ClinVar for MedGen (Select 413399) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2443067	NM_178452.6(DNAAF1):c.2143dup (p.Asp715fs)	DNAAF1 (D479fs +1 more)	Duplication (frameshift variant)	Primary ciliary dyskinesia 13	GUncertain significance
Select item 2440893	NM_178452.6(DNAAF1):c.125-5T>C	DNAAF1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 13	GUncertain significance
Select item 1704393	NM_178452.6(DNAAF1):c.1202T>C (p.Val401Ala)	DNAAF1 (V165A +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 13	GUncertain significance
Select item 1438430	NM_178452.6(DNAAF1):c.603G>C (p.Gln201His)	DNAAF1 (Q201H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 1275741	NM_178452.6(DNAAF1):c.2049_2056del (p.Ala684fs)	DNAAF1 (A448fs +1 more)	Deletion (frameshift variant)	Primary ciliary dyskinesia 13	GUncertain significance
Select item 1031307	NM_178452.6(DNAAF1):c.423A>G (p.Ile141Met)	DNAAF1 (I141M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 13	GUncertain significance
Select item 1012300	NM_178452.6(DNAAF1):c.1930A>T (p.Arg644Ter)	DNAAF1 (R408* +1 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 13	GPathogenic
Select item 1012299	NM_178452.6(DNAAF1):c.1496del (p.Pro499fs)	DNAAF1 (P263fs +1 more)	Deletion (frameshift variant)	Primary ciliary dyskinesia 13	GPathogenic
Select item 935653	NM_178452.6(DNAAF1):c.1853G>A (p.Arg618Gln)	DNAAF1 (R382Q +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 887678	NM_178452.6(DNAAF1):c.1528+12G>A	DNAAF1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 887677	NM_178452.6(DNAAF1):c.1528+11C>T	DNAAF1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 887676	NM_178452.6(DNAAF1):c.1528+4A>G	DNAAF1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 13	GUncertain significance
Select item 887619	NM_178452.6(DNAAF1):c.767C>T (p.Pro256Leu)	DNAAF1 (P4L +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 887618	NM_178452.6(DNAAF1):c.733C>T (p.Pro245Ser)	DNAAF1 (P245S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 887490	NM_178452.6(DNAAF1):c.1400C>A (p.Thr467Asn)	DNAAF1 (T231N +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 13	GUncertain significance
Select item 887489	NM_178452.6(DNAAF1):c.1375G>A (p.Asp459Asn)	DNAAF1 (D223N +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 13	GUncertain significance
Select item 886428	NM_178452.6(DNAAF1):c.149G>A (p.Cys50Tyr)	DNAAF1 (C50Y)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 13	GUncertain significance
Select item 886427	NM_178452.6(DNAAF1):c.100G>A (p.Ala34Thr)	DNAAF1 (A34T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 13	GUncertain significance
Select item 886426	NM_178452.6(DNAAF1):c.65C>T (p.Pro22Leu)	DNAAF1 (P22L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 13	GUncertain significance
Select item 886425	NM_178452.6(DNAAF1):c.-66T>C	DNAAF1	Single nucleotide variant (5 prime UTR variant)	Primary ciliary dyskinesia 13	GBenign
Select item 885467	NM_178452.6(DNAAF1):c.1847C>T (p.Ala616Val)	DNAAF1 (A616V +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 885466	NM_178452.6(DNAAF1):c.1747A>G (p.Ser583Gly)	DNAAF1 (S347G +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 13	GUncertain significance
Select item 885405	NM_178452.6(DNAAF1):c.1098C>T (p.Pro366=)	DNAAF1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 13	GUncertain significance
Select item 884530	NM_178452.6(DNAAF1):c.1735T>C (p.Leu579=)	DNAAF1	Single nucleotide variant (synonymous variant)	DNAAF1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 884467	NM_178452.6(DNAAF1):c.1031-11T>G	DNAAF1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 884466	NM_178452.6(DNAAF1):c.997G>A (p.Glu333Lys)	DNAAF1 (E333K +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 13	GUncertain significance
Select item 846924	NM_178452.6(DNAAF1):c.2155T>C (p.Phe719Leu)	DNAAF1 (F483L +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 845510	NM_178452.6(DNAAF1):c.362G>A (p.Arg121His)	DNAAF1 (R121H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 838501	NM_178452.6(DNAAF1):c.1994G>A (p.Cys665Tyr)	DNAAF1 (C665Y +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 13 +1 more	GUncertain significance
Select item 701164	NM_178452.6(DNAAF1):c.361C>T (p.Arg121Cys)	DNAAF1 (R121C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GBenign/Likely benign
Select item 696593	NM_178452.6(DNAAF1):c.684G>A (p.Ser228=)	DNAAF1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 13 +1 more	GConflicting classifications of pathogenicity
