CHROM stringclasses 37
values | POS int64 15 249M | ID stringlengths 1 7 | REF stringlengths 1 9.98k | ALT stringlengths 1 9.97k ⌀ | QUAL stringclasses 0
values | FILTER stringclasses 0
values | AF_ESP stringlengths 7 7 ⌀ | AF_EXAC stringlengths 7 7 ⌀ | AF_TGP stringlengths 7 7 ⌀ | ALLELEID stringlengths 5 7 | CLNDN stringlengths 3 1.02k ⌀ | CLNDNINCL stringclasses 639
values | CLNDISDB stringlengths 3 4.72k ⌀ | CLNDISDBINCL stringclasses 576
values | CLNHGVS stringlengths 19 924 ⌀ | CLNREVSTAT stringclasses 9
values | CLNSIG stringclasses 102
values | CLNSIGCONF stringlengths 23 141 ⌀ | CLNSIGINCL stringlengths 11 1.43k ⌀ | CLNSIGSCV stringlengths 12 935 ⌀ | CLNVC stringclasses 8
values | CLNVCSO stringclasses 8
values | CLNVI stringlengths 16 765 ⌀ | DBVARID stringclasses 153
values | GENEINFO stringlengths 6 172 ⌀ | MC stringclasses 690
values | ONCDN stringclasses 42
values | ONCDNINCL stringclasses 0
values | ONCDISDB stringclasses 41
values | ONCDISDBINCL stringclasses 0
values | ONC stringclasses 7
values | ONCINCL stringclasses 0
values | ONCREVSTAT stringclasses 5
values | ONCSCV stringlengths 12 25 ⌀ | ONCCONF stringclasses 1
value | ORIGIN stringclasses 73
values | RS stringlengths 3 32 ⌀ | SCIDN stringclasses 322
values | SCIDNINCL stringclasses 0
values | SCIDISDB stringclasses 318
values | SCIDISDBINCL stringclasses 0
values | SCIREVSTAT stringclasses 4
values | SCI stringclasses 5
values | SCIINCL stringclasses 0
values | SCISCV stringlengths 12 220 ⌀ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | 66,926 | 3385321 | AG | A | null | null | null | null | null | 3544463 | Retinitis_pigmentosa | null | Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791 | null | NC_000001.10:g.66927del | criteria_provided,_single_submitter | Uncertain_significance | null | null | SCV005419006 | Deletion | SO:0000159 | null | null | OR4F5:79501 | SO:0001627|intron_variant | null | null | null | null | null | null | null | null | null | 0 | null | null | null | null | null | null | null | null | null |
1 | 69,134 | 2205837 | A | G | null | null | null | null | null | 2193183 | not_specified | null | MedGen:CN169374 | null | NC_000001.10:g.69134A>G | criteria_provided,_single_submitter | Likely_benign | null | null | SCV003526545 | single_nucleotide_variant | SO:0001483 | ClinGen:CA502008 | null | OR4F5:79501 | SO:0001583|missense_variant | null | null | null | null | null | null | null | null | null | 1 | 781394307 | null | null | null | null | null | null | null | null |
1 | 69,241 | 4562067 | C | T | null | null | null | null | null | 4679177 | not_specified | null | MedGen:CN169374 | null | NC_000001.10:g.69241C>T | criteria_provided,_single_submitter | Uncertain_significance | null | null | SCV007161121 | single_nucleotide_variant | SO:0001483 | null | null | OR4F5:79501 | SO:0001583|missense_variant | null | null | null | null | null | null | null | null | null | 1 | null | null | null | null | null | null | null | null | null |
1 | 69,308 | 3925305 | A | G | null | null | null | null | null | 4039319 | not_specified | null | MedGen:CN169374 | null | NC_000001.10:g.69308A>G | criteria_provided,_single_submitter | Uncertain_significance | null | null | SCV006120601 | single_nucleotide_variant | SO:0001483 | null | null | OR4F5:79501 | SO:0001583|missense_variant | null | null | null | null | null | null | null | null | null | 1 | null | null | null | null | null | null | null | null | null |
1 | 69,314 | 3205580 | T | G | null | null | null | null | null | 3374047 | not_specified | null | MedGen:CN169374 | null | NC_000001.10:g.69314T>G | criteria_provided,_single_submitter | Uncertain_significance | null | null | SCV004995495 | single_nucleotide_variant | SO:0001483 | ClinGen:CA338197388 | null | OR4F5:79501 | SO:0001583|missense_variant | null | null | null | null | null | null | null | null | null | 1 | 2521653848 | null | null | null | null | null | null | null | null |
1 | 69,404 | 3925306 | T | C | null | null | null | null | null | 4039320 | not_specified | null | MedGen:CN169374 | null | NC_000001.10:g.69404T>C | criteria_provided,_single_submitter | Uncertain_significance | null | null | SCV006120602 | single_nucleotide_variant | SO:0001483 | null | null | OR4F5:79501 | SO:0001583|missense_variant | null | null | null | null | null | null | null | null | null | 1 | null | null | null | null | null | null | null | null | null |
1 | 69,416 | 4832091 | T | C | null | null | null | null | null | 4943860 | not_specified | null | MedGen:CN169374 | null | NC_000001.10:g.69416T>C | criteria_provided,_single_submitter | Uncertain_significance | null | null | SCV007564637 | single_nucleotide_variant | SO:0001483 | null | null | OR4F5:79501 | SO:0001583|missense_variant | null | null | null | null | null | null | null | null | null | 1 | null | null | null | null | null | null | null | null | null |
1 | 69,423 | 3205581 | G | A | null | null | null | null | null | 3374048 | not_specified | null | MedGen:CN169374 | null | NC_000001.10:g.69423G>A | criteria_provided,_single_submitter | Uncertain_significance | null | null | SCV004995496 | single_nucleotide_variant | SO:0001483 | ClinGen:CA338197763 | null | OR4F5:79501 | SO:0001583|missense_variant | null | null | null | null | null | null | null | null | null | 1 | 2521654033 | null | null | null | null | null | null | null | null |
1 | 69,506 | 4127217 | C | G | null | null | null | null | null | 4241534 | not_specified | null | MedGen:CN169374 | null | NC_000001.10:g.69506C>G | criteria_provided,_single_submitter | Uncertain_significance | null | null | SCV006383905 | single_nucleotide_variant | SO:0001483 | null | null | OR4F5:79501 | SO:0001583|missense_variant | null | null | null | null | null | null | null | null | null | 1 | null | null | null | null | null | null | null | null | null |
1 | 69,581 | 2252161 | C | G | null | null | null | null | null | 2238986 | not_specified | null | MedGen:CN169374 | null | NC_000001.10:g.69581C>G | criteria_provided,_single_submitter | Uncertain_significance | null | null | SCV003584698 | single_nucleotide_variant | SO:0001483 | ClinGen:CA338198277 | null | OR4F5:79501 | SO:0001583|missense_variant | null | null | null | null | null | null | null | null | null | 1 | 1570409925 | null | null | null | null | null | null | null | null |
