chrom large_string | start uint32 | end uint32 | id large_string | ref large_string | alt large_string | qual float64 | filter large_string | af_esp float32 | af_exac float32 | af_tgp float32 | alleleid int32 | clndn large list | clndnincl large list | clndisdb large list | clndisdbincl large list | clnhgvs large list | clnrevstat large list | clnsig large list | clnsigconf large list | clnsigincl large list | clnsigscv large list | clnvc large_string | clnvcso large_string | clnvi large list | dbvarid large list | geneinfo large_string | mc large list | oncdn large list | oncdnincl large list | oncdisdb large list | oncdisdbincl large list | onc large list | oncincl large list | oncrevstat large list | oncscv large list | oncconf large list | origin large list | rs large list | scidn large list | scidnincl large list | scidisdb large list | scidisdbincl large list | scirevstat large list | sci large list | sciincl large list | sciscv large list |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | 66,926 | 66,927 | 3385321 | AG | A | null | null | null | null | 3,544,463 | [
"Retinitis_pigmentosa"
] | null | [
"Human_Phenotype_Ontology:HP:0000547",
"MONDO:MONDO:0019200",
"MeSH:D012174",
"MedGen:C0035334",
"OMIM:268000",
"OMIM:PS268000",
"Orphanet:791"
] | null | [
"NC_000001.11: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 | 69,134 | 2205837 | A | G | null | null | null | null | 2,193,183 | [
"not_specified"
] | null | [
"MedGen:CN169374"
] | null | [
"NC_000001.11: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 | 69,308 | 69,308 | 3925305 | A | G | null | null | null | null | 4,039,319 | [
"not_specified"
] | null | [
"MedGen:CN169374"
] | null | [
"NC_000001.11: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 | 69,314 | 3205580 | T | G | null | null | null | null | 3,374,047 | [
"not_specified"
] | null | [
"MedGen:CN169374"
] | null | [
"NC_000001.11: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 | 69,404 | 3925306 | T | C | null | null | null | null | 4,039,320 | [
"not_specified"
] | null | [
"MedGen:CN169374"
] | null | [
"NC_000001.11: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 | 69,423 | 69,423 | 3205581 | G | A | null | null | null | null | 3,374,048 | [
"not_specified"
] | null | [
"MedGen:CN169374"
] | null | [
"NC_000001.11: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 | 69,581 | 69,581 | 2252161 | C | G | null | null | null | null | 2,238,986 | [
"not_specified"
] | null | [
"MedGen:CN169374"
] | null | [
"NC_000001.11: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 | 69,682 | 69,682 | 2396347 | G | A | null | null | 0.00007 | null | 2,386,655 | [
"not_specified"
] | null | [
"MedGen:CN169374"
] | null | [
"NC_000001.11: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 | 69,731 | 3205582 | T | C | null | null | null | null | 3,374,049 | [
"not_specified"
] | null | [
"MedGen:CN169374"
] | null | [
"NC_000001.11: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 | 69,769 | 2288999 | T | C | null | null | null | null | 2,278,803 | [
"not_specified"
] | null | [
"MedGen:CN169374"
] | null | [
"NC_000001.11: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 | 69,989 | 69,989 | 3925307 | A | C | null | null | null | null | 4,039,321 | [
"not_specified"
] | null | [
"MedGen:CN169374"
] | null | [
"NC_000001.11: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 | 69,995 | 2351346 | G | C | null | null | null | null | 2,333,177 | [
"not_specified"
] | null | [
"MedGen:CN169374"
] | null | [
"NC_000001.11: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 | 809,284 | 809,284 | 3892489 | T | TGGTCAATCA | null | null | null | null | 4,008,375 | [
"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:C0015708",
"OMIM:211500"
] | null | [
"NC_000001.11:g.809289_809290insATCAGGTCA"
] | [
"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 | 924,518 | 924,518 | 3388928 | G | C | null | null | null | null | 3,548,054 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.924518G>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 | 925,946 | 925,946 | 1924157 | C | G | null | null | 0.00001 | null | 1,983,057 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.925946C>G"
] | [
"criteria_provided",
"_single_submitter"
] | [
"Uncertain_significance"
] | null | null | [
"SCV002959971"
] | 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 | 925,952 | 925,952 | 1019397 | G | A | null | null | null | null | 1,003,021 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.925952G>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 | 925,956 | 925,956 | 1543320 | C | T | null | null | null | null | 1,632,777 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.925956C>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 | 925,961 | 925,961 | 2069387 | A | T | null | null | 0.00001 | null | 2,129,477 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.925961A>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 | 925,969 | 925,969 | 1648427 | C | T | null | null | 0.00033 | null | 1,600,580 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.925969C>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 | 925,976 | 925,976 | 1362713 | T | C | null | null | null | null | 1,396,033 | [
"not_specified|not_provided"
] | null | [
"MedGen:CN169374|MedGen:C3661900"
] | null | [
"NC_000001.11:g.925976T>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 | 925,980 | 925,980 | 1936488 | C | T | null | null | null | null | 1,986,319 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.925980C>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 | 925,986 | 925,986 | 1568423 | C | T | null | null | null | null | 1,570,515 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.925986C>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 | 926,003 | 926,003 | 1365270 | C | T | null | null | null | null | 1,502,313 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.926003C>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 | 926,010 | 926,010 | 1632958 | G | T | null | null | null | null | 1,545,352 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.926010G>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 | 926,014 | 926,014 | 1377425 | G | A | null | null | null | null | 1,473,095 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.926014G>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 | 926,018 | 926,018 | 1979359 | G | A | null | null | null | null | 2,034,738 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.926018G>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 | 926,025 | 926,025 | 1555362 | G | A | null | null | null | null | 1,550,067 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.926025G>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 | 926,026 | 926,026 | 2089674 | G | A | null | null | null | null | 2,155,344 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.926026G>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 | 926,026 | 926,026 | 2957935 | G | T | null | null | null | null | 3,119,147 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.926026G>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 | 926,027 | 926,027 | 1561208 | C | T | null | null | null | null | 1,641,615 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.926027C>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 | 926,029 | 926,029 | 1624593 | C | T | null | null | 0.00001 | null | 1,629,212 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.926029C>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 | 930,081 | 930,102 | 3038970 | AGCCCCACCTTCCTCTCCTCCT | A | null | null | null | null | 3,210,071 | [
"SAMD11-related_disorder"
] | null | null | null | [
"NC_000001.11:g.930090TTCCTCTCCTCCTGCCCCACC[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 | 930,136 | 930,136 | 1541757 | T | C | null | null | null | null | 1,631,640 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.930136T>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 | 930,136 | 930,139 | 1658573 | TCTC | T | null | null | null | null | 1,563,949 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.930139CCT[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 | 930,139 | 930,139 | 1125147 | C | T | null | null | null | null | 1,110,865 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.930139C>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 | 930,158 | 930,158 | 1502618 | C | T | null | null | null | null | 1,514,722 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.930158C>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 | 930,163 | 930,163 | 1547384 | G | A | null | null | 0.00029 | null | 1,571,927 | [
"SAMD11-related_disorder|not_provided"
] | null | [
".|MedGen:C3661900"
] | null | [
"NC_000001.11:g.930163G>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 | 930,164 | 930,164 | 1923853 | C | T | null | null | null | 0.0002 | 1,986,633 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.930164C>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 | 930,165 | 930,165 | 1164676 | G | A | null | null | 0.00102 | 0.0028 | 1,153,701 | [
"SAMD11-related_disorder|not_provided"
] | null | [
".|MedGen:C3661900"
] | null | [
"NC_000001.11:g.930165G>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 | 930,183 | 930,183 | 3436941 | C | T | null | null | null | null | 3,594,678 | [
"not_specified"
] | null | [
"MedGen:CN169374"
] | null | [
"NC_000001.11:g.930183C>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 | 930,186 | 930,186 | 1365924 | T | C | null | null | null | null | 1,398,914 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.930186T>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 | 930,187 | 930,187 | 1144630 | C | T | null | 0.00016 | 0.00005 | null | 1,131,738 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.930187C>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 | 930,188 | 930,188 | 846933 | G | A | null | null | 0 | null | 824,438 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.930188G>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 | 930,189 | 930,189 | 1478180 | C | T | null | null | 0.00014 | null | 1,351,687 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.930189C>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 | 930,195 | 930,195 | 1380424 | C | G | null | null | null | null | 1,421,246 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.930195C>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 | 930,195 | 930,195 | 1354167 | C | T | null | 0.00008 | 0.00004 | null | 1,341,285 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.930195C>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 | 930,199 | 930,199 | 1095790 | C | T | null | null | 0.00004 | null | 1,067,609 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.930199C>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 | 930,200 | 930,200 | 1043045 | G | A | null | 0.00039 | 0.00038 | null | 1,023,510 | [
"not_provided|not_specified"
] | null | [
"MedGen:C3661900|MedGen:CN169374"
] | null | [
"NC_000001.11:g.930200G>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 | 930,201 | 930,201 | 2012623 | C | T | null | null | null | null | 2,074,412 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.930201C>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 | 930,203 | 930,203 | 972363 | C | T | null | null | 0.00008 | null | 959,431 | [
"not_specified|not_provided"
] | null | [
"MedGen:CN169374|MedGen:C3661900"
] | null | [
"NC_000001.11:g.930203C>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 | 930,204 | 930,204 | 1170208 | G | A | null | 0.01083 | 0.00595 | 0.01098 | 1,153,702 | [
"not_provided|SAMD11-related_disorder"
] | null | [
"MedGen:C3661900|."
