chrom string | pos int64 | ref string | alt string | ClinSigSimple int64 | ClinicalSignificance string | ReviewStatus string | NumberSubmitters int64 | GeneSymbol string | VariationID int64 | feature_lvl2 string | genomic_element string | consequence string | variant_type string |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr21 | 43,053,497 | G | A | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | CBS | 340,075 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr21 | 43,053,314 | C | T | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | CBS | 340,071 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr21 | 43,053,581 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | CBS | 340,076 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr21 | 43,053,799 | C | T | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | CBS | 340,078 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr21 | 43,056,888 | C | T | 1 | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | CBS | 370,957 | Near Splice site (<= 5bp) | splice_site | splice_acceptor_variant | SNV |
chr21 | 43,058,871 | T | A | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | CBS | 370,634 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr21 | 43,062,952 | C | T | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 5 | CBS | 371,568 | Near Splice site (<= 5bp) | splice_site | splice_donor_variant | SNV |
chr21 | 43,063,989 | TC | T | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 4 | CBS | 370,105 | Near Splice site (<= 5bp) | CDS | frameshift_variant | deletion |
chr21 | 43,066,291 | TC | T | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | CBS | 371,200 | Far from Splice site (> 5bp) | CDS | frameshift_variant | deletion |
chr21 | 43,068,508 | C | T | 1 | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | CBS | 370,129 | Near Splice site (<= 5bp) | splice_site | splice_donor_variant | SNV |
chr21 | 43,071,984 | C | G | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | CBS | 370,403 | Near Splice site (<= 5bp) | splice_site | splice_donor_variant | SNV |
chr21 | 43,072,174 | T | TG | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 9 | CBS | 371,345 | Far from Splice site (> 5bp) | CDS | frameshift_variant | insertion |
chr21 | 43,053,846 | C | T | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | CBS | 377,631 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr21 | 43,062,933 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 5 | CBS | 377,629 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr21 | 43,060,498 | TC | T | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | CBS | 420,532 | Far from Splice site (> 5bp) | CDS | frameshift_variant | deletion |
chr21 | 43,063,138 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | CBS | 439,458 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr21 | 43,063,912 | A | T | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 6 | CBS | 439,461 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr21 | 43,063,992 | C | G | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 5 | CBS | 471,366 | Near Splice site (<= 5bp) | splice_site | splice_acceptor_variant | SNV |
chr21 | 43,059,227 | AG | A | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | CBS | 495,530 | Near Splice site (<= 5bp) | CDS | frameshift_variant | deletion |
chr21 | 43,063,877 | T | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | CBS | 496,790 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr21 | 43,066,423 | C | G | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | CBS | 496,824 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr21 | 43,065,582 | C | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | CBS | 496,832 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr21 | 43,072,161 | C | T | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 4 | CBS | 513,125 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr21 | 43,053,985 | T | G | 1 | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | CBS | 556,031 | Near Splice site (<= 5bp) | splice_site | splice_acceptor_variant | SNV |
chr21 | 43,063,079 | C | G | 1 | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | CBS | 557,534 | Near Splice site (<= 5bp) | splice_site | splice_acceptor_variant | SNV |
chr21 | 43,066,290 | GT | C | 1 | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | CBS | 558,326 | Far from Splice site (> 5bp) | CDS | frameshift_variant | deletion |
chr21 | 43,066,319 | C | CCGCA | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | CBS | 554,230 | Far from Splice site (> 5bp) | CDS | frameshift_variant | insertion |
chr21 | 43,072,028 | GCTGCCAGGTGCAC | G | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | CBS | 558,538 | Far from Splice site (> 5bp) | CDS | frameshift_variant | deletion |
chr21 | 43,053,960 | G | A | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | CBS | 556,910 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr21 | 43,053,984 | C | G | 1 | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | CBS | 554,133 | Near Splice site (<= 5bp) | splice_site | splice_acceptor_variant | SNV |
chr21 | 43,062,951 | A | C | 1 | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | CBS | 556,761 | Near Splice site (<= 5bp) | splice_site | splice_donor_variant | SNV |
chr21 | 43,063,899 | C | T | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 9 | CBS | 556,952 | Near Splice site (<= 5bp) | splice_site | splice_donor_variant | SNV |
chr21 | 43,066,242 | C | A | 1 | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | CBS | 552,801 | Near Splice site (<= 5bp) | splice_site | splice_donor_variant | SNV |
chr21 | 43,058,254 | C | G | 1 | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | CBS | 554,614 | Near Splice site (<= 5bp) | splice_site | splice_acceptor_variant | SNV |
chr21 | 43,059,225 | C | A | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | CBS | 650,962 | Near Splice site (<= 5bp) | splice_site | splice_donor_variant | SNV |
chr21 | 43,056,649 | A | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | CBS | 672,235 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr21 | 43,059,591 | A | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | CBS | 670,959 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr21 | 43,063,169 | C | T | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | CBS | 673,096 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr21 | 43,066,168 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | CBS | 675,395 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr21 | 43,063,343 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | CBS | 668,709 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr21 | 43,068,379 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | CBS | 675,794 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr21 | 43,058,245 | A | G | 1 | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | CBS | 858,640 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr21 | 43,072,174 | TG | T | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 3 | CBS | 859,549 | Far from Splice site (> 5bp) | CDS | frameshift_variant | deletion |
chr21 | 43,053,199 | T | C | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | CBS | 895,620 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr21 | 43,065,255 | G | T | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 4 | CBS | 917,816 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr21 | 43,062,343 | C | G | 1 | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | CBS | 1,052,953 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr21 | 43,063,038 | G | A | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | CBS | 1,066,972 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr21 | 43,058,215 | G | T | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 3 | CBS | 1,073,191 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr21 | 43,068,563 | G | A | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | CBS | 1,070,052 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr21 | 43,072,095 | TG | T | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | CBS | 1,075,453 | Far from Splice site (> 5bp) | CDS | frameshift_variant | deletion |
