C5568143[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2441081	NM_001347721.2(DYRK1A):c.196C>G (p.Leu66Val)	DYRK1A (L37V +1 more)	Single nucleotide variant (missense variant)	DYRK1A-related intellectual disability syndrome	GUncertain significance
Select item 218379	NM_001347721.2(DYRK1A):c.208-28G>A	DYRK1A	Single nucleotide variant (splice acceptor variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 833538	NM_001347721.2(DYRK1A):c.300+3A>G	DYRK1A	Single nucleotide variant (intron variant)	DYRK1A-related intellectual disability syndrome	GConflicting classifications of pathogenicity
Select item 210895	NM_001347721.2(DYRK1A):c.300+7C>T	DYRK1A	Single nucleotide variant (intron variant)	DYRK1A-related intellectual disability syndrome +1 more	GConflicting classifications of pathogenicity
Select item 162153	NM_001347721.2(DYRK1A):c.586C>T (p.Arg196Ter)	DYRK1A (R205* +2 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 1005968	NM_001347721.2(DYRK1A):c.1004T>C (p.Met335Thr)	DYRK1A (M306T +2 more)	Single nucleotide variant (missense variant)	DYRK1A-related intellectual disability syndrome	GUncertain significance
Select item 2441083	NM_001347721.2(DYRK1A):c.1071+1_1071+2dup	DYRK1A	Duplication (splice donor variant)	DYRK1A-related intellectual disability syndrome	GUncertain significance
Select item 2441084	NM_001347721.2(DYRK1A):c.1325A>G (p.Lys442Arg)	DYRK1A (K413R +2 more)	Single nucleotide variant (missense variant)	DYRK1A-related intellectual disability syndrome	GUncertain significance
Select item 2688989	NM_001347721.2(DYRK1A):c.1352T>C (p.Leu451Pro)	DYRK1A (L422P +2 more)	Single nucleotide variant (missense variant)	DYRK1A-related intellectual disability syndrome	GUncertain significance
Select item 2441082	NM_001347721.2(DYRK1A):c.1493C>T (p.Thr498Ile)	DYRK1A (T469I +2 more)	Single nucleotide variant (missense variant)	DYRK1A-related intellectual disability syndrome	GUncertain significance
Select item 1029335	NM_001347721.2(DYRK1A):c.1714A>G (p.Thr572Ala)	DYRK1A (T581A +2 more)	Single nucleotide variant (missense variant +1 more)	DYRK1A-related intellectual disability syndrome	GUncertain significance
Select item 2441085	NM_001347721.2(DYRK1A):c.2018A>G (p.Asn673Ser)	DYRK1A (N644S +2 more)	Single nucleotide variant (missense variant +1 more)	DYRK1A-related intellectual disability syndrome	GUncertain significance