1 | 69,623 | 4127216 | T | C | null | null | null | null | null | 4241533 | not_specified | null | MedGen:CN169374 | null | NC_000001.10:g.69623T>C | criteria_provided,_single_submitter | Uncertain_significance | null | null | SCV006383904 | single_nucleotide_variant | SO:0001483 | null | null | OR4F5:79501 | SO:0001583|missense_variant | null | null | null | null | null | null | null | null | null | 1 | null | null | null | null | null | null | null | null | null |
1 | 69,655 | 4562066 | G | C | null | null | null | null | null | 4679176 | not_specified | null | MedGen:CN169374 | null | NC_000001.10:g.69655G>C | criteria_provided,_single_submitter | Uncertain_significance | null | null | SCV007161120 | single_nucleotide_variant | SO:0001483 | null | null | OR4F5:79501 | SO:0001583|missense_variant | null | null | null | null | null | null | null | null | null | 1 | null | null | null | null | null | null | null | null | null |
1 | 69,682 | 2396347 | G | A | null | null | null | 0.00007 | null | 2386655 | not_specified | null | MedGen:CN169374 | null | NC_000001.10:g.69682G>A | criteria_provided,_single_submitter | Uncertain_significance | null | null | SCV003739621 | single_nucleotide_variant | SO:0001483 | ClinGen:CA502063 | null | OR4F5:79501 | SO:0001583|missense_variant | null | null | null | null | null | null | null | null | null | 1 | 766444643 | null | null | null | null | null | null | null | null |
1 | 69,731 | 3205582 | T | C | null | null | null | null | null | 3374049 | not_specified | null | MedGen:CN169374 | null | NC_000001.10:g.69731T>C | criteria_provided,_single_submitter | Uncertain_significance | null | null | SCV004995497 | single_nucleotide_variant | SO:0001483 | ClinGen:CA338198606 | null | OR4F5:79501 | SO:0001583|missense_variant | null | null | null | null | null | null | null | null | null | 1 | 1224500596 | null | null | null | null | null | null | null | null |
1 | 69,769 | 2288999 | T | C | null | null | null | null | null | 2278803 | not_specified | null | MedGen:CN169374 | null | NC_000001.10:g.69769T>C | criteria_provided,_single_submitter | Uncertain_significance | null | null | SCV003620560 | single_nucleotide_variant | SO:0001483 | ClinGen:CA338198691 | null | OR4F5:79501 | SO:0001583|missense_variant | null | null | null | null | null | null | null | null | null | 1 | 2521655946 | null | null | null | null | null | null | null | null |
1 | 69,956 | 4127215 | C | T | null | null | null | null | null | 4241532 | not_specified | null | MedGen:CN169374 | null | NC_000001.10:g.69956C>T | criteria_provided,_single_submitter | Uncertain_significance | null | null | SCV006383903 | single_nucleotide_variant | SO:0001483 | null | null | OR4F5:79501 | SO:0001583|missense_variant | null | null | null | null | null | null | null | null | null | 1 | null | null | null | null | null | null | null | null | null |
1 | 69,989 | 3925307 | A | C | null | null | null | null | null | 4039321 | not_specified | null | MedGen:CN169374 | null | NC_000001.10:g.69989A>C | criteria_provided,_single_submitter | Uncertain_significance | null | null | SCV006120603 | single_nucleotide_variant | SO:0001483 | null | null | OR4F5:79501 | SO:0001583|missense_variant | null | null | null | null | null | null | null | null | null | 1 | null | null | null | null | null | null | null | null | null |
1 | 69,995 | 2351346 | G | C | null | null | null | null | null | 2333177 | not_specified | null | MedGen:CN169374 | null | NC_000001.10:g.69995G>C | criteria_provided,_single_submitter | Uncertain_significance | null | null | SCV003688488 | single_nucleotide_variant | SO:0001483 | ClinGen:CA502093 | null | OR4F5:79501 | SO:0001583|missense_variant | null | null | null | null | null | null | null | null | null | 1 | 778633020 | null | null | null | null | null | null | null | null |
1 | 139,320 | 4506524 | C | G | null | null | null | null | null | 4614711 | null | null | null | null | NC_000001.10:g.139320C>G | null | null | null | null | null | single_nucleotide_variant | SO:0001483 | null | null | LOC729737:729737 | SO:0001619|non-coding_transcript_variant | null | null | null | null | null | null | null | null | null | 0 | null | null | null | null | null | null | null | null | null |
1 | 139,847 | 4506682 | C | G | null | null | null | null | null | 4614869 | null | null | null | null | NC_000001.10:g.139847C>G | null | null | null | null | null | single_nucleotide_variant | SO:0001483 | null | null | LOC729737:729737 | SO:0001619|non-coding_transcript_variant | null | null | null | null | null | null | null | null | null | 0 | null | null | null | null | null | null | null | null | null |
1 | 701,779 | 4286633 | GAATA | G | null | null | null | null | null | 4396470 | null | null | null | null | NC_000001.10:g.701780AATA[1] | null | null | null | null | null | Microsatellite | SO:0000289 | null | null | LOC100288069:100288069 | null | null | null | null | null | null | null | null | null | null | 0 | null | null | null | null | null | null | null | null | null |
1 | 713,442 | 4501594 | T | C | null | null | null | null | null | 4623664 | null | null | null | null | NC_000001.10:g.713442T>C | null | null | null | null | null | single_nucleotide_variant | SO:0001483 | null | null | LOC100288069:100288069 | null | null | null | null | null | null | null | null | null | null | 0 | null | null | null | null | null | null | null | null | null |
1 | 744,664 | 3892489 | T | TGGTCAATCA | null | null | null | null | null | 4008375 | Brown-Vialetto-van_Laere_syndrome_1|Progressive_bulbar_palsy_of_childhood | null | MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530,Orphanet:572543,Orphanet:97229|MONDO:MONDO:0100428,MedGen:C0393540,OMIM:211500 | null | NC_000001.10:g.744669_744670insATCAGGTCA | criteria_provided,_single_submitter | Benign | null | null | SCV006059617 | Insertion | SO:0000667 | null | null | LINC01409:105378580 | null | null | null | null | null | null | null | null | null | null | 1 | null | null | null | null | null | null | null | null | null |
