rsid
large_stringlengths
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12
variant_key
large_stringlengths
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111
conclusion
large_stringlengths
10
1.08k
negatives
large_stringclasses
0 values
module
large_stringclasses
10 values
gene
large_stringlengths
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12
phenotype
large_stringlengths
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1.02k
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13 values
null
2:214728743:CA:C
ClinVar: likely_pathogenic (1★) — BARD1-related cancer predisposition | genotype: heterozygous (one copy)
null
cancer
BARD1
BARD1-related cancer predisposition
null
2:214728743:CA:C
ClinVar: likely_pathogenic (1★) — BARD1-related cancer predisposition | genotype: homozygous (two copies)
null
cancer
BARD1
BARD1-related cancer predisposition
rs1574702099
rs1574702099
ClinVar: pathogenic (2★) — Familial cancer of breast | genotype: heterozygous (one copy)
null
cancer
BARD1
Familial cancer of breast
rs1574702099
rs1574702099
ClinVar: pathogenic (2★) — Familial cancer of breast | genotype: homozygous (two copies)
null
cancer
BARD1
Familial cancer of breast
rs879253880
rs879253880
ClinVar: pathogenic (2★) — Familial cancer of breast|Hereditary cancer-predisposing syndrome|Malignant tumor of breast | genotype: heterozygous (one copy)
null
cancer
BARD1
Familial cancer of breast|Hereditary cancer-predisposing syndrome|Malignant tumor of breast
rs879253880
rs879253880
ClinVar: pathogenic (2★) — Familial cancer of breast|Hereditary cancer-predisposing syndrome|Malignant tumor of breast | genotype: homozygous (two copies)
null
cancer
BARD1
Familial cancer of breast|Hereditary cancer-predisposing syndrome|Malignant tumor of breast
rs2105986664
rs2105986664
ClinVar: likely_pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy)
null
cancer
BARD1
Familial cancer of breast
rs2105986664
rs2105986664
ClinVar: likely_pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies)
null
cancer
BARD1
Familial cancer of breast
rs747122703
rs747122703
ClinVar: likely_pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy)
null
cancer
BARD1
Familial cancer of breast
rs747122703
rs747122703
ClinVar: likely_pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies)
null
cancer
BARD1
Familial cancer of breast
rs1259296823
rs1259296823
ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial cancer of breast | genotype: heterozygous (one copy)
null
cancer
BARD1
Hereditary cancer-predisposing syndrome|Familial cancer of breast
rs1259296823
rs1259296823
ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial cancer of breast | genotype: homozygous (two copies)
null
cancer
BARD1
Hereditary cancer-predisposing syndrome|Familial cancer of breast
rs2469268677
rs2469268677
ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy)
null
cancer
BARD1
Familial cancer of breast
rs2469268677
rs2469268677
ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies)
null
cancer
BARD1
Familial cancer of breast
rs1692204026
rs1692204026
ClinVar: likely_pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy)
null
cancer
BARD1
Familial cancer of breast
rs1692204026
rs1692204026
ClinVar: likely_pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies)
null
cancer
BARD1
Familial cancer of breast
null
ga4gh:VA.fO-4QSiW6R_TsnE3Kv3RJbD9fxtbPblL
ClinVar: likely_pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy)
null
cancer
BARD1
Familial cancer of breast
null
ga4gh:VA.fO-4QSiW6R_TsnE3Kv3RJbD9fxtbPblL
ClinVar: likely_pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies)
null
cancer
BARD1
Familial cancer of breast
rs2469268815
rs2469268815
ClinVar: pathogenic (2★) — Familial cancer of breast|Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy)
null
cancer
BARD1
Familial cancer of breast|Hereditary cancer-predisposing syndrome
rs2469268815
rs2469268815
ClinVar: pathogenic (2★) — Familial cancer of breast|Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies)
null
cancer
BARD1
Familial cancer of breast|Hereditary cancer-predisposing syndrome
rs2105986813
rs2105986813
ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial cancer of breast | genotype: heterozygous (one copy)
null
cancer
BARD1
Hereditary cancer-predisposing syndrome|Familial cancer of breast
rs2105986813
rs2105986813
ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial cancer of breast | genotype: homozygous (two copies)
null
cancer
BARD1
Hereditary cancer-predisposing syndrome|Familial cancer of breast
rs2469269005
rs2469269005
ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy)
null
cancer
BARD1
Familial cancer of breast
rs2469269005
rs2469269005
ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies)
null
cancer
BARD1
Familial cancer of breast
rs767395666
rs767395666
ClinVar: likely_pathogenic (2★) — Hereditary breast ovarian cancer syndrome|Familial cancer of breast | genotype: heterozygous (one copy)
null
cancer
BARD1
Hereditary breast ovarian cancer syndrome|Familial cancer of breast
rs767395666
rs767395666
ClinVar: likely_pathogenic (2★) — Hereditary breast ovarian cancer syndrome|Familial cancer of breast | genotype: homozygous (two copies)
null
cancer
BARD1
Hereditary breast ovarian cancer syndrome|Familial cancer of breast
rs2469269067
rs2469269067
ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy)
null
cancer
BARD1
Familial cancer of breast
rs2469269067
rs2469269067
ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies)
null
cancer
BARD1
Familial cancer of breast
rs2469269137
rs2469269137
ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial cancer of breast | genotype: heterozygous (one copy)
null
cancer
BARD1
Hereditary cancer-predisposing syndrome|Familial cancer of breast
rs2469269137
rs2469269137
ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial cancer of breast | genotype: homozygous (two copies)
null
cancer
BARD1
Hereditary cancer-predisposing syndrome|Familial cancer of breast
rs1559372004
rs1559372004
ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial cancer of breast | genotype: heterozygous (one copy)
null
cancer
BARD1
Hereditary cancer-predisposing syndrome|Familial cancer of breast
rs1559372004
rs1559372004
ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial cancer of breast | genotype: homozygous (two copies)
null
cancer
BARD1
Hereditary cancer-predisposing syndrome|Familial cancer of breast
null
2:214728831:CG:C
ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy)
null
cancer
BARD1
Familial cancer of breast
null
2:214728831:CG:C
ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies)
null
cancer
BARD1
Familial cancer of breast
rs1692211675
rs1692211675
ClinVar: pathogenic (2★) — Malignant tumor of breast|Familial cancer of breast | genotype: heterozygous (one copy)
null
cancer
BARD1
Malignant tumor of breast|Familial cancer of breast
rs1692211675
rs1692211675
ClinVar: pathogenic (2★) — Malignant tumor of breast|Familial cancer of breast | genotype: homozygous (two copies)
null
cancer
BARD1
Malignant tumor of breast|Familial cancer of breast
rs2469269496
rs2469269496
ClinVar: likely_pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy)
null
cancer
BARD1
Familial cancer of breast
rs2469269496
rs2469269496
ClinVar: likely_pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies)
null
cancer
BARD1
Familial cancer of breast
rs2105987094
ga4gh:VA.F9aJEGnfJOpEa8aCuwu4wyiGpQRPQD9_
ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial cancer of breast | genotype: heterozygous (one copy)
null
cancer
BARD1
Hereditary cancer-predisposing syndrome|Familial cancer of breast
rs2105987094
ga4gh:VA.F9aJEGnfJOpEa8aCuwu4wyiGpQRPQD9_
ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial cancer of breast | genotype: homozygous (two copies)
null
cancer
BARD1
Hereditary cancer-predisposing syndrome|Familial cancer of breast
rs2105987094
ga4gh:VA.FlsFnWe3RPl9HhwHh0Di110UW4Gro7ZM
ClinVar: likely_pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy)
null
cancer
BARD1
Familial cancer of breast
rs2105987094
ga4gh:VA.FlsFnWe3RPl9HhwHh0Di110UW4Gro7ZM
ClinVar: likely_pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies)
null
cancer
BARD1
Familial cancer of breast
rs2469269625
rs2469269625
ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy)
null
cancer
BARD1
Familial cancer of breast
rs2469269625
rs2469269625
ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies)
null
cancer
BARD1
Familial cancer of breast
null
2:214728857:TTGATGGTC:T
ClinVar: likely_pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy)
null
cancer
BARD1
Familial cancer of breast
null
2:214728857:TTGATGGTC:T
ClinVar: likely_pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies)
null
cancer
BARD1
Familial cancer of breast
rs786203811
rs786203811
ClinVar: pathogenic (2★) — not provided|Familial cancer of breast|Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy)
null
cancer
BARD1
not provided|Familial cancer of breast|Hereditary cancer-predisposing syndrome
rs786203811
rs786203811
ClinVar: pathogenic (2★) — not provided|Familial cancer of breast|Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies)
null
cancer
BARD1
not provided|Familial cancer of breast|Hereditary cancer-predisposing syndrome
rs1574703115
rs1574703115
ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial cancer of breast | genotype: heterozygous (one copy)
null
cancer
BARD1
