HNRNPCL2[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 148885	GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	LOC129929327, LOC129929328 +557 more	Copy number loss	See cases	GPathogenic
Select item 154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	AADACL3, AADACL4 +563 more	Copy number gain	See cases	GPathogenic
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 152293	GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1	AADACL3, AADACL4 +370 more	Copy number loss	See cases	GPathogenic
Select item 1707471	NC_000001.11:g.10115497_16283149dup	LOC110120623, LOC110120648 +361 more	Duplication	not specified	GLikely pathogenic
Select item 152937	GRCh38/hg38 1p36.22-36.21(chr1:10264397-15780840)x1	AADACL3, AADACL4 +304 more	Copy number loss	See cases	GPathogenic
Select item 59892	GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1	AADACL3, AADACL4 +337 more	Copy number loss	See cases	GPathogenic
Select item 59894	GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1	LOC112577504, LOC112577505 +316 more	Copy number loss	See cases	GPathogenic
Select item 153434	GRCh38/hg38 1p36.22-36.21(chr1:11021751-15236671)x3	AADACL3, AADACL4 +209 more	Copy number gain	See cases	GLikely pathogenic
Select item 59895	GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)x1	AADACL3, AADACL4 +288 more	Copy number loss	See cases	GPathogenic
Select item 153514	GRCh38/hg38 1p36.22-36.21(chr1:12264268-13119398)x3	AADACL3, AADACL4 +34 more	Copy number gain	See cases	GUncertain significance
Select item 148967	GRCh38/hg38 1p36.21(chr1:12627415-13993978)x3	AADACL3, AADACL4 +49 more	Copy number gain	See cases	GLikely pathogenic
Select item 147067	GRCh38/hg38 1p36.21(chr1:12666714-13181499)x3	AADACL3, AADACL4 +21 more	Copy number gain	See cases	GBenign
Select item 148652	GRCh38/hg38 1p36.21-36.13(chr1:12724785-16034788)x1	AADACL3, AGMAT +151 more	Copy number loss	See cases	GPathogenic
Select item 150407	GRCh38/hg38 1p36.21(chr1:12852720-13330100)x1	HNRNPCL2, HNRNPCL3 +17 more	Copy number loss	See cases	GLikely benign
Select item 2478365	NM_001136561.3(HNRNPCL2):c.773A>T (p.Asp258Val)	HNRNPCL2 (D258V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368543	NM_001136561.3(HNRNPCL2):c.766G>A (p.Asp256Asn)	HNRNPCL2 (D256N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599957	NM_001136561.3(HNRNPCL2):c.761T>A (p.Leu254Gln)	HNRNPCL2 (L254Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332711	NM_001136561.3(HNRNPCL2):c.737A>G (p.Asp246Gly)	HNRNPCL2 (D246G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2324139	NM_001136561.3(HNRNPCL2):c.724G>C (p.Gly242Arg)	HNRNPCL2 (G242R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284558	NM_001136561.3(HNRNPCL2):c.696T>A (p.Asp232Glu)	HNRNPCL2 (D232E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284556	NM_001136561.3(HNRNPCL2):c.664G>A (p.Glu222Lys)	HNRNPCL2 (E222K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205045	NM_001136561.3(HNRNPCL2):c.658T>A (p.Ser220Thr)	HNRNPCL2 (S220T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284557	NM_001136561.3(HNRNPCL2):c.581T>A (p.Val194Glu)	HNRNPCL2 (V194E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284560	NM_001136561.3(HNRNPCL2):c.485C>A (p.Ser162Tyr)	HNRNPCL2 (S162Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284555	NM_001136561.3(HNRNPCL2):c.406A>C (p.Ile136Leu)	HNRNPCL2 (I136L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106394	NM_001136561.3(HNRNPCL2):c.349C>T (p.Arg117Trp)	HNRNPCL2 (R117W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279499	NM_001136561.3(HNRNPCL2):c.338A>G (p.Tyr113Cys)	HNRNPCL2 (Y113C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261420	NM_001136561.3(HNRNPCL2):c.328G>T (p.Asp110Tyr)	HNRNPCL2 (D110Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106393	NM_001136561.3(HNRNPCL2):c.322T>C (p.Ser108Pro)	HNRNPCL2 (S108P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520775	NM_001136561.3(HNRNPCL2):c.320C>T (p.Ser107Phe)	HNRNPCL2 (S107F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524305	NM_001136561.3(HNRNPCL2):c.286G>C (p.Gly96Arg)	HNRNPCL2 (G96R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324312	NM_001136561.3(HNRNPCL2):c.229A>G (p.Ser77Gly)	HNRNPCL2 (S77G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2258138	NM_001136561.3(HNRNPCL2):c.193G>A (p.Ala65Thr)	HNRNPCL2 (A65T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569636	NM_001136561.3(HNRNPCL2):c.175A>G (p.Lys59Glu)	HNRNPCL2 (K59E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284559	NM_001136561.3(HNRNPCL2):c.36C>G (p.His12Gln)	HNRNPCL2 (H12Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1808934	GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1	AADACL3, AADACL4 +143 more	Copy number loss	not provided	GPathogenic
Select item 1340028	GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	AJAP1, KAZN +228 more	Copy number loss	not provided	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 443150	GRCh37/hg19 1p36.22-36.21(chr1:10722725-14267773)x1	AADACL3, AADACL4 +53 more	Copy number loss	See cases	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442266	GRCh37/hg19 1p36.22-36.21(chr1:11143298-13709344)x3	AADACL3, AADACL4 +43 more	Copy number gain	See cases	GUncertain significance
Select item 441913	GRCh37/hg19 1p36.23-36.13(chr1:8850514-16272383)x1	AADACL3, AADACL4 +97 more	Copy number loss	See cases	GLikely pathogenic
Select item 395144	GRCh37/hg19 1p36.32-36.21(chr1:4558588-13187457)x1	AADACL3, AADACL4 +96 more	Copy number loss	See cases	GPathogenic
Select item 395059	GRCh37/hg19 1p36.22-36.21(chr1:12357424-13187457)x3	AADACL3, AADACL4 +14 more	Copy number gain	See cases	GLikely benign
Select item 253459	GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1	CCNL2, CDK11A +188 more	Copy number loss	See cases	GPathogenic
Select item 221357	chr1:909238-16736132 complex variant	RER1, RERE +212 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	IGSF21, IL22RA1 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 54