C0008780[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 241940	NM_145038.5(DRC1):c.36G>C (p.Pro12=)	DRC1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +3 more	GBenign/Likely benign
Select item 663966	NM_145038.5(DRC1):c.109dup (p.Gln37fs)	DRC1 (Q37fs)	Duplication (frameshift variant)	Primary ciliary dyskinesia 21 +2 more	GPathogenic/Likely pathogenic
Select item 55840	NM_145038.5(DRC1):c.352C>T (p.Gln118Ter)	DRC1 (Q118*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 21 +2 more	GPathogenic/Likely pathogenic
Select item 407099	NM_145038.5(DRC1):c.421T>G (p.Trp141Gly)	DRC1 (W141G)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 414289	NM_145038.5(DRC1):c.992C>T (p.Thr331Ile)	DRC1 (T331I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 21 +2 more	GBenign/Likely benign
Select item 414283	NM_145038.5(DRC1):c.1067C>T (p.Ala356Val)	DRC1 (A356V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 21 +2 more	GBenign
Select item 695946	NM_145038.5(DRC1):c.1124G>A (p.Arg375His)	DRC1 (R375H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 1374288	NM_145038.5(DRC1):c.1391G>A (p.Arg464His)	DRC1 (R464H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 21 +1 more	GUncertain significance
Select item 407102	NM_145038.5(DRC1):c.1418C>T (p.Ala473Val)	DRC1 (A473V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 21 +3 more	GUncertain significance
Select item 525424	NM_145038.5(DRC1):c.1599+1G>A	DRC1	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia 21 +1 more	GLikely pathogenic
Select item 454984	NM_145038.5(DRC1):c.1913A>C (p.Lys638Thr)	DRC1 (K638T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 948125	NM_145038.5(DRC1):c.2079_2086del (p.Arg694fs)	DRC1 (R694fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 21 +1 more	GUncertain significance
Select item 1627791	NM_145038.5(DRC1):c.2166+16_2166+17insA	DRC1	Insertion (intron variant)	Primary ciliary dyskinesia 21 +1 more	GBenign
Select item 525352	NM_145038.5(DRC1):c.2190_2193dup (p.Thr732fs)	DRC1 (T732fs)	Duplication (frameshift variant)	Primary ciliary dyskinesia 21 +2 more	GUncertain significance
Select item 454988	NM_145038.5(DRC1):c.2223A>C (p.Ter741Cys)	DRC1	Single nucleotide variant (stop lost)	Primary ciliary dyskinesia 21 +1 more	GBenign/Likely benign
Select item 574473	NM_015896.4(ZMYND10):c.1171C>T (p.Arg391Trp)	ZMYND10 (R391W +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 241065	NM_015896.4(ZMYND10):c.1019G>A (p.Arg340Gln)	ZMYND10 (R340Q +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GBenign/Likely benign
Select item 646011	NM_015896.4(ZMYND10):c.235G>A (p.Glu79Lys)	ZMYND10 (E79K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 22 +1 more	GUncertain significance
Select item 410633	NM_015896.4(ZMYND10):c.229G>A (p.Ala77Thr)	ZMYND10 (A77T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 22 +1 more	GConflicting classifications of pathogenicity
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 14 +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)	not provided +2 more	GUncertain significance
Select item 219718	NM_181426.2(CCDC39):c.2548A>G (p.Thr850Ala)	CCDC39, TTC14 (T850A)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 663046	NM_181426.2(CCDC39):c.2485C>T (p.Arg829Cys)	CCDC39, TTC14 (R829C)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +2 more	GUncertain significance
Select item 162838	NM_181426.2(CCDC39):c.2432G>A (p.Arg811His)	CCDC39, TTC14 (R811H)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 1068490	NM_181426.2(CCDC39):c.2335C>T (p.Gln779Ter)	CCDC39, TTC14 (Q779*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely pathogenic
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 14 +1 more	GUncertain significance
Select item 262967	NM_181426.2(CCDC39):c.2159-16A>C	CCDC39	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 14 +3 more	GBenign/Likely benign
Select item 220134	NM_181426.2(CCDC39):c.2057A>G (p.Asn686Ser)	CCDC39 (N686S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1012311	NM_181426.2(CCDC39):c.2040_2043del (p.Cys680fs)	CCDC39 (C680fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia +1 more	GPathogenic
Select item 1070026	NM_181426.2(CCDC39):c.1964_1968del (p.Glu655fs)	CCDC39 (E655fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 14 +1 more	GPathogenic/Likely pathogenic
Select item 410380	NM_181426.2(CCDC39):c.1885C>T (p.Arg629Cys)	CCDC39 (R629C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GUncertain significance
Select item 344268	NM_181426.2(CCDC39):c.1363-13del	CCDC39	Deletion (intron variant)	Primary ciliary dyskinesia +1 more	GBenign/Likely benign
Select item 344270	NM_181426.2(CCDC39):c.1359C>A (p.Ser453Arg)	CCDC39 (S453R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 661055	NM_181426.2(CCDC39):c.1045del (p.Thr349fs)	CCDC39 (T349fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 14 +1 more	GPathogenic