1 | 754,063 | 4466395 | G | T | null | null | null | null | null | 4577103 | null | null | null | null | NC_000001.10:g.754063G>T | null | null | null | null | null | single_nucleotide_variant | SO:0001483 | null | null | FAM87B:400728 | SO:0001627|intron_variant | null | null | null | null | null | null | null | null | null | 0 | null | null | null | null | null | null | null | null | null |
1 | 809,430 | 4473043 | C | A | null | null | null | null | null | 4578572 | null | null | null | null | NC_000001.10:g.809430C>A | null | null | null | null | null | single_nucleotide_variant | SO:0001483 | null | null | FAM41C:284593 | SO:0001627|intron_variant | null | null | null | null | null | null | null | null | null | 0 | null | null | null | null | null | null | null | null | null |
1 | 853,130 | 4474871 | G | A | null | null | null | null | null | 4589453 | null | null | null | null | NC_000001.10:g.853130G>A | null | null | null | null | null | single_nucleotide_variant | SO:0001483 | null | null | LINC02593:100130417 | SO:0001627|intron_variant | null | null | null | null | null | null | null | null | null | 0 | null | null | null | null | null | null | null | null | null |
1 | 853,217 | 4474881 | G | A | null | null | null | null | null | 4589463 | null | null | null | null | NC_000001.10:g.853217G>A | null | null | null | null | null | single_nucleotide_variant | SO:0001483 | null | null | LINC02593:100130417 | SO:0001627|intron_variant | null | null | null | null | null | null | null | null | null | 0 | null | null | null | null | null | null | null | null | null |
1 | 853,267 | 4474889 | G | T | null | null | null | null | null | 4589471 | null | null | null | null | NC_000001.10:g.853267G>T | null | null | null | null | null | single_nucleotide_variant | SO:0001483 | null | null | LINC02593:100130417 | SO:0001627|intron_variant | null | null | null | null | null | null | null | null | null | 0 | null | null | null | null | null | null | null | null | null |
1 | 859,898 | 3388928 | G | C | null | null | null | null | null | 3548054 | not_provided | null | MedGen:C3661900 | null | NC_000001.10:g.859898G>C | criteria_provided,_single_submitter | Likely_benign | null | null | SCV005435063 | single_nucleotide_variant | SO:0001483 | null | null | SAMD11:148398|LOC107985728:107985728 | SO:0001819|synonymous_variant | null | null | null | null | null | null | null | null | null | 1 | null | null | null | null | null | null | null | null | null |
1 | 861,326 | 1924157 | C | G | null | null | null | 0.00001 | null | 1983057 | not_specified|not_provided | null | MedGen:CN169374|MedGen:C3661900 | null | NC_000001.10:g.861326C>G | criteria_provided,_multiple_submitters,_no_conflicts | Uncertain_significance | null | null | SCV002959971|SCV006420767 | single_nucleotide_variant | SO:0001483 | ClinGen:CA502379 | null | SAMD11:148398 | SO:0001583|missense_variant | null | null | null | null | null | null | null | null | null | 1 | 761145583 | null | null | null | null | null | null | null | null |
1 | 861,332 | 1019397 | G | A | null | null | null | null | null | 1003021 | not_provided | null | MedGen:C3661900 | null | NC_000001.10:g.861332G>A | criteria_provided,_single_submitter | Uncertain_significance | null | null | SCV001509541 | single_nucleotide_variant | SO:0001483 | ClinGen:CA337788218 | null | SAMD11:148398 | SO:0001583|missense_variant | null | null | null | null | null | null | null | null | null | 1 | 1640863258 | null | null | null | null | null | null | null | null |
1 | 861,336 | 1543320 | C | T | null | null | null | null | null | 1632777 | not_provided | null | MedGen:C3661900 | null | NC_000001.10:g.861336C>T | criteria_provided,_single_submitter | Likely_benign | null | null | SCV002335012 | single_nucleotide_variant | SO:0001483 | ClinGen:CA415378520 | null | SAMD11:148398 | SO:0001819|synonymous_variant | null | null | null | null | null | null | null | null | null | 1 | 1342334044 | null | null | null | null | null | null | null | null |
1 | 861,341 | 2069387 | A | T | null | null | null | 0.00001 | null | 2129477 | not_provided | null | MedGen:C3661900 | null | NC_000001.10:g.861341A>T | criteria_provided,_single_submitter | Uncertain_significance | null | null | SCV003279406 | single_nucleotide_variant | SO:0001483 | ClinGen:CA502381 | null | SAMD11:148398 | SO:0001583|missense_variant | null | null | null | null | null | null | null | null | null | 1 | 754119496 | null | null | null | null | null | null | null | null |
1 | 861,349 | 1648427 | C | T | null | null | null | 0.00033 | null | 1600580 | not_provided | null | MedGen:C3661900 | null | NC_000001.10:g.861349C>T | criteria_provided,_single_submitter | Likely_benign | null | null | SCV002470140 | single_nucleotide_variant | SO:0001483 | ClinGen:CA502382 | null | SAMD11:148398 | SO:0001583|missense_variant | null | null | null | null | null | null | null | null | null | 1 | 200686669 | null | null | null | null | null | null | null | null |
1 | 861,356 | 1362713 | T | C | null | null | null | null | null | 1396033 | not_provided|not_specified | null | MedGen:C3661900|MedGen:CN169374 | null | NC_000001.10:g.861356T>C | criteria_provided,_multiple_submitters,_no_conflicts | Uncertain_significance | null | null | SCV002135030|SCV003616620 | single_nucleotide_variant | SO:0001483 | ClinGen:CA16702493 | null | SAMD11:148398 | SO:0001583|missense_variant | null | null | null | null | null | null | null | null | null | 1 | 1030245330 | null | null | null | null | null | null | null | null |
1 | 861,360 | 1936488 | C | T | null | null | null | null | null | 1986319 | not_provided | null | MedGen:C3661900 | null | NC_000001.10:g.861360C>T | criteria_provided,_single_submitter | Likely_benign | null | null | SCV002977672 | single_nucleotide_variant | SO:0001483 | ClinGen:CA16702505 | null | SAMD11:148398 | SO:0001819|synonymous_variant | null | null | null | null | null | null | null | null | null | 1 | 931465641 | null | null | null | null | null | null | null | null |
1 | 861,366 | 1568423 | C | T | null | null | null | null | null | 1570515 | not_provided | null | MedGen:C3661900 | null | NC_000001.10:g.861366C>T | criteria_provided,_single_submitter | Likely_benign | null | null | SCV002368344 | single_nucleotide_variant | SO:0001483 | ClinGen:CA415378554 | null | SAMD11:148398 | SO:0001819|synonymous_variant | null | null | null | null | null | null | null | null | null | 1 | 1640864832 | null | null | null | null | null | null | null | null |
