"GeneDx"[submitter] AND "DNAAF2"[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 313245	NM_002408.4(MGAT2):c.-351G>T	DNAAF2, MGAT2	Single nucleotide variant (5 prime UTR variant)	Primary ciliary dyskinesia +3 more	GBenign/Likely benign
Select item 313249	NM_002408.4(MGAT2):c.-234T>C	DNAAF2, MGAT2	Single nucleotide variant (5 prime UTR variant)	Primary ciliary dyskinesia +3 more	GBenign
Select item 313255	NM_002408.4(MGAT2):c.261G>T (p.Leu87=)	DNAAF2, MGAT2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +4 more	GBenign/Likely benign
Select item 1282890	NM_018139.3(DNAAF2):c.*182dup	DNAAF2	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 313273	NM_018139.3(DNAAF2):c.*182del	DNAAF2	Deletion (3 prime UTR variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 313274	NM_018139.3(DNAAF2):c.*126T>A	DNAAF2, MGAT2	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign
Select item 163091	NM_018139.3(DNAAF2):c.2303A>G (p.Asp768Gly)	DNAAF2, MGAT2 (D768G +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 697079	NM_018139.3(DNAAF2):c.2281A>G (p.Thr761Ala)	DNAAF2 (T713A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1707364	NM_018139.3(DNAAF2):c.2008-109G>A	DNAAF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1291128	NM_018139.3(DNAAF2):c.2008-136A>G	DNAAF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262743	NM_018139.3(DNAAF2):c.2007+300T>C	DNAAF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276870	NM_018139.3(DNAAF2):c.2007+235G>A	DNAAF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235921	NM_018139.3(DNAAF2):c.2007+144dup	DNAAF2	Duplication (intron variant)	not provided	GBenign
Select item 1213505	NM_018139.3(DNAAF2):c.2007+157del	DNAAF2	Deletion (intron variant)	not provided	GLikely benign
Select item 1182764	NM_018139.3(DNAAF2):c.2007+91C>T	DNAAF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 195338	NM_018139.3(DNAAF2):c.1953A>G (p.Pro651=)	DNAAF2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 10 +3 more	GConflicting classifications of pathogenicity
Select item 1707327	NM_018139.3(DNAAF2):c.1864-38A>G	DNAAF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 261017	NM_018139.3(DNAAF2):c.1864-40G>T	DNAAF2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 261016	NM_018139.3(DNAAF2):c.1863+16A>G	DNAAF2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 3376081	NM_018139.3(DNAAF2):c.1700T>G (p.Val567Gly)	DNAAF2 (V567G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 261014	NM_018139.3(DNAAF2):c.1626G>C (p.Arg542=)	DNAAF2, LOC130055541	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 95892	NM_018139.3(DNAAF2):c.1482A>G (p.Thr494=)	DNAAF2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 10 +3 more	GBenign
Select item 219711	NM_018139.3(DNAAF2):c.1406G>A (p.Cys469Tyr)	DNAAF2 (C469Y)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 261012	NM_018139.3(DNAAF2):c.1367C>T (p.Pro456Leu)	DNAAF2 (P456L)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +3 more	GBenign/Likely benign
Select item 95891	NM_018139.3(DNAAF2):c.1185G>C (p.Ala395=)	DNAAF2, LOC130055542	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 10 +3 more	GBenign
Select item 3366178	NM_018139.3(DNAAF2):c.1083CGC[2] (p.Ala364_Ala365del)	DNAAF2, LOC130055542	Microsatellite	not provided	GUncertain significance
Select item 261022	NM_018139.3(DNAAF2):c.728A>C (p.Glu243Ala)	DNAAF2 (E243A)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 221191	NM_018139.3(DNAAF2):c.707C>T (p.Pro236Leu)	DNAAF2 (P236L)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 95894	NM_018139.3(DNAAF2):c.498C>T (p.Ala166=)	DNAAF2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 10 +3 more	GBenign
Select item 95893	NM_018139.3(DNAAF2):c.186G>C (p.Glu62Asp)	DNAAF2 (E62D)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 221190	NM_018139.3(DNAAF2):c.78C>T (p.Ala26=)	DNAAF2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 313291	NM_018139.3(DNAAF2):c.-79C>T	DNAAF2	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 1706942	NC_000014.9:g.49635364G>C	DNAAF2	Single nucleotide variant	not provided	GLikely benign
Select item 1279940	NC_000014.9:g.49635373G>C	DNAAF2	Single nucleotide variant	not provided	GBenign
Select item 1200471	NC_000014.9:g.49635394G>C	DNAAF2	Single nucleotide variant	not provided	GLikely benign
Select item 1256815	NC_000014.9:g.49635551G>C	DNAAF2	Single nucleotide variant	not provided	GBenign

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Items: 36