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Items: 3

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr12:32945631
GRCh38:
Chr12:32792697
PKP2V842Inot specified, not provided, Arrhythmogenic right ventricular cardiomyopathy, type 9,
Cardiovascular phenotype
Conflicting interpretations of pathogenicity
(Sep 21, 2015)
criteria provided, conflicting interpretationsVCV000201959
2.
GRCh37:
Chr17:37881332
GRCh38:
Chr17:39725079
ERBB2V812I, V827I, V842IUterine Carcinosarcoma, Malignant neoplasm of body of uterus, Neoplasm of the large intestine,
Pancreatic adenocarcinoma, Neoplasm of the breast, Carcinoma of gallbladder,
Adenocarcinoma of stomach
Pathogenic/Likely pathogenic
(May 31, 2016)
no assertion criteria providedVCV000375994
3.
GRCh37:
Chr17:44115921
GRCh38:
Chr17:46038555
KANSL1V842Inot specifiedLikely benign
(Sep 17, 2015)
criteria provided, single submitterVCV000380631
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