"Database of Curated Mutations (DoCM)"[submitter] AND "CDKN2A"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 376383	NM_000077.5(CDKN2A):c.341C>A (p.Pro114His)	CDKN2A (P114H +1 more)	Single nucleotide variant (missense variant +2 more)	Malignant melanoma of skin +3 more	GLikely pathogenic
Select item 77637	NM_000077.5(CDKN2A):c.341C>T (p.Pro114Leu)	CDKN2A (P114L +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 376382	NM_000077.5(CDKN2A):c.340C>A (p.Pro114Thr)	CDKN2A (A128D +2 more)	Single nucleotide variant (missense variant +1 more)	Familial melanoma	GUncertain significance
Select item 376303	NM_000077.5(CDKN2A):c.330G>A (p.Trp110Ter)	CDKN2A (G125R +2 more)	Single nucleotide variant (nonsense +2 more)	Familial melanoma +1 more	GPathogenic
Select item 376304	NM_000077.5(CDKN2A):c.329G>A (p.Trp110Ter)	CDKN2A (W110* +1 more)	Single nucleotide variant (nonsense +2 more)	Familial melanoma +1 more	GPathogenic
Select item 182423	NM_000077.5(CDKN2A):c.322G>T (p.Asp108Tyr)	CDKN2A (D108Y +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 376305	NM_000077.5(CDKN2A):c.262G>T (p.Glu88Ter)	CDKN2A (E88* +2 more)	Single nucleotide variant (nonsense +2 more)	Familial melanoma +1 more	GPathogenic
Select item 376306	NM_000077.5(CDKN2A):c.250G>T (p.Asp84Tyr)	CDKN2A (D84Y +2 more)	Single nucleotide variant (missense variant +1 more)	Familial melanoma +1 more	GConflicting classifications of pathogenicity
Select item 376381	NM_000077.5(CDKN2A):c.249C>G (p.His83Gln)	CDKN2A (H83Q +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
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 376380	NM_000077.5(CDKN2A):c.247C>G (p.His83Asp)	CDKN2A (A97G +2 more)	Single nucleotide variant (missense variant +1 more)	Gastric adenocarcinoma +7 more	GLikely pathogenic
Select item 376307	NM_000077.5(CDKN2A):c.247C>T (p.His83Tyr)	CDKN2A (A97V +2 more)	Single nucleotide variant (missense variant +1 more)	Familial melanoma +3 more	GConflicting classifications of pathogenicity
Select item 376385	NM_000077.5(CDKN2A):c.239G>A (p.Arg80Gln)	CDKN2A (R80Q +1 more)	Single nucleotide variant (missense variant +2 more)	Familial melanoma +1 more	GUncertain significance
Select item 9409	NM_000077.5(CDKN2A):c.238C>T (p.Arg80Ter)	CDKN2A (P94L +2 more)	Single nucleotide variant (nonsense +2 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 376308	NM_000077.5(CDKN2A):c.205G>T (p.Glu69Ter)	CDKN2A (E69* +2 more)	Single nucleotide variant (nonsense +2 more)	Neoplasm	GLikely pathogenic
Select item 376309	NM_000077.5(CDKN2A):c.181G>T (p.Glu61Ter)	CDKN2A (E61* +2 more)	Single nucleotide variant (nonsense +2 more)	Neoplasm	GLikely pathogenic
Select item 376310	NM_000077.5(CDKN2A):c.172C>T (p.Arg58Ter)	CDKN2A (P72L +2 more)	Single nucleotide variant (nonsense +2 more)	Familial melanoma +1 more	GPathogenic
Select item 376384	NM_000077.5(CDKN2A):c.150G>T (p.Gln50His)	CDKN2A (Q50H)	Single nucleotide variant (missense variant +1 more)	Familial melanoma +1 more	GUncertain significance
Select item 232304	NM_000077.5(CDKN2A):c.149A>G (p.Gln50Arg)	CDKN2A (Q50R)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic/Likely pathogenic