CDKN2B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	ACER2, ACO1 +1005 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	LOC132089671, LOC132089672 +1213 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	HRCT1, IFNA1 +1061 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	ABHD17B, ACER2 +1119 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	ACER2, ACO1 +882 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LINC03026, LINC03041 +1366 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153184	GRCh38/hg38 9p24.3-21.1(chr9:203861-31423873)x4	ACER2, ADAMTSL1 +484 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150819	GRCh38/hg38 9p24.3-21.2(chr9:204104-27963369)x3	ACER2, ADAMTSL1 +458 more	Copy number gain	See cases	GPathogenic
Select item 150341	GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	LOC130001672, LOC130001673 +983 more	Copy number gain	See cases	GPathogenic
Select item 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	DMAC1, DMRT1 +898 more	Copy number gain	See cases	GPathogenic
Select item 150116	GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3	LOC126860601, LOC126860602 +581 more	Copy number gain	See cases	GPathogenic
Select item 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	ACER2, ACO1 +979 more	Copy number gain	See cases	GPathogenic
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	LINC03041, LINC03106 +898 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC110120726, LOC110120727 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59839	GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3	ACER2, ACO1 +538 more	Copy number gain	See cases	GPathogenic
Select item 59836	GRCh38/hg38 9p24.3-21.3(chr9:204193-22086858)x3	LOC124210616, LOC124225047 +410 more	Copy number gain	See cases	GPathogenic
Select item 57406	GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	LOC126860576, LOC126860577 +897 more	Copy number gain	See cases	GPathogenic
Select item 32288	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	LOC130001469, LOC130001470 +898 more	Copy number gain	See cases	GPathogenic
Select item 59876	GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3	ACER2, ACO1 +893 more	Copy number gain	See cases	GPathogenic
Select item 144555	GRCh38/hg38 9p24.3-21.1(chr9:220257-29424848)x3	ACER2, ADAMTSL1 +461 more	Copy number gain	See cases	GPathogenic
Select item 149484	GRCh38/hg38 9p24.3-21.3(chr9:459131-24207894)x3	ACER2, ADAMTSL1 +412 more	Copy number gain	See cases	GPathogenic
Select item 147501	GRCh38/hg38 9p24.1-21.2(chr9:4661872-27661572)x3	ACER2, ADAMTSL1 +355 more	Copy number gain	See cases	GPathogenic
Select item 148673	GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3	ERVFRD-3, FAM219A +585 more	Copy number gain	See cases	GPathogenic
Select item 59878	GRCh38/hg38 9p23-21.1(chr9:9543538-30266463)x3	ACER2, ADAMTSL1 +243 more	Copy number gain	See cases	GPathogenic
Select item 151755	GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015)	ACER2, ACO1 +690 more	Copy number gain	See cases	GPathogenic
Select item 151162	GRCh38/hg38 9p22.1-21.1(chr9:19564275-28106622)x1	C9orf72, CAAP1 +136 more	Copy number loss	See cases	GPathogenic
Select item 545378	Single allele	CDKN2A, CDKN2A-AS1 +78 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 57361	GRCh38/hg38 9p21.3(chr9:21708372-22537070)x3	CDKN2A, CDKN2A-AS1 +28 more	Copy number gain	See cases	GUncertain significance
Select item 523164	GRCh38/hg38 9p21.3(chr9:21879075-22096084)x0	CDKN2A, CDKN2A-AS1 +17 more	Copy number loss	Vascular endothelial growth factor (VEGF) inhibitor response	Gdrug response
Select item 523167	GRCh38/hg38 9p21.3(chr9:21939409-22706614)x0	LOC114022702, LOC126860595 +21 more	Copy number loss	Vascular endothelial growth factor (VEGF) inhibitor response	Gdrug response
Select item 59105	GRCh38/hg38 9p21.3(chr9:21985058-22809677)x1	LOC128772339, LOC130001606 +13 more	Copy number loss	See cases	GPathogenic
