C0008780[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 344235	NM_181426.2(CCDC39):c.*802AGT[1]	CCDC39, TTC14	Microsatellite (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 344237	NM_181426.2(CCDC39):c.*753G>A	TTC14, CCDC39	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 344242	NM_181426.2(CCDC39):c.*545dup	CCDC39, TTC14	Duplication (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 344247	NM_181426.2(CCDC39):c.*532dup	CCDC39, TTC14	Duplication (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 344246	NM_181426.2(CCDC39):c.530_532dup	CCDC39, TTC14	Duplication (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 344245	NM_181426.2(CCDC39):c.531_532dup	CCDC39, TTC14	Duplication (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 344249	NM_181426.2(CCDC39):c.*529dup	CCDC39, TTC14	Duplication (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 344248	NM_181426.2(CCDC39):c.529_530insACC	CCDC39, TTC14	Insertion (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 262972	NM_181426.2(CCDC39):c.2823A>G (p.Lys941=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 344260	NM_181426.2(CCDC39):c.2715A>G (p.Lys905=)	TTC14, CCDC39	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 242174	NM_181426.2(CCDC39):c.2669+6C>T	CCDC39, TTC14	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +2 more	GBenign
Select item 344261	NM_181426.2(CCDC39):c.2626C>T (p.Arg876Cys)	CCDC39, TTC14 (R876C)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 455022	NM_181426.2(CCDC39):c.2615C>A (p.Thr872Lys)	CCDC39, TTC14 (T872K)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 14 +2 more	GUncertain significance
Select item 455021	NM_181426.2(CCDC39):c.2558G>A (p.Arg853His)	CCDC39, TTC14 (R853H)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 14 +1 more	GConflicting classifications of pathogenicity
Select item 228476	NM_181426.2(CCDC39):c.2557C>T (p.Arg853Cys)	CCDC39, TTC14 (R853C)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 14 +2 more	GConflicting classifications of pathogenicity
Select item 900397	NM_181426.2(CCDC39):c.2549C>G (p.Thr850Ser)	CCDC39, TTC14 (T850S)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 194907	NM_181426.2(CCDC39):c.2534T>C (p.Ile845Thr)	CCDC39, TTC14 (I845T)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 14 +3 more	GConflicting classifications of pathogenicity
Select item 900462	NM_181426.2(CCDC39):c.2526A>G (p.Leu842=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 162838	NM_181426.2(CCDC39):c.2432G>A (p.Arg811His)	CCDC39, TTC14 (R811H)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 14 +3 more	GBenign/Likely benign
Select item 525460	NM_181426.2(CCDC39):c.2409T>C (p.Cys803=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 262970	NM_181426.2(CCDC39):c.2408G>A (p.Cys803Tyr)	CCDC39, TTC14 (C803Y)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +2 more	GBenign/Likely benign
Select item 900463	NM_181426.2(CCDC39):c.2407-8A>T	CCDC39, TTC14	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 162839	NM_181426.2(CCDC39):c.2397G>A (p.Val799=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia +3 more	GBenign
Select item 162840	NM_181426.2(CCDC39):c.2301G>A (p.Leu767=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia +3 more	GBenign
Select item 219954	NM_181426.2(CCDC39):c.2299T>C (p.Leu767=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 14 +3 more	GConflicting classifications of pathogenicity
Select item 902127	NM_181426.2(CCDC39):c.2291T>C (p.Ile764Thr)	CCDC39, TTC14 (I764T)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 226484	NM_181426.2(CCDC39):c.2278A>G (p.Thr760Ala)	TTC14, CCDC39 (T760A)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign
Select item 902128	NM_181426.2(CCDC39):c.2266-5T>C	CCDC39, TTC14	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 14 +2 more	GConflicting classifications of pathogenicity
Select item 162841	NM_181426.2(CCDC39):c.2230C>G (p.Gln744Glu)	CCDC39 (Q744E)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 14 +3 more	GBenign
Select item 344262	NM_181426.2(CCDC39):c.2079C>T (p.Tyr693=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 14 +1 more	GConflicting classifications of pathogenicity
Select item 344263	NM_181426.2(CCDC39):c.1960G>A (p.Gly654Arg)	CCDC39 (G654R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 14 +1 more	GUncertain significance
Select item 667082	NM_181426.2(CCDC39):c.1954C>T (p.Pro652Ser)	CCDC39 (P652S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 14 +2 more	GConflicting classifications of pathogenicity
Select item 262966	NM_181426.2(CCDC39):c.1896A>G (p.Leu632=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 14 +2 more	GConflicting classifications of pathogenicity
