"Hacettepe Pediatric Genetics Laboratory, Hacettepe University"[submit - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2574635	NM_001353214.3(DYM):c.1626-14_1626-4del	DYM	Deletion (intron variant)	Dyggve-Melchior-Clausen syndrome	GUncertain significance
Select item 2574625	NM_001353214.3(DYM):c.1125+1G>A	DYM	Single nucleotide variant (splice donor variant)	Dyggve-Melchior-Clausen syndrome	GLikely pathogenic
Select item 2574672	NM_001353214.3(DYM):c.916C>T (p.Gln306Ter)	DYM (Q115* +6 more)	Single nucleotide variant (nonsense +1 more)	Dyggve-Melchior-Clausen syndrome	GLikely pathogenic

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