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111
conclusion
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10
1.08k
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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
rs1553152590
rs1553152590
ClinVar: pathogenic (2★) — Intellectual disability, autosomal dominant 14|not provided|Coffin-Siris syndrome 1 | genotype: heterozygous (one copy)
null
cancer
ARID1A
Intellectual disability, autosomal dominant 14|not provided|Coffin-Siris syndrome 1
rs1553152590
rs1553152590
ClinVar: pathogenic (2★) — Intellectual disability, autosomal dominant 14|not provided|Coffin-Siris syndrome 1 | genotype: homozygous (two copies)
null
cancer
ARID1A
Intellectual disability, autosomal dominant 14|not provided|Coffin-Siris syndrome 1
null
ga4gh:VA.NCHNlER2cVNfmCMvd1UhWnrOW1ShoOYn
ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy)
null
cancer
ARID1A
Intellectual disability, autosomal dominant 14
null
ga4gh:VA.NCHNlER2cVNfmCMvd1UhWnrOW1ShoOYn
ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies)
null
cancer
ARID1A
Intellectual disability, autosomal dominant 14
rs2124086560
rs2124086560
ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy)
null
cancer
ARID1A
Intellectual disability, autosomal dominant 14
rs2124086560
rs2124086560
ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies)
null
cancer
ARID1A
Intellectual disability, autosomal dominant 14
null
ga4gh:VA.fiqHHztPyt5yYALUgbosbV-YHqY1S25b
ClinVar: likely_pathogenic (2★) — Intellectual disability, autosomal dominant 14|not provided | genotype: heterozygous (one copy)
null
cancer
ARID1A
Intellectual disability, autosomal dominant 14|not provided
null
ga4gh:VA.fiqHHztPyt5yYALUgbosbV-YHqY1S25b
ClinVar: likely_pathogenic (2★) — Intellectual disability, autosomal dominant 14|not provided | genotype: homozygous (two copies)
null
cancer
ARID1A
Intellectual disability, autosomal dominant 14|not provided
rs1557612048
ga4gh:VA.fpM3uBmAPTcAFBATeWM8rf4l3DjdaLR1
ClinVar: pathogenic (2★) — Intellectual disability, autosomal dominant 14|not provided | genotype: heterozygous (one copy)
null
cancer
ARID1A
Intellectual disability, autosomal dominant 14|not provided
rs1557612048
ga4gh:VA.fpM3uBmAPTcAFBATeWM8rf4l3DjdaLR1
ClinVar: pathogenic (2★) — Intellectual disability, autosomal dominant 14|not provided | genotype: homozygous (two copies)
null
cancer
ARID1A
Intellectual disability, autosomal dominant 14|not provided
rs1557612048
ga4gh:VA.h-lK0xubp38NfLNiKSlmz2XGFIeT88Uu
ClinVar: likely_pathogenic (2★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy)
null
cancer
ARID1A
Intellectual disability, autosomal dominant 14
rs1557612048
ga4gh:VA.h-lK0xubp38NfLNiKSlmz2XGFIeT88Uu
ClinVar: likely_pathogenic (2★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies)
null
cancer
ARID1A
Intellectual disability, autosomal dominant 14
null
1:26767892:AC:A
ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy)
null
cancer
ARID1A
Intellectual disability, autosomal dominant 14
null
1:26767892:AC:A
ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies)
null
cancer
ARID1A
Intellectual disability, autosomal dominant 14
rs2124087389
rs2124087389
ClinVar: likely_pathogenic (1★) — ARID1A-related BAFopathy | genotype: heterozygous (one copy)
null
cancer
ARID1A
ARID1A-related BAFopathy
rs2124087389
rs2124087389
ClinVar: likely_pathogenic (1★) — ARID1A-related BAFopathy | genotype: homozygous (two copies)
null
cancer
ARID1A
ARID1A-related BAFopathy
rs1570609440
rs1570609440
ClinVar: likely_pathogenic (1★) — ARID1A-related BAFopathy|Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy)
null
cancer
ARID1A
ARID1A-related BAFopathy|Intellectual disability, autosomal dominant 14
rs1570609440
rs1570609440
ClinVar: likely_pathogenic (1★) — ARID1A-related BAFopathy|Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies)
null
cancer
ARID1A
ARID1A-related BAFopathy|Intellectual disability, autosomal dominant 14
rs2124087488
rs2124087488
ClinVar: likely_pathogenic (1★) — Neurodevelopmental delay | genotype: heterozygous (one copy)
null
cancer
ARID1A
Neurodevelopmental delay
rs2124087488
rs2124087488
ClinVar: likely_pathogenic (1★) — Neurodevelopmental delay | genotype: homozygous (two copies)
