ClinVar for Gene (Select 1773) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 220

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3181925	NM_016292.3(TRAP1):c.2005G>C (p.Val669Leu)	DNASE1, TRAP1 (V616L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181924	NM_016292.3(TRAP1):c.1894G>C (p.Glu632Gln)	DNASE1, TRAP1 (E579Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181923	NM_016292.3(TRAP1):c.1871T>C (p.Met624Thr)	DNASE1, TRAP1 (M624T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181922	NM_016292.3(TRAP1):c.1795G>A (p.Val599Met)	DNASE1, TRAP1 (V546M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181921	NM_016292.3(TRAP1):c.1783A>G (p.Thr595Ala)	DNASE1, TRAP1 (T542A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181919	NM_016292.3(TRAP1):c.1394C>G (p.Ala465Gly)	DNASE1, TRAP1 (A412G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084624	NM_005223.4(DNASE1):c.670A>C (p.Thr224Pro)	DNASE1 (T155P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084623	NM_005223.4(DNASE1):c.61G>A (p.Val21Met)	DNASE1 (V21M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3067943	NM_005223.4(DNASE1):c.91C>T (p.Gln31Ter)	DNASE1 (Q31*)	Single nucleotide variant (nonsense +2 more)	Systemic lupus erythematosus	GLikely pathogenic
Select item 3065185	NM_005223.4(DNASE1):c.398G>A (p.Arg133Gln)	DNASE1 (R133Q +1 more)	Single nucleotide variant (missense variant +1 more)	Systemic lupus erythematosus	GUncertain significance
Select item 3060936	NM_016292.3(TRAP1):c.1940+8C>T	DNASE1, TRAP1	Single nucleotide variant (intron variant)	TRAP1-related disorder	GLikely benign
Select item 3059079	NM_005223.4(DNASE1):c.528C>G (p.Val176=)	DNASE1	Single nucleotide variant (synonymous variant +1 more)	DNASE1-related condition	GBenign
Select item 3049024	NM_005223.4(DNASE1):c.126C>T (p.Thr42=)	DNASE1 (P3L)	Single nucleotide variant (synonymous variant +2 more)	DNASE1-related condition	GLikely benign
Select item 3048522	NM_005223.4(DNASE1):c.378C>T (p.Cys126=)	DNASE1	Single nucleotide variant (synonymous variant +1 more)	DNASE1-related condition	GLikely benign
Select item 3047096	NM_016292.3(TRAP1):c.1775C>T (p.Ser592Leu)	DNASE1, TRAP1 (S539L +1 more)	Single nucleotide variant (missense variant +1 more)	TRAP1-related disorder	GUncertain significance
Select item 3044569	NM_005223.4(DNASE1):c.168C>T (p.Ile56=)	DNASE1	Single nucleotide variant (synonymous variant +2 more)	DNASE1-related condition	GLikely benign
Select item 3041007	NM_005223.4(DNASE1):c.501C>T (p.Asp167=)	DNASE1	Single nucleotide variant (synonymous variant +1 more)	DNASE1-related condition	GLikely benign
Select item 3036941	NM_016292.3(TRAP1):c.1394C>A (p.Ala465Glu)	DNASE1, TRAP1 (A412E +1 more)	Single nucleotide variant (missense variant +1 more)	TRAP1-related disorder	GLikely benign
Select item 3035786	NM_005223.4(DNASE1):c.460C>G (p.Pro154Ala)	DNASE1 (P154A +2 more)	Single nucleotide variant (missense variant +1 more)	DNASE1-related condition	GBenign
Select item 3034868	NM_005223.4(DNASE1):c.655C>T (p.Pro219Ser)	DNASE1 (P150S +2 more)	Single nucleotide variant (missense variant +1 more)	DNASE1-related condition	GLikely benign
Select item 3024903	NM_005223.4(DNASE1):c.553G>A (p.Val185Ile)	DNASE1 (V116I +2 more)	Single nucleotide variant (missense variant +1 more)	DNASE1-related condition +1 more	GBenign/Likely benign
Select item 3024595	GRCh37/hg19 16p13.3(chr16:2990033-4837646)x1	ADCY9, ANKS3 +52 more	Copy number loss	not provided	GPathogenic
Select item 3011022	NM_016292.3(TRAP1):c.1916A>T (p.Gln639Leu)	DNASE1, TRAP1 (Q586L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3008016	NM_016292.3(TRAP1):c.1617T>C (p.Leu539=)	DNASE1, TRAP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2979460	NM_016292.3(TRAP1):c.2099C>T (p.Ala700Val)	DNASE1, TRAP1 (A647V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2979164	NM_016292.3(TRAP1):c.1518C>T (p.His506=)	DNASE1, TRAP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2978693	NM_016292.3(TRAP1):c.1901G>A (p.Arg634His)	DNASE1, TRAP1 (R581H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2976973	NM_016292.3(TRAP1):c.2113T>C (p.Ter705Arg)	DNASE1, TRAP1	Single nucleotide variant (stop lost +1 more)	not provided	GUncertain significance
