"New York Genome Center"[submitter] AND "HNRNPK"[gene] - ClinVar

Format

Sort by

Choose Destination

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1342443	NM_031263.4(HNRNPK):c.1359C>G (p.Asn453Lys)	HNRNPK (N429K +1 more)	Single nucleotide variant (missense variant)	Au-Kline syndrome	GUncertain significance
Select item 2584625	NM_031263.4(HNRNPK):c.1191+2T>G	HNRNPK	Single nucleotide variant (splice donor variant)	Au-Kline syndrome	GLikely pathogenic
Select item 1342637	NM_031263.4(HNRNPK):c.1183C>T (p.Pro395Ser)	HNRNPK (P371S +1 more)	Single nucleotide variant (missense variant)	Au-Kline syndrome	GUncertain significance

Format

Sort by

Choose Destination

ClinVar