"Quest Diagnostics Nichols Institute San Juan Capistrano"[submitter] A - ClinVar

Search results

Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 801144	NM_000077.5(CDKN2A):c.457+3G>A	CDKN2A	Single nucleotide variant (intron variant)	Familial melanoma +2 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 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 406723	NM_000077.5(CDKN2A):c.431G>A (p.Arg144His)	CDKN2A (R144H +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
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 383182	NM_000077.5(CDKN2A):c.405G>A (p.Gly135=)	CDKN2A	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
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 220829	NM_000077.5(CDKN2A):c.369T>C (p.His123=)	CDKN2A	Single nucleotide variant (synonymous variant +1 more)	Familial melanoma +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 182419	NM_000077.5(CDKN2A):c.365G>T (p.Gly122Val)	CDKN2A (G122V +1 more)	Single nucleotide variant (missense variant +1 more)	Familial melanoma +6 more	GConflicting classifications of pathogenicity
Select item 219905	NM_000077.5(CDKN2A):c.361C>G (p.Leu121Val)	CDKN2A (L121V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Familial melanoma +4 more	GConflicting classifications of pathogenicity
Select item 419130	NM_000077.5(CDKN2A):c.343G>T (p.Val115Leu)	CDKN2A (R129L +2 more)	Single nucleotide variant (missense variant +1 more)	Familial melanoma +4 more	GUncertain significance
Select item 127525	NM_000077.5(CDKN2A):c.325G>C (p.Ala109Pro)	CDKN2A (A109P +2 more)	Single nucleotide variant (missense variant +1 more)	Melanoma-pancreatic cancer syndrome +5 more	GUncertain significance
Select item 135826	NM_000077.5(CDKN2A):c.318G>A (p.Val106=)	CDKN2A (A121T)	Single nucleotide variant (synonymous variant +2 more)	not specified +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)	not provided +4 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)	Familial melanoma +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 821947	NM_000077.5(CDKN2A):c.288G>A (p.Val96=)	CDKN2A (A111T)	Single nucleotide variant (synonymous variant +2 more)	not provided +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 619829	NM_000077.5(CDKN2A):c.272T>A (p.Leu91Gln)	CDKN2A (L91Q +1 more)	Single nucleotide variant (missense variant +2 more)	Familial melanoma +2 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 +2 more	GUncertain significance
Select item 187515	NM_000077.5(CDKN2A):c.261G>A (p.Arg87=)	CDKN2A (G102R)	Single nucleotide variant (synonymous variant +2 more)	Familial melanoma +3 more	GConflicting classifications of pathogenicity
Select item 833585	NM_000077.5(CDKN2A):c.225C>T (p.Pro75=)	CDKN2A (R90C)	Single nucleotide variant (synonymous variant +2 more)	Familial melanoma +2 more	GLikely benign
Select item 230923	NM_000077.5(CDKN2A):c.225C>G (p.Pro75=)	CDKN2A (R90G)	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 414092	NM_000077.5(CDKN2A):c.198C>T (p.His66=)	CDKN2A (R81W)	Single nucleotide variant (synonymous variant +2 more)	Familial melanoma +3 more	GConflicting classifications of pathogenicity
Select item 246117	NM_000077.5(CDKN2A):c.197A>G (p.His66Arg)	CDKN2A (H66R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GConflicting classifications of pathogenicity
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 532285	NM_000077.5(CDKN2A):c.172C>G (p.Arg58Gly)	CDKN2A (P72R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +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 187272	NM_000077.5(CDKN2A):c.170C>G (p.Ala57Gly)	CDKN2A (A57G +1 more)	Single nucleotide variant (missense variant +2 more)	Melanoma and neural system tumor syndrome +3 more	GUncertain significance
Select item 9425	NM_000077.5(CDKN2A):c.167G>T (p.Ser56Ile)	CDKN2A (S56I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
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 9414	NM_000077.5(CDKN2A):c.159G>C (p.Met53Ile)	CDKN2A (M53I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic
Select item 819568	NM_000077.5(CDKN2A):c.156G>A (p.Met52Ile)	CDKN2A (D67N +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
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 993217	NM_000077.5(CDKN2A):c.151-7C>T	CDKN2A	Single nucleotide variant (intron variant)	Familial melanoma +1 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 133878	NM_000077.5(CDKN2A):c.149A>T (p.Gln50Leu)	CDKN2A (Q50L)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
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 489863	NM_000077.5(CDKN2A):c.106G>A (p.Ala36Thr)	CDKN2A (A36T)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 230671	NM_000077.5(CDKN2A):c.87G>A (p.Arg29=)	CDKN2A	Single nucleotide variant (synonymous variant +1 more)	Familial melanoma +3 more	GLikely benign
