Q8NB90
PR
Gene name |
SPATA5 |
Protein name |
Ribosome biogenesis protein SPATA5 |
Names |
Spermatogenesis-associated factor protein, Spermatogenesis-associated protein 5 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:166378 |
EC number |
3.6.4.10: Acting on ATP; involved in cellular and subcellular movement |
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 Q8NB90
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8NB90-F1 | Predicted | AlphaFoldDB |
793 variants for Q8NB90
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs552219028 RCV000652795 RCV000823008 RCV000185657 |
1 | M>L | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000530676 rs765170329 RCV000993083 |
1 | M>T | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs552219028 RCV000809628 |
1 | M>V | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001301686 rs1728160251 |
5 | K>E | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA104805188 TCGA novel rs766206272 RCV001352192 |
5 | K>N | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD NCI-TCGA |
|
RCV001262614 rs1432376693 |
5 | K>missing | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3070112 RCV002561726 RCV001209994 rs751349548 |
6 | N>D | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000686710 rs1560780127 CA358097123 |
22 | S>C | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001069156 rs139156024 CA3070119 |
24 | A>G | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs375140705 CA3070121 RCV001064486 |
26 | S>C | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs35430470 VAR_042703 CA3070122 RCV000713502 RCV000558475 |
27 | C>S | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001216018 rs769355729 |
31 | R>Q | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001351649 rs376956304 CA3070126 |
33 | P>S | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
CA3070132 RCV001069355 rs367922082 |
42 | T>A | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001237151 rs1728175526 |
43 | S>C | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA358097378 rs1447532850 RCV001043836 |
43 | S>T | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000815624 CA358097410 rs1188216410 |
45 | T>A | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA3070156 RCV001065237 rs753970347 |
61 | K>N | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001037685 rs1728492713 |
69 | H>Q | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001070535 rs201699296 CA3070159 |
69 | H>R | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA358099253 rs1311055750 RCV000819039 |
75 | M>V | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs938471150 RCV001224316 CA104808257 |
76 | K>Q | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA3070163 rs755797663 RCV000809106 |
77 | S>A | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001206039 rs1262766068 CA358099341 |
80 | I>T | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001067932 rs1728495318 |
80 | I>V | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001047627 rs773729755 CA3070167 |
84 | R>* | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA312165 rs745858366 RCV000185658 RCV000698542 VAR_075775 |
84 | R>Q | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome Variant assessed as Somatic; 0.0 impact. NEDHSB [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1728497805 RCV001241090 |
89 | T>S | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA312159 rs796051893 VAR_075776 RCV000505721 |
90 | S>I | Variant assessed as Somatic; impact. NEDHSB [NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt NCI-TCGA dbSNP gnomAD |
|
rs758521022 CA3070170 RCV000704843 |
93 | G>R | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome Variant assessed as Somatic; 4.627e-05 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000192647 CA205606 VAR_075777 rs796051895 |
100 | A>T | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome NEDHSB [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA104809074 rs916236528 RCV001324111 RCV001773648 |
105 | G>A | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001048199 rs369201362 CA3070190 |
110 | K>R | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001662602 RCV000545429 rs150058325 CA3070198 |
123 | V>L | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1220351376 RCV001091377 CA358100087 RCV000578372 |
132 | Q>* | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
| VAR_086543 | 132 | Q>del | NEDHSB [UniProt] | Yes | UniProt |
|
RCV001342443 COSM3728326 CA3070199 rs756965142 |
133 | P>L | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3070200 RCV000815322 rs778362935 |
137 | A>V | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000811169 rs749960674 CA3070201 |
139 | L>Q | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1728590350 RCV001217459 |
141 | A>missing | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001569043 RCV002527916 CA3070207 rs374771569 RCV000529905 |
146 | V>M | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA3070235 RCV001068084 rs772580612 |
155 | I>V | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs369894784 RCV001339879 CA3070238 |
162 | G>S | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC dbSNP gnomAD |
|
rs1728912756 RCV001760211 RCV001223237 |
179 | L>V | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3070271 RCV001587226 rs753587518 RCV001208165 |
185 | G>E | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000194235 rs796052095 CA208284 |
186 | R>* | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000821221 RCV001544585 rs746128411 CA3070274 |
187 | P>L | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs377611654 RCV001315695 CA104812876 |
189 | K>R | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs770353140 CA3070282 RCV001244845 |
194 | R>* | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000705564 rs377137936 CA104812937 |
201 | M>V | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
RCV001350414 rs1728922371 |
206 | P>T | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3070290 RCV000696538 rs139066705 |
213 | D>N | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001297251 rs1019930983 CA104812986 |
215 | Q>R | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000796477 CA3070292 rs533234061 |
217 | M>V | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000652803 rs1553955672 CA358101770 |
221 | Q>* | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000819771 CA3070295 rs143998697 |
222 | S>F | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001313532 CA3070301 rs146442339 |
232 | S>P | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs775269863 RCV000578452 CA358101855 |
234 | Q>* | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3070303 rs775269863 RCV001345540 |
234 | Q>E | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA358101854 RCV001766623 rs775269863 RCV000791756 |
234 | Q>K | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1728933023 RCV001318056 |
245 | I>S | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1295604845 RCV000707233 CA358101938 |
247 | T>A | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA358101991 rs1447745763 RCV001206806 |
255 | P>Q | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA358101988 rs1405585813 RCV001339423 |
255 | P>T | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA3070315 RCV000538148 RCV001675931 RCV001288012 rs55643281 |
256 | I>T | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001085739 rs143384152 CA3070314 RCV000713500 |
256 | I>V | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA358102013 RCV001040962 rs1207728430 |
258 | D>E | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000697239 rs200105631 CA3070318 |
260 | I>V | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1728940158 RCV001221253 |
262 | N>missing | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001202064 CA3070323 rs776146045 |
267 | V>I | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001592825 RCV002534181 CA3070327 RCV000652797 rs150370442 |
277 | D>V | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001333560 rs1728945931 |
283 | L>V | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs568838818 RCV000817356 CA3070336 RCV001797147 |
297 | R>G | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3070339 RCV000536784 RCV001662603 rs75871497 |
299 | G>V | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA358102420 RCV001351981 rs1439817941 |
300 | N>S | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001244916 rs1728953871 |
313 | S>R | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs796051889 CA312153 RCV002043571 RCV002548913 |
314 | I>V | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1728955636 RCV001066907 |
319 | N>S | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001045711 CA358102767 rs1380249629 |
