"PreventionGenetics, part of Exact Sciences"[submitter] AND "CCDC39"[g - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 262972	NM_181426.2(CCDC39):c.2823A>G (p.Lys941=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 242174	NM_181426.2(CCDC39):c.2669+6C>T	TTC14, CCDC39	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 194994	NM_181426.2(CCDC39):c.2660dup (p.Ser888fs)	CCDC39, TTC14 (S888fs)	Duplication (frameshift variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 194907	NM_181426.2(CCDC39):c.2534T>C (p.Ile845Thr)	CCDC39, TTC14 (I845T)	Single nucleotide variant (missense variant +1 more)	not provided +3 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 14 +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)	not specified +2 more	GBenign/Likely benign
Select item 162839	NM_181426.2(CCDC39):c.2397G>A (p.Val799=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 14 +3 more	GBenign
Select item 262969	NM_181426.2(CCDC39):c.2367G>A (p.Thr789=)	TTC14, CCDC39	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 162840	NM_181426.2(CCDC39):c.2301G>A (p.Leu767=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 14 +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 +3 more	GConflicting classifications of pathogenicity
Select item 262968	NM_181426.2(CCDC39):c.2280A>G (p.Thr760=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 226484	NM_181426.2(CCDC39):c.2278A>G (p.Thr760Ala)	CCDC39, TTC14 (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 +3 more	GBenign
Select item 262967	NM_181426.2(CCDC39):c.2159-16A>C	CCDC39	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +2 more	GBenign/Likely benign
Select item 262966	NM_181426.2(CCDC39):c.1896A>G (p.Leu632=)	CCDC39	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 262965	NM_181426.2(CCDC39):c.1875-20G>A	CCDC39	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +1 more	GBenign
Select item 228475	NM_181426.2(CCDC39):c.1874G>T (p.Ser625Ile)	CCDC39 (S625I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 565319	NM_181426.2(CCDC39):c.1871_1872del (p.Ile624fs)	CCDC39 (I624fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia +1 more	GPathogenic
Select item 262964	NM_181426.2(CCDC39):c.1861C>T (p.Arg621Trp)	CCDC39 (R621W)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 1780274	NM_181426.2(CCDC39):c.1797A>C (p.Arg599=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 242170	NM_181426.2(CCDC39):c.1781C>T (p.Thr594Ile)	CCDC39 (T594I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +4 more	GConflicting classifications of pathogenicity
Select item 262963	NM_181426.2(CCDC39):c.1742A>G (p.Glu581Gly)	CCDC39 (E581G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1776990	NM_181426.2(CCDC39):c.1639C>T (p.Leu547Phe)	CCDC39 (L547F)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 262962	NM_181426.2(CCDC39):c.1528-43A>G	CCDC39	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +3 more	GBenign
Select item 226483	NM_181426.2(CCDC39):c.1433A>G (p.Gln478Arg)	CCDC39 (Q478R)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 242168	NM_181426.2(CCDC39):c.1363-3del	CCDC39	Deletion (intron variant)	Primary ciliary dyskinesia +4 more	GConflicting classifications of pathogenicity
Select item 162842	NM_181426.2(CCDC39):c.1359C>T (p.Ser453=)	CCDC39	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 162843	NM_181426.2(CCDC39):c.1248A>G (p.Glu416=)	CCDC39	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 2901245	NM_181426.2(CCDC39):c.1167+1258_1167+1270del	CCDC39	Microsatellite (intron variant)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 900519	NM_181426.2(CCDC39):c.1137T>C (p.Asp379=)	CCDC39	Single nucleotide variant (synonymous variant)	CCDC39-related disorder +2 more	GConflicting classifications of pathogenicity
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 199194	NM_181426.2(CCDC39):c.1035-5T>C	CCDC39	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 262961	NM_181426.2(CCDC39):c.1034+7A>T	CCDC39	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 262960	NM_181426.2(CCDC39):c.1008G>A (p.Lys336=)	CCDC39	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 262980	NM_181426.2(CCDC39):c.993T>C (p.Asn331=)	CCDC39	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 262979	NM_181426.2(CCDC39):c.930+17_930+18del	CCDC39	Deletion (intron variant)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 262978	NM_181426.2(CCDC39):c.930+12C>G	CCDC39	Single nucleotide variant (intron variant)	not specified +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)	Primary ciliary dyskinesia 14 +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)	CCDC39-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 262976	NM_181426.2(CCDC39):c.853G>A (p.Val285Met)	CCDC39 (V285M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 262975	NM_181426.2(CCDC39):c.818T>C (p.Ile273Thr)	CCDC39 (I273T)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 262974	NM_181426.2(CCDC39):c.604G>A (p.Ala202Thr)	CCDC39 (A202T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +3 more	GBenign/Likely benign
Select item 2911214	NM_181426.2(CCDC39):c.588T>G (p.Leu196=)	CCDC39	Single nucleotide variant (synonymous variant)	CCDC39-related disorder +1 more	GLikely benign
Select item 162844	NM_181426.2(CCDC39):c.545C>G (p.Thr182Ser)	CCDC39 (T182S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 14 +2 more	GBenign
Select item 226485	NM_181426.2(CCDC39):c.472C>G (p.Leu158Val)	CCDC39 (L158V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +3 more	GBenign
Select item 262973	NM_181426.2(CCDC39):c.357+8T>C	CCDC39	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 31067	NM_181426.2(CCDC39):c.357+1G>C	CCDC39	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia 14 +3 more	GPathogenic
Select item 221189	NM_181426.2(CCDC39):c.233G>A (p.Arg78His)	CCDC39 (R78H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +3 more	GBenign/Likely benign
Select item 455012	NM_181426.2(CCDC39):c.162T>C (p.Ser54=)	CCDC39	Single nucleotide variant (synonymous variant)	CCDC39-related disorder +1 more	GLikely benign
Select item 262971	NM_181426.2(CCDC39):c.25C>T (p.Leu9=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 695979	NM_181426.2(CCDC39):c.9C>T (p.Ser3=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GLikely benign

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Items: 54