null
cancer
ARID1A
Neurodevelopmental delay
null
ga4gh:VA.VNxNB9sl_pV1o2N-uned2Lv_8bSQ0zLK
ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy)
null
cancer
ARID1A
Intellectual disability, autosomal dominant 14
null
ga4gh:VA.VNxNB9sl_pV1o2N-uned2Lv_8bSQ0zLK
ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies)
null
cancer
ARID1A
Intellectual disability, autosomal dominant 14
rs2521936399
rs2521936399
ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy)
null
cancer
ARID1A
not provided
rs2521936399
rs2521936399
ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies)
null
cancer
ARID1A
not provided
rs2124087634
rs2124087634
ClinVar: likely_pathogenic (2★) — not provided|Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy)
null
cancer
ARID1A
not provided|Intellectual disability, autosomal dominant 14
rs2124087634
rs2124087634
ClinVar: likely_pathogenic (2★) — not provided|Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies)
null
cancer
ARID1A
not provided|Intellectual disability, autosomal dominant 14
rs2124087817
rs2124087817
ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy)
null
cancer
ARID1A
not provided
rs2124087817
rs2124087817
ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies)
null
cancer
ARID1A
not provided
rs2081053546
rs2081053546
ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy)
null
cancer
ARID1A
Intellectual disability, autosomal dominant 14
rs2081053546
rs2081053546
ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies)
null
cancer
ARID1A
Intellectual disability, autosomal dominant 14
null
1:26767998:AG:A
ClinVar: likely_pathogenic (1★) — Intellectual disability | genotype: heterozygous (one copy)
null
cancer
ARID1A
Intellectual disability
null
1:26767998:AG:A
ClinVar: likely_pathogenic (1★) — Intellectual disability | genotype: homozygous (two copies)
null
cancer
ARID1A
Intellectual disability
null
ga4gh:VA.w0L6SbQAJQe0kznYAlHicj5KH0wXEyrH
ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy)
null
cancer
ARID1A
Intellectual disability, autosomal dominant 14
null
ga4gh:VA.w0L6SbQAJQe0kznYAlHicj5KH0wXEyrH
ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies)
null
cancer
ARID1A
Intellectual disability, autosomal dominant 14
null
ga4gh:VA.0c575I1m1aqPDdE58LTKFjThSL7n43Kn
ClinVar: likely_pathogenic (2★) — Intellectual disability, autosomal dominant 14|not provided | genotype: heterozygous (one copy)
null
cancer
ARID1A
Intellectual disability, autosomal dominant 14|not provided
null
ga4gh:VA.0c575I1m1aqPDdE58LTKFjThSL7n43Kn
ClinVar: likely_pathogenic (2★) — Intellectual disability, autosomal dominant 14|not provided | genotype: homozygous (two copies)
null
cancer
ARID1A
Intellectual disability, autosomal dominant 14|not provided
rs1030084592
rs1030084592
ClinVar: pathogenic (2★) — Intellectual disability, autosomal dominant 14|not provided|Inborn genetic diseases | genotype: heterozygous (one copy)
null
cancer
ARID1A
Intellectual disability, autosomal dominant 14|not provided|Inborn genetic diseases
rs1030084592
rs1030084592
ClinVar: pathogenic (2★) — Intellectual disability, autosomal dominant 14|not provided|Inborn genetic diseases | genotype: homozygous (two copies)
null
cancer
ARID1A
Intellectual disability, autosomal dominant 14|not provided|Inborn genetic diseases
rs2124097438
rs2124097438
ClinVar: pathogenic (2★) — Intellectual disability, autosomal dominant 14|not provided | genotype: heterozygous (one copy)
null
cancer
ARID1A
Intellectual disability, autosomal dominant 14|not provided
rs2124097438
rs2124097438
ClinVar: pathogenic (2★) — Intellectual disability, autosomal dominant 14|not provided | genotype: homozygous (two copies)
null
cancer
ARID1A
Intellectual disability, autosomal dominant 14|not provided
null
ga4gh:VA.SIAV51YVbbUzj1y-43KJKHNK2BVG73PN
ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy)
null
cancer
ARID1A
not provided
null
ga4gh:VA.SIAV51YVbbUzj1y-43KJKHNK2BVG73PN
ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies)
null
cancer
ARID1A
not provided
rs1085307923
rs1085307923
ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy)
null
cancer
ARID1A
not provided
rs1085307923
rs1085307923
ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies)
null
cancer
ARID1A
not provided
null
ga4gh:VA.jG6JPdju-9A0b_rNE8XFdrj1001yarwI
ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy)
null
cancer
ARID1A
not provided
null
ga4gh:VA.jG6JPdju-9A0b_rNE8XFdrj1001yarwI
ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies)
null
cancer
ARID1A
not provided
rs2124111295
rs2124111295
ClinVar: pathogenic (1★) — Inborn genetic diseases | genotype: heterozygous (one copy)
null
cancer
ARID1A
Inborn genetic diseases
rs2124111295
rs2124111295
ClinVar: pathogenic (1★) — Inborn genetic diseases | genotype: homozygous (two copies)
null
cancer
ARID1A
Inborn genetic diseases
rs2521983222
rs2521983222
ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy)
null
cancer
ARID1A
Intellectual disability, autosomal dominant 14
rs2521983222
rs2521983222
ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies)
null
cancer
ARID1A
Intellectual disability, autosomal dominant 14
rs1553153130
rs1553153130
ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy)
null
cancer
ARID1A
not provided
rs1553153130
rs1553153130
ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies)
null
cancer
ARID1A
not provided
null
ga4gh:VA.tE8MF095H6UdxVQX8YE3IFqY1mxry1Je
ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy)
null
cancer
ARID1A
not provided
null
ga4gh:VA.tE8MF095H6UdxVQX8YE3IFqY1mxry1Je
ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies)
null
cancer
ARID1A
not provided
rs387906846
rs387906846
ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14|Coffin-Siris syndrome 1 | genotype: heterozygous (one copy)
null
cancer
ARID1A
Intellectual disability, autosomal dominant 14|Coffin-Siris syndrome 1
rs387906846
rs387906846
ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14|Coffin-Siris syndrome 1 | genotype: homozygous (two copies)
null
cancer
ARID1A
Intellectual disability, autosomal dominant 14|Coffin-Siris syndrome 1
rs2124114899
rs2124114899
ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy)
null
cancer
ARID1A
Intellectual disability, autosomal dominant 14
rs2124114899
rs2124114899
ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies)
null
cancer
ARID1A
Intellectual disability, autosomal dominant 14
rs2124115285
rs2124115285
ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy)
null
cancer
ARID1A
Intellectual disability, autosomal dominant 14
rs2124115285
rs2124115285
ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies)
null
cancer
ARID1A
Intellectual disability, autosomal dominant 14
rs2081109271
rs2081109271
ClinVar: likely_pathogenic (2★) — Neurodevelopmental delay|not provided | genotype: heterozygous (one copy)
null
cancer
ARID1A
Neurodevelopmental delay|not provided
rs2081109271
rs2081109271
ClinVar: likely_pathogenic (2★) — Neurodevelopmental delay|not provided | genotype: homozygous (two copies)
null
cancer
ARID1A
Neurodevelopmental delay|not provided
rs2081113293
rs2081113293
ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy)
null
cancer
ARID1A
Intellectual disability, autosomal dominant 14
rs2081113293
rs2081113293
ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies)
null
cancer
ARID1A
Intellectual disability, autosomal dominant 14
rs2521999900
rs2521999900
ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy)
null
cancer
ARID1A
not provided
rs2521999900
rs2521999900
ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies)
null
cancer
ARID1A
not provided
null
1:26774796:T:TCATGG
ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy)
null
cancer
ARID1A
not provided
null
1:26774796:T:TCATGG
ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies)
null
cancer
ARID1A
not provided
rs2124120683
rs2124120683
ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy)
null
cancer
ARID1A
Intellectual disability, autosomal dominant 14
rs2124120683
rs2124120683
ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies)
null
cancer
ARID1A
Intellectual disability, autosomal dominant 14
null
ga4gh:VA.2-KMueIZg49fqK8IAxgYUnMqdEPuD7jk
ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy)
null
cancer
ARID1A
not provided
null
ga4gh:VA.2-KMueIZg49fqK8IAxgYUnMqdEPuD7jk
ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies)
null
cancer
ARID1A
