TRAP1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC125146383, LOC125146384 +556 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 58620	GRCh38/hg38 16p13.3(chr16:2717952-4041020)x3	ADCY9, BICDL2 +180 more	Copy number gain	See cases	GPathogenic
Select item 59428	GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1	ADCY9, ALG1 +262 more	Copy number loss	See cases	GPathogenic
Select item 151030	GRCh38/hg38 16p13.3(chr16:3061267-3666094)x3	C16orf90, CLUAP1 +101 more	Copy number gain	See cases	GUncertain significance
Select item 149298	GRCh38/hg38 16p13.3(chr16:3303551-3965374)x3	ADCY9, C16orf90 +50 more	Copy number gain	See cases	GLikely pathogenic
Select item 58621	GRCh38/hg38 16p13.3(chr16:3493167-3993345)x3	ADCY9, C16orf90 +29 more	Copy number gain	See cases	GPathogenic
Select item 2499642	GRCh38/hg38 16p13.3(chr16:3499966-3774794)	CLUAP1, CREBBP +18 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 152247	GRCh38/hg38 16p13.3(chr16:3515534-3749385)x3	CLUAP1, CREBBP +15 more	Copy number gain	See cases	GUncertain significance
Select item 148879	GRCh38/hg38 16p13.3(chr16:3560564-4266796)x1	ADCY9, CREBBP +35 more	Copy number loss	See cases	GPathogenic
Select item 59429	GRCh38/hg38 16p13.3(chr16:3607087-3877320)x1	CREBBP, DNASE1 +13 more	Copy number loss	See cases	GPathogenic
Select item 1684659	NC_000016.10:g.3619617_4448281del	LOC125146386, LOC130058361 +40 more	Deletion	See cases	GPathogenic
Select item 150258	GRCh38/hg38 16p13.3(chr16:3654628-3666082)x1	DNASE1, TRAP1	Copy number loss	See cases	GLikely benign
Select item 150217	GRCh38/hg38 16p13.3(chr16:3657043-3666082)x1	DNASE1, TRAP1	Copy number loss	See cases	GLikely benign
Select item 1928195	NM_016292.3(TRAP1):c.2101_*5del (p.Leu701fs)	DNASE1, TRAP1 (L648fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 720753	NM_016292.3(TRAP1):c.2115A>C (p.Ter705Cys)	DNASE1, TRAP1	Single nucleotide variant (stop lost)	not provided	GBenign
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 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 488976	NM_016292.3(TRAP1):c.2107C>T (p.Arg703Ter)	DNASE1, TRAP1 (R703* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
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 559144	NM_016292.3(TRAP1):c.2075G>A (p.Arg692His)	DNASE1, TRAP1 (R692H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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 418524	NM_016292.3(TRAP1):c.2053G>A (p.Asp685Asn)	DNASE1, TRAP1 (D685N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 559145	NM_016292.3(TRAP1):c.2052C>T (p.Asp684=)	DNASE1, TRAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3328509	NM_016292.3(TRAP1):c.2041G>A (p.Gly681Arg)	DNASE1, TRAP1 (G681R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 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 1430823	NM_016292.3(TRAP1):c.2020G>C (p.Glu674Gln)	DNASE1, TRAP1 (E621Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 807976	NM_016292.3(TRAP1):c.2014-7C>T	DNASE1, TRAP1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely 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 2099806	NM_016292.3(TRAP1):c.2014-15C>T	DNASE1, TRAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1259645	NM_016292.3(TRAP1):c.2014-52del	DNASE1, TRAP1	Deletion (intron variant)	not specified +1 more	GBenign
Select item 1295671	NM_016292.3(TRAP1):c.2013+227C>T	DNASE1, TRAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225170	NM_016292.3(TRAP1):c.2013+103GTTT[5]	DNASE1, TRAP1	Microsatellite (intron variant)	not provided	GBenign
Select item 1584668	NM_016292.3(TRAP1):c.2013+15_2013+27del	DNASE1, TRAP1	Deletion (intron variant)	not provided	GBenign
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 1633410	NM_016292.3(TRAP1):c.1974C>T (p.Arg658=)	DNASE1, TRAP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 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 1599630	NM_016292.3(TRAP1):c.1940+11G>A	DNASE1, TRAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3351598	NM_016292.3(TRAP1):c.1938_1940+8dup	DNASE1, TRAP1	Duplication (intron variant +1 more)	TRAP1-related disorder	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 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 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 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 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 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 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 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 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 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 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 1359787	NM_016292.3(TRAP1):c.1855C>T (p.Arg619Cys)	DNASE1, TRAP1 (R619C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 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 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 2196490	NM_016292.3(TRAP1):c.1822G>T (p.Ala608Ser)	DNASE1, TRAP1 (A555S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 734841	NM_016292.3(TRAP1):c.1805G>A (p.Arg602Gln)	DNASE1, TRAP1 (R602Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 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 2121200	NM_016292.3(TRAP1):c.1795-12C>A	DNASE1, TRAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1636069	NM_016292.3(TRAP1):c.1795-16C>T	DNASE1, TRAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1503514	NM_016292.3(TRAP1):c.1795-16C>A	DNASE1, TRAP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1915508	NM_016292.3(TRAP1):c.1794+13C>T	DNASE1, TRAP1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
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 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 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 1960132	NM_016292.3(TRAP1):c.1778G>A (p.Arg593His)	DNASE1, TRAP1 (R593H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 2177956	NM_016292.3(TRAP1):c.1753T>C (p.Trp585Arg)	DNASE1, TRAP1 (W532R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1915746	NM_016292.3(TRAP1):c.1748T>C (p.Met583Thr)	DNASE1, TRAP1 (M583T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 591784	NM_016292.3(TRAP1):c.1728_1729del (p.Lys577fs)	DNASE1, TRAP1 (K524fs +1 more)	Microsatellite (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1450662	NM_016292.3(TRAP1):c.1721T>C (p.Leu574Pro)	DNASE1, TRAP1 (L521P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 3328510	NM_016292.3(TRAP1):c.1715A>T (p.Glu572Val)	DNASE1, TRAP1 (E519V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 559146	NM_016292.3(TRAP1):c.1714G>A (p.Glu572Lys)	TRAP1, DNASE1 (E572K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 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 1896208	NM_016292.3(TRAP1):c.1709-11C>A	DNASE1, TRAP1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1569366	NM_016292.3(TRAP1):c.1708+12C>T	DNASE1, TRAP1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
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 3328512	NM_016292.3(TRAP1):c.1703C>T (p.Ser568Phe)	DNASE1, TRAP1 (S515F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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	GUncertain significance
Select item 1670311	NM_016292.3(TRAP1):c.1665C>T (p.Val555=)	DNASE1, TRAP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 1903431	NM_016292.3(TRAP1):c.1656G>A (p.Thr552=)	DNASE1, TRAP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 provided +1 more	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 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 1948803	NM_016292.3(TRAP1):c.1619G>C (p.Arg540Pro)	DNASE1, TRAP1 (R487P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1943105	NM_016292.3(TRAP1):c.1619G>A (p.Arg540His)	TRAP1, DNASE1 (R487H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1521576	NM_016292.3(TRAP1):c.1618C>T (p.Arg540Cys)	DNASE1, TRAP1 (R540C +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 3328507	NM_016292.3(TRAP1):c.1612C>G (p.His538Asp)	DNASE1, TRAP1 (H538D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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