] | null | [
"NC_000001.11:g.930204G>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 | 930,209 | 930,209 | 1653547 | C | T | null | null | null | null | 1,548,120 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.930209C>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 | 930,210 | 930,213 | 2059344 | TGAA | T | null | null | null | null | 2,117,203 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.930212AAG[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 | 930,212 | 930,212 | 3949370 | A | C | null | null | null | null | 4,065,956 | [
"not_specified"
] | null | [
"MedGen:CN169374"
] | null | [
"NC_000001.11:g.930212A>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 | 930,215 | 930,215 | 1409578 | A | G | null | null | null | null | 1,340,647 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.930215A>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 | 930,218 | 930,218 | 1523336 | G | A | null | null | null | null | 1,350,505 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.930218G>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 | 930,220 | 930,220 | 1667751 | G | A | null | null | null | null | 1,657,034 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.930220G>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 | 930,221 | 930,221 | 2133131 | C | T | null | null | null | null | 2,191,970 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.930221C>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 | 930,222 | 930,227 | 998906 | GAACTC | TTCTTCTG | null | null | null | null | 987,768 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.930222_930227delinsTTCTTCTG"
] | [
"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 | 930,226 | 930,226 | 2081213 | T | G | null | null | 0.00003 | null | 2,143,012 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.930226T>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 | 930,228 | 930,228 | 1715702 | C | G | null | null | null | null | 1,773,647 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.930228C>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 | 930,230 | 930,230 | 2122561 | A | G | null | null | null | null | 2,184,321 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.930230A>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 | 930,235 | 930,235 | 2876353 | C | T | null | null | null | null | 3,035,623 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.930235C>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 | 930,243 | 930,243 | 1497763 | G | A | null | null | null | null | 1,376,283 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.930243G>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 | 930,245 | 930,245 | 1131472 | G | A | null | 0.00069 | 0.00066 | 0.0014 | 1,110,866 | [
"not_provided|SAMD11-related_disorder"
] | null | [
"MedGen:C3661900|."
] | null | [
"NC_000001.11:g.930245G>A"
] | [
"criteria_provided",
"_single_submitter"
] | [
"Likely_benign"
] | null | null | [
"SCV001669353"
] | 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 | 930,247 | 930,247 | 1145077 | T | C | null | null | 0.00004 | null | 1,131,739 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.930247T>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 | 930,248 | 930,248 | 789256 | G | A | null | 0.00347 | 0.00622 | 0.0028 | 707,587 | [
"not_provided|SAMD11-related_disorder"
] | null | [
"MedGen:C3661900|."