not provided
null
1:26774935:TCTAA:T
ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy)
null
cancer
ARID1A
not provided
null
1:26774935:TCTAA:T
ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies)
null
cancer
ARID1A
not provided
null
1:26775064:ATGCAGAAGGCAGGTCCCCCAGTACCTGCC:A
ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy)
null
cancer
ARID1A
Intellectual disability, autosomal dominant 14
null
1:26775064:ATGCAGAAGGCAGGTCCCCCAGTACCTGCC:A
ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies)
null
cancer
ARID1A
Intellectual disability, autosomal dominant 14
rs1553153291
rs1553153291
ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy)
null
cancer
ARID1A
Intellectual disability, autosomal dominant 14
rs1553153291
rs1553153291
ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies)
null
cancer
ARID1A
Intellectual disability, autosomal dominant 14
null
1:26775699:CTCAG:C
ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy)
null
cancer
ARID1A
Intellectual disability, autosomal dominant 14
null
1:26775699:CTCAG:C
ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies)
null
cancer
ARID1A
Intellectual disability, autosomal dominant 14
rs797045264
rs797045264
ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy)
null
cancer
ARID1A
Intellectual disability, autosomal dominant 14
rs797045264
rs797045264
ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies)
null
cancer
ARID1A
Intellectual disability, autosomal dominant 14
rs1485978447
rs1485978447
ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy)
null
cancer
ARID1A
Intellectual disability, autosomal dominant 14
rs1485978447
rs1485978447
ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies)
null
cancer
ARID1A
Intellectual disability, autosomal dominant 14
rs2522034049
rs2522034049
ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy)
null
cancer
ARID1A
Intellectual disability, autosomal dominant 14
rs2522034049
rs2522034049
ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies)
null
cancer
ARID1A
Intellectual disability, autosomal dominant 14
null
1:26779155:G:GTGTC
ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy)
null
cancer
ARID1A
Intellectual disability, autosomal dominant 14
null
1:26779155:G:GTGTC
ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies)
null
cancer
ARID1A
Intellectual disability, autosomal dominant 14
rs1064796010
rs1064796010
ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy)
null
cancer
ARID1A
not provided
rs1064796010
rs1064796010
ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies)
null
cancer
ARID1A
not provided
rs2124138237
rs2124138237
ClinVar: pathogenic (1★) — Inborn genetic diseases | genotype: heterozygous (one copy)
null
cancer
ARID1A
Inborn genetic diseases
rs2124138237
rs2124138237
ClinVar: pathogenic (1★) — Inborn genetic diseases | genotype: homozygous (two copies)
null
cancer
ARID1A
Inborn genetic diseases
rs1064794151
rs1064794151
ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy)
null
cancer
ARID1A
not provided
rs1064794151
rs1064794151
ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies)
null
cancer
ARID1A
not provided
null
1:26779370:G:GGT
ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy)
null
cancer
ARID1A
Intellectual disability, autosomal dominant 14
null
1:26779370:G:GGT
ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies)
null
cancer
ARID1A
Intellectual disability, autosomal dominant 14
rs2081169212
rs2081169212
ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy)
null
cancer
ARID1A
Intellectual disability, autosomal dominant 14
rs2081169212
rs2081169212
ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies)
null
cancer
ARID1A
Intellectual disability, autosomal dominant 14
rs2124140469
rs2124140469
ClinVar: pathogenic (1★) — Malignant tumor of urinary bladder|Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy)
null
cancer
ARID1A
Malignant tumor of urinary bladder|Intellectual disability, autosomal dominant 14
rs2124140469
rs2124140469
ClinVar: pathogenic (1★) — Malignant tumor of urinary bladder|Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies)
null
cancer
ARID1A
Malignant tumor of urinary bladder|Intellectual disability, autosomal dominant 14