Select item 2664475	NM_004936.4(CDKN2B):c.*2763G>T	CDKN2B, CDKN2B-AS1	Single nucleotide variant (3 prime UTR variant)	Malignant tumor of breast	GLikely pathogenic
Select item 812647	NM_004936.4(CDKN2B):c.*2763G>A	CDKN2B, CDKN2B-AS1	Single nucleotide variant (3 prime UTR variant)	Three Vessel Coronary Disease	GBenign
Select item 812639	NM_004936.4(CDKN2B):c.*2619C>T	CDKN2B, CDKN2B-AS1	Single nucleotide variant (3 prime UTR variant)	Malignant tumor of breast +1 more	GLikely pathogenic; protective
Select item 2664474	NM_004936.4(CDKN2B):c.*1346dup	CDKN2B, CDKN2B-AS1	Duplication (3 prime UTR variant)	Malignant tumor of breast	GLikely pathogenic
Select item 2664473	NM_004936.4(CDKN2B):c.845_846insCA	CDKN2B, CDKN2B-AS1	Insertion (3 prime UTR variant)	Malignant tumor of breast	GLikely pathogenic
Select item 2664472	NM_004936.4(CDKN2B):c.845_846insCACA	CDKN2B, CDKN2B-AS1	Insertion (3 prime UTR variant)	Malignant tumor of breast	GLikely pathogenic
Select item 812643	NM_004936.4(CDKN2B):c.*656A>C	CDKN2B, CDKN2B-AS1	Single nucleotide variant (3 prime UTR variant)	Three Vessel Coronary Disease	GUncertain significance
Select item 1697453	NM_004936.4(CDKN2B):c.*43C>G	CDKN2B, CDKN2B-AS1	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 2659130	NM_004936.4(CDKN2B):c.408G>C (p.Thr136=)	CDKN2B, CDKN2B-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1802775	NM_004936.4(CDKN2B):c.401C>G (p.Thr134Arg)	CDKN2B, CDKN2B-AS1 (T134R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3141668	NM_004936.4(CDKN2B):c.386C>G (p.Ala129Gly)	CDKN2B, CDKN2B-AS1 (A129G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293989	NM_004936.4(CDKN2B):c.367C>T (p.Arg123Trp)	CDKN2B, CDKN2B-AS1 (R123W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 790615	NM_004936.4(CDKN2B):c.360C>T (p.Ala120=)	CDKN2B, CDKN2B-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3141667	NM_004936.4(CDKN2B):c.353A>C (p.Asp118Ala)	CDKN2B, CDKN2B-AS1 (D118A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2692147	NM_004936.4(CDKN2B):c.325_351del (p.Arg109_Val117del)	CDKN2B, CDKN2B-AS1	Deletion (inframe deletion +1 more)	not specified	GUncertain significance
Select item 2576498	NM_004936.4(CDKN2B):c.343C>T (p.Leu115=)	CDKN2B, CDKN2B-AS1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 426555	NM_004936.4(CDKN2B):c.256G>A (p.Asp86Asn)	CDKN2B, CDKN2B-AS1 (D86N)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1802776	NM_004936.4(CDKN2B):c.252G>C (p.Val84=)	CDKN2B, CDKN2B-AS1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2570618	NM_004936.4(CDKN2B):c.209_210del (p.Ala70fs)	CDKN2B, CDKN2B-AS1 (A70fs)	Microsatellite (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1279271	NM_004936.4(CDKN2B):c.157-27C>A	CDKN2B, CDKN2B-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 812646	NM_004936.4(CDKN2B):c.157-102G>A	CDKN2B, CDKN2B-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233062	NM_004936.4(CDKN2B):c.156+293T>A	CDKN2B, CDKN2B-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2576499	NM_004936.4(CDKN2B):c.156+22C>T	CDKN2B, CDKN2B-AS1 +1 more (R60C)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1697454	NM_004936.4(CDKN2B):c.156+18G>T	LOC130001608, CDKN2B +1 more	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 753382	NM_004936.4(CDKN2B):c.156+10G>A	CDKN2B, CDKN2B-AS1 +1 more (A56T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2576500	NM_004936.4(CDKN2B):c.155A>G (p.Gln52Arg)	CDKN2B, CDKN2B-AS1 +1 more (Q52R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321061	NM_004936.4(CDKN2B):c.149C>T (p.Ala50Val)	CDKN2B, CDKN2B-AS1 +1 more (A50V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580263	NM_004936.4(CDKN2B):c.131A>G (p.Asn44Ser)	CDKN2B, CDKN2B-AS1 +1 more (N44S)	Single nucleotide variant (missense variant)	Acute lymphoid leukemia	GUncertain significance