324 | Y>F | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1728957836 RCV001238770 |
327 | S>C | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000578291 RCV000190122 rs796052243 |
330 | T>missing | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_075778 | 330 | T>del | NEDHSB; impaired maturation of pre-60S ribosome [UniProt] | Yes | UniProt |
|
CA358102902 rs1475303519 RCV000824217 |
333 | N>S | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1416317921 CA358102936 RCV001040464 |
335 | T>I | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1728961214 RCV001351647 |
336 | E>K | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001040838 rs1050800969 CA104813569 |
344 | Q>* | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1578528119 RCV000808086 |
347 | Q>missing | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA358103062 RCV001332947 rs1402696275 |
347 | Q>K | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA358103071 RCV001222021 rs757810366 |
348 | F>L | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001325555 CA104813588 rs953086848 |
349 | K>E | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs146372781 CA3070354 RCV000652806 RCV001592826 |
349 | K>R | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000700104 CA358103084 rs1286156167 |
350 | V>E | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001213285 CA358103127 rs751213743 |
355 | I>R | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000254906 rs755744719 CA3070359 RCV002500962 |
357 | G>* | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001238772 RCV000413360 rs751291521 |
357 | G>* | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs777369480 CA3070361 RCV001212581 |
359 | S>G | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001352021 rs1019101272 CA358103183 |
360 | S>N | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA358103229 RCV001222556 rs1560792999 |
364 | A>V | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000544025 CA104813695 rs972337890 |
367 | E>V | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs919461238 RCV001338829 CA104813718 |
374 | K>R | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1553955916 RCV000652798 CA358103397 |
378 | L>R | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001046466 CA358103435 rs1237325691 |
381 | S>T | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000687469 CA3070384 rs780025409 |
384 | I>T | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA358103591 rs1553956091 RCV000533028 |
385 | P>L | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001760263 rs1729040562 RCV001239711 |
386 | A>T | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs201751275 RCV001091378 CA312167 RCV000652805 |
387 | P>S | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1729041877 RCV001262406 |
390 | V>G | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA358103972 rs1171191374 RCV001202504 |
408 | A>T | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1729046327 RCV001350358 |
411 | V>F | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs780078610 CA3070400 RCV001346024 |
426 | K>T | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA358105054 RCV001237103 rs1247048378 |
436 | R>C | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001219496 CA104815137 COSM3781921 rs879782394 |
445 | R>* | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome pancreas [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
CA3070426 rs372616063 RCV001053102 |
445 | R>Q | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA3070438 RCV001219099 rs536233030 |
446 | H>Y | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
VAR_075779 rs766034355 CA206522 RCV000193200 |
448 | S>L | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome NEDHSB [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA358105971 RCV000699434 rs1175885311 |
449 | I>V | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs752448565 RCV000815115 CA3070445 |
460 | P>L | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001298552 rs754102221 CA3070449 |
467 | N>S | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001048464 rs374480184 CA104821429 |
472 | R>S | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
rs1729204667 RCV001322490 |
473 | V>L | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA358106353 RCV000816158 rs1352778644 |
478 | L>S | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs769181441 RCV000536240 CA3070456 |
481 | M>L | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_075780 | 488 | V>L | NEDHSB [UniProt] | Yes | UniProt |
|
RCV001054742 rs1730074710 |
495 | V>A | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1387106355 RCV001301922 |
499 | T>P | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000993079 rs770721082 RCV001324356 CA3070477 |
500 | N>D | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000652801 CA3070478 rs148135198 |
501 | R>H | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001304887 rs759111245 CA3070479 |
502 | P>L | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001228202 rs1730077184 |
503 | H>P | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1730078599 RCV001035015 |
508 | A>T | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001316409 rs763950506 CA3070483 |
508 | A>V | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1730079067 RCV001055062 |
509 | L>F | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs267600009 RCV001203983 CA3070485 RCV002253208 |
510 | R>* | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA358108193 rs1446807404 COSM1050756 RCV001061998 |
514 | R>* | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome Variant assessed as Somatic; 0.0 impact. endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA104829687 rs897870081 RCV001312987 |
521 | I>T | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA3070488 rs758525794 RCV001214118 |
522 | G>R | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs796051891 RCV000195144 |
525 | N>missing | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001340852 CA3070490 rs150684555 |
525 | N>S | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001215493 rs375134024 CA104829730 |
527 | Q>* | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
VAR_075781 RCV001029814 rs567175477 CA312149 |
529 | R>Q | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome Variant assessed as Somatic; 0.0 impact. NEDHSB [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001046904 rs755548599 CA3070491 |
529 | R>W | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA358108304 RCV000806608 rs1578557046 |
531 | D>G | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1730088305 RCV001071943 |
538 | R>* | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001571803 RCV000550178 COSM149735 CA3070496 RCV001821639 rs74991481 |
539 | R>M | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome stomach [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000819737 rs143957561 CA3070500 |
541 | P>L | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000529018 CA3070499 RCV001570344 rs143957561 |
541 | P>R | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM586014 rs201404410 RCV001043304 CA3070497 |
541 | P>S | lung Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002527290 RCV000501723 rs1553958519 CA358108381 |
544 | L>V | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001263377 rs779320647 CA104829831 |
550 | L>R | Intellectual disability [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs111333879 RCV000693471 CA104829853 |
555 | S>T | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA3070508 rs373256503 RCV000792667 |
557 | H>P | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA358108460 RCV000815359 rs373256503 |
557 | H>R | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000190121 RCV001383408 rs139834687 CA248377 |
559 | Y>* | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA3070535 RCV001215481 rs754575085 |
577 | R>Q | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA3070534 RCV000810544 rs201782536 |
577 | R>W | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001283759 rs1725521831 |
581 | K>* | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3070539 rs777631995 RCV001040289 |
583 | Q>* | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA3070540 RCV001223919 rs371494148 |
583 | Q>R | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA104808558 RCV001223490 rs201286083 |
598 | T>N | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs373156651 RCV001222128 CA3070550 |
604 | Q>E | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA358093597 rs1407178956 RCV001339394 |
606 | M>V | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000806467 rs1578612173 |
607 | N>missing | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1725528788 RCV001264811 |
608 | D>missing | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001246154 rs1725532121 |
