"Institute of Medical Genetics and Applied Genomics, University Hospit - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 987054	NM_001347721.2(DYRK1A):c.489+2T>A	DYRK1A	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 487250	NM_001347721.2(DYRK1A):c.638-9_638-5del	DYRK1A	Deletion (intron variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 437414	NM_001347721.2(DYRK1A):c.833A>T (p.Asp278Val)	DYRK1A (D287V +2 more)	Single nucleotide variant (missense variant)	DYRK1A-related intellectual disability syndrome +1 more	GPathogenic/Likely pathogenic
Select item 996768	NM_001347721.2(DYRK1A):c.924+2T>A	DYRK1A	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1184904	NM_001347721.2(DYRK1A):c.1112del (p.Pro371fs)	DYRK1A (P342fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 987458	NM_001347721.2(DYRK1A):c.1132C>T (p.Gln378Ter)	DYRK1A (Q349* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1275809	NM_001347721.2(DYRK1A):c.1743dup (p.Val582fs)	DYRK1A (V553fs +2 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic

ClinVar