MSH6

MSH6

mutS homolog 6

HCNC Approved Symbol: MSH6 (HGNC:7329)
Genomic Coordinates: 2:47,783,145 - 47,810,101 (2p16.3)
Synonyms: MSH-6, GTBP
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

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Diagnosed Cases

16Patients

In total, 16 patients were diagnosed with a variant in the MSH6 gene.

Frequently observed phenotypes(Top 5 only)

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

016
Patient count

Intellectual disability: 2 (12.5%)
Patient Count: 2 (12.5%)
% of total patients presenting each phenotype is shown in parentheses.
2 (12.5%)
Breast carcinoma: 2 (12.5%)
Patient Count: 2 (12.5%)
% of total patients presenting each phenotype is shown in parentheses.
2 (12.5%)
Colon cancer: 2 (12.5%)
Patient Count: 2 (12.5%)
% of total patients presenting each phenotype is shown in parentheses.
2 (12.5%)
Genetic anticipation: 2 (12.5%)
Patient Count: 2 (12.5%)
% of total patients presenting each phenotype is shown in parentheses.
2 (12.5%)
Cafe-au-lait spot: 1 (6.3%)
Patient Count: 1 (6.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (6.3%)

Last updated: 2024-06-30