1 | 861,383 | 1365270 | C | T | null | null | null | null | null | 1502313 | not_provided | null | MedGen:C3661900 | null | NC_000001.10:g.861383C>T | criteria_provided,_single_submitter | Uncertain_significance | null | null | SCV002135823 | single_nucleotide_variant | SO:0001483 | ClinGen:CA337788357 | null | SAMD11:148398 | SO:0001583|missense_variant | null | null | null | null | null | null | null | null | null | 1 | 1329301928 | null | null | null | null | null | null | null | null |
1 | 861,390 | 1632958 | G | T | null | null | null | null | null | 1545352 | not_provided | null | MedGen:C3661900 | null | NC_000001.10:g.861390G>T | criteria_provided,_single_submitter | Likely_benign | null | null | SCV002441628 | single_nucleotide_variant | SO:0001483 | ClinGen:CA415378577 | null | SAMD11:148398 | SO:0001819|synonymous_variant | null | null | null | null | null | null | null | null | null | 1 | 889842126 | null | null | null | null | null | null | null | null |
1 | 861,394 | 1377425 | G | A | null | null | null | null | null | 1473095 | not_provided | null | MedGen:C3661900 | null | NC_000001.10:g.861394G>A | criteria_provided,_single_submitter | Uncertain_significance | null | null | SCV002146992 | single_nucleotide_variant | SO:0001483 | ClinGen:CA337788387 | null | SAMD11:148398 | SO:0001575|splice_donor_variant | null | null | null | null | null | null | null | null | null | 1 | 2100289567 | null | null | null | null | null | null | null | null |
1 | 861,398 | 1979359 | G | A | null | null | null | null | null | 2034738 | not_provided | null | MedGen:C3661900 | null | NC_000001.10:g.861398G>A | criteria_provided,_single_submitter | Uncertain_significance | null | null | SCV003021351 | single_nucleotide_variant | SO:0001483 | ClinGen:CA415378589 | null | SAMD11:148398 | SO:0001627|intron_variant | null | null | null | null | null | null | null | null | null | 1 | 1374430336 | null | null | null | null | null | null | null | null |
1 | 861,402 | 4704304 | C | G | null | null | null | null | null | 4804963 | not_provided | null | MedGen:C3661900 | null | NC_000001.10:g.861402C>G | criteria_provided,_single_submitter | Likely_benign | null | null | SCV007363944 | single_nucleotide_variant | SO:0001483 | null | null | SAMD11:148398 | SO:0001627|intron_variant | null | null | null | null | null | null | null | null | null | 1 | null | null | null | null | null | null | null | null | null |
1 | 861,405 | 1555362 | G | A | null | null | null | null | null | 1550067 | not_provided | null | MedGen:C3661900 | null | NC_000001.10:g.861405G>A | criteria_provided,_single_submitter | Likely_benign | null | null | SCV002356033 | single_nucleotide_variant | SO:0001483 | ClinGen:CA415378617 | null | SAMD11:148398 | SO:0001627|intron_variant | null | null | null | null | null | null | null | null | null | 1 | 1569858266 | null | null | null | null | null | null | null | null |
1 | 861,406 | 2089674 | G | A | null | null | null | null | null | 2155344 | not_provided | null | MedGen:C3661900 | null | NC_000001.10:g.861406G>A | criteria_provided,_single_submitter | Likely_benign | null | null | SCV003306527 | single_nucleotide_variant | SO:0001483 | ClinGen:CA415378620 | null | SAMD11:148398 | SO:0001627|intron_variant | null | null | null | null | null | null | null | null | null | 1 | 942779903 | null | null | null | null | null | null | null | null |
1 | 861,406 | 2957935 | G | T | null | null | null | null | null | 3119147 | not_provided | null | MedGen:C3661900 | null | NC_000001.10:g.861406G>T | criteria_provided,_single_submitter | Likely_benign | null | null | SCV004614678 | single_nucleotide_variant | SO:0001483 | ClinGen:CA16702537 | null | SAMD11:148398 | SO:0001627|intron_variant | null | null | null | null | null | null | null | null | null | 1 | 942779903 | null | null | null | null | null | null | null | null |
1 | 861,407 | 1561208 | C | T | null | null | null | null | null | 1641615 | not_provided | null | MedGen:C3661900 | null | NC_000001.10:g.861407C>T | criteria_provided,_single_submitter | Likely_benign | null | null | SCV002351475 | single_nucleotide_variant | SO:0001483 | ClinGen:CA2573131892 | null | SAMD11:148398 | SO:0001627|intron_variant | null | null | null | null | null | null | null | null | null | 1 | 2100289613 | null | null | null | null | null | null | null | null |
1 | 861,409 | 1624593 | C | T | null | null | null | 0.00001 | null | 1629212 | not_provided | null | MedGen:C3661900 | null | NC_000001.10:g.861409C>T | criteria_provided,_single_submitter | Likely_benign | null | null | SCV002439574 | single_nucleotide_variant | SO:0001483 | ClinGen:CA502391 | null | SAMD11:148398 | SO:0001627|intron_variant | null | null | null | null | null | null | null | null | null | 1 | 755010695 | null | null | null | null | null | null | null | null |
1 | 865,461 | 3038970 | AGCCCCACCTTCCTCTCCTCCT | A | null | null | null | null | null | 3210071 | SAMD11-related_disorder | null | null | null | NC_000001.10:g.865470TTCCTCTCCTCCTGCCCCACC[2] | no_assertion_criteria_provided | Likely_benign | null | null | SCV004729521 | Microsatellite | SO:0000289 | ClinGen:CA16706905 | null | SAMD11:148398 | SO:0001627|intron_variant | null | null | null | null | null | null | null | null | null | 1 | 879326979 | null | null | null | null | null | null | null | null |
1 | 865,516 | 1541757 | T | C | null | null | null | null | null | 1631640 | not_provided | null | MedGen:C3661900 | null | NC_000001.10:g.865516T>C | criteria_provided,_single_submitter | Likely_benign | null | null | SCV002333478 | single_nucleotide_variant | SO:0001483 | ClinGen:CA2573132122 | null | SAMD11:148398 | SO:0001627|intron_variant | null | null | null | null | null | null | null | null | null | 1 | 2100306156 | null | null | null | null | null | null | null | null |
1 | 865,516 | 1658573 | TCTC | T | null | null | null | null | null | 1563949 | not_provided | null | MedGen:C3661900 | null | NC_000001.10:g.865519CCT[1] | criteria_provided,_single_submitter | Likely_benign | null | null | SCV002475192 | Microsatellite | SO:0000289 | ClinGen:CA502415 | null | SAMD11:148398 | SO:0001627|intron_variant | null | null | null | null | null | null | null | null | null | 1 | 759150188 | null | null | null | null | null | null | null | null |
