) | single nucleotide variant | Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV003333434] | Chr8:67266944 [GRCh38] Chr8:68179179 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_006421.5(ARFGEF1):c.1496A>G (p.Glu499Gly) | single nucleotide variant | Inborn genetic diseases [RCV003364625] | Chr8:67271778 [GRCh38] Chr8:68184013 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_006421.5(ARFGEF1):c.761T>C (p.Val254Ala) | single nucleotide variant | Inborn genetic diseases [RCV003373912] | Chr8:67292002 [GRCh38] Chr8:68204237 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_006421.5(ARFGEF1):c.4831_4832del (p.Gln1611fs) | deletion | not provided [RCV003457537] | Chr8:67204807..67204808 [GRCh38] Chr8:68117042..68117043 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_006421.5(ARFGEF1):c.1031T>C (p.Met344Thr) | single nucleotide variant | Inborn genetic diseases [RCV003369010]|not specified [RCV003988112] | Chr8:67277454 [GRCh38] Chr8:68189689 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_006421.5(ARFGEF1):c.996_1005del (p.Val333fs) | deletion | Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV003448540] | Chr8:67287977..67287986 [GRCh38] Chr8:68200212..68200221 [GRCh37] Chr8:8q13.2 |
likely pathogenic |
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_006421.5(ARFGEF1):c.4357A>G (p.Thr1453Ala) | single nucleotide variant | not provided [RCV003874441] | Chr8:67218120 [GRCh38] Chr8:68130355 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_006421.5(ARFGEF1):c.4156C>G (p.Leu1386Val) | single nucleotide variant | Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV003448565] | Chr8:67224955 [GRCh38] Chr8:68137190 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_006421.5(ARFGEF1):c.1337+1G>C | single nucleotide variant | Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV003389292] | Chr8:67275975 [GRCh38] Chr8:68188210 [GRCh37] Chr8:8q13.2 |
likely pathogenic |
NM_006421.5(ARFGEF1):c.4627C>T (p.Arg1543Ter) | single nucleotide variant | Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV003389305] | Chr8:67216649 [GRCh38] Chr8:68128884 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_006421.5(ARFGEF1):c.4907T>C (p.Phe1636Ser) | single nucleotide variant | not provided [RCV003435517] | Chr8:67204732 [GRCh38] Chr8:68116967 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_006421.5(ARFGEF1):c.2743A>G (p.Met915Val) | single nucleotide variant | not provided [RCV003443796] | Chr8:67251406 [GRCh38] Chr8:68163641 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_006421.5(ARFGEF1):c.3474G>A (p.Thr1158=) | single nucleotide variant | not provided [RCV003423937] | Chr8:67228080 [GRCh38] Chr8:68140315 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_006421.5(ARFGEF1):c.2857T>G (p.Trp953Gly) | single nucleotide variant | ARFGEF1-related condition [RCV003404314] | Chr8:67240284 [GRCh38] Chr8:68152519 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_006421.5(ARFGEF1):c.5486G>A (p.Arg1829Gln) | single nucleotide variant | ARFGEF1-related condition [RCV003412256] | Chr8:67198998 [GRCh38] Chr8:68111233 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_006421.5(ARFGEF1):c.1865G>A (p.Cys622Tyr) | single nucleotide variant | not provided [RCV003435519] | Chr8:67266932 [GRCh38] Chr8:68179167 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_006421.5(ARFGEF1):c.3978T>C (p.Cys1326=) | single nucleotide variant | not provided [RCV003435518] | Chr8:67226122 [GRCh38] Chr8:68138357 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_006421.5(ARFGEF1):c.3699_3705del (p.Gln1233fs) | deletion | ARFGEF1-related condition [RCV003406103] | Chr8:67227485..67227491 [GRCh38] Chr8:68139720..68139726 [GRCh37] Chr8:8q13.2 |
likely pathogenic |
NM_006421.5(ARFGEF1):c.1922-2A>G | single nucleotide variant | not provided [RCV003442298] | Chr8:67266209 [GRCh38] Chr8:68178444 [GRCh37] Chr8:8q13.2 |
pathogenic |
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_006421.5(ARFGEF1):c.3212G>A (p.Gly1071Glu) | single nucleotide variant | not specified [RCV003489631] | Chr8:67238420 [GRCh38] Chr8:68150655 [GRCh37] Chr8:8q13.2 |
uncertain significance |
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.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.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.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.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.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.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.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.3220+8T>C | single nucleotide variant | Joubert syndrome 21 [RCV003744130] | Chr8:67179934 [GRCh38] Chr8:68092169 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_006421.5(ARFGEF1):c.1118A>G (p.Asn373Ser) | single nucleotide variant | Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV003492912] | Chr8:67277367 [GRCh38] Chr8:68189602 [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.3221-10G>A | single nucleotide variant | Joubert syndrome 21 [RCV003744440] | Chr8:67190640 [GRCh38] Chr8:68102875 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_006421.5(ARFGEF1):c.3718T>G (p.Phe1240Val) | single nucleotide variant | Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV003764485] | Chr8:67227472 [GRCh38] Chr8:68139707 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_006421.5(ARFGEF1):c.3305A>G (p.Asp1102Gly) | single nucleotide variant | Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV003764488] | Chr8:67232930 [GRCh38] Chr8:68145165 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_006421.5(ARFGEF1):c.398C>T (p.Thr133Ile) | single nucleotide variant | Developmental disorder [RCV003764471] | Chr8:67299270 [GRCh38] Chr8:68211505 [GRCh37] Chr8:8q13.2 |