Select item 696289	NM_178452.6(DNAAF1):c.2065+5G>A	DNAAF1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 640693	NM_178452.6(DNAAF1):c.1259C>G (p.Thr420Ser)	DNAAF1 (T184S +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 636348	NM_178452.6(DNAAF1):c.1187G>T (p.Gly396Val)	DNAAF1 (G396V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 565781	NM_178452.6(DNAAF1):c.1948C>A (p.Leu650Ile)	DNAAF1 (L650I +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 547852	NM_178452.6(DNAAF1):c.1196C>T (p.Pro399Leu)	DNAAF1 (P399L +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 13	GUncertain significance
Select item 525500	NM_178452.6(DNAAF1):c.2079C>T (p.Ser693=)	DNAAF1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 13 +2 more	GConflicting classifications of pathogenicity
Select item 525404	NM_178452.6(DNAAF1):c.1300_1322del (p.Gly434fs)	DNAAF1 (G434fs +1 more)	Deletion (frameshift variant)	Primary ciliary dyskinesia 13 +2 more	GPathogenic/Likely pathogenic
Select item 525293	NM_178452.6(DNAAF1):c.223G>A (p.Ala75Thr)	DNAAF1 (A75T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 13 +1 more	GUncertain significance
Select item 493193	NM_178452.6(DNAAF1):c.765C>G (p.Asn255Lys)	DNAAF1 (N255K +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 13 +2 more	GUncertain significance
Select item 454995	NM_178452.6(DNAAF1):c.1012del (p.Arg338fs)	DNAAF1 (R86fs +1 more)	Deletion (frameshift variant)	Primary ciliary dyskinesia 13 +1 more	GPathogenic/Likely pathogenic
Select item 416067	NM_178452.6(DNAAF1):c.1300G>A (p.Gly434Arg)	DNAAF1 (G434R +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 416066	NM_178452.6(DNAAF1):c.1506G>A (p.Pro502=)	DNAAF1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 410282	NM_178452.6(DNAAF1):c.1033G>C (p.Glu345Gln)	DNAAF1 (E345Q +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 402597	NM_178452.6(DNAAF1):c.1205A>T (p.Glu402Val)	DNAAF1 (E402V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 320784	NM_001243156.2(TAF1C):c.*1033A>G	DNAAF1, TAF1C	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 13	GLikely benign
Select item 320782	NM_001243156.2(TAF1C):c.*1084A>G	DNAAF1, TAF1C	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 13	GUncertain significance
Select item 320781	NM_178452.6(DNAAF1):c.2070G>A (p.Pro690=)	DNAAF1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 13 +1 more	GConflicting classifications of pathogenicity
Select item 320780	NM_178452.6(DNAAF1):c.2061_2063dup (p.Pro688dup)	DNAAF1	Duplication (inframe_insertion)	Primary ciliary dyskinesia +2 more	GUncertain significance
Select item 320779	NM_178452.6(DNAAF1):c.1838C>A (p.Thr613Asn)	DNAAF1 (T613N +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 320778	NM_178452.6(DNAAF1):c.1728C>T (p.Ile576=)	DNAAF1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 13	GUncertain significance
Select item 320777	NM_178452.6(DNAAF1):c.1664A>T (p.Asp555Val)	DNAAF1 (D555V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 320776	NM_178452.6(DNAAF1):c.1573G>A (p.Glu525Lys)	DNAAF1 (E525K +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 13	GUncertain significance
Select item 320775	NM_178452.6(DNAAF1):c.1528+13G>A	DNAAF1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 13	GUncertain significance
Select item 320774	NM_178452.6(DNAAF1):c.1423C>T (p.Leu475=)	DNAAF1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 320773	NM_178452.6(DNAAF1):c.1245C>G (p.Thr415=)	DNAAF1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 13 +2 more	GConflicting classifications of pathogenicity
Select item 320772	NM_178452.6(DNAAF1):c.1173G>A (p.Pro391=)	DNAAF1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 13 +1 more	GConflicting classifications of pathogenicity
Select item 320771	NM_178452.6(DNAAF1):c.1083C>T (p.Gly361=)	DNAAF1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 320770	NM_178452.6(DNAAF1):c.995A>C (p.Glu332Ala)	DNAAF1 (E332A +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 13	GUncertain significance
Select item 320769	NM_178452.6(DNAAF1):c.842G>T (p.Arg281Ile)	DNAAF1 (R281I +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 13	GUncertain significance
Select item 320768	NM_178452.6(DNAAF1):c.514C>G (p.Leu172Val)	DNAAF1 (L172V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 13	GUncertain significance
Select item 320767	NM_178452.6(DNAAF1):c.312T>G (p.Ile104Met)	DNAAF1 (I104M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 13 +1 more	GUncertain significance
Select item 320766	NM_178452.6(DNAAF1):c.285A>T (p.Lys95Asn)	DNAAF1 (K95N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 13 +1 more	GUncertain significance
Select item 320765	NM_178452.6(DNAAF1):c.181C>G (p.Gln61Glu)	DNAAF1 (Q61E)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 13	GUncertain significance
Select item 320763	NM_178452.6(DNAAF1):c.-100G>A	DNAAF1, LOC130059566	Single nucleotide variant (5 prime UTR variant)	Primary ciliary dyskinesia 13	GUncertain significance
