ClinVar for Gene (Select 4507) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3296515	NM_002451.4(MTAP):c.730G>A (p.Ala244Thr)	MTAP (A244T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3245365	NC_000009.11:g.(?_21333005)_(22160087_?)dup	IFNA6, IFNA8 +10 more	Duplication	not provided	GUncertain significance
Select item 3213308	NM_002451.4(MTAP):c.86G>A (p.Arg29Lys)	MTAP (R29K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3213299	NM_002451.4(MTAP):c.704G>A (p.Arg235Gln)	MTAP (R235Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3213296	NM_002451.4(MTAP):c.703C>T (p.Arg235Trp)	MTAP (R235W +1 more)	Single nucleotide variant (missense variant +2 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 3053866	NM_002451.4(MTAP):c.560G>A (p.Arg187His)	MTAP (R187H +1 more)	Single nucleotide variant (missense variant +1 more)	MTAP-related disorder	GLikely benign
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 2659127	NM_002451.4(MTAP):c.154A>G (p.Asn52Asp)	MTAP (N52D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2623655	NM_002451.4(MTAP):c.670T>C (p.Trp224Arg)	MTAP (W224R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616744	NM_002451.4(MTAP):c.14C>T (p.Thr5Ile)	MTAP (T5I)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2546210	NM_002451.4(MTAP):c.526C>T (p.Arg176Cys)	MTAP (R176C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512440	NM_002451.4(MTAP):c.475C>G (p.Leu159Val)	MTAP (L159V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511529	NM_002451.4(MTAP):c.116G>T (p.Gly39Val)	MTAP (G39V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282856	NM_002451.4(MTAP):c.682G>A (p.Glu228Lys)	MTAP (E228K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257112	NM_002451.4(MTAP):c.227C>T (p.Ala76Val)	MTAP (A93V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229359	NM_002451.4(MTAP):c.770A>G (p.Gln257Arg)	MTAP (Q274R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2225526	NM_002451.4(MTAP):c.428C>T (p.Pro143Leu)	MTAP (P160L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207410	NM_002451.4(MTAP):c.118A>C (p.Lys40Gln)	MTAP (K40Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2115224	NM_002451.4(MTAP):c.252G>C (p.Glu84Asp)	MTAP (E84D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 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 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 1319954	NM_002451.4(MTAP):c.278C>T (p.Thr93Ile)	MTAP (T93I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1289991	NM_002451.4(MTAP):c.450+136A>G	MTAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289972	NM_002451.4(MTAP):c.691-108G>T	MTAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285797	NM_002451.4(MTAP):c.347+109C>T	MTAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285792	NM_002451.4(MTAP):c.121-185A>G	MTAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276709	NM_002451.4(MTAP):c.120+84_120+85dup	MTAP	Duplication (intron variant)	not provided	GBenign
Select item 1276108	NM_002451.4(MTAP):c.34-266G>T	MTAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273154	NM_002451.4(MTAP):c.690+227G>T	MTAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271451	NM_002451.4(MTAP):c.690+169G>A	MTAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270211	NM_002451.4(MTAP):c.450+170C>A	MTAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258921	NM_002451.4(MTAP):c.121-76T>C	MTAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250872	NC_000009.12:g.21802469_21802470insG	MTAP	Insertion	not provided	GBenign
Select item 1245052	NM_002451.4(MTAP):c.180-23C>T	MTAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239449	NM_002451.4(MTAP):c.121-67A>G	MTAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238889	NM_002451.4(MTAP):c.120+279C>T	MTAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233845	NM_002451.4(MTAP):c.814-72T>G	MTAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230723	NM_002451.4(MTAP):c.121-140G>A	MTAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229885	NM_002451.4(MTAP):c.120+83_120+85dup	MTAP	Duplication (intron variant)	not provided	GBenign
