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 +1006 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA1, ADGRD2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	FAM95B1, FAM95C +1214 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC129390066, LOC129390067 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860762, LOC126860763 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	LOC124292579, LOC124292580 +3786 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	LOC130001496, LOC130001497 +1062 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	ABHD17B, ACER2 +1120 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	DENND4C, DIPK1B +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA2, ACER2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	ACER2, ACO1 +883 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	ABHD17B, ACER2 +1367 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC130001660, LOC130001661 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153184	GRCh38/hg38 9p24.3-21.1(chr9:203861-31423873)x4	LOC130001517, LOC130001518 +484 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LOC126860587, LOC126860588 +3786 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	ACER2, ACO1 +984 more	Copy number gain	See cases	GPathogenic
Select item 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	ACER2, ACO1 +899 more	Copy number gain	See cases	GPathogenic
Select item 150116	GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3	ACER2, ACO1 +582 more	Copy number gain	See cases	GPathogenic
Select item 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	SPATA31A5, SPATA31A6 +980 more	Copy number gain	See cases	GPathogenic
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	LINC01235, LINC01239 +899 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59839	GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3	ACER2, ACO1 +539 more	Copy number gain	See cases	GPathogenic
Select item 59836	GRCh38/hg38 9p24.3-21.3(chr9:204193-22086858)x3	LOC130001520, LOC130001521 +410 more	Copy number gain	See cases	GPathogenic
Select item 57406	GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	ACER2, ACO1 +898 more	Copy number gain	See cases	GPathogenic
Select item 32288	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	LOC130001820, LOC130001821 +899 more	Copy number gain	See cases	GPathogenic
Select item 59876	GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3	LOC130001624, LOC130001625 +894 more	Copy number gain	See cases	GPathogenic
Select item 144555	GRCh38/hg38 9p24.3-21.1(chr9:220257-29424848)x3	SLC1A1, SLC24A2 +461 more	Copy number gain	See cases	GPathogenic
Select item 149484	GRCh38/hg38 9p24.3-21.3(chr9:459131-24207894)x3	CDKN2B, CDKN2B-AS1 +412 more	Copy number gain	See cases	GPathogenic
Select item 147501	GRCh38/hg38 9p24.1-21.2(chr9:4661872-27661572)x3	LOC126860594, LOC126860595 +355 more	Copy number gain	See cases	GPathogenic
Select item 148673	GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3	ACER2, ACO1 +586 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)	SLC24A2, SLC25A51 +691 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	NC_000009.12:g.22003224C>T	CDKN2B, CDKN2B-AS1	Single nucleotide variant (3 prime UTR variant)	not provided	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 +2 more	GLikely pathogenic; protective OBenign
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	NC_000009.12:g.22005331T>G	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 3256486	NM_004936.4(CDKN2B):c.*29C>A	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 3265585	NM_004936.4(CDKN2B):c.176C>T (p.Ala59Val)	CDKN2B, CDKN2B-AS1 (A59V)	Single nucleotide variant (missense variant +1 more)	not specified	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 3256487	NM_004936.4(CDKN2B):c.156+9G>A	CDKN2B, CDKN2B-AS1 +1 more	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3256488	NM_004936.4(CDKN2B):c.156+3_156+6del	CDKN2B, CDKN2B-AS1 +1 more (A54fs)	Deletion (frameshift variant +1 more)	not specified	GLikely benign
Select item 3256489	NM_004936.4(CDKN2B):c.155A>C (p.Gln52Pro)	CDKN2B, CDKN2B-AS1 +1 more (Q52P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3245365	NC_000009.11:g.(?_21333005)_(22160087_?)dup	IFNA6, IFNA8 +10 more	Duplication	not provided	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 2684569	GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3	CREB3, STOML2 +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	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1707628	GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3	ACER2, ACO1 +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)	ATOSB, ATP6V1G1 +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)	ACER2, ACO1 +114 more	Copy number gain	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1527488	GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399)	SPATA31A5, SPATA31A6 +257 more	Copy number gain	not specified	GPathogenic
Select item 1527487	GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)	ACER2, ACO1 +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

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