620 | D>G | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1725532508 RCV001057494 |
621 | V>A | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3070556 RCV001041274 RCV002285437 rs142275464 |
623 | N>I | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1221243310 CA358102171 RCV001210608 |
625 | S>P | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
VAR_075782 rs1553969639 CA319621 |
626 | W>C | NEDHSB [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
CA3070571 RCV000489560 RCV000689945 rs375343753 |
626 | W>S | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV000185648 rs768528444 CA312151 RCV001047626 VAR_075783 |
628 | D>G | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome NEDHSB; impaired maturation of pre-60S ribosome [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000812037 CA358102321 rs1303699326 |
637 | L>V | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001731890 CA3070582 RCV001824865 RCV000688260 RCV002271567 rs560475969 |
638 | K>E | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs35343500 CA3070584 RCV001662601 RCV000549405 |
640 | E>Q | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1316473569 RCV001223488 |
655 | R>missing | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3070593 COSM1050758 rs763737752 RCV001585936 RCV001037342 |
655 | R>* | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs763737752 CA358102547 RCV000652802 |
655 | R>G | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA312155 rs147873489 RCV000713497 RCV000527650 |
655 | R>Q | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001332949 rs367935913 CA3070594 |
656 | M>T | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
CA3070596 RCV001051202 rs750430267 |
660 | P>S | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000652800 rs998357703 CA104839917 |
667 | Y>C | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001222533 rs1729149072 |
673 | S>T | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA358102838 RCV000824984 rs1578710903 |
680 | A>S | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001344686 CA358102892 rs1473246053 |
684 | E>D | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs774587301 RCV000794650 RCV001759497 CA3070607 |
684 | E>K | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002534180 RCV000652796 rs370427695 CA3070610 RCV001814205 |
692 | I>V | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA3070633 rs141576468 RCV000538389 RCV000521969 |
694 | G>E | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001064758 CA3070635 rs376160539 |
696 | E>D | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA3070641 RCV001069274 rs757427948 |
706 | E>G | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001247500 rs754135389 CA3070658 |
714 | R>* | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs757368104 CA3070659 RCV001351011 |
714 | R>Q | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1730784531 RCV001060722 |
715 | K>T | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1730784665 RCV001202567 |
716 | A>missing | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001317445 rs1730787671 |
730 | D>G | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs368185089 CA105268684 RCV001216492 |
731 | A>S | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000553170 RCV001091380 RCV002526722 CA3070686 rs199626476 |
740 | L>S | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1553983667 RCV001382851 RCV000598590 |
742 | A>missing | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001069129 rs371305247 CA105272376 |
745 | V>I | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
CA3070691 RCV000801261 rs138229076 |
747 | D>N | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome Variant assessed as Somatic; 4.619e-05 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001339685 rs980624727 CA105272378 |
748 | R>C | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001342925 CA3070693 RCV001820043 rs553514469 |
753 | L>F | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs1207469751 CA358230366 RCV000810977 |
762 | Q>E | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001332950 rs1732760873 |
769 | L>missing | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1430304976 CA358230445 RCV001225874 |
774 | R>C | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA3070702 RCV000531445 rs539850739 |
774 | R>H | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA358230506 RCV001347660 rs1301917892 |
781 | A>G | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001320401 rs1741463047 |
783 | M>R | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs796051894 RCV000505757 CA312161 VAR_075784 |
784 | R>Q | NEDHSB [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001939361 rs796051890 |
788 | I>missing | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA358230595 rs1553934697 RCV000578367 |
795 | P>R | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1390467559 RCV001205911 CA358230609 |
797 | P>L | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001048060 rs1452110707 CA358230621 |
799 | A>E | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1741466672 RCV001169867 |
802 | R>K | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1741466817 RCV001316476 |
802 | R>S | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1560667008 RCV000697780 |
804 | E>missing | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001210958 CA105289937 rs1003808420 |
805 | I>V | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1246300838 CA358230720 RCV001029815 |
814 | P>S | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA3070735 rs149604630 RCV000662208 |
819 | V>A | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs374330092 RCV001055745 |
828 | T>S | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000541621 CA358230816 rs35206443 |
829 | D>N | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000499678 rs35206443 CA3070742 RCV001079730 RCV000515048 |
829 | D>Y | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001072095 rs765553109 CA358230858 |
835 | E>D | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA358228696 RCV001217328 rs1410825121 |
842 | E>D | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001262367 rs1744019425 |
843 | A>T | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs796051892 CA207576 RCV000193832 VAR_075785 RCV001268076 |
844 | A>V | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome NEDHSB [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
CA3070763 RCV000697216 rs777160273 |
845 | L>F | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA358228826 rs1344006407 RCV001312986 RCV001356165 |
862 | F>L | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinVar dbSNP ClinGen gnomAD |
|
RCV001050959 rs1317171361 CA358228907 |
875 | E>K | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001572346 CA3070773 rs28716389 COSM1050763 RCV000652799 |
879 | R>C | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome endometrium [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001039977 CA3070775 rs750171052 |
881 | Y>C | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3070776 RCV001206007 rs750171052 |
881 | Y>F | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000816609 rs780388261 CA358228964 |
883 | D>G | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1387497334 CA358228976 RCV000793391 |
885 | Q>E | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
| TCGA novel | 2 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1173569670 CA358096888 |
3 | S>F | No |
ClinGen TOPMed |
|
| rs1432376693 | 5 | K>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1578507400 CA358096912 RCV000993080 |
5 | K>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA358096965 COSM315545 rs971847249 |
9 | R>L | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs971847249 CA358096964 |
9 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs971847249 CA104805192 |
9 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1441205007 CA358096997 |
12 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA358096993 rs1441205007 |
12 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA358097016 rs1560780021 |
13 | S>T | No |
ClinGen Ensembl |
|
|
CA3070113 rs755179522 |
14 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA358097046 rs1364769573 |
16 | N>D | No |
ClinGen gnomAD |
|
|
CA358097079 rs1483650172 |
18 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs781438419 CA3070114 |
19 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA358097093 rs1379983861 |
20 | L>V | No |
ClinGen gnomAD |
|
|
rs980449757 CA358097108 |
21 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA104805211 rs980449757 |
21 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
COSM1050748 rs199517594 CA3070115 |