Select item 242176	NM_181426.2(CCDC39):c.830_831del (p.Thr277fs)	CCDC39 (T277fs)	Microsatellite (frameshift variant)	Primary ciliary dyskinesia 14 +2 more	GPathogenic/Likely pathogenic
Select item 525300	NM_181426.2(CCDC39):c.610_613del	CCDC39	Deletion (splice acceptor variant)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely pathogenic
Select item 1521515	NM_181426.2(CCDC39):c.531A>G (p.Gln177=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 14 +1 more	GConflicting classifications of pathogenicity
Select item 31067	NM_181426.2(CCDC39):c.357+1G>C	CCDC39	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic
Select item 569732	NM_181426.2(CCDC39):c.137G>A (p.Arg46His)	CCDC39 (R46H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 525369	NM_181426.2(CCDC39):c.64GAG[1] (p.Glu23del)	CCDC39 (E23del)	Microsatellite (inframe_deletion)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 835336	NM_181426.2(CCDC39):c.2T>C (p.Met1Thr)	CCDC39 (M1T)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 1066064	NM_001369.3(DNAH5):c.13774C>T (p.Arg4592Ter)	DNAH5 (R4592*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely pathogenic
Select item 525409	NM_001369.3(DNAH5):c.13745A>G (p.Tyr4582Cys)	DNAH5 (Y4582C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +1 more	GUncertain significance
Select item 407248	NM_001369.3(DNAH5):c.13486C>T (p.Arg4496Ter)	DNAH5 (R4496*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 350995	NM_001369.3(DNAH5):c.13458dup (p.Asn4487Ter)	DNAH5 (N4487*)	Duplication (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
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 238962	NM_001369.3(DNAH5):c.13286G>A (p.Arg4429Gln)	DNAH5 (R4429Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +3 more	GBenign/Likely benign
Select item 454741	NM_001369.3(DNAH5):c.13175T>G (p.Phe4392Cys)	DNAH5 (F4392C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 568028	NM_001369.3(DNAH5):c.13060del (p.Ala4354fs)	DNAH5 (A4354fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia +1 more	GPathogenic
Select item 238959	NM_001369.3(DNAH5):c.12472C>T (p.Arg4158Trp)	DNAH5 (R4158W)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +3 more	GBenign/Likely benign
Select item 905788	NM_001369.3(DNAH5):c.12217G>A (p.Val4073Met)	DNAH5 (V4073M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +1 more	GConflicting classifications of pathogenicity
Select item 1123516	NM_001369.3(DNAH5):c.12171T>C (p.Asp4057=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 454734	NM_001369.3(DNAH5):c.12104C>T (p.Thr4035Met)	DNAH5 (T4035M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +1 more	GConflicting classifications of pathogenicity
Select item 696652	NM_001369.3(DNAH5):c.12033+7A>C	DNAH5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 1344588	NM_001369.3(DNAH5):c.12009G>A (p.Trp4003Ter)	DNAH5 (W4003*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia +1 more	GPathogenic
Select item 407242	NM_001369.3(DNAH5):c.11725C>T (p.Arg3909Ter)	DNAH5 (R3909*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 3 +1 more	GPathogenic
Select item 381547	NM_001369.3(DNAH5):c.11583C>A (p.Ser3861Arg)	DNAH5 (S3861R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 1011672	NM_001369.3(DNAH5):c.11506G>T (p.Val3836Phe)	DNAH5 (V3836F)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +1 more	GUncertain significance
Select item 651152	NM_001369.3(DNAH5):c.11320T>C (p.Ser3774Pro)	DNAH5, LOC107457585 (S3774P)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 257973	NM_001369.3(DNAH5):c.10878G>A (p.Thr3626=)	DNAH5	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 65636	NM_001369.3(DNAH5):c.10815del (p.Pro3606fs)	DNAH5 (P3606fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 965206	NM_001369.3(DNAH5):c.10774A>C (p.Ile3592Leu)	DNAH5 (I3592L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +2 more	GConflicting classifications of pathogenicity
Select item 844595	NM_001369.3(DNAH5):c.10658G>A (p.Arg3553Gln)	DNAH5 (R3553Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 407237	NM_001369.3(DNAH5):c.10558G>T (p.Asp3520Tyr)	DNAH5 (D3520Y)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 904106	NM_001369.3(DNAH5):c.10442G>A (p.Arg3481Gln)	DNAH5 (R3481Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 238953	NM_001369.3(DNAH5):c.10384C>T (p.Gln3462Ter)	DNAH5 (Q3462*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia +1 more	GPathogenic
Select item 1454439	NM_001369.3(DNAH5):c.9975C>A (p.Cys3325Ter)	DNAH5 (C3325*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely pathogenic
Select item 414359	NM_001369.3(DNAH5):c.9721-8del	DNAH5	Deletion (intron variant)	Primary ciliary dyskinesia +1 more	GBenign/Likely benign
