ClinVar for MedGen (Select 325450) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3597240	NM_000077.5(CDKN2A):c.150+44T>C	CDKN2A (L65P)	Single nucleotide variant (missense variant +1 more)	Melanoma and neural system tumor syndrome +2 more	GUncertain significance
Select item 3597239	NM_000077.5(CDKN2A):c.150+70T>A	CDKN2A (L74M)	Single nucleotide variant (missense variant +1 more)	Melanoma and neural system tumor syndrome +2 more	GUncertain significance
Select item 2573287	NM_000077.5(CDKN2A):c.150+1G>A	CDKN2A (V51M)	Single nucleotide variant (missense variant +2 more)	Melanoma-pancreatic cancer syndrome	GLikely pathogenic
Select item 2573282	NM_058195.4(CDKN2A):c.194-3652G>A	CDKN2A, LOC130001603	Single nucleotide variant (intron variant)	Melanoma-pancreatic cancer syndrome	GUncertain significance
Select item 2573238	NM_058195.4(CDKN2A):c.106del (p.Ala36fs)	CDKN2A (A36fs)	Deletion (frameshift variant +1 more)	Melanoma-pancreatic cancer syndrome	GPathogenic
Select item 2573227	NM_000077.5(CDKN2A):c.150+1255C>T	CDKN2A	Single nucleotide variant (intron variant)	Melanoma-pancreatic cancer syndrome	GBenign
Select item 2431281	NM_000077.5(CDKN2A):c.165C>T (p.Gly55=)	CDKN2A (Q70*)	Single nucleotide variant (synonymous variant +2 more)	Melanoma-pancreatic cancer syndrome	GPathogenic
Select item 1069074	NM_000077.5(CDKN2A):c.126dup (p.Ser43Ter)	CDKN2A (S43*)	Duplication (nonsense +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 1012195	NM_000077.5(CDKN2A):c.281T>A (p.Leu94Gln)	CDKN2A (L43Q +1 more)	Single nucleotide variant (missense variant +2 more)	Melanoma-pancreatic cancer syndrome	GLikely pathogenic
Select item 995892	NM_000077.5(CDKN2A):c.285_288dup (p.Leu97fs)	CDKN2A (A111fs +2 more)	Duplication (frameshift variant +1 more)	Melanoma-pancreatic cancer syndrome	GLikely pathogenic
Select item 856797	NM_058195.4(CDKN2A):c.46G>A (p.Gly16Ser)	CDKN2A (G16S)	Single nucleotide variant (missense variant +2 more)	Melanoma and neural system tumor syndrome +3 more	GUncertain significance
Select item 821690	NM_000077.5(CDKN2A):c.26T>G (p.Met9Arg)	CDKN2A (M9R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 802475	NM_058195.4(CDKN2A):c.194-3854_194-3853insGTG	CDKN2A	Insertion (intron variant)	Melanoma-pancreatic cancer syndrome	GLikely benign
Select item 802474	NM_058195.4(CDKN2A):c.194-3853_194-3852insGCG	CDKN2A	Insertion (intron variant)	Melanoma-pancreatic cancer syndrome	GLikely benign
Select item 802473	NM_058195.4(CDKN2A):c.194-3834C>G	CDKN2A	Single nucleotide variant (intron variant)	Melanoma-pancreatic cancer syndrome	GLikely benign
Select item 802472	NM_000077.5(CDKN2A):c.150+11G>A	CDKN2A (G54E)	Single nucleotide variant (missense variant +1 more)	Familial melanoma +1 more	GLikely benign
Select item 802471	NM_000077.5(CDKN2A):c.150+137T>G	CDKN2A (V96G)	Single nucleotide variant (missense variant +1 more)	Melanoma-pancreatic cancer syndrome	GLikely benign
Select item 802470	NM_000077.5(CDKN2A):c.150+280C>T	CDKN2A	Single nucleotide variant (intron variant)	Melanoma-pancreatic cancer syndrome +1 more	GLikely benign
Select item 802469	NM_000077.5(CDKN2A):c.151-66A>G	CDKN2A	Single nucleotide variant (intron variant)	Melanoma-pancreatic cancer syndrome	GLikely benign
Select item 802464	NM_000077.5(CDKN2A):c.220G>C (p.Asp74His)	CDKN2A (D23H +2 more)	Single nucleotide variant (missense variant +1 more)	Melanoma-pancreatic cancer syndrome	GUncertain significance
Select item 802463	NM_000077.5(CDKN2A):c.221A>C (p.Asp74Ala)	CDKN2A (D23A +1 more)	Single nucleotide variant (missense variant +2 more)	Melanoma-pancreatic cancer syndrome	GUncertain significance
Select item 802462	NM_000077.5(CDKN2A):c.333C>T (p.Gly111=)	CDKN2A (P126S)	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