21 | P>S | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA358097117 rs1395411329 |
22 | S>A | No |
ClinGen gnomAD |
|
|
rs777986878 CA3070117 |
23 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 23 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3070118 rs749851782 |
24 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA104805235 rs183154447 |
25 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3070120 rs183154447 |
25 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA104805246 rs375140705 |
26 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs35430470 CA358097168 |
27 | C>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3070123 rs776285826 |
28 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA358097185 rs1200823602 |
29 | E>* | No |
ClinGen gnomAD |
|
|
rs1216880636 CA358097189 |
29 | E>G | No |
ClinGen Ensembl |
|
| TCGA novel | 30 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1251932014 CA358097207 |
30 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs769355729 CA3070125 |
31 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs775451520 CA104805252 |
31 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA358097224 rs1439209952 |
32 | A>V | No |
ClinGen gnomAD |
|
|
rs376956304 CA104805257 |
33 | P>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1454366125 CA358097234 |
33 | P>L | No |
ClinGen Ensembl |
|
|
rs536908540 CA104805270 |
34 | S>A | No |
ClinGen 1000Genomes |
|
|
CA358097242 rs1175547329 |
34 | S>C | No |
ClinGen gnomAD |
|
|
CA358097261 rs766259222 |
36 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358097256 rs1433726846 |
36 | G>R | No |
ClinGen TOPMed |
|
|
CA3070128 rs766259222 |
36 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3070129 rs751345585 |
37 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs759309963 CA3070130 |
40 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1330437785 CA358097361 |
41 | A>E | No |
ClinGen gnomAD |
|
|
CA358097356 rs1330437785 |
41 | A>V | No |
ClinGen gnomAD |
|
|
CA358097374 rs1442688086 |
42 | T>I | No |
ClinGen gnomAD |
|
|
rs1300856058 CA358097435 |
47 | T>R | No |
ClinGen gnomAD |
|
|
CA3070133 rs756401545 |
49 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA358097466 rs756401545 |
49 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs879154420 CA104805341 |
50 | N>S | No |
ClinGen Ensembl |
|
|
rs757868871 CA3070137 |
52 | L>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 53 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358098890 rs1578515799 |
55 | V>A | No |
ClinGen Ensembl |
|
|
rs761000572 CA3070154 |
56 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA104808168 rs969526920 |
56 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA358098907 rs1476062739 |
57 | D>N | No |
ClinGen gnomAD |
|
|
CA3070155 rs764370557 |
58 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1578515854 CA358098953 |
59 | I>T | No |
ClinGen Ensembl |
|
|
CA3070158 rs150877999 |
64 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs544598875 CA104808208 |
65 | N>D | No |
ClinGen Ensembl |
|
|
rs1454016220 CA358099062 |
65 | N>S | No |
ClinGen gnomAD |
|
|
rs777517835 CA104808220 |
67 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA3070160 rs758797121 |
70 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs758797121 CA358099134 |
70 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA3070161 rs201230160 |
71 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1356661437 CA358099169 |
72 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 76 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA104808262 rs945634678 |
77 | S>F | No |
ClinGen Ensembl |
|
|
rs749408197 CA104808269 |
78 | A>T | No |
ClinGen Ensembl |
|
|
CA3070165 rs368277251 |
82 | I>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3070164 rs777343800 |
82 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1382144961 CA358099382 |
83 | G>A | No |
ClinGen TOPMed |
|
|
CA3070166 rs770534371 |
83 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs773729755 CA358099402 |
84 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1419499170 CA358099444 |
86 | V>A | No |
ClinGen gnomAD |
|
|
CA358099462 rs1394654576 |
87 | L>F | No |
ClinGen TOPMed |
|
|
rs771854378 CA3070168 |
90 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs796051893 CA358099529 |
90 | S>N | No |
ClinGen gnomAD |
|
|
CA104808313 rs375186820 |
93 | G>A | No |
ClinGen Ensembl |
|
|
CA3070172 rs777048534 |
96 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1450852235 CA358099636 |
96 | E>G | No |
ClinGen gnomAD |
|
|
rs1370693993 CA358099626 |
96 | E>Q | No |
ClinGen TOPMed |
|
|
COSM586017 CA3070183 rs778506643 |
97 | V>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs778506643 CA358099731 |
97 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs745330616 CA3070184 |
99 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA3070185 RCV000413205 rs772049150 |
102 | P>S | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA358099814 rs1374888740 |
104 | A>V | No |
ClinGen gnomAD |
|
|
CA3070187 rs746926797 |
106 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3070189 rs776531628 |
107 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA3070188 rs768637396 |
107 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1206290184 CA358099840 |
109 | G>D | No |
ClinGen gnomAD |
|
|
CA358099854 rs1578518199 |
111 | V>G | No |
ClinGen Ensembl |
|
|
CA3070192 rs773376572 |
112 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA358099868 rs1254556729 |
113 | L>V | No |
ClinGen gnomAD |
|
|
rs766925357 CA3070194 |
114 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA358099887 rs1578518240 |
114 | S>R | No |
ClinGen Ensembl |
|
|
CA3070195 rs752120388 |
116 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs372665187 CA3070196 |
117 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3070197 rs139381543 |
121 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1578518302 CA358099992 |
123 | V>G | No |
ClinGen Ensembl |
|
|
CA358100039 rs1465451211 |
128 | A>T | No |
ClinGen gnomAD |
|
|
CA358100046 rs1326756676 |
128 | A>V | No |
ClinGen gnomAD |
|
|
rs1434388360 CA358100049 |
129 | I>V | No |
ClinGen gnomAD |
|
|
rs1560786479 RCV000760484 CA358100063 |
130 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA358100074 rs1362538809 |
131 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 134 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs867013246 CA104809135 |
136 | G>C | No |
ClinGen Ensembl |
|
|
CA358100138 rs1317011119 |
136 | G>D | No |
ClinGen gnomAD |
|
|
rs1214101958 CA358100140 |
137 | A>T | No |
ClinGen gnomAD |
|
|
CA358100150 rs1578518417 |
138 | V>M | No |
ClinGen Ensembl |
|
|
rs749960674 CA3070202 |
139 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1225448099 CA358100225 |
144 | M>I | No |
ClinGen gnomAD |
|
|
CA3070205 rs746980102 |
144 | M>R | No |
ClinGen ExAC |
|
|
CA3070208 rs781153844 |
147 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747861239 CA3070209 |
148 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1477659562 CA358100277 |
149 | S>N | No |
ClinGen gnomAD |
|
|
CA358100590 rs1338430068 |
151 | K>E | No |
ClinGen gnomAD |
|
|
COSM1426737 rs749514933 CA3070231 |
152 | D>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 153 | M>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375957621 CA3070233 |
153 | M>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375957621 CA3070234 |
153 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3070236 rs775918044 |
159 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs369894784 CA3070237 |
162 | G>R | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA3070239 rs548563327 |
163 | C>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs562079305 CA104812304 |
168 | L>Q | No |
ClinGen 1000Genomes |
|
|
rs759262059 CA3070266 |
174 | L>* | No |
ClinGen ExAC gnomAD |
|
|
rs759262059 CA3070267 |
174 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA358101322 rs1279412443 |
175 | P>L | No |
ClinGen gnomAD |
|
|
rs1320376844 CA358101332 |
176 | G>V | No |
ClinGen gnomAD |
|
| TCGA novel | 180 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752230235 CA3070268 |
182 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3070269 rs756030088 |
184 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1425698411 CA358101458 |
186 | R>Q | No |
ClinGen gnomAD |
|
|
CA358101472 rs746128411 |
187 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780015915 CA3070276 |
189 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs377611654 CA3070277 |
189 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1382310635 CA358101525 |
191 | Q>H | No |
ClinGen gnomAD |
|
|
CA358101521 rs1389326071 |
191 | Q>L | No |
ClinGen gnomAD |
|
| TCGA novel | 193 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1398526423 CA358101547 |
193 | L>W | No |
ClinGen gnomAD |
