"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "DNASE1"[ge - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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)	DNASE1-related condition +1 more	GBenign/Likely benign
Select item 1284907	NM_005223.4(DNASE1):c.567C>T (p.Gly189=)	DNASE1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely 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 +1 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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 2646127	NM_016292.3(TRAP1):c.1431C>T (p.Ser477=)	DNASE1, TRAP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 3024595	GRCh37/hg19 16p13.3(chr16:2990033-4837646)x1	ADCY9, ANKS3 +52 more	Copy number loss	not provided	GPathogenic

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Items: 20