1 | 865,519 | 1125147 | C | T | null | null | null | null | null | 1110865 | not_provided | null | MedGen:C3661900 | null | NC_000001.10:g.865519C>T | criteria_provided,_single_submitter | Likely_benign | null | null | SCV001660537 | single_nucleotide_variant | SO:0001483 | ClinGen:CA16706938 | null | SAMD11:148398 | SO:0001627|intron_variant | null | null | null | null | null | null | null | null | null | 1 | 909001616 | null | null | null | null | null | null | null | null |
1 | 865,528 | 4695301 | C | T | null | null | null | null | null | 4813110 | not_provided | null | MedGen:C3661900 | null | NC_000001.10:g.865528C>T | criteria_provided,_single_submitter | Likely_benign | null | null | SCV007352669 | single_nucleotide_variant | SO:0001483 | null | null | SAMD11:148398 | SO:0001627|intron_variant | null | null | null | null | null | null | null | null | null | 1 | null | null | null | null | null | null | null | null | null |
1 | 865,538 | 1502618 | C | T | null | null | null | null | null | 1514722 | not_provided | null | MedGen:C3661900 | null | NC_000001.10:g.865538C>T | criteria_provided,_single_submitter | Uncertain_significance | null | null | SCV002287829 | single_nucleotide_variant | SO:0001483 | ClinGen:CA337791201 | null | SAMD11:148398 | SO:0001583|missense_variant | null | null | null | null | null | null | null | null | null | 1 | 1381099827 | null | null | null | null | null | null | null | null |
1 | 865,543 | 1547384 | G | A | null | null | null | 0.00029 | null | 1571927 | not_provided|SAMD11-related_disorder | null | MedGen:C3661900|. | null | NC_000001.10:g.865543G>A | criteria_provided,_single_submitter | Likely_benign | null | null | SCV002342681 | single_nucleotide_variant | SO:0001483 | ClinGen:CA502417 | null | SAMD11:148398 | SO:0001819|synonymous_variant | null | null | null | null | null | null | null | null | null | 1 | 370992396 | null | null | null | null | null | null | null | null |
1 | 865,544 | 1923853 | C | T | null | null | null | null | 0.00020 | 1986633 | not_provided | null | MedGen:C3661900 | null | NC_000001.10:g.865544C>T | criteria_provided,_single_submitter | Uncertain_significance | null | null | SCV002967397 | single_nucleotide_variant | SO:0001483 | ClinGen:CA16706941 | null | SAMD11:148398 | SO:0001583|missense_variant | null | null | null | null | null | null | null | null | null | 1 | 144245409 | null | null | null | null | null | null | null | null |
1 | 865,545 | 1164676 | G | A | null | null | null | 0.00102 | 0.00280 | 1153701 | SAMD11-related_disorder|not_provided | null | .|MedGen:C3661900 | null | NC_000001.10:g.865545G>A | criteria_provided,_single_submitter | Benign | null | null | SCV001718056 | single_nucleotide_variant | SO:0001483 | ClinGen:CA502418 | null | SAMD11:148398 | SO:0001583|missense_variant | null | null | null | null | null | null | null | null | null | 1 | 201186828 | null | null | null | null | null | null | null | null |
1 | 865,563 | 3436941 | C | T | null | null | null | null | null | 3594678 | not_specified | null | MedGen:CN169374 | null | NC_000001.10:g.865563C>T | criteria_provided,_single_submitter | Uncertain_significance | null | null | SCV005501028 | single_nucleotide_variant | SO:0001483 | null | null | SAMD11:148398 | SO:0001583|missense_variant | null | null | null | null | null | null | null | null | null | 1 | null | null | null | null | null | null | null | null | null |
1 | 865,566 | 1365924 | T | C | null | null | null | null | null | 1398914 | not_provided | null | MedGen:C3661900 | null | NC_000001.10:g.865566T>C | criteria_provided,_single_submitter | Uncertain_significance | null | null | SCV002132622 | single_nucleotide_variant | SO:0001483 | ClinGen:CA502420 | null | SAMD11:148398 | SO:0001583|missense_variant | null | null | null | null | null | null | null | null | null | 1 | 776075841 | null | null | null | null | null | null | null | null |
1 | 865,567 | 1144630 | C | T | null | null | 0.00016 | 0.00005 | null | 1131738 | not_provided | null | MedGen:C3661900 | null | NC_000001.10:g.865567C>T | criteria_provided,_single_submitter | Likely_benign | null | null | SCV001687553 | single_nucleotide_variant | SO:0001483 | ClinGen:CA502421 | null | SAMD11:148398 | SO:0001819|synonymous_variant | null | null | null | null | null | null | null | null | null | 1 | 375780070 | null | null | null | null | null | null | null | null |
1 | 865,568 | 846933 | G | A | null | null | null | 0.00000 | null | 824438 | not_provided | null | MedGen:C3661900 | null | NC_000001.10:g.865568G>A | criteria_provided,_single_submitter | Uncertain_significance | null | null | SCV001214463 | single_nucleotide_variant | SO:0001483 | ClinGen:CA502422 | null | SAMD11:148398 | SO:0001583|missense_variant | null | null | null | null | null | null | null | null | null | 1 | 770001898 | null | null | null | null | null | null | null | null |
1 | 865,569 | 1478180 | C | T | null | null | null | 0.00014 | null | 1351687 | not_provided | null | MedGen:C3661900 | null | NC_000001.10:g.865569C>T | criteria_provided,_single_submitter | Uncertain_significance | null | null | SCV002257665 | single_nucleotide_variant | SO:0001483 | ClinGen:CA502423 | null | SAMD11:148398 | SO:0001583|missense_variant | null | null | null | null | null | null | null | null | null | 1 | 776005293 | null | null | null | null | null | null | null | null |
1 | 865,575 | 1380424 | C | G | null | null | null | null | null | 1421246 | not_provided | null | MedGen:C3661900 | null | NC_000001.10:g.865575C>G | criteria_provided,_single_submitter | Uncertain_significance | null | null | SCV002148148 | single_nucleotide_variant | SO:0001483 | ClinGen:CA16706953 | null | SAMD11:148398 | SO:0001583|missense_variant | null | null | null | null | null | null | null | null | null | 1 | 143052291 | null | null | null | null | null | null | null | null |
1 | 865,575 | 1354167 | C | T | null | null | 0.00008 | 0.00004 | null | 1341285 | not_provided | null | MedGen:C3661900 | null | NC_000001.10:g.865575C>T | criteria_provided,_single_submitter | Uncertain_significance | null | null | SCV002119226 | single_nucleotide_variant | SO:0001483 | ClinGen:CA502424 | null | SAMD11:148398 | SO:0001583|missense_variant | null | null | null | null | null | null | null | null | null | 1 | 143052291 | null | null | null | null | null | null | null | null |
