CCDC39[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 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 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 more	Copy number gain	See cases	GPathogenic
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938077, LOC129938078 +1041 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ZMAT3, ZNF639 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	LOC129938282, LOC129938283 +866 more	Copy number gain	See cases	GPathogenic
Select item 224832	NC_000003.12:g.177772523_185716872dup	ALG3, AP2M1 +280 more	Duplication	Currarino triad	GLikely pathogenic
Select item 12819	NC_000003.12:g.(179547548_181649736)_(181808821_182152788)del	LINC01206, ACTL6A +44 more	Deletion	Anophthalmia/microphthalmia-esophageal atresia syndrome	GPathogenic
Select item 900339	NM_181426.2(CCDC39):c.*842A>G	TTC14, CCDC39	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 14	GUncertain significance
Select item 344234	NM_181426.2(CCDC39):c.*841C>T	CCDC39, TTC14	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 14	GUncertain significance
Select item 344235	NM_181426.2(CCDC39):c.*802AGT[1]	CCDC39, TTC14	Microsatellite (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 900340	NM_181426.2(CCDC39):c.*800G>A	TTC14, CCDC39	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 14	GBenign
Select item 344236	NM_181426.2(CCDC39):c.*791C>T	CCDC39, TTC14	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 14	GUncertain significance
Select item 344237	NM_181426.2(CCDC39):c.*753G>A	CCDC39, TTC14	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 900341	NM_181426.2(CCDC39):c.*734T>C	CCDC39, TTC14	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 14	GUncertain significance
Select item 900342	NM_181426.2(CCDC39):c.*698A>G	CCDC39, TTC14	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 14	GUncertain significance
Select item 344238	NM_181426.2(CCDC39):c.*660A>G	CCDC39, TTC14	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 14	GUncertain significance
Select item 344239	NM_181426.2(CCDC39):c.*643C>T	CCDC39, TTC14	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 14	GUncertain significance
Select item 344240	NM_181426.2(CCDC39):c.*575T>C	CCDC39, TTC14	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 14	GBenign
Select item 901494	NM_181426.2(CCDC39):c.*572G>T	CCDC39, TTC14	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 14	GUncertain significance
Select item 344242	NM_181426.2(CCDC39):c.*545dup	CCDC39, TTC14	Duplication (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 344241	NM_181426.2(CCDC39):c.*546A>C	CCDC39, TTC14	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 14	GBenign
Select item 344243	NM_181426.2(CCDC39):c.*545C>A	CCDC39, TTC14	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 14 +1 more	GConflicting classifications of pathogenicity
Select item 344244	NM_181426.2(CCDC39):c.*539C>A	CCDC39, TTC14	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 14	GUncertain significance
Select item 901495	NM_181426.2(CCDC39):c.*538A>C	CCDC39, TTC14	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 14	GUncertain significance
Select item 902065	NM_181426.2(CCDC39):c.*533A>C	CCDC39, TTC14	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 14	GUncertain significance
Select item 344247	NM_181426.2(CCDC39):c.*532dup	CCDC39, TTC14	Duplication (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 344246	NM_181426.2(CCDC39):c.530_532dup	CCDC39, TTC14	Duplication (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 344245	NM_181426.2(CCDC39):c.531_532dup	CCDC39, TTC14	Duplication (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 344249	NM_181426.2(CCDC39):c.*529dup	CCDC39, TTC14	Duplication (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 344248	NM_181426.2(CCDC39):c.529_530insACC	CCDC39, TTC14	Insertion (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 344250	NM_181426.2(CCDC39):c.*499A>C	CCDC39, TTC14	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 14 +1 more	GBenign
Select item 344251	NM_181426.2(CCDC39):c.*478G>A	CCDC39, TTC14	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 14	GUncertain significance
Select item 902066	NM_181426.2(CCDC39):c.*405A>G	CCDC39, TTC14	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 14	GUncertain significance
Select item 344252	NM_181426.2(CCDC39):c.*373G>A	CCDC39, TTC14	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 14	GUncertain significance
Select item 344254	NM_181426.2(CCDC39):c.*325C>A	CCDC39, TTC14	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 14	GUncertain significance
Select item 344253	NM_181426.2(CCDC39):c.*325C>T	CCDC39, TTC14	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 14	GLikely benign
Select item 902067	NM_181426.2(CCDC39):c.*313C>T	CCDC39, TTC14	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 14	GUncertain significance
Select item 902946	NM_181426.2(CCDC39):c.*229G>A	CCDC39, TTC14	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 14	GUncertain significance
