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

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

Search results

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3106458	NM_001079559.3(HNRNPUL2):c.2195A>C (p.Asp732Ala)	HNRNPUL2, HNRNPUL2-BSCL2 (D732A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3106457	NM_001079559.3(HNRNPUL2):c.2186A>C (p.His729Pro)	HNRNPUL2, HNRNPUL2-BSCL2 (H729P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3106456	NM_001079559.3(HNRNPUL2):c.2156A>G (p.Asn719Ser)	HNRNPUL2, HNRNPUL2-BSCL2 (N719S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3284590	NM_001079559.3(HNRNPUL2):c.2063G>A (p.Arg688His)	HNRNPUL2, HNRNPUL2-BSCL2 (R688H)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2388500	NM_001079559.3(HNRNPUL2):c.2005G>A (p.Asp669Asn)	HNRNPUL2, HNRNPUL2-BSCL2 (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, HNRNPUL2-BSCL2 (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, HNRNPUL2-BSCL2 (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, HNRNPUL2-BSCL2 (Q652L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3106454	NM_001079559.3(HNRNPUL2):c.1859C>T (p.Pro620Leu)	HNRNPUL2, HNRNPUL2-BSCL2 (P620L)	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, HNRNPUL2-BSCL2 (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 3284595	NM_001079559.3(HNRNPUL2):c.1707G>C (p.Trp569Cys)	HNRNPUL2, HNRNPUL2-BSCL2 (W569C)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3284593	NM_001079559.3(HNRNPUL2):c.1611+3A>G	HNRNPUL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2324781	NM_001079559.3(HNRNPUL2):c.1572G>C (p.Gln524His)	HNRNPUL2, HNRNPUL2-BSCL2 (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 3106452	NM_001079559.3(HNRNPUL2):c.1432G>A (p.Glu478Lys)	HNRNPUL2, HNRNPUL2-BSCL2 (E478K)	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, HNRNPUL2-BSCL2 (P425L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3106451	NM_001079559.3(HNRNPUL2):c.1190G>A (p.Arg397Gln)	HNRNPUL2, HNRNPUL2-BSCL2 (R397Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3106463	NM_001079559.3(HNRNPUL2):c.970C>T (p.Arg324Cys)	HNRNPUL2, HNRNPUL2-BSCL2 (R324C)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3106462	NM_001079559.3(HNRNPUL2):c.874G>A (p.Val292Ile)	HNRNPUL2, HNRNPUL2-BSCL2 (V292I)	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, HNRNPUL2-BSCL2 (T284A)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3106461	NM_001079559.3(HNRNPUL2):c.615T>A (p.Asp205Glu)	HNRNPUL2, HNRNPUL2-BSCL2 (D205E)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3284591	NM_001079559.3(HNRNPUL2):c.500G>A (p.Gly167Glu)	HNRNPUL2, HNRNPUL2-BSCL2 (G167E)	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 3106460	NM_001079559.3(HNRNPUL2):c.340C>T (p.Pro114Ser)	HNRNPUL2, HNRNPUL2-BSCL2 (P114S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3284594	NM_001079559.3(HNRNPUL2):c.317C>T (p.Ala106Val)	HNRNPUL2, HNRNPUL2-BSCL2 (A106V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3106459	NM_001079559.3(HNRNPUL2):c.263C>T (p.Ala88Val)	HNRNPUL2, HNRNPUL2-BSCL2 (A88V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3284592	NM_001079559.3(HNRNPUL2):c.258G>T (p.Glu86Asp)	HNRNPUL2, HNRNPUL2-BSCL2 +1 more (E86D)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3284597	NM_001079559.3(HNRNPUL2):c.253G>A (p.Asp85Asn)	HNRNPUL2, HNRNPUL2-BSCL2 +1 more (D85N)	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 3284596	NM_001079559.3(HNRNPUL2):c.223G>C (p.Glu75Gln)	HNRNPUL2, HNRNPUL2-BSCL2 +1 more (E75Q)	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 3106455	NM_001079559.3(HNRNPUL2):c.188C>T (p.Pro63Leu)	HNRNPUL2, HNRNPUL2-BSCL2 +1 more (P63L)	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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 37