1 | 865,579 | 1095790 | C | T | null | null | null | 0.00004 | null | 1067609 | not_provided | null | MedGen:C3661900 | null | NC_000001.10:g.865579C>T | criteria_provided,_single_submitter | Likely_benign | null | null | SCV001619000 | single_nucleotide_variant | SO:0001483 | ClinGen:CA502425 | null | SAMD11:148398 | SO:0001819|synonymous_variant | null | null | null | null | null | null | null | null | null | 1 | 764574771 | null | null | null | null | null | null | null | null |
1 | 865,580 | 1043045 | G | A | null | null | 0.00039 | 0.00038 | null | 1023510 | not_provided|not_specified | null | MedGen:C3661900|MedGen:CN169374 | null | NC_000001.10:g.865580G>A | criteria_provided,_conflicting_classifications | Conflicting_classifications_of_pathogenicity | Uncertain_significance(1)|Likely_benign(1) | null | SCV001541340|SCV003595924 | single_nucleotide_variant | SO:0001483 | ClinGen:CA502426 | null | SAMD11:148398 | SO:0001583|missense_variant | null | null | null | null | null | null | null | null | null | 1 | 368250686 | null | null | null | null | null | null | null | null |
1 | 865,581 | 2012623 | C | T | null | null | null | null | null | 2074412 | not_provided | null | MedGen:C3661900 | null | NC_000001.10:g.865581C>T | criteria_provided,_single_submitter | Uncertain_significance | null | null | SCV003211500 | single_nucleotide_variant | SO:0001483 | ClinGen:CA502427 | null | SAMD11:148398 | SO:0001583|missense_variant | null | null | null | null | null | null | null | null | null | 1 | 761732159 | null | null | null | null | null | null | null | null |
1 | 865,583 | 972363 | C | T | null | null | null | 0.00008 | null | 959431 | not_specified|not_provided | null | MedGen:CN169374|MedGen:C3661900 | null | NC_000001.10:g.865583C>T | criteria_provided,_multiple_submitters,_no_conflicts | Uncertain_significance | null | null | SCV001421864|SCV003757112 | single_nucleotide_variant | SO:0001483 | ClinGen:CA502428 | null | SAMD11:148398 | SO:0001583|missense_variant | null | null | null | null | null | null | null | null | null | 1 | 767794127 | null | null | null | null | null | null | null | null |
1 | 865,584 | 1170208 | G | A | null | null | 0.01083 | 0.00595 | 0.01098 | 1153702 | SAMD11-related_disorder|not_provided | null | .|MedGen:C3661900 | null | NC_000001.10:g.865584G>A | criteria_provided,_multiple_submitters,_no_conflicts | Benign | null | null | SCV001731891|SCV005281923 | single_nucleotide_variant | SO:0001483 | ClinGen:CA502429 | null | SAMD11:148398 | SO:0001583|missense_variant | null | null | null | null | null | null | null | null | null | 1 | 148711625 | null | null | null | null | null | null | null | null |
1 | 865,589 | 1653547 | C | T | null | null | null | null | null | 1548120 | not_provided | null | MedGen:C3661900 | null | NC_000001.10:g.865589C>T | criteria_provided,_single_submitter | Likely_benign | null | null | SCV002475646 | single_nucleotide_variant | SO:0001483 | ClinGen:CA415379535 | null | SAMD11:148398 | SO:0001819|synonymous_variant | null | null | null | null | null | null | null | null | null | 1 | 2100306465 | null | null | null | null | null | null | null | null |
1 | 865,590 | 2059344 | TGAA | T | null | null | null | null | null | 2117203 | not_provided | null | MedGen:C3661900 | null | NC_000001.10:g.865592AAG[1] | criteria_provided,_single_submitter | Uncertain_significance | null | null | SCV003270959 | Microsatellite | SO:0000289 | ClinGen:CA520604287 | null | SAMD11:148398 | SO:0001822|inframe_deletion | null | null | null | null | null | null | null | null | null | 1 | 1181839556 | null | null | null | null | null | null | null | null |
1 | 865,592 | 3949370 | A | C | null | null | null | null | null | 4065956 | not_specified | null | MedGen:CN169374 | null | NC_000001.10:g.865592A>C | criteria_provided,_single_submitter | Uncertain_significance | null | null | SCV006159545 | single_nucleotide_variant | SO:0001483 | null | null | SAMD11:148398 | SO:0001583|missense_variant | null | null | null | null | null | null | null | null | null | 1 | null | null | null | null | null | null | null | null | null |
1 | 865,595 | 1409578 | A | G | null | null | null | null | null | 1340647 | not_provided | null | MedGen:C3661900 | null | NC_000001.10:g.865595A>G | criteria_provided,_single_submitter | Uncertain_significance | null | null | SCV002186738 | single_nucleotide_variant | SO:0001483 | ClinGen:CA16706980 | null | SAMD11:148398 | SO:0001583|missense_variant | null | null | null | null | null | null | null | null | null | 1 | 903331232 | null | null | null | null | null | null | null | null |
1 | 865,598 | 1523336 | G | A | null | null | null | null | null | 1350505 | not_provided | null | MedGen:C3661900 | null | NC_000001.10:g.865598G>A | criteria_provided,_single_submitter | Uncertain_significance | null | null | SCV002314466 | single_nucleotide_variant | SO:0001483 | ClinGen:CA337791560 | null | SAMD11:148398 | SO:0001583|missense_variant | null | null | null | null | null | null | null | null | null | 1 | 1157485345 | null | null | null | null | null | null | null | null |
1 | 865,600 | 1667751 | G | A | null | null | null | null | null | 1657034 | not_provided | null | MedGen:C3661900 | null | NC_000001.10:g.865600G>A | criteria_provided,_single_submitter | Likely_benign | null | null | SCV002482363 | single_nucleotide_variant | SO:0001483 | ClinGen:CA415379551 | null | SAMD11:148398 | SO:0001819|synonymous_variant | null | null | null | null | null | null | null | null | null | 1 | 2100306518 | null | null | null | null | null | null | null | null |
1 | 865,601 | 2133131 | C | T | null | null | null | null | null | 2191970 | not_provided | null | MedGen:C3661900 | null | NC_000001.10:g.865601C>T | criteria_provided,_single_submitter | Uncertain_significance | null | null | SCV003350547 | single_nucleotide_variant | SO:0001483 | ClinGen:CA337791585 | null | SAMD11:148398 | SO:0001587|nonsense | null | null | null | null | null | null | null | null | null | 1 | 934852613 | null | null | null | null | null | null | null | null |
