"Ambry Genetics"[submitter] AND "HNRNPK"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2237961	NM_031263.4(HNRNPK):c.1092+1G>A	HNRNPK	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GLikely pathogenic
Select item 3106412	NM_031263.4(HNRNPK):c.1021G>A (p.Ala341Thr)	HNRNPK (A341T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3106411	NM_031263.4(HNRNPK):c.1000G>A (p.Asp334Asn)	HNRNPK (D310N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985759	NM_031263.4(HNRNPK):c.875del (p.Pro292fs)	HNRNPK (P268fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 503603	NM_031263.4(HNRNPK):c.859C>T (p.Arg287Ter)	HNRNPK (R287* +1 more)	Single nucleotide variant (nonsense)	Au-Kline syndrome +1 more	GPathogenic
Select item 986250	NM_031263.4(HNRNPK):c.676_678del (p.Asp226del)	HNRNPK-AS1, HNRNPK (D202del +1 more)	Deletion (inframe_deletion)	Inborn genetic diseases	GLikely pathogenic
Select item 2446578	NM_031263.4(HNRNPK):c.584T>C (p.Ile195Thr)	HNRNPK, HNRNPK-AS1 (I171T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3106414	NM_031263.4(HNRNPK):c.516+2dup	HNRNPK, HNRNPK-AS1	Duplication (splice donor variant)	Inborn genetic diseases	GUncertain significance
Select item 452520	NM_031263.4(HNRNPK):c.253G>A (p.Glu85Lys)	HNRNPK, HNRNPK-AS1 (E85K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 421187	NM_031263.4(HNRNPK):c.248G>A (p.Gly83Asp)	HNRNPK, HNRNPK-AS1 (G83D)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 3106413	NM_031263.4(HNRNPK):c.213+1G>A	HNRNPK	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GUncertain significance
Select item 2608342	NM_031263.4(HNRNPK):c.139A>G (p.Ile47Val)	HNRNPK (I47V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2314058	NM_031263.4(HNRNPK):c.67C>T (p.Pro23Ser)	HNRNPK (P23S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 520659	NM_031263.4(HNRNPK):c.65G>A (p.Arg22His)	HNRNPK (R22H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic