"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "DNAAF2" - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1792434	NM_018139.3(DNAAF2):c.2514A>G (p.Ter838=)	DNAAF2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1150110	NM_018139.3(DNAAF2):c.2505T>C (p.Asp835=)	DNAAF2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1895757	NM_018139.3(DNAAF2):c.2503G>T (p.Asp835Tyr)	DNAAF2 (D835Y +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2899113	NM_018139.3(DNAAF2):c.2499A>G (p.Leu833=)	DNAAF2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1589402	NM_018139.3(DNAAF2):c.2490T>C (p.Asn830=)	DNAAF2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2132829	NM_018139.3(DNAAF2):c.2489del (p.Asn830fs)	DNAAF2 (N93fs +2 more)	Deletion (frameshift variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1150694	NM_018139.3(DNAAF2):c.2475A>G (p.Ala825=)	DNAAF2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1560719	NM_018139.3(DNAAF2):c.2460T>C (p.His820=)	DNAAF2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 844675	NM_018139.3(DNAAF2):c.2449A>G (p.Ile817Val)	DNAAF2 (I817V +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2150489	NM_018139.3(DNAAF2):c.2446G>A (p.Val816Ile)	DNAAF2 (V816I +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 454906	NM_018139.3(DNAAF2):c.2440G>T (p.Val814Leu)	DNAAF2 (V814L +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 579614	NM_018139.3(DNAAF2):c.2429A>G (p.Gln810Arg)	DNAAF2 (Q810R +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 803024	NM_018139.3(DNAAF2):c.2428C>T (p.Gln810Ter)	DNAAF2 (Q762* +2 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 1959072	NM_018139.3(DNAAF2):c.2426T>G (p.Met809Arg)	DNAAF2 (M761R +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1502916	NM_018139.3(DNAAF2):c.2416G>T (p.Glu806Ter)	DNAAF2 (E69* +2 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GUncertain significance
Select item 416621	NM_018139.3(DNAAF2):c.2415A>G (p.Lys805=)	DNAAF2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1038111	NM_018139.3(DNAAF2):c.2393T>C (p.Ile798Thr)	DNAAF2 (I750T +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 313275	NM_018139.3(DNAAF2):c.2388C>T (p.His796=)	DNAAF2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 313276	NM_018139.3(DNAAF2):c.2381C>T (p.Thr794Met)	DNAAF2 (T794M +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 2981230	NM_018139.3(DNAAF2):c.2373C>T (p.Asn791=)	DNAAF2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2159775	NM_018139.3(DNAAF2):c.2338G>A (p.Glu780Lys)	DNAAF2 (E732K +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 566666	NM_018139.3(DNAAF2):c.2338G>C (p.Glu780Gln)	DNAAF2 (E780Q +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 699227	NM_018139.3(DNAAF2):c.2331A>G (p.Glu777=)	DNAAF2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 572820	NM_018139.3(DNAAF2):c.2324T>A (p.Ile775Lys)	DNAAF2 (I775K +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 944119	NM_018139.3(DNAAF2):c.2314G>A (p.Glu772Lys)	DNAAF2 (E35K +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 747396	NM_018139.3(DNAAF2):c.2313C>T (p.Asn771=)	DNAAF2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2078806	NM_018139.3(DNAAF2):c.2307_2311del (p.Asn769fs)	DNAAF2 (N32fs +2 more)	Deletion (frameshift variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 163091	NM_018139.3(DNAAF2):c.2303A>G (p.Asp768Gly)	DNAAF2, MGAT2 (D768G +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 10 +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 2188864	NM_018139.3(DNAAF2):c.2269G>T (p.Glu757Ter)	DNAAF2 (E709* +2 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GUncertain significance