Select item 1228164	NM_002451.4(MTAP):c.348-208C>T	MTAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228035	NC_000009.12:g.21802470A>G	MTAP	Single nucleotide variant	not provided	GBenign
Select item 1224955	NM_002451.4(MTAP):c.180-257T>C	MTAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223355	NM_002451.4(MTAP):c.33+142C>G	LOC130001599, MTAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222961	NC_000009.12:g.21802471A>G	MTAP	Single nucleotide variant	not provided	GBenign
Select item 1221697	NM_002451.4(MTAP):c.180-280A>G	MTAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 980351	GRCh37/hg19 9p21.3(chr9:21391297-23423892)x3	CDKN2A, CDKN2B +7 more	Copy number gain	not provided	GUncertain significance
Select item 915130	NM_002451.4(MTAP):c.*2740G>A	MTAP	Single nucleotide variant (3 prime UTR variant)	Diaphyseal medullary stenosis-bone malignancy syndrome	GUncertain significance
Select item 915129	NM_002451.4(MTAP):c.*2693G>A	MTAP	Single nucleotide variant (3 prime UTR variant)	Diaphyseal medullary stenosis-bone malignancy syndrome	GUncertain significance
Select item 915128	NM_002451.4(MTAP):c.*2660C>A	MTAP	Single nucleotide variant (3 prime UTR variant)	Diaphyseal medullary stenosis-bone malignancy syndrome	GUncertain significance
Select item 915083	NM_002451.4(MTAP):c.*1668T>C	MTAP	Single nucleotide variant (3 prime UTR variant)	Diaphyseal medullary stenosis-bone malignancy syndrome	GUncertain significance
Select item 915082	NM_002451.4(MTAP):c.*1558G>C	MTAP	Single nucleotide variant (3 prime UTR variant)	Diaphyseal medullary stenosis-bone malignancy syndrome	GUncertain significance
Select item 915081	NM_002451.4(MTAP):c.*1453C>T	MTAP	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 915080	NM_002451.4(MTAP):c.*1399C>A	MTAP	Single nucleotide variant (3 prime UTR variant)	Diaphyseal medullary stenosis-bone malignancy syndrome	GUncertain significance
Select item 915054	NM_002451.4(MTAP):c.*254A>T	MTAP	Single nucleotide variant (3 prime UTR variant)	Diaphyseal medullary stenosis-bone malignancy syndrome	GUncertain significance
Select item 915053	NM_002451.4(MTAP):c.*15C>A	MTAP	Single nucleotide variant (3 prime UTR variant)	Diaphyseal medullary stenosis-bone malignancy syndrome	GBenign
Select item 914999	NM_002451.4(MTAP):c.-52G>C	MTAP	Single nucleotide variant (5 prime UTR variant)	Diaphyseal medullary stenosis-bone malignancy syndrome	GUncertain significance
Select item 914527	NM_002451.4(MTAP):c.788G>T (p.Trp263Leu)	MTAP (W263L)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 913926	NM_002451.4(MTAP):c.*3774A>G	MTAP	Single nucleotide variant (3 prime UTR variant)	Diaphyseal medullary stenosis-bone malignancy syndrome	GUncertain significance
Select item 913925	NM_002451.4(MTAP):c.*3692G>A	MTAP	Single nucleotide variant (3 prime UTR variant)	Diaphyseal medullary stenosis-bone malignancy syndrome	GUncertain significance
Select item 913880	NM_002451.4(MTAP):c.*2481T>C	MTAP	Single nucleotide variant (3 prime UTR variant)	Diaphyseal medullary stenosis-bone malignancy syndrome	GUncertain significance
Select item 913879	NM_002451.4(MTAP):c.*2333C>G	MTAP	Single nucleotide variant (3 prime UTR variant)	Diaphyseal medullary stenosis-bone malignancy syndrome	GUncertain significance
Select item 913832	NM_002451.4(MTAP):c.*1093G>T	MTAP	Single nucleotide variant (3 prime UTR variant)	Diaphyseal medullary stenosis-bone malignancy syndrome	GUncertain significance
Select item 913831	NM_002451.4(MTAP):c.*912A>G	MTAP	Single nucleotide variant (3 prime UTR variant)	Diaphyseal medullary stenosis-bone malignancy syndrome	GUncertain significance
Select item 913545	NM_002451.4(MTAP):c.*3656A>G	MTAP	Single nucleotide variant (3 prime UTR variant)	Diaphyseal medullary stenosis-bone malignancy syndrome	GUncertain significance
