"PreventionGenetics, part of Exact Sciences"[submitter] AND "DNAAF2"[g - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1560719	NM_018139.3(DNAAF2):c.2460T>C (p.His820=)	DNAAF2	Single nucleotide variant (synonymous variant)	DNAAF2-related disorder +1 more	GLikely benign
Select item 416621	NM_018139.3(DNAAF2):c.2415A>G (p.Lys805=)	DNAAF2	Single nucleotide variant (synonymous variant)	DNAAF2-related disorder +1 more	GLikely benign
Select item 163091	NM_018139.3(DNAAF2):c.2303A>G (p.Asp768Gly)	DNAAF2, MGAT2 (D768G +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
Select item 241282	NM_018139.3(DNAAF2):c.2176A>G (p.Thr726Ala)	DNAAF2 (T726A +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 10 +2 more	GBenign/Likely benign
Select item 261018	NM_018139.3(DNAAF2):c.2007+15G>A	DNAAF2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 195338	NM_018139.3(DNAAF2):c.1953A>G (p.Pro651=)	DNAAF2	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 261017	NM_018139.3(DNAAF2):c.1864-40G>T	DNAAF2	Single nucleotide variant (intron variant)	not provided +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 261015	NM_018139.3(DNAAF2):c.1851C>T (p.Asn617=)	DNAAF2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 10 +2 more	GBenign/Likely benign
Select item 1661635	NM_018139.3(DNAAF2):c.1785G>A (p.Val595=)	DNAAF2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 313277	NM_018139.3(DNAAF2):c.1687G>T (p.Ala563Ser)	DNAAF2 (A563S)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 10 +2 more	GConflicting classifications of pathogenicity
Select item 2631295	NM_018139.3(DNAAF2):c.1676T>A (p.Leu559Ter)	DNAAF2, LOC130055541 (L559*)	Single nucleotide variant (nonsense +1 more)	DNAAF2-related disorder	GLikely pathogenic
Select item 261014	NM_018139.3(DNAAF2):c.1626G>C (p.Arg542=)	DNAAF2, LOC130055541	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 228604	NM_018139.3(DNAAF2):c.1595A>G (p.Glu532Gly)	DNAAF2 (E532G)	Single nucleotide variant (missense variant +1 more)	DNAAF2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 631710	NM_018139.3(DNAAF2):c.1585C>T (p.Gln529Ter)	DNAAF2 (Q529*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia 10 +2 more	GConflicting classifications of pathogenicity
Select item 261013	NM_018139.3(DNAAF2):c.1494G>A (p.Ser498=)	DNAAF2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 10 +3 more	GConflicting classifications of pathogenicity
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 228602	NM_018139.3(DNAAF2):c.1463G>A (p.Gly488Glu)	DNAAF2 (G488E)	Single nucleotide variant (missense variant +1 more)	DNAAF2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 215901	NM_018139.3(DNAAF2):c.1459C>T (p.Arg487Cys)	DNAAF2 (R487C)	Single nucleotide variant (missense variant +1 more)	DNAAF2-related disorder +1 more	GBenign/Likely benign
Select item 219711	NM_018139.3(DNAAF2):c.1406G>A (p.Cys469Tyr)	DNAAF2 (C469Y)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 241280	NM_018139.3(DNAAF2):c.1405T>A (p.Cys469Ser)	DNAAF2 (C469S)	Single nucleotide variant (missense variant +1 more)	DNAAF2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 261012	NM_018139.3(DNAAF2):c.1367C>T (p.Pro456Leu)	DNAAF2 (P456L)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 261010	NM_018139.3(DNAAF2):c.1299C>T (p.Pro433=)	DNAAF2, LOC130055542	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 261009	NM_018139.3(DNAAF2):c.1269G>C (p.Pro423=)	DNAAF2, LOC130055542	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 95891	NM_018139.3(DNAAF2):c.1185G>C (p.Ala395=)	DNAAF2, LOC130055542	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 261008	NM_018139.3(DNAAF2):c.1110G>A (p.Ala370=)	LOC130055542, DNAAF2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 241283	NM_018139.3(DNAAF2):c.824C>T (p.Ala275Val)	DNAAF2 (A275V)	Single nucleotide variant (missense variant)	DNAAF2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2055366	NM_018139.3(DNAAF2):c.820_821del (p.Ala275fs)	DNAAF2 (A275fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely pathogenic
Select item 2448398	NM_018139.3(DNAAF2):c.805C>G (p.Arg269Gly)	DNAAF2 (R269G)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 261022	NM_018139.3(DNAAF2):c.728A>C (p.Glu243Ala)	DNAAF2 (E243A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +3 more	GBenign/Likely benign
Select item 221191	NM_018139.3(DNAAF2):c.707C>T (p.Pro236Leu)	DNAAF2 (P236L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +3 more	GBenign/Likely benign
Select item 261020	NM_018139.3(DNAAF2):c.561C>T (p.Thr187=)	DNAAF2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +2 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 261019	NM_018139.3(DNAAF2):c.384C>A (p.Gly128=)	DNAAF2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 95893	NM_018139.3(DNAAF2):c.186G>C (p.Glu62Asp)	DNAAF2 (E62D)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 226577	NM_018139.3(DNAAF2):c.144C>A (p.Asn48Lys)	DNAAF2 (N48K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GBenign
Select item 261011	NM_018139.3(DNAAF2):c.129C>T (p.Leu43=)	DNAAF2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GBenign/Likely benign
Select item 221190	NM_018139.3(DNAAF2):c.78C>T (p.Ala26=)	DNAAF2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 261021	NM_018139.3(DNAAF2):c.58G>C (p.Val20Leu)	DNAAF2 (V20L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 216704	NM_018139.3(DNAAF2):c.20C>T (p.Ser7Phe)	DNAAF2 (S7F)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 40