CDKN1B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
Select item 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007190, LOC130007191 +698 more	Copy number gain	See cases	GPathogenic
Select item 154815	GRCh38/hg38 12p13.2-12.3(chr12:11121039-15908154)x1	APOLD1, ARHGDIB +238 more	Copy number loss	See cases	GLikely pathogenic
Select item 57166	GRCh38/hg38 12p13.2-13.1(chr12:11771233-13547775)x1	APOLD1, BCL2L14 +121 more	Copy number loss	See cases	GPathogenic
Select item 146005	GRCh38/hg38 12p13.2-12.3(chr12:12363649-15280588)x1	APOLD1, ARHGDIB +137 more	Copy number loss	See cases	GPathogenic
Select item 58986	GRCh38/hg38 12p13.2-12.3(chr12:12388842-15540422)x1	APOLD1, ARHGDIB +140 more	Copy number loss	See cases	GPathogenic
Select item 695291	NM_004064.4(CDKN1B):c.-838C>A	CDKN1B, GPR19 +1 more	Single nucleotide variant (genic upstream transcript variant)	Multiple endocrine neoplasia type 4 +1 more	GBenign
Select item 1266363	NC_000012.12:g.12717038G>T	CDKN1B, GPR19 +1 more	Single nucleotide variant	not provided	GBenign
Select item 307647	NM_004064.5(CDKN1B):c.-471T>G	CDKN1B, LOC130007457	Single nucleotide variant (5 prime UTR variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 183394	NM_004064.5(CDKN1B):c.-454_-451del	CDKN1B, LOC130007457	Deletion (5 prime UTR variant)	Multiple endocrine neoplasia type 4	GPathogenic
Select item 880821	NM_004064.5(CDKN1B):c.-423G>A	CDKN1B	Single nucleotide variant (5 prime UTR variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 307648	NM_004064.5(CDKN1B):c.-411T>C	CDKN1B	Single nucleotide variant (5 prime UTR variant)	Multiple endocrine neoplasia type 4	GBenign
Select item 880822	NM_004064.5(CDKN1B):c.-386C>G	CDKN1B	Single nucleotide variant (5 prime UTR variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 307649	NM_004064.5(CDKN1B):c.-386C>T	CDKN1B	Single nucleotide variant (5 prime UTR variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 880823	NM_004064.5(CDKN1B):c.-374G>A	CDKN1B	Single nucleotide variant (5 prime UTR variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 307650	NM_004064.5(CDKN1B):c.-371C>T	CDKN1B	Single nucleotide variant (5 prime UTR variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 307651	NM_004064.5(CDKN1B):c.-366C>T	CDKN1B, LOC130007458	Single nucleotide variant (5 prime UTR variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 307652	NM_004064.5(CDKN1B):c.-336A>G	CDKN1B, LOC130007458	Single nucleotide variant (5 prime UTR variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 307653	NM_004064.5(CDKN1B):c.-271del	CDKN1B, LOC130007458	Deletion (5 prime UTR variant)	Multiple endocrine neoplasia	GUncertain significance
Select item 307654	NM_004064.5(CDKN1B):c.-266C>G	CDKN1B	Single nucleotide variant (5 prime UTR variant)	Multiple endocrine neoplasia type 4 +1 more	GBenign
Select item 307655	NM_004064.5(CDKN1B):c.-254C>G	CDKN1B	Single nucleotide variant (5 prime UTR variant)	Multiple endocrine neoplasia type 4	GBenign
Select item 882211	NM_004064.5(CDKN1B):c.-226C>T	CDKN1B	Single nucleotide variant (5 prime UTR variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 882212	NM_004064.5(CDKN1B):c.-222C>T	CDKN1B	Single nucleotide variant (5 prime UTR variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 307656	NM_004064.5(CDKN1B):c.-202C>T	CDKN1B	Single nucleotide variant (5 prime UTR variant)	Multiple endocrine neoplasia type 4 +1 more	GLikely benign
Select item 307657	NM_004064.5(CDKN1B):c.-126C>T	CDKN1B	Single nucleotide variant (5 prime UTR variant)	Multiple endocrine neoplasia type 4	GBenign
Select item 217125	NM_004064.5(CDKN1B):c.-80C>T	CDKN1B	Single nucleotide variant (5 prime UTR variant)	CDKN1B-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 307658	NM_004064.5(CDKN1B):c.-79T>C	CDKN1B	Single nucleotide variant (5 prime UTR variant)	Multiple endocrine neoplasia type 4 +1 more	GBenign
