"GeneDx"[submitter] AND "CCDC39"[gene] - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 344258	NM_181426.2(CCDC39):c.*133A>T	CCDC39, TTC14	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 14 +1 more	GBenign
Select item 940185	NM_181426.2(CCDC39):c.2795G>A (p.Ser932Asn)	CCDC39, TTC14 (S932N)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 1199510	NM_181426.2(CCDC39):c.2670-90T>C	TTC14, CCDC39	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1244475	NM_181426.2(CCDC39):c.2670-126C>T	CCDC39, TTC14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286735	NM_181426.2(CCDC39):c.2669+193C>G	CCDC39, TTC14	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 162839	NM_181426.2(CCDC39):c.2397G>A (p.Val799=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 162840	NM_181426.2(CCDC39):c.2301G>A (p.Leu767=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 1182048	NM_181426.2(CCDC39):c.2265+262C>G	CCDC39	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 162841	NM_181426.2(CCDC39):c.2230C>G (p.Gln744Glu)	CCDC39 (Q744E)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 419341	NM_181426.2(CCDC39):c.2226C>A (p.Tyr742Ter)	CCDC39 (Y742*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1284238	NM_181426.2(CCDC39):c.2158+158del	CCDC39	Deletion (intron variant)	not provided	GBenign
Select item 1201154	NM_181426.2(CCDC39):c.1999-97T>C	CCDC39	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1272708	NM_181426.2(CCDC39):c.1998+292C>T	CCDC39	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228696	NM_181426.2(CCDC39):c.1998+209_1998+217dup	CCDC39	Duplication (intron variant)	not provided	GBenign
Select item 1189339	NM_181426.2(CCDC39):c.1874+89C>G	CCDC39	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1304849	NM_181426.2(CCDC39):c.1811A>G (p.Lys604Arg)	CCDC39 (K604R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 242170	NM_181426.2(CCDC39):c.1781C>T (p.Thr594Ile)	CCDC39 (T594I)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 423324	NM_181426.2(CCDC39):c.1744del (p.Val582fs)	CCDC39 (V582fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1706803	NM_181426.2(CCDC39):c.1666-58del	CCDC39	Deletion (intron variant)	not provided	GLikely benign
Select item 1241150	NM_181426.2(CCDC39):c.1666-163dup	CCDC39	Duplication (intron variant)	not provided	GBenign
Select item 1199751	NM_181426.2(CCDC39):c.1666-153del	CCDC39	Deletion (intron variant)	not provided	GLikely benign
Select item 1193876	NM_181426.2(CCDC39):c.1665+110A>G	CCDC39	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 262962	NM_181426.2(CCDC39):c.1528-43A>G	CCDC39	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 14 +3 more	GBenign
Select item 1245670	NM_181426.2(CCDC39):c.1527+191C>T	CCDC39	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 226483	NM_181426.2(CCDC39):c.1433A>G (p.Gln478Arg)	CCDC39 (Q478R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +3 more	GBenign/Likely benign
Select item 452875	NM_181426.2(CCDC39):c.1387C>T (p.Arg463Trp)	CCDC39 (R463W)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 14 +2 more	GUncertain significance
Select item 242168	NM_181426.2(CCDC39):c.1363-3del	CCDC39	Deletion (intron variant)	Primary ciliary dyskinesia 14 +3 more	GConflicting classifications of pathogenicity
Select item 344267	NM_181426.2(CCDC39):c.1363-23dup	CCDC39	Duplication (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1247329	NM_181426.2(CCDC39):c.1362+280A>C	CCDC39	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 162842	NM_181426.2(CCDC39):c.1359C>T (p.Ser453=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +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 1290695	NM_181426.2(CCDC39):c.1168-32A>G	CCDC39	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268566	NM_181426.2(CCDC39):c.1167+1444C>T	CCDC39	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234920	NM_181426.2(CCDC39):c.1167+1324T>G	CCDC39	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236242	NM_181426.2(CCDC39):c.1167+1302G>T	CCDC39	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 410378	NM_181426.2(CCDC39):c.1167+1261A>G	CCDC39	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +2 more	GPathogenic/Likely pathogenic