uncertain significance |
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 |
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 |
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.3222G>T (p.Gly1074=) | single nucleotide variant | Joubert syndrome 21 [RCV003848527] | Chr8:67190651 [GRCh38] Chr8:68102886 [GRCh37] Chr8:8q13.2 |
likely benign |
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 |
NM_006421.5(ARFGEF1):c.5350T>C (p.Phe1784Leu) | single nucleotide variant | ARFGEF1-related condition [RCV003893859] | Chr8:67200431 [GRCh38] Chr8:68112666 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_006421.5(ARFGEF1):c.4984C>T (p.Arg1662Cys) | single nucleotide variant | ARFGEF1-related condition [RCV003911819] | Chr8:67203227 [GRCh38] Chr8:68115462 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_006421.5(ARFGEF1):c.1275A>G (p.Leu425=) | single nucleotide variant | ARFGEF1-related condition [RCV003909348] | Chr8:67276038 [GRCh38] Chr8:68188273 [GRCh37] Chr8:8q13.2 |
likely benign |
NM_006421.5(ARFGEF1):c.3743+2T>C | single nucleotide variant | Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [RCV003985060] | Chr8:67227445 [GRCh38] Chr8:68139680 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_006421.5(ARFGEF1):c.3289+1G>A | single nucleotide variant | not provided [RCV003887619] | Chr8:67238342 [GRCh38] Chr8:68150577 [GRCh37] Chr8:8q13.2 |
pathogenic |
NM_006421.5(ARFGEF1):c.37A>T (p.Thr13Ser) | single nucleotide variant | ARFGEF1-related condition [RCV003969116] | Chr8:67343251 [GRCh38] Chr8:68255486 [GRCh37] Chr8:8q13.2 |
uncertain significance |
NM_006421.5(ARFGEF1):c.1010T>C (p.Val337Ala) | single nucleotide variant | Inborn genetic diseases [RCV003361380] | Chr8:67287972 [GRCh38] Chr8:68200207 [GRCh37] Chr8:8q13.2 |
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. |
L17871 |
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G17212 |
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RH91158 |
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RH93991 |
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G59907 |
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RH118724 |
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D8S1378E |
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ARFGEF1_9142 |
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G06218 |
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RH36443 |
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A009B39 |
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WIAF-2084 |
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G32393 |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | visual system | adipose tissue | appendage | entire extraembryonic component | pharyngeal arch | |
High | ||||||||||||||||||
Medium | 2125 | 1554 | 1254 | 254 | 1397 | 111 | 3604 | 984 | 1502 | 307 | 1391 | 1586 | 156 | 998 | 2104 | 4 | ||
Low | 312 | 1429 | 471 | 370 | 553 | 353 | 752 | 1208 | 2219 | 112 | 67 | 24 | 17 | 1 | 206 | 684 | 1 | 2 |
Below cutoff | 1 | 6 | 1 | 1 | 1 | 3 | 12 | 2 | 2 | 1 | 1 |
RefSeq Transcripts | NM_001413184 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001413185 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001413186 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001413187 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001413188 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001413189 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001413190 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001413191 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001413192 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001413193 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001413194 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001413195 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001413196 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001413197 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_006421 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_182117 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047421266 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054359587 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AB209324 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC021321 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC087359 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF084520 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF111162 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AI523655 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AI692863 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AI797683 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK001788 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK022557 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK025637 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK123660 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK127799 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL117446 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BE048435 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CA314908 | (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 |
