C4225274[trait identifier] AND "Clinical Genetics Research Group, Univ - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 503604	NM_002140.4(HNRNPK):c.1094delG	HNRNPK	Deletion	Au-Kline syndrome	GPathogenic
Select item 503602	NM_002140.4(HNRNPK):c.1009delG	HNRNPK	Deletion	Au-Kline syndrome	GPathogenic
Select item 449308	NM_031263.4(HNRNPK):c.1008+1G>A	HNRNPK	Single nucleotide variant (splice donor variant)	Au-Kline syndrome +1 more	GPathogenic
Select item 503601	NM_031263.4(HNRNPK):c.998dup (p.Tyr333Ter)	HNRNPK (Y309* +1 more)	Duplication (nonsense)	Au-Kline syndrome	GPathogenic
Select item 212775	NM_031263.4(HNRNPK):c.953+1dup	HNRNPK	Duplication (splice donor variant)	Au-Kline syndrome	GPathogenic
Select item 503603	NM_031263.4(HNRNPK):c.859C>T (p.Arg287Ter)	HNRNPK (R287* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic
Select item 280639	NM_031263.4(HNRNPK):c.779dup (p.Phe261_Asp262insTer)	HNRNPK	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 212776	NM_031263.4(HNRNPK):c.257G>A (p.Arg86His)	HNRNPK, HNRNPK-AS1 (R86H)	Single nucleotide variant (missense variant)	Au-Kline syndrome	GPathogenic/Likely pathogenic

ClinVar