chr21 | 43,073,121 | T | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | CBS | 1,222,024 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr21 | 43,068,285 | G | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | CBS | 1,235,393 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr21 | 43,056,985 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | CBS | 1,235,563 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr21 | 43,066,161 | G | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | CBS | 1,236,926 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr21 | 43,062,920 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | CBS | 1,250,292 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr21 | 43,056,923 | T | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | CBS | 1,266,028 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr21 | 43,065,665 | CT | C | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | CBS | 1,452,450 | Far from Splice site (> 5bp) | CDS | frameshift_variant | deletion |
chr21 | 43,068,616 | C | G | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | CBS | 1,501,269 | Near Splice site (<= 5bp) | splice_site | splice_acceptor_variant | SNV |
chr21 | 43,058,886 | C | A | 1 | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | CBS | 2,630,919 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr21 | 43,065,453 | CGGGGAGTCGAACCTGGCATT | C | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | CBS | 2,680,412 | Far from Splice site (> 5bp) | CDS | frameshift_variant | deletion |
chr20 | 761,109 | CGA | C | 1 | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 4 | SLC52A3 | 139 | Far from Splice site (> 5bp) | CDS | frameshift_variant | deletion |
chr20 | 763,523 | A | T | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 8 | SLC52A3 | 210,024 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr20 | 763,932 | G | C | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 7 | SLC52A3 | 210,018 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr20 | 761,009 | CG | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 4 | SLC52A3 | 262,227 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | deletion |
chr20 | 761,203 | A | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 8 | SLC52A3 | 262,230 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr20 | 763,477 | T | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | SLC52A3 | 262,229 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr20 | 763,664 | T | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 6 | SLC52A3 | 262,241 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr20 | 763,738 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 6 | SLC52A3 | 262,240 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr20 | 763,806 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 9 | SLC52A3 | 262,238 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr20 | 763,926 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 5 | SLC52A3 | 262,237 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr20 | 763,971 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 6 | SLC52A3 | 262,236 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr20 | 765,319 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 5 | SLC52A3 | 262,234 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr20 | 765,454 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 8 | SLC52A3 | 262,233 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr20 | 765,535 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 7 | SLC52A3 | 262,232 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr20 | 765,553 | G | C | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 5 | SLC52A3 | 262,231 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr20 | 765,766 | G | A | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 9 | SLC52A3 | 262,242 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr20 | 765,779 | GTATCTGCCC | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 4 | SLC52A3 | 262,228 | Near Splice site (<= 5bp) | 5UTR | 5_prime_UTR_variant | deletion |
chr20 | 765,254 | T | C | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 5 | SLC52A3 | 476,611 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr20 | 763,524 | C | T | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 9 | SLC52A3 | 476,598 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr20 | 763,590 | C | G | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 5 | SLC52A3 | 476,620 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr20 | 763,635 | C | T | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 4 | SLC52A3 | 476,618 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr20 | 763,866 | G | A | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 5 | SLC52A3 | 476,614 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr20 | 765,412 | G | C | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | SLC52A3 | 543,059 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr20 | 765,436 | G | A | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 6 | SLC52A3 | 543,063 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr20 | 763,817 | CG | C | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | SLC52A3 | 623,230 | Far from Splice site (> 5bp) | CDS | frameshift_variant | deletion |
chr20 | 765,712 | A | G | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | SLC52A3 | 666,754 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr20 | 765,225 | C | A | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | SLC52A3 | 1,070,902 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr20 | 761,593 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | SLC52A3 | 1,185,470 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr20 | 761,595 | T | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | SLC52A3 | 1,185,471 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr20 | 763,406 | A | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | SLC52A3 | 1,185,472 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr20 | 764,203 | A | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | SLC52A3 | 1,185,522 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr20 | 764,185 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | SLC52A3 | 1,241,128 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr20 | 763,388 | A | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | SLC52A3 | 1,269,072 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr20 | 761,573 | C | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | SLC52A3 | 1,295,534 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr20 | 765,039 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | SLC52A3 | 1,295,535 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr20 | 768,330 | T | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | SLC52A3 | 1,302,730 | Far from Splice site (> 5bp) | 5UTR | 5_prime_UTR_premature_start_codon_gain_variant | SNV |
chr20 | 763,796 | G | A | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | SLC52A3 | 1,760,485 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr10 | 124,412,012 | TG | T | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 8 | OAT | 147 | Far from Splice site (> 5bp) | CDS | frameshift_variant | deletion |
chr10 | 124,398,076 | G | A | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 4 | OAT | 149 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr10 | 124,398,057 | A | G | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 4 | OAT | 156 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
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