C1838547[trait identifier] AND "Counsyl"[submitter] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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
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 371902	NM_000077.5(CDKN2A):c.458-541A>G	CDKN2A	Single nucleotide variant (intron variant)	Melanoma-pancreatic cancer syndrome	GLikely benign
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 41580	NM_000077.5(CDKN2A):c.442G>A (p.Ala148Thr)	CDKN2A (A148T +1 more)	Single nucleotide variant (missense variant +1 more)	Familial melanoma +4 more	GBenign
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 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 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 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 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 9420	NM_000077.5(CDKN2A):c.377T>A (p.Val126Asp)	CDKN2A (V126D +1 more)	Single nucleotide variant (missense variant +1 more)	Melanoma and neural system tumor syndrome +5 more	GPathogenic
Select item 41577	NM_000077.5(CDKN2A):c.373G>C (p.Asp125His)	CDKN2A (D125H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 231362	NM_000077.5(CDKN2A):c.370C>T (p.Arg124Cys)	CDKN2A (R124C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 127526	NM_000077.5(CDKN2A):c.369T>A (p.His123Gln)	CDKN2A (H123Q +1 more)	Single nucleotide variant (missense variant +1 more)	Familial melanoma +4 more	GConflicting classifications of pathogenicity
Select item 463499	NM_000077.5(CDKN2A):c.331G>A (p.Gly111Ser)	CDKN2A (G111S +2 more)	Single nucleotide variant (missense variant +1 more)	Familial melanoma +2 more	GUncertain significance
Select item 406702	NM_000077.5(CDKN2A):c.315C>A (p.Asp105Glu)	CDKN2A (D105E +2 more)	Single nucleotide variant (missense variant +1 more)	Melanoma and neural system tumor syndrome +4 more	GConflicting classifications of pathogenicity
Select item 463494	NM_000077.5(CDKN2A):c.301G>A (p.Gly101Arg)	CDKN2A (G101R +2 more)	Single nucleotide variant (missense variant +1 more)	Familial melanoma +2 more	GUncertain significance
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 372062	NM_000077.5(CDKN2A):c.295C>G (p.Arg99Gly)	CDKN2A (P113R +2 more)	Single nucleotide variant (missense variant +1 more)	Melanoma-pancreatic cancer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 133882	NM_000077.5(CDKN2A):c.273G>A (p.Leu91=)	CDKN2A (G106R)	Single nucleotide variant (synonymous variant +2 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 182412	NM_000077.5(CDKN2A):c.240_253del (p.Pro81fs)	CDKN2A (P30fs +2 more)	Deletion (frameshift variant +1 more)	Familial melanoma +2 more	GPathogenic
Select item 9423	NM_000077.5(CDKN2A):c.176T>G (p.Val59Gly)	CDKN2A (V59G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 128200	NM_000077.5(CDKN2A):c.174A>C (p.Arg58=)	CDKN2A (S73R)	Single nucleotide variant (synonymous variant +2 more)	Familial melanoma +4 more	GBenign/Likely benign
Select item 141600	NM_000077.5(CDKN2A):c.151-4G>C	CDKN2A	Single nucleotide variant (intron variant)	Hepatocellular carcinoma +5 more	GConflicting classifications of pathogenicity
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 372034	NM_000077.5(CDKN2A):c.150+1104C>T	CDKN2A	Single nucleotide variant (intron variant)	Melanoma-pancreatic cancer syndrome	GLikely benign
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 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 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 548865	NM_000077.5(CDKN2A):c.150+170dup	CDKN2A (A109fs)	Duplication (frameshift variant +1 more)	Melanoma-pancreatic cancer syndrome	GLikely benign
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 371948	NM_000077.5(CDKN2A):c.150+71_150+76del	CDKN2A	Deletion (inframe_deletion +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 41573	NM_000077.5(CDKN2A):c.150+37G>C	CDKN2A (G63R)	Single nucleotide variant (missense variant +1 more)	Familial melanoma +4 more	GConflicting classifications of pathogenicity
Select item 133884	NM_000077.5(CDKN2A):c.150+20C>T	CDKN2A (A57V)	Single nucleotide variant (missense variant +1 more)	Melanoma-pancreatic cancer syndrome +2 more	GBenign/Likely benign
Select item 127523	NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr)	CDKN2A (I49T)	Single nucleotide variant (missense variant +1 more)	Osteoblastic osteosarcoma +7 more	GConflicting classifications of pathogenicity
Select item 9415	NM_000077.5(CDKN2A):c.71G>C (p.Arg24Pro)	CDKN2A (R24P)	Single nucleotide variant (missense variant +1 more)	Melanoma and neural system tumor syndrome +5 more	GPathogenic/Likely pathogenic
Select item 216277	NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[1] (p.Ala4_Pro11del)	LOC130001603, CDKN2A	Microsatellite (inframe_deletion +2 more)	Melanoma-pancreatic cancer syndrome +5 more	GConflicting classifications of pathogenicity
Select item 141245	NM_000077.5(CDKN2A):c.-2G>A	CDKN2A, LOC130001603	Single nucleotide variant (5 prime UTR variant +1 more)	Melanoma-pancreatic cancer syndrome +6 more	GBenign/Likely benign
Select item 221032	NM_000077.5(CDKN2A):c.-14C>T	CDKN2A, LOC130001603	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 127522	NM_000077.5(CDKN2A):c.-25C>T	CDKN2A, LOC130001603	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +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 245907	NM_058195.4(CDKN2A):c.194-3653G>C	LOC130001603, CDKN2A	Single nucleotide variant (intron variant)	not provided +4 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 and neural system tumor syndrome +7 more	GPathogenic
Select item 548792	NM_058195.4(CDKN2A):c.193+7A>G	CDKN2A	Single nucleotide variant (intron variant)	Melanoma-pancreatic cancer syndrome +1 more	GLikely benign
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 265298	NM_058195.4(CDKN2A):c.92C>G (p.Thr31Arg)	CDKN2A (T31R)	Single nucleotide variant (missense variant +1 more)	Familial melanoma +4 more	GConflicting classifications of pathogenicity
Select item 371881	NM_058195.4(CDKN2A):c.79A>C (p.Ile27Leu)	CDKN2A (I27L)	Single nucleotide variant (missense variant +1 more)	Melanoma-pancreatic cancer syndrome +3 more	GUncertain significance
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 136717	NM_058195.4(CDKN2A):c.69C>T (p.Phe23=)	CDKN2A	Single nucleotide variant (synonymous variant +1 more)	Familial melanoma +4 more	GBenign/Likely 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 548785	NM_058195.4(CDKN2A):c.43T>C (p.Cys15Arg)	CDKN2A (C15R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 245816	NM_058195.4(CDKN2A):c.13T>A (p.Phe5Ile)	CDKN2A (F5I)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 182421	NM_058195.4(CDKN2A):c.-28C>G	CDKN2A	Single nucleotide variant (5 prime UTR variant +1 more)	Melanoma-pancreatic cancer syndrome +1 more	GLikely benign
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

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Items: 56