Select item 410380	NM_181426.2(CCDC39):c.1885C>T (p.Arg629Cys)	CCDC39 (R629C)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 242171	NM_181426.2(CCDC39):c.1865A>G (p.Glu622Gly)	CCDC39 (E622G)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 344264	NM_181426.2(CCDC39):c.1833G>A (p.Ala611=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 14 +1 more	GConflicting classifications of pathogenicity
Select item 344265	NM_181426.2(CCDC39):c.1818T>C (p.His606=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 242170	NM_181426.2(CCDC39):c.1781C>T (p.Thr594Ile)	CCDC39 (T594I)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 344266	NM_181426.2(CCDC39):c.1728C>T (p.His576=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 853208	NM_181426.2(CCDC39):c.1528-3C>T	CCDC39	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 226483	NM_181426.2(CCDC39):c.1433A>G (p.Gln478Arg)	CCDC39 (Q478R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 14 +3 more	GBenign/Likely benign
Select item 344267	NM_181426.2(CCDC39):c.1363-23dup	CCDC39	Duplication (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 344268	NM_181426.2(CCDC39):c.1363-13del	CCDC39	Deletion (intron variant)	Primary ciliary dyskinesia 14 +1 more	GBenign/Likely benign
Select item 344269	NM_181426.2(CCDC39):c.1362+13T>C	CCDC39	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 14 +1 more	GConflicting classifications of pathogenicity
Select item 344270	NM_181426.2(CCDC39):c.1359C>A (p.Ser453Arg)	CCDC39 (S453R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 14 +1 more	GUncertain significance
Select item 162842	NM_181426.2(CCDC39):c.1359C>T (p.Ser453=)	CCDC39	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 162843	NM_181426.2(CCDC39):c.1248A>G (p.Glu416=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +3 more	GBenign
Select item 344271	NM_181426.2(CCDC39):c.1198G>T (p.Gly400Cys)	CCDC39 (G400C)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 697611	NM_181426.2(CCDC39):c.1176T>C (p.Asp392=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 14 +1 more	GConflicting classifications of pathogenicity
Select item 900519	NM_181426.2(CCDC39):c.1137T>C (p.Asp379=)	CCDC39	Single nucleotide variant (synonymous variant)	CCDC39-related condition +2 more	GConflicting classifications of pathogenicity
Select item 344272	NM_181426.2(CCDC39):c.1102A>G (p.Met368Val)	CCDC39 (M368V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 14 +1 more	GUncertain significance
Select item 166806	NM_181426.2(CCDC39):c.1073C>T (p.Thr358Ile)	CCDC39 (T358I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 14 +3 more	GConflicting classifications of pathogenicity
Select item 344273	NM_181426.2(CCDC39):c.1034+11A>G	CCDC39	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 14 +1 more	GConflicting classifications of pathogenicity
Select item 262960	NM_181426.2(CCDC39):c.1008G>A (p.Lys336=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +2 more	GBenign/Likely benign
Select item 262978	NM_181426.2(CCDC39):c.930+12C>G	CCDC39	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 14 +3 more	GBenign
Select item 262977	NM_181426.2(CCDC39):c.900T>A (p.His300Gln)	CCDC39 (H300Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 695450	NM_181426.2(CCDC39):c.885G>A (p.Thr295=)	CCDC39	Single nucleotide variant (synonymous variant)	CCDC39-related condition +2 more	GConflicting classifications of pathogenicity
Select item 344274	NM_181426.2(CCDC39):c.880A>G (p.Arg294Gly)	CCDC39 (R294G)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 344275	NM_181426.2(CCDC39):c.863G>A (p.Arg288His)	CCDC39 (R288H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 14 +1 more	GConflicting classifications of pathogenicity
Select item 242176	NM_181426.2(CCDC39):c.830_831del (p.Thr277fs)	CCDC39 (T277fs)	Microsatellite (frameshift variant)	Primary ciliary dyskinesia +2 more	GPathogenic/Likely pathogenic
Select item 344276	NM_181426.2(CCDC39):c.821G>A (p.Gly274Glu)	CCDC39 (G274E)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 344277	NM_181426.2(CCDC39):c.654T>C (p.Asn218=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GConflicting classifications of pathogenicity
Select item 344278	NM_181426.2(CCDC39):c.640C>T (p.Arg214Cys)	CCDC39 (R214C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 14 +1 more	GUncertain significance
Select item 262974	NM_181426.2(CCDC39):c.604G>A (p.Ala202Thr)	CCDC39 (A202T)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 902179	NM_181426.2(CCDC39):c.551A>C (p.Glu184Ala)	CCDC39 (E184A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 455025	NM_181426.2(CCDC39):c.547T>C (p.Leu183=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 14 +1 more	GConflicting classifications of pathogenicity