Select item 320762	NM_178452.6(DNAAF1):c.-128G>C	DNAAF1, LOC130059566	Single nucleotide variant (5 prime UTR variant)	Primary ciliary dyskinesia 13	GUncertain significance
Select item 286678	NM_178452.6(DNAAF1):c.1567G>A (p.Val523Ile)	DNAAF1 (V523I +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 262958	NM_178452.6(DNAAF1):c.736G>A (p.Asp246Asn)	DNAAF1 (D246N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GBenign/Likely benign
Select item 262957	NM_178452.6(DNAAF1):c.685C>T (p.His229Tyr)	DNAAF1 (H229Y)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GBenign/Likely benign
Select item 262955	NM_178452.6(DNAAF1):c.507G>C (p.Leu169=)	DNAAF1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 262952	NM_178452.6(DNAAF1):c.352+17G>C	DNAAF1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 262951	NM_178452.6(DNAAF1):c.303G>C (p.Lys101Asn)	DNAAF1 (K101N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GBenign/Likely benign
Select item 262950	NM_178452.6(DNAAF1):c.2107G>A (p.Gly703Arg)	DNAAF1 (G703R +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GBenign/Likely benign
Select item 262946	NM_178452.6(DNAAF1):c.1750G>A (p.Asp584Asn)	DNAAF1 (D584N +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 262943	NM_178452.6(DNAAF1):c.1616T>C (p.Leu539Pro)	DNAAF1 (L539P +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 262941	NM_178452.6(DNAAF1):c.1496C>T (p.Pro499Leu)	DNAAF1 (P499L +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 262939	NM_178452.6(DNAAF1):c.1299C>T (p.Asp433=)	DNAAF1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 262938	NM_178452.6(DNAAF1):c.1227T>G (p.Gly409=)	DNAAF1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 262935	NM_178452.6(DNAAF1):c.1030+14C>T	DNAAF1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 262933	NM_001243156.2(TAF1C):c.*1064G>A	DNAAF1, TAF1C	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GBenign
Select item 262932	NM_001243156.2(TAF1C):c.*1082A>G	DNAAF1, TAF1C	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 242166	NM_178452.6(DNAAF1):c.768G>A (p.Pro256=)	DNAAF1	Single nucleotide variant (synonymous variant)	DNAAF1-related disorder +2 more	GLikely benign
Select item 242165	NM_178452.6(DNAAF1):c.619C>G (p.Leu207Val)	DNAAF1 (L207V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 242164	NM_178452.6(DNAAF1):c.2134C>G (p.Pro712Ala)	DNAAF1 (P712A +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 242161	NM_178452.6(DNAAF1):c.2082C>T (p.Ala694=)	DNAAF1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 13 +1 more	GConflicting classifications of pathogenicity
Select item 242159	NM_178452.6(DNAAF1):c.1698+1G>A	DNAAF1	Single nucleotide variant (splice donor variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 242158	NM_178452.6(DNAAF1):c.1495C>A (p.Pro499Thr)	DNAAF1 (P499T +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 13 +2 more	GConflicting classifications of pathogenicity
Select item 242157	NM_178452.6(DNAAF1):c.1350G>A (p.Pro450=)	DNAAF1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 242156	NM_178452.6(DNAAF1):c.1031-5A>T	DNAAF1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 13 +2 more	GConflicting classifications of pathogenicity
Select item 226576	NM_178452.6(DNAAF1):c.1848G>A (p.Ala616=)	DNAAF1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 13 +3 more	GBenign
Select item 226575	NM_178452.6(DNAAF1):c.1505C>T (p.Pro502Leu)	DNAAF1 (P502L +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 13 +3 more	GBenign
Select item 226574	NM_178452.6(DNAAF1):c.1303G>A (p.Asp435Asn)	DNAAF1 (D435N +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 13 +3 more	GBenign/Likely benign
Select item 226573	NM_178452.6(DNAAF1):c.1296G>C (p.Glu432Asp)	DNAAF1 (E432D +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +3 more	GBenign
Select item 226572	NM_178452.6(DNAAF1):c.1178A>G (p.Lys393Arg)	DNAAF1 (K393R +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 226571	NM_178452.6(DNAAF1):c.1161C>G (p.Asp387Glu)	DNAAF1 (D387E +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 226570	NM_178452.6(DNAAF1):c.1077G>A (p.Ala359=)	DNAAF1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +3 more	GBenign
Select item 220579	NM_178452.6(DNAAF1):c.1377T>A (p.Asp459Glu)	DNAAF1 (D459E +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 13 +1 more	GBenign/Likely benign
Select item 216831	NM_178452.6(DNAAF1):c.1354C>A (p.Pro452Thr)	DNAAF1 (P452T +1 more)	Single nucleotide variant (missense variant)	DNAAF1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 178720	NM_178452.6(DNAAF1):c.988C>A (p.Arg330=)	DNAAF1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 166997	NM_178452.6(DNAAF1):c.546C>G (p.Asn182Lys)	DNAAF1 (N182K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity

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