1 | 865,602 | 998906 | GAACTC | TTCTTCTG | null | null | null | null | null | 987768 | not_provided | null | MedGen:C3661900 | null | NC_000001.10:g.865602_865607delinsTTCTTCTG | criteria_provided,_single_submitter | Uncertain_significance | null | null | SCV001483722 | Indel | SO:1000032 | ClinGen:CA1148682029 | null | SAMD11:148398 | SO:0001589|frameshift_variant | null | null | null | null | null | null | null | null | null | 1 | 1641106338 | null | null | null | null | null | null | null | null |
1 | 865,606 | 2081213 | T | G | null | null | null | 0.00003 | null | 2143012 | not_provided | null | MedGen:C3661900 | null | NC_000001.10:g.865606T>G | criteria_provided,_single_submitter | Likely_benign | null | null | SCV003297991 | single_nucleotide_variant | SO:0001483 | ClinGen:CA502433 | null | SAMD11:148398 | SO:0001819|synonymous_variant | null | null | null | null | null | null | null | null | null | 1 | 752517447 | null | null | null | null | null | null | null | null |
1 | 865,608 | 1715702 | C | G | null | null | null | null | null | 1773647 | not_provided | null | MedGen:C3661900 | null | NC_000001.10:g.865608C>G | criteria_provided,_single_submitter | Uncertain_significance | null | null | SCV002590433 | single_nucleotide_variant | SO:0001483 | ClinGen:CA337791648 | null | SAMD11:148398 | SO:0001583|missense_variant | null | null | null | null | null | null | null | null | null | 1 | 2522623881 | null | null | null | null | null | null | null | null |
1 | 865,610 | 2122561 | A | G | null | null | null | null | null | 2184321 | not_provided | null | MedGen:C3661900 | null | NC_000001.10:g.865610A>G | criteria_provided,_single_submitter | Uncertain_significance | null | null | SCV003340423 | single_nucleotide_variant | SO:0001483 | ClinGen:CA337791656 | null | SAMD11:148398 | SO:0001583|missense_variant | null | null | null | null | null | null | null | null | null | 1 | 1365703744 | null | null | null | null | null | null | null | null |
1 | 865,615 | 2876353 | C | T | null | null | null | null | null | 3035623 | not_provided | null | MedGen:C3661900 | null | NC_000001.10:g.865615C>T | criteria_provided,_single_submitter | Likely_benign | null | null | SCV004477288 | single_nucleotide_variant | SO:0001483 | ClinGen:CA415379568 | null | SAMD11:148398 | SO:0001819|synonymous_variant | null | null | null | null | null | null | null | null | null | 1 | 1641106936 | null | null | null | null | null | null | null | null |
1 | 865,623 | 1497763 | G | A | null | null | null | null | null | 1376283 | not_provided | null | MedGen:C3661900 | null | NC_000001.10:g.865623G>A | criteria_provided,_single_submitter | Uncertain_significance | null | null | SCV002283214 | single_nucleotide_variant | SO:0001483 | ClinGen:CA337791760 | null | SAMD11:148398 | SO:0001583|missense_variant | null | null | null | null | null | null | null | null | null | 1 | 758467926 | null | null | null | null | null | null | null | null |
1 | 865,625 | 1131472 | G | A | null | null | 0.00069 | 0.00066 | 0.00140 | 1110866 | not_provided|SAMD11-related_disorder|not_specified | null | MedGen:C3661900|.|MedGen:CN169374 | null | NC_000001.10:g.865625G>A | criteria_provided,_conflicting_classifications | Conflicting_classifications_of_pathogenicity | Uncertain_significance(1)|Likely_benign(1) | null | SCV001669353|SCV006420778 | single_nucleotide_variant | SO:0001483 | ClinGen:CA502436 | null | SAMD11:148398 | SO:0001583|missense_variant | null | null | null | null | null | null | null | null | null | 1 | 146327803 | null | null | null | null | null | null | null | null |
1 | 865,627 | 1145077 | T | C | null | null | null | 0.00004 | null | 1131739 | not_provided | null | MedGen:C3661900 | null | NC_000001.10:g.865627T>C | criteria_provided,_single_submitter | Likely_benign | null | null | SCV001688191 | single_nucleotide_variant | SO:0001483 | ClinGen:CA502437 | null | SAMD11:148398 | SO:0001819|synonymous_variant | null | null | null | null | null | null | null | null | null | 1 | 756661577 | null | null | null | null | null | null | null | null |
1 | 865,628 | 789256 | G | A | null | null | 0.00347 | 0.00622 | 0.00280 | 707587 | SAMD11-related_disorder|not_provided | null | .|MedGen:C3661900 | null | NC_000001.10:g.865628G>A | criteria_provided,_multiple_submitters,_no_conflicts | Likely_benign | null | null | SCV001119512|SCV005257959 | single_nucleotide_variant | SO:0001483 | ClinGen:CA502438 | null | SAMD11:148398 | SO:0001583|missense_variant | null | null | null | null | null | null | null | null | null | 1 | 41285790 | null | null | null | null | null | null | null | null |
1 | 865,633 | 3791854 | C | A | null | null | null | null | null | 3906510 | not_specified | null | MedGen:CN169374 | null | NC_000001.10:g.865633C>A | criteria_provided,_single_submitter | Uncertain_significance | null | null | SCV005933538 | single_nucleotide_variant | SO:0001483 | null | null | SAMD11:148398 | SO:0001583|missense_variant | null | null | null | null | null | null | null | null | null | 1 | null | null | null | null | null | null | null | null | null |
1 | 865,636 | 2998369 | C | T | null | null | null | null | null | 3159961 | not_provided | null | MedGen:C3661900 | null | NC_000001.10:g.865636C>T | criteria_provided,_single_submitter | Likely_benign | null | null | SCV004660769 | single_nucleotide_variant | SO:0001483 | ClinGen:CA16707039 | null | SAMD11:148398 | SO:0001819|synonymous_variant | null | null | null | null | null | null | null | null | null | 1 | 1023405473 | null | null | null | null | null | null | null | null |
1 | 865,637 | 3949366 | G | A | null | null | null | null | null | 4065952 | not_specified | null | MedGen:CN169374 | null | NC_000001.10:g.865637G>A | criteria_provided,_single_submitter | Uncertain_significance | null | null | SCV006159532 | single_nucleotide_variant | SO:0001483 | null | null | SAMD11:148398 | SO:0001583|missense_variant | null | null | null | null | null | null | null | null | null | 1 | null | null | null | null | null | null | null | null | null |
1 | 865,639 | 1652015 | C | T | null | null | null | 0.00003 | null | 1613241 | not_provided | null | MedGen:C3661900 | null | NC_000001.10:g.865639C>T | criteria_provided,_single_submitter | Likely_benign | null | null | SCV002470652 | single_nucleotide_variant | SO:0001483 | ClinGen:CA502441 | null | SAMD11:148398 | SO:0001819|synonymous_variant | null | null | null | null | null | null | null | null | null | 1 | 780458271 | null | null | null | null | null | null | null | null |
