TTC14[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 3329767	NM_133462.4(TTC14):c.26C>T (p.Ser9Leu)	TTC14 (S9L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348279	NM_133462.4(TTC14):c.36C>G (p.Cys12Trp)	TTC14 (C12W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344122	NM_133462.4(TTC14):c.83A>G (p.Asn28Ser)	TTC14 (N28S)	Single nucleotide variant (missense variant)	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 2205018	NM_133462.4(TTC14):c.206C>T (p.Ser69Phe)	TTC14 (S69F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370433	NM_133462.4(TTC14):c.254C>T (p.Pro85Leu)	TTC14 (P85L)	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 2226235	NM_133462.4(TTC14):c.280A>G (p.Ser94Gly)	TTC14 (S94G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059709	NM_133462.4(TTC14):c.287-3dup	TTC14	Duplication (intron variant)	TTC14-related disorder	GBenign
Select item 2343209	NM_133462.4(TTC14):c.293A>G (p.Tyr98Cys)	TTC14 (Y98C)	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 2337016	NM_133462.4(TTC14):c.362G>A (p.Arg121Gln)	TTC14 (R121Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323226	NM_133462.4(TTC14):c.406A>G (p.Ile136Val)	TTC14 (I136V)	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 3184086	NM_133462.4(TTC14):c.469G>A (p.Ala157Thr)	TTC14 (A157T)	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 2522669	NM_133462.4(TTC14):c.707G>A (p.Ser236Asn)	TTC14 (S236N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319056	NM_133462.4(TTC14):c.707G>C (p.Ser236Thr)	TTC14 (S236T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396852	NM_133462.4(TTC14):c.790G>C (p.Glu264Gln)	TTC14 (E264Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376324	NM_133462.4(TTC14):c.803A>G (p.Glu268Gly)	TTC14 (E268G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 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 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 3184078	NM_133462.4(TTC14):c.1156G>A (p.Val386Ile)	TTC14 (V386I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254213	NM_133462.4(TTC14):c.1340A>C (p.Lys447Thr)	TTC14 (K447T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2290954	NM_133462.4(TTC14):c.1363G>A (p.Ala455Thr)	TTC14 (A455T)	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 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 2215949	NM_133462.4(TTC14):c.1514A>G (p.His505Arg)	TTC14 (H505R)	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 2218878	NM_133462.4(TTC14):c.1540C>T (p.Arg514Cys)	TTC14 (R514C)	Single nucleotide variant (3 prime UTR variant +1 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 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 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
Select item 2314885	NM_133462.4(TTC14):c.1721A>G (p.Lys574Arg)	TTC14 (K574R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2222820	NM_133462.4(TTC14):c.1735C>G (p.Leu579Val)	TTC14 (L579V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2326193	NM_133462.4(TTC14):c.1788T>G (p.Asp596Glu)	TTC14 (D596E)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
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 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 2308938	NM_133462.4(TTC14):c.1811A>C (p.Tyr604Ser)	TTC14 (Y604S)	Single nucleotide variant (3 prime UTR variant +2 more)	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 2311629	NM_133462.4(TTC14):c.2005T>C (p.Ser669Pro)	TTC14 (S669P)	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 2348237	NM_133462.4(TTC14):c.2065G>A (p.Ala689Thr)	TTC14 (A689T)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2247734	NM_133462.4(TTC14):c.2120C>T (p.Thr707Ile)	TTC14 (T707I)	Single nucleotide variant (3 prime UTR variant +2 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 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 3051068	NM_133462.4(TTC14):c.2177T>C (p.Val726Ala)	TTC14 (V726A)	Single nucleotide variant (3 prime UTR variant +2 more)	TTC14-related disorder +1 more	GConflicting classifications of pathogenicity
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 900339	NM_181426.2(CCDC39):c.*842A>G	CCDC39, TTC14	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	CCDC39, TTC14	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	TTC14, CCDC39	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	TTC14, CCDC39	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	TTC14, CCDC39	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	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	CCDC39, TTC14	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)	not provided +1 more	GBenign

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