"Ambry Genetics"[submitter] AND "HNRNPUL2"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2388500	NM_001079559.3(HNRNPUL2):c.2005G>A (p.Asp669Asn)	HNRNPUL2-BSCL2, HNRNPUL2 (D669N)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2311074	NM_001079559.3(HNRNPUL2):c.2005G>T (p.Asp669Tyr)	HNRNPUL2-BSCL2, HNRNPUL2 (D669Y)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2351941	NM_001079559.3(HNRNPUL2):c.1994G>A (p.Arg665His)	HNRNPUL2-BSCL2, HNRNPUL2 (R665H)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2279984	NM_001079559.3(HNRNPUL2):c.1955A>T (p.Gln652Leu)	HNRNPUL2-BSCL2, HNRNPUL2 (Q652L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2544930	NM_001079559.3(HNRNPUL2):c.1804T>C (p.Cys602Arg)	HNRNPUL2-BSCL2, HNRNPUL2 (C602R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2533636	NM_001079559.3(HNRNPUL2):c.1747G>A (p.Asp583Asn)	HNRNPUL2, HNRNPUL2-BSCL2 (D583N)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2324781	NM_001079559.3(HNRNPUL2):c.1572G>C (p.Gln524His)	HNRNPUL2-BSCL2, HNRNPUL2 (Q524H)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2593923	NM_001079559.3(HNRNPUL2):c.1447G>A (p.Val483Ile)	HNRNPUL2, HNRNPUL2-BSCL2 (V483I)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2286989	NM_001079559.3(HNRNPUL2):c.1274C>T (p.Pro425Leu)	HNRNPUL2-BSCL2, HNRNPUL2 (P425L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2240096	NM_001079559.3(HNRNPUL2):c.850A>G (p.Thr284Ala)	HNRNPUL2-BSCL2, HNRNPUL2 (T284A)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2467168	NM_001079559.3(HNRNPUL2):c.467A>G (p.Glu156Gly)	HNRNPUL2, HNRNPUL2-BSCL2 (E156G)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2558134	NM_001079559.3(HNRNPUL2):c.410G>A (p.Gly137Glu)	HNRNPUL2, HNRNPUL2-BSCL2 (G137E)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2345002	NM_001079559.3(HNRNPUL2):c.385G>A (p.Glu129Lys)	HNRNPUL2, HNRNPUL2-BSCL2 (E129K)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2400003	NM_001079559.3(HNRNPUL2):c.343G>A (p.Glu115Lys)	HNRNPUL2, HNRNPUL2-BSCL2 (E115K)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2312611	NM_001079559.3(HNRNPUL2):c.233A>G (p.Asp78Gly)	HNRNPUL2, HNRNPUL2-BSCL2 +1 more (D78G)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2370372	NM_001079559.3(HNRNPUL2):c.212C>T (p.Pro71Leu)	HNRNPUL2, HNRNPUL2-BSCL2 +1 more (P71L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2345092	NM_001079559.3(HNRNPUL2):c.182C>G (p.Pro61Arg)	HNRNPUL2, HNRNPUL2-BSCL2 +1 more (P61R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance