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Items: 2

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr2:238269781
GRCh38:
Chr2:237361138
COL6A3G2065R, G1458R, G1859Rnot provided, Bethlem myopathy 1Pathogenic/Likely pathogenic
(Jan 10, 2018)
criteria provided, multiple submitters, no conflictsVCV000284796
2.
GRCh37:
Chr2:238269781
GRCh38:
Chr2:237361138
COL6A3G2065S, G1458S, G1859Snot providedLikely pathogenic
(Sep 7, 2017)
criteria provided, multiple submitters, no conflictsVCV000056907
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