"Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1048090	NM_001353214.3(DYM):c.1728+2T>C	DYM	Single nucleotide variant (splice donor variant)	Dyggve-Melchior-Clausen syndrome	GPathogenic/Likely pathogenic
Select item 1704249	NM_001353214.3(DYM):c.1177_1178del (p.His393fs)	DYM (H202fs +7 more)	Deletion (frameshift variant)	Dyggve-Melchior-Clausen syndrome	GPathogenic
Select item 1679898	NM_001353214.3(DYM):c.445dup (p.Glu149fs)	DYM (E148fs +2 more)	Duplication (frameshift variant +1 more)	Dyggve-Melchior-Clausen syndrome	GPathogenic

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