Select item 2963657	NM_016292.3(TRAP1):c.1398G>A (p.Lys466=)	DNASE1, TRAP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2961399	NM_016292.3(TRAP1):c.2014-8C>T	DNASE1, TRAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2909724	NM_016292.3(TRAP1):c.1710C>T (p.Ala570=)	DNASE1, TRAP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2903673	NM_016292.3(TRAP1):c.1404G>A (p.Leu468=)	DNASE1, TRAP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2902027	NM_016292.3(TRAP1):c.1778G>C (p.Arg593Pro)	DNASE1, TRAP1 (R593P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2900753	NM_016292.3(TRAP1):c.1799C>T (p.Thr600Ile)	DNASE1, TRAP1 (T600I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2893507	NM_016292.3(TRAP1):c.1914G>A (p.Leu638=)	DNASE1, TRAP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2796848	NM_016292.3(TRAP1):c.1462A>C (p.Ser488Arg)	DNASE1, TRAP1 (S435R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2736616	NM_016292.3(TRAP1):c.1944C>T (p.His648=)	DNASE1, TRAP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2723566	NM_016292.3(TRAP1):c.1708+3C>T	DNASE1, TRAP1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2722293	NM_016292.3(TRAP1):c.1655C>T (p.Thr552Met)	DNASE1, TRAP1 (T499M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2715357	NM_016292.3(TRAP1):c.2074C>T (p.Arg692Cys)	DNASE1, TRAP1 (R692C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2713759	NM_016292.3(TRAP1):c.1833C>T (p.Thr611=)	DNASE1, TRAP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2713169	NM_016292.3(TRAP1):c.1946C>T (p.Ala649Val)	DNASE1, TRAP1 (A596V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2699321	NM_016292.3(TRAP1):c.1530C>G (p.His510Gln)	TRAP1, DNASE1 (H457Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2698032	NM_016292.3(TRAP1):c.1922C>T (p.Thr641Met)	DNASE1, TRAP1 (T588M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2691313	NC_000016.9:g.(?_3704691)_(3708097_?)del	DNASE1, TRAP1	Deletion	not specified	GUncertain significance
Select item 2688354	NM_005223.4(DNASE1):c.704+67G>C	DNASE1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2685544	GRCh37/hg19 16p13.3(chr16:3677837-3776352)x1	CREBBP, DNASE1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2684776	GRCh37/hg19 16p13.3(chr16:2643569-3716657)x3	BICDL2, C16orf90 +42 more	Copy number gain	not provided	GUncertain significance
Select item 2684774	GRCh37/hg19 16p13.3(chr16:2606711-3935836)x3	BICDL2, C16orf90 +43 more	Copy number gain	not provided	GPathogenic
Select item 2672612	NM_005223.4(DNASE1):c.350A>C (p.Tyr117Ser)	DNASE1 (Y117S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2646127	NM_016292.3(TRAP1):c.1431C>T (p.Ser477=)	DNASE1, TRAP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2646126	NM_016292.3(TRAP1):c.1631A>G (p.Lys544Arg)	DNASE1, TRAP1 (K491R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2646125	NM_005223.4(DNASE1):c.780C>A (p.Ala260=)	DNASE1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2646124	NM_005223.4(DNASE1):c.730_763dup (p.Phe255fs)	DNASE1 (F186fs +2 more)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2646123	NM_005223.4(DNASE1):c.578C>T (p.Ala193Val)	DNASE1 (A124V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2646122	NM_005223.4(DNASE1):c.552C>T (p.Asp184=)	DNASE1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2646121	NM_005223.4(DNASE1):c.439G>A (p.Val147Ile)	DNASE1 (V147I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2646120	NM_005223.4(DNASE1):c.319A>G (p.Arg107Gly)	DNASE1 (R107G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2646119	NM_005223.4(DNASE1):c.105G>C (p.Glu35Asp)	DNASE1 (E35D)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2636594	NM_016292.3(TRAP1):c.2057C>G (p.Pro686Arg)	DNASE1, TRAP1 (P633R +1 more)	Single nucleotide variant (missense variant +1 more)	TRAP1-related disorder	GUncertain significance
Select item 2604266	NM_016292.3(TRAP1):c.1789G>C (p.Val597Leu)	DNASE1, TRAP1 (V597L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555375	NM_016292.3(TRAP1):c.1834G>A (p.Val612Met)	DNASE1, TRAP1 (V559M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537710	NM_005223.4(DNASE1):c.325G>C (p.Asp109His)	DNASE1 (D40H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2506422	NM_016292.3(TRAP1):c.1915C>T (p.Gln639Ter)	DNASE1, TRAP1 (Q586* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital anomalies of kidney and urinary tract 1	GPathogenic
