"Mendelics"[submitter] AND "CDKN2A"[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 802459	NM_000077.5(CDKN2A):c.457+1129C>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 802461	NM_000077.5(CDKN2A):c.457+30C>T	CDKN2A	Single nucleotide variant (intron variant)	Melanoma-pancreatic cancer syndrome	GLikely benign
Select item 41579	NM_000077.5(CDKN2A):c.430C>T (p.Arg144Cys)	CDKN2A (R144C +1 more)	Single nucleotide variant (missense variant +1 more)	Familial melanoma +5 more	GBenign/Likely benign
Select item 1061502	NM_000077.5(CDKN2A):c.404G>C (p.Gly135Ala)	CDKN2A (G135A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 184241	NM_000077.5(CDKN2A):c.384G>A (p.Arg128=)	CDKN2A	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 41578	NM_000077.5(CDKN2A):c.379G>T (p.Ala127Ser)	CDKN2A (A127S +1 more)	Single nucleotide variant (missense variant +1 more)	Melanoma-pancreatic cancer syndrome +6 more	GBenign/Likely benign
Select item 220829	NM_000077.5(CDKN2A):c.369T>C (p.His123=)	CDKN2A	Single nucleotide variant (synonymous variant +1 more)	Melanoma-pancreatic cancer syndrome +3 more	GLikely benign
Select item 127526	NM_000077.5(CDKN2A):c.369T>A (p.His123Gln)	CDKN2A (H123Q +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 802462	NM_000077.5(CDKN2A):c.333C>T (p.Gly111=)	CDKN2A (P126S)	Single nucleotide variant (synonymous variant +2 more)	Melanoma-pancreatic cancer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 135826	NM_000077.5(CDKN2A):c.318G>A (p.Val106=)	CDKN2A (A121T)	Single nucleotide variant (synonymous variant +2 more)	Familial melanoma +5 more	GConflicting classifications of pathogenicity
Select item 406702	NM_000077.5(CDKN2A):c.315C>A (p.Asp105Glu)	CDKN2A (D105E +2 more)	Single nucleotide variant (missense variant +1 more)	Melanoma-pancreatic cancer syndrome +3 more	GConflicting classifications of pathogenicity
Select item 9412	NM_000077.5(CDKN2A):c.301G>T (p.Gly101Trp)	CDKN2A (G101W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GPathogenic
Select item 127524	NM_000077.5(CDKN2A):c.298G>T (p.Ala100Ser)	CDKN2A (A100S +2 more)	Single nucleotide variant (missense variant +1 more)	Melanoma-pancreatic cancer syndrome +4 more	GConflicting classifications of pathogenicity
Select item 463515	NM_000077.5(CDKN2A):c.294C>T (p.His98=)	CDKN2A (P113S)	Single nucleotide variant (synonymous variant +2 more)	Familial melanoma +2 more	GConflicting classifications of pathogenicity
Select item 406707	NM_000077.5(CDKN2A):c.259C>T (p.Arg87Trp)	CDKN2A (R87W +2 more)	Single nucleotide variant (missense variant +1 more)	Familial melanoma +4 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)	Familial melanoma +2 more	GConflicting classifications of pathogenicity
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 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 246117	NM_000077.5(CDKN2A):c.197A>G (p.His66Arg)	CDKN2A (H66R +1 more)	Single nucleotide variant (missense variant +2 more)	Melanoma-pancreatic cancer syndrome +5 more	GConflicting classifications of pathogenicity
Select item 483325	NM_000077.5(CDKN2A):c.170C>A (p.Ala57Asp)	CDKN2A (A57D +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 220562	NM_000077.5(CDKN2A):c.170C>T (p.Ala57Val)	CDKN2A (A57V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 463486	NM_000077.5(CDKN2A):c.160A>C (p.Met54Leu)	CDKN2A (M54L +2 more)	Single nucleotide variant (missense variant +1 more)	Familial melanoma +4 more	GConflicting classifications of pathogenicity
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 802470	NM_000077.5(CDKN2A):c.150+280C>T	CDKN2A	Single nucleotide variant (intron variant)	CDKN2A-related condition +2 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 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 41573	NM_000077.5(CDKN2A):c.150+37G>C	CDKN2A (G63R)	Single nucleotide variant (missense variant +1 more)	Melanoma-pancreatic cancer syndrome +5 more	GConflicting classifications of pathogenicity
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 584732	NM_000077.5(CDKN2A):c.148C>A (p.Gln50Lys)	CDKN2A (Q50K)	Single nucleotide variant (missense variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 2 +1 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 216277	NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[1] (p.Ala4_Pro11del)	CDKN2A, LOC130001603	Microsatellite (inframe_deletion +2 more)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
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 127522	NM_000077.5(CDKN2A):c.-25C>T	CDKN2A, LOC130001603	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 548857	NM_058195.4(CDKN2A):c.194-3652G>C	CDKN2A, LOC130001603	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 379882	NM_058195.4(CDKN2A):c.194-3653G>A	CDKN2A, LOC130001603	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 182414	NM_058195.4(CDKN2A):c.194-3653G>T	CDKN2A, LOC130001603	Single nucleotide variant (genic upstream transcript variant +1 more)	Melanoma-pancreatic cancer syndrome +7 more	GPathogenic
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 802474	NM_058195.4(CDKN2A):c.194-3853_194-3852insGCG	CDKN2A	Insertion (intron variant)	Melanoma-pancreatic cancer syndrome	GLikely benign
Select item 802475	NM_058195.4(CDKN2A):c.194-3854_194-3853insGTG	CDKN2A	Insertion (intron variant)	Melanoma-pancreatic cancer syndrome	GLikely benign
Select item 487012	NM_058195.4(CDKN2A):c.160C>A (p.Arg54Ser)	CDKN2A (R54S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 584735	NM_058195.4(CDKN2A):c.35G>A (p.Arg12Gln)	CDKN2A (R12Q)	Single nucleotide variant (missense variant +2 more)	Familial melanoma +3 more	GUncertain significance

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Items: 43