"PreventionGenetics, part of Exact Sciences"[submitter] AND "DNASE1"[g - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 3059079	NM_005223.4(DNASE1):c.528C>G (p.Val176=)	DNASE1	Single nucleotide variant (synonymous variant +1 more)	DNASE1-related condition	GBenign
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 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 16852	NM_005223.4(DNASE1):c.731G>A (p.Arg244Gln)	DNASE1 (R244Q +2 more)	Single nucleotide variant (missense variant +1 more)	DNASE1-related condition +1 more	GBenign
Select item 712625	NM_005223.4(DNASE1):c.747C>T (p.Pro249=)	DNASE1	Single nucleotide variant (synonymous variant +1 more)	DNASE1-related condition +1 more	GBenign/Likely benign
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 2636594	NM_016292.3(TRAP1):c.2057C>G (p.Pro686Arg)	DNASE1, TRAP1 (P633R +1 more)	Single nucleotide variant (missense variant +1 more)	TRAP1-related condition	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 +2 more	GConflicting classifications of pathogenicity
Select item 807976	NM_016292.3(TRAP1):c.2014-7C>T	DNASE1, TRAP1	Single nucleotide variant (intron variant)	TRAP1-related condition +1 more	GBenign/Likely benign
Select item 1633410	NM_016292.3(TRAP1):c.1974C>T (p.Arg658=)	DNASE1, TRAP1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
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 3060936	NM_016292.3(TRAP1):c.1940+8C>T	DNASE1, TRAP1	Single nucleotide variant (intron variant)	TRAP1-related condition	GLikely benign
Select item 734841	NM_016292.3(TRAP1):c.1805G>A (p.Arg602Gln)	DNASE1, TRAP1 (R602Q +1 more)	Single nucleotide variant (missense variant)	TRAP1-related condition +1 more	GLikely benign
Select item 3047096	NM_016292.3(TRAP1):c.1775C>T (p.Ser592Leu)	TRAP1, DNASE1 (S539L +1 more)	Single nucleotide variant (missense variant +1 more)	TRAP1-related condition	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 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 559147	NM_016292.3(TRAP1):c.1406G>A (p.Arg469His)	DNASE1, TRAP1 (R469H +1 more)	Single nucleotide variant (missense variant)	TRAP1-related condition +1 more	GBenign/Likely 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 condition	GLikely benign

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Items: 23