"Ambry Genetics"[submitter] AND "TTC14"[gene] - ClinVar

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

Search results

Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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)	not specified +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 940185	NM_181426.2(CCDC39):c.2795G>A (p.Ser932Asn)	CCDC39, TTC14 (S932N)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
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 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 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 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 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 +1 more	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 455021	NM_181426.2(CCDC39):c.2558G>A (p.Arg853His)	CCDC39, TTC14 (R853H)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 228476	NM_181426.2(CCDC39):c.2557C>T (p.Arg853Cys)	CCDC39, TTC14 (R853C)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
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 900397	NM_181426.2(CCDC39):c.2549C>G (p.Thr850Ser)	CCDC39, TTC14 (T850S)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 219718	NM_181426.2(CCDC39):c.2548A>G (p.Thr850Ala)	CCDC39, TTC14 (T850A)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 194907	NM_181426.2(CCDC39):c.2534T>C (p.Ile845Thr)	CCDC39, TTC14 (I845T)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
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 663046	NM_181426.2(CCDC39):c.2485C>T (p.Arg829Cys)	CCDC39, TTC14 (R829C)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	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 162838	NM_181426.2(CCDC39):c.2432G>A (p.Arg811His)	CCDC39, TTC14 (R811H)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +3 more	GBenign/Likely benign
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 525460	NM_181426.2(CCDC39):c.2409T>C (p.Cys803=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
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 162839	NM_181426.2(CCDC39):c.2397G>A (p.Val799=)	TTC14, CCDC39	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign
Select item 455018	NM_181426.2(CCDC39):c.2387T>C (p.Leu796Ser)	CCDC39, TTC14 (L796S)	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 1412392	NM_181426.2(CCDC39):c.2366C>T (p.Thr789Met)	CCDC39, TTC14 (T789M)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 838859	NM_181426.2(CCDC39):c.2358_2362del (p.Ser786fs)	CCDC39, TTC14 (S786fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia 14 +1 more	GPathogenic/Likely pathogenic
Select item 703377	NM_181426.2(CCDC39):c.2349T>C (p.Phe783=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 701377	NM_181426.2(CCDC39):c.2346A>G (p.Ser782=)	TTC14, CCDC39	Single nucleotide variant (synonymous variant +1 more)	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 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 162840	NM_181426.2(CCDC39):c.2301G>A (p.Leu767=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign
Select item 219954	NM_181426.2(CCDC39):c.2299T>C (p.Leu767=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia +3 more	GConflicting classifications of pathogenicity
Select item 902127	NM_181426.2(CCDC39):c.2291T>C (p.Ile764Thr)	CCDC39, TTC14 (I764T)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 226484	NM_181426.2(CCDC39):c.2278A>G (p.Thr760Ala)	CCDC39, TTC14 (T760A)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +3 more	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 75