ClinVar for Gene (Select 55172) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3234972	NM_018139.3(DNAAF2):c.751dup (p.Thr251fs)	DNAAF2 (T251fs)	Duplication (frameshift variant)	Primary ciliary dyskinesia 10	GLikely pathogenic
Select item 3227126	NM_018139.3(DNAAF2):c.2069G>T (p.Ser690Ile)	DNAAF2 (S642I +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3227125	NM_018139.3(DNAAF2):c.1880A>G (p.Asn627Ser)	DNAAF2 (N627S)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3227124	NM_018139.3(DNAAF2):c.174G>A (p.Ala58=)	DNAAF2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3083336	NM_018139.3(DNAAF2):c.959T>G (p.Leu320Arg)	DNAAF2 (L320R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3083335	NM_018139.3(DNAAF2):c.736T>G (p.Leu246Val)	DNAAF2 (L246V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083333	NM_018139.3(DNAAF2):c.397G>C (p.Gly133Arg)	DNAAF2 (G133R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083332	NM_018139.3(DNAAF2):c.368A>G (p.Tyr123Cys)	DNAAF2 (Y123C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083331	NM_018139.3(DNAAF2):c.2423A>G (p.Asn808Ser)	DNAAF2 (N71S +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083330	NM_018139.3(DNAAF2):c.2353C>A (p.His785Asn)	DNAAF2 (H48N +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083329	NM_018139.3(DNAAF2):c.1888A>T (p.Asn630Tyr)	DNAAF2 (N630Y)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083328	NM_018139.3(DNAAF2):c.1811G>A (p.Ser604Asn)	DNAAF2 (S604N)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083327	NM_018139.3(DNAAF2):c.1606C>G (p.Leu536Val)	DNAAF2 (L536V)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083326	NM_018139.3(DNAAF2):c.1442C>T (p.Ala481Val)	DNAAF2 (A481V)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083325	NM_018139.3(DNAAF2):c.1292G>A (p.Arg431His)	DNAAF2, LOC130055542 (R431H)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083324	NM_018139.3(DNAAF2):c.1054G>A (p.Ala352Thr)	DNAAF2 (A352T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3023783	NM_018139.3(DNAAF2):c.1069_1102dup (p.Glu368fs)	DNAAF2, LOC130055542 (E368fs)	Duplication (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 3020121	NM_018139.3(DNAAF2):c.1176G>A (p.Arg392=)	DNAAF2, LOC130055542	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
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 3008541	NM_018139.3(DNAAF2):c.600G>A (p.Val200=)	DNAAF2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3008540	NM_018139.3(DNAAF2):c.1389T>C (p.Gly463=)	DNAAF2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2986822	NM_018139.3(DNAAF2):c.311G>A (p.Arg104Gln)	DNAAF2 (R104Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2982396	NM_018139.3(DNAAF2):c.12G>A (p.Ala4=)	DNAAF2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
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 2976775	NM_018139.3(DNAAF2):c.705G>A (p.Gly235=)	DNAAF2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2963335	NM_018139.3(DNAAF2):c.1443G>A (p.Ala481=)	DNAAF2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2962012	NM_018139.3(DNAAF2):c.1218G>A (p.Gly406=)	DNAAF2, LOC130055542	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2917278	NM_018139.3(DNAAF2):c.1344G>A (p.Pro448=)	DNAAF2, LOC130055542	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2916970	NM_018139.3(DNAAF2):c.675C>T (p.Pro225=)	DNAAF2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2916197	NM_018139.3(DNAAF2):c.882G>C (p.Ser294=)	DNAAF2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
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 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 2911487	NM_018139.3(DNAAF2):c.719C>A (p.Ser240Tyr)	DNAAF2 (S240Y)	Single nucleotide variant (missense variant)	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 2907013	NM_018139.3(DNAAF2):c.1068G>A (p.Glu356=)	DNAAF2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2906856	NM_018139.3(DNAAF2):c.678C>T (p.Tyr226=)	DNAAF2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
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 2881010	NM_018139.3(DNAAF2):c.1166dup (p.Pro390fs)	DNAAF2, LOC130055542 (P390fs)	Duplication (frameshift variant +1 more)	Primary ciliary dyskinesia	GPathogenic
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 2871499	NM_018139.3(DNAAF2):c.810C>T (p.Cys270=)	DNAAF2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2848635	NM_018139.3(DNAAF2):c.396G>C (p.Ala132=)	DNAAF2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2821039	NM_018139.3(DNAAF2):c.754G>T (p.Glu252Ter)	DNAAF2 (E252*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic
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 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 2796634	NM_018139.3(DNAAF2):c.882G>T (p.Ser294=)	DNAAF2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2791227	NM_018139.3(DNAAF2):c.505C>T (p.Leu169=)	DNAAF2	Single nucleotide variant (synonymous 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 2778423	NM_018139.3(DNAAF2):c.1515del (p.Ser506fs)	DNAAF2 (S506fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2776291	NM_018139.3(DNAAF2):c.1605T>G (p.Thr535=)	DNAAF2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
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 2740232	NM_018139.3(DNAAF2):c.465G>A (p.Arg155=)	DNAAF2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2739088	NM_018139.3(DNAAF2):c.1398C>T (p.Gly466=)	DNAAF2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2737541	NM_018139.3(DNAAF2):c.1044G>A (p.Val348=)	DNAAF2	Single nucleotide variant (synonymous 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 2728499	NM_018139.3(DNAAF2):c.237C>T (p.Arg79=)	DNAAF2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2724469	NM_018139.3(DNAAF2):c.321C>G (p.Ser107=)	DNAAF2	Single nucleotide variant (synonymous variant)	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 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 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2683949	NM_018139.3(DNAAF2):c.1807G>T (p.Glu603Ter)	DNAAF2 (E603*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia 10	GLikely pathogenic
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 2625516	NM_018139.3(DNAAF2):c.489G>A (p.Met163Ile)	DNAAF2 (M163I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2622706	NM_018139.3(DNAAF2):c.1763G>C (p.Ser588Thr)	DNAAF2 (S588T)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2622635	NM_018139.3(DNAAF2):c.740A>C (p.Gln247Pro)	DNAAF2 (Q247P)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2618843	NM_018139.3(DNAAF2):c.337G>A (p.Ala113Thr)	DNAAF2 (A113T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2613466	NM_018139.3(DNAAF2):c.1526C>T (p.Ala509Val)	DNAAF2 (A509V)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2581148	NM_018139.3(DNAAF2):c.1208G>A (p.Cys403Tyr)	DNAAF2, LOC130055542 (C403Y)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	Gnot provided
Select item 2570445	NM_018139.3(DNAAF2):c.519G>C (p.Glu173Asp)	DNAAF2 (E173D)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2563339	NM_018139.3(DNAAF2):c.1885G>A (p.Glu629Lys)	DNAAF2 (E629K)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2563338	NM_018139.3(DNAAF2):c.1638A>G (p.Gln546=)	DNAAF2, LOC130055541	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2552341	NM_018139.3(DNAAF2):c.2180G>T (p.Cys727Phe)	DNAAF2 (C679F +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2549774	NM_018139.3(DNAAF2):c.643G>A (p.Gly215Arg)	DNAAF2 (G215R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2536323	NM_018139.3(DNAAF2):c.2207C>T (p.Ser736Phe)	DNAAF2 (S736F +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2512940	NM_018139.3(DNAAF2):c.1385C>G (p.Pro462Arg)	DNAAF2 (P462R)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2493912	NM_018139.3(DNAAF2):c.418A>C (p.Met140Leu)	DNAAF2 (M140L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2488947	NM_018139.3(DNAAF2):c.406A>G (p.Ser136Gly)	DNAAF2 (S136G)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2465967	NM_018139.3(DNAAF2):c.1505G>A (p.Gly502Asp)	DNAAF2 (G502D)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2457162	NM_018139.3(DNAAF2):c.510G>T (p.Glu170Asp)	DNAAF2 (E170D)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2448399	NM_018139.3(DNAAF2):c.1056C>T (p.Ala352=)	DNAAF2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
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 2442010	NM_018139.3(DNAAF2):c.1054_1087del (p.Ala352fs)	DNAAF2, LOC130055542 (A352fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 10	GPathogenic
Select item 2428675	NM_018139.3(DNAAF2):c.1119C>T (p.Ser373=)	DNAAF2, LOC130055542	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 10 +1 more	GLikely benign
Select item 2419760	NM_018139.3(DNAAF2):c.1400C>T (p.Ser467Phe)	DNAAF2 (S467F)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
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 2392739	NM_018139.3(DNAAF2):c.703G>A (p.Gly235Arg)	DNAAF2 (G235R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2385319	NM_018139.3(DNAAF2):c.1243C>G (p.Leu415Val)	DNAAF2, LOC130055542 (L415V)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2316910	NM_018139.3(DNAAF2):c.646G>C (p.Glu216Gln)	DNAAF2 (E216Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2312972	NM_018139.3(DNAAF2):c.124G>A (p.Glu42Lys)	DNAAF2 (E42K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2311391	NM_018139.3(DNAAF2):c.973C>G (p.Pro325Ala)	DNAAF2 (P325A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2309717	NM_018139.3(DNAAF2):c.71C>T (p.Thr24Ile)	DNAAF2 (T24I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2305304	NM_018139.3(DNAAF2):c.340G>T (p.Ala114Ser)	DNAAF2 (A114S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2274338	NM_018139.3(DNAAF2):c.427G>C (p.Asp143His)	DNAAF2 (D143H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2261714	NM_018139.3(DNAAF2):c.1201G>A (p.Asp401Asn)	DNAAF2, LOC130055542 (D401N)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2252342	NM_018139.3(DNAAF2):c.86A>T (p.Asp29Val)	DNAAF2 (D29V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
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 2190450	NM_018139.3(DNAAF2):c.895G>C (p.Ala299Pro)	DNAAF2 (A299P)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
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 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 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 2182623	NM_018139.3(DNAAF2):c.830G>A (p.Ser277Asn)	DNAAF2 (S277N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance

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