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Links from MedGen

Items: 11

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr11:108204603
GRCh38:
Chr11:108333876
ATM, C11orf65not provided, Ataxia-telangiectasia syndromeUncertain significance
(Aug 7, 2023)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr11:108170471
GRCh38:
Chr11:108299744
ATMG1679DHereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndromeUncertain significance
(Sep 23, 2022)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr2:215617262
GRCh38:
Chr2:214752538
BARD1R529Q, R510Q, R78Q, R59Qnot specified, Hereditary cancer-predisposing syndrome, not provided,
Familial cancer of breast
Conflicting interpretations of pathogenicity
(Sep 29, 2023)
criteria provided, conflicting interpretations
4.
GRCh37:
Chr2:215595173
GRCh38:
Chr2:214730449
BARD1E655Q, E142Q, E204Q, E185Q, E636QHereditary cancer-predisposing syndrome, not provided, Familial cancer of breast
Uncertain significance
(Aug 28, 2023)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr11:108098352
GRCh38:
Chr11:108227625
ATMM1VHereditary cancer-predisposing syndrome, not provided, Ataxia-telangiectasia syndrome,
Familial cancer of breast
Pathogenic/Likely pathogenic
(Feb 3, 2023)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr11:108139302
GRCh38:
Chr11:108268575
ATMT935MAtaxia-telangiectasia syndrome, not specified, Hereditary cancer-predisposing syndrome,
not provided, Familial cancer of breast
Conflicting interpretations of pathogenicity
(May 19, 2023)
criteria provided, conflicting interpretations
7.
GRCh37:
Chr2:215632326
GRCh38:
Chr2:214767602
BARD1H483R, H464RHereditary cancer-predisposing syndrome, Breast neoplasm, not provided,
Familial cancer of breast
Conflicting interpretations of pathogenicity
(Apr 11, 2023)
criteria provided, conflicting interpretations
8.
GRCh37:
Chr11:108173748
GRCh38:
Chr11:108303021
ATMM1830VATM-related condition, Hereditary cancer-predisposing syndrome, not specified,
not provided, Hereditary breast ovarian cancer syndrome, Ataxia-telangiectasia syndrome
Conflicting interpretations of pathogenicity
(Apr 4, 2023)
criteria provided, conflicting interpretations
9.
GRCh37:
Chr11:108124602
GRCh38:
Chr11:108253875
ATMQ654KHereditary cancer-predisposing syndrome, not specified, not provided,
Ataxia-telangiectasia syndrome
Conflicting interpretations of pathogenicity
(Aug 15, 2023)
criteria provided, conflicting interpretations
10.
GRCh37:
Chr11:108155008
GRCh38:
Chr11:108284281
ATMATM-related cancer predisposition syndrome, Breast and/or ovarian cancer, Hereditary cancer-predisposing syndrome,
Familial cancer of breast, Ataxia-telangiectasia syndrome, not provided,
Familial cancer of breast, Ataxia-telangiectasia syndrome
Pathogenic
(Aug 1, 2023)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr11:108137931-108137932
GRCh38:
Chr11:108267204-108267205
ATMV835fsHereditary cancer-predisposing syndrome, not provided, Ataxia-telangiectasia syndrome
Pathogenic
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
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