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 802460	NM_000077.5(CDKN2A):c.457+83C>T	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 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 635365	NM_000077.5(CDKN2A):c.151-1G>A	CDKN2A	Single nucleotide variant (splice acceptor variant)	Melanoma-pancreatic cancer syndrome +1 more	GPathogenic
Select item 630615	NM_058195.4(CDKN2A):c.194-3646_194-3624del	CDKN2A, LOC130001603	Deletion (intron variant +1 more)	not provided +4 more	GUncertain significance
Select item 630548	NM_000077.5(CDKN2A):c.236C>T (p.Thr79Ile)	CDKN2A (T79I +1 more)	Single nucleotide variant (missense variant +2 more)	Familial melanoma +5 more	GUncertain significance
Select item 619828	NM_000077.5(CDKN2A):c.262G>C (p.Glu88Gln)	CDKN2A (E88Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GUncertain significance
Select item 584734	NM_000077.5(CDKN2A):c.32C>T (p.Pro11Leu)	CDKN2A (P11L)	Single nucleotide variant (missense variant +1 more)	Melanoma-pancreatic cancer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 584731	NM_000077.5(CDKN2A):c.150+82A>G	CDKN2A (S78G)	Single nucleotide variant (missense variant +1 more)	Melanoma-pancreatic cancer syndrome	GUncertain significance
Select item 573530	NM_000077.5(CDKN2A):c.198C>G (p.His66Gln)	CDKN2A (H66Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GUncertain significance
Select item 571866	NM_000077.5(CDKN2A):c.379G>C (p.Ala127Pro)	CDKN2A (A127P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 567122	NM_058195.4(CDKN2A):c.40G>A (p.Ala14Thr)	CDKN2A (A14T)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 548865	NM_000077.5(CDKN2A):c.150+170dup	CDKN2A (A109fs)	Duplication (frameshift variant +1 more)	Melanoma-pancreatic cancer syndrome	GLikely benign
Select item 548857	NM_058195.4(CDKN2A):c.194-3652G>C	CDKN2A, LOC130001603	Single nucleotide variant (intron variant)	Familial melanoma +4 more	GBenign/Likely benign
Select item 548792	NM_058195.4(CDKN2A):c.193+7A>G	CDKN2A	Single nucleotide variant (intron variant)	Familial melanoma +1 more	GLikely benign
Select item 548785	NM_058195.4(CDKN2A):c.43T>C (p.Cys15Arg)	CDKN2A (C15R)	Single nucleotide variant (missense variant +1 more)	Familial melanoma +2 more	GUncertain significance
Select item 491572	NM_000077.5(CDKN2A):c.296G>C (p.Arg99Pro)	CDKN2A (R99P +1 more)	Single nucleotide variant (missense variant +2 more)	Familial melanoma +5 more	GLikely pathogenic
Select item 487018	NM_000077.5(CDKN2A):c.2T>A (p.Met1Lys)	CDKN2A, LOC130001603 (M1K)	Single nucleotide variant (missense variant +2 more)	Melanoma-pancreatic cancer syndrome +6 more	GUncertain significance
Select item 483319	NM_000077.5(CDKN2A):c.26T>C (p.Met9Thr)	CDKN2A (M9T)	Single nucleotide variant (missense variant +1 more)	Melanoma-pancreatic cancer syndrome +2 more	GUncertain significance
Select item 463521	NM_058195.4(CDKN2A):c.85C>T (p.Arg29Trp)	CDKN2A (R29W)	Single nucleotide variant (missense variant +1 more)	Familial melanoma +4 more	GUncertain significance
Select item 463514	NM_058195.4(CDKN2A):c.167G>A (p.Gly56Glu)	CDKN2A (G56E)	Single nucleotide variant (missense variant +2 more)	Melanoma and neural system tumor syndrome +4 more	GUncertain significance
Select item 463499	NM_000077.5(CDKN2A):c.331G>A (p.Gly111Ser)	CDKN2A (G111S +2 more)	Single nucleotide variant (missense variant +1 more)	Melanoma-pancreatic cancer syndrome +2 more	GUncertain significance
Select item 463494	NM_000077.5(CDKN2A):c.301G>A (p.Gly101Arg)	CDKN2A (G101R +2 more)	Single nucleotide variant (missense variant +1 more)	Melanoma-pancreatic cancer syndrome +2 more	GUncertain significance
Select item 463486	NM_000077.5(CDKN2A):c.160A>C (p.Met54Leu)	CDKN2A (M54L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 430217	NM_000077.5(CDKN2A):c.146T>G (p.Ile49Ser)	CDKN2A (I49S)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 423630	NM_000077.5(CDKN2A):c.307C>T (p.Arg103Trp)	CDKN2A (A117V +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 420108	NM_000077.5(CDKN2A):c.68G>A (p.Gly23Asp)	CDKN2A (G23D)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 418881	NM_000077.5(CDKN2A):c.155T>C (p.Met52Thr)	CDKN2A (M52T +1 more)	Single nucleotide variant (missense variant +3 more)	Melanoma and neural system tumor syndrome +5 more	GUncertain significance
