S I D E B A R
Format
Sort by

Download:

Choose Destination

Search results

Items: 2

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr1:109466820
GRCh38:
Chr1:108924198
GPSM2I600NNonsyndromic Hearing Loss, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000291708
2.
GRCh37:
Chr7:140453136
GRCh38:
Chr7:140753336
BRAFV600ENeoplasm of the large intestine, Germ cell tumor, nonseminomatous, Gastrointestinal stroma tumor,
Lung adenocarcinoma, Carcinoma of colon, Squamous cell carcinoma of the head and neck,
Brainstem glioma, Cystic epithelial invagination containing papillae lined by columnar epithelium, Neoplasm of the colon,
Papillary renal cell carcinoma, sporadic, Ovarian NeoplasmsNeoplasm,
Cardio-facio-cutaneous syndrome, Glioblastoma, Cutaneous melanoma,
Neoplasm of brain, not provided, Multiple myeloma,
Papillary thyroid carcinoma, Malignant melanoma of skin, Lung cancer,
Non-small cell lung cancer, Astrocytoma, low-grade, somatic, ...see more
Pathogenic
(May 29, 2009)
criteria provided, single submitterVCV000013961
Support Center