CDKN2A[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 390474	NM_000077.5(CDKN2A):c.*8A>T	CDKN2A	Single nucleotide variant (3 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 385300	NM_000077.5(CDKN2A):c.*8A>G	CDKN2A	Single nucleotide variant (3 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 3256484	NM_000077.5(CDKN2A):c.*7C>A	CDKN2A	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
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)	Hereditary cancer-predisposing syndrome +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)	Familial melanoma +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)	Familial melanoma +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)	Familial melanoma +1 more	GLikely benign
Select item 463508	NM_000077.5(CDKN2A):c.465C>T (p.Pro155=)	CDKN2A	Single nucleotide variant (synonymous variant +1 more)	Familial melanoma +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)	Familial melanoma +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)	Familial melanoma +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 provided +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)	Familial melanoma +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)	not provided +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)	Melanoma, cutaneous malignant, susceptibility to, 2 +4 more	GPathogenic/Likely pathogenic
Select item 3357435	NM_000077.5(CDKN2A):c.458-107C>G	CDKN2A	Single nucleotide variant (intron variant)	CDKN2A-related disorder	GLikely benign
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)	Melanoma-pancreatic cancer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 133881	NM_000077.5(CDKN2A):c.458-492G>C	CDKN2A (R165S)	Single nucleotide variant (missense variant +1 more)	Melanoma-pancreatic cancer syndrome	GLikely benign
Select item 3349350	NM_000077.5(CDKN2A):c.458-493G>C	CDKN2A (R165T)	Single nucleotide variant (missense variant +1 more)	CDKN2A-related disorder	GUncertain significance
Select item 3061049	NM_000077.5(CDKN2A):c.458-514A>G	CDKN2A (H158R)	Single nucleotide variant (missense variant +1 more)	CDKN2A-related disorder	GUncertain significance
Select item 1801528	NM_000077.5(CDKN2A):c.458-521G>T	CDKN2A (G156*)	Single nucleotide variant (nonsense +1 more)	Gastric cancer	GPathogenic
Select item 802458	NM_000077.5(CDKN2A):c.458-525G>T	CDKN2A (M154I)	Single nucleotide variant (missense variant +1 more)	Melanoma-pancreatic cancer syndrome	GLikely benign
Select item 371902	NM_000077.5(CDKN2A):c.458-541A>G	CDKN2A	Single nucleotide variant (intron variant)	Melanoma-pancreatic cancer syndrome	GLikely benign
Select item 802459	NM_000077.5(CDKN2A):c.457+1129C>T	CDKN2A	Single nucleotide variant (intron variant)	Melanoma-pancreatic cancer syndrome	GLikely benign
Select item 224565	NM_000077.5(CDKN2A):c.457+929C>T	CDKN2A	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1207329	NM_000077.5(CDKN2A):c.457+227A>G	CDKN2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 802460	NM_000077.5(CDKN2A):c.457+83C>T	CDKN2A	Single nucleotide variant (intron variant)	Melanoma-pancreatic cancer syndrome	GLikely benign
Select item 3256485	NM_000077.5(CDKN2A):c.457+42C>G	CDKN2A	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 802461	NM_000077.5(CDKN2A):c.457+30C>T	CDKN2A	Single nucleotide variant (intron variant)	Melanoma-pancreatic cancer syndrome	GLikely benign
Select item 1563311	NM_000077.5(CDKN2A):c.457+20G>T	CDKN2A	Single nucleotide variant (intron variant)	Familial melanoma	GLikely benign
Select item 2865752	NM_000077.5(CDKN2A):c.457+17del	CDKN2A	Deletion (intron variant)	Familial melanoma	GLikely benign
Select item 1627586	NM_000077.5(CDKN2A):c.457+16C>A	CDKN2A	Single nucleotide variant (intron variant)	Familial melanoma	GLikely benign
Select item 491577	NM_000077.5(CDKN2A):c.457+15T>G	CDKN2A	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2801852	NM_000077.5(CDKN2A):c.457+14A>T	CDKN2A	Single nucleotide variant (intron variant)	Familial melanoma	GLikely benign
Select item 2818317	NM_000077.5(CDKN2A):c.457+13G>A	CDKN2A	Single nucleotide variant (intron variant)	Familial melanoma	GLikely benign
Select item 628254	NM_000077.5(CDKN2A):c.457+12T>C	CDKN2A	Single nucleotide variant (intron variant)	Familial melanoma +1 more	GLikely benign
Select item 382700	NM_000077.5(CDKN2A):c.457+11A>G	CDKN2A	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1088739	NM_000077.5(CDKN2A):c.457+10G>A	CDKN2A	Single nucleotide variant (intron variant)	Familial melanoma	GLikely benign
Select item 825010	NM_000077.5(CDKN2A):c.457+1_457+10del	CDKN2A	Deletion (splice donor variant)	Familial melanoma +3 more	GConflicting classifications of pathogenicity
Select item 3265578	NM_000077.5(CDKN2A):c.457+5_457+7delinsTGT	CDKN2A	Indel (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1741571	NM_000077.5(CDKN2A):c.457+5G>T	CDKN2A	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1741570	NM_000077.5(CDKN2A):c.457+5G>C	CDKN2A	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1741568	NM_000077.5(CDKN2A):c.457+3G>T	CDKN2A	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 801144	NM_000077.5(CDKN2A):c.457+3G>A	CDKN2A	Single nucleotide variant (intron variant)	Familial melanoma +2 more	GUncertain significance
Select item 1510258	NM_000077.5(CDKN2A):c.457+2T>G	CDKN2A	Single nucleotide variant (splice donor variant)	Familial melanoma	GUncertain significance
Select item 635366	NM_000077.5(CDKN2A):c.457+2T>C	CDKN2A	Single nucleotide variant (splice donor variant)	not provided	Gnot provided
Select item 635368	NM_000077.5(CDKN2A):c.457+1G>A	CDKN2A	Single nucleotide variant (splice donor variant)	not provided +1 more	Gnot provided OLikely oncogenic
Select item 635367	NM_000077.5(CDKN2A):c.457+1G>T	CDKN2A	Single nucleotide variant (splice donor variant)	Familial melanoma	GUncertain significance
Select item 1741633	NM_000077.5(CDKN2A):c.457G>C (p.Asp153His)	CDKN2A (D153H +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 532292	NM_000077.5(CDKN2A):c.457G>A (p.Asp153Asn)	CDKN2A (D153N +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 216035	NM_000077.5(CDKN2A):c.457G>T (p.Asp153Tyr)	CDKN2A (D153Y +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 1373052	NM_000077.5(CDKN2A):c.456A>G (p.Ser152=)	CDKN2A	Single nucleotide variant (synonymous variant +1 more)	Familial melanoma	GUncertain significance
Select item 3230259	NM_000077.5(CDKN2A):c.455C>G (p.Ser152Ter)	CDKN2A (S101* +1 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2763323	NM_000077.5(CDKN2A):c.455del (p.Pro151_Ser152insTer)	CDKN2A	Deletion (nonsense +1 more)	Familial melanoma	GUncertain significance
Select item 630384	NM_000077.5(CDKN2A):c.455C>T (p.Ser152Leu)	CDKN2A (S152L +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1741329	NM_000077.5(CDKN2A):c.453C>T (p.Pro151=)	CDKN2A	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1741323	NM_000077.5(CDKN2A):c.453C>G (p.Pro151=)	CDKN2A	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign

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