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Items: 4

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr2:227945181
GRCh38:
Chr2:227080465
COL4A4E594Gnot specified, Alport syndrome, Alport syndrome, autosomal recessive
Benign/Likely benign
(Feb 5, 2015)
criteria provided, multiple submitters, no conflictsVCV000218426
2.
GRCh37:
Chr3:81586084
GRCh38:
Chr3:81536933
GBE1Y594CGlycogen storage disease, type IV, Glycogen storage disease IV, classic hepaticUncertain significance
(Nov 29, 2017)
criteria provided, single submitterVCV000526616
3.
GRCh37:
Chr7:140453154
GRCh38:
Chr7:140753354
BRAFD594GCutaneous melanoma, Neoplasm of brain, Malignant melanoma of skin,
Non-small cell lung cancer, Lung adenocarcinoma, Squamous cell carcinoma of the head and neck,
Adrenocortical carcinoma, Neoplasm of the large intestine, Chronic lymphocytic leukemia,
Multiple myeloma, Non-Hodgkin lymphomaTransitional cell carcinoma of the bladder,
...see more
Pathogenic
(Jun 11, 2012)
criteria provided, single submitterVCV000013972
4.
GRCh37:
Chr11:72005070
GRCh38:
Chr11:72294026
CLPBH594R, H624Rnot providedUncertain significance
(Sep 25, 2018)
criteria provided, single submitterVCV000633545
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