DNASE1[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 16851	NM_005223.4(DNASE1):c.13A>T (p.Lys5Ter)	DNASE1 (K5*)	Single nucleotide variant (nonsense +2 more)	Systemic lupus erythematosus, susceptibility to	Grisk factor
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 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 1677322	NM_005223.4(DNASE1):c.80C>T (p.Ala27Val)	DNASE1 (A27V)	Single nucleotide variant (missense variant +2 more)	not provided	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 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 2206039	NM_005223.4(DNASE1):c.119A>G (p.Asn40Ser)	DNASE1 (N40S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 3049024	NM_005223.4(DNASE1):c.126C>T (p.Thr42=)	DNASE1 (P3L)	Single nucleotide variant (synonymous variant +2 more)	DNASE1-related disorder	GLikely benign
Select item 3044569	NM_005223.4(DNASE1):c.168C>T (p.Ile56=)	DNASE1	Single nucleotide variant (synonymous variant +2 more)	DNASE1-related disorder	GLikely benign
Select item 3380365	NM_005223.4(DNASE1):c.171_226dup (p.Asn76delinsThrTrpSerArgArgSerGluThrAlaThrTer)	DNASE1	Duplication (nonsense +2 more)	not provided	GUncertain significance
Select item 3357702	NM_005223.4(DNASE1):c.233A>C (p.Asn78Thr)	DNASE1 (N78T)	Single nucleotide variant (missense variant +2 more)	DNASE1-related disorder	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 1694785	NM_005223.4(DNASE1):c.300G>A (p.Glu100=)	DNASE1	Single nucleotide variant (synonymous 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 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 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 3048522	NM_005223.4(DNASE1):c.378C>T (p.Cys126=)	DNASE1	Single nucleotide variant (synonymous variant +1 more)	DNASE1-related disorder	GLikely benign
Select item 973637	NM_005223.4(DNASE1):c.379G>A (p.Gly127Arg)	DNASE1 (G127R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1704361	NM_005223.4(DNASE1):c.385G>A (p.Asp129Asn)	DNASE1 (D129N +1 more)	Single nucleotide variant (missense variant +1 more)	Systemic lupus erythematosus	GUncertain significance
Select item 3380366	NM_005223.4(DNASE1):c.398G>T (p.Arg133Leu)	DNASE1 (R133L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 3337041	NM_005223.4(DNASE1):c.410T>C (p.Ile137Thr)	DNASE1 (I137T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1678190	NM_005223.4(DNASE1):c.437-20C>T	DNASE1	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
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 3239490	NM_005223.4(DNASE1):c.453C>T (p.Ala151=)	DNASE1	Single nucleotide variant (synonymous variant +1 more)	not provided	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 disorder	GBenign
Select item 150217	GRCh38/hg38 16p13.3(chr16:3657043-3666082)x1	DNASE1, TRAP1	Copy number loss	See cases	GLikely benign
Select item 3375023	NM_005223.4(DNASE1):c.499G>A (p.Asp167Asn)	DNASE1 (D167N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3041007	NM_005223.4(DNASE1):c.501C>T (p.Asp167=)	DNASE1	Single nucleotide variant (synonymous variant +1 more)	DNASE1-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 disorder	GBenign
Select item 3239206	NM_005223.4(DNASE1):c.543C>T (p.Gly181=)	DNASE1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 3024903	NM_005223.4(DNASE1):c.553G>A (p.Val185Ile)	DNASE1 (V116I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1284907	NM_005223.4(DNASE1):c.567C>T (p.Gly189=)	DNASE1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
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 252650	NM_005223.4(DNASE1):c.619C>T (p.Arg207Cys)	DNASE1 (R207C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 776971	NM_005223.4(DNASE1):c.624G>A (p.Leu208=)	DNASE1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 764585	NM_005223.4(DNASE1):c.639C>T (p.Thr213=)	DNASE1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 disorder	GLikely benign
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 3273146	NM_005223.4(DNASE1):c.671C>G (p.Thr224Ser)	DNASE1 (T224S +2 more)	Single nucleotide variant (missense variant +1 more)	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 1176639	NM_005223.4(DNASE1):c.712G>A (p.Val238Ile)	DNASE1 (V169I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 16852	NM_005223.4(DNASE1):c.731G>A (p.Arg244Gln)	DNASE1 (R244Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GBenign
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 712625	NM_005223.4(DNASE1):c.747C>T (p.Pro249=)	DNASE1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2646125	NM_005223.4(DNASE1):c.780C>A (p.Ala260=)	DNASE1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 807975	NM_005223.4(DNASE1):c.813_832del (p.Ser272fs)	DNASE1 (S272fs +2 more)	Deletion (frameshift variant +2 more)	not provided	GUncertain significance
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 provided +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

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