Select item 2814624	NM_018139.3(DNAAF2):c.2211A>G (p.Gln737=)	DNAAF2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1083122	NM_018139.3(DNAAF2):c.2205T>A (p.Val735=)	DNAAF2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 701117	NM_018139.3(DNAAF2):c.2196T>C (p.Ser732=)	DNAAF2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 411171	NM_018139.3(DNAAF2):c.2191G>C (p.Glu731Gln)	DNAAF2 (E731Q +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 215525	NM_018139.3(DNAAF2):c.2187A>G (p.Gln729=)	DNAAF2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GBenign
Select item 454903	NM_018139.3(DNAAF2):c.2178A>G (p.Thr726=)	DNAAF2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 241282	NM_018139.3(DNAAF2):c.2176A>G (p.Thr726Ala)	DNAAF2 (T726A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 416623	NM_018139.3(DNAAF2):c.2163C>T (p.Ser721=)	DNAAF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2190133	NM_018139.3(DNAAF2):c.2148A>C (p.Ala716=)	DNAAF2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 761139	NM_018139.3(DNAAF2):c.2139A>C (p.Ala713=)	DNAAF2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 454902	NM_018139.3(DNAAF2):c.2134A>G (p.Ile712Val)	DNAAF2 (I712V +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2126975	NM_018139.3(DNAAF2):c.2125G>T (p.Asp709Tyr)	DNAAF2 (D709Y +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2141539	NM_018139.3(DNAAF2):c.2108C>A (p.Thr703Asn)	DNAAF2 (T655N +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 497978	NM_018139.3(DNAAF2):c.2106C>T (p.Asn702=)	DNAAF2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2063015	NM_018139.3(DNAAF2):c.2102G>T (p.Cys701Phe)	DNAAF2 (C653F +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2911085	NM_018139.3(DNAAF2):c.2092A>G (p.Ile698Val)	DNAAF2 (I698V +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2913975	NM_018139.3(DNAAF2):c.2046G>A (p.Lys682=)	DNAAF2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2805049	NM_018139.3(DNAAF2):c.2035C>T (p.Leu679=)	DNAAF2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 954209	NM_018139.3(DNAAF2):c.2027_2028del (p.Asn675_Ser676insTer)	DNAAF2	Microsatellite (nonsense +1 more)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 454901	NM_018139.3(DNAAF2):c.2008-10C>T	DNAAF2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2081610	NM_018139.3(DNAAF2):c.2008-12C>G	DNAAF2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2790747	NM_018139.3(DNAAF2):c.2008-19G>A	DNAAF2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2728628	NM_018139.3(DNAAF2):c.2007+10T>C	DNAAF2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1980023	NM_018139.3(DNAAF2):c.2007+6G>A	DNAAF2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 570282	NM_018139.3(DNAAF2):c.2007+5G>A	DNAAF2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3014834	NM_018139.3(DNAAF2):c.2001T>C (p.Asn667=)	DNAAF2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1448671	NM_018139.3(DNAAF2):c.1983T>A (p.Asp661Glu)	DNAAF2 (D661E)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 411167	NM_018139.3(DNAAF2):c.1969C>T (p.Leu657Phe)	DNAAF2 (L657F)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 10 +1 more	GConflicting classifications of pathogenicity
Select item 642250	NM_018139.3(DNAAF2):c.1960A>G (p.Ile654Val)	DNAAF2 (I654V)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1407894	NM_018139.3(DNAAF2):c.1954C>G (p.Pro652Ala)	DNAAF2 (P652A)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
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 1977707	NM_018139.3(DNAAF2):c.1949C>T (p.Thr650Ile)	DNAAF2 (T650I)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 704381	NM_018139.3(DNAAF2):c.1947G>A (p.Leu649=)	DNAAF2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2413657	NM_018139.3(DNAAF2):c.1944C>G (p.Ser648=)	DNAAF2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 940540	NM_018139.3(DNAAF2):c.1939A>G (p.Met647Val)	DNAAF2 (M647V)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1374801	NM_018139.3(DNAAF2):c.1931_1932delinsGT (p.Lys644Ser)	DNAAF2 (K644S)	Indel (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 743059	NM_018139.3(DNAAF2):c.1926A>C (p.Pro642=)	