] | null | [
"NC_000001.11:g.930248G>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 | 930,253 | 930,253 | 3791854 | C | A | null | null | null | null | 3,906,510 | [
"not_specified"
] | null | [
"MedGen:CN169374"
] | null | [
"NC_000001.11:g.930253C>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 | 930,256 | 930,256 | 2998369 | C | T | null | null | null | null | 3,159,961 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.930256C>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 | 930,257 | 930,257 | 3949366 | G | A | null | null | null | null | 4,065,952 | [
"not_specified"
] | null | [
"MedGen:CN169374"
] | null | [
"NC_000001.11:g.930257G>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 | 930,259 | 930,259 | 1652015 | C | T | null | null | 0.00003 | null | 1,613,241 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.930259C>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 | 930,260 | 930,260 | 1499045 | G | A | null | null | null | null | 1,488,790 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.930260G>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 | 930,261 | 930,261 | 2631721 | G | A | null | null | null | null | 2,801,254 | [
"SAMD11-related_disorder"
] | null | null | null | [
"NC_000001.11:g.930261G>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 | 930,261 | 930,261 | 1473769 | G | C | null | null | null | null | 1,387,765 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.930261G>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 | 930,262 | 930,262 | 1534041 | G | A | null | null | null | null | 1,647,609 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.930262G>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 | 930,265 | 930,265 | 1919925 | T | C | null | null | null | null | 1,978,838 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.930265T>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 | 930,265 | 930,265 | 1368373 | T | G | null | null | 0.00002 | null | 1,339,966 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.930265T>G"
] | [
"criteria_provided",
"_single_submitter"
] | [
"Uncertain_significance"
] | null | null | [
"SCV002135283"
] | 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 | 930,274 | 930,274 | 1672121 | C | T | null | 0.00008 | null | null | 1,647,430 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.930274C>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 | 930,275 | 930,275 | 969662 | T | G | null | null | 0.00004 | null | 959,432 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.930275T>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 | 930,279 | 930,279 | 1993184 | G | A | null | null | null | null | 2,052,837 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.930279G>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 | 930,281 | 930,281 | 1476127 | C | T | null | null | null | null | 1,423,846 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.930281C>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 | 930,282 | 930,282 | 1140293 | G | A | null | 0.00146 | 0.00064 | 0.0008 | 1,110,867 | [
"SAMD11-related_disorder|not_provided"
] | null | [
".|MedGen:C3661900"
] | null | [
"NC_000001.11:g.930282G>A"
] | [
"criteria_provided",
"_single_submitter"
] | [
"Likely_benign"
] | null | null | [
"SCV001681544"
] | 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 | 930,283 | 930,283 | 3648675 | G | A | null | null | null | null | 3,784,532 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.930283G>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 | |
1 | 930,284 | 930,284 | 1435698 | C | T | null | 0.00008 | 0.00013 | 0.0002 | 1,500,694 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.930284C>T"
] | [
"criteria_provided",
"_single_submitter"
] | [
"Uncertain_significance"
] | null | null | [
"SCV002212924"
] | single_nucleotide_variant | SO:0001483 | [
"ClinGen:CA502448"
] | null | SAMD11:148398 | [
"SO:0001583|missense_variant"
] | null | null | null | null | null | null | null | null | null | [
"1"
] | [
"199655347"
] | null | null | null | null | null | null | null | null | |
1 | 930,285 | 930,285 | 1165489 | G | A | null | 0.00062 | 0.00094 | null | 1,153,703 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.930285G>A"
] | [
"criteria_provided",
"_single_submitter"
] | [
"Benign"
] | null | null | [
"SCV001720098"
] | single_nucleotide_variant | SO:0001483 | [
"ClinGen:CA502449"
] | null | SAMD11:148398 | [
