CPLANE2[gene] - ClinVar

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Items: 58

	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 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 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 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 59895	GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)x1	AADACL3, AADACL4 +288 more	Copy number loss	See cases	GPathogenic
Select item 58056	GRCh38/hg38 1p36.21-36.13(chr1:13619979-18466172)x3	LOC129929515, LOC129929516 +211 more	Copy number gain	See cases	GPathogenic
Select item 146292	GRCh38/hg38 1p36.21-36.13(chr1:15052047-16499873)x1	AGMAT, ARHGEF19 +112 more	Copy number loss	See cases	GLikely pathogenic
Select item 57443	GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1	ACTL8, AGMAT +303 more	Copy number loss	See cases	GPathogenic
Select item 149010	GRCh38/hg38 1p36.21-36.13(chr1:15681812-19662339)x1	LOC126805640, LOC126805641 +206 more	Copy number loss	See cases	GPathogenic
Select item 3076714	NM_030907.4(CPLANE2):c.726C>G (p.Asp242Glu)	CPLANE2 (D242E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522267	NM_030907.4(CPLANE2):c.679G>A (p.Val227Ile)	CPLANE2 (V227I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2541559	NM_030907.4(CPLANE2):c.668G>A (p.Gly223Glu)	CPLANE2 (G223E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269185	NM_030907.4(CPLANE2):c.661C>T (p.Arg221Trp)	CPLANE2 (R221W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076712	NM_030907.4(CPLANE2):c.646C>T (p.Arg216Cys)	CPLANE2 (R216C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076711	NM_030907.4(CPLANE2):c.646C>A (p.Arg216Ser)	CPLANE2 (R216S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076710	NM_030907.4(CPLANE2):c.632G>A (p.Arg211Gln)	CPLANE2 (R211Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515298	NM_030907.4(CPLANE2):c.608G>A (p.Arg203Gln)	CPLANE2 (R203Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269183	NM_030907.4(CPLANE2):c.607C>T (p.Arg203Trp)	CPLANE2 (R203W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076709	NM_030907.4(CPLANE2):c.589T>C (p.Trp197Arg)	CPLANE2 (W197R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076708	NM_030907.4(CPLANE2):c.563G>A (p.Arg188Gln)	CPLANE2 (R188Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076707	NM_030907.4(CPLANE2):c.553G>A (p.Val185Met)	CPLANE2 (V185M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076706	NM_030907.4(CPLANE2):c.548C>T (p.Thr183Met)	CPLANE2 (T183M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076705	NM_030907.4(CPLANE2):c.511A>T (p.Met171Leu)	CPLANE2 (M171L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269186	NM_030907.4(CPLANE2):c.479G>A (p.Arg160His)	CPLANE2 (R160H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076703	NM_030907.4(CPLANE2):c.478C>T (p.Arg160Cys)	CPLANE2 (R160C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513424	NM_030907.4(CPLANE2):c.442C>T (p.Arg148Cys)	CPLANE2 (R148C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619415	NM_030907.4(CPLANE2):c.404A>G (p.Asn135Ser)	CPLANE2 (N135S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076701	NM_030907.4(CPLANE2):c.376G>T (p.Asp126Tyr)	CPLANE2 (D126Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076700	NM_030907.4(CPLANE2):c.376G>A (p.Asp126Asn)	CPLANE2 (D126N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076699	NM_030907.4(CPLANE2):c.331C>T (p.Arg111Cys)	CPLANE2 (R111C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076698	NM_030907.4(CPLANE2):c.317G>A (p.Arg106His)	CPLANE2 (R106H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457777	NM_030907.4(CPLANE2):c.316C>T (p.Arg106Cys)	CPLANE2 (R106C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269184	NM_030907.4(CPLANE2):c.280G>A (p.Val94Met)	CPLANE2 (V94M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619144	NM_030907.4(CPLANE2):c.278C>T (p.Thr93Ile)	CPLANE2 (T93I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460632	NM_030907.4(CPLANE2):c.221A>C (p.Lys74Thr)	CPLANE2 (K74T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539759	NM_030907.4(CPLANE2):c.206C>T (p.Thr69Met)	CPLANE2 (T69M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269187	NM_030907.4(CPLANE2):c.200G>T (p.Gly67Val)	CPLANE2 (G67V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076696	NM_030907.4(CPLANE2):c.193G>A (p.Gly65Ser)	CPLANE2 (G65S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603477	NM_030907.4(CPLANE2):c.151A>C (p.Ile51Leu)	CPLANE2 (I51L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076695	NM_030907.4(CPLANE2):c.125G>A (p.Arg42Gln)	CPLANE2 (R42Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076704	NM_030907.4(CPLANE2):c.48C>A (p.His16Gln)	CPLANE2 (H16Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076702	NM_030907.4(CPLANE2):c.38C>A (p.Pro13Gln)	CPLANE2 (P13Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076697	NM_030907.4(CPLANE2):c.23G>A (p.Gly8Asp)	CPLANE2 (G8D)	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 3062822	GRCh37/hg19 1p36.21-36.12(chr1:16194137-20561434)x1	ACTL8, AKR7A2 +58 more	Copy number loss	not specified	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 980392	GRCh37/hg19 1p36.21-36.12(chr1:16041431-21295864)x1	EMC1, EPHA2 +73 more	Copy number loss	not provided	GPathogenic
Select item 686997	GRCh37/hg19 1p36.21-36.13(chr1:16096742-16725355)x1	ARHGEF19, CLCNKA +12 more	Copy number loss	not provided	GUncertain significance
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 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 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: 58