Q8TAM1
PR
Gene name |
BBS10 (C12orf58) |
Protein name |
Bardet-Biedl syndrome 10 protein |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:79738 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q8TAM1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8TAM1-F1 | Predicted | AlphaFoldDB |
756 variants for Q8TAM1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000593417 RCV002531100 rs1382481529 RCV000674655 |
1 | M>T | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001267655 RCV002537702 rs750665609 |
3 | S>R | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1278460471 RCV000669901 RCV001855531 |
10 | S>missing | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA251749 RCV000001395 VAR_075722 rs137852838 |
11 | V>G | Bardet-Biedl syndrome 10 BBS10 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1555202806 RCV001834975 RCV002223890 RCV000622924 RCV000810149 |
14 | A>missing | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1001512051 CA385816339 RCV001835850 RCV000540844 |
19 | E>Q | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA645372917 rs1555202801 RCV000984151 RCV000498071 |
28 | C>* | Bardet-Biedl syndrome 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1486182131 RCV001205221 CA385816260 |
31 | P>L | Bardet-Biedl syndrome Bardet-biedl syndrome (bbs) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA251747 rs137852836 RCV000001392 VAR_026391 |
34 | R>P | Bardet-Biedl syndrome 10 BBS10; has moderately reduced ability to interact with BBS7 and BBS9 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA239332854 RCV001831001 RCV001325341 rs896544129 |
36 | V>F | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000667409 rs202228478 CA6694424 RCV001387800 |
40 | K>* | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome Bardet-biedl syndrome (bbs) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs1310735399 RCV000672846 CA385816183 |
44 | E>* | Variant assessed as Somatic; impact. Bardet-Biedl syndrome 10 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
rs1951778317 RCV001234821 |
46 | L>F | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000576728 RCV000626963 RCV000210662 RCV001075496 CA358165 RCV000799037 RCV001291592 VAR_026392 rs768933093 |
49 | R>W | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome Bardet-biedl syndrome (bbs) Retinal dystrophy Inborn genetic diseases BBS10; has moderately reduced ability to interact with BBS7 and BBS9 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001383856 rs1460517643 CA385816113 RCV000625185 RCV000763309 VAR_066252 RCV001579764 |
55 | L>P | Bardet-Biedl syndrome 1 Bardet-Biedl syndrome 10 Bardet-Biedl syndrome BBS10 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
CA385816034 RCV000735924 rs1565810301 |
66 | R>S | Bardet-Biedl syndrome Bardet-biedl syndrome (bbs) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA6694387 RCV001322645 rs750428156 |
68 | I>T | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1176176320 RCV002554702 RCV001074159 CA385816014 |
69 | V>E | Bardet-Biedl syndrome Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001337218 rs529208223 RCV001830395 |
70 | D>G | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1057516861 RCV000410999 |
72 | V>missing | Bardet-Biedl syndrome 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1057516861 RCV000409141 |
73 | S>missing | Bardet-Biedl syndrome 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs767638924 CA385815970 RCV001229600 RCV001836182 |
76 | L>F | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs760693838 RCV001175030 RCV001075500 RCV001093325 RCV000670255 |
79 | T>missing | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000466285 rs1060500996 |
86 | F>missing | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555202737 RCV000669881 |
86 | F>missing | Bardet-Biedl syndrome 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000623309 RCV000168127 RCV000144680 RCV001074512 RCV000487323 RCV000709625 RCV000001391 rs549625604 RCV000504690 |
91 | C>missing | Bardet-Biedl syndrome 1 Retinitis pigmentosa Bardet-biedl syndrome 6/10, digenic Bardet-Biedl syndrome 10 Bardet-Biedl syndrome Retinal dystrophy Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000225785 RCV000732709 RCV000023803 VAR_026393 rs148374859 CA259914 |
91 | C>W | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome Bardet-biedl syndrome (bbs) BBS10; has moderately reduced ability to interact with BBS7 and BBS9 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs1057516701 RCV000412329 |
100 | I>missing | Bardet-Biedl syndrome 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001009077 RCV001860600 rs745497072 |
102 | D>missing | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000671097 rs1555202731 |
107 | P>missing | Bardet-Biedl syndrome 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1254886838 RCV001248172 CA385815707 |
115 | T>I | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001206200 rs1951771611 |
117 | G>A | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1951771573 RCV001213955 |
120 | W>* | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000410231 rs1057516240 CA16041588 |
121 | K>* | Bardet-Biedl syndrome 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs774095109 RCV001382787 RCV000409427 |
122 | N>missing | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000409088 CA16041587 rs1057516753 |
126 | W>* | Bardet-Biedl syndrome 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001054267 CA239332495 rs936655028 |
127 | K>R | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000812239 CA385815394 rs1592492746 |
128 | F>S | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000502804 RCV002527206 CA6694360 rs766572403 |
130 | S>F | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs750446869 RCV001066320 RCV001833642 |
133 | L>F | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001246779 rs769181256 CA6694354 |
136 | F>L | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1555202717 RCV000668525 |
139 | Q>missing | Bardet-Biedl syndrome 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs142863601 CA179770 RCV001079951 VAR_066253 RCV000152829 RCV000709626 RCV001111799 RCV000224320 |
142 | D>N | Bardet-Biedl syndrome 1 Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA6694347 rs144312522 RCV001833839 RCV001209326 |
145 | M>T | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA6694345 RCV001109510 RCV000473968 rs140585012 |
147 | Q>R | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002495166 rs770053320 RCV000818918 |
149 | L>missing | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs573346325 RCV001325484 |
150 | S>R | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6694333 rs553291328 RCV001058425 |
158 | S>* | Bardet-Biedl syndrome Bardet-biedl syndrome (bbs) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs780916348 CA6694324 VAR_026394 |
170 | L>S | BBS10 [UniProt] | Yes |
ClinGen UniProt ExAC dbSNP gnomAD |
|
CA336530 rs863224522 RCV000409505 RCV000196568 |
177 | Y>* | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000735925 CA385814987 RCV000672526 rs1555202700 |
177 | Y>C | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome Bardet-biedl syndrome (bbs) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000674192 rs1555202698 |
178 | F>missing | Bardet-Biedl syndrome 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs574032499 RCV000665633 CA6694322 |
179 | C>* | Bardet-Biedl syndrome 10 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA385814966 RCV001309745 rs1555202697 RCV000578172 |
180 | G>E | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000735926 rs781421232 |
187 | H>missing | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs753964273 CA6694319 RCV001109508 |
187 | H>N | Bardet-Biedl syndrome 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_066254 | 188 | K>T | BBS10; associated with V-636 [UniProt] | Yes | UniProt |
|
rs1057516266 RCV000411390 RCV002523848 |
190 | I>missing | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1951767969 TCGA novel RCV001348871 |
191 | S>L | Variant assessed as Somatic; impact. Bardet-Biedl syndrome [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP |
|
rs1057517184 RCV000411485 CA16041585 RCV002524624 |
192 | Q>* | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1951767864 RCV001199433 |
193 | L>S | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA239332333 RCV001829988 RCV001246384 rs775747309 |
195 | C>G | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
| VAR_026395 | 195 | C>W | BBS10 [UniProt] | Yes | UniProt |
|
rs756632517 RCV000504949 CA6694316 RCV002490846 RCV001324945 VAR_026396 |
197 | Y>C | Retinitis pigmentosa Bardet-Biedl syndrome 10 Bardet-Biedl syndrome Retinitis pigmentosa (rp) BBS10 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV001229655 rs1318745309 RCV002497781 |
197 | Y>missing | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1951767589 RCV001038598 |
200 | K>* | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6694315 RCV001272005 rs753138845 RCV002544448 RCV000932222 |
203 | T>A | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1396355979 RCV001204043 CA385814763 |
209 | G>C | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000486438 RCV000826096 rs1555202695 |
216 | D>missing | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000401310 RCV000197461 rs761101213 RCV000724959 |
230 | V>missing | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_026397 | 240 | V>G | BBS10; has moderately reduced ability to interact with BBS7 and BBS9; severely reduces the interaction with BBS12; 8% of wild-type [UniProt] | Yes | UniProt |
|
RCV000735927 rs1565809995 |
242 | Q>missing | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000169474 rs786204671 RCV000638365 |
243 | K>missing | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555202687 RCV000669080 |
249 | R>missing | Bardet-Biedl syndrome 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001272004 CA6694295 RCV000692724 rs149760791 |
251 | A>V | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000801717 RCV000667212 rs139658279 VAR_066255 RCV000625184 RCV001706242 CA6694290 RCV000224072 |
255 | M>I | Bardet-Biedl syndrome 1 Bardet-Biedl syndrome 10 Bardet-Biedl syndrome Bardet-biedl syndrome (bbs) found in a patient with Bardet-Biedl syndrome homozygous for a mutation in BBS2; unknown pathological significance [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA6694291 rs772739860 RCV001236722 |
255 | M>V | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA501144 RCV000806720 rs1156913215 RCV000666720 |
256 | R>* | Variant assessed as Somatic; impact. Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
rs1555202681 RCV000665838 |
262 | E>missing | Bardet-Biedl syndrome 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001827417 rs781723681 RCV001064344 CA6694279 |
272 | G>A | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA6694275 RCV001038400 rs758732081 RCV000666092 |
284 | Q>* | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome Bardet-biedl syndrome (bbs) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000658658 RCV000411839 rs1057516836 |
287 | Q>missing | Bardet-Biedl syndrome 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_066256 RCV001816892 RCV001702720 RCV001276474 CA6694269 RCV002537389 RCV000814869 rs150587582 |
296 | A>T | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome Inborn genetic diseases found in a patient with Bardet-Biedl syndrome compound heterozygote for mutations in BBS1; rare variant; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000622383 rs1555202668 |
300 | H>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
CA385813708 rs1555202666 RCV000658657 RCV001861704 |
301 | L>V | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000497796 RCV002508143 RCV000811417 RCV000984153 rs780059308 |
303 | S>missing | Bardet-biedl syndrome 1/10, digenic Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001832463 CA385813678 rs1160564103 RCV001049638 |
303 | S>T | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
| VAR_026398 | 308 | L>F | BBS10; has moderately reduced ability to interact with BBS7 and BBS9 [UniProt] | Yes | UniProt |
|
RCV001093324 RCV001328242 CA251748 RCV000001394 VAR_026399 rs137852837 |
311 | S>A | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome BBS10; has moderately reduced ability to interact with BBS7 and BBS9; severely reduces the interaction with BBS12; 19% of wild-type [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1951764875 RCV001319159 |
311 | S>F | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6694265 RCV001225750 RCV002484224 rs759385121 |
312 | S>G | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1592492255 CA385813506 RCV001004384 |
315 | Q>* | Bardet-Biedl syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000672454 RCV000256445 RCV001382046 rs758522600 |
320 | S>missing | Asphyxiating thoracic dystrophy 3 Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs771325212 RCV000782276 CA6694257 |
321 | Y>C | Bardet-Biedl syndrome Bardet-biedl syndrome (bbs) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA239332125 rs1000990130 RCV002535202 RCV000731325 VAR_026400 RCV001844231 |
329 | S>L | Bardet-Biedl syndrome BBS10; has moderately reduced ability to interact with BBS7 and BBS9; severely reduces the interaction with BBS12; 15% of wild-type [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
CA385813216 rs1565809867 RCV000699050 |
333 | C>* | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA658823431 RCV000670552 rs1555202657 |
334 | L>* | Bardet-Biedl syndrome 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA385813178 RCV000668802 rs1555202656 |
336 | S>* | Bardet-Biedl syndrome 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000668187 rs1555202655 |
336 | S>missing | Bardet-Biedl syndrome 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1057516998 RCV000410766 |
338 | E>missing | Bardet-Biedl syndrome 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs750611000 RCV001058989 RCV001836099 |
338 | E>missing | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA385813134 RCV001172268 rs1363498219 |
339 | V>D | Bardet-Biedl syndrome Bardet-biedl syndrome (bbs) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000411241 rs765561672 |
342 | I>missing | Bardet-Biedl syndrome 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs869025210 RCV000207540 |
342 | I>missing | Bardet-Biedl syndrome 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1951764046 RCV001044354 |
342 | I>T | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs201335653 CA6694243 RCV001859859 RCV000591216 RCV000388272 |
343 | R>Q | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000735922 rs587777837 RCV000023802 |
350 | P>missing | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1057516623 RCV000409349 |
353 | P>missing | Bardet-Biedl syndrome 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000665618 RCV002532043 rs1555202654 |
355 | Q>missing | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_026401 RCV000731326 rs938066133 CA239332081 RCV002535203 |
363 | P>L | Bardet-Biedl syndrome BBS10; has moderately reduced ability to interact with BBS7 and BBS9 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
RCV001070000 rs1951763406 |
371 | C>S | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs753604828 RCV002531305 RCV000672113 |
375 | I>missing | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000779831 rs11109474 CA239332056 RCV001272001 |
376 | L>V | Bardet-Biedl syndrome 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1951763168 RCV001347240 |
378 | S>F | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555202645 RCV000501217 |
380 | R>missing | Bardet-Biedl syndrome 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA385812597 RCV000735923 rs1340165752 RCV002485783 |
381 | Y>* | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome Bardet-biedl syndrome (bbs) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000669185 RCV000200691 CA339481 rs775492103 |
382 | V>F | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001276471 RCV000689197 CA385812595 rs775492103 |
382 | V>L | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000666905 rs1555202642 |
383 | H>missing | Bardet-Biedl syndrome 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs774809155 CA6694217 RCV001241149 RCV001835094 |
385 | G>D | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1951762690 RCV001278744 |
394 | P>Q | Bardet-Biedl syndrome 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs786204573 RCV000169315 RCV001174881 |
395 | H>missing | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001828036 rs863224793 CA336971 RCV000197080 |
395 | H>Q | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1368733646 RCV001175029 CA16021327 |
395 | H>R | Bardet-Biedl syndrome Bardet-biedl syndrome (bbs) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000669385 rs1555202636 |
396 | S>missing | Bardet-Biedl syndrome 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1057517206 RCV000409409 |
397 | I>missing | Bardet-Biedl syndrome 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA265990 RCV003221799 rs199474722 RCV000058867 |
401 | G>E | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs964776134 RCV001832410 CA239331987 RCV001042472 |
404 | H>R | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA385812132 rs1447555059 VAR_066257 |
410 | H>Q | BBS10 [UniProt] | Yes |
ClinGen UniProt TOPMed dbSNP gnomAD |
|
rs1951762170 RCV001834034 RCV001234944 |
410 | H>Y | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1057517156 RCV000409876 RCV002523871 |
412 | D>missing | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001835600 rs1413288461 CA385812105 RCV001319649 |
412 | D>H | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs786204575 VAR_026403 RCV000169317 RCV001244659 CA274166 |
414 | L>S | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome Bardet-biedl syndrome (bbs) BBS10 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV002544670 RCV000674334 rs760642305 |
415 | H>missing | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA239331954 rs537219462 RCV000623128 |
417 | A>E | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000668281 RCV001093323 rs537219462 CA385812004 RCV001202294 |
417 | A>V | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001059984 rs1951761840 |
420 | M>L | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs138961848 RCV001825730 RCV000866478 CA6694199 |
422 | R>Q | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA233510 rs375746803 RCV000152826 RCV001850085 RCV000671479 |
422 | R>W | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001835808 RCV000474659 CA6694198 rs149596527 |
426 | K>E | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001389994 rs1592491950 RCV000988874 |
439 | Q>missing | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6694192 RCV001278743 RCV002537809 rs780966013 |
442 | T>I | Bardet-Biedl syndrome 10 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001115136 RCV000638359 CA6694190 rs199878555 |
445 | L>I | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs767108821 RCV000671326 |
446 | F>missing | Bardet-Biedl syndrome 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001251482 RCV000667728 rs1389599028 |
446 | F>missing | Bardet-Biedl syndrome 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1460652135 RCV001115135 CA385811433 RCV002556258 |
447 | I>V | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs933207351 RCV001831147 CA239331868 RCV001348832 |
454 | S>G | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA385811331 rs778731343 RCV002546463 RCV001331336 |
455 | Y>* | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ExAC TOPMed gnomAD ClinVar dbSNP |
|
RCV000502061 RCV002496940 rs767717128 RCV001857077 CA6694181 |
461 | G>S | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs759682922 CA385811274 CA6694180 RCV000409848 RCV001041782 |
464 | S>* | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome Bardet-biedl syndrome (bbs) [ClinVar, Ensembl] | Yes |
ClinGen ExAC TOPMed gnomAD ClinVar dbSNP |
|
RCV001834033 RCV001234851 CA239331841 rs1022090476 |
467 | R>K | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA385811237 rs1356713858 RCV000779832 |
469 | Y>* | Bardet-Biedl syndrome 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000674904 rs1555202614 |
470 | Q>missing | Bardet-Biedl syndrome 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001274505 CA6694178 rs200718870 RCV000860647 |
471 | D>V | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA6694177 RCV000988873 rs763473990 |
473 | V>A | Bardet-Biedl syndrome 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs763473990 RCV001278742 |
473 | V>D | Bardet-Biedl syndrome 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001244429 rs138434761 CA6694173 RCV000591353 RCV000680159 |
479 | A>E | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs786204705 RCV000169519 |
483 | T>missing | Bardet-Biedl syndrome 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001388931 RCV000673054 rs759185809 |
483 | T>missing | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1565809597 RCV000692177 |
484 | Q>missing | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000780956 RCV001835957 rs1429011304 CA385811125 |
486 | Y>F | Bardet-Biedl syndrome 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001115134 rs1478926935 CA385811109 |
489 | V>L | Bardet-Biedl syndrome 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs886049850 RCV000273809 CA10633587 |
491 | S>Y | Bardet-Biedl syndrome 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1555202607 RCV000665681 |
497 | D>missing | Bardet-Biedl syndrome 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001274504 RCV000698200 CA6694164 rs753629989 |
497 | D>V | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001192908 rs898539189 CA239331757 RCV000503944 |
499 | E>* | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome Bardet-biedl syndrome (bbs) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000726137 rs886043841 RCV000371245 RCV001207355 |
504 | I>missing | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001234884 rs1951758972 |
505 | P>missing | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001112172 RCV001320622 CA6694158 rs750994616 |
506 | Y>N | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs773864735 RCV000412206 |
512 | T>missing | Bardet-Biedl syndrome 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555202599 RCV000670016 |
514 | T>missing | Bardet-Biedl syndrome 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1057517031 RCV000411271 RCV001861388 |
515 | D>missing | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000207760 rs869025211 |
516 | T>missing | Bardet-Biedl syndrome 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1951758601 RCV001070903 |
518 | Q>* | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000327598 CA10638603 rs886049849 |
523 | L>M | Bardet-Biedl syndrome 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1951758303 RCV001234155 |
530 | R>G | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001112170 rs146812823 RCV000863934 RCV001355061 CA6694143 |
530 | R>S | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002562467 RCV001218998 CA6694141 rs142297424 RCV001833900 |
532 | R>K | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000169372 rs770556842 RCV001204588 |
534 | T>missing | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001093322 rs1951757988 RCV001199432 |
535 | D>missing | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1951758028 RCV001309936 |
535 | D>V | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_052272 CA179768 RCV000576464 rs35676114 RCV000152825 RCV000270164 RCV001706010 |
539 | P>L | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001084157 RCV000152824 CA179766 RCV000438509 rs34737974 RCV001112169 |
544 | N>S | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001063673 RCV002555826 CA6694131 RCV001833622 rs770880993 |
547 | A>D | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000409496 rs1057516669 |
555 | I>missing | Bardet-Biedl syndrome 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000638386 RCV001699273 RCV001274501 CA6694129 RCV000243352 rs139719799 |
557 | I>V | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000586002 RCV000984154 rs1555202584 |
558 | S>* | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001850959 RCV000818478 CA6694126 RCV000409664 rs375413604 RCV000477827 CA16041577 RCV001075280 RCV001528233 |
559 | Y>* | Retinal dystrophy Bardet-Biedl syndrome 10 Bardet-Biedl syndrome Bardet-biedl syndrome (bbs) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1565809478 RCV001825512 CA913191137 RCV000782275 |
559 | Y>* | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome Bardet-biedl syndrome (bbs) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_079367 | 559 | Y>del | BBS10; unknown pathological significance [UniProt] | Yes | UniProt |
|
CA6694124 rs758489303 RCV001832502 RCV001055130 |
560 | E>K | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
CA385810514 RCV000672892 rs1555202583 |
563 | Q>* | Bardet-Biedl syndrome 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA6694118 RCV001829997 RCV001246747 rs373626588 |
567 | I>T | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000410139 rs1057516754 |
575 | P>missing | Bardet-Biedl syndrome 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001753428 rs141521925 CA260178 RCV000029402 VAR_026404 RCV000246690 RCV000675134 |
579 | K>R | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome BBS10 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001068635 CA6694113 RCV001827453 rs762432475 |
581 | P>L | Variant assessed as Somatic; 0.0 impact. Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000760514 rs1565809409 RCV001868300 CA385810000 RCV000679936 |
589 | Y>* | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome Bardet-biedl syndrome (bbs) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1951756219 RCV002486228 RCV001314394 |
594 | M>V | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_066258 | 600 | L>S | BBS10 [UniProt] | Yes | UniProt |
|
rs778431173 RCV001067371 CA385809868 CA6694102 RCV000624160 |
602 | V>L | Inborn genetic diseases Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000665937 CA385809862 rs756523417 |
603 | G>S | Bardet-Biedl syndrome 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001324308 rs1951755940 |
604 | G>A | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000666498 CA385809712 rs1555202572 |
610 | L>* | Bardet-Biedl syndrome 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000671818 rs575957641 CA241802 VAR_026405 RCV000175947 RCV002516694 |
613 | Y>C | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome BBS10 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
VAR_026406 RCV001828936 rs141647931 RCV001239753 CA6694098 |
613 | Y>H | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome Bardet-biedl syndrome (bbs) BBS10; has moderately reduced ability to interact with BBS7 and BBS9 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs869025209 RCV000207911 |
619 | K>missing | Bardet-Biedl syndrome 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001278739 RCV002542906 rs1951755649 |
619 | K>R | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001278738 rs1453149575 CA385809421 |
622 | H>R | Bardet-Biedl syndrome 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000844893 rs768385647 CA6694091 |
624 | S>* | Bardet-Biedl syndrome 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs768385647 RCV001059565 |
624 | S>L | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA385809179 rs144428139 RCV001111721 CA6694088 |
631 | M>I | Bardet-Biedl syndrome 10 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA239331547 rs113224628 VAR_066259 |
636 | A>V | Bardet-biedl syndrome (bbs) BBS10; associated with T-188 [Ensembl, UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
CA6694084 RCV000552395 rs748647079 |
640 | I>V | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs769028262 RCV000665076 RCV001204836 |
650 | G>missing | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000667159 rs1555202562 |
651 | K>missing | Bardet-Biedl syndrome 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001216227 RCV000410373 rs1057516628 |
655 | P>missing | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6694070 rs766733372 RCV001829911 RCV001243795 |
657 | T>A | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA385808694 rs886049848 RCV001312866 |
658 | Y>C | Variant assessed as Somatic; 0.0 impact. Bardet-Biedl syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000362636 rs886049848 CA10642492 |
658 | Y>F | Bardet-Biedl syndrome 10 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
| VAR_079368 | 658 | Y>del | BBS10; unknown pathological significance [UniProt] | Yes | UniProt |
|
RCV000875201 RCV001111720 rs771355732 CA6694065 |
659 | I>L | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001831080 RCV001342218 rs778614911 CA6694059 |
668 | N>K | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000528260 rs1064796315 RCV000484565 RCV000667693 |
677 | G>missing | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555202553 CA385808462 VAR_026407 RCV000672071 |
677 | G>V | Bardet-Biedl syndrome 10 BBS10; has moderately reduced ability to interact with BBS7 and BBS9 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA6694055 rs756069503 RCV001836306 RCV001321173 |
683 | G>D | Variant assessed as Somatic; 0.0 impact. Bardet-Biedl syndrome 10 Bardet-Biedl syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001224182 rs1951753726 |
684 | K>missing | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_066260 | 687 | L>P | BBS10 [UniProt] | Yes | UniProt |
|
RCV002530655 CA6694052 RCV000665407 VAR_026408 rs759387000 |
689 | T>P | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome BBS10; has moderately reduced ability to interact with BBS7 and BBS9 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs1555202546 RCV000667156 CA385808362 |
693 | Q>* | Bardet-Biedl syndrome 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA385808329 RCV001066249 rs1565809262 |
697 | K>N | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP ClinGen Ensembl |
|
RCV000461059 RCV001731689 rs775950661 RCV001074511 RCV000665753 |
706 | T>* | Bardet-Biedl syndrome 10 Bardet-Biedl syndrome Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1951753208 RCV001328243 |
708 | K>missing | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001246007 CA239331410 rs959224608 |
719 | S>* | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1396450993 CA385816506 |
3 | S>R | No |
ClinGen gnomAD |
|
|
CA6694445 rs774317585 |
5 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs759336617 CA6694446 |
5 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6694442 rs770888491 |
7 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA385816447 rs1216242140 |
8 | A>G | No |
ClinGen gnomAD |
|
|
rs1236391305 CA385816453 |
8 | A>S | No |
ClinGen TOPMed |
|
|
rs762818340 CA6694441 |
9 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1257440721 CA385816443 |
9 | G>R | No |
ClinGen TOPMed |
|
|
rs376359207 CA6694439 |
10 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376359207 CA6694438 |
10 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 13 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1270749102 CA385816395 |
14 | A>G | No |
ClinGen gnomAD |
|
|
CA385816399 rs1344339701 |
14 | A>S | No |
ClinGen gnomAD |
|
|
rs1592493192 CA385816391 |
15 | L>V | No |
ClinGen Ensembl |
|
|
CA385816380 rs1565810471 |
16 | Q>E | No |
ClinGen Ensembl |
|
|
rs1592493190 CA385816355 |
17 | V>G | No |
ClinGen Ensembl |
|
|
rs1001512051 CA239332885 |
19 | E>* | No |
ClinGen Ensembl |
|
|
rs746323439 CA6694435 |
20 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746323439 CA385816329 |
20 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385816317 rs1376927835 |
22 | E>D | No |
ClinGen gnomAD |
|
|
rs757671997 CA385816314 |
23 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs757671997 CA6694433 |
23 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA6694431 rs777470169 |
25 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA385816277 rs1476664656 |
28 | C>* | Bardet-biedl syndrome (bbs) [Ensembl] | No |
ClinGen gnomAD |
|
rs755657515 CA6694430 |
28 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752267054 CA6694429 |
29 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752267054 CA385816275 |
29 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1486182131 CA385816261 |
31 | P>R | Bardet-biedl syndrome (bbs) [Ensembl] | No |
ClinGen TOPMed gnomAD |
|
rs766895183 CA6694428 |
31 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1208975003 CA385816259 |
32 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs896544129 CA385816233 |
36 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA385816209 rs1277439507 |
39 | T>M | No |
ClinGen gnomAD |
|
|
CA385816210 rs1277439507 |
39 | T>R | No |
ClinGen gnomAD |
|
|
CA6694425 rs766405665 |
39 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs773072327 CA6694423 |
42 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs773072327 CA385816194 |
42 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA385816182 rs1310735399 |
44 | E>K | No |
ClinGen gnomAD |
|
|
CA385816172 rs1446825543 |
45 | V>A | No |
ClinGen gnomAD |
|
|
rs1446825543 CA385816171 |
45 | V>G | No |
ClinGen gnomAD |
|
|
rs1375845113 CA385816153 |
48 | S>I | No |
ClinGen TOPMed |
|
|
rs372847207 CA239332849 |
52 | G>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA6694421 rs369568667 |
53 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6694419 rs745942034 |
57 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs573377939 CA6694418 |
58 | L>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1472584639 CA385816090 |
59 | H>R | No |
ClinGen gnomAD |
|
|
CA6694416 rs749658816 |
62 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA239332820 rs374874552 |
62 | H>Y | No |
ClinGen ESP gnomAD |
|
|
CA6694415 rs371540031 |
63 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371540031 CA385816064 |
63 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371540031 CA385816065 |
63 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6694414 rs755814743 |
64 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs780874811 CA6694413 |
66 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1291192594 CA385816048 |
66 | R>K | No |
ClinGen gnomAD |
|
|
CA6694412 rs780874811 |
66 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 67 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1161636895 CA385816032 |
67 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1418082162 CA385816023 |
68 | I>V | No |
ClinGen gnomAD |
|
|
CA6694386 rs529208223 |
70 | D>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs753579130 CA6694384 |
74 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385815980 rs1322290826 |
74 | S>R | No |
ClinGen gnomAD |
|
|
rs767638924 CA6694383 |
76 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6694382 rs759697270 |
77 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA239332581 rs899733320 |
79 | T>A | No |
ClinGen TOPMed |
|
| rs760693838 | 79 | T>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1213286467 CA385815927 |
82 | G>V | No |
ClinGen gnomAD |
|
|
rs762996195 CA6694378 |
85 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs1345089061 CA385815905 |
86 | F>L | No |
ClinGen gnomAD |
|
|
rs1039528080 CA239332564 |
88 | I>V | No |
ClinGen Ensembl |
|
|
CA239332556 rs766138060 |
91 | C>Y | No |
ClinGen Ensembl |
|
|
rs1363160532 CA385815862 |
92 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1363160532 CA385815861 |
92 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA385815826 RCV000722897 rs1565810252 |
97 | L>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs748465517 CA6694375 |
98 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs768441850 CA6694373 |
98 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs776992056 CA6694374 |
98 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs935073352 CA239332538 |
99 | A>E | No |
ClinGen Ensembl |
|
|
rs1259940086 CA385815819 |
99 | A>T | No |
ClinGen TOPMed |
|
|
rs746617882 CA6694372 |
100 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA385815808 rs1436717561 |
101 | T>A | No |
ClinGen gnomAD |
|
|
CA385815809 rs1436717561 |
101 | T>P | No |
ClinGen gnomAD |
|
| rs745497072 | 102 | D>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6694370 rs745374133 |
103 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA6694371 rs779820556 |
103 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA385815790 rs1565810233 |
104 | E>K | No |
ClinGen Ensembl |
|
|
rs1203562421 CA385815787 |
104 | E>V | No |
ClinGen TOPMed |
|
|
rs113821285 CA239332519 |
106 | D>A | No |
ClinGen gnomAD |
|
|
CA239332517 rs113821285 |
106 | D>G | No |
ClinGen gnomAD |
|
|
rs1421500624 CA385815773 |
106 | D>N | No |
ClinGen gnomAD |
|
|
CA385815771 rs113821285 |
106 | D>V | No |
ClinGen gnomAD |
|
| TCGA novel | 107 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA239332514 rs1051916652 |
109 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA239332512 rs969686018 |
113 | I>V | No |
ClinGen gnomAD |
|
|
rs1212536148 CA385815716 |
114 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs147432159 CA6694367 |
115 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs147432159 CA385815708 |
115 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1227445050 CA385815699 |
116 | H>L | No |
ClinGen gnomAD |
|
| TCGA novel | 121 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1174846802 CA385815418 |
124 | S>Y | No |
ClinGen TOPMed |
|
|
rs1592492758 CA385815415 |
125 | R>Q | No |
ClinGen Ensembl |
|
|
CA6694364 rs201194028 |
125 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs751825895 CA6694361 |
128 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs150379771 CA239332486 |
129 | I>F | No |
ClinGen TOPMed |
|
|
CA385815389 rs150379771 |
129 | I>V | No |
ClinGen TOPMed |
|
|
rs1565810183 CA385815377 |
131 | Q>* | No |
ClinGen Ensembl |
|
|
rs1168420508 CA385815367 |
132 | A>D | No |
ClinGen gnomAD |
|
|
CA6694358 rs750446869 |
133 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6694357 rs765675426 |
134 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA6694355 rs776890490 |
135 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 136 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6694352 rs775342373 |
137 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761100835 CA6694353 |
137 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA6694349 rs770799633 |
142 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385815237 rs1267766121 |
143 | G>D | No |
ClinGen TOPMed |
|
|
CA239332442 rs917996045 |
143 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA385815228 rs1338931331 |
144 | I>L | No |
ClinGen gnomAD |
|
|
CA385815210 rs1375584916 |
145 | M>I | No |
ClinGen gnomAD |
|
|
rs144312522 CA385815212 |
145 | M>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1452834165 CA385815218 |
145 | M>V | No |
ClinGen gnomAD |
|
|
rs199998327 CA239332430 |
147 | Q>* | No |
ClinGen 1000Genomes |
|
|
CA6694344 rs780256070 |
147 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA239332418 rs996555270 |
148 | Y>C | No |
ClinGen TOPMed |
|
|
rs1565810142 CA385815178 |
148 | Y>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs758553544 CA6694343 |
149 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385815167 rs1407456627 |
150 | S>G | No |
ClinGen TOPMed |
|
|
rs367914794 CA6694340 |
151 | R>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6694339 rs761766570 |
152 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA385815148 rs1565810126 |
153 | F>I | No |
ClinGen Ensembl |
|
| TCGA novel | 154 | L>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764687344 CA385815134 |
154 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 154 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385815128 rs1318541411 |
155 | S>F | No |
ClinGen gnomAD |
|
|
CA385815127 rs376537053 |
156 | I>F | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1233045182 CA6694334 |
156 | I>M | No |
ClinGen gnomAD |
|
|
rs761190543 CA6694336 |
156 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA239332397 rs376537053 |
156 | I>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA6694332 rs553291328 |
158 | S>L | Variant assessed as Somatic; 0.0 impact. Bardet-biedl syndrome (bbs) [NCI-TCGA, Ensembl] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
| TCGA novel | 159 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385815103 rs1240019487 |
160 | A>S | No |
ClinGen gnomAD |
|
|
rs146788134 CA6694329 |
161 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769648898 CA6694326 |
164 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777752152 CA6694327 |
164 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA385815065 rs1389715061 |
166 | C>R | No |
ClinGen gnomAD |
|
|
rs747945815 CA6694325 |
168 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs1455014106 CA385815043 |
169 | S>P | No |
ClinGen gnomAD |
|
|
rs758578674 CA6694323 |
175 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs758578674 CA385815004 |
175 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA385814996 rs1201605746 |
176 | A>T | No |
ClinGen gnomAD |
|
|
CA6694321 rs556521942 |
181 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA239332355 rs890996897 |
182 | V>L | No |
ClinGen Ensembl |
|
|
CA385814957 rs890996897 |
182 | V>M | No |
ClinGen Ensembl |
|
|
rs371599514 CA6694320 |
184 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385814914 rs1239540905 |
188 | K>I | No |
ClinGen gnomAD |
|
|
CA385814868 rs1287675903 CA385814869 |
194 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs536677412 CA6694317 |
194 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA239332336 rs775747309 |
195 | C>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 201 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753138845 CA239332325 |
203 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1592492542 CA385814800 |
204 | C>S | No |
ClinGen Ensembl |
|
|
CA6694314 rs767957354 |
205 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs900689916 CA239332318 |
206 | S>I | No |
ClinGen TOPMed |
|
|
CA385814768 rs1455652058 |
208 | I>T | No |
ClinGen gnomAD |
|
|
rs1473940135 CA385814772 |
208 | I>V | No |
ClinGen TOPMed |
|
|
rs570935105 CA6694310 |
214 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs570935105 CA385814727 |
214 | V>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA385814728 rs1385065544 |
214 | V>M | No |
ClinGen TOPMed |
|
|
CA6694309 rs772647950 |
215 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA239332300 rs1052658727 |
216 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA6694307 rs748037727 |
216 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6694308 rs769742141 |
216 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1316090880 CA385814700 |
218 | F>Y | No |
ClinGen TOPMed |
|
|
rs557802902 CA6694306 |
219 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs557802902 CA385814696 |
219 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA385814688 rs1453029692 |
220 | E>A | No |
ClinGen TOPMed |
|
|
rs746764883 CA6694304 |
223 | V>I | No |
ClinGen ExAC |
|
|
rs779263859 CA6694303 |
224 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385814644 rs1220264476 |
227 | G>V | No |
ClinGen gnomAD |
|
|
RCV001311000 rs1230692815 |
229 | P>L | No |
ClinVar dbSNP |
|
|
rs1230692815 CA385814631 |
229 | P>R | No |
ClinGen TOPMed |
|
|
CA6694300 rs777951931 |
231 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA239332274 rs902790155 |
233 | S>T | No |
ClinGen TOPMed |
|
|
CA6694299 rs534432274 |
234 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs753300319 CA385814601 |
234 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs565821152 CA6694297 |
235 | I>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA385814592 rs1042330208 |
236 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1193290653 CA385814589 |
236 | I>M | No |
ClinGen gnomAD |
|
|
rs755435663 CA6694296 |
236 | I>R | No |
ClinGen ExAC gnomAD |
|
|
rs1042330208 CA239332264 |
236 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1475668642 CA385814582 |
238 | G>S | No |
ClinGen gnomAD |
|
|
rs76373619 CA239332260 |
242 | Q>K | No |
ClinGen Ensembl |
|
|
CA385814555 rs1239367944 |
242 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs924994843 CA239332256 |
244 | D>Y | No |
ClinGen Ensembl |
|
|
rs1204931642 CA385814476 |
248 | Y>C | No |
ClinGen TOPMed |
|
|
rs1242888821 CA385814468 |
249 | R>C | No |
ClinGen TOPMed |
|
| TCGA novel | 251 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385814385 rs1199655775 |
253 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1233603891 CA385814331 |
255 | M>T | No |
ClinGen gnomAD |
|
|
CA385814320 rs1156913215 |
256 | R>G | No |
ClinGen TOPMed |
|
|
rs761289252 CA6694289 |
256 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1055657204 CA239332229 |
257 | M>I | No |
ClinGen TOPMed |
|
|
CA385814306 rs776605691 |
