A: The variant NC_000019.10:g.49202109C>G in gene TRPM4 is classified as 'Pathogenic' for Erythrokeratodermia_variabilis_et_progressiva_6. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0032801,MedGen:C5193144,OMIM:618531. Review status: no assertion criteria provided.