1 | 865,640 | 1499045 | G | A | null | null | null | null | null | 1488790 | not_provided | null | MedGen:C3661900 | null | NC_000001.10:g.865640G>A | criteria_provided,_single_submitter | Uncertain_significance | null | null | SCV002279134 | single_nucleotide_variant | SO:0001483 | ClinGen:CA502442 | null | SAMD11:148398 | SO:0001583|missense_variant | null | null | null | null | null | null | null | null | null | 1 | 749652698 | null | null | null | null | null | null | null | null |
1 | 865,641 | 2631721 | G | A | null | null | null | null | null | 2801254 | SAMD11-related_disorder | null | null | null | NC_000001.10:g.865641G>A | criteria_provided,_single_submitter | Uncertain_significance | null | null | SCV004103189 | single_nucleotide_variant | SO:0001483 | ClinGen:CA337791936 | null | SAMD11:148398 | SO:0001583|missense_variant | null | null | null | null | null | null | null | null | null | 1 | 2100306794 | null | null | null | null | null | null | null | null |
1 | 865,641 | 1473769 | G | C | null | null | null | null | null | 1387765 | not_provided | null | MedGen:C3661900 | null | NC_000001.10:g.865641G>C | criteria_provided,_single_submitter | Uncertain_significance | null | null | SCV002265196 | single_nucleotide_variant | SO:0001483 | ClinGen:CA337791940 | null | SAMD11:148398 | SO:0001583|missense_variant | null | null | null | null | null | null | null | null | null | 1 | 2100306794 | null | null | null | null | null | null | null | null |
1 | 865,642 | 1534041 | G | A | null | null | null | null | null | 1647609 | not_provided | null | MedGen:C3661900 | null | NC_000001.10:g.865642G>A | criteria_provided,_single_submitter | Likely_benign | null | null | SCV002321706 | single_nucleotide_variant | SO:0001483 | ClinGen:CA415379612 | null | SAMD11:148398 | SO:0001819|synonymous_variant | null | null | null | null | null | null | null | null | null | 1 | 2100306801 | null | null | null | null | null | null | null | null |
1 | 865,645 | 1919925 | T | C | null | null | null | null | null | 1978838 | not_provided | null | MedGen:C3661900 | null | NC_000001.10:g.865645T>C | criteria_provided,_single_submitter | Likely_benign | null | null | SCV002958239 | single_nucleotide_variant | SO:0001483 | ClinGen:CA415379617 | null | SAMD11:148398 | SO:0001819|synonymous_variant | null | null | null | null | null | null | null | null | null | 1 | 774782309 | null | null | null | null | null | null | null | null |
1 | 865,645 | 1368373 | T | G | null | null | null | 0.00002 | null | 1339966 | not_specified|not_provided | null | MedGen:CN169374|MedGen:C3661900 | null | NC_000001.10:g.865645T>G | criteria_provided,_multiple_submitters,_no_conflicts | Uncertain_significance | null | null | SCV002135283|SCV006420755 | single_nucleotide_variant | SO:0001483 | ClinGen:CA502444 | null | SAMD11:148398 | SO:0001583|missense_variant | null | null | null | null | null | null | null | null | null | 1 | 774782309 | null | null | null | null | null | null | null | null |
1 | 865,654 | 1672121 | C | T | null | null | 0.00008 | null | null | 1647430 | not_provided | null | MedGen:C3661900 | null | NC_000001.10:g.865654C>T | criteria_provided,_single_submitter | Likely_benign | null | null | SCV002491542 | single_nucleotide_variant | SO:0001483 | ClinGen:CA16707057 | null | SAMD11:148398 | SO:0001819|synonymous_variant | null | null | null | null | null | null | null | null | null | 1 | 147544000 | null | null | null | null | null | null | null | null |
1 | 865,655 | 969662 | T | G | null | null | null | 0.00004 | null | 959432 | not_provided | null | MedGen:C3661900 | null | NC_000001.10:g.865655T>G | criteria_provided,_single_submitter | Uncertain_significance | null | null | SCV001418319 | single_nucleotide_variant | SO:0001483 | ClinGen:CA502446 | null | SAMD11:148398 | SO:0001583|missense_variant | null | null | null | null | null | null | null | null | null | 1 | 772007449 | null | null | null | null | null | null | null | null |
1 | 865,659 | 1993184 | G | A | null | null | null | null | null | 2052837 | not_provided | null | MedGen:C3661900 | null | NC_000001.10:g.865659G>A | criteria_provided,_single_submitter | Uncertain_significance | null | null | SCV003197267 | single_nucleotide_variant | SO:0001483 | ClinGen:CA337792128 | null | SAMD11:148398 | SO:0001583|missense_variant | null | null | null | null | null | null | null | null | null | 1 | 2522624244 | null | null | null | null | null | null | null | null |
1 | 865,661 | 1476127 | C | T | null | null | null | null | null | 1423846 | not_provided | null | MedGen:C3661900 | null | NC_000001.10:g.865661C>T | criteria_provided,_single_submitter | Uncertain_significance | null | null | SCV002262314 | single_nucleotide_variant | SO:0001483 | ClinGen:CA337792132 | null | SAMD11:148398 | SO:0001583|missense_variant | null | null | null | null | null | null | null | null | null | 1 | 1641108930 | null | null | null | null | null | null | null | null |
1 | 865,662 | 1140293 | G | A | null | null | 0.00146 | 0.00064 | 0.00080 | 1110867 | not_provided|SAMD11-related_disorder|not_specified | null | MedGen:C3661900|.|MedGen:CN169374 | null | NC_000001.10:g.865662G>A | criteria_provided,_multiple_submitters,_no_conflicts | Likely_benign | null | null | SCV001681544|SCV007174326 | single_nucleotide_variant | SO:0001483 | ClinGen:CA502447 | null | SAMD11:148398 | SO:0001583|missense_variant | null | null | null | null | null | null | null | null | null | 1 | 140751899 | null | null | null | null | null | null | null | null |
1 | 865,663 | 3648675 | G | A | null | null | null | null | null | 3784532 | not_provided | null | MedGen:C3661900 | null | NC_000001.10:g.865663G>A | criteria_provided,_single_submitter | Likely_benign | null | null | SCV005751338 | single_nucleotide_variant | SO:0001483 | null | null | SAMD11:148398 | SO:0001819|synonymous_variant | null | null | null | null | null | null | null | null | null | 1 | null | null | null | null | null | null | null | null | null |
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