Select item 581624	NM_001369.3(DNAH5):c.9125G>A (p.Arg3042Gln)	DNAH5 (R3042Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +1 more	GConflicting classifications of pathogenicity
Select item 904943	NM_001369.3(DNAH5):c.8836C>T (p.Arg2946Cys)	DNAH5 (R2946C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 351049	NM_001369.3(DNAH5):c.8765G>A (p.Arg2922His)	DNAH5 (R2922H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +1 more	GConflicting classifications of pathogenicity
Select item 525375	NM_001369.3(DNAH5):c.8528T>C (p.Phe2843Ser)	DNAH5 (F2843S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +1 more	GPathogenic/Likely pathogenic
Select item 521166	NM_001369.3(DNAH5):c.8512A>C (p.Ser2838Arg)	DNAH5 (S2838R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 454808	NM_001369.3(DNAH5):c.8440_8447del (p.Lys2813_Glu2814insTer)	DNAH5	Deletion (nonsense)	Primary ciliary dyskinesia +2 more	GPathogenic
Select item 1210267	NM_001369.3(DNAH5):c.8360_8361insT (p.Lys2787fs)	DNAH5 (K2787fs)	Insertion (frameshift variant)	Primary ciliary dyskinesia +1 more	GLikely pathogenic
Select item 905008	NM_001369.3(DNAH5):c.7881G>A (p.Met2627Ile)	DNAH5 (M2627I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +1 more	GConflicting classifications of pathogenicity
Select item 698682	NM_001369.3(DNAH5):c.7752+7C>G	DNAH5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 3 +1 more	GBenign/Likely benign
Select item 238986	NM_001369.3(DNAH5):c.7151A>G (p.Asn2384Ser)	DNAH5 (N2384S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 454800	NM_001369.3(DNAH5):c.6970A>G (p.Thr2324Ala)	DNAH5 (T2324A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 1455026	NM_001369.3(DNAH5):c.6739C>T (p.Gln2247Ter)	DNAH5 (Q2247*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely pathogenic
Select item 178748	NM_001369.3(DNAH5):c.6731A>T (p.Lys2244Met)	DNAH5 (K2244M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 968503	NM_001369.3(DNAH5):c.6556C>T (p.Arg2186Trp)	DNAH5 (R2186W)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +1 more	GConflicting classifications of pathogenicity
Select item 992005	NM_001369.3(DNAH5):c.6498A>G (p.Gly2166=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 3 +1 more	GLikely benign
Select item 454792	NM_001369.3(DNAH5):c.6407C>T (p.Thr2136Met)	DNAH5 (T2136M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 1184500	NM_001369.3(DNAH5):c.5890_5894dup (p.Leu1966fs)	DNAH5 (L1966fs)	Duplication (frameshift variant)	Primary ciliary dyskinesia 3 +1 more	GPathogenic
Select item 454788	NM_001369.3(DNAH5):c.5710-2A>G	DNAH5	Single nucleotide variant (splice acceptor variant)	Primary ciliary dyskinesia +1 more	GPathogenic
Select item 450080	NM_001369.3(DNAH5):c.5663C>T (p.Thr1888Ile)	DNAH5 (T1888I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +2 more	GUncertain significance
Select item 226601	NM_001369.3(DNAH5):c.5658C>T (p.Tyr1886=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +3 more	GBenign/Likely benign
Select item 1038718	NM_001369.3(DNAH5):c.5552T>C (p.Phe1851Ser)	DNAH5 (F1851S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 238980	NM_001369.3(DNAH5):c.5290T>C (p.Ser1764Pro)	DNAH5 (S1764P)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 220475	NM_001369.3(DNAH5):c.5281C>T (p.Arg1761Ter)	DNAH5 (R1761*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 3 +1 more	GPathogenic
Select item 454782	NM_001369.3(DNAH5):c.5219C>T (p.Ala1740Val)	DNAH5 (A1740V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 525324	NM_001369.3(DNAH5):c.4480C>T (p.Arg1494Trp)	DNAH5 (R1494W)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +1 more	GConflicting classifications of pathogenicity
Select item 654148	NM_001369.3(DNAH5):c.4400dup (p.Leu1467fs)	DNAH5 (L1467fs)	Duplication (frameshift variant)	Primary ciliary dyskinesia 3 +1 more	GPathogenic/Likely pathogenic
Select item 208992	NM_001369.3(DNAH5):c.4348C>T (p.Gln1450Ter)	DNAH5 (Q1450*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 3 +1 more	GPathogenic
Select item 577895	NM_001369.3(DNAH5):c.4072G>A (p.Gly1358Ser)	DNAH5 (G1358S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 1646955	NM_001369.3(DNAH5):c.3873A>T (p.Ile1291=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 3 +1 more	GLikely benign
Select item 1444914	NM_001369.3(DNAH5):c.3675C>G (p.Tyr1225Ter)	DNAH5 (Y1225*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely pathogenic
Select item 1366452	NM_001369.3(DNAH5):c.3598+1G>A	DNAH5	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia 3 +1 more	GPathogenic/Likely pathogenic
Select item 968058	NM_001369.3(DNAH5):c.3037A>G (p.Ser1013Gly)	DNAH5 (S1013G)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +1 more	GConflicting classifications of pathogenicity

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