Select item 414091	NM_000077.5(CDKN2A):c.81G>A (p.Glu27=)	CDKN2A	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 406714	NM_000077.5(CDKN2A):c.71G>A (p.Arg24Gln)	CDKN2A (R24Q)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 215440	NM_000077.5(CDKN2A):c.51C>A (p.Ala17=)	CDKN2A	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 182422	NM_000077.5(CDKN2A):c.45G>T (p.Trp15Cys)	CDKN2A (W15C)	Single nucleotide variant (missense variant +1 more)	Familial melanoma +4 more	GUncertain significance
Select item 187508	NM_000077.5(CDKN2A):c.38C>T (p.Ala13Val)	CDKN2A (A13V)	Single nucleotide variant (missense variant +1 more)	Familial melanoma +2 more	GUncertain significance
Select item 135827	NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[3] (p.Ala4_Pro11dup)	CDKN2A	Microsatellite (inframe_insertion +2 more)	Melanoma-pancreatic cancer syndrome +5 more	GPathogenic/Likely pathogenic
Select item 216277	NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[1] (p.Ala4_Pro11del)	CDKN2A, LOC130001603	Microsatellite (inframe_deletion +2 more)	not specified +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 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 245907	NM_058195.4(CDKN2A):c.194-3653G>C	CDKN2A, LOC130001603	Single nucleotide variant (intron variant)	Melanoma-pancreatic cancer syndrome +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)	not provided +7 more	GPathogenic
Select item 969967	NM_058195.4(CDKN2A):c.193+1del	CDKN2A	Deletion (intron variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely pathogenic
Select item 463489	NM_058195.4(CDKN2A):c.152G>C (p.Arg51Thr)	CDKN2A (R51T)	Single nucleotide variant (missense variant +1 more)	Familial melanoma +2 more	GConflicting classifications of pathogenicity
Select item 571028	NM_058195.4(CDKN2A):c.97dup (p.Glu33fs)	CDKN2A (E33fs)	Duplication (frameshift variant +2 more)	Familial melanoma +3 more	GConflicting classifications of pathogenicity
Select item 947132	NM_058195.4(CDKN2A):c.97G>A (p.Glu33Lys)	CDKN2A (E33K)	Single nucleotide variant (missense variant +2 more)	Familial melanoma +3 more	GUncertain significance
Select item 265298	NM_058195.4(CDKN2A):c.92C>G (p.Thr31Arg)	CDKN2A (T31R)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 232139	NM_058195.4(CDKN2A):c.92C>T (p.Thr31Met)	CDKN2A (T31M)	Single nucleotide variant (missense variant +1 more)	Familial melanoma +2 more	GUncertain significance
Select item 993059	NM_058195.4(CDKN2A):c.70G>A (p.Val24Met)	CDKN2A (V24M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 136717	NM_058195.4(CDKN2A):c.69C>T (p.Phe23=)	CDKN2A	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 993218	NM_058195.4(CDKN2A):c.23C>A (p.Thr8Asn)	CDKN2A (T8N)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2684569	GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3	CREB3, STOML2 +188 more	Copy number gain	not provided	GPathogenic
Select item 1808181	GRCh37/hg19 9p21.3(chr9:20659492-22347440)x3	CDKN2A, CDKN2B +22 more	Copy number gain	not provided	GUncertain significance
Select item 980351	GRCh37/hg19 9p21.3(chr9:21391297-23423892)x3	CDKN2A, CDKN2B +7 more	Copy number gain	not provided	GUncertain significance
Select item 815249	GRCh37/hg19 9p21.3(chr9:21936290-22082568)x3	CDKN2A, CDKN2B +1 more	Copy number gain	not provided	GUncertain significance
Select item 815245	GRCh37/hg19 9p21.3(chr9:20829681-22069144)x3	CDKN2A, CDKN2B +22 more	Copy number gain	not provided	GUncertain significance
Select item 815190	GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3	ACER2, ACO1 +213 more	Copy number gain	not provided	GPathogenic
Select item 563687	GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3	ACER2, ACO1 +225 more	Copy number gain	not provided	GPathogenic
Select item 563686	GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4	ACER2, ACO1 +213 more	Copy number gain	not provided	GPathogenic
Select item 563685	GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4	CNTNAP3, CNTNAP3B +204 more	Copy number gain	not provided	GPathogenic
Select item 563684	GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4	ATOSB, B4GALT1 +204 more	Copy number gain	not provided	GPathogenic
Select item 563683	GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3	DMAC1, DMRT1 +194 more	Copy number gain	not provided	GPathogenic
Select item 563682	GRCh37/hg19 9p24.3-21.2(chr9:203861-26397133)x3	DMAC1, TYRP1 +89 more	Copy number gain	not provided	GPathogenic

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Items: 80