ClinVar for Gene (Select 1030) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 137

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3489696	NM_004936.4(CDKN2B):c.174C>A (p.Ser58Arg)	CDKN2B, CDKN2B-AS1 (S58R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3489695	NM_004936.4(CDKN2B):c.68C>T (p.Ala23Val)	CDKN2B, CDKN2B-AS1 (A23V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3489693	NM_004936.4(CDKN2B):c.161T>C (p.Met54Thr)	CDKN2B, CDKN2B-AS1 (M54T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3265585	NM_004936.4(CDKN2B):c.176C>T (p.Ala59Val)	CDKN2B, CDKN2B-AS1 (A59V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3256489	NM_004936.4(CDKN2B):c.155A>C (p.Gln52Pro)	CDKN2B, CDKN2B-AS1 +1 more (Q52P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3256488	NM_004936.4(CDKN2B):c.156+3_156+6del	CDKN2B, CDKN2B-AS1 +1 more (A54fs)	Deletion (frameshift variant +1 more)	not specified	GLikely benign
Select item 3256487	NM_004936.4(CDKN2B):c.156+9G>A	CDKN2B, CDKN2B-AS1 +1 more	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3256486	NM_004936.4(CDKN2B):c.*29C>A	CDKN2B, CDKN2B-AS1	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 3245365	NC_000009.11:g.(?_21333005)_(22160087_?)dup	IFNA6, IFNA8 +10 more	Duplication	not provided	GUncertain significance
Select item 3141668	NM_004936.4(CDKN2B):c.386C>G (p.Ala129Gly)	CDKN2B, CDKN2B-AS1 (A129G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141667	NM_004936.4(CDKN2B):c.353A>C (p.Asp118Ala)	CDKN2B, CDKN2B-AS1 (D118A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 2692147	NM_004936.4(CDKN2B):c.325_351del (p.Arg109_Val117del)	CDKN2B, CDKN2B-AS1	Deletion (inframe deletion +1 more)	not specified	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 2664475	NM_004936.4(CDKN2B):c.*2763G>T	CDKN2B, CDKN2B-AS1	Single nucleotide variant (3 prime UTR variant)	Malignant tumor of breast	GLikely pathogenic
Select item 2664474	NM_004936.4(CDKN2B):c.*1346dup	CDKN2B, CDKN2B-AS1	Duplication (3 prime UTR variant)	Malignant tumor of breast	GLikely pathogenic
Select item 2664473	NM_004936.4(CDKN2B):c.845_846insCA	CDKN2B, CDKN2B-AS1	Insertion (3 prime UTR variant)	Malignant tumor of breast	GLikely pathogenic
Select item 2664472	NM_004936.4(CDKN2B):c.845_846insCACA	CDKN2B, CDKN2B-AS1	Insertion (3 prime UTR variant)	Malignant tumor of breast	GLikely pathogenic
Select item 2659131	NM_004936.4(CDKN2B):c.121A>G (p.Asn41Asp)	CDKN2B, CDKN2B-AS1 +1 more (N41D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2659130	NM_004936.4(CDKN2B):c.408G>C (p.Thr136=)	CDKN2B, CDKN2B-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2580263	NM_004936.4(CDKN2B):c.131A>G (p.Asn44Ser)	CDKN2B, CDKN2B-AS1 +1 more (N44S)	Single nucleotide variant (missense variant)	Acute lymphoid leukemia	GUncertain significance
Select item 2576502	NM_004936.4(CDKN2B):c.29G>T (p.Ser10Ile)	CDKN2B, CDKN2B-AS1 (S10I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2576501	NM_004936.4(CDKN2B):c.71G>A (p.Arg24Gln)	CDKN2B, CDKN2B-AS1 (R24Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2576500	NM_004936.4(CDKN2B):c.155A>G (p.Gln52Arg)	CDKN2B, CDKN2B-AS1 +1 more (Q52R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2576499	NM_004936.4(CDKN2B):c.156+22C>T	CDKN2B, CDKN2B-AS1 +1 more (R60C)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2576498	NM_004936.4(CDKN2B):c.343C>T (p.Leu115=)	CDKN2B, CDKN2B-AS1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2570618	NM_004936.4(CDKN2B):c.209_210del (p.Ala70fs)	CDKN2B, CDKN2B-AS1 (A70fs)	Microsatellite (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2566423	NM_004936.4(CDKN2B):c.48G>C (p.Glu16Asp)	CDKN2B, CDKN2B-AS1 (E16D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422312	NC_000009.11:g.(?_21974667)_(22160087_?)dup	CDKN2A, CDKN2B +1 more	Duplication	Familial melanoma	GUncertain significance