"SO:0001583|missense_variant"
] | null | null | null | null | null | null | null | null | null | [
"1"
] | [
"145442390"
] | null | null | null | null | null | null | null | null | |
1 | 930,292 | 930,292 | 1646781 | C | G | null | null | null | null | 1,599,805 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.930292C>G"
] | [
"criteria_provided",
"_single_submitter"
] | [
"Likely_benign"
] | null | null | [
"SCV002463806"
] | single_nucleotide_variant | SO:0001483 | [
"ClinGen:CA415379670"
] | null | SAMD11:148398 | [
"SO:0001819|synonymous_variant"
] | null | null | null | null | null | null | null | null | null | [
"1"
] | [
"1335979543"
] | null | null | null | null | null | null | null | null | |
1 | 930,312 | 930,312 | 1505398 | C | G | null | null | 0.00037 | 0.0002 | 1,436,965 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.930312C>G"
] | [
"criteria_provided",
"_single_submitter"
] | [
"Uncertain_significance"
] | null | null | [
"SCV002291538"
] | single_nucleotide_variant | SO:0001483 | [
"ClinGen:CA502456"
] | null | SAMD11:148398 | [
"SO:0001583|missense_variant"
] | null | null | null | null | null | null | null | null | null | [
"1"
] | [
"539026517"
] | null | null | null | null | null | null | null | null | |
1 | 930,312 | 930,312 | 1484446 | C | T | null | null | null | null | 1,455,375 | [
"not_provided|not_specified"
] | null | [
"MedGen:C3661900|MedGen:CN169374"
] | null | [
"NC_000001.11:g.930312C>T"
] | [
"criteria_provided",
"_multiple_submitters",
"_no_conflicts"
] | [
"Uncertain_significance"
] | null | null | [
"SCV002275690|SCV003734238"
] | single_nucleotide_variant | SO:0001483 | [
"ClinGen:CA337792630"
] | null | SAMD11:148398 | [
"SO:0001583|missense_variant"
] | null | null | null | null | null | null | null | null | null | [
"1"
] | [
"539026517"
] | null | null | null | null | null | null | null | null | |
1 | 930,313 | 930,313 | 1671776 | G | A | null | null | 0.00003 | 0.0002 | 1,584,013 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.930313G>A"
] | [
"criteria_provided",
"_single_submitter"
] | [
"Likely_benign"
] | null | null | [
"SCV002491462"
] | single_nucleotide_variant | SO:0001483 | [
"ClinGen:CA502457"
] | null | SAMD11:148398 | [
"SO:0001819|synonymous_variant"
] | null | null | null | null | null | null | null | null | null | [
"1"
] | [
"558591746"
] | null | null | null | null | null | null | null | null | |
1 | 930,314 | 930,314 | 1170010 | C | T | null | 0.00732 | 0.0381 | 0.05252 | 1,153,704 | [
"SAMD11-related_disorder|not_provided"
] | null | [
".|MedGen:C3661900"
] | null | [
"NC_000001.11:g.930314C>T"
] | [
"criteria_provided",
"_multiple_submitters",
"_no_conflicts"
] | [
"Benign"
] | null | null | [
"SCV001731373|SCV005282146"
] | single_nucleotide_variant | SO:0001483 | [
"ClinGen:CA502459"
] | null | SAMD11:148398 | [
"SO:0001583|missense_variant"
] | null | null | null | null | null | null | null | null | null | [
"1"
] | [
"9988179"
] | null | null | null | null | null | null | null | null | |
1 | 930,316 | 930,316 | 1547483 | C | T | null | null | 0.00003 | 0.0002 | 1,624,557 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.930316C>T"
] | [
"criteria_provided",
"_single_submitter"
] | [
"Likely_benign"
] | null | null | [
"SCV002342770"
] | single_nucleotide_variant | SO:0001483 | [
"ClinGen:CA502460"
] | null | SAMD11:148398 | [
"SO:0001819|synonymous_variant"
] | null | null | null | null | null | null | null | null | null | [
"1"
] | [
"544377093"
] | null | null | null | null | null | null | null | null | |
1 | 930,317 | 930,317 | 1002057 | A | G | null | null | 0.00003 | null | 987,769 | [
"not_specified|not_provided"
] | null | [
"MedGen:CN169374|MedGen:C3661900"
] | null | [
"NC_000001.11:g.930317A>G"
] | [
"criteria_provided",
"_conflicting_classifications"
] | [
"Conflicting_classifications_of_pathogenicity"
] | [
"Uncertain_significance(1)|Likely_benign(1)"
] | null | [
"SCV001487486|SCV004945557"
] | single_nucleotide_variant | SO:0001483 | [
"ClinGen:CA502461"
] | null | SAMD11:148398 | [
"SO:0001583|missense_variant"
] | null | null | null | null | null | null | null | null | null | [
"1"
] | [
"779619427"
] | null | null | null | null | null | null | null | null | |
1 | 930,320 | 930,320 | 1359546 | C | G | null | null | null | null | 1,370,726 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.930320C>G"
] | [
"criteria_provided",
"_single_submitter"
] | [
