rsid
large_string
variant_key
large_string
genotype
large_string
conclusion
large_string
negatives
large_string
module
large_string
gene
large_string
phenotype
large_string
category
large_string
rs2132956266
rs2132956266
C/G
ClinVar: likely_pathogenic (1★) — Congenital heart defects and skeletal malformations syndrome | genotype: heterozygous (one copy)
null
cancer
ABL1
Congenital heart defects and skeletal malformations syndrome
rs2132956266
rs2132956266
C/C
ClinVar: likely_pathogenic (1★) — Congenital heart defects and skeletal malformations syndrome | genotype: homozygous (two copies)
null
cancer
ABL1
Congenital heart defects and skeletal malformations syndrome
rs1830947813
rs1830947813
C/T
ClinVar: likely_pathogenic (2★) — Congenital heart defects and skeletal malformations syndrome | genotype: heterozygous (one copy)
null
cancer
ABL1
Congenital heart defects and skeletal malformations syndrome
rs1830947813
rs1830947813
C/C
ClinVar: likely_pathogenic (2★) — Congenital heart defects and skeletal malformations syndrome | genotype: homozygous (two copies)
null
cancer
ABL1
Congenital heart defects and skeletal malformations syndrome
rs1060499547
rs1060499547
A/G
ClinVar: pathogenic (2★) — Congenital heart defects and skeletal malformations syndrome|not provided|Failure to thrive|Congenital heart disease|Abnormal skeletal morphology | genotype: heterozygous (one copy)
null
cancer
ABL1
Congenital heart defects and skeletal malformations syndrome|not provided|Failure to thrive|Congenital heart disease|Abnormal skeletal morphology
rs1060499547
rs1060499547
G/G
ClinVar: pathogenic (2★) — Congenital heart defects and skeletal malformations syndrome|not provided|Failure to thrive|Congenital heart disease|Abnormal skeletal morphology | genotype: homozygous (two copies)
null
cancer
ABL1
Congenital heart defects and skeletal malformations syndrome|not provided|Failure to thrive|Congenital heart disease|Abnormal skeletal morphology
rs1831097846
rs1831097846
C/T
ClinVar: likely_pathogenic (2★) — Congenital heart defects and skeletal malformations syndrome|not provided | genotype: heterozygous (one copy)
null
cancer
ABL1
Congenital heart defects and skeletal malformations syndrome|not provided
rs1831097846
rs1831097846
T/T
ClinVar: likely_pathogenic (2★) — Congenital heart defects and skeletal malformations syndrome|not provided | genotype: homozygous (two copies)
null
cancer
ABL1
Congenital heart defects and skeletal malformations syndrome|not provided
rs121913456
rs121913456
A/G
ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy)
null
cancer
ABL1
not provided
rs121913456
rs121913456
G/G
ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies)
null
cancer
ABL1
not provided
rs1831099962
rs1831099962
A/G
ClinVar: pathogenic (2★) — ABL1-related disorder|Congenital heart defects and skeletal malformations syndrome|not provided | genotype: heterozygous (one copy)
null
cancer
ABL1
ABL1-related disorder|Congenital heart defects and skeletal malformations syndrome|not provided
rs1831099962
rs1831099962
A/A
ClinVar: pathogenic (2★) — ABL1-related disorder|Congenital heart defects and skeletal malformations syndrome|not provided | genotype: homozygous (two copies)
null
cancer
ABL1
ABL1-related disorder|Congenital heart defects and skeletal malformations syndrome|not provided
rs2490715483
rs2490715483
A/T
ClinVar: likely_pathogenic (1★) — Congenital heart defects and skeletal malformations syndrome | genotype: heterozygous (one copy)
null
cancer
ABL1
Congenital heart defects and skeletal malformations syndrome
rs2490715483
rs2490715483
T/T
ClinVar: likely_pathogenic (1★) — Congenital heart defects and skeletal malformations syndrome | genotype: homozygous (two copies)
null
cancer
ABL1
Congenital heart defects and skeletal malformations syndrome
rs121913459
rs121913459
C/T