Select item 2401282	NM_004936.4(CDKN2B):c.34G>A (p.Gly12Ser)	CDKN2B, CDKN2B-AS1 (G12S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321061	NM_004936.4(CDKN2B):c.149C>T (p.Ala50Val)	CDKN2B, CDKN2B-AS1 +1 more (A50V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293989	NM_004936.4(CDKN2B):c.367C>T (p.Arg123Trp)	CDKN2B, CDKN2B-AS1 (R123W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205664	NM_004936.4(CDKN2B):c.122A>G (p.Asn41Ser)	CDKN2B-AS1, CDKN2B +1 more (N41S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808181	GRCh37/hg19 9p21.3(chr9:20659492-22347440)x3	CDKN2A, CDKN2B +22 more	Copy number gain	not provided	GUncertain significance
Select item 1802776	NM_004936.4(CDKN2B):c.252G>C (p.Val84=)	CDKN2B, CDKN2B-AS1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1802775	NM_004936.4(CDKN2B):c.401C>G (p.Thr134Arg)	CDKN2B, CDKN2B-AS1 (T134R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1707628	GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3	ACER2, ACO1 +199 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1704647	GRCh37/hg19 9p24.3-13.3(chr9:203861-35903398)x3	ACER2, ACO1 +169 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ATOSB, ATP6V1G1 +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1703576	GRCh37/hg19 9p24.3-q13(chr9:203861-68342786)	ACER2, ACO1 +204 more	Copy number gain	Bradycardia	GPathogenic
Select item 1703570	GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)	ACER2, ACO1 +204 more	Copy number gain	Tetrasomy 9p	GPathogenic
Select item 1697455	NM_004936.4(CDKN2B):c.-4C>T	CDKN2B, CDKN2B-AS1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1697454	NM_004936.4(CDKN2B):c.156+18G>T	LOC130001608, CDKN2B +1 more	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1697453	NM_004936.4(CDKN2B):c.*43C>G	CDKN2B, CDKN2B-AS1	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 1527516	GRCh37/hg19 9p21.3-21.1(chr9:22003967-30712948)	C9orf72, CAAP1 +13 more	Copy number loss	not specified	GUncertain significance
Select item 1527514	GRCh37/hg19 9p21.3(chr9:21902071-22015434)	CDKN2A, CDKN2B +1 more	Copy number loss	not specified	GPathogenic
Select item 1527513	GRCh37/hg19 9p21.3(chr9:21608134-22490685)	CDKN2A, CDKN2B +3 more	Copy number gain	not specified	GUncertain significance
Select item 1527495	GRCh37/hg19 9p24.3-13.3(chr9:676264-33743670)	ACER2, ACO1 +114 more	Copy number gain	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1527488	GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399)	SPATA31A5, SPATA31A6 +257 more	Copy number gain	not specified	GPathogenic
Select item 1527487	GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)	ACER2, ACO1 +205 more	Copy number gain	not specified	GPathogenic
Select item 1441665	NC_000009.11:g.(?_21970891)_(22062134_?)dup	CDKN2A, CDKN2B +1 more	Duplication	Familial melanoma	GUncertain significance
Select item 1430740	NC_000009.11:g.(?_21994128)_(22160087_?)dup	CDKN2B-AS1, CDKN2A +1 more	Duplication	Familial melanoma	GUncertain significance
Select item 1279271	NM_004936.4(CDKN2B):c.157-27C>A	CDKN2B, CDKN2B-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233062	NM_004936.4(CDKN2B):c.156+293T>A	CDKN2B, CDKN2B-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220605	NC_000009.12:g.22009338G>T	CDKN2B, CDKN2B-AS1	Single nucleotide variant	not provided	GBenign
Select item 1070481	NC_000009.11:g.(?_21968228)_(22160087_?)del	CDKN2A, CDKN2B +1 more	Deletion	Familial melanoma	GPathogenic
