ClinVar for Gene (Select 221092) - ClinVar

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

Links from Gene

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 3060927	NM_001079559.3(HNRNPUL2):c.240GGA[4] (p.Glu84del)	HNRNPUL2, HNRNPUL2-BSCL2 +1 more (E84del)	Microsatellite (non-coding transcript variant +1 more)	HNRNPUL2-related condition	GLikely benign
Select item 3056946	NM_001079559.3(HNRNPUL2):c.1359+10A>G	HNRNPUL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	HNRNPUL2-related condition	GLikely benign
Select item 3054381	NM_001079559.3(HNRNPUL2):c.539-10G>A	HNRNPUL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	HNRNPUL2-related condition	GLikely benign
Select item 3054109	NM_001079559.3(HNRNPUL2):c.408C>T (p.Ala136=)	HNRNPUL2, HNRNPUL2-BSCL2	Single nucleotide variant (non-coding transcript variant +1 more)	HNRNPUL2-related condition	GLikely benign
Select item 3050756	NM_001079559.3(HNRNPUL2):c.195C>T (p.Ala65=)	HNRNPUL2, HNRNPUL2-BSCL2 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	HNRNPUL2-related condition	GLikely benign
Select item 3048240	NM_001079559.3(HNRNPUL2):c.157C>T (p.Pro53Ser)	HNRNPUL2, HNRNPUL2-BSCL2 +1 more (P53S)	Single nucleotide variant (non-coding transcript variant +1 more)	HNRNPUL2-related condition	GLikely benign
Select item 3041356	NM_001079559.3(HNRNPUL2):c.1319T>C (p.Val440Ala)	HNRNPUL2, HNRNPUL2-BSCL2 (V440A)	Single nucleotide variant (non-coding transcript variant +1 more)	HNRNPUL2-related condition	GLikely benign
Select item 3041079	NM_001079559.3(HNRNPUL2):c.144_164dup (p.Gly55_Ala56insGlyGlyAlaGlyProGlyGly)	HNRNPUL2, HNRNPUL2-BSCL2 +1 more	Duplication (non-coding transcript variant +1 more)	HNRNPUL2-related condition	GLikely benign
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	ACTN3, ACY3 +362 more	Copy number gain	not provided	GPathogenic
Select item 2641896	NM_001079559.3(HNRNPUL2):c.1851A>G (p.Glu617=)	HNRNPUL2-BSCL2, HNRNPUL2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2636190	NM_001079559.3(HNRNPUL2):c.223G>T (p.Glu75Ter)	HNRNPUL2, HNRNPUL2-BSCL2 +1 more (E75*)	Single nucleotide variant (non-coding transcript variant +1 more)	HNRNPUL2-related condition	GLikely pathogenic
Select item 2633278	NM_001079559.3(HNRNPUL2):c.995T>G (p.Phe332Cys)	HNRNPUL2, HNRNPUL2-BSCL2 (F332C)	Single nucleotide variant (non-coding transcript variant +1 more)	HNRNPUL2-related condition	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 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 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 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 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	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 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 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 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 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
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 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 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 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 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 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 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 1710397	NM_001079559.3(HNRNPUL2):c.635G>A (p.Arg212Gln)	HNRNPUL2, HNRNPUL2-BSCL2 (R212Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 690303	NM_001079559.3(HNRNPUL2):c.642C>A (p.Tyr214Ter)	HNRNPUL2, HNRNPUL2-BSCL2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 689150	GRCh37/hg19 11q12.3(chr11:62314663-62788240)x3	B3GAT3, BSCL2 +36 more	Copy number gain	not provided	GUncertain significance
Select item 685584	GRCh37/hg19 11q12.3(chr11:62487052-62788240)x3	CHRM1, HNRNPUL2 +21 more	Copy number gain	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic
Select item 394819	GRCh37/hg19 11q12.3(chr11:61840997-62987330)x1	AHNAK, ASRGL1 +47 more	Copy number loss	See cases	GLikely pathogenic
Select item 149385	GRCh38/hg38 11q12.3(chr11:62249520-62946093)x3	AHNAK, ASRGL1 +110 more	Copy number gain	See cases	GPathogenic
Select item 145432	GRCh38/hg38 11q12.3(chr11:62562836-62840570)x3	B3GAT3, BSCL2 +70 more	Copy number gain	See cases	GUncertain significance
Select item 59755	GRCh38/hg38 11q12.3(chr11:62452571-62862781)x3	AHNAK, B3GAT3 +95 more	Copy number gain	See cases	GPathogenic
Select item 59754	GRCh38/hg38 11q12.3(chr11:62433886-63096003)x3	AHNAK, B3GAT3 +105 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 57