257 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776605691 CA6694288 |
257 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385814265 rs1448754283 |
258 | V>A | No |
ClinGen TOPMed |
|
|
rs1307181313 CA385814247 |
260 | V>I | No |
ClinGen TOPMed |
|
|
CA6694286 rs746826888 |
263 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 263 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385814172 rs1236502453 |
264 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs775090151 CA239332225 |
265 | Q>* | Bardet-biedl syndrome (bbs) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6694285 rs775090151 |
265 | Q>E | Bardet-biedl syndrome (bbs) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
rs771207018 CA6694284 |
265 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs749484934 CA6694283 |
266 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA6694282 rs778114428 |
266 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1416258794 CA385814115 |
267 | L>F | No |
ClinGen gnomAD |
|
|
rs1592492358 CA385814099 |
267 | L>P | No |
ClinGen Ensembl |
|
|
rs770050659 CA6694281 CA385814076 |
268 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC TOPMed gnomAD NCI-TCGA |
|
CA6694280 rs748228590 |
270 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385814049 rs1180521155 |
271 | S>C | No |
ClinGen gnomAD |
|
|
CA385814022 rs781723681 |
272 | G>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 274 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755379647 CA6694278 |
276 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA385813963 rs1263086773 |
277 | L>Q | No |
ClinGen TOPMed |
|
|
CA385813933 rs1214116913 |
280 | E>* | No |
ClinGen gnomAD |
|
|
rs1323259386 CA385813930 |
280 | E>G | No |
ClinGen gnomAD |
|
|
rs780236847 CA6694276 |
281 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 282 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750124902 CA6694274 |
284 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6694273 rs764854821 |
287 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA6694272 rs761377435 |
287 | Q>R | No |
ClinGen ExAC |
|
|
rs1331207632 CA385813837 |
292 | E>* | No |
ClinGen gnomAD |
|
|
rs907797872 CA239332172 |
293 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA6694270 rs764108398 |
294 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 295 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1163017797 CA385813772 |
297 | I>V | No |
ClinGen gnomAD |
|
|
CA385813716 rs775386507 |
300 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA6694268 rs775386507 |
300 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs771807318 CA6694267 |
302 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA239332161 rs954562822 |
302 | H>Y | No |
ClinGen TOPMed |
|
|
rs1565809903 CA385813649 |
305 | N>D | No |
ClinGen Ensembl |
|
|
CA385813626 rs1437849346 |
307 | K>Q | No |
ClinGen gnomAD |
|
|
CA385813588 rs1237540801 |
309 | L>P | No |
ClinGen gnomAD |
|
|
CA385813577 rs1191670765 |
310 | I>L | No |
ClinGen gnomAD |
|
|
rs371561184 CA239332138 |
318 | L>F | No |
ClinGen ESP gnomAD |
|
|
CA6694261 rs781080674 |
318 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747510579 CA6694259 |
319 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA6694260 rs769233464 |
319 | V>L | No |
ClinGen ExAC |
|
| TCGA novel | 322 | Y>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750780350 CA6694254 |
322 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA385813380 rs1370285432 |
322 | Y>H | No |
ClinGen gnomAD |
|
|
rs1361435325 CA385813340 |
324 | G>E | No |
ClinGen gnomAD |
|
|
CA385813343 rs1230336872 |
324 | G>R | No |
ClinGen TOPMed |
|
|
rs1300246858 CA385813328 |
325 | V>A | No |
ClinGen gnomAD |
|
|
CA385813336 rs1252250857 |
325 | V>M | No |
ClinGen TOPMed |
|
|
rs1339186756 CA385813318 |
326 | N>S | No |
ClinGen TOPMed |
|
|
CA385813295 rs1417977706 |
328 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA385813271 rs1379758877 |
330 | V>M | No |
ClinGen gnomAD |
|
|
CA385813230 rs756848031 |
332 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1490514083 CA385813206 |
334 | L>S | No |
ClinGen TOPMed |
|
| TCGA novel | 335 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6694251 rs753411602 |
336 | S>P | No |
ClinGen ExAC |
|
|
rs763472473 CA6694250 |
337 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6694249 rs752630373 |
337 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6694248 rs752630373 |
337 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385813152 rs1488468781 |
338 | E>G | No |
ClinGen gnomAD |
|
|
rs767552027 CA6694247 |
338 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs759474648 CA6694244 |
343 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6694242 rs550120113 |
344 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6694241 rs761897354 |
345 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1341482733 CA385813047 |
346 | I>M | No |
ClinGen gnomAD |
|
|
rs530892122 CA6694239 |
346 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200605410 CA6694240 |
346 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6694237 rs775926390 |
347 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs747097629 CA6694238 |
347 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs747097629 CA385813044 |
347 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA385813009 rs1303507089 |
350 | P>T | No |
ClinGen gnomAD |
|
|
rs779201114 CA6694234 |
352 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA385812935 rs1175245460 |
356 | A>T | No |
ClinGen gnomAD |
|
|
rs748933585 CA6694232 |
358 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA6694229 rs767572725 |
359 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6694228 rs767572725 |
359 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1565809819 CA385812851 |
361 | E>* | No |
ClinGen Ensembl |
|
| TCGA novel | 366 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385812758 rs1565809814 |
367 | L>F | No |
ClinGen Ensembl |
|
|
rs754911313 CA6694227 |
368 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA239332068 rs947783482 |
371 | C>R | No |
ClinGen Ensembl |
|
|
rs920028641 CA239332065 |
372 | K>R | No |
ClinGen TOPMed |
|
|
rs766313616 CA385812696 |
373 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA385812689 rs1565809805 |
373 | P>L | No |
ClinGen Ensembl |
|
|
rs766313616 CA6694225 |
373 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs766313616 CA6694226 |
373 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1289641509 CA385812673 |
375 | I>F | No |
ClinGen TOPMed |
|
|
rs762785764 CA385812666 |
375 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385812675 rs1289641509 |
375 | I>V | No |
ClinGen TOPMed |
|
|
CA239332059 VAR_026402 rs11109474 |
376 | L>F | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA6694222 rs776775792 |
377 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385812600 rs1217115736 |
381 | Y>C | No |
ClinGen gnomAD |
|
|
CA6694219 rs772592573 |
383 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746334861 CA6694218 |
385 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA6694216 rs138702315 |
386 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1168307743 CA385812550 |
387 | I>L | No |
ClinGen gnomAD |
|
|
CA385812542 rs1423605869 |
387 | I>M | No |
ClinGen TOPMed |
|
|
CA6694214 rs777358585 |
390 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs371878955 CA6694212 |
390 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA385812444 rs1289890768 |
395 | H>D | No |
ClinGen TOPMed |
|
|
CA385812408 rs1200629817 |
396 | S>A | No |
ClinGen gnomAD |
|
|
rs867485840 CA385812402 |
396 | S>C | No |
ClinGen Ensembl |
|
|
rs867485840 CA239332011 |
396 | S>F | No |
ClinGen Ensembl |
|
|
CA6694209 rs202042386 |
397 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370079788 CA239331996 |
398 | V>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1178651478 CA385812353 |
399 | L>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs754502448 CA6694208 |
405 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs766405505 CA6694206 |
406 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385812213 rs766405505 |
406 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750164736 CA385812186 |
407 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6694204 rs750164736 |
407 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385812195 rs1320060029 |
407 | I>V | No |
ClinGen gnomAD |
|
|
CA6694203 rs764234716 |
409 | Q>E | No |
ClinGen ExAC |
|
|
rs760904517 CA6694202 |
411 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1413288461 CA385812108 |
412 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA385812019 rs1445827173 |
416 | G>E | No |
ClinGen gnomAD |
|
|
CA6694200 rs757989987 |
418 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA385811964 rs1456073762 |
419 | K>N | No |
ClinGen gnomAD |
|
|
rs1164689650 CA385811982 |
419 | K>R | No |
ClinGen gnomAD |
|
|
rs201172547 CA385811924 |
421 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA239331941 rs201172547 |
421 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA385811927 rs201172547 |