RefSeq Acc Id: | ENST00000262215 ⟹ ENSP00000262215 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000517955 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000518230 ⟹ ENSP00000430891 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000518290 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000518789 ⟹ ENSP00000429560 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000519436 ⟹ ENSP00000429002 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000520381 ⟹ ENSP00000428429 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000522878 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001413184 ⟹ NP_001400113 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001413185 ⟹ NP_001400114 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001413186 ⟹ NP_001400115 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001413187 ⟹ NP_001400116 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001413188 ⟹ NP_001400117 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001413189 ⟹ NP_001400118 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001413190 ⟹ NP_001400119 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001413191 ⟹ NP_001400120 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001413192 ⟹ NP_001400121 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001413193 ⟹ NP_001400122 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001413194 ⟹ NP_001400123 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001413195 ⟹ NP_001400124 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001413196 ⟹ NP_001400125 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001413197 ⟹ NP_001400126 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_006421 ⟹ NP_006412 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NR_182117 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | XM_047421266 ⟹ XP_047277222 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054359587 ⟹ XP_054215562 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Protein RefSeqs | NP_001400113 | (Get FASTA) | NCBI Sequence Viewer |
NP_001400114 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001400115 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001400116 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001400117 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001400118 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001400119 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001400120 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001400121 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001400122 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001400123 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001400124 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001400125 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001400126 | (Get FASTA) | NCBI Sequence Viewer | |
NP_006412 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047277222 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054215562 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAD38427 | (Get FASTA) | NCBI Sequence Viewer |
AAD43651 | (Get FASTA) | NCBI Sequence Viewer | |
BAA91912 | (Get FASTA) | NCBI Sequence Viewer | |
BAD92561 | (Get FASTA) | NCBI Sequence Viewer | |
BAG51091 | (Get FASTA) | NCBI Sequence Viewer | |
CAB55931 | (Get FASTA) | NCBI Sequence Viewer | |
EAW86935 | (Get FASTA) | NCBI Sequence Viewer | |
EAW86936 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000262215 | ||
ENSP00000262215.3 | |||
ENSP00000428429 | |||
ENSP00000428429.2 | |||
ENSP00000429002.1 | |||
ENSP00000429560.2 | |||
ENSP00000430891.2 | |||
GenBank Protein | Q9Y6D6 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_006412 ⟸ NM_006421 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q9UFV2 (UniProtKB/Swiss-Prot), Q9NV46 (UniProtKB/Swiss-Prot), Q9UNL0 (UniProtKB/Swiss-Prot), Q9Y6D6 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | ENSP00000429560 ⟸ ENST00000518789 |
RefSeq Acc Id: | ENSP00000430891 ⟸ ENST00000518230 |
RefSeq Acc Id: | ENSP00000429002 ⟸ ENST00000519436 |
RefSeq Acc Id: | ENSP00000428429 ⟸ ENST00000520381 |
RefSeq Acc Id: | ENSP00000262215 ⟸ ENST00000262215 |
RefSeq Acc Id: | XP_047277222 ⟸ XM_047421266 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | NP_001400115 ⟸ NM_001413186 |
- Peptide Label: | isoform 3 |
RefSeq Acc Id: | NP_001400116 ⟸ NM_001413187 |
- Peptide Label: | isoform 4 |
RefSeq Acc Id: | NP_001400114 ⟸ NM_001413185 |
- Peptide Label: | isoform 2 |