Hereditary cancer-predisposing syndrome|Familial cancer of breast
rs1574703115
rs1574703115
ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial cancer of breast | genotype: homozygous (two copies)
null
cancer
BARD1
Hereditary cancer-predisposing syndrome|Familial cancer of breast
rs1553612164
rs1553612164
ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast | genotype: heterozygous (one copy)
null
cancer
BARD1
Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast
rs1553612164
rs1553612164
ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast | genotype: homozygous (two copies)
null
cancer
BARD1
Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast
rs2469269909
rs2469269909
ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy)
null
cancer
BARD1
Familial cancer of breast
rs2469269909
rs2469269909
ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies)
null
cancer
BARD1
Familial cancer of breast
rs2469269959
rs2469269959
ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy)
null
cancer
BARD1
Familial cancer of breast
rs2469269959
rs2469269959
ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies)
null
cancer
BARD1
Familial cancer of breast
null
2:214728874:G:GT
ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy)
null
cancer
BARD1
Hereditary cancer-predisposing syndrome
null
2:214728874:G:GT
ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies)
null
cancer
BARD1
Hereditary cancer-predisposing syndrome
rs1692216921
rs1692216921
ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial cancer of breast|not provided | genotype: heterozygous (one copy)
null
cancer
BARD1
Hereditary cancer-predisposing syndrome|Familial cancer of breast|not provided
rs1692216921
rs1692216921
ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial cancer of breast|not provided | genotype: homozygous (two copies)
null
cancer
BARD1
Hereditary cancer-predisposing syndrome|Familial cancer of breast|not provided
rs2469270108
rs2469270108
ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy)
null
cancer
BARD1
Familial cancer of breast
rs2469270108
rs2469270108
ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies)
null
cancer
BARD1
Familial cancer of breast
rs1692217798
rs1692217798
ClinVar: likely_pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy)
null
cancer
BARD1
Familial cancer of breast
rs1692217798
rs1692217798
ClinVar: likely_pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies)
null
cancer
BARD1
Familial cancer of breast
rs149262370
rs149262370
ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy)
null
cancer
BARD1
Hereditary cancer-predisposing syndrome
rs149262370
rs149262370
ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies)
null
cancer
BARD1
Hereditary cancer-predisposing syndrome
rs1064795005
rs1064795005
ClinVar: likely_pathogenic (2★) — not provided|Familial cancer of breast | genotype: heterozygous (one copy)
null
cancer
BARD1
not provided|Familial cancer of breast
rs1064795005
rs1064795005
ClinVar: likely_pathogenic (2★) — not provided|Familial cancer of breast | genotype: homozygous (two copies)
null
cancer
BARD1
not provided|Familial cancer of breast
rs2469270376
rs2469270376
ClinVar: pathogenic (2★) — Familial cancer of breast | genotype: heterozygous (one copy)
null
cancer
BARD1
Familial cancer of breast
rs2469270376
rs2469270376
ClinVar: pathogenic (2★) — Familial cancer of breast | genotype: homozygous (two copies)
null
cancer
BARD1
Familial cancer of breast
rs2105987421
rs2105987421
ClinVar: likely_pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy)
null
cancer
BARD1
Familial cancer of breast
rs2105987421
rs2105987421
ClinVar: likely_pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies)
null
cancer
BARD1
Familial cancer of breast
rs587782348
rs587782348
ClinVar: likely_pathogenic (2★) — BARD1-related cancer predisposition|Hereditary cancer-predisposing syndrome|Familial cancer of breast | genotype: heterozygous (one copy)
null
cancer
BARD1
BARD1-related cancer predisposition|Hereditary cancer-predisposing syndrome|Familial cancer of breast
rs587782348
rs587782348
ClinVar: likely_pathogenic (2★) — BARD1-related cancer predisposition|Hereditary cancer-predisposing syndrome|Familial cancer of breast | genotype: homozygous (two copies)
null
cancer
BARD1
BARD1-related cancer predisposition|Hereditary cancer-predisposing syndrome|Familial cancer of breast
rs1553612184
2:214728910:G:GC
ClinVar: likely_pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial cancer of breast | genotype: heterozygous (one copy)
null
cancer
BARD1
Hereditary cancer-predisposing syndrome|Familial cancer of breast
rs1553612184
2:214728910:G:GC
