A: The variant NC_000020.11:g.2332019C>T in gene TGM3 is classified as 'Pathogenic' for Uncombable_hair_syndrome_2. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014989,MedGen:C4310649,OMIM:617251. Review status: no assertion criteria provided.