421 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA239331933 rs375746803 |
422 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1018909711 CA239331924 |
426 | K>R | No |
ClinGen TOPMed |
|
|
CA239331917 rs1002214668 |
427 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA385811807 rs1002214668 |
427 | D>N | No |
ClinGen TOPMed |
|
|
rs1177285443 CA385811748 |
429 | D>V | No |
ClinGen gnomAD |
|
| TCGA novel | 430 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385811672 rs987403283 |
433 | M>L | No |
ClinGen TOPMed |
|
|
rs987403283 CA239331912 |
433 | M>V | No |
ClinGen TOPMed |
|
|
CA6694196 rs763234261 |
434 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs773574616 CA6694195 |
435 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773574616 CA239331906 |
435 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1487632319 CA385811632 |
436 | T>A | No |
ClinGen gnomAD |
|
|
CA385811623 rs1466271924 |
436 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA6694194 rs141080440 |
437 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1355908139 CA385811519 |
441 | G>S | No |
ClinGen gnomAD |
|
|
CA6694191 rs780966013 |
442 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1031366325 CA239331891 |
444 | S>N | No |
ClinGen Ensembl |
|
|
CA385811455 rs199878555 |
445 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1389599028 | 446 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385811447 rs1331549514 |
446 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1325281983 CA385811442 |
446 | F>S | No |
ClinGen gnomAD |
|
|
CA6694189 rs746513661 |
448 | Y>C | No |
ClinGen ExAC |
|
|
CA385811412 rs746513661 |
448 | Y>F | No |
ClinGen ExAC |
|
|
rs780142293 CA6694187 |
450 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6694186 rs758296848 |
451 | S>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs750208581 CA6694185 |
453 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 454 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385811333 rs1592491908 |
455 | Y>C | No |
ClinGen Ensembl |
|
|
CA385811328 rs1481144475 |
456 | Q>E | No |
ClinGen TOPMed |
|
|
rs1188005773 CA385811316 |
457 | A>V | No |
ClinGen gnomAD |
|
|
rs752966705 CA6694182 |
458 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs752966705 CA385811314 |
458 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1489342987 CA385811245 |
468 | P>L | No |
ClinGen gnomAD |
|
|
CA385811241 rs1332595834 |
469 | Y>S | No |
ClinGen TOPMed |
|
| TCGA novel | 470 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6694179 rs751574303 |
470 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 471 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385811193 rs1278523393 |
476 | N>K | No |
ClinGen gnomAD |
|
|
rs770239827 CA6694175 |
476 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6694176 rs138215518 |
476 | N>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6694174 rs762251582 |
478 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1358172211 CA385811174 |
479 | A>P | No |
ClinGen gnomAD |
|
|
CA385811166 rs1174795074 |
480 | L>F | No |
ClinGen gnomAD |
|
|
CA6694170 rs779567118 |
481 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385811146 rs1322710550 |
483 | T>N | No |
ClinGen TOPMed |
|
|
CA385811145 rs1322710550 |
483 | T>S | No |
ClinGen TOPMed |
|
|
CA239331809 rs966837486 |
484 | Q>L | No |
ClinGen TOPMed |
|
|
CA385811126 rs1429011304 |
486 | Y>C | No |
ClinGen gnomAD |
|
|
rs939024065 CA239331802 |
487 | L>F | No |
ClinGen Ensembl |
|
|
CA239331798 rs1021050605 |
488 | K>R | No |
ClinGen TOPMed |
|
|
rs745860265 CA385811106 |
489 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA6694167 rs745860265 |
489 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs745860265 CA385811105 |
489 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1478926935 CA385811108 |
489 | V>I | No |
ClinGen gnomAD |
|
|
CA385811101 rs1203318844 |
490 | H>P | No |
ClinGen TOPMed |
|
|
CA239331776 rs961208138 |
493 | L>S | No |
ClinGen TOPMed |
|
|
rs1199528511 CA385811071 |
495 | I>L | No |
ClinGen TOPMed |
|
|
CA239331767 rs753629989 |
497 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6694163 rs754529978 |
502 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs751664217 CA6694161 |
503 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs56867176 CA6694160 |
505 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs577177579 CA6694157 |
508 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA239331733 rs557474406 |
508 | T>I | No |
ClinGen 1000Genomes TOPMed |
|
|
CA385810983 rs1565809558 |
509 | P>S | No |
ClinGen Ensembl |
|
|
rs777077443 CA6694154 |
513 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs763861552 CA6694153 |
514 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs760364553 CA6694152 |
514 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6694149 rs745357628 |
518 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA6694147 rs373327878 |
520 | V>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6694146 rs201962535 |
521 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA6694145 rs572088920 |
522 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA239331700 rs901748236 |
523 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1222856880 CA385810872 |
527 | S>F | No |
ClinGen TOPMed |
|
|
rs755869502 CA6694144 |
527 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385810852 rs1592491721 |
530 | R>K | No |
ClinGen Ensembl |
|
|
CA385810836 rs1332608574 |
532 | R>S | No |
ClinGen gnomAD |
|
|
rs1592491704 CA385810832 |
533 | L>Q | No |
ClinGen Ensembl |
|
|
rs1219586909 CA6694139 |
535 | D>N | No |
ClinGen Ensembl |
|
|
CA6694138 rs765785183 |
536 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 540 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6694135 rs761098896 |
541 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA385810745 rs1444034224 |
543 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA385810735 rs1180425252 |
544 | N>D | No |
ClinGen gnomAD |
|
|
CA385810719 rs1221945074 |
545 | S>C | No |
ClinGen gnomAD |
|
|
CA385810718 rs1221945074 |
545 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs759094404 CA6694133 |
545 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs773678745 CA6694132 |
547 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA385810645 rs1469496978 |
553 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA385810545 rs1279346412 |
560 | E>D | No |
ClinGen gnomAD |
|
|
rs1437587155 CA385810535 |
561 | N>S | No |
ClinGen gnomAD |
|
|
CA6694122 rs111773727 |
562 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs111773727 CA6694121 |
562 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754445290 CA6694120 |
565 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs144402299 CA6694119 |
566 | N>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA385810487 rs144402299 |
566 | N>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs534742665 CA239331651 |
568 | T>A | No |
ClinGen Ensembl |
|
|
rs1313956993 CA385810422 |
570 | K>R | No |
ClinGen TOPMed |
|
|
CA6694117 rs752941157 |
571 | G>* | No |
ClinGen ExAC gnomAD |
|
|
rs1478873097 CA385810396 |
571 | G>V | No |
ClinGen gnomAD |
|
|
rs1356597939 CA385810383 |
572 | S>N | No |
ClinGen TOPMed |
|
|
rs767215329 CA6694116 |
573 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1221274970 CA385810332 |
575 | P>T | No |
ClinGen gnomAD |
|
|
CA6694115 rs200460631 |
579 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385810215 rs762432475 |
581 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1453771610 CA385810219 |
581 | P>S | No |
ClinGen gnomAD |
|
|
rs1341283904 CA385810138 |
584 | G>D | No |
ClinGen gnomAD |
|
|
rs199660040 CA6694110 |
584 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1300149950 CA385810090 |
586 | S>C | No |
ClinGen gnomAD |
|
|
rs1300149950 CA385810088 |
586 | S>F | No |
ClinGen gnomAD |
|
|
rs1344583880 CA385810076 |
587 | Q>E | No |
ClinGen gnomAD |
|
|
CA385810066 rs1446842421 |
587 | Q>R | No |
ClinGen TOPMed |
|
|
rs1176661326 CA385810017 |
589 | Y>D | No |
ClinGen gnomAD |
|
|
CA6694108 rs776239463 |
590 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA6694106 rs746115422 |
593 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs779256966 CA6694105 |
594 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA385809901 rs1264836197 |
597 | G>V | No |
ClinGen gnomAD |
|
|
rs771193243 CA6694104 |
599 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs529413005 CA239331622 |
599 | V>I | No |
ClinGen 1000Genomes gnomAD |
|
|
rs749376469 CA6694103 |
600 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs756523417 CA6694101 |
603 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs17852416 CA239331605 |
607 | E>D | No |
ClinGen Ensembl |
|
|
CA16606610 RCV000420888 rs1057523787 |
608 | I>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs376793096 CA6694099 |
609 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1160359390 CA385809737 |
609 | L>W | No |
ClinGen TOPMed |
|
|
rs766007476 CA6694097 |