ClinVar: likely_pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial cancer of breast | genotype: homozygous (two copies)
null
cancer
BARD1
Hereditary cancer-predisposing syndrome|Familial cancer of breast
rs1553612184
2:214728910:G:GCC
ClinVar: likely_pathogenic (2★) — not provided|Familial cancer of breast | genotype: heterozygous (one copy)
null
cancer
BARD1
not provided|Familial cancer of breast
rs1553612184
2:214728910:G:GCC
ClinVar: likely_pathogenic (2★) — not provided|Familial cancer of breast | genotype: homozygous (two copies)
null
cancer
BARD1
not provided|Familial cancer of breast
rs1553612184
2:214728910:GC:G
ClinVar: likely_pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy)
null
cancer
BARD1
Familial cancer of breast
rs1553612184
2:214728910:GC:G
ClinVar: likely_pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies)
null
cancer
BARD1
Familial cancer of breast
rs2469270655
rs2469270655
ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy)
null
cancer
BARD1
Hereditary cancer-predisposing syndrome
rs2469270655
rs2469270655
ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies)
null
cancer
BARD1
Hereditary cancer-predisposing syndrome
rs1553612205
rs1553612205
ClinVar: likely_pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy)
null
cancer
BARD1
Familial cancer of breast
rs1553612205
rs1553612205
ClinVar: likely_pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies)
null
cancer
BARD1
Familial cancer of breast
null
ga4gh:VA.s7KT--z1ARgJYLZn7mbqNDNE2zL1cFST
ClinVar: likely_pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy)
null
cancer
BARD1
Familial cancer of breast
null
ga4gh:VA.s7KT--z1ARgJYLZn7mbqNDNE2zL1cFST
ClinVar: likely_pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies)
null
cancer
BARD1
Familial cancer of breast
rs2469270823
rs2469270823
ClinVar: likely_pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial cancer of breast | genotype: heterozygous (one copy)
null
cancer
BARD1
Hereditary cancer-predisposing syndrome|Familial cancer of breast
rs2469270823
rs2469270823
ClinVar: likely_pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial cancer of breast | genotype: homozygous (two copies)
null
cancer
BARD1
Hereditary cancer-predisposing syndrome|Familial cancer of breast
rs1064796026
rs1064796026
ClinVar: pathogenic (2★) — not provided|Hereditary cancer-predisposing syndrome|Familial cancer of breast | genotype: heterozygous (one copy)
null
cancer
BARD1
not provided|Hereditary cancer-predisposing syndrome|Familial cancer of breast
rs1064796026
rs1064796026
ClinVar: pathogenic (2★) — not provided|Hereditary cancer-predisposing syndrome|Familial cancer of breast | genotype: homozygous (two copies)
null
cancer
BARD1
not provided|Hereditary cancer-predisposing syndrome|Familial cancer of breast
rs2105987749
rs2105987749
ClinVar: pathogenic (2★) — Familial cancer of breast | genotype: heterozygous (one copy)
null
cancer
BARD1
Familial cancer of breast
rs2105987749
rs2105987749
ClinVar: pathogenic (2★) — Familial cancer of breast | genotype: homozygous (two copies)
null
cancer
BARD1
Familial cancer of breast
rs1559372578
rs1559372578
ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial cancer of breast | genotype: heterozygous (one copy)
null
cancer
BARD1
Hereditary cancer-predisposing syndrome|Familial cancer of breast
rs1559372578
rs1559372578
ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial cancer of breast | genotype: homozygous (two copies)
null
cancer
BARD1
Hereditary cancer-predisposing syndrome|Familial cancer of breast
rs1553612222
rs1553612222
ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial cancer of breast | genotype: heterozygous (one copy)
null
cancer
BARD1
Hereditary cancer-predisposing syndrome|Familial cancer of breast
rs1553612222
rs1553612222
ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial cancer of breast | genotype: homozygous (two copies)
null
cancer
BARD1
Hereditary cancer-predisposing syndrome|Familial cancer of breast
rs2469271103
rs2469271103
ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: heterozygous (one copy)
null
cancer
BARD1
Familial cancer of breast
rs2469271103
rs2469271103
ClinVar: pathogenic (1★) — Familial cancer of breast | genotype: homozygous (two copies)
null
cancer
BARD1
Familial cancer of breast
rs1692227690
rs1692227690
ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial cancer of breast | genotype: heterozygous (one copy)
null
cancer
BARD1
Hereditary cancer-predisposing syndrome|Familial cancer of breast
rs1692227690
rs1692227690
ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|Familial cancer of breast | genotype: homozygous (two copies)
null
cancer
BARD1
Hereditary cancer-predisposing syndrome|Familial cancer of breast