Select item 827022	NM_004064.5(CDKN1B):c.-73G>A	CDKN1B	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1878995	NM_004064.5(CDKN1B):c.-36G>C	CDKN1B	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 217126	NM_004064.5(CDKN1B):c.-31AG[1]	CDKN1B	Microsatellite (5 prime UTR variant)	CDKN1B-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 3029399	NM_004064.5(CDKN1B):c.-24C>T	CDKN1B	Single nucleotide variant (5 prime UTR variant)	CDKN1B-related disorder	GLikely benign
Select item 3055291	NM_004064.5(CDKN1B):c.-20C>T	CDKN1B	Single nucleotide variant (5 prime UTR variant)	CDKN1B-related disorder	GLikely benign
Select item 1710714	NM_004064.5(CDKN1B):c.-17G>A	CDKN1B	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 3032791	NM_004064.5(CDKN1B):c.-10C>G	CDKN1B	Single nucleotide variant (5 prime UTR variant)	CDKN1B-related disorder	GLikely benign
Select item 583825	NC_000012.11:g.(?_12870764)_(12871890_?)dup	CDKN1B	Duplication	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 307659	NM_004064.5(CDKN1B):c.-10C>T	CDKN1B	Single nucleotide variant (5 prime UTR variant)	Multiple endocrine neoplasia type 4 +1 more	GConflicting classifications of pathogenicity
Select item 1704812	NM_004064.5(CDKN1B):c.-9G>A	CDKN1B	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1692756	NM_004064.5(CDKN1B):c.-7G>A	CDKN1B	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 827382	NM_004064.5(CDKN1B):c.-7G>C	CDKN1B	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1751017	NM_004064.5(CDKN1B):c.-5G>T	CDKN1B	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3223676	NM_004064.5(CDKN1B):c.-2A>G	CDKN1B	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 960097	NM_004064.5(CDKN1B):c.1_15del (p.Met1_Arg5del)	CDKN1B	Deletion (inframe_deletion +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 958256	NM_004064.5(CDKN1B):c.1A>G (p.Met1Val)	CDKN1B (M1V)	Single nucleotide variant (missense variant +1 more)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 2624683	NM_004064.5(CDKN1B):c.2T>C (p.Met1Thr)	CDKN1B (M1T)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 469024	NM_004064.5(CDKN1B):c.3G>A (p.Met1Ile)	CDKN1B (M1I)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1415563	NM_004064.5(CDKN1B):c.5C>T (p.Ser2Leu)	CDKN1B (S2L)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4 +1 more	GUncertain significance
Select item 1113832	NM_004064.5(CDKN1B):c.6A>T (p.Ser2=)	CDKN1B	Single nucleotide variant (synonymous variant)	Multiple endocrine neoplasia type 4	GLikely benign
Select item 485504	NM_004064.5(CDKN1B):c.7A>G (p.Asn3Asp)	CDKN1B (N3D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2707728	NM_004064.5(CDKN1B):c.9del (p.Asn3fs)	CDKN1B (N3fs)	Deletion (frameshift variant)	Multiple endocrine neoplasia type 4	GPathogenic
Select item 1506536	NM_004064.5(CDKN1B):c.9C>A (p.Asn3Lys)	CDKN1B (N3K)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 706497	NM_004064.5(CDKN1B):c.9C>T (p.Asn3=)	CDKN1B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1792078	NM_004064.5(CDKN1B):c.10G>A (p.Val4Met)	CDKN1B (V4M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 959146	NM_004064.5(CDKN1B):c.10G>T (p.Val4Leu)	CDKN1B (V4L)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 941633	NM_004064.5(CDKN1B):c.11T>C (p.Val4Ala)	CDKN1B (V4A)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 536849	NM_004064.5(CDKN1B):c.12G>A (p.Val4=)	CDKN1B	Single nucleotide variant (synonymous variant)	Multiple endocrine neoplasia type 4	GLikely benign
Select item 1072930	NM_004064.5(CDKN1B):c.15_16dup (p.Val6fs)	CDKN1B (V6fs)	Duplication (frameshift variant)	Multiple endocrine neoplasia type 4	GPathogenic
Select item 1051010	NM_004064.5(CDKN1B):c.13C>G (p.Arg5Gly)	CDKN1B (R5G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 633662	NM_004064.5(CDKN1B):c.13C>T (p.Arg5Ter)	CDKN1B (R5*)	Single nucleotide variant (nonsense)	Multiple endocrine neoplasia type 4	GPathogenic
Select item 838842	NM_004064.5(CDKN1B):c.14G>A (p.Arg5Gln)	CDKN1B (R5Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1568530	NM_004064.5(CDKN1B):c.15A>G (p.Arg5=)	CDKN1B	Single nucleotide variant (synonymous variant)	Multiple endocrine neoplasia type 4	GLikely benign
Select item 1481713	NM_004064.5(CDKN1B):c.16G>A (p.Val6Met)	CDKN1B (V6M)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4 +1 more	GUncertain significance