Select item 162844	NM_181426.2(CCDC39):c.545C>G (p.Thr182Ser)	CCDC39 (T182S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GBenign
Select item 226485	NM_181426.2(CCDC39):c.472C>G (p.Leu158Val)	CCDC39 (L158V)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 344279	NM_181426.2(CCDC39):c.396G>A (p.Leu132=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 525295	NM_181426.2(CCDC39):c.307C>T (p.Arg103Trp)	CCDC39 (R103W)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 221189	NM_181426.2(CCDC39):c.233G>A (p.Arg78His)	CCDC39 (R78H)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 344280	NM_181426.2(CCDC39):c.210+4C>T	CCDC39	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 344281	NM_181426.2(CCDC39):c.68A>C (p.Glu23Ala)	CCDC39 (E23A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 344282	NM_181426.2(CCDC39):c.42G>A (p.Gly14=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 14 +1 more	GConflicting classifications of pathogenicity
Select item 344284	NM_181426.1(CCDC39):c.-110C>T	CCDC39	Single nucleotide variant	Primary ciliary dyskinesia	GUncertain significance
Select item 344285	NM_181426.1(CCDC39):c.-111C>T	CCDC39	Single nucleotide variant	Primary ciliary dyskinesia	GUncertain significance
Select item 350918	NM_001369.3(DNAH5):c.13817C>A (p.Ala4606Asp)	DNAH5 (A4606D)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 219653	NM_001369.3(DNAH5):c.13778C>T (p.Thr4593Met)	DNAH5 (T4593M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +2 more	GConflicting classifications of pathogenicity
Select item 238964	NM_001369.3(DNAH5):c.13775G>A (p.Arg4592Gln)	DNAH5 (R4592Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 350994	NM_001369.3(DNAH5):c.13672A>G (p.Lys4558Glu)	DNAH5 (K4558E)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 577261	NM_001369.3(DNAH5):c.13591G>A (p.Glu4531Lys)	DNAH5 (E4531K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 163131	NM_001369.3(DNAH5):c.13569C>A (p.Asp4523Glu)	DNAH5 (D4523E)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +2 more	GConflicting classifications of pathogenicity
Select item 903679	NM_001369.3(DNAH5):c.13492-11G>T	DNAH5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 3 +1 more	GConflicting classifications of pathogenicity
Select item 238963	NM_001369.3(DNAH5):c.13467G>A (p.Gln4489=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +2 more	GBenign/Likely benign
Select item 226595	NM_001369.3(DNAH5):c.13462C>A (p.Pro4488Thr)	DNAH5 (P4488T)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 350995	NM_001369.3(DNAH5):c.13458dup (p.Asn4487Ter)	DNAH5 (N4487*)	Duplication (nonsense)	Primary ciliary dyskinesia +2 more	GPathogenic/Likely pathogenic
Select item 454744	NM_001369.3(DNAH5):c.13448C>T (p.Thr4483Met)	DNAH5 (T4483M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +2 more	GConflicting classifications of pathogenicity
Select item 414354	NM_001369.3(DNAH5):c.13437C>T (p.Cys4479=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 905606	NM_001369.3(DNAH5):c.13364G>A (p.Gly4455Asp)	DNAH5 (G4455D)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 178740	NM_001369.3(DNAH5):c.13359A>G (p.Thr4453=)	DNAH5	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 163132	NM_001369.3(DNAH5):c.13348A>G (p.Ile4450Val)	DNAH5 (I4450V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +3 more	GBenign
Select item 238962	NM_001369.3(DNAH5):c.13286G>A (p.Arg4429Gln)	DNAH5 (R4429Q)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 903761	NM_001369.3(DNAH5):c.13255G>C (p.Asp4419His)	DNAH5 (D4419H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +1 more	GConflicting classifications of pathogenicity
Select item 454741	NM_001369.3(DNAH5):c.13175T>G (p.Phe4392Cys)	DNAH5 (F4392C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +1 more	GConflicting classifications of pathogenicity
Select item 351005	NM_001369.3(DNAH5):c.13155A>T (p.Pro4385=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 695812	NM_001369.3(DNAH5):c.13125+10T>A	DNAH5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +1 more	GBenign/Likely benign
Select item 525525	NM_001369.3(DNAH5):c.13073G>A (p.Arg4358Gln)	DNAH5 (R4358Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 351006	NM_001369.3(DNAH5):c.13072C>T (p.Arg4358Trp)	DNAH5 (R4358W)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 226593	NM_001369.3(DNAH5):c.13071C>T (p.Ala4357=)	DNAH5	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 351007	NM_001369.3(DNAH5):c.13070C>G (p.Ala4357Gly)	DNAH5 (A4357G)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +2 more	GConflicting classifications of pathogenicity

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