Select item 2205664	NM_004936.4(CDKN2B):c.122A>G (p.Asn41Ser)	CDKN2B-AS1, CDKN2B +1 more (N41S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659131	NM_004936.4(CDKN2B):c.121A>G (p.Asn41Asp)	CDKN2B, CDKN2B-AS1 +1 more (N41D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576501	NM_004936.4(CDKN2B):c.71G>A (p.Arg24Gln)	CDKN2B, CDKN2B-AS1 (R24Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2566423	NM_004936.4(CDKN2B):c.48G>C (p.Glu16Asp)	CDKN2B, CDKN2B-AS1 (E16D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401282	NM_004936.4(CDKN2B):c.34G>A (p.Gly12Ser)	CDKN2B, CDKN2B-AS1 (G12S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2576502	NM_004936.4(CDKN2B):c.29G>T (p.Ser10Ile)	CDKN2B, CDKN2B-AS1 (S10I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1697455	NM_004936.4(CDKN2B):c.-4C>T	CDKN2B, CDKN2B-AS1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1220605	NC_000009.12:g.22009338G>T	CDKN2B, CDKN2B-AS1	Single nucleotide variant	not provided	GBenign
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 2684569	GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3	ACER2, ACO1 +188 more	Copy number gain	not provided	GPathogenic
Select item 2422312	NC_000009.11:g.(?_21974667)_(22160087_?)dup	CDKN2A, CDKN2B +1 more	Duplication	Familial melanoma	GUncertain significance
Select item 1808181	GRCh37/hg19 9p21.3(chr9:20659492-22347440)x3	CDKN2A, CDKN2B +22 more	Copy number gain	not provided	GUncertain significance
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ANKS6, ANP32B +596 more	Copy number gain	See cases	GPathogenic
Select item 1707628	GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3	FOXD4, PLGRKT +199 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1704647	GRCh37/hg19 9p24.3-13.3(chr9:203861-35903398)x3	ACER2, ACO1 +169 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ABCA1, ABHD17B +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1703576	GRCh37/hg19 9p24.3-q13(chr9:203861-68342786)	ACER2, ACO1 +204 more	Copy number gain	Bradycardia	GPathogenic
Select item 1703570	GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)	ACER2, ACO1 +204 more	Copy number gain	Tetrasomy 9p	GPathogenic
Select item 1527516	GRCh37/hg19 9p21.3-21.1(chr9:22003967-30712948)	C9orf72, CAAP1 +13 more	Copy number loss	not specified	GUncertain significance
Select item 1527514	GRCh37/hg19 9p21.3(chr9:21902071-22015434)	CDKN2A, CDKN2B +1 more	Copy number loss	not specified	GPathogenic
Select item 1527513	GRCh37/hg19 9p21.3(chr9:21608134-22490685)	CDKN2A, CDKN2B +3 more	Copy number gain	not specified	GUncertain significance
Select item 1527495	GRCh37/hg19 9p24.3-13.3(chr9:676264-33743670)	RIGI, RLN1 +114 more	Copy number gain	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 1527488	GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399)	CDKN2B-AS1, ABHD17B +257 more	Copy number gain	not specified	GPathogenic
Select item 1527487	GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)	ACO1, IFNA8 +205 more	Copy number gain	not specified	GPathogenic
Select item 1441665	NC_000009.11:g.(?_21970891)_(22062134_?)dup	CDKN2A, CDKN2B +1 more	Duplication	Familial melanoma	GUncertain significance
Select item 1430740	NC_000009.11:g.(?_21994128)_(22160087_?)dup	CDKN2A, CDKN2B +1 more	Duplication	Familial melanoma	GUncertain significance
Select item 1070481	NC_000009.11:g.(?_21968228)_(22160087_?)del	CDKN2B-AS1, CDKN2A +1 more	Deletion	Familial melanoma	GPathogenic
Select item 1014424	NC_000009.11:g.(?_21968228)_(22160087_?)dup	CDKN2A, CDKN2B +1 more	Duplication	Familial melanoma	GUncertain significance
Select item 980351	GRCh37/hg19 9p21.3(chr9:21391297-23423892)x3	CDKN2A, CDKN2B +7 more	Copy number gain	not provided	GUncertain significance
Select item 815249	GRCh37/hg19 9p21.3(chr9:21936290-22082568)x3	CDKN2A, CDKN2B +1 more	Copy number gain	not provided	GUncertain significance
Select item 815245	GRCh37/hg19 9p21.3(chr9:20829681-22069144)x3	CDKN2A, CDKN2B +22 more	Copy number gain	not provided	GUncertain significance
Select item 815190	GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3	JAK2, KANK1 +213 more	Copy number gain	not provided	GPathogenic

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