CDKN2A[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 417813	NC_000009.12:g.(?_21967752)_(21975133_?)del	CDKN2A, CDKN2A-AS1 +2 more	Deletion	Familial melanoma	GPathogenic
Select item 1181894	NM_000077.5(CDKN2A):c.*373C>G	CDKN2A	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1182993	NM_000077.5(CDKN2A):c.*223G>T	CDKN2A	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1227284	NM_000077.5(CDKN2A):c.*69C>T	CDKN2A	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 873162	NM_000077.5(CDKN2A):c.*29G>C	CDKN2A	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 926621	NM_000077.5(CDKN2A):c.*13G>A	CDKN2A	Single nucleotide variant (3 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 627660	NM_000077.5(CDKN2A):c.*13G>C	CDKN2A	Single nucleotide variant (3 prime UTR variant)	Hereditary cancer-predisposing syndrome	GConflicting classifications of pathogenicity
Select item 1742103	NM_000077.5(CDKN2A):c.464_*10del (p.Pro155_Ter157delinsXaa)	CDKN2A	Deletion (stop lost +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 584107	NC_000009.11:g.(?_21968218)_(21994340_?)dup	CDKN2A, LOC130001603 +2 more	Duplication	Familial melanoma	GUncertain significance
Select item 583687	NC_000009.12:g.(?_21968219)_(21994341_?)del	LOC130001605, CDKN2A +2 more	Deletion	Familial melanoma	GPathogenic
Select item 628620	NM_000077.5(CDKN2A):c.*9G>A	CDKN2A	Single nucleotide variant (3 prime UTR variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 216271	NM_000077.5(CDKN2A):c.*9G>T	CDKN2A	Single nucleotide variant (3 prime UTR variant)	CDKN2A-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 390474	NM_000077.5(CDKN2A):c.*8A>T	CDKN2A	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 385300	NM_000077.5(CDKN2A):c.*8A>G	CDKN2A	Single nucleotide variant (3 prime UTR variant)	CDKN2A-related disorder +2 more	GLikely benign
Select item 532305	NC_000009.11:g.(?_21968222)_(21994330_?)dup	CDKN2A, LOC130001603 +2 more	Duplication	Familial melanoma	GUncertain significance
Select item 387035	NM_000077.5(CDKN2A):c.*6C>G	CDKN2A	Single nucleotide variant (3 prime UTR variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 1332047	NM_000077.5(CDKN2A):c.*2dup (p.Ter157=)	CDKN2A	Duplication (no sequence alteration +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 919302	NM_000077.5(CDKN2A):c.*3G>A	CDKN2A	Single nucleotide variant (3 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 825120	NM_000077.5(CDKN2A):c.471A>C (p.Ter157Cys)	CDKN2A	Single nucleotide variant (stop lost +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2084175	NM_000077.5(CDKN2A):c.470G>T (p.Ter157Leu)	CDKN2A	Single nucleotide variant (stop lost +1 more)	Familial melanoma	GUncertain significance
Select item 1132894	NM_000077.5(CDKN2A):c.470G>A (p.Ter157=)	CDKN2A	Single nucleotide variant (synonymous variant +1 more)	Familial melanoma	GLikely benign
Select item 215633	NM_000077.5(CDKN2A):c.468T>C (p.Asp156=)	CDKN2A	Single nucleotide variant (synonymous variant +1 more)	Familial melanoma +2 more	GLikely benign
Select item 1742377	NM_000077.5(CDKN2A):c.467A>T (p.Asp156Val)	CDKN2A (D156V +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1171898	NM_000077.5(CDKN2A):c.466G>T (p.Asp156Tyr)	CDKN2A (D105Y +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 629192	NM_000077.5(CDKN2A):c.466G>A (p.Asp156Asn)	CDKN2A (D156N +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1742236	NM_000077.5(CDKN2A):c.465del (p.Asp156fs)	CDKN2A (D105fs +1 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1156353	NM_000077.5(CDKN2A):c.465C>A (p.Pro155=)	CDKN2A	Single nucleotide variant (synonymous variant +1 more)	Familial melanoma	GLikely benign
Select item 825077	NM_000077.5(CDKN2A):c.465C>G (p.Pro155=)	CDKN2A	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 463508	NM_000077.5(CDKN2A):c.465C>T (p.Pro155=)	CDKN2A	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 859084	NM_000077.5(CDKN2A):c.464C>G (p.Pro155Arg)	CDKN2A (P155R +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 406720	NM_000077.5(CDKN2A):c.463C>G (p.Pro155Ala)	CDKN2A (P155A +1 more)	Single nucleotide variant (missense variant +1 more)	Familial melanoma	GUncertain significance