616 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1450144958 CA385809561 |
616 | N>K | No |
ClinGen gnomAD |
|
|
CA6694096 rs148407400 |
616 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749876979 CA6694095 |
617 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs761615380 CA6694093 |
620 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs367605988 CA6694094 |
620 | K>T | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 622 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6694092 rs776598622 |
622 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA385809386 rs1338320125 |
623 | Q>R | No |
ClinGen TOPMed |
|
|
CA385809273 rs1370539050 |
627 | T>N | No |
ClinGen gnomAD |
|
|
CA6694090 rs760505134 |
628 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6694089 rs774783659 |
629 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA385809210 rs1241783693 |
630 | S>N | No |
ClinGen gnomAD |
|
|
CA385809220 rs1463074115 |
630 | S>R | No |
ClinGen gnomAD |
|
|
rs1301269291 CA385809185 |
631 | M>T | No |
ClinGen gnomAD |
|
|
rs1279599104 CA385809192 |
631 | M>V | No |
ClinGen TOPMed |
|
|
CA239331557 rs777267191 |
632 | I>T | No |
ClinGen TOPMed |
|
|
rs12099880 CA385809125 |
634 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA239331554 rs12099880 |
634 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs749395064 CA6694087 |
635 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1204724868 CA385809093 |
636 | A>T | No |
ClinGen TOPMed |
|
|
CA6694086 rs777954013 |
637 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1242982068 CA385809071 |
637 | L>R | No |
ClinGen TOPMed |
|
|
CA385809052 rs1440906467 |
639 | G>S | No |
ClinGen TOPMed |
|
|
rs143062348 CA6694082 |
642 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1156812402 CA385808976 |
643 | V>A | No |
ClinGen TOPMed |
|
|
rs747305207 CA6694081 |
643 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6694079 rs757995171 |
646 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1399843207 CA385808905 |
646 | K>N | No |
ClinGen TOPMed |
|
|
CA239331520 rs1039195285 |
647 | S>A | No |
ClinGen Ensembl |
|
|
CA385808878 rs1392747109 |
648 | K>E | No |
ClinGen TOPMed |
|
|
CA239331513 rs913635172 |
648 | K>I | No |
ClinGen TOPMed gnomAD |
|
|
CA385808860 rs764694032 |
649 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 649 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764694032 CA6694077 |
649 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA6694076 rs756768992 |
650 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA6694074 rs753778677 |
652 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs138456137 CA6694072 |
655 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1056258312 CA239331491 |
655 | P>S | No |
ClinGen TOPMed |
|
|
rs1480448282 CA385808717 |
656 | H>P | No |
ClinGen gnomAD |
|
|
CA6694071 rs775369008 |
656 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6694068 rs773540960 |
657 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773540960 CA6694069 |
657 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1224886592 CA385808698 |
658 | Y>D | No |
ClinGen gnomAD |
|
|
CA6694066 rs771355732 |
659 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs747395215 CA6694063 |
660 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1197727632 CA385808656 |
661 | A>V | No |
ClinGen TOPMed |
|
|
CA6694062 rs780356114 |
663 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1390552126 CA385808640 |
663 | H>Y | No |
ClinGen gnomAD |
|
|
CA385808576 rs142140276 |
668 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6694060 rs142140276 |
668 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6694058 rs756784644 |
669 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA6694057 rs753323987 |
671 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA385808535 rs1366017380 |
672 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 674 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385808496 rs1180136732 |
674 | S>T | No |
ClinGen gnomAD |
|
|
rs555921898 CA239331456 |
678 | L>W | No |
ClinGen Ensembl |
|
|
CA385808406 rs752574665 |
685 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA6694053 rs767464284 |
688 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA385808382 rs1238112396 |
690 | S>A | No |
ClinGen gnomAD |
|
|
rs1555202544 CA385808355 RCV000518048 |
694 | C>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA6694051 rs773369813 |
694 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA385808339 rs1480702838 |
696 | T>R | No |
ClinGen TOPMed |
|
|
rs765430406 CA6694050 |
698 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385808321 rs1344405517 |
699 | L>V | No |
ClinGen gnomAD |
|
|
rs1420934523 CA385808294 |
703 | M>V | No |
ClinGen gnomAD |
|
|
CA239331423 rs980951815 |
705 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
RCV000593068 rs1555202541 |
708 | K>missing | No |
ClinVar dbSNP |
|
|
CA385808257 rs1193044301 |
708 | K>R | No |
ClinGen gnomAD |
|
|
CA6694046 rs202134724 |
711 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
RCV000598549 rs1555202538 |
713 | K>missing | No |
ClinVar dbSNP |
|
|
rs769179905 VAR_066261 CA241800 RCV000175946 |
715 | H>R | No |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
|
rs1201955668 CA385808200 |
716 | N>S | No |
ClinGen gnomAD |
|
|
CA239331406 rs1034845818 |
721 | D>N | No |
ClinGen Ensembl |
|
|
CA239331396 rs1003705267 |
723 | L>V | No |
ClinGen gnomAD |
1 associated diseases with Q8TAM1
[MIM: 615987]: Bardet-Biedl syndrome 10 (BBS10)
A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. {ECO:0000269|PubMed:16582908, ECO:0000269|PubMed:16823392, ECO:0000269|PubMed:20080638, ECO:0000269|PubMed:20120035, ECO:0000269|PubMed:21344540, ECO:0000269|PubMed:23219996, ECO:0000269|PubMed:28808579}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. {ECO:0000269|PubMed:16582908, ECO:0000269|PubMed:16823392, ECO:0000269|PubMed:20080638, ECO:0000269|PubMed:20120035, ECO:0000269|PubMed:21344540, ECO:0000269|PubMed:23219996, ECO:0000269|PubMed:28808579}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for Q8TAM1
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q8TAM1 | |||
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| cilium | A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| RNA polymerase II-specific DNA-binding transcription factor binding | Binding to a sequence-specific DNA binding RNA polymerase II transcription factor, any of the factors that interact selectively and non-covalently with a specific DNA sequence in order to modulate transcription. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| chaperone-mediated protein complex assembly | The aggregation, arrangement and bonding together of a set of components to form a protein complex, mediated by chaperone molecules that do not form part of the finished complex. |
| non-motile cilium assembly | The aggregation, arrangement and bonding together of a set of components to form a non-motile cilium. |
| photoreceptor cell maintenance | Any process preventing the degeneration of the photoreceptor, a specialized cell type that is sensitive to light. |
| regulation of protein-containing complex assembly | Any process that modulates the frequency, rate or extent of protein complex assembly. |
| response to stimulus | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus and ends with a change in state or activity or the cell or organism. |
| visual perception | The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P11983 | Tcp1 | T-complex protein 1 subunit alpha | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLSSMAAAGS | VKAALQVAEV | LEAIVSCCVG | PEGRQVLCTK | PTGEVLLSRN | GGRLLEALHL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EHPIARMIVD | CVSSHLKKTG | DGAKTFIIFL | CHLLRGLHAI | TDREKDPLMC | ENIQTHGRHW |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KNCSRWKFIS | QALLTFQTQI | LDGIMDQYLS | RHFLSIFSSA | KERTLCRSSL | ELLLEAYFCG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RVGRNNHKFI | SQLMCDYFFK | CMTCKSGIGV | FELVDDHFVE | LNVGVTGLPV | SDSRIIAGLV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LQKDFSVYRP | ADGDMRMVIV | TETIQPLFST | SGSEFILNSE | AQFQTSQFWI | MEKTKAIMKH |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LHSQNVKLLI | SSVKQPDLVS | YYAGVNGISV | VECLSSEEVS | LIRRIIGLSP | FVPPQAFSQC |
| 370 | 380 | 390 | 400 | 410 | 420 |
| EIPNTALVKF | CKPLILRSKR | YVHLGLISTC | AFIPHSIVLC | GPVHGLIEQH | EDALHGALKM |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LRQLFKDLDL | NYMTQTNDQN | GTSSLFIYKN | SGESYQAPDP | GNGSIQRPYQ | DTVAENKDAL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| EKTQTYLKVH | SNLVIPDVEL | ETYIPYSTPT | LTPTDTFQTV | ETLTCLSLER | NRLTDYYEPL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LKNNSTAYST | RGNRIEISYE | NLQVTNITRK | GSMLPVSCKL | PNMGTSQSYL | SSSMPAGCVL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| PVGGNFEILL | HYYLLNYAKK | CHQSEETMVS | MIIANALLGI | PKVLYKSKTG | KYSFPHTYIR |
| 670 | 680 | 690 | 700 | 710 | 720 |
| AVHALQTNQP | LVSSQTGLES | VMGKYQLLTS | VLQCLTKILT | IDMVITVKRH | PQKVHNQDSE |
| DEL |