Select item 1467433	NM_004064.5(CDKN1B):c.16G>C (p.Val6Leu)	CDKN1B (V6L)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 853264	NM_004064.5(CDKN1B):c.17T>C (p.Val6Ala)	CDKN1B (V6A)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 2576587	NM_004064.5(CDKN1B):c.18_23delinsT (p.Ser7fs)	CDKN1B (S7fs)	Indel (frameshift variant)	Multiple endocrine neoplasia type 4	GLikely pathogenic
Select item 1098106	NM_004064.5(CDKN1B):c.18G>A (p.Val6=)	CDKN1B	Single nucleotide variant (synonymous variant)	Multiple endocrine neoplasia type 4	GLikely benign
Select item 1421490	NM_004064.5(CDKN1B):c.21dup (p.Asn8Ter)	CDKN1B (N8*)	Duplication (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 469005	NM_004064.5(CDKN1B):c.20C>G (p.Ser7Cys)	CDKN1B (S7C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2681852	NM_004064.5(CDKN1B):c.21T>A (p.Ser7=)	CDKN1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 761309	NM_004064.5(CDKN1B):c.21T>C (p.Ser7=)	CDKN1B	Single nucleotide variant (synonymous variant)	Multiple endocrine neoplasia type 4	GLikely benign
Select item 1722272	NM_004064.5(CDKN1B):c.22A>T (p.Asn8Tyr)	CDKN1B (N8Y)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 469009	NM_004064.5(CDKN1B):c.24C>T (p.Asn8=)	CDKN1B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1498811	NM_004064.5(CDKN1B):c.25G>C (p.Gly9Arg)	CDKN1B (G9R)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 1009857	NM_004064.5(CDKN1B):c.25G>T (p.Gly9Trp)	CDKN1B (G9W)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 404270	NM_004064.5(CDKN1B):c.25G>A (p.Gly9Arg)	CDKN1B (G9R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2140529	NM_004064.5(CDKN1B):c.27_29del (p.Ser10del)	CDKN1B (S10del)	Deletion (inframe_deletion)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 1380822	NM_004064.5(CDKN1B):c.26G>A (p.Gly9Glu)	CDKN1B (G9E)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 1796204	NM_004064.5(CDKN1B):c.27G>T (p.Gly9=)	CDKN1B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 412883	NM_004064.5(CDKN1B):c.27G>A (p.Gly9=)	CDKN1B	Single nucleotide variant (synonymous variant)	Multiple endocrine neoplasia type 4 +1 more	GConflicting classifications of pathogenicity
Select item 853497	NM_004064.5(CDKN1B):c.29G>C (p.Ser10Thr)	CDKN1B (S10T)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4 +1 more	GUncertain significance
Select item 469019	NM_004064.5(CDKN1B):c.29G>A (p.Ser10Asn)	CDKN1B (S10N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1439592	NM_004064.5(CDKN1B):c.30C>G (p.Ser10Arg)	CDKN1B (S10R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 699704	NM_004064.5(CDKN1B):c.30C>T (p.Ser10=)	CDKN1B	Single nucleotide variant (synonymous variant)	Multiple endocrine neoplasia type 4 +1 more	GLikely benign
Select item 644305	NM_004064.5(CDKN1B):c.31C>G (p.Pro11Ala)	CDKN1B (P11A)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 404268	NM_004064.5(CDKN1B):c.31C>T (p.Pro11Ser)	CDKN1B (P11S)	Single nucleotide variant (missense variant)	Ovarian cancer +3 more	GConflicting classifications of pathogenicity
Select item 1729946	NM_004064.5(CDKN1B):c.32C>G (p.Pro11Arg)	CDKN1B (P11R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1007170	NM_004064.5(CDKN1B):c.32C>T (p.Pro11Leu)	CDKN1B (P11L)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4 +1 more	GUncertain significance
Select item 1731057	NM_004064.5(CDKN1B):c.33T>C (p.Pro11=)	CDKN1B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 823852	NM_004064.5(CDKN1B):c.34A>G (p.Ser12Gly)	CDKN1B (S12G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1014136	NM_004064.5(CDKN1B):c.35G>C (p.Ser12Thr)	CDKN1B (S12T)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 658216	NM_004064.5(CDKN1B):c.35G>A (p.Ser12Asn)	CDKN1B (S12N)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4 +2 more	GUncertain significance
Select item 469023	NM_004064.5(CDKN1B):c.35G>T (p.Ser12Ile)	CDKN1B (S12I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2585896	NM_004064.5(CDKN1B):c.36C>A (p.Ser12Arg)	CDKN1B (S12R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance

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