ClinVar: likely_pathogenic (2★) — Chronic myeloid leukemia|Leukemia, Philadelphia chromosome-positive, resistant to imatinib | genotype: heterozygous (one copy)
null
cancer
ABL1
Chronic myeloid leukemia|Leukemia, Philadelphia chromosome-positive, resistant to imatinib
rs121913459
rs121913459
T/T
ClinVar: likely_pathogenic (2★) — Chronic myeloid leukemia|Leukemia, Philadelphia chromosome-positive, resistant to imatinib | genotype: homozygous (two copies)
null
cancer
ABL1
Chronic myeloid leukemia|Leukemia, Philadelphia chromosome-positive, resistant to imatinib
rs1060499548
rs1060499548
A/G
ClinVar: pathogenic (2★) — Congenital heart disease|Abnormal skeletal morphology|Failure to thrive|not provided|Congenital heart defects and skeletal malformations syndrome | genotype: heterozygous (one copy)
null
cancer
ABL1
Congenital heart disease|Abnormal skeletal morphology|Failure to thrive|not provided|Congenital heart defects and skeletal malformations syndrome
rs1060499548
rs1060499548
A/A
ClinVar: pathogenic (2★) — Congenital heart disease|Abnormal skeletal morphology|Failure to thrive|not provided|Congenital heart defects and skeletal malformations syndrome | genotype: homozygous (two copies)
null
cancer
ABL1
Congenital heart disease|Abnormal skeletal morphology|Failure to thrive|not provided|Congenital heart defects and skeletal malformations syndrome
null
ga4gh:VA.MjX7fwdd3_C_fBFYG89RSlDd3e8aCA2I
A/G
ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy)
null
cancer
ABL1
not provided
null
ga4gh:VA.MjX7fwdd3_C_fBFYG89RSlDd3e8aCA2I
G/G
ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies)
null
cancer
ABL1
not provided
rs2490721921
rs2490721921
A/C
ClinVar: likely_pathogenic (1★) — Congenital heart defects and skeletal malformations syndrome | genotype: heterozygous (one copy)
null
cancer
ABL1
Congenital heart defects and skeletal malformations syndrome
rs2490721921
rs2490721921
C/C
ClinVar: likely_pathogenic (1★) — Congenital heart defects and skeletal malformations syndrome | genotype: homozygous (two copies)
null
cancer
ABL1
Congenital heart defects and skeletal malformations syndrome
rs1831388695
rs1831388695
A/G
ClinVar: likely_pathogenic (2★) — Congenital heart defects and skeletal malformations syndrome|not provided | genotype: heterozygous (one copy)
null
cancer
ABL1
Congenital heart defects and skeletal malformations syndrome|not provided
rs1831388695
rs1831388695
A/A
ClinVar: likely_pathogenic (2★) — Congenital heart defects and skeletal malformations syndrome|not provided | genotype: homozygous (two copies)
null
cancer
ABL1
Congenital heart defects and skeletal malformations syndrome|not provided
rs2133017541
rs2133017541
A/G
ClinVar: pathogenic (1★) — not provided|Congenital heart defects and skeletal malformations syndrome | genotype: heterozygous (one copy)
null
cancer
ABL1
not provided|Congenital heart defects and skeletal malformations syndrome
rs2133017541
rs2133017541
A/A
ClinVar: pathogenic (1★) — not provided|Congenital heart defects and skeletal malformations syndrome | genotype: homozygous (two copies)
null
cancer
ABL1
not provided|Congenital heart defects and skeletal malformations syndrome
rs2133022634
rs2133022634
A/G
ClinVar: likely_pathogenic (1★) — Congenital heart defects and skeletal malformations syndrome | genotype: heterozygous (one copy)
null
cancer
ABL1
Congenital heart defects and skeletal malformations syndrome
rs2133022634
rs2133022634
G/G
ClinVar: likely_pathogenic (1★) — Congenital heart defects and skeletal malformations syndrome | genotype: homozygous (two copies)
null
cancer
ABL1
Congenital heart defects and skeletal malformations syndrome
rs1831432715
rs1831432715
A/G
ClinVar: pathogenic (2★) — not provided|Congenital heart defects and skeletal malformations syndrome | genotype: heterozygous (one copy)
null
cancer
ABL1
not provided|Congenital heart defects and skeletal malformations syndrome
rs1831432715
