CDCP2[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	ACADM, ACOT11 +570 more	Copy number gain	See cases	GPathogenic
Select item 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	ACOT11, AK4 +422 more	Copy number gain	See cases	GLikely pathogenic
Select item 150647	GRCh38/hg38 1p32.3-31.3(chr1:53627272-64248854)x1	ACOT11, ALG6 +280 more	Copy number loss	See cases	GPathogenic
Select item 59968	GRCh38/hg38 1p32.3-31.3(chr1:53738212-61439648)x1	ACOT11, BSND +205 more	Copy number loss	See cases	GPathogenic
Select item 153752	GRCh38/hg38 1p32.3(chr1:53823735-54328113)x3	CDCP2, CYB5RL +27 more	Copy number gain	See cases	GUncertain significance
Select item 2354912	NM_001353655.3(CDCP2):c.1117+184C>T	CDCP2 (T434M)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2519410	NM_001353655.3(CDCP2):c.1117+180G>A	CDCP2 (R433Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2351538	NM_001353655.3(CDCP2):c.1117+175T>C	CDCP2 (L431P)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 2381970	NM_001353655.3(CDCP2):c.1117+168C>G	CDCP2 (L429V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3265106	NM_001353655.3(CDCP2):c.1117+110G>T	CDCP2 (M409I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2638827	NM_001353655.3(CDCP2):c.1117+107_1117+108insCG	CDCP2 (M409fs)	Insertion (frameshift variant +1 more)	not provided	GLikely benign
Select item 2380025	NM_001353655.3(CDCP2):c.1117+106C>T	CDCP2 (P408L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3265107	NM_001353655.3(CDCP2):c.1117+105C>T	CDCP2 (P408S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3265109	NM_001353655.3(CDCP2):c.1117+10G>A	CDCP2 (G376D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348170	NM_001353655.3(CDCP2):c.1114G>A (p.Gly372Arg)	CDCP2 (G372R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265108	NM_001353655.3(CDCP2):c.1111A>G (p.Ile371Val)	CDCP2 (I371V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492185	NM_001353655.3(CDCP2):c.1094G>A (p.Gly365Asp)	CDCP2 (G365D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141055	NM_001353655.3(CDCP2):c.1085C>T (p.Thr362Ile)	CDCP2 (T362I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141054	NM_001353655.3(CDCP2):c.1076G>A (p.Arg359His)	CDCP2 (R359H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349050	NM_001353655.3(CDCP2):c.979G>A (p.Glu327Lys)	CDCP2 (E327K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141064	NM_001353655.3(CDCP2):c.971G>A (p.Gly324Glu)	CDCP2 (G324E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541830	NM_001353655.3(CDCP2):c.890T>G (p.Val297Gly)	CDCP2 (V297G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514465	NM_001353655.3(CDCP2):c.737G>C (p.Arg246Pro)	CDCP2 (R246P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341864	NM_001353655.3(CDCP2):c.694G>A (p.Glu232Lys)	CDCP2 (E232K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470261	NM_001353655.3(CDCP2):c.679G>A (p.Val227Met)	CDCP2 (V227M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366342	NM_001353655.3(CDCP2):c.667C>G (p.Pro223Ala)	CDCP2 (P223A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274003	NM_001353655.3(CDCP2):c.611C>T (p.Ala204Val)	CDCP2 (A204V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543821	NM_001353655.3(CDCP2):c.572A>T (p.Gln191Leu)	CDCP2 (Q191L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141063	NM_001353655.3(CDCP2):c.557T>A (p.Val186Glu)	CDCP2 (V186E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141062	NM_001353655.3(CDCP2):c.538C>T (p.Pro180Ser)	CDCP2 (P180S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257044	NM_001353655.3(CDCP2):c.535G>C (p.Gly179Arg)	CDCP2 (G179R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141061	NM_001353655.3(CDCP2):c.526C>T (p.Arg176Trp)	CDCP2 (R176W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271966	NM_001353655.3(CDCP2):c.515A>T (p.His172Leu)	CDCP2 (H172L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141060	NM_001353655.3(CDCP2):c.497C>T (p.Pro166Leu)	CDCP2 (P166L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338268	NM_001353655.3(CDCP2):c.490A>T (p.Asn164Tyr)	CDCP2 (N164Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295882	NM_001353655.3(CDCP2):c.461G>T (p.Gly154Val)	CDCP2 (G154V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141059	NM_001353655.3(CDCP2):c.442G>A (p.Val148Ile)	CDCP2 (V148I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390298	NM_001353655.3(CDCP2):c.416G>A (p.Gly139Asp)	CDCP2 (G139D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2331961	NM_001353655.3(CDCP2):c.404G>C (p.Gly135Ala)	CDCP2 (G135A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312593	NM_001353655.3(CDCP2):c.363G>A (p.Met121Ile)	CDCP2 (M121I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249332	NM_001353655.3(CDCP2):c.332C>T (p.Pro111Leu)	CDCP2 (P111L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141058	NM_001353655.3(CDCP2):c.261T>G (p.Phe87Leu)	CDCP2 (F87L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495412	NM_001353655.3(CDCP2):c.254T>G (p.Phe85Cys)	CDCP2 (F85C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465599	NM_001353655.3(CDCP2):c.243C>A (p.Asp81Glu)	CDCP2 (D81E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616217	NM_001353655.3(CDCP2):c.121T>G (p.Phe41Val)	CDCP2 (F41V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463086	NM_001353655.3(CDCP2):c.19G>A (p.Ala7Thr)	CDCP2 (A7T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141057	NM_001353655.3(CDCP2):c.17G>A (p.Gly6Glu)	CDCP2 (G6E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062755	GRCh37/hg19 1p33-32.2(chr1:47493178-57042671)x3	ACOT11, AGBL4 +72 more	Copy number gain	not specified	GLikely pathogenic
Select item 1047872	GRCh37/hg19 1p32.3-32.2(chr1:51941877-56688514)	CYB5RL, EPS15 +49 more	Copy number loss	Abnormality of the kidney +1 more	GPathogenic
Select item 981205	GRCh37/hg19 1p32.3-31.3(chr1:53675707-66644963)x1	ATG4C, MRPL37 +67 more	Copy number loss	Chromosome 1p32-p31 deletion syndrome	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 565098	GRCh37/hg19 1p32.3(chr1:54575439-55381546)x1	MRPL37, TTC22 +10 more	Copy number loss	not provided	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 394094	GRCh37/hg19 1p32.3(chr1:51729573-55164001)x1	LRP8, LRRC42 +42 more	Copy number loss	See cases	GPathogenic

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Items: 56