DNASE1[gene] and "single gene"[properties] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 specified +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 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 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 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

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Items: 45