ClinVar for Gene (Select 151613) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 269

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3329770	NM_133462.4(TTC14):c.877G>T (p.Asp293Tyr)	TTC14 (D293Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329769	NM_133462.4(TTC14):c.569G>A (p.Arg190Gln)	TTC14 (R190Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329768	NM_133462.4(TTC14):c.1850A>G (p.Tyr617Cys)	TTC14 (Y617C)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3329767	NM_133462.4(TTC14):c.26C>T (p.Ser9Leu)	TTC14 (S9L)	Single nucleotide variant (missense variant)	not specified	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 3184086	NM_133462.4(TTC14):c.469G>A (p.Ala157Thr)	TTC14 (A157T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184085	NM_133462.4(TTC14):c.458T>A (p.Met153Lys)	TTC14 (M153K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184084	NM_133462.4(TTC14):c.337A>G (p.Met113Val)	TTC14 (M113V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184083	NM_133462.4(TTC14):c.268A>C (p.Ile90Leu)	TTC14 (I90L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184081	NM_133462.4(TTC14):c.1810T>A (p.Tyr604Asn)	TTC14 (Y604N)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3184080	NM_133462.4(TTC14):c.1571C>A (p.Ser524Tyr)	TTC14 (S524Y)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3184079	NM_133462.4(TTC14):c.1439G>A (p.Ser480Asn)	TTC14 (S480N)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3184078	NM_133462.4(TTC14):c.1156G>A (p.Val386Ile)	TTC14 (V386I)	Single nucleotide variant (missense variant)	not specified	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 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 3062712	GRCh37/hg19 3q26.33-27.2(chr3:179391972-185539073)x1	ABCC5, ABCF3 +47 more	Copy number loss	not specified	GPathogenic
Select item 3059709	NM_133462.4(TTC14):c.287-3dup	TTC14	Duplication (intron variant)	TTC14-related disorder	GBenign
Select item 3051068	NM_133462.4(TTC14):c.2177T>C (p.Val726Ala)	TTC14 (V726A)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3050923	NM_133462.4(TTC14):c.2034T>C (p.Ser678=)	TTC14	Single nucleotide variant (3 prime UTR variant +2 more)	TTC14-related disorder	GLikely benign
Select item 3050662	NM_133462.4(TTC14):c.888T>C (p.Ser296=)	TTC14	Single nucleotide variant (synonymous variant)	TTC14-related disorder	GBenign
Select item 3048566	NM_133462.4(TTC14):c.939C>T (p.Ile313=)	TTC14	Single nucleotide variant (synonymous variant)	TTC14-related disorder	GLikely benign
Select item 3046120	NM_133462.4(TTC14):c.1806C>T (p.Asn602=)	TTC14	Single nucleotide variant (3 prime UTR variant +2 more)	TTC14-related disorder	GLikely benign
Select item 3045653	NM_133462.4(TTC14):c.1513C>T (p.His505Tyr)	TTC14 (H505Y)	Single nucleotide variant (3 prime UTR variant +1 more)	TTC14-related disorder	GLikely benign
Select item 3038263	NM_133462.4(TTC14):c.1056G>A (p.Ala352=)	TTC14	Single nucleotide variant (synonymous variant)	TTC14-related disorder	GBenign
Select item 3035715	NM_133462.4(TTC14):c.1143C>T (p.Leu381=)	TTC14	Single nucleotide variant (synonymous variant)	TTC14-related disorder	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 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	TTC14, CCDC39	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=)	TTC14, CCDC39	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2906853	NM_181426.2(CCDC39):c.2697T>C (p.Thr899=)	TTC14, CCDC39	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=)	TTC14, CCDC39	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=)	CCDC39, TTC14	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	CCDC39, TTC14	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	TTC14, CCDC39	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 2671619	Single allele	ABCC5, ABCF3 +145 more	Duplication	not provided	GPathogenic
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2616088	NM_133462.4(TTC14):c.1624A>G (p.Asn542Asp)	TTC14 (N542D)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2611595	NM_133462.4(TTC14):c.1526G>A (p.Arg509His)	TTC14 (R509H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2598117	NM_133462.4(TTC14):c.2125C>A (p.Gln709Lys)	TTC14 (Q709K)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2559944	NM_133462.4(TTC14):c.181A>G (p.Asn61Asp)	TTC14 (N61D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2522669	NM_133462.4(TTC14):c.707G>A (p.Ser236Asn)	TTC14 (S236N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473771	NM_133462.4(TTC14):c.2137G>A (p.Glu713Lys)	TTC14 (E713K)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	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 2404104	NM_133462.4(TTC14):c.2288A>G (p.Glu763Gly)	TTC14 (E763G)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2400345	NM_133462.4(TTC14):c.1684G>A (p.Asp562Asn)	TTC14 (D562N)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance

<< First< Prev

Page of 3