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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr15 | 48,744,915 | G | C | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | CEP152 | 1,648,370 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr15 | 48,741,617 | G | C | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | CEP152 | 1,600,307 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr15 | 48,756,075 | TG | T | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | CEP152 | 2,636,246 | Far from Splice site (> 5bp) | CDS | frameshift_variant | deletion |
chr1 | 243,344,276 | AG | A | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 6 | SDCCAG8 | 57 | Far from Splice site (> 5bp) | CDS | frameshift_variant | deletion |
chr1 | 243,344,297 | CA | C | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 3 | SDCCAG8 | 156,529 | Far from Splice site (> 5bp) | CDS | frameshift_variant | deletion |
chr1 | 243,270,976 | A | G | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | SDCCAG8 | 212,139 | Near Splice site (<= 5bp) | splice_site | splice_acceptor_variant | SNV |
chr1 | 243,286,332 | C | T | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 3 | SDCCAG8 | 212,140 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr1 | 243,256,127 | T | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 5 | SDCCAG8 | 260,005 | Far from Splice site (> 5bp) | 5UTR | 5_prime_UTR_variant | SNV |
chr1 | 243,271,036 | G | A | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 9 | SDCCAG8 | 260,011 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr1 | 243,308,160 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 6 | SDCCAG8 | 260,013 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr1 | 243,330,605 | A | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 9 | SDCCAG8 | 260,006 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr1 | 243,344,378 | C | CA | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | SDCCAG8 | 260,008 | Far from Splice site (> 5bp) | intron | intron_variant | insertion |
chr1 | 243,415,810 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 8 | SDCCAG8 | 260,009 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr1 | 243,330,627 | AG | A | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | SDCCAG8 | 287,667 | Far from Splice site (> 5bp) | CDS | frameshift_variant | deletion |
chr1 | 243,316,811 | C | T | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 5 | SDCCAG8 | 296,911 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr1 | 243,308,046 | T | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | SDCCAG8 | 296,910 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr1 | 243,415,802 | C | T | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | SDCCAG8 | 489,261 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr1 | 243,378,821 | CA | C | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | SDCCAG8 | 623,227 | Far from Splice site (> 5bp) | CDS | frameshift_variant | deletion |
chr1 | 243,330,591 | C | T | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | SDCCAG8 | 635,017 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr1 | 243,417,984 | G | A | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 4 | SDCCAG8 | 703,352 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr1 | 243,304,733 | T | G | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 4 | SDCCAG8 | 846,611 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr1 | 243,274,633 | G | T | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | SDCCAG8 | 2,048,826 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr1 | 243,308,032 | G | T | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | SDCCAG8 | 1,070,303 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr1 | 243,308,195 | C | T | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | SDCCAG8 | 1,167,182 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr1 | 243,286,579 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | SDCCAG8 | 1,177,722 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr1 | 243,415,510 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | SDCCAG8 | 1,224,102 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr1 | 243,270,352 | A | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | SDCCAG8 | 1,228,529 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr1 | 243,304,870 | A | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | SDCCAG8 | 1,264,286 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr1 | 243,307,890 | A | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | SDCCAG8 | 1,281,076 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr1 | 243,330,360 | T | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | SDCCAG8 | 1,289,088 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr1 | 243,304,620 | A | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | SDCCAG8 | 1,289,836 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr1 | 243,341,174 | G | C | 1 | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | SDCCAG8 | 1,321,378 | Near Splice site (<= 5bp) | splice_site | splice_donor_variant | SNV |
chr1 | 45,014,012 | G | C | 1 | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | UROD | 254,172 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr1 | 45,014,037 | A | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 6 | UROD | 255,961 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr1 | 45,013,767 | G | A | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | UROD | 297,459 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr1 | 45,013,201 | G | T | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | UROD | 1,070,401 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr1 | 45,014,202 | G | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | UROD | 1,222,058 | Far from Splice site (> 5bp) | intergenic | upstream_gene_variant | SNV |
chr1 | 45,015,061 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | UROD | 1,247,764 | Far from Splice site (> 5bp) | intergenic | upstream_gene_variant | SNV |
chr1 | 45,013,741 | C | T | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | UROD | 1,436,524 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr1 | 45,014,050 | C | T | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 6 | UROD | 1,457,336 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr1 | 45,013,716 | TGT | CCA | 1 | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | UROD | 1,465,976 | Far from Splice site (> 5bp) | CDS | missense_variant | MNV |
chr1 | 45,013,747 | C | T | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | UROD | 1,695,444 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr10 | 89,225,168 | A | G | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 5 | LIPA | 77 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr10 | 89,223,710 | C | A | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 6 | LIPA | 78 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr10 | 89,225,172 | C | CA | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 7 | LIPA | 80 | Far from Splice site (> 5bp) | CDS | frameshift_variant | insertion |
chr10 | 89,228,368 | C | A | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 10 | LIPA | 88,770 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr10 | 89,247,603 | T | G | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 14 | LIPA | 195,049 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr10 | 89,245,799 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 4 | LIPA | 196,238 | Far from Splice site (> 5bp) | splice_site | splice_region_variant | SNV |
