Related gene-specific medical variations for Gene (Select 339829) - ClinVar - NCBI

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	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 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 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 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 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 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 3020079	NM_181426.2(CCDC39):c.2587-12A>C	CCDC39, TTC14	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 3017029	NM_181426.2(CCDC39):c.2669+12del	CCDC39, TTC14	Deletion (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 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 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 2963863	NM_181426.2(CCDC39):c.2587-17A>G	CCDC39, TTC14	Single nucleotide variant (intron 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 2961565	NM_181426.2(CCDC39):c.2586+13C>A	CCDC39, TTC14	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
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 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
Select item 2913988	NM_181426.2(CCDC39):c.2670-13G>T	CCDC39, TTC14	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2913468	NM_181426.2(CCDC39):c.2670-17T>G	CCDC39, TTC14	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2913307	NM_181426.2(CCDC39):c.2492_2496del (p.Met831fs)	CCDC39, TTC14 (M831fs)	Microsatellite (frameshift variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2912911	NM_181426.2(CCDC39):c.2664A>G (p.Ser888=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2906853	NM_181426.2(CCDC39):c.2697T>C (p.Thr899=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2904783	NM_181426.2(CCDC39):c.2517T>C (p.Asp839=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2901889	NM_181426.2(CCDC39):c.2784T>C (p.Ser928=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2899056	NM_181426.2(CCDC39):c.2406+7A>G	CCDC39, TTC14	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2892167	NM_181426.2(CCDC39):c.2323T>C (p.Leu775=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2891621	NM_181426.2(CCDC39):c.2266-7dup	CCDC39, TTC14	Duplication (intron variant)	Primary ciliary dyskinesia	GBenign
Select item 2883532	NM_181426.2(CCDC39):c.2799T>C (p.Asn933=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2873156	NM_181426.2(CCDC39):c.2646T>G (p.Pro882=)	TTC14, CCDC39	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2871401	NM_181426.2(CCDC39):c.2353C>T (p.Leu785=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2868304	NM_181426.2(CCDC39):c.2586+11A>G	CCDC39, TTC14	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2864028	NM_181426.2(CCDC39):c.2418C>T (p.Leu806=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2851851	NM_181426.2(CCDC39):c.2669+10G>C	CCDC39, TTC14	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2823557	NM_181426.2(CCDC39):c.2669+20A>G	CCDC39, TTC14	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2821837	NM_181426.2(CCDC39):c.2574A>G (p.Thr858=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2814097	NM_181426.2(CCDC39):c.2601_2607del (p.Pro868fs)	CCDC39, TTC14 (P868fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2813243	NM_181426.2(CCDC39):c.2460A>C (p.Thr820=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2791839	NM_181426.2(CCDC39):c.2266-13A>G	TTC14, CCDC39	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2789109	NM_181426.2(CCDC39):c.2376G>A (p.Gln792=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2779567	NM_181426.2(CCDC39):c.2586+7C>A	CCDC39, TTC14	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2776908	NM_181426.2(CCDC39):c.2586+20T>C	CCDC39, TTC14	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2765823	NM_181426.2(CCDC39):c.2266-16A>G	CCDC39, TTC14	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2753383	NM_181426.2(CCDC39):c.2448A>G (p.Thr816=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2753317	NM_181426.2(CCDC39):c.2387T>G (p.Leu796Ter)	CCDC39, TTC14 (L796*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2744276	NM_181426.2(CCDC39):c.2403A>G (p.Lys801=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2742075	NM_181426.2(CCDC39):c.2669+7G>A	CCDC39, TTC14	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2740337	NM_181426.2(CCDC39):c.2669+19A>G	CCDC39, TTC14	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2739211	NM_181426.2(CCDC39):c.2343T>C (p.Tyr781=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2737938	NM_181426.2(CCDC39):c.2553G>A (p.Glu851=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2737907	NM_181426.2(CCDC39):c.2669+11G>C	CCDC39, TTC14	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2737489	NM_181426.2(CCDC39):c.2817C>T (p.Ser939=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2731507	NM_181426.2(CCDC39):c.2286T>C (p.Asp762=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2726762	NM_181426.2(CCDC39):c.2604T>C (p.Pro868=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2726281	NM_181426.2(CCDC39):c.2391_2392del (p.Arg798fs)	CCDC39, TTC14 (R798fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2715552	NM_181426.2(CCDC39):c.2613C>T (p.Ser871=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2714670	NM_181426.2(CCDC39):c.2669+11G>A	CCDC39, TTC14	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2713534	NM_181426.2(CCDC39):c.2295A>G (p.Glu765=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2702736	NM_181426.2(CCDC39):c.2814G>A (p.Lys938=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2696159	NM_181426.2(CCDC39):c.2569C>T (p.Gln857Ter)	CCDC39, TTC14 (Q857*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2537699	NM_181426.2(CCDC39):c.2527G>C (p.Val843Leu)	CCDC39, TTC14 (V843L)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2465378	NM_181426.2(CCDC39):c.2555T>A (p.Ile852Asn)	CCDC39, TTC14 (I852N)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2439796	NM_181426.2(CCDC39):c.749G>A (p.Arg250Lys)	CCDC39 (R250K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 14	GUncertain significance
Select item 2201511	NM_181426.2(CCDC39):c.2407-20T>C	CCDC39, TTC14	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2173137	NM_181426.2(CCDC39):c.2622C>T (p.Gly874=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2150933	NM_181426.2(CCDC39):c.2670-14G>A	CCDC39, TTC14	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2139769	NM_181426.2(CCDC39):c.2325A>G (p.Leu775=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2115243	NM_181426.2(CCDC39):c.2391_2394del (p.Glu797_Arg798insTer)	CCDC39, TTC14	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2104905	NM_181426.2(CCDC39):c.2406+9_2406+10del	CCDC39, TTC14	Microsatellite (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2097906	NM_181426.2(CCDC39):c.2649A>C (p.Ser883=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2030085	NM_181426.2(CCDC39):c.2407-20T>A	CCDC39, TTC14	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1990587	NM_181426.2(CCDC39):c.2406+5C>T	CCDC39, TTC14	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1966163	NM_181426.2(CCDC39):c.2670-10T>G	CCDC39, TTC14	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1956403	NM_181426.2(CCDC39):c.2406+9A>C	CCDC39, TTC14	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1931471	NM_181426.2(CCDC39):c.2266-3C>G	CCDC39, TTC14	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1920614	NM_181426.2(CCDC39):c.2470C>T (p.Gln824Ter)	CCDC39, TTC14 (Q824*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 1909076	NM_181426.2(CCDC39):c.2406+2dup	CCDC39, TTC14	Duplication (intron variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1900940	NM_181426.2(CCDC39):c.2528T>C (p.Val843Ala)	CCDC39, TTC14 (V843A)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1791725	NM_181426.2(CCDC39):c.2469A>G (p.Glu823=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1791520	NM_181426.2(CCDC39):c.2453A>T (p.Asp818Val)	CCDC39, TTC14 (D818V)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1790920	NM_181426.2(CCDC39):c.2414A>C (p.Lys805Thr)	CCDC39, TTC14 (K805T)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1790449	NM_181426.2(CCDC39):c.2381C>T (p.Pro794Leu)	CCDC39, TTC14 (P794L)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1645068	NM_181426.2(CCDC39):c.2400C>G (p.Thr800=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1605846	NM_181426.2(CCDC39):c.2587-20_2587-19delinsAG	CCDC39, TTC14	Indel (intron variant)	Primary ciliary dyskinesia	GLikely benign

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