"Uncertain_significance"
] | null | null | [
"SCV002121366"
] | single_nucleotide_variant | SO:0001483 | [
"ClinGen:CA337792808"
] | null | SAMD11:148398 | [
"SO:0001583|missense_variant"
] | null | null | null | null | null | null | null | null | null | [
"1"
] | [
"116730894"
] | null | null | null | null | null | null | null | null | |
1 | 930,320 | 930,320 | 1099322 | C | T | null | 0.00108 | 0.00064 | 0.0012 | 1,089,339 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.930320C>T"
] | [
"criteria_provided",
"_single_submitter"
] | [
"Likely_benign"
] | null | null | [
"SCV001624091"
] | single_nucleotide_variant | SO:0001483 | [
"ClinGen:CA502462"
] | null | SAMD11:148398 | [
"SO:0001583|missense_variant"
] | null | null | null | null | null | null | null | null | null | [
"1"
] | [
"116730894"
] | null | null | null | null | null | null | null | null | |
1 | 930,321 | 930,321 | 1002043 | G | A | null | null | 0.00009 | null | 987,770 | [
"not_specified|not_provided"
] | null | [
"MedGen:CN169374|MedGen:C3661900"
] | null | [
"NC_000001.11:g.930321G>A"
] | [
"criteria_provided",
"_multiple_submitters",
"_no_conflicts"
] | [
"Uncertain_significance"
] | null | null | [
"SCV001487471|SCV006159534"
] | single_nucleotide_variant | SO:0001483 | [
"ClinGen:CA502463"
] | null | SAMD11:148398 | [
"SO:0001583|missense_variant"
] | null | null | null | null | null | null | null | null | null | [
"1"
] | [
"768961023"
] | null | null | null | null | null | null | null | null | |
1 | 930,321 | 930,321 | 1478458 | G | T | null | null | null | null | 1,429,695 | [
"not_provided"
] | null | [
"MedGen:C3661900"
] | null | [
"NC_000001.11:g.930321G>T"
] | [
"criteria_provided",
"_single_submitter"
] | [
"Uncertain_significance"
] | null | null | [
"SCV002263602"
] | single_nucleotide_variant | SO:0001483 | [
"ClinGen:CA337792814"
] | null | SAMD11:148398 | [
"SO:0001583|missense_variant"
] | null | null | null | null | null | null | null | null | null | [
"1"
] | [
"768961023"
] | null | null | null | null | null | null | null | null | |
1 | 930,323 | 930,323 | 1367641 | A | G | null | null | 0.00009 | 0.0002 | 1,401,491 | [
"not_provided|not_specified"
] | null | [
"MedGen:C3661900|MedGen:CN169374"
] | null | [
"NC_000001.11:g.930323A>G"
] | [
"criteria_provided",
"_multiple_submitters",
"_no_conflicts"
] | [
"Uncertain_significance"
] | null | null | [
"SCV002133812|SCV005161144"
] | single_nucleotide_variant | SO:0001483 | [
"ClinGen:CA502464"
] | null | SAMD11:148398 | [
"SO:0001583|missense_variant"
] | null | null | null | null | null | null | null | null | null | [
"1"
] | [
"575065934"
] | null | null | null | null | null | null | null | null | |
1 | 930,324 | 930,324 | 3157634 | T | C | null | null | 0.00002 | null | 3,320,394 | [
"not_specified"
] | null | [
"MedGen:CN169374"
] | null | [
"NC_000001.11:g.930324T>C"
] | [
"criteria_provided",
"_single_submitter"
] | [
"Uncertain_significance"
] | null | null | [
"SCV004945558"
] | single_nucleotide_variant | SO:0001483 | [
"ClinGen:CA502465"
] | null | SAMD11:148398 | [
"SO:0001583|missense_variant"
] | null | null | null | null | null | null | null | null | null | [
"1"
] | [
"748645146"
] | null | null | null | null | null | null | null | null | |
1 | 930,325 | 930,325 | 1168187 | C | T | null | 0.00169 | 0.00092 | 0.003 | 1,153,705 | [
"SAMD11-related_disorder|not_provided"
] | null | [
".|MedGen:C3661900"
] | null | [
"NC_000001.11:g.930325C>T"
] | [
"criteria_provided",
"_single_submitter"
] | [
"Benign"
] | null | null | [
"SCV001726882"
] | single_nucleotide_variant | SO:0001483 | [
"ClinGen:CA502466"
] | null | SAMD11:148398 | [
"SO:0001819|synonymous_variant"
] | null | null | null | null | null | null | null | null | null | [
"1"
] | [
"146331776"
] | null | null | null | null | null | null | null | null | |
1 | 930,327 | 930,327 | 3157635 | T | C | null | null | null | null | 3,320,395 | [
"not_specified"
] | null | [
"MedGen:CN169374"
] | null | [
"NC_000001.11:g.930327T>C"
] | [
"criteria_provided",
"_single_submitter"
] | [
"Uncertain_significance"
] | null | null | [
"SCV004945559"
] | single_nucleotide_variant | SO:0001483 | [
"ClinGen:CA337792922"
] | null | SAMD11:148398 | [
"SO:0001583|missense_variant"
] | null | null | null | null | null | null | null | null | null | [
"1"
] | [
"1378184446"
] | null | null | null | null | null | null | null | null |
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