Select item 2499642	GRCh38/hg38 16p13.3(chr16:3499966-3774794)	TRAP1, CLUAP1 +18 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 2458147	NM_005223.4(DNASE1):c.740T>C (p.Val247Ala)	DNASE1 (V270A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2426041	NC_000016.9:g.(?_3565488)_(3801827_?)dup	CLUAP1, CREBBP +4 more	Duplication	not provided	GUncertain significance
Select item 2426037	NC_000016.9:g.(?_3551068)_(3901030_?)del	CLUAP1, CREBBP +4 more	Deletion	not provided	GUncertain significance
Select item 2425098	NC_000016.9:g.(?_3293141)_(5971108_?)dup	NUDT16L1, MEFV +45 more	Duplication	Rubinstein-Taybi syndrome	GUncertain significance
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	PRSS21, PRSS22 +170 more	Duplication	Idiopathic generalized epilepsy +3 more	GUncertain significance
Select item 2402832	NM_016292.3(TRAP1):c.1945G>A (p.Ala649Thr)	DNASE1, TRAP1 (A649T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2395227	NM_016292.3(TRAP1):c.1973G>A (p.Arg658His)	DNASE1, TRAP1 (R658H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363964	NM_016292.3(TRAP1):c.1411G>A (p.Glu471Lys)	DNASE1, TRAP1 (E418K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2359778	NM_016292.3(TRAP1):c.1883C>T (p.Ala628Val)	DNASE1, TRAP1 (A575V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332119	NM_016292.3(TRAP1):c.1717T>G (p.Cys573Gly)	DNASE1, TRAP1 (C520G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314999	NM_016292.3(TRAP1):c.2027C>T (p.Ala676Val)	DNASE1, TRAP1 (A623V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312659	NM_005223.4(DNASE1):c.280G>C (p.Gly94Arg)	DNASE1 (G94R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296666	NM_016292.3(TRAP1):c.1574T>C (p.Leu525Pro)	DNASE1, TRAP1 (L472P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290252	NM_016292.3(TRAP1):c.1559A>C (p.Lys520Thr)	DNASE1, TRAP1 (K520T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258793	NM_005223.4(DNASE1):c.53A>C (p.Gln18Pro)	DNASE1 (Q18P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2206039	NM_005223.4(DNASE1):c.119A>G (p.Asn40Ser)	DNASE1 (N40S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2196491	NM_016292.3(TRAP1):c.1713C>T (p.Ala571=)	DNASE1, TRAP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2196490	NM_016292.3(TRAP1):c.1822G>T (p.Ala608Ser)	DNASE1, TRAP1 (A555S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2191382	NM_016292.3(TRAP1):c.1923G>A (p.Thr641=)	DNASE1, TRAP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2177956	NM_016292.3(TRAP1):c.1753T>C (p.Trp585Arg)	TRAP1, DNASE1 (W532R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2176920	NM_016292.3(TRAP1):c.1390A>G (p.Ile464Val)	DNASE1, TRAP1 (I464V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2121200	NM_016292.3(TRAP1):c.1795-12C>A	DNASE1, TRAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2099806	NM_016292.3(TRAP1):c.2014-15C>T	DNASE1, TRAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2093921	NM_016292.3(TRAP1):c.1570-12G>C	TRAP1, DNASE1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2084344	NM_016292.3(TRAP1):c.1847G>T (p.Gly616Val)	DNASE1, TRAP1 (G616V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2082925	NM_016292.3(TRAP1):c.1418C>T (p.Ser473Leu)	DNASE1, TRAP1 (S473L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2082582	NM_016292.3(TRAP1):c.2108G>A (p.Arg703Gln)	DNASE1, TRAP1 (R650Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2082413	NM_016292.3(TRAP1):c.1459G>A (p.Ala487Thr)	DNASE1, TRAP1 (A487T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2080344	NM_016292.3(TRAP1):c.1681GAG[1] (p.Glu562del)	DNASE1, TRAP1 (E562del +1 more)	Microsatellite (inframe_deletion +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2079374	NM_016292.3(TRAP1):c.1471C>T (p.Arg491Trp)	DNASE1, TRAP1 (R438W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2068257	NM_016292.3(TRAP1):c.1636A>C (p.Lys546Gln)	DNASE1, TRAP1 (K493Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2067106	NM_016292.3(TRAP1):c.1912C>A (p.Leu638Met)	DNASE1, TRAP1 (L638M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2066766	NM_016292.3(TRAP1):c.1744C>T (p.Leu582Phe)	DNASE1, TRAP1 (L529F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2055138	NM_016292.3(TRAP1):c.2040T>C (p.Ala680=)	DNASE1, TRAP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2046458	NM_016292.3(TRAP1):c.1504G>A (p.Ala502Thr)	DNASE1, TRAP1 (A502T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

<< First< Prev

Page of 3