ClinVar for Gene (Select 123872) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3360112	NM_178452.6(DNAAF1):c.741+3_741+8del	DNAAF1	Deletion (intron variant)	not provided	GUncertain significance
Select item 3272509	NM_178452.6(DNAAF1):c.614A>G (p.Asn205Ser)	DNAAF1 (N205S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272508	NM_178452.6(DNAAF1):c.1096C>T (p.Pro366Ser)	DNAAF1 (P366S +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272507	NM_178452.6(DNAAF1):c.94G>A (p.Gly32Arg)	DNAAF1 (G32R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272506	NM_178452.6(DNAAF1):c.1610T>C (p.Ile537Thr)	DNAAF1 (I301T +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272505	NM_178452.6(DNAAF1):c.1752C>A (p.Asp584Glu)	DNAAF1 (D348E +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272504	NM_178452.6(DNAAF1):c.2146C>A (p.Leu716Ile)	DNAAF1 (L480I +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272503	NM_178452.6(DNAAF1):c.1998A>G (p.Gln666=)	DNAAF1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3272502	NM_178452.6(DNAAF1):c.1416C>T (p.Thr472=)	DNAAF1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3272500	NM_178452.6(DNAAF1):c.1609A>T (p.Ile537Phe)	DNAAF1 (I537F +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272499	NM_178452.6(DNAAF1):c.49G>T (p.Asp17Tyr)	DNAAF1 (D17Y)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272498	NM_178452.6(DNAAF1):c.1059G>C (p.Glu353Asp)	DNAAF1 (E117D +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3243219	NC_000016.9:g.(?_84199369)_(84199575_?)del	DNAAF1	Deletion	Primary ciliary dyskinesia	GPathogenic
Select item 3243218	NC_000016.9:g.(?_84179046)_(84211465_?)del	DNAAF1, TAF1C	Deletion	Primary ciliary dyskinesia	GPathogenic
Select item 3242307	GRCh37/hg19 16q23.3-24.3(chr16:82865402-90163542)x3	ACSF3, ADAD2 +87 more	Copy number gain	not provided	GPathogenic
Select item 3229469	NM_178452.6(DNAAF1):c.327T>C (p.Asn109=)	DNAAF1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3083307	NM_178452.6(DNAAF1):c.761G>C (p.Gly254Ala)	DNAAF1 (G2A +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083305	NM_178452.6(DNAAF1):c.316C>G (p.Pro106Ala)	DNAAF1 (P106A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083304	NM_178452.6(DNAAF1):c.2099C>T (p.Thr700Met)	DNAAF1 (T700M +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083303	NM_178452.6(DNAAF1):c.1864A>C (p.Thr622Pro)	DNAAF1 (T386P +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083302	NM_178452.6(DNAAF1):c.1831A>G (p.Lys611Glu)	DNAAF1 (K375E +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083301	NM_178452.6(DNAAF1):c.1798A>G (p.Thr600Ala)	DNAAF1 (T600A +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3083300	NM_178452.6(DNAAF1):c.1703T>C (p.Met568Thr)	DNAAF1 (M568T +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083299	NM_178452.6(DNAAF1):c.158C>T (p.Ser53Phe)	DNAAF1 (S53F)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083298	NM_178452.6(DNAAF1):c.151G>A (p.Val51Met)	DNAAF1 (V51M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083297	NM_178452.6(DNAAF1):c.1507C>A (p.Pro503Thr)	DNAAF1 (P267T +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083296	NM_178452.6(DNAAF1):c.148T>C (p.Cys50Arg)	DNAAF1 (C50R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083295	NM_178452.6(DNAAF1):c.1430C>T (p.Pro477Leu)	DNAAF1 (P477L +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083293	NM_178452.6(DNAAF1):c.1093C>G (p.Pro365Ala)	DNAAF1 (P365A +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3063475	GRCh37/hg19 16q23.3-24.1(chr16:83307393-84530337)x3	ADAD2, ATP2C2 +14 more	Copy number gain	not specified	GUncertain significance
