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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYOT, PKD2L2-DT
(S55F)
Single nucleotide variant
(missense variant +1 more)
Progressive distal muscle weakness
+11 more
GPathogenic/Likely pathogenic
MYOT, PKD2L2-DT
(S60F)
Single nucleotide variant
(missense variant +1 more)
MYOT-related disorder
+2 more
GPathogenic/Likely pathogenic