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Items: 3

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr7:124464069-124464070
GRCh38:
Chr7:124824015-124824016
POT1D486fs, D617fsGlioma susceptibility 9, Melanoma, cutaneous malignant, susceptibility to, 10, Hereditary cancer-predisposing syndrome
Conflicting interpretations of pathogenicity
(Oct 29, 2020)
criteria provided, conflicting interpretationsVCV000209095
2.
GRCh37:
Chr7:124481048
GRCh38:
Chr7:124840994
POT1E450*, E319*Glioma susceptibility 9risk factor
(Dec 7, 2014)
no assertion criteria providedVCV000209094
3.
GRCh37:
Chr7:124464052
GRCh38:
Chr7:124823998
POT1Q623H, Q492HMelanoma, cutaneous malignant, susceptibility to, 10risk factor
(May 1, 2014)
no assertion criteria providedVCV000139526
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