Select item 344255	NM_181426.2(CCDC39):c.*161T>A	CCDC39, TTC14	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 14	GUncertain significance
Select item 344256	NM_181426.2(CCDC39):c.*157T>C	CCDC39, TTC14	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 14	GUncertain significance
Select item 344257	NM_181426.2(CCDC39):c.*147G>A	CCDC39, TTC14	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 14	GUncertain significance
Select item 902947	NM_181426.2(CCDC39):c.*134A>T	TTC14, CCDC39	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 14	GUncertain significance
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 262972	NM_181426.2(CCDC39):c.2823A>G (p.Lys941=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 14 +2 more	GConflicting classifications of pathogenicity
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 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 646035	NM_181426.2(CCDC39):c.2800_2802dup (p.Val934_Lys935insVal)	CCDC39, TTC14	Duplication (intron variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 344259	NM_181426.2(CCDC39):c.2800G>A (p.Val934Ile)	CCDC39, TTC14 (V934I)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 14	GUncertain significance
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 940185	NM_181426.2(CCDC39):c.2795G>A (p.Ser932Asn)	TTC14, CCDC39 (S932N)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
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 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 1403642	NM_181426.2(CCDC39):c.2762C>T (p.Pro921Leu)	CCDC39, TTC14 (P921L)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 649426	NM_181426.2(CCDC39):c.2758A>G (p.Ser920Gly)	CCDC39, TTC14 (S920G)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
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 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 455023	NM_181426.2(CCDC39):c.2736G>A (p.Pro912=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1025604	NM_181426.2(CCDC39):c.2735C>T (p.Pro912Leu)	CCDC39, TTC14 (P912L)	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 344260	NM_181426.2(CCDC39):c.2715A>G (p.Lys905=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 14 +1 more	GConflicting classifications of pathogenicity
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 1966163	NM_181426.2(CCDC39):c.2670-10T>G	CCDC39, TTC14	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GUncertain significance
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 2150933	NM_181426.2(CCDC39):c.2670-14G>A	CCDC39, TTC14	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GUncertain significance
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 1199510	NM_181426.2(CCDC39):c.2670-90T>C	CCDC39, TTC14	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 2823557	NM_181426.2(CCDC39):c.2669+20A>G	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 3017029	NM_181426.2(CCDC39):c.2669+12del	CCDC39, TTC14	Deletion (intron variant)	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 2714670	NM_181426.2(CCDC39):c.2669+11G>A	CCDC39, TTC14	Single nucleotide variant (intron variant)	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 2742075	NM_181426.2(CCDC39):c.2669+7G>A	CCDC39, TTC14	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 242174	NM_181426.2(CCDC39):c.2669+6C>T	CCDC39, TTC14	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 14 +3 more	GBenign
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 194994	NM_181426.2(CCDC39):c.2660dup (p.Ser888fs)	TTC14, CCDC39 (S888fs)	Duplication (frameshift variant +1 more)	not specified +2 more	GBenign/Likely 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 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 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 1010335	NM_181426.2(CCDC39):c.2642C>T (p.Ser881Phe)	CCDC39, TTC14 (S881F)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 344261	NM_181426.2(CCDC39):c.2626C>T (p.Arg876Cys)	CCDC39, TTC14 (R876C)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 14 +1 more	GUncertain significance
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 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 455022	NM_181426.2(CCDC39):c.2615C>A (p.Thr872Lys)	CCDC39, TTC14 (T872K)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +2 more	GUncertain significance
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 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 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 844752	NM_181426.2(CCDC39):c.2596G>T (p.Glu866Ter)	CCDC39, TTC14 (E866*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 762717	NM_181426.2(CCDC39):c.2587-4C>T	CCDC39, TTC14	Single nucleotide variant (intron 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 2963863	NM_181426.2(CCDC39):c.2587-17A>G	CCDC39, TTC14	Single nucleotide variant (intron variant)	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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