Select item 1269790	NM_181426.2(CCDC39):c.1167+936C>T	CCDC39	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283598	NM_181426.2(CCDC39):c.1167+935A>C	CCDC39	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1707261	NM_181426.2(CCDC39):c.1167+205del	CCDC39	Deletion (intron variant)	not provided	GLikely benign
Select item 1271439	NM_181426.2(CCDC39):c.1167+196del	CCDC39	Deletion (intron variant)	not provided	GBenign
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 1229269	NM_181426.2(CCDC39):c.1035-227T>C	CCDC39	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245419	NM_181426.2(CCDC39):c.1035-231C>T	CCDC39	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288600	NM_181426.2(CCDC39):c.1035-232G>A	CCDC39	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264642	NM_181426.2(CCDC39):c.1034+201T>C	CCDC39	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2715292	NM_181426.2(CCDC39):c.931-1G>T	CCDC39	Single nucleotide variant (splice acceptor variant)	Primary ciliary dyskinesia +1 more	GPathogenic
Select item 1271734	NM_181426.2(CCDC39):c.931-59G>T	CCDC39	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208915	NM_181426.2(CCDC39):c.930+125dup	CCDC39	Duplication (intron variant)	not provided	GLikely benign
Select item 1287883	NM_181426.2(CCDC39):c.930+137del	CCDC39	Deletion (intron variant)	not provided	GBenign
Select item 1261819	NM_181426.2(CCDC39):c.930+103dup	CCDC39	Duplication (intron variant)	not provided	GBenign
Select item 1223335	NM_181426.2(CCDC39):c.930+95A>G	CCDC39	Single nucleotide variant (intron variant)	not provided	GBenign
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 344274	NM_181426.2(CCDC39):c.880A>G (p.Arg294Gly)	CCDC39 (R294G)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 14 +2 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 14 +2 more	GPathogenic/Likely pathogenic
Select item 1247376	NM_181426.2(CCDC39):c.738+195T>G	CCDC39	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239409	NM_181426.2(CCDC39):c.738+169G>A	CCDC39	Single nucleotide variant (intron variant)	not provided	GBenign
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 817471	NM_181426.2(CCDC39):c.547_548del (p.Leu183fs)	CCDC39 (L183fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1691150	NM_181426.2(CCDC39):c.517-96_517-91del	CCDC39	Microsatellite (intron variant)	not provided	GLikely benign
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 1268665	NM_181426.2(CCDC39):c.358-84G>C	CCDC39	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276903	NM_181426.2(CCDC39):c.357+174A>G	CCDC39	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 1233410	NM_181426.2(CCDC39):c.211-56G>T	CCDC39	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237713	NM_181426.2(CCDC39):c.210+182dup	CCDC39	Duplication (intron variant)	not provided	GBenign
Select item 1257196	NM_181426.2(CCDC39):c.210+197del	CCDC39	Deletion (intron variant)	not provided	GBenign
Select item 3372257	NM_181426.2(CCDC39):c.136C>T (p.Arg46Cys)	CCDC39 (R46C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1229219	NM_181426.2(CCDC39):c.91-255A>C	CCDC39	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280264	NM_181426.2(CCDC39):c.91-331T>C	CCDC39	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181910	NM_181426.2(CCDC39):c.90+214A>T	CCDC39	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220613	NM_181426.2(CCDC39):c.90+105C>T	CCDC39	Single nucleotide variant (intron variant)	not provided	GBenign
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 1260646	NC_000003.12:g.180679648C>G	CCDC39	Single nucleotide variant	not provided	GBenign
Select item 3342394	NC_000003.12:g.180679690A>T	CCDC39	Single nucleotide variant	not provided	GLikely benign
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic

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Items: 80