Select item 1528240	NM_000077.5(CDKN2A):c.462C>T (p.Ile154=)	CDKN2A	Single nucleotide variant (synonymous variant +1 more)	Familial melanoma	GLikely benign
Select item 463507	NM_000077.5(CDKN2A):c.462C>A (p.Ile154=)	CDKN2A	Single nucleotide variant (synonymous variant +1 more)	Familial melanoma +2 more	GLikely benign
Select item 491579	NM_000077.5(CDKN2A):c.461T>A (p.Ile154Asn)	CDKN2A (I154N +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1494170	NM_000077.5(CDKN2A):c.460del (p.Ile154fs)	CDKN2A (I103fs +1 more)	Deletion (frameshift variant +1 more)	Familial melanoma	GUncertain significance
Select item 236990	NM_000077.5(CDKN2A):c.459C>T (p.Asp153=)	CDKN2A	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 939445	NM_000077.5(CDKN2A):c.458A>G (p.Asp153Gly)	CDKN2A (D153G +1 more)	Single nucleotide variant (missense variant +1 more)	Familial melanoma	GUncertain significance
Select item 406721	NM_000077.5(CDKN2A):c.458A>T (p.Asp153Val)	CDKN2A (D153V +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1174483	NM_000077.5(CDKN2A):c.458-1G>A	CDKN2A	Single nucleotide variant (splice acceptor variant)	not provided	Gnot provided
Select item 642189	NM_000077.5(CDKN2A):c.458-2A>G	CDKN2A	Single nucleotide variant (splice acceptor variant)	Familial melanoma	GUncertain significance
Select item 2039689	NM_000077.5(CDKN2A):c.458-3C>A	CDKN2A	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1741656	NM_000077.5(CDKN2A):c.458-3C>T	CDKN2A	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 926024	NM_000077.5(CDKN2A):c.458-4G>T	CDKN2A	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 233602	NM_000077.5(CDKN2A):c.458-4G>C	CDKN2A	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2857565	NM_000077.5(CDKN2A):c.458-9_458-6dup	CDKN2A	Duplication (intron variant)	Familial melanoma	GLikely benign
Select item 2067033	NM_000077.5(CDKN2A):c.458-5T>C	CDKN2A	Single nucleotide variant (intron variant)	Familial melanoma	GLikely benign
Select item 1138677	NM_000077.5(CDKN2A):c.458-8del	CDKN2A	Deletion (intron variant)	Familial melanoma	GLikely benign
Select item 495537	NM_000077.5(CDKN2A):c.458-9_458-8delinsT	CDKN2A	Indel (intron variant)	not provided	GUncertain significance
Select item 463506	NM_000077.5(CDKN2A):c.458-9C>T	CDKN2A	Single nucleotide variant (intron variant)	Familial melanoma	GLikely benign
Select item 1665968	NM_000077.5(CDKN2A):c.458-10C>T	CDKN2A	Single nucleotide variant (intron variant)	Familial melanoma	GLikely benign
Select item 513191	NM_000077.5(CDKN2A):c.458-10C>G	CDKN2A	Single nucleotide variant (intron variant)	Familial melanoma +2 more	GLikely benign
Select item 1627091	NM_000077.5(CDKN2A):c.458-12T>C	CDKN2A	Single nucleotide variant (intron variant)	Familial melanoma	GLikely benign
Select item 1565041	NM_000077.5(CDKN2A):c.458-12T>G	CDKN2A	Single nucleotide variant (intron variant)	Familial melanoma	GLikely benign
Select item 2762089	NM_000077.5(CDKN2A):c.458-14T>G	CDKN2A	Single nucleotide variant (intron variant)	Familial melanoma	GUncertain significance
Select item 491578	NM_000077.5(CDKN2A):c.458-15T>A	CDKN2A	Single nucleotide variant (intron variant)	Familial melanoma +2 more	GLikely benign
Select item 923207	NM_000077.5(CDKN2A):c.458-17C>T	CDKN2A	Single nucleotide variant (intron variant)	Familial melanoma +1 more	GLikely benign
Select item 560767	NM_000077.5(CDKN2A):c.458-56G>T	CDKN2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2775051	NM_000077.5(CDKN2A):c.458-104T>G	CDKN2A	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 406715	NM_000077.5(CDKN2A):c.458-105A>G	CDKN2A	Single nucleotide variant (intron variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 371928	NM_000077.5(CDKN2A):c.458-465G>C	CDKN2A	Single nucleotide variant (3 prime UTR variant +1 more)	Melanoma-pancreatic cancer syndrome	GLikely benign
Select item 1291087	NM_000077.5(CDKN2A):c.458-471G>T	CDKN2A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 133880	NM_000077.5(CDKN2A):c.458-491C>T	CDKN2A (H166Y)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity

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