RefSeq Acc Id: | NP_001400113 ⟸ NM_001413184 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q9Y6D6 (UniProtKB/Swiss-Prot), Q9UFV2 (UniProtKB/Swiss-Prot), Q9NV46 (UniProtKB/Swiss-Prot), Q9UNL0 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | NP_001400117 ⟸ NM_001413188 |
- Peptide Label: | isoform 5 |
RefSeq Acc Id: | NP_001400126 ⟸ NM_001413197 |
- Peptide Label: | isoform 5 |
RefSeq Acc Id: | NP_001400125 ⟸ NM_001413196 |
- Peptide Label: | isoform 12 |
- UniProtKB: | Q59FY5 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | NP_001400119 ⟸ NM_001413190 |
- Peptide Label: | isoform 6 |
RefSeq Acc Id: | NP_001400121 ⟸ NM_001413192 |
- Peptide Label: | isoform 8 |
RefSeq Acc Id: | NP_001400118 ⟸ NM_001413189 |
- Peptide Label: | isoform 2 |
RefSeq Acc Id: | NP_001400120 ⟸ NM_001413191 |
- Peptide Label: | isoform 7 |
RefSeq Acc Id: | NP_001400123 ⟸ NM_001413194 |
- Peptide Label: | isoform 10 |
RefSeq Acc Id: | NP_001400122 ⟸ NM_001413193 |
- Peptide Label: | isoform 9 |
RefSeq Acc Id: | NP_001400124 ⟸ NM_001413195 |
- Peptide Label: | isoform 11 |
RefSeq Acc Id: | XP_054215562 ⟸ XM_054359587 |
- Peptide Label: | isoform X1 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q9Y6D6-F1-model_v2 | AlphaFold | Q9Y6D6 | 1-1849 | view protein structure |
RGD ID: | 7213459 | ||||||||
Promoter ID: | EPDNEW_H12475 | ||||||||
Type: | initiation region | ||||||||
Name: | ARFGEF1_2 | ||||||||
Description: | ADP ribosylation factor guanine nucleotide exchange factor 1 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H12476 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 7213461 | ||||||||
Promoter ID: | EPDNEW_H12476 | ||||||||
Type: | initiation region | ||||||||
Name: | ARFGEF1_1 | ||||||||
Description: | ADP ribosylation factor guanine nucleotide exchange factor 1 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H12475 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
|
RGD ID: | 6806501 | ||||||||
Promoter ID: | HG_KWN:61445 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, HeLa_S3, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | NM_006421 | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:15772 | AgrOrtholog |
COSMIC | ARFGEF1 | COSMIC |
Ensembl Genes | ENSG00000066777 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000262215 | ENTREZGENE |
ENST00000262215.8 | UniProtKB/Swiss-Prot | |
ENST00000518230.5 | UniProtKB/TrEMBL | |
ENST00000518789.5 | UniProtKB/TrEMBL | |
ENST00000519436.1 | UniProtKB/TrEMBL | |
ENST00000520381 | ENTREZGENE | |
ENST00000520381.5 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.10.1000.11 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
1.10.220.20 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
1.25.10.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GTEx | ENSG00000066777 | GTEx |
HGNC ID | HGNC:15772 | ENTREZGENE |
Human Proteome Map | ARFGEF1 | Human Proteome Map |
InterPro | ARM-like | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
ARM-type_fold | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
DCB_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Sec7/BIG1-like_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Sec7_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Sec7_C_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Sec7_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Sec7_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Sec7_N | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:10565 | UniProtKB/Swiss-Prot |
NCBI Gene | 10565 | ENTREZGENE |
OMIM | 604141 | OMIM |
PANTHER | BREFELDIN A-INHIBITED GUANINE NUCLEOTIDE-EXCHANGE PROTEIN 1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GUANYL-NUCLEOTIDE EXCHANGE FACTOR | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | BIG2_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
DCB | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
DUF1981 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Sec7 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Sec7_N | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | PA134908197 | PharmGKB |
PROSITE | SEC7 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SMART | Sec7 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | SSF48371 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SSF48425 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
UniProt | BIG1_HUMAN | UniProtKB/Swiss-Prot |
E5RHL7_HUMAN | UniProtKB/TrEMBL | |
E5RHZ1_HUMAN | UniProtKB/TrEMBL | |
E5RIF2_HUMAN | UniProtKB/TrEMBL | |
E5RJN9_HUMAN | UniProtKB/TrEMBL | |
Q59FY5 | ENTREZGENE, UniProtKB/TrEMBL | |
Q9NV46 | ENTREZGENE | |
Q9UFV2 | ENTREZGENE | |
Q9UNL0 | ENTREZGENE | |
Q9Y6D6 | ENTREZGENE | |
UniProt Secondary | Q9NV46 | UniProtKB/Swiss-Prot |
Q9UFV2 | UniProtKB/Swiss-Prot | |
Q9UNL0 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2015-11-24 | ARFGEF1 | ADP ribosylation factor guanine nucleotide exchange factor 1 | ARFGEF1 | ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) | Symbol and/or name change | 5135510 | APPROVED |
2011-08-23 | ARFGEF1 | ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) | ARFGEF1 | ADP-ribosylation factor guanine nucleotide-exchange factor 1(brefeldin A-inhibited) | Symbol and/or name change | 5135510 | APPROVED |