|
|
rs770353140 CA3070281 |
194 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3070283 rs759311477 |
194 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA104812917 rs759311477 |
194 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358101603 rs1560791478 |
198 | A>E | No |
ClinGen Ensembl |
|
| TCGA novel | 206 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA104812963 rs1051296970 |
207 | Q>H | No |
ClinGen TOPMed |
|
|
rs111900841 CA104812964 |
208 | S>G | No |
ClinGen Ensembl |
|
|
CA358101697 rs1336587542 |
210 | S>P | No |
ClinGen TOPMed |
|
|
CA358101706 rs1432199582 |
211 | D>G | No |
ClinGen gnomAD |
|
|
CA3070288 rs753839476 |
212 | T>A | No |
ClinGen ExAC gnomAD |
|
|
COSM586016 rs761706494 CA3070289 |
212 | T>S | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 216 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3070291 rs750165855 |
216 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358101736 rs750165855 |
216 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA104813003 rs771017089 |
217 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA3070293 rs780253405 |
218 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1419770908 CA358101752 |
219 | F>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 219 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3070294 rs751607826 |
221 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1288825913 CA358101793 |
224 | M>I | No |
ClinGen gnomAD |
|
|
rs781131937 CA3070296 |
224 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA3070297 rs748708931 |
226 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1358647368 CA358101813 |
227 | S>N | No |
ClinGen Ensembl |
|
|
CA358101826 rs1159856292 |
229 | L>V | No |
ClinGen gnomAD |
|
|
CA358101836 rs1253445611 |
230 | E>D | No |
ClinGen TOPMed |
|
|
CA3070299 rs778304673 |
230 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA104813046 rs146442339 |
232 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA104813055 rs953117965 |
232 | S>Y | No |
ClinGen Ensembl |
|
|
COSM1194150 rs1215745301 CA358101860 |
234 | Q>H | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA3070304 rs202112991 |
236 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA358101880 rs1484072284 |
237 | Q>H | No |
ClinGen gnomAD |
|
|
rs1179967324 CA358101892 |
239 | D>G | No |
ClinGen gnomAD |
|
|
rs768252394 CA3070305 |
240 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA104813092 rs759575800 |
242 | D>G | No |
ClinGen gnomAD |
|
|
CA3070306 rs776096967 |
243 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA3070307 rs761757631 |
243 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs767616281 CA3070308 |
244 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA3070309 rs750221180 |
245 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA3070310 rs140908354 |
246 | P>A | No |
ClinGen ESP ExAC |
|
|
rs944960985 CA104813114 |
248 | S>A | No |
ClinGen Ensembl |
|
|
CA358101947 rs1351616987 |
248 | S>L | No |
ClinGen TOPMed |
|
|
rs1281527178 CA358101959 |
250 | S>I | No |
ClinGen TOPMed |
|
|
rs1281527178 CA358101960 |
250 | S>T | No |
ClinGen TOPMed |
|
|
CA3070311 rs766077862 |
251 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA104813118 rs972756437 |
251 | T>S | No |
ClinGen Ensembl |
|
|
CA3070313 rs755128357 |
253 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3070316 rs756720590 |
256 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA358102002 rs1301889267 |
257 | D>G | No |
ClinGen gnomAD |
|
|
CA358102010 rs1313938475 |
258 | D>G | No |
ClinGen gnomAD |
|
|
CA3070317 rs778359904 |
259 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA104813237 rs267600008 |
260 | I>M | No |
ClinGen Ensembl |
|
|
CA3070319 rs771391014 |
262 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779115258 CA3070320 |
262 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA3070321 rs746722924 |
264 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA358102059 rs1386549474 |
266 | D>H | No |
ClinGen TOPMed |
|
|
CA104813302 rs376711819 |
271 | V>I | No |
ClinGen gnomAD |
|
|
CA3070325 rs769733967 |
274 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358102113 rs769733967 |
274 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358102122 rs1466482297 |
275 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 276 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766240552 CA3070328 |
278 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA358102162 rs1217362917 |
280 | G>A | No |
ClinGen gnomAD |
|
|
CA358102160 rs1217362917 |
280 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA358102154 rs1369600811 |
280 | G>R | No |
ClinGen gnomAD |
|
|
CA3070331 rs138098794 |
282 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773999267 CA3070330 |
282 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs773999267 CA3070329 |
282 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1255748366 CA358102216 |
285 | E>K | No |
ClinGen gnomAD |
|
|
rs752830400 CA3070332 |
286 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1221624230 CA358102244 |
287 | T>A | No |
ClinGen gnomAD |
|
|
rs1246079004 CA358102250 |
287 | T>I | No |
ClinGen TOPMed |
|
|
CA104813372 rs956017089 |
291 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA3070333 rs756205659 |
292 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs764264207 CA3070334 |
293 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs754407236 CA3070335 |
294 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs568838818 CA3070337 |
297 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3070340 rs75871497 |
299 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1165783990 CA358102454 |
302 | Q>R | No |
ClinGen gnomAD |
|
|
CA358102473 rs1351638270 |
303 | L>R | No |
ClinGen gnomAD |
|
|
rs772680726 CA3070343 |
308 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA104813445 rs796051889 |
314 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1020660439 CA104813453 |
314 | I>T | No |
ClinGen Ensembl |
|
|
CA358102642 rs1276116389 |
316 | A>T | No |
ClinGen gnomAD |
|
|
CA358102648 rs1274744710 |
316 | A>V | No |
ClinGen TOPMed |
|
|
CA358102656 rs964967425 |
317 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
CA104813461 rs964967425 |
317 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1291598906 CA358102703 |
320 | T>A | No |
ClinGen gnomAD |
|
|
rs1220271879 CA358102715 |
321 | D>H | No |
ClinGen gnomAD |
|
|
rs774233402 CA3070346 |
322 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs903104088 CA104813477 |
323 | F>S | No |
ClinGen Ensembl |
|
| TCGA novel | 324 | Y>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 324 | Y>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1167366438 CA358102832 |
328 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA104813492 rs1032693074 |
330 | T>I | No |
ClinGen Ensembl |
|
|
CA358102858 rs1261425099 |
330 | T>A | No |
ClinGen gnomAD |
|
|
rs1182603826 CA358102928 |
335 | T>A | No |
ClinGen gnomAD |
|
|
CA358102959 rs767867303 |
337 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs775914629 CA358102964 |
337 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775914629 CA3070349 |
337 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs767867303 CA3070348 |
337 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs190536163 CA3070351 |
342 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA358103035 rs1296289361 |
343 | E>G | No |
ClinGen gnomAD |
|
|
rs1324180510 CA358103046 |
345 | D>N | No |
ClinGen gnomAD |
|
|
CA3070353 rs757810366 |
348 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs146372781 CA3070355 |
349 | K>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA358103086 rs1286156167 |
350 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs758818245 CA3070356 |
350 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1213339947 CA358103105 |
353 | D>G | No |
ClinGen TOPMed |
|
|
rs780395251 CA3070357 CA358103117 |
354 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358103109 rs1355263437 |
354 | M>L | No |
ClinGen gnomAD |
|
|
rs1282783380 CA358103120 |
355 | I>L | No |
ClinGen gnomAD |
|
|
CA104813598 rs751213743 |
355 | I>T | No |
ClinGen gnomAD |
|
|
CA358103152 rs755744719 CA358103150 |
357 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358103164 rs1371104950 |
358 | L>* | No |
ClinGen TOPMed gnomAD |
|
|
CA3070362 rs748708307 |
359 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA358103178 rs1578528331 |
360 | S>G | No |
ClinGen Ensembl |
|
|
CA104813653 rs1019101272 |
360 | S>T | No |
ClinGen gnomAD |
|
|
CA358103208 rs1441641791 |
362 | L>R | No |
ClinGen gnomAD |
|
|
CA358103254 rs1320966790 |
366 | R>K | No |
ClinGen gnomAD |
|
|
rs778659382 CA3070365 CA3070364 |
367 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3070363 rs770906505 |
367 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA358103334 rs1457895214 |