rs1831432715
A/A
ClinVar: pathogenic (2★) — not provided|Congenital heart defects and skeletal malformations syndrome | genotype: homozygous (two copies)
null
cancer
ABL1
not provided|Congenital heart defects and skeletal malformations syndrome
rs1831432776
rs1831432776
C/T
ClinVar: pathogenic (2★) — Microcephaly|Congenital heart defects and skeletal malformations syndrome | genotype: heterozygous (one copy)
null
cancer
ABL1
Microcephaly|Congenital heart defects and skeletal malformations syndrome
rs1831432776
rs1831432776
C/C
ClinVar: pathogenic (2★) — Microcephaly|Congenital heart defects and skeletal malformations syndrome | genotype: homozygous (two copies)
null
cancer
ABL1
Microcephaly|Congenital heart defects and skeletal malformations syndrome
rs1831433011
rs1831433011
A/G
ClinVar: pathogenic (2★) — Congenital heart defects and skeletal malformations syndrome|not provided | genotype: heterozygous (one copy)
null
cancer
ABL1
Congenital heart defects and skeletal malformations syndrome|not provided
rs1831433011
rs1831433011
A/A
ClinVar: pathogenic (2★) — Congenital heart defects and skeletal malformations syndrome|not provided | genotype: homozygous (two copies)
null
cancer
ABL1
Congenital heart defects and skeletal malformations syndrome|not provided
rs1355021408
rs1355021408
C/T
ClinVar: likely_pathogenic (1★) — Congenital heart defects and skeletal malformations syndrome | genotype: heterozygous (one copy)
null
cancer
ABL1
Congenital heart defects and skeletal malformations syndrome
rs1355021408
rs1355021408
T/T
ClinVar: likely_pathogenic (1★) — Congenital heart defects and skeletal malformations syndrome | genotype: homozygous (two copies)
null
cancer
ABL1
Congenital heart defects and skeletal malformations syndrome
null
11:67483152:AAGG:A
A/AAGG
ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy)
null
cancer
AIP
Hereditary cancer-predisposing syndrome
null
11:67483152:AAGG:A
A/A
ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies)
null
cancer
AIP
Hereditary cancer-predisposing syndrome
null
ga4gh:VA.8FH_z6ZR6T6nTVt143vXfsxZi1hMbAKK
A/G
ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy)
null
cancer
AIP
Hereditary cancer-predisposing syndrome
null
ga4gh:VA.8FH_z6ZR6T6nTVt143vXfsxZi1hMbAKK
G/G
ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies)
null
cancer
AIP
Hereditary cancer-predisposing syndrome
null
ga4gh:VA.uO8sBnBbpV05py1bECmMEycNFpwKn7SL
G/T
ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy)
null
cancer
AIP
Hereditary cancer-predisposing syndrome
null
ga4gh:VA.uO8sBnBbpV05py1bECmMEycNFpwKn7SL
G/G
ClinVar: likely_pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies)
null
cancer
AIP
Hereditary cancer-predisposing syndrome
rs886037871
rs886037871
A/G
ClinVar: likely_pathogenic (1★) — Familial isolated pituitary adenoma | genotype: heterozygous (one copy)
null
cancer
AIP
Familial isolated pituitary adenoma
rs886037871
rs886037871
A/A
ClinVar: likely_pathogenic (1★) — Familial isolated pituitary adenoma | genotype: homozygous (two copies)
null
cancer
AIP
Familial isolated pituitary adenoma
rs104894194
rs104894194
C/T
ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|not provided|Pituitary adenoma predisposition|Somatotroph adenoma | genotype: heterozygous (one copy)
null
cancer
AIP
Hereditary cancer-predisposing syndrome|not provided|Pituitary adenoma predisposition|Somatotroph adenoma
rs104894194
rs104894194
T/T
ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|not provided|Pituitary adenoma predisposition|Somatotroph adenoma | genotype: homozygous (two copies)
null
cancer
AIP
Hereditary cancer-predisposing syndrome|not provided|Pituitary adenoma predisposition|Somatotroph adenoma
rs2495387711
rs2495387711
C/CAAAAACG
ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy)
null
cancer
AIP
not provided
rs2495387711
rs2495387711
C/C
ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies)
null
cancer
AIP
not provided
null
11:67483203:AC:A
A/AC
ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy)
null
cancer
AIP
not provided
null
11:67483203:AC:A
A/A
ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies)
null
cancer
AIP
not provided
rs267606568
rs267606568
G/T
ClinVar: pathogenic (1★) — not provided|Somatotroph adenoma | genotype: heterozygous (one copy)
null
cancer
AIP
not provided|Somatotroph adenoma
rs267606568
rs267606568
T/T
ClinVar: pathogenic (1★) — not provided|Somatotroph adenoma | genotype: homozygous (two copies)
null
cancer
AIP
not provided|Somatotroph adenoma
rs969013352
rs969013352
C/T
ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy)
null
cancer
AIP
not provided
rs969013352
rs969013352
T/T
ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies)
null
cancer
AIP
not provided
null
ga4gh:VA.v7ixKkTVtwW3fMcHLd1V7Ifmn2BpFPCr
A/G
ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy)
null
cancer
AIP
not provided
null
ga4gh:VA.v7ixKkTVtwW3fMcHLd1V7Ifmn2BpFPCr
A/A
ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies)
null
cancer
AIP
not provided
null
ga4gh:VA.CQ2Up7Nwn8zPo7ee3-pKjWDBNE1p7pfu
G/T
ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy)
null
cancer
AIP
not provided
null
ga4gh:VA.CQ2Up7Nwn8zPo7ee3-pKjWDBNE1p7pfu
T/T
ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies)
null
cancer
AIP
not provided
null
11:67487007:C:CCGTG
C/CCGTG
ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy)
null
cancer
AIP
not provided
null
11:67487007:C:CCGTG
CCGTG/CCGTG
ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies)
null
cancer
AIP
not provided
null
11:67487011:GT:G
G/GT
ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy)
null
cancer
AIP
not provided
null
11:67487011:GT:G
G/G
ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies)
null
cancer
AIP
not provided
null
11:67487104:G:GA
G/GA
ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy)
null
cancer
AIP
Hereditary cancer-predisposing syndrome
null
11:67487104:G:GA
GA/GA
ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies)
null
cancer
AIP
Hereditary cancer-predisposing syndrome
rs1591042753
rs1591042753
A/G
ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy)
null
cancer
AIP
Hereditary cancer-predisposing syndrome
rs1591042753
rs1591042753
A/A
ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies)
null
cancer
AIP
Hereditary cancer-predisposing syndrome
rs987431392
rs987431392
A/G
ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy)
null
cancer
AIP
Hereditary cancer-predisposing syndrome
rs987431392
rs987431392
A/A
ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies)
null
cancer
AIP
Hereditary cancer-predisposing syndrome
null
11:67487129:A:AC
A/AC
ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy)
null
cancer
AIP
Hereditary cancer-predisposing syndrome
null
11:67487129:A:AC
AC/AC
ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies)
null
cancer
AIP
Hereditary cancer-predisposing syndrome
rs267606541
rs267606541
C/T
ClinVar: pathogenic (2★) — Somatotroph adenoma|Hereditary cancer-predisposing syndrome|not provided | genotype: heterozygous (one copy)
null
cancer
AIP
Somatotroph adenoma|Hereditary cancer-predisposing syndrome|not provided
rs267606541
rs267606541
T/T
ClinVar: pathogenic (2★) — Somatotroph adenoma|Hereditary cancer-predisposing syndrome|not provided | genotype: homozygous (two copies)
null
cancer
AIP
Somatotroph adenoma|Hereditary cancer-predisposing syndrome|not provided
rs2495396380
rs2495396380
G/GGA
ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy)
null
cancer
AIP
not provided
rs2495396380
rs2495396380
G/G
ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies)
null
cancer
AIP
not provided
rs2134251305
rs2134251305
C/T
ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy)
null
cancer
AIP
not provided
rs2134251305