DNAAF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2194154	NM_018139.3(DNAAF2):c.1914C>T (p.Val638=)	DNAAF2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2715867	NM_018139.3(DNAAF2):c.1911G>A (p.Glu637=)	DNAAF2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2114540	NM_018139.3(DNAAF2):c.1906G>T (p.Glu636Ter)	DNAAF2 (E636*)	Single nucleotide variant (intron variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2753002	NM_018139.3(DNAAF2):c.1895_1898del (p.Asn632fs)	DNAAF2 (N632fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 1450701	NM_018139.3(DNAAF2):c.1891G>A (p.Val631Ile)	DNAAF2 (V631I)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 738076	NM_018139.3(DNAAF2):c.1887A>G (p.Glu629=)	DNAAF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1557621	NM_018139.3(DNAAF2):c.1864-9_1864-8del	DNAAF2	Deletion (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1646300	NM_018139.3(DNAAF2):c.1864-13C>G	DNAAF2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2161664	NM_018139.3(DNAAF2):c.1863+19G>A	DNAAF2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 261016	NM_018139.3(DNAAF2):c.1863+16A>G	DNAAF2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +2 more	GBenign
Select item 2074886	NM_018139.3(DNAAF2):c.1856C>T (p.Ser619Phe)	DNAAF2 (S619F)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
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 1414447	NM_018139.3(DNAAF2):c.1841G>A (p.Gly614Asp)	DNAAF2 (G614D)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 880867	NM_018139.3(DNAAF2):c.1825A>G (p.Arg609Gly)	DNAAF2 (R609G)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 1448813	NM_018139.3(DNAAF2):c.1813C>T (p.His605Tyr)	DNAAF2 (H605Y)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2879328	NM_018139.3(DNAAF2):c.1812C>T (p.Ser604=)	DNAAF2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 241281	NM_018139.3(DNAAF2):c.1795G>A (p.Ala599Thr)	DNAAF2 (A599T)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 1661635	NM_018139.3(DNAAF2):c.1785G>A (p.Val595=)	DNAAF2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 880868	NM_018139.3(DNAAF2):c.1781C>T (p.Ala594Val)	DNAAF2 (A594V)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 10 +1 more	GConflicting classifications of pathogenicity
Select item 1989398	NM_018139.3(DNAAF2):c.1779T>C (p.Asn593=)	DNAAF2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 880869	NM_018139.3(DNAAF2):c.1719A>G (p.Gln573=)	DNAAF2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 10 +1 more	GUncertain significance
Select item 1376094	NM_018139.3(DNAAF2):c.1692A>T (p.Gln564His)	DNAAF2 (Q564H)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1917955	NM_018139.3(DNAAF2):c.1689A>C (p.Ala563=)	DNAAF2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	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 +1 more	GConflicting classifications of pathogenicity
Select item 698393	NM_018139.3(DNAAF2):c.1674A>G (p.Lys558=)	DNAAF2, LOC130055541	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1969733	NM_018139.3(DNAAF2):c.1652A>T (p.Asp551Val)	DNAAF2, LOC130055541 (D551V)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1479316	NM_018139.3(DNAAF2):c.1643T>G (p.Leu548Arg)	DNAAF2, LOC130055541 (L548R)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2916024	NM_018139.3(DNAAF2):c.1638_1639del (p.Leu548fs)	DNAAF2, LOC130055541 (L548fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2715702	NM_018139.3(DNAAF2):c.1635G>T (p.Pro545=)	DNAAF2, LOC130055541	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2188312	NM_018139.3(DNAAF2):c.1634C>T (p.Pro545Leu)	DNAAF2, LOC130055541 (P545L)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1989692	NM_018139.3(DNAAF2):c.1634C>G (p.Pro545Arg)	DNAAF2, LOC130055541 (P545R)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	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

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