Select item 913544	NM_002451.4(MTAP):c.*3501T>C	MTAP	Single nucleotide variant (3 prime UTR variant)	Diaphyseal medullary stenosis-bone malignancy syndrome	GUncertain significance
Select item 913543	NM_002451.4(MTAP):c.*3276A>G	MTAP	Single nucleotide variant (3 prime UTR variant)	Diaphyseal medullary stenosis-bone malignancy syndrome	GUncertain significance
Select item 913542	NM_002451.4(MTAP):c.*3160T>C	MTAP	Single nucleotide variant (3 prime UTR variant)	Diaphyseal medullary stenosis-bone malignancy syndrome	GUncertain significance
Select item 913501	NM_002451.4(MTAP):c.*2286A>G	MTAP	Single nucleotide variant (3 prime UTR variant)	Diaphyseal medullary stenosis-bone malignancy syndrome	GUncertain significance
Select item 913500	NM_002451.4(MTAP):c.*2269A>T	MTAP	Single nucleotide variant (3 prime UTR variant)	Diaphyseal medullary stenosis-bone malignancy syndrome	GUncertain significance
Select item 913499	NM_002451.4(MTAP):c.*2188C>T	MTAP	Single nucleotide variant (3 prime UTR variant)	Diaphyseal medullary stenosis-bone malignancy syndrome	GBenign
Select item 913498	NM_002451.4(MTAP):c.*2183T>C	MTAP	Single nucleotide variant (3 prime UTR variant)	Diaphyseal medullary stenosis-bone malignancy syndrome	GUncertain significance
Select item 913450	NM_002451.4(MTAP):c.*795A>T	MTAP	Single nucleotide variant (3 prime UTR variant)	Diaphyseal medullary stenosis-bone malignancy syndrome	GUncertain significance
Select item 913449	NM_002451.4(MTAP):c.*730A>G	MTAP	Single nucleotide variant (3 prime UTR variant)	Diaphyseal medullary stenosis-bone malignancy syndrome	GUncertain significance
Select item 913413	NM_002451.4(MTAP):c.224A>G (p.Gln75Arg)	MTAP (Q75R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 913045	NM_002451.4(MTAP):c.136A>C (p.Ile46Leu)	MTAP (I46L)	Single nucleotide variant (missense variant)	Diaphyseal medullary stenosis-bone malignancy syndrome	GBenign
Select item 913044	NM_002451.4(MTAP):c.119A>G (p.Lys40Arg)	MTAP (K40R)	Single nucleotide variant (missense variant)	Diaphyseal medullary stenosis-bone malignancy syndrome	GUncertain significance
Select item 913043	NM_002451.4(MTAP):c.111A>G (p.Pro37=)	MTAP	Single nucleotide variant (synonymous variant)	Diaphyseal medullary stenosis-bone malignancy syndrome	GBenign
Select item 912432	NM_002451.4(MTAP):c.*3060A>G	MTAP	Single nucleotide variant (3 prime UTR variant)	Diaphyseal medullary stenosis-bone malignancy syndrome	GUncertain significance
Select item 912431	NM_002451.4(MTAP):c.*3057T>A	MTAP	Single nucleotide variant (3 prime UTR variant)	Diaphyseal medullary stenosis-bone malignancy syndrome	GUncertain significance
Select item 912430	NM_002451.4(MTAP):c.*2937C>G	MTAP	Single nucleotide variant (3 prime UTR variant)	Diaphyseal medullary stenosis-bone malignancy syndrome	GUncertain significance
Select item 912374	NM_002451.4(MTAP):c.*2111A>G	MTAP	Single nucleotide variant (3 prime UTR variant)	Diaphyseal medullary stenosis-bone malignancy syndrome	GUncertain significance
Select item 912373	NM_002451.4(MTAP):c.*2033G>A	MTAP	Single nucleotide variant (3 prime UTR variant)	Diaphyseal medullary stenosis-bone malignancy syndrome	GUncertain significance
Select item 912372	NM_002451.4(MTAP):c.*1836C>G	MTAP	Single nucleotide variant (3 prime UTR variant)	Diaphyseal medullary stenosis-bone malignancy syndrome	GUncertain significance
Select item 912324	NM_002451.4(MTAP):c.*395A>G	MTAP	Single nucleotide variant (3 prime UTR variant)	Diaphyseal medullary stenosis-bone malignancy syndrome	GUncertain significance
Select item 912323	NM_002451.4(MTAP):c.*303G>A	MTAP	Single nucleotide variant (3 prime UTR variant)	Diaphyseal medullary stenosis-bone malignancy syndrome	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 757732	NM_002451.4(MTAP):c.451-6T>C	MTAP	Single nucleotide variant (intron variant)	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

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