PCSK2[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	ABHD12, ACSS1 +833 more	Copy number gain	See cases	GPathogenic
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	SPEF1, SPTLC3 +571 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	LOC105372493, LOC105372524 +579 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	LOC126863004, LOC126863005 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	ADAM33, ADISSP +581 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC130065574, LOC130065575 +950 more	Copy number gain	See cases	GPathogenic
Select item 148986	GRCh38/hg38 20p12.1(chr20:16704727-17303136)x3	LOC126862981, LOC130065446 +6 more	Copy number gain	See cases	GUncertain significance
Select item 148072	GRCh38/hg38 20p12.1(chr20:16721087-17300554)x3	LOC126862981, LOC130065446 +5 more	Copy number gain	See cases	GUncertain significance
Select item 3210441	NM_002594.5(PCSK2):c.46C>T (p.Leu16Phe)	PCSK2 (L16F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2534427	NM_002594.5(PCSK2):c.132C>A (p.Asp44Glu)	PCSK2 (D44E +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2621136	NM_002594.5(PCSK2):c.154G>A (p.Glu52Lys)	PCSK2 (E52K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476542	NM_002594.5(PCSK2):c.167G>A (p.Gly56Glu)	PCSK2 (G56E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210438	NM_002594.5(PCSK2):c.188C>T (p.Ala63Val)	PCSK2 (A63V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210439	NM_002594.5(PCSK2):c.238A>G (p.Arg80Gly)	PCSK2 (R61G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377068	NM_002594.5(PCSK2):c.242G>A (p.Arg81His)	PCSK2 (R62H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210440	NM_002594.5(PCSK2):c.250C>T (p.His84Tyr)	PCSK2 (H65Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280528	NM_002594.5(PCSK2):c.252C>A (p.His84Gln)	PCSK2 (H65Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488973	NM_002594.5(PCSK2):c.397A>T (p.Ile133Phe)	PCSK2 (I114F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311581	NM_002594.5(PCSK2):c.586C>G (p.Pro196Ala)	PCSK2 (P177A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210442	NM_002594.5(PCSK2):c.694A>C (p.Asn232His)	PCSK2 (N213H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210443	NM_002594.5(PCSK2):c.863C>T (p.Ala288Val)	PCSK2 (A253V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298298	NM_002594.5(PCSK2):c.1384G>A (p.Val462Met)	PCSK2 (V427M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457523	NM_002594.5(PCSK2):c.1426C>T (p.Pro476Ser)	PCSK2 (P476S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777519	NM_002594.5(PCSK2):c.1430+11del	PCSK2	Deletion (intron variant)	not provided	GBenign
Select item 714814	NM_002594.5(PCSK2):c.1677G>A (p.Thr559=)	PCSK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2510336	NM_002594.5(PCSK2):c.1838T>C (p.Met613Thr)	PCSK2 (M594T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068498	NC_000020.10:g.16400000_24400000del	BANF2, BFSP1 +49 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	SEC23B, SEL1L2 +164 more	Copy number gain	not provided	GPathogenic
Select item 2423954	NC_000020.10:g.(?_17462209)_(17511974_?)dup	BFSP1, PCSK2	Duplication	Cataract 33	GUncertain significance
Select item 1808835	GRCh37/hg19 20p12.1(chr20:17458552-17587385)x1	BFSP1, DSTN +1 more	Copy number loss	not provided	GUncertain significance
Select item 1328443	GRCh37/hg19 20p12.2-11.23(chr20:11702911-19179706)x3	BANF2, BFSP1 +28 more	Copy number gain	not provided	GUncertain significance
Select item 816114	GRCh37/hg19 20p12.3-11.22(chr20:8571696-22088650)x1	KIF16B, SLC24A3 +49 more	Copy number loss	not provided	GPathogenic
Select item 816102	GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3	ABHD12, ACSS1 +177 more	Copy number gain	not provided	GPathogenic
Select item 687956	GRCh37/hg19 20p12.1(chr20:16688627-17288943)x3	OTOR, PCSK2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 625735	GRCh37/hg19 20p12.2-11.23(chr20:11716825-19331055)	BANF2, BFSP1 +29 more	Copy number gain	not provided	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	DZANK1, E2F1 +540 more	Copy number gain	See cases	GPathogenic
Select item 424642	GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3	CST1, NAPB +178 more	Copy number gain	not provided	GPathogenic
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic
Select item 219047	GRCh37/hg19 20p12.1(chr20:16730002-17286002)x3	OTOR, PCSK2	Copy number gain	See cases	GUncertain significance

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Items: 43