373 | L>H | No |
ClinGen gnomAD |
|
|
rs377070684 CA3070367 |
374 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1170878259 CA358103370 |
376 | P>H | No |
ClinGen TOPMed |
|
|
CA3070368 rs760998804 |
377 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs760998804 CA358103376 |
377 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1237325691 CA358103434 |
381 | S>N | No |
ClinGen gnomAD |
|
|
rs1417321458 CA358103451 |
382 | Y>C | No |
ClinGen TOPMed |
|
|
rs374310479 CA3070386 |
387 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368239486 CA3070387 |
388 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA104814657 rs947193228 |
388 | R>K | No |
ClinGen TOPMed |
|
|
rs1330785044 CA358103721 |
392 | L>V | No |
ClinGen gnomAD |
|
|
CA3070390 rs763477021 |
398 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA3070391 rs766836127 |
398 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA358103880 rs1452274564 |
401 | T>S | No |
ClinGen gnomAD |
|
|
CA3070394 rs759837923 |
404 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3070393 rs759837923 |
404 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358103977 rs1171191374 |
408 | A>S | No |
ClinGen gnomAD |
|
|
rs1043307826 CA104814724 |
409 | N>K | No |
ClinGen TOPMed |
|
|
rs756910038 CA358104031 |
410 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA3070397 rs201451732 |
414 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1390752490 CA358104163 |
418 | I>M | No |
ClinGen gnomAD |
|
|
rs1032390687 CA104814742 |
419 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 420 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358104198 rs1388015647 |
420 | G>V | No |
ClinGen gnomAD |
|
|
rs758414867 CA358104271 |
424 | I>K | No |
ClinGen ExAC gnomAD |
|
|
rs758414867 CA3070399 |
424 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1450295859 CA358104262 |
424 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA358104283 rs1344236986 |
425 | S>N | No |
ClinGen gnomAD |
|
|
CA358104920 rs1342702544 |
426 | K>N | No |
ClinGen gnomAD |
|
|
rs932022828 CA104814767 |
426 | K>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 427 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1380887627 COSM1193302 CA358104946 |
428 | Y>C | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA358105016 rs1341355506 |
433 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA358105055 rs1247048378 |
436 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs758036393 CA3070420 |
436 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1434322472 CA358105064 |
437 | Q>E | No |
ClinGen TOPMed |
|
|
CA3070421 rs765980232 |
437 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1217181493 CA358105079 |
438 | I>V | No |
ClinGen gnomAD |
|
|
rs1288084388 CA358105098 |
439 | F>S | No |
ClinGen gnomAD |
|
|
rs751584199 CA3070422 |
440 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs754922943 CA3070423 |
441 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA358105137 rs1256397598 |
442 | A>V | No |
ClinGen gnomAD |
|
|
rs780874502 CA3070424 |
443 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs999490112 CA104815091 |
443 | T>P | No |
ClinGen gnomAD |
|
|
rs1032354529 CA104815131 |
444 | L>V | No |
ClinGen Ensembl |
|
|
rs773064579 CA3070440 |
446 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1338655673 CA358105943 |
446 | H>R | No |
ClinGen TOPMed |
|
|
CA358105958 rs1447583225 |
447 | P>L | No |
ClinGen gnomAD |
|
|
rs1405702558 CA358105951 |
447 | P>S | No |
ClinGen gnomAD |
|
|
CA358106003 rs1410799542 |
451 | F>L | No |
ClinGen TOPMed |
|
|
CA358106029 rs1422071345 |
454 | E>K | No |
ClinGen TOPMed |
|
|
rs1560797287 CA358106056 |
456 | D>H | No |
ClinGen Ensembl |
|
|
CA104821336 rs1055343220 |
457 | A>S | No |
ClinGen TOPMed |
|
|
CA358106080 rs1459538906 |
458 | L>V | No |
ClinGen TOPMed |
|
|
rs1298993537 CA358106149 |
462 | R>S | No |
ClinGen Ensembl |
|
| TCGA novel | 463 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1318210993 CA358106174 |
464 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 465 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358106184 rs1560797389 |
465 | A>S | No |
ClinGen Ensembl |
|
|
CA3070450 rs143105002 |
470 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3070451 rs371066513 |
471 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745890892 CA3070452 |
472 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA104821480 rs750370603 |
475 | A>S | No |
ClinGen Ensembl |
|
|
CA3070454 rs780668607 |
476 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA358106344 rs1172833025 |
477 | L>P | No |
ClinGen gnomAD |
|
|
rs1578535649 CA358106361 |
478 | L>F | No |
ClinGen Ensembl |
|
| TCGA novel | 479 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358106376 rs1317000778 |
479 | T>I | No |
ClinGen TOPMed |
|
|
CA16618030 RCV000478396 rs1064796791 |
481 | M>T | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA104821523 rs970528947 |
486 | S>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 488 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748457834 CA3070476 |
491 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA358108087 rs1475230931 |
496 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA358108105 rs1387106355 |
499 | T>A | No |
ClinGen gnomAD |
|
|
CA358108110 rs770721082 |
500 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370908581 CA104829602 |
501 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA gnomAD |
|
CA358108119 rs148135198 |
501 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1316013984 CA358108128 |
503 | H>Y | No |
ClinGen gnomAD |
|
|
rs987809039 CA104829645 |
504 | A>D | No |
ClinGen Ensembl |
|
|
CA3070481 rs774842837 |
504 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs533608187 CA358108154 |
507 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3070482 rs533608187 |
507 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1352098188 CA358108172 |
510 | R>Q | No |
ClinGen gnomAD |
|
|
rs1282545842 CA358108185 |
512 | P>L | No |
ClinGen gnomAD |
|
|
rs946483789 CA104829686 |
516 | D>E | No |
ClinGen Ensembl |
|
|
CA358108242 rs1399124170 |
520 | E>D | No |
ClinGen TOPMed |
|
|
CA358108236 rs1295989845 |
520 | E>Q | No |
ClinGen TOPMed |
|
|
CA358108246 rs897870081 |
521 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
rs766500233 CA3070489 |
522 | G>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs757375382 CA104829745 |
528 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1178133494 CA358108300 |
531 | D>N | No |
ClinGen gnomAD |
|
|
rs1578557063 RCV001008702 CA358108331 |
535 | K>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA358108343 rs1213636722 |
537 | L>V | No |
ClinGen TOPMed |
|
|
CA358108351 rs1331487466 |
538 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs888039741 CA104829798 |
540 | V>I | No |
ClinGen TOPMed |
|
|
CA3070498 rs143957561 |
541 | P>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA358108369 rs958440766 |
542 | H>P | No |
ClinGen TOPMed |
|
|
CA104829824 rs958440766 |
542 | H>R | No |
ClinGen TOPMed |
|
|
rs768136948 CA3070501 |
544 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1203314382 CA358108386 |
545 | T>A | No |
ClinGen gnomAD |
|
|
CA358108427 rs1232295775 |
551 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs371956909 CA3070503 |
551 | Q>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA104829839 rs145939083 |
552 | L>R | No |
ClinGen ESP |
|
|
CA3070504 rs765128490 |
554 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1468928668 CA358108456 |
556 | A>G | No |
ClinGen gnomAD |
|
|
rs369316814 CA3070506 |
556 | A>P | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 556 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766447688 CA3070507 |
557 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs755167641 CA3070509 |
558 | G>* | No |
ClinGen ExAC gnomAD |
|
|
CA3070511 rs756560225 |
560 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs925867723 CA104829914 |
562 | A>S | No |
ClinGen TOPMed |
|
|
CA104829929 rs758889062 |
565 | K>* | No |
ClinGen gnomAD |
|
|
CA358108543 rs1477655444 |
566 | V>A | No |
ClinGen TOPMed |
|
|
rs1223076312 CA358108569 |
568 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA358108581 rs1190574473 |
569 | N>S | No |
ClinGen TOPMed |
|
|
rs1273871549 CA358108591 |
570 | E>G | No |
ClinGen gnomAD |
|
|
CA104829949 rs905963044 |
571 | A>G | No |
ClinGen TOPMed |
|
|
CA358108597 rs1472027862 |
571 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 573 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358093235 rs754354165 |
574 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3070531 rs754354165 |
574 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757625846 CA3070532 |
575 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358093248 rs1385254001 |
575 | A>V | No |
