DNASE1L3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57386	GRCh38/hg38 3p21.1-14.1(chr3:54045018-66060461)x1	ABHD6, ACOX2 +218 more	Copy number loss	See cases	GPathogenic
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	HTD2, HTR1F +482 more	Copy number loss	See cases	GPathogenic
Select item 150755	GRCh38/hg38 3p14.3-14.1(chr3:57430538-64884522)x1	ABHD6, ACOX2 +155 more	Copy number loss	See cases	GPathogenic
Select item 57729	GRCh38/hg38 3p14.3(chr3:57911290-58409928)x3	ABHD6, DNASE1L3 +30 more	Copy number gain	See cases	GUncertain significance
Select item 1521920	NM_004944.4(DNASE1L3):c.918G>T (p.Ter306Tyr)	DNASE1L3	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 2181609	NM_004944.4(DNASE1L3):c.910C>T (p.Arg304Cys)	DNASE1L3 (R274C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3273149	NM_004944.4(DNASE1L3):c.906C>G (p.Ser302Arg)	DNASE1L3 (S272R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1969371	NM_004944.4(DNASE1L3):c.903G>C (p.Lys301Asn)	DNASE1L3 (K301N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2725388	NM_004944.4(DNASE1L3):c.900A>G (p.Thr300=)	DNASE1L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2606930	NM_004944.4(DNASE1L3):c.876A>T (p.Lys292Asn)	DNASE1L3 (K292N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2778270	NM_004944.4(DNASE1L3):c.860T>C (p.Phe287Ser)	DNASE1L3 (F257S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1355726	NM_004944.4(DNASE1L3):c.854G>A (p.Arg285Lys)	DNASE1L3 (R255K +1 more)	Single nucleotide variant (missense variant)	Autosomal systemic lupus erythematosus type 16 +1 more	GUncertain significance
Select item 2868013	NM_004944.4(DNASE1L3):c.852A>G (p.Ser284=)	DNASE1L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1358539	NM_004944.4(DNASE1L3):c.815G>C (p.Ser272Thr)	DNASE1L3 (S272T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976230	NM_004944.4(DNASE1L3):c.813C>T (p.Val271=)	DNASE1L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1484433	NM_004944.4(DNASE1L3):c.803C>G (p.Ala268Gly)	DNASE1L3 (A238G +1 more)	Single nucleotide variant (missense variant)	Autosomal systemic lupus erythematosus type 16 +1 more	GUncertain significance
Select item 1438673	NM_004944.4(DNASE1L3):c.802-3T>C	DNASE1L3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2032631	NM_004944.4(DNASE1L3):c.802-6T>A	DNASE1L3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2114827	NM_004944.4(DNASE1L3):c.802-9T>G	DNASE1L3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2051946	NM_004944.4(DNASE1L3):c.802-15C>G	DNASE1L3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1542326	NM_004944.4(DNASE1L3):c.802-18T>C	DNASE1L3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1932021	NM_004944.4(DNASE1L3):c.802-20C>G	DNASE1L3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2688407	NM_004944.4(DNASE1L3):c.801+42A>G	DNASE1L3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1652167	NM_004944.4(DNASE1L3):c.801+17G>C	DNASE1L3	Single nucleotide variant (intron variant)	Autosomal systemic lupus erythematosus type 16 +1 more	GLikely benign
Select item 2071183	NM_004944.4(DNASE1L3):c.801+14C>T	DNASE1L3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1651728	NM_004944.4(DNASE1L3):c.801+10C>A	DNASE1L3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2797883	NM_004944.4(DNASE1L3):c.801+7T>A	DNASE1L3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2088259	NM_004944.4(DNASE1L3):c.801+4A>G	DNASE1L3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1481549	NM_004944.4(DNASE1L3):c.800A>G (p.Glu267Gly)	DNASE1L3 (E237G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1415760	NM_004944.4(DNASE1L3):c.798G>C (p.Glu266Asp)	DNASE1L3 (E236D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1508421	NM_004944.4(DNASE1L3):c.782A>C (p.Tyr261Ser)	DNASE1L3 (Y231S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 732363	NM_004944.4(DNASE1L3):c.782A>G (p.Tyr261Cys)	DNASE1L3 (Y261C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 720102	NM_004944.4(DNASE1L3):c.777A>G (p.Lys259=)	DNASE1L3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1996832	NM_004944.4(DNASE1L3):c.768C>A (p.Asp256Glu)	DNASE1L3 (D256E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1350297	NM_004944.4(DNASE1L3):c.754_757del (p.Asn252fs)	DNASE1L3 (N222fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1995729	NM_004944.4(DNASE1L3):c.745C>A (p.Pro249Thr)	DNASE1L3 (P249T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1388385	NM_004944.4(DNASE1L3):c.730G>A (p.Val244Ile)	DNASE1L3 (V244I +1 more)	Single nucleotide variant (missense variant)	Autosomal systemic lupus erythematosus type 16 +1 more	GUncertain significance
