ClinVar for Gene (Select 339829) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 865

<< First< Prev

Page of 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382260	NM_181426.2(CCDC39):c.550G>T (p.Glu184Ter)	CCDC39 (E184*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 14	GLikely pathogenic
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 3362609	NM_181426.2(CCDC39):c.862C>T (p.Arg288Cys)	CCDC39 (R288C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 14	GUncertain significance
Select item 3342394	NC_000003.12:g.180679690A>T	CCDC39	Single nucleotide variant	not provided	GLikely benign
Select item 3264205	NM_181426.2(CCDC39):c.2651A>G (p.His884Arg)	CCDC39, TTC14 (H884R)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3264204	NM_181426.2(CCDC39):c.2420C>T (p.Thr807Ile)	CCDC39, TTC14 (T807I)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3264203	NM_181426.2(CCDC39):c.2564T>G (p.Ile855Ser)	CCDC39, TTC14 (I855S)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3264202	NM_181426.2(CCDC39):c.2345C>T (p.Ser782Leu)	CCDC39, TTC14 (S782L)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3264201	NM_181426.2(CCDC39):c.2159G>T (p.Ser720Ile)	CCDC39 (S720I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3264200	NM_181426.2(CCDC39):c.2724G>A (p.Glu908=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 3246792	NC_000003.11:g.(?_180378451)_(180407060_?)del	CCDC39	Deletion	Primary ciliary dyskinesia	GPathogenic
Select item 3246791	NC_000003.11:g.(?_180369931)_(180372761_?)dup	CCDC39	Duplication	Primary ciliary dyskinesia	GLikely pathogenic
Select item 3246790	NC_000003.11:g.(?_180364847)_(180381794_?)del	CCDC39	Deletion	Primary ciliary dyskinesia	GPathogenic
Select item 3246789	NC_000003.11:g.(?_180359761)_(180362065_?)del	CCDC39	Deletion	Primary ciliary dyskinesia	GPathogenic
Select item 3246788	NC_000003.11:g.(?_180381635)_(180397168_?)del	CCDC39	Deletion	Primary ciliary dyskinesia	GPathogenic
Select item 3246787	NC_000003.11:g.(?_180359761)_(180397168_?)del	CCDC39	Deletion	Primary ciliary dyskinesia	GPathogenic
Select item 3246786	NC_000003.11:g.(?_180397059)_(180397168_?)del	CCDC39	Deletion	Primary ciliary dyskinesia	GPathogenic
Select item 3229470	NM_181426.2(CCDC39):c.2159G>A (p.Ser720Asn)	CCDC39 (S720N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3148910	GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3	ABCC5, ABCF3 +136 more	Copy number gain	See cases	GPathogenic
Select item 3139147	NM_181426.2(CCDC39):c.853G>T (p.Val285Leu)	CCDC39 (V285L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3139145	NM_181426.2(CCDC39):c.782T>G (p.Leu261Trp)	CCDC39 (L261W)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3139144	NM_181426.2(CCDC39):c.2744C>G (p.Ser915Cys)	CCDC39, TTC14 (S915C)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3139143	NM_181426.2(CCDC39):c.2338G>A (p.Ala780Thr)	CCDC39, TTC14 (A780T)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3139142	NM_181426.2(CCDC39):c.2153C>A (p.Pro718Gln)	CCDC39 (P718Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3139141	NM_181426.2(CCDC39):c.1706A>G (p.Lys569Arg)	CCDC39 (K569R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3068297	NM_181426.2(CCDC39):c.1452del (p.Ile484fs)	CCDC39 (I484fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 14	GLikely pathogenic
Select item 3068014	NM_181426.2(CCDC39):c.676C>T (p.Gln226Ter)	CCDC39 (Q226*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 14	GLikely pathogenic
Select item 3062712	GRCh37/hg19 3q26.33-27.2(chr3:179391972-185539073)x1	ABCC5, ABCF3 +47 more	Copy number loss	not specified	GPathogenic
Select item 3022203	NM_181426.2(CCDC39):c.931-19T>C	CCDC39	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3021632	NM_181426.2(CCDC39):c.1767A>G (p.Lys589=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3020079	NM_181426.2(CCDC39):c.2587-12A>C	CCDC39, TTC14	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3020024	NM_181426.2(CCDC39):c.1035-13A>G	CCDC39	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3018919	NM_181426.2(CCDC39):c.2532T>C (p.Asp844=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 3018905	NM_181426.2(CCDC39):c.1410A>G (p.Gly470=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3018343	NM_181426.2(CCDC39):c.840_841del (p.Arg282fs)	CCDC39 (R282fs)	Microsatellite (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 3017951	NM_181426.2(CCDC39):c.210+17T>C	CCDC39	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3017151	NM_181426.2(CCDC39):c.1716A>G (p.Arg572=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3017029	NM_181426.2(CCDC39):c.2669+12del	CCDC39, TTC14	Deletion (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3016990	NM_181426.2(CCDC39):c.1528-19C>A	CCDC39	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3015829	NM_181426.2(CCDC39):c.738+11T>C	CCDC39	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3015022	NM_181426.2(CCDC39):c.2790C>T (p.Ser930=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 3014583	NM_181426.2(CCDC39):c.930+12C>A	CCDC39	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3013608	NM_181426.2(CCDC39):c.1363-12A>T	CCDC39	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3013436	NM_181426.2(CCDC39):c.2159-13T>C	CCDC39	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3013136	NM_181426.2(CCDC39):c.2454T>C (p.Asp818=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 3012632	NM_181426.2(CCDC39):c.1665+7T>C	CCDC39	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3011715	NM_181426.2(CCDC39):c.90+17C>G	CCDC39	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3010992	NM_181426.2(CCDC39):c.2550T>G (p.Thr850=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 3010095	NM_181426.2(CCDC39):c.930+9A>T	CCDC39	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3007803	NM_181426.2(CCDC39):c.90+7T>G	CCDC39	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3007167	NM_181426.2(CCDC39):c.211-14G>T	CCDC39	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3006206	NM_181426.2(CCDC39):c.90+7T>A	CCDC39	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3005606	NM_181426.2(CCDC39):c.2159-14G>A	CCDC39	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3003547	NM_181426.2(CCDC39):c.1034+1G>A	CCDC39	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 3000276	NM_181426.2(CCDC39):c.597T>C (p.Thr199=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2998655	NM_181426.2(CCDC39):c.1168-10T>C	CCDC39	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2997801	NM_181426.2(CCDC39):c.2184A>G (p.Gln728=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2995079	NM_181426.2(CCDC39):c.358-18T>C	CCDC39	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2992402	NM_181426.2(CCDC39):c.852T>C (p.Ser284=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2987945	NM_181426.2(CCDC39):c.714T>C (p.Asp238=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2984646	NM_181426.2(CCDC39):c.1650C>T (p.Ala550=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2983619	NM_181426.2(CCDC39):c.210+9A>C	CCDC39	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2983478	NM_181426.2(CCDC39):c.1878T>G (p.Thr626=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2982237	NM_181426.2(CCDC39):c.1167+1G>A	CCDC39	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia	GPathogenic
Select item 2982236	NM_181426.2(CCDC39):c.1939_1940del (p.Val647fs)	CCDC39 (V647fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 2980933	NM_181426.2(CCDC39):c.516+16T>A	CCDC39	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2980917	NM_181426.2(CCDC39):c.114_115del (p.Arg38fs)	CCDC39 (R38fs)	Microsatellite (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 2979976	NM_181426.2(CCDC39):c.420G>A (p.Gln140=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2979684	NM_181426.2(CCDC39):c.813T>C (p.Ser271=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2975980	NM_181426.2(CCDC39):c.1506A>G (p.Glu502=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2975899	NM_181426.2(CCDC39):c.2158+13T>C	CCDC39	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2975585	NM_181426.2(CCDC39):c.426A>G (p.Ala142=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2970044	NM_181426.2(CCDC39):c.610-9G>C	CCDC39	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2966770	NM_181426.2(CCDC39):c.1020T>C (p.His340=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2965762	NM_181426.2(CCDC39):c.1737A>G (p.Ala579=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2965603	NM_181426.2(CCDC39):c.462T>C (p.Asp154=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2964615	NM_181426.2(CCDC39):c.739-17_739-16del	CCDC39	Microsatellite (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2963863	NM_181426.2(CCDC39):c.2587-17A>G	CCDC39, TTC14	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2963851	NM_181426.2(CCDC39):c.1062G>A (p.Glu354=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2963064	NM_181426.2(CCDC39):c.2625T>C (p.Ser875=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2962652	NM_181426.2(CCDC39):c.2407-7C>T	CCDC39, TTC14	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2962106	NM_181426.2(CCDC39):c.81G>A (p.Leu27=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2961565	NM_181426.2(CCDC39):c.2586+13C>A	CCDC39, TTC14	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2958950	NM_181426.2(CCDC39):c.2265+11C>T	CCDC39	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2958764	NM_181426.2(CCDC39):c.730T>C (p.Cys244Arg)	CCDC39 (C244R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2958187	NM_181426.2(CCDC39):c.1666-8G>T	CCDC39	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2957617	NM_181426.2(CCDC39):c.1998+10A>G	CCDC39	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2955469	NM_181426.2(CCDC39):c.1876_1877dup (p.Glu627fs)	CCDC39 (E627fs)	Duplication (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 2955231	NM_181426.2(CCDC39):c.2749C>T (p.Leu917=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2954975	NM_181426.2(CCDC39):c.2586+12C>A	CCDC39, TTC14	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2954891	NM_181426.2(CCDC39):c.2406+11C>A	CCDC39, TTC14	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2920495	NM_181426.2(CCDC39):c.24G>A (p.Glu8=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2919095	NM_181426.2(CCDC39):c.1485A>G (p.Lys495=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2919034	NM_181426.2(CCDC39):c.662_663del (p.Gln221fs)	CCDC39 (Q221fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 2917521	NM_181426.2(CCDC39):c.1293A>G (p.Lys431=)	CCDC39	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2916489	NM_181426.2(CCDC39):c.1168-6_1168-4del	CCDC39	Deletion (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2915909	NM_181426.2(CCDC39):c.1257_1258insA (p.Leu420fs)	CCDC39 (L420fs)	Insertion (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 2915139	NM_181426.2(CCDC39):c.2266-1G>A	CCDC39, TTC14	Single nucleotide variant (intron variant +1 more)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 2914836	NM_181426.2(CCDC39):c.2407-6C>T	CCDC39, TTC14	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2914831	NM_181426.2(CCDC39):c.2586+15_2586+17del	CCDC39, TTC14	Deletion (intron variant)	Primary ciliary dyskinesia	GLikely benign

<< First< Prev

Page of 9