ClinGen gnomAD |
|
|
rs779213464 CA3070533 |
576 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA358093275 rs1457698446 |
578 | R>I | No |
ClinGen gnomAD |
|
|
CA3070536 rs552591288 |
579 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 582 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3070541 rs770672821 |
585 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA3070543 rs148868983 |
588 | D>H | No |
ClinGen ESP ExAC |
|
|
rs1560839203 CA358093389 |
588 | D>V | No |
ClinGen Ensembl |
|
|
CA358093402 rs1262227439 |
589 | V>A | No |
ClinGen gnomAD |
|
|
CA358093413 rs1484781070 |
590 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 592 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1204120242 CA358093451 |
594 | L>V | No |
ClinGen gnomAD |
|
|
rs1222671831 CA358093515 |
599 | L>P | No |
ClinGen gnomAD |
|
|
rs1365851266 CA358093533 |
601 | D>N | No |
ClinGen gnomAD |
|
|
CA358093563 rs1452086737 |
603 | L>M | No |
ClinGen gnomAD |
|
|
rs373156651 CA3070549 |
604 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1232177019 CA358093642 |
609 | I>T | No |
ClinGen TOPMed |
|
|
CA358093647 rs1252578142 |
610 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA358093664 rs1334740694 |
611 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA3070551 rs750745562 |
611 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA358093660 rs1334740694 |
611 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA358093662 rs1334740694 |
611 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA358093677 rs1560839387 |
612 | S>T | No |
ClinGen Ensembl |
|
|
CA3070553 rs147630050 |
614 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3070552 rs754628135 |
614 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3070555 rs755647353 |
618 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA3070554 rs752383659 |
618 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1434744773 CA358093753 |
619 | I>L | No |
ClinGen TOPMed |
|
|
CA358093755 rs1434744773 |
619 | I>V | No |
ClinGen TOPMed |
|
|
CA358093809 rs142275464 |
623 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA358102158 rs1331390431 |
624 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA104839709 rs973894365 |
625 | S>F | No |
ClinGen TOPMed |
|
|
rs540426436 CA3070572 |
627 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA358102207 rs768528444 |
628 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752332204 CA3070574 |
629 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3070576 rs763537926 |
630 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3070577 rs753352597 |
632 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs757267731 CA3070578 |
632 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs778940152 CA3070579 |
634 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358102282 rs1429178597 |
634 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA358102284 rs1429178597 |
634 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA358102301 rs1428969439 |
635 | I>N | No |
ClinGen gnomAD |
|
|
rs758306140 CA3070581 |
635 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA358102323 rs1476739837 |
637 | L>Q | No |
ClinGen TOPMed |
|
|
rs548991689 CA3070585 |
640 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3070586 rs548991689 |
640 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA358102356 rs35343500 |
640 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3070587 rs769852673 |
642 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA3070589 rs763419686 |
646 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA104839876 rs980171134 |
649 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1198860700 CA358102485 |
650 | P>S | No |
ClinGen TOPMed |
|
|
CA3070590 rs766779249 |
651 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 653 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358102523 rs1259317105 |
653 | F>L | No |
ClinGen TOPMed |
|
|
CA3070592 rs760281004 |
654 | I>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 654 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358102573 rs1417392309 |
657 | G>D | No |
ClinGen gnomAD |
|
|
rs764806156 CA3070595 |
658 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs938697793 CA104839894 |
659 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA358102623 rs1200606152 |
661 | P>L | No |
ClinGen gnomAD |
|
|
rs1053096287 CA104839908 |
664 | V>D | No |
ClinGen TOPMed |
|
| TCGA novel | 667 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1345589902 CA358102700 |
668 | G>R | No |
ClinGen gnomAD |
|
|
CA3070600 rs755167053 |
669 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1286762054 CA358102711 |
669 | P>T | No |
ClinGen gnomAD |
|
|
rs748366797 CA3070602 |
671 | G>R | No |
ClinGen ExAC gnomAD |
|
|
VAR_042704 CA104839979 rs35133326 |
673 | S>Y | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA358102794 rs1317909833 |
676 | M>V | No |
ClinGen gnomAD |
|
|
rs749817574 CA3070605 |
677 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000993082 CA358102842 rs1578710903 |
680 | A>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA104840006 rs866943725 |
682 | A>V | No |
ClinGen TOPMed |
|
|
CA3070606 rs771431952 |
683 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358102990 rs1408362205 |
692 | I>T | No |
ClinGen gnomAD |
|
|
rs773420653 CA104840031 |
693 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs756335987 CA3070638 |
701 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs778833017 CA3070643 |
710 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs754135389 CA358227038 |
714 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA105268682 rs374627057 |
720 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs758955886 CA3070662 |
720 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 722 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs534283508 CA3070664 |
723 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1186963817 CA358227116 COSM175644 |
725 | F>L | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA358227110 rs1394246954 |
725 | F>S | No |
ClinGen TOPMed |
|
|
CA105268683 rs1025264767 |
728 | E>K | No |
ClinGen Ensembl |
|
|
rs1205351341 CA358227182 |
730 | D>N | No |
ClinGen gnomAD |
|
|
CA3070665 rs755433377 |
733 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA358227301 rs1409394172 |
737 | G>S | No |
ClinGen TOPMed |
|
|
CA3070687 rs150422496 |
742 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA358230238 rs1467700191 |
742 | A>S | No |
ClinGen gnomAD |
|
|
CA3070688 rs150422496 |
742 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756950907 CA3070689 |
743 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358230265 rs138229076 |
747 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3070692 rs374116277 |
748 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768511341 CA3070695 |
755 | T>A | No |
ClinGen ExAC |
|
|
CA358230344 rs1214027110 |
759 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA358230379 rs1254734777 |
764 | K>E | No |
ClinGen gnomAD |
|
|
rs1225377251 CA358230385 |
764 | K>N | No |
ClinGen gnomAD |
|
|
CA358230389 rs1469669973 |
765 | D>A | No |
ClinGen TOPMed |
|
|
CA3070697 rs761570188 |
766 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA3070699 rs773345594 |
767 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1257767030 CA358230414 |
769 | L>S | No |
ClinGen gnomAD |
|
|
rs763245259 CA3070700 |
770 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1181714358 CA358230439 |
773 | N>S | No |
ClinGen gnomAD |
|
|
rs760127177 CA3070703 |
775 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3070704 rs767856074 |
776 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 777 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358230468 rs1219695998 |
778 | I>V | No |
ClinGen TOPMed |
|
|
CA105289932 rs75070220 |
782 | L>F | No |
ClinGen Ensembl |
|
|
CA3070723 rs201227451 |
785 | P>S | Variant assessed as Somatic; 9.24e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1428829355 CA358230546 |
788 | I>V | No |
ClinGen gnomAD |
|
|
CA3070724 rs767632548 |
789 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA105289934 rs898542266 |
790 | R>G | No |
ClinGen TOPMed |
|
|
CA358230560 rs1351428981 |
790 | R>T | No |
ClinGen gnomAD |
|
|
rs753188504 CA3070725 |
792 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1362035136 CA358230582 |
793 | Y>C | No |
ClinGen gnomAD |
|
|
CA358230590 rs1560666945 |
794 | V>A | No |
ClinGen Ensembl |
|
|
COSM3428112 rs761226582 CA3070726 |
795 | P>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs761226582 CA358230593 |
795 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3070729 rs758056423 |
800 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA105289938 rs374886562 |
805 | I>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA358230666 rs1323880506 |
