Related gene-specific medical variations for Gene (Select 1030) - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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, CDKN2B-AS1 +1 more (N41S)	Single nucleotide variant (missense variant)	not specified	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 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 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 812647	NM_004936.4(CDKN2B):c.*2763G>A	CDKN2B, CDKN2B-AS1	Single nucleotide variant (3 prime UTR variant)	Three Vessel Coronary Disease	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	NM_004936.4(CDKN2B):c.*656A>C	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)	Malignant tumor of breast +1 more	GLikely pathogenic; protective
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 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

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Items: 35