Select item 406711	NM_000077.5(CDKN2A):c.125A>G (p.Asn42Ser)	CDKN2A (N42S)	Single nucleotide variant (missense variant +1 more)	Melanoma-pancreatic cancer syndrome +4 more	GUncertain significance
Select item 406707	NM_000077.5(CDKN2A):c.259C>T (p.Arg87Trp)	CDKN2A (R87W +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GLikely pathogenic
Select item 406702	NM_000077.5(CDKN2A):c.315C>A (p.Asp105Glu)	CDKN2A (D105E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 406701	NM_000077.5(CDKN2A):c.203C>T (p.Ala68Val)	CDKN2A (A68V +1 more)	Single nucleotide variant (missense variant +2 more)	Familial melanoma +3 more	GConflicting classifications of pathogenicity
Select item 379882	NM_058195.4(CDKN2A):c.194-3653G>A	CDKN2A, LOC130001603	Single nucleotide variant (intron variant)	Familial melanoma +3 more	GConflicting classifications of pathogenicity
Select item 376379	NM_000077.5(CDKN2A):c.248A>G (p.His83Arg)	CDKN2A (H83R +1 more)	Single nucleotide variant (missense variant +2 more)	Melanoma-pancreatic cancer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 376307	NM_000077.5(CDKN2A):c.247C>T (p.His83Tyr)	CDKN2A (A97V +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 372077	NM_058195.4(CDKN2A):c.-33G>A	CDKN2A	Single nucleotide variant (5 prime UTR variant +1 more)	Melanoma-pancreatic cancer syndrome	GUncertain significance
Select item 372062	NM_000077.5(CDKN2A):c.295C>G (p.Arg99Gly)	CDKN2A (P113R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 372034	NM_000077.5(CDKN2A):c.150+1104C>T	CDKN2A	Single nucleotide variant (intron variant)	Melanoma-pancreatic cancer syndrome	GLikely benign
Select item 372023	NM_058195.4(CDKN2A):c.69C>A (p.Phe23Leu)	CDKN2A (F23L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 371989	NM_000077.5(CDKN2A):c.150+104_150+105del	CDKN2A (K85fs)	Deletion (intron variant +1 more)	Melanoma-pancreatic cancer syndrome	GLikely benign
Select item 371982	NM_000077.5(CDKN2A):c.150+40C>T	CDKN2A (R64*)	Single nucleotide variant (nonsense +1 more)	Melanoma-pancreatic cancer syndrome	GLikely benign
Select item 371974	NM_058195.4(CDKN2A):c.62G>A (p.Arg21Lys)	CDKN2A (R21K)	Single nucleotide variant (missense variant +1 more)	Familial melanoma +2 more	GUncertain significance
Select item 371948	NM_000077.5(CDKN2A):c.150+71_150+76del	CDKN2A	Deletion (inframe_deletion +1 more)	Melanoma-pancreatic cancer syndrome	GLikely benign
Select item 371946	NM_000077.5(CDKN2A):c.151-14G>A	CDKN2A	Single nucleotide variant (intron variant)	Melanoma-pancreatic cancer syndrome +3 more	GBenign/Likely 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 371926	NM_000077.5(CDKN2A):c.150+193G>A	CDKN2A (E115K)	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 371901	NM_000077.5(CDKN2A):c.150+216A>G	CDKN2A	Single nucleotide variant (3 prime UTR variant +1 more)	Melanoma-pancreatic cancer syndrome +1 more	GLikely benign
Select item 371881	NM_058195.4(CDKN2A):c.79A>C (p.Ile27Leu)	CDKN2A (I27L)	Single nucleotide variant (missense variant +1 more)	Familial melanoma +5 more	GUncertain significance
Select item 265298	NM_058195.4(CDKN2A):c.92C>G (p.Thr31Arg)	CDKN2A (T31R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 254882	NM_000077.5(CDKN2A):c.150+1255C>A	CDKN2A	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 246437	NM_000077.5(CDKN2A):c.344T>A (p.Val115Glu)	CDKN2A (V115E +1 more)	Single nucleotide variant (missense variant +2 more)	Melanoma-pancreatic cancer syndrome +5 more	GUncertain significance
Select item 246117	NM_000077.5(CDKN2A):c.197A>G (p.His66Arg)	CDKN2A (H66R +1 more)	Single nucleotide variant (missense variant +2 more)	Familial melanoma +4 more	GConflicting classifications of pathogenicity