rs2134251305
T/T
ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies)
null
cancer
AIP
not provided
rs1865848848
rs1865848848
G/GC
ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy)
null
cancer
AIP
not provided
rs1865848848
rs1865848848
G/G
ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies)
null
cancer
AIP
not provided
rs2495401581
rs2495401581
G/GACCC
ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy)
null
cancer
AIP
Hereditary cancer-predisposing syndrome
rs2495401581
rs2495401581
GACCC/GACCC
ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies)
null
cancer
AIP
Hereditary cancer-predisposing syndrome
rs2134253352
rs2134253352
A/AC
ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy)
null
cancer
AIP
not provided
rs2134253352
rs2134253352
AC/AC
ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies)
null
cancer
AIP
not provided
rs1159928352
rs1159928352
C/CGGCACTGCTGCGGTGT
ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy)
null
cancer
AIP
Hereditary cancer-predisposing syndrome
rs1159928352
rs1159928352
C/C
ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies)
null
cancer
AIP
Hereditary cancer-predisposing syndrome
rs2495401766
rs2495401766
C/CTG
ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy)
null
cancer
AIP
Hereditary cancer-predisposing syndrome
rs2495401766
rs2495401766
C/C
ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies)
null
cancer
AIP
Hereditary cancer-predisposing syndrome
rs1459480763
rs1459480763
C/T
ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|not provided | genotype: heterozygous (one copy)
null
cancer
AIP
Hereditary cancer-predisposing syndrome|not provided
rs1459480763
rs1459480763
T/T
ClinVar: pathogenic (2★) — Hereditary cancer-predisposing syndrome|not provided | genotype: homozygous (two copies)
null
cancer
AIP
Hereditary cancer-predisposing syndrome|not provided
rs267606552
rs267606552
C/T
ClinVar: pathogenic (1★) — Somatotroph adenoma|Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy)
null
cancer
AIP
Somatotroph adenoma|Hereditary cancer-predisposing syndrome
rs267606552
rs267606552
T/T
ClinVar: pathogenic (1★) — Somatotroph adenoma|Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies)
null
cancer
AIP
Somatotroph adenoma|Hereditary cancer-predisposing syndrome
rs750938556
rs750938556
C/T
ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy)
null
cancer
AIP
not provided
rs750938556
rs750938556
T/T
ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies)
null
cancer
AIP
not provided
null
11:67489416:GAA:G
G/GAA
ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy)
null
cancer
AIP
Hereditary cancer-predisposing syndrome
null
11:67489416:GAA:G
G/G
ClinVar: pathogenic (1★) — Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies)
null
cancer
AIP
Hereditary cancer-predisposing syndrome
rs104895073
rs104895073
C/T
ClinVar: pathogenic (1★) — Somatotroph adenoma|Hereditary cancer-predisposing syndrome | genotype: heterozygous (one copy)
null
cancer
AIP
Somatotroph adenoma|Hereditary cancer-predisposing syndrome
rs104895073
rs104895073
T/T
ClinVar: pathogenic (1★) — Somatotroph adenoma|Hereditary cancer-predisposing syndrome | genotype: homozygous (two copies)
null
cancer
AIP
Somatotroph adenoma|Hereditary cancer-predisposing syndrome
rs2495405101
rs2495405101
C/T
ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy)
null
cancer
AIP
not provided
rs2495405101
rs2495405101
T/T
ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies)
null
cancer
AIP
not provided
rs2495405147
rs2495405147
C/CCCATGGG
ClinVar: pathogenic (2★) — not provided|Somatotroph adenoma | genotype: heterozygous (one copy)
null
cancer
AIP
not provided|Somatotroph adenoma
rs2495405147
rs2495405147
C/C
ClinVar: pathogenic (2★) — not provided|Somatotroph adenoma | genotype: homozygous (two copies)
null
cancer
AIP
not provided|Somatotroph adenoma