Select item 1957480	NM_004944.4(DNASE1L3):c.729C>T (p.Ile243=)	DNASE1L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1518065	NM_004944.4(DNASE1L3):c.729C>G (p.Ile243Met)	DNASE1L3 (I213M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1924702	NM_004944.4(DNASE1L3):c.722A>G (p.Gln241Arg)	DNASE1L3 (Q211R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1497239	NM_004944.4(DNASE1L3):c.715A>G (p.Arg239Gly)	DNASE1L3 (R239G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2994624	NM_004944.4(DNASE1L3):c.711G>A (p.Val237=)	DNASE1L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1400382	NM_004944.4(DNASE1L3):c.709G>C (p.Val237Leu)	DNASE1L3 (V207L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 726852	NM_004944.4(DNASE1L3):c.705-3C>T	DNASE1L3	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1662438	NM_004944.4(DNASE1L3):c.705-14_705-8del	DNASE1L3	Deletion (intron variant)	not provided	GLikely benign
Select item 3008433	NM_004944.4(DNASE1L3):c.705-10C>T	DNASE1L3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2132432	NM_004944.4(DNASE1L3):c.705-12C>T	DNASE1L3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1560795	NM_004944.4(DNASE1L3):c.704+18G>T	DNASE1L3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010985	NM_004944.4(DNASE1L3):c.704+10C>A	DNASE1L3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1476713	NM_004944.4(DNASE1L3):c.704+4G>A	DNASE1L3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2099879	NM_004944.4(DNASE1L3):c.699T>C (p.Tyr233=)	DNASE1L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1486876	NM_004944.4(DNASE1L3):c.689A>G (p.Asn230Ser)	DNASE1L3 (N200S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1530168	NM_004944.4(DNASE1L3):c.684C>T (p.Ser228=)	DNASE1L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2157194	NM_004944.4(DNASE1L3):c.672G>A (p.Thr224=)	DNASE1L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1485490	NM_004944.4(DNASE1L3):c.671C>T (p.Thr224Met)	DNASE1L3 (T224M +1 more)	Single nucleotide variant (missense variant)	Autosomal systemic lupus erythematosus type 16 +1 more	GUncertain significance
Select item 2119297	NM_004944.4(DNASE1L3):c.661G>C (p.Glu221Gln)	DNASE1L3 (E191Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2961592	NM_004944.4(DNASE1L3):c.654G>A (p.Gly218=)	DNASE1L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2175309	NM_004944.4(DNASE1L3):c.651C>T (p.Ile217=)	DNASE1L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1492758	NM_004944.4(DNASE1L3):c.651C>A (p.Ile217=)	DNASE1L3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1536083	NM_004944.4(DNASE1L3):c.646C>T (p.Leu216=)	DNASE1L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 30256	NM_004944.4(DNASE1L3):c.643del (p.Trp215fs)	DNASE1L3 (W185fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1628875	NM_004944.4(DNASE1L3):c.636G>A (p.Arg212=)	DNASE1L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2306451	NM_004944.4(DNASE1L3):c.631C>G (p.Pro211Ala)	DNASE1L3 (P211A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1927438	NM_004944.4(DNASE1L3):c.617G>A (p.Arg206His)	DNASE1L3 (R176H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1146799	NM_004944.4(DNASE1L3):c.616C>T (p.Arg206Cys)	DNASE1L3 (R176C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1355837	NM_004944.4(DNASE1L3):c.601G>A (p.Ala201Thr)	DNASE1L3 (A201T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2124688	NM_004944.4(DNASE1L3):c.596A>G (p.Lys199Arg)	DNASE1L3 (K199R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2114624	NM_004944.4(DNASE1L3):c.596del (p.Lys199fs)	DNASE1L3 (K199fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2795815	NM_004944.4(DNASE1L3):c.591C>T (p.Val197=)	DNASE1L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1554679	NM_004944.4(DNASE1L3):c.588C>T (p.Tyr196=)	DNASE1L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007830	NM_004944.4(DNASE1L3):c.584G>A (p.Ser195Asn)	DNASE1L3 (S165N +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2090151	NM_004944.4(DNASE1L3):c.580T>G (p.Cys194Gly)	DNASE1L3 (C164G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1005755	NM_004944.4(DNASE1L3):c.577G>A (p.Gly193Ser)	DNASE1L3 (G163S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1991894	NM_004944.4(DNASE1L3):c.576C>T (p.Ala192=)	DNASE1L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3248531	NM_004944.4(DNASE1L3):c.572A>G (p.Asn191Ser)	DNASE1L3 (N161S +1 more)	Single nucleotide variant (missense variant)	Autosomal systemic lupus erythematosus type 16	GPathogenic
Select item 741116	NM_004944.4(DNASE1L3):c.567C>T (p.Asp189=)	DNASE1L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1953791	NM_004944.4(DNASE1L3):c.564T>C (p.Gly188=)	DNASE1L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1302145	NM_004944.4(DNASE1L3):c.563G>C (p.Gly188Ala)	DNASE1L3 (G158A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1108168	NM_004944.4(DNASE1L3):c.547-4T>C	DNASE1L3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1608753	NM_004944.4(DNASE1L3):c.546+12T>C	DNASE1L3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2177085	NM_004944.4(DNASE1L3):c.546+8C>T	DNASE1L3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1378527	NM_004944.4(DNASE1L3):c.546+6G>T	DNASE1L3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1896893	NM_004944.4(DNASE1L3):c.546+5G>C	DNASE1L3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1167553	NM_004944.4(DNASE1L3):c.546+5G>T	DNASE1L3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 773866	NM_004944.4(DNASE1L3):c.543G>A (p.Ala181=)	DNASE1L3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2813782	NM_004944.4(DNASE1L3):c.541G>A (p.Ala181Thr)	DNASE1L3 (A151T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1339541	NM_004944.4(DNASE1L3):c.537G>A (p.Trp179Ter)	DNASE1L3 (W149* +1 more)	Single nucleotide variant (nonsense)	Autosomal systemic lupus erythematosus type 16	GLikely pathogenic
Select item 1982712	NM_004944.4(DNASE1L3):c.533G>T (p.Arg178Leu)	DNASE1L3 (R148L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2842944	NM_004944.4(DNASE1L3):c.525G>A (p.Val175=)	DNASE1L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2008759	NM_004944.4(DNASE1L3):c.522C>G (p.Asp174Glu)	DNASE1L3 (D174E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1984172	NM_004944.4(DNASE1L3):c.522C>T (p.Asp174=)	DNASE1L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2749037	NM_004944.4(DNASE1L3):c.519G>T (p.Thr173=)	DNASE1L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1460388	NM_004944.4(DNASE1L3):c.519G>A (p.Thr173=)	DNASE1L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 740128	NM_004944.4(DNASE1L3):c.519G>C (p.Thr173=)	DNASE1L3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1586077	NM_004944.4(DNASE1L3):c.516C>T (p.Tyr172=)	DNASE1L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2089386	NM_004944.4(DNASE1L3):c.504G>C (p.Leu168Phe)	DNASE1L3 (L168F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2033925	NM_004944.4(DNASE1L3):c.502T>C (p.Leu168=)	DNASE1L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 732364	NM_004944.4(DNASE1L3):c.501G>A (p.Glu167=)	DNASE1L3	Single nucleotide variant (synonymous variant)	Autosomal systemic lupus erythematosus type 16 +1 more	GBenign/Likely benign
Select item 2716633	NM_004944.4(DNASE1L3):c.496G>C (p.Asp166His)	DNASE1L3 (D136H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1388626	NM_004944.4(DNASE1L3):c.495del (p.Ile165fs)	DNASE1L3 (I165fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic

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