Select item 246004	NM_058195.4(CDKN2A):c.94G>A (p.Gly32Arg)	CDKN2A (G32R)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 245907	NM_058195.4(CDKN2A):c.194-3653G>C	CDKN2A, LOC130001603	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 245816	NM_058195.4(CDKN2A):c.13T>A (p.Phe5Ile)	CDKN2A (F5I)	Single nucleotide variant (missense variant +1 more)	Melanoma-pancreatic cancer syndrome +3 more	GUncertain significance
Select item 245681	NM_000077.5(CDKN2A):c.427G>A (p.Ala143Thr)	CDKN2A (A143T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 236985	NM_000077.5(CDKN2A):c.26T>A (p.Met9Lys)	CDKN2A (M9K)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 236983	NM_000077.5(CDKN2A):c.253G>A (p.Ala85Thr)	CDKN2A (A85T +2 more)	Single nucleotide variant (missense variant +1 more)	Melanoma and neural system tumor syndrome +4 more	GUncertain significance
Select item 233990	NM_000077.5(CDKN2A):c.412A>G (p.Arg138Gly)	CDKN2A (R138G +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 232304	NM_000077.5(CDKN2A):c.149A>G (p.Gln50Arg)	CDKN2A (Q50R)	Single nucleotide variant (missense variant +1 more)	Melanoma and neural system tumor syndrome +4 more	GPathogenic/Likely pathogenic
Select item 231362	NM_000077.5(CDKN2A):c.370C>T (p.Arg124Cys)	CDKN2A (R124C +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 231262	NM_000077.5(CDKN2A):c.143C>G (p.Pro48Arg)	CDKN2A (P48R)	Single nucleotide variant (missense variant +1 more)	Melanoma-pancreatic cancer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 230375	NM_000077.5(CDKN2A):c.202_203delinsTT (p.Ala68Leu)	CDKN2A (R82L +2 more)	Indel (missense variant +1 more)	Melanoma-pancreatic cancer syndrome +2 more	GLikely pathogenic
Select item 229806	NM_000077.5(CDKN2A):c.250G>A (p.Asp84Asn)	CDKN2A (D84N +2 more)	Single nucleotide variant (missense variant +1 more)	Melanoma-pancreatic cancer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 221032	NM_000077.5(CDKN2A):c.-14C>T	CDKN2A, LOC130001603	Single nucleotide variant (5 prime UTR variant +1 more)	Melanoma-pancreatic cancer syndrome +3 more	GConflicting classifications of pathogenicity
Select item 220864	NM_000077.5(CDKN2A):c.150+1104C>A	CDKN2A	Single nucleotide variant (intron variant)	Melanoma and neural system tumor syndrome +3 more	GUncertain significance
Select item 220829	NM_000077.5(CDKN2A):c.369T>C (p.His123=)	CDKN2A	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 220562	NM_000077.5(CDKN2A):c.170C>T (p.Ala57Val)	CDKN2A (A57V +1 more)	Single nucleotide variant (missense variant +2 more)	Melanoma-pancreatic cancer syndrome +4 more	GConflicting classifications of pathogenicity
Select item 216277	NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[1] (p.Ala4_Pro11del)	CDKN2A, LOC130001603	Microsatellite (inframe_deletion +2 more)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 216276	NM_000077.5(CDKN2A):c.415G>C (p.Gly139Arg)	CDKN2A (G139R +1 more)	Single nucleotide variant (missense variant +1 more)	Melanoma-pancreatic cancer syndrome +4 more	GConflicting classifications of pathogenicity
Select item 216035	NM_000077.5(CDKN2A):c.457G>T (p.Asp153Tyr)	CDKN2A (D153Y +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 187095	NM_058195.4(CDKN2A):c.136G>A (p.Val46Met)	CDKN2A (V46M)	Single nucleotide variant (missense variant +2 more)	Melanoma, cutaneous malignant, susceptibility to, 2 +4 more	GUncertain significance
Select item 186615	NM_000077.5(CDKN2A):c.206A>G (p.Glu69Gly)	CDKN2A (E69G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 184241	NM_000077.5(CDKN2A):c.384G>A (p.Arg128=)	CDKN2A	Single nucleotide variant (synonymous variant +1 more)	Familial melanoma +4 more	GBenign/Likely benign
Select item 182421	NM_058195.4(CDKN2A):c.-28C>G	CDKN2A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 182419	NM_000077.5(CDKN2A):c.365G>T (p.Gly122Val)	CDKN2A (G122V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity

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