chr10 | 89,223,750 | T | G | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 5 | LIPA | 198,408 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr10 | 89,215,892 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 4 | LIPA | 255,613 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr10 | 89,223,872 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 4 | LIPA | 255,611 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr10 | 89,225,233 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 10 | LIPA | 255,610 | Near Splice site (<= 5bp) | splice_site | splice_region_variant | SNV |
chr10 | 89,247,582 | C | T | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 11 | LIPA | 255,612 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr10 | 89,228,229 | TG | T | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 8 | LIPA | 289,986 | Far from Splice site (> 5bp) | CDS | frameshift_variant | deletion |
chr10 | 89,213,919 | A | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | LIPA | 301,555 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr10 | 89,213,735 | G | A | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | LIPA | 301,549 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr10 | 89,228,209 | C | T | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 3 | LIPA | 554,864 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr10 | 89,228,277 | C | CGG | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 4 | LIPA | 556,450 | Far from Splice site (> 5bp) | CDS | frameshift_variant | insertion |
chr10 | 89,228,345 | A | T | 1 | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | LIPA | 553,714 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr10 | 89,215,004 | C | T | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | LIPA | 555,337 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr10 | 89,226,950 | AT | A | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 5 | LIPA | 552,285 | Far from Splice site (> 5bp) | CDS | frameshift_variant | deletion |
chr10 | 89,245,712 | G | A | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 5 | LIPA | 558,291 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr10 | 89,214,958 | A | G | 1 | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 4 | LIPA | 552,474 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr10 | 89,223,821 | CA | C | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 3 | LIPA | 553,192 | Far from Splice site (> 5bp) | CDS | frameshift_variant | deletion |
chr10 | 89,247,537 | C | T | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | LIPA | 648,013 | Near Splice site (<= 5bp) | splice_site | splice_donor_variant | SNV |
chr10 | 89,228,493 | C | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | LIPA | 684,271 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr10 | 89,225,030 | T | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | LIPA | 672,051 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr10 | 89,246,097 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | LIPA | 684,269 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr10 | 89,222,324 | A | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | LIPA | 672,000 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr10 | 89,247,713 | C | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | LIPA | 684,268 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr10 | 89,214,995 | C | T | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | LIPA | 695,039 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr10 | 89,228,242 | T | C | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | LIPA | 695,055 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr10 | 89,228,374 | T | C | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | LIPA | 695,062 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr10 | 89,225,233 | GA | AG | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | LIPA | 728,423 | Near Splice site (<= 5bp) | splice_site | splice_region_variant | MNV |
chr10 | 89,222,504 | T | C | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | LIPA | 791,673 | Far from Splice site (> 5bp) | splice_site | splice_region_variant | SNV |
chr10 | 89,223,832 | T | A | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | LIPA | 939,160 | Near Splice site (<= 5bp) | splice_site | splice_acceptor_variant | SNV |
chr10 | 89,225,230 | T | C | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | LIPA | 955,545 | Near Splice site (<= 5bp) | splice_site | splice_acceptor_variant | SNV |
chr10 | 89,225,245 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | LIPA | 1,165,333 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr10 | 89,245,956 | G | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | LIPA | 1,285,843 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr10 | 89,251,701 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | LIPA | 1,301,704 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr10 | 89,214,843 | CATTAG | C | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | LIPA | 1,323,236 | Far from Splice site (> 5bp) | CDS | frameshift_variant | deletion |
chr10 | 89,215,975 | C | T | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | LIPA | 1,455,198 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr10 | 89,225,147 | G | GCGA | 1 | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | LIPA | 1,511,921 | Far from Splice site (> 5bp) | intergenic | conservative_inframe_insertion | insertion |
chr10 | 89,225,115 | G | A | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | LIPA | 1,459,866 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr10 | 89,245,774 | C | T | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | LIPA | 1,724,570 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr10 | 89,223,812 | C | A | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | LIPA | 2,192,799 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr10 | 98,482,733 | G | A | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 4 | HPSE2 | 83 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr10 | 98,490,050 | CTT | C | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 8 | HPSE2 | 84 | Near Splice site (<= 5bp) | CDS | frameshift_variant | deletion |
chr10 | 99,235,745 | C | CG | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 3 | HPSE2 | 90 | Far from Splice site (> 5bp) | CDS | frameshift_variant | insertion |
chr10 | 98,721,670 | C | T | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | HPSE2 | 445,627 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr10 | 98,459,735 | C | G | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | HPSE2 | 715,582 | Near Splice site (<= 5bp) | CDS | missense_variant | SNV |
chr10 | 99,144,275 | C | T | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | HPSE2 | 716,933 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr10 | 98,482,773 | G | A | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | HPSE2 | 729,497 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr10 | 98,620,613 | A | G | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | HPSE2 | 728,157 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr10 | 99,235,530 | G | T | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | HPSE2 | 730,903 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr10 | 99,235,506 | G | A | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 4 | HPSE2 | 784,210 | Far from Splice site (> 5bp) | splice_site | splice_region_variant | SNV |
chr10 | 98,721,548 | T | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | HPSE2 | 1,220,832 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr10 | 98,459,762 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | HPSE2 | 1,227,966 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr10 | 98,490,295 | G | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | HPSE2 | 1,225,744 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr10 | 98,482,588 | C | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | HPSE2 | 1,226,492 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
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