806 | F>C | No |
ClinGen gnomAD |
|
|
CA3070730 rs766076696 |
809 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751207647 CA3070731 CA358230688 |
809 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766076696 CA358230683 |
809 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1173609109 CA358230696 |
810 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 811 | H>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3070733 rs780730019 |
813 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA3070732 rs754485432 |
813 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs926205844 CA105289939 |
817 | N>D | No |
ClinGen Ensembl |
|
| TCGA novel | 817 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA105289940 rs573757424 |
818 | E>* | No |
ClinGen gnomAD |
|
|
CA3070736 rs777716801 |
822 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770839216 CA3070738 |
824 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA3070739 rs374330092 |
828 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA358230824 rs764600164 |
830 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA3070744 rs764600164 |
830 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 831 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3070746 rs762230042 |
831 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3070745 rs777106787 |
831 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA358228665 rs1259866080 |
838 | A>T | No |
ClinGen gnomAD |
|
|
CA3070762 rs201056845 |
839 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201056845 CA105295665 |
839 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA358228678 rs1463321517 |
840 | C>Y | No |
ClinGen TOPMed |
|
|
rs1179549009 CA358228685 |
841 | R>K | No |
ClinGen gnomAD |
|
|
CA358228719 rs1413209146 |
847 | A>P | No |
ClinGen gnomAD |
|
|
CA3070764 rs762285153 |
848 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1579119187 CA358228734 |
849 | E>G | No |
ClinGen Ensembl |
|
|
CA358228760 rs1371554541 |
853 | Q>K | No |
ClinGen gnomAD |
|
|
CA3070765 rs765612267 |
853 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3070766 rs773526153 |
855 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs759115657 CA3070767 |
855 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs919319244 CA105295669 |
856 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs752280801 CA3070769 |
857 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752280801 CA105295670 |
857 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3070770 rs563181885 |
858 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs763669135 CA358228811 |
860 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358228834 rs1226912133 |
864 | Q>* | No |
ClinGen TOPMed |
|
|
rs1226912133 CA358228836 |
864 | Q>E | No |
ClinGen TOPMed |
|
|
rs1202816476 CA358228837 |
864 | Q>P | No |
ClinGen gnomAD |
|
| TCGA novel | 873 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1250845089 CA358228897 |
873 | I>S | No |
ClinGen gnomAD |
|
|
rs1191156431 CA358228911 |
875 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA358228915 rs1382201613 |
876 | S>T | No |
ClinGen TOPMed |
|
|
rs932859554 CA105295671 |
878 | R>G | No |
ClinGen Ensembl |
|
|
rs368041677 COSM1227281 CA3070774 |
879 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA358228957 rs1391378678 |
882 | E>G | No |
ClinGen gnomAD |
|
|
rs780388261 CA3070778 |
883 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1167045534 CA358228968 |
884 | Y>N | No |
ClinGen gnomAD |
|
|
CA3070779 rs747165507 |
886 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA105295672 rs762801016 |
888 | S>G | No |
ClinGen Ensembl |
|
|
CA358229004 rs1435906243 |
888 | S>R | No |
ClinGen gnomAD |
|
|
rs748685337 CA3070782 |
890 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA358229018 rs770218770 |
891 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358229021 rs1273583107 |
891 | H>Q | No |
ClinGen gnomAD |
|
|
rs770218770 CA3070783 |
891 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1004391153 CA105295673 |
892 | T>I | No |
ClinGen Ensembl |
|
|
rs1183141577 CA358229032 |
893 | L>P | No |
ClinGen TOPMed |
|
|
CA3070784 rs146403797 |
894 | L>R | No |
ClinGen ESP ExAC gnomAD |
1 associated diseases with Q8NB90
[MIM: 616577]: Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities (NEDHSB)
An autosomal recessive disorder characterized by intellectual disability, intractable epilepsy, microcephaly, abnormal muscle tone, and sensorineural hearing loss. {ECO:0000269|PubMed:26299366, ECO:0000269|PubMed:27246907, ECO:0000269|PubMed:28293831, ECO:0000269|PubMed:34360601, ECO:0000269|PubMed:35354024}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive disorder characterized by intellectual disability, intractable epilepsy, microcephaly, abnormal muscle tone, and sensorineural hearing loss. {ECO:0000269|PubMed:26299366, ECO:0000269|PubMed:27246907, ECO:0000269|PubMed:28293831, ECO:0000269|PubMed:34360601, ECO:0000269|PubMed:35354024}. Note=The disease is caused by variants affecting the gene represented in this entry.
8 regional properties for Q8NB90
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | AAA+ ATPase domain | 386 - 525 | IPR003593-1 |
| domain | AAA+ ATPase domain | 660 - 798 | IPR003593-2 |
| domain | ATPase, AAA-type, core | 390 - 522 | IPR003959-1 |
| domain | ATPase, AAA-type, core | 664 - 796 | IPR003959-2 |
| conserved_site | ATPase, AAA-type, conserved site | 493 - 511 | IPR003960-1 |
| conserved_site | ATPase, AAA-type, conserved site | 766 - 784 | IPR003960-2 |
| domain | AAA ATPase, AAA+ lid domain | 549 - 581 | IPR041569-1 |
| domain | AAA ATPase, AAA+ lid domain | 819 - 862 | IPR041569-2 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.6.4.10 | Acting on ATP; involved in cellular and subcellular movement |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| spindle | The array of microtubules and associated molecules that forms between opposite poles of a eukaryotic cell during mitosis or meiosis and serves to move the duplicated chromosomes apart. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP hydrolysis activity | Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient. |
| preribosome binding | Binding to a preribosome. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| brain development | The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.). |
| cell differentiation | The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
| ribosomal large subunit biogenesis | A cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a large ribosomal subunit; includes transport to the sites of protein synthesis. |
| spermatogenesis | The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P55072 | VCP | Transitional endoplasmic reticulum ATPase | Homo sapiens (Human) | PR |
| Q01853 | Vcp | Transitional endoplasmic reticulum ATPase | Mus musculus (Mouse) | PR |
| P54811 | cdc-48.1 | Transitional endoplasmic reticulum ATPase homolog 1 | Caenorhabditis elegans | PR |
| P54812 | cdc-48.2 | Transitional endoplasmic reticulum ATPase homolog 2 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSSKKNRKRL | NQSAENGSSL | PSAASSCAEA | RAPSAGSDFA | ATSGTLTVTN | LLEKVDDKIP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KTFQNSLIHL | GLNTMKSANI | CIGRPVLLTS | LNGKQEVYTA | WPMAGFPGGK | VGLSEMAQKN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VGVRPGDAIQ | VQPLVGAVLQ | AEEMDVALSD | KDMEINEEEL | TGCILRKLDG | KIVLPGNFLY |
| 190 | 200 | 210 | 220 | 230 | 240 |
| CTFYGRPYKL | QVLRVKGADG | MILGGPQSDS | DTDAQRMAFE | QSSMETSSLE | LSLQLSQLDL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EDTQIPTSRS | TPYKPIDDRI | TNKASDVLLD | VTQSPGDGSG | LMLEEVTGLK | CNFESAREGN |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EQLTEEERLL | KFSIGAKCNT | DTFYFISSTT | RVNFTEIDKN | SKEQDNQFKV | TYDMIGGLSS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QLKAIREIIE | LPLKQPELFK | SYGIPAPRGV | LLYGPPGTGK | TMIARAVANE | VGAYVSVING |
| 430 | 440 | 450 | 460 | 470 | 480 |
| PEIISKFYGE | TEAKLRQIFA | EATLRHPSII | FIDELDALCP | KREGAQNEVE | KRVVASLLTL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| MDGIGSEVSE | GQVLVLGATN | RPHALDAALR | RPGRFDKEIE | IGVPNAQDRL | DILQKLLRRV |
| 550 | 560 | 570 | 580 | 590 | 600 |
| PHLLTEAELL | QLANSAHGYV | GADLKVLCNE | AGLCALRRIL | KKQPNLPDVK | VAGLVKITLK |
| 610 | 620 | 630 | 640 | 650 | 660 |
| DFLQAMNDIR | PSAMREIAID | VPNVSWSDIG | GLESIKLKLE | QAVEWPLKHP | ESFIRMGIQP |
| 670 | 680 | 690 | 700 | 710 | 720 |
| PKGVLLYGPP | GCSKTMIAKA | LANESGLNFL | AIKGPELMNK | YVGESERAVR | ETFRKARAVA |
| 730 | 740 | 750 | 760 | 770 | 780 |
| PSIIFFDELD | ALAVERGSSL | GAGNVADRVL | AQLLTEMDGI | EQLKDVTILA | ATNRPDRIDK |
| 790 | 800 | 810 | 820 | 830 | 840 |
| ALMRPGRIDR | IIYVPLPDAA | TRREIFKLQF | HSMPVSNEVD | LDELILQTDA | YSGAEIVAVC |
| 850 | 860 | 870 | 880 | 890 | |
| REAALLALEE | DIQANLIMKR | HFTQALSTVT | PRIPESLRRF | YEDYQEKSGL | HTL |