Select item 1014424	NC_000009.11:g.(?_21968228)_(22160087_?)dup	CDKN2A, CDKN2B +1 more	Duplication	Familial melanoma	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 812647	NC_000009.12:g.22003224C>T	CDKN2B, CDKN2B-AS1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 812646	NM_004936.4(CDKN2B):c.157-102G>A	CDKN2B, CDKN2B-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 812643	NC_000009.12:g.22005331T>G	CDKN2B, CDKN2B-AS1	Single nucleotide variant (3 prime UTR variant)	Three Vessel Coronary Disease	GUncertain significance
Select item 812639	NM_004936.4(CDKN2B):c.*2619C>T	CDKN2B, CDKN2B-AS1	Single nucleotide variant (3 prime UTR variant)	Three Vessel Coronary Disease +1 more	Gprotective OBenign
Select item 790615	NM_004936.4(CDKN2B):c.360C>T (p.Ala120=)	CDKN2B, CDKN2B-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 753382	NM_004936.4(CDKN2B):c.156+10G>A	CDKN2B, CDKN2B-AS1 +1 more (A56T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 694460	NC_000009.11:g.12246100_101559378inv	ANKS6, ANP32B +326 more	Inversion	Abnormal chromosome morphology +1 more	GLikely pathogenic
Select item 687476	GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3	CER1, CHMP5 +193 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 685107	GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3	CNTNAP3B, CREB3 +204 more	Copy number gain	not provided	GPathogenic
Select item 625636	GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958)	GBA2, MPDZ +195 more	Copy number gain	not provided	GPathogenic
Select item 625554	GRCh37/hg19 9p21.3(chr9:20715401-22136489)	CDKN2A, CDKN2B +22 more	Copy number loss	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	ACER2, ADAMTSL1 +89 more	Copy number gain	not provided	GPathogenic
Select item 559575	GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4	ACER2, ACO1 +201 more	Copy number gain	Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus	GLikely pathogenic
Select item 545378	Single allele	CDKN2A, CDKN2A-AS1 +78 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 523167	GRCh38/hg38 9p21.3(chr9:21939409-22706614)x0	LOC114022702, LOC126860595 +21 more	Copy number loss	Vascular endothelial growth factor (VEGF) inhibitor response	Gdrug response
Select item 523164	GRCh38/hg38 9p21.3(chr9:21879075-22096084)x0	CDKN2A, CDKN2A-AS1 +17 more	Copy number loss	Vascular endothelial growth factor (VEGF) inhibitor response	Gdrug response
Select item 523160	GRCh37/hg19 9p23-21.2(chr9:10320113-26205565)x1	RPS6, TYRP1 +51 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 443177	GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3	ACER2, ACO1 +194 more	Copy number gain	See cases	GPathogenic
Select item 442489	GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3	ABHD17B, ACER2 +274 more	Copy number gain	See cases	GPathogenic
Select item 442255	GRCh37/hg19 9p22.2-21.1(chr9:17684434-30889762)x3	ACER2, ADAMTSL1 +46 more	Copy number gain	See cases	GPathogenic
Select item 442183	GRCh37/hg19 9p24.1-21.1(chr9:5900425-30008330)x3	ACER2, ADAMTSL1 +69 more	Copy number gain	See cases	GPathogenic
Select item 442112	GRCh37/hg19 9p22.2-13.3(chr9:17132123-35567051)x3	ACER2, ACO1 +99 more	Copy number gain	See cases	GPathogenic
Select item 426555	NM_004936.4(CDKN2B):c.256G>A (p.Asp86Asn)	CDKN2B, CDKN2B-AS1 (D86N)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 394346	GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211)	CIMIP2B, CLTA +197 more	Copy number gain	See cases	GPathogenic
Select item 394238	GRCh37/hg19 9p21.3(chr9:20951885-22447709)x1	CDKN2A, CDKN2B +23 more	Copy number loss	See cases	GPathogenic
Select item 393860	GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4	ACER2, ACO1 +215 more	Copy number gain	See cases	GPathogenic
Select item 253667	GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253633	GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253592	GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4	ACER2, ACO1 +202 more	Copy number gain	See cases	GPathogenic

<< First< Prev

Page of 2