C1837618[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1526204	NM_001369.3(DNAH5):c.4556T>A (p.Ile1519Asn)	DNAH5 (I1519N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3	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 905330	NM_001369.3(DNAH5):c.4171C>A (p.Leu1391Ile)	DNAH5 (L1391I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3	GUncertain significance
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
Select item 906053	NM_001369.3(DNAH5):c.2719G>A (p.Val907Ile)	DNAH5 (V907I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 351203	NM_001369.3(DNAH5):c.2368G>A (p.Ala790Thr)	DNAH5 (A790T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +1 more	GUncertain significance
Select item 1439578	NM_001369.3(DNAH5):c.2339A>C (p.Lys780Thr)	DNAH5 (K780T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 696005	NM_001369.3(DNAH5):c.2307C>T (p.Ala769=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 454757	NM_001369.3(DNAH5):c.2224C>T (p.Arg742Ter)	DNAH5 (R742*)	Single nucleotide variant (nonsense)	Respiratory ciliopathies including non-CF bronchiectasis +3 more	GPathogenic/Likely pathogenic
Select item 226597	NM_001369.3(DNAH5):c.1858C>A (p.Gln620Lys)	DNAH5 (Q620K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GBenign/Likely benign
Select item 351208	NM_001369.3(DNAH5):c.1715T>G (p.Leu572Trp)	DNAH5 (L572W)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1050130	NM_001369.3(DNAH5):c.1639C>T (p.Leu547Phe)	DNAH5 (L547F)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +1 more	GUncertain significance
Select item 351209	NM_001369.3(DNAH5):c.1631C>T (p.Thr544Ile)	DNAH5 (T544I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +1 more	GBenign/Likely benign
Select item 644170	NM_001369.3(DNAH5):c.1536G>A (p.Gln512=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 3 +1 more	GUncertain significance
Select item 39651	NM_001369.3(DNAH5):c.1121T>C (p.Ile374Thr)	DNAH5 (I374T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 351218	NM_001369.3(DNAH5):c.894C>G (p.Asn298Lys)	DNAH5 (N298K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +1 more	GBenign/Likely benign
Select item 663936	NM_001369.3(DNAH5):c.553G>A (p.Glu185Lys)	DNAH5 (E185K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +1 more	GConflicting classifications of pathogenicity
Select item 1070752	NM_001369.3(DNAH5):c.376del (p.Val126fs)	DNAH5 (V126fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 697061	NM_001369.3(DNAH5):c.360T>C (p.Asp120=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GBenign/Likely benign
Select item 238970	NM_001369.3(DNAH5):c.330A>T (p.Lys110Asn)	DNAH5 (K110N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +1 more	GConflicting classifications of pathogenicity
Select item 654540	NM_001369.3(DNAH5):c.46C>T (p.Arg16Ter)	DNAH5 (R16*)	Single nucleotide variant (nonsense)	not provided +2 more	GConflicting classifications of pathogenicity

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Items: 78