New variants

The following new likely pathogenic or pathogenic variants in RYR1 have been added:

  • c.1589G>A    p.(Arg530His)

  • c.5132A>G    p.(Tyr1711Cys)

  • c.6488G>T    p.(Arg2163Leu)

  • c.6838G>A    p.(Val2280Ile)

  • c.8638G>A    p.(Glu2880Lys)

  • c.11416G>A   p.(Gly3806Arg)

  • c.14813T>C   p.(Ile4938Thr)

Variant c.14582G>A   p.(Arg4861His) has been downgraded from pathogenic to likely pathogenic