Select item 3063461	GRCh37/hg19 16q23.3-24.1(chr16:84046622-84340916)x3	ADAD2, DNAAF1 +7 more	Copy number gain	not specified	GUncertain significance
Select item 3063401	GRCh37/hg19 16q23.3-24.1(chr16:84009532-84245489)x1	ADAD2, DNAAF1 +6 more	Copy number loss	not specified	GPathogenic
Select item 3047802	NM_178452.6(DNAAF1):c.91C>T (p.His31Tyr)	DNAAF1 (H31Y)	Single nucleotide variant (missense variant)	DNAAF1-related disorder	GUncertain significance
Select item 3034018	NM_178452.6(DNAAF1):c.575-1G>C	DNAAF1	Single nucleotide variant (splice acceptor variant)	DNAAF1-related disorder	GLikely pathogenic
Select item 3026963	NM_178452.6(DNAAF1):c.1376A>C (p.Asp459Ala)	DNAAF1 (D223A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3021752	NM_178452.6(DNAAF1):c.333G>C (p.Thr111=)	DNAAF1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3018383	NM_178452.6(DNAAF1):c.1263G>C (p.Leu421=)	DNAAF1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3015374	NM_178452.6(DNAAF1):c.230C>G (p.Pro77Arg)	DNAAF1 (P77R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3012491	NM_178452.6(DNAAF1):c.96G>C (p.Gly32=)	DNAAF1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3004708	NM_178452.6(DNAAF1):c.1435del (p.Pro478_Val479insTer)	DNAAF1	Deletion (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 2989296	NM_178452.6(DNAAF1):c.1515A>T (p.Gly505=)	DNAAF1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2987827	NM_178452.6(DNAAF1):c.741+2T>G	DNAAF1	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 2981110	NM_178452.6(DNAAF1):c.1746dup (p.Ser583fs)	DNAAF1 (S583fs +1 more)	Duplication (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 2973850	NM_178452.6(DNAAF1):c.741+4AAAAAC[4]	DNAAF1	Microsatellite (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2963850	NM_178452.6(DNAAF1):c.353-5G>A	DNAAF1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2919989	NM_178452.6(DNAAF1):c.939G>A (p.Glu313=)	DNAAF1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2918171	NM_178452.6(DNAAF1):c.124+16C>T	DNAAF1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2915325	NM_178452.6(DNAAF1):c.462_465del (p.Cys155fs)	DNAAF1 (C155fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 2913927	NM_178452.6(DNAAF1):c.321A>G (p.Ala107=)	DNAAF1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2912534	NM_178452.6(DNAAF1):c.1698+9C>T	DNAAF1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2907253	NM_178452.6(DNAAF1):c.1645-9C>T	DNAAF1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2885286	NM_178452.6(DNAAF1):c.1578T>C (p.Leu526=)	DNAAF1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2875972	NM_178452.6(DNAAF1):c.2178G>A (p.Ter726=)	DNAAF1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2867981	NM_178452.6(DNAAF1):c.1525G>T (p.Glu509Ter)	DNAAF1 (E273* +1 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 2865877	NM_178452.6(DNAAF1):c.1719T>A (p.Ile573=)	DNAAF1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2863613	NM_178452.6(DNAAF1):c.2154A>C (p.Ala718=)	DNAAF1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2851563	NM_178452.6(DNAAF1):c.1832A>C (p.Lys611Thr)	DNAAF1 (K611T +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2849298	NM_178452.6(DNAAF1):c.124+12C>T	DNAAF1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2847081	NM_178452.6(DNAAF1):c.1755T>A (p.Pro585=)	DNAAF1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2831770	NM_178452.6(DNAAF1):c.522A>G (p.Lys174=)	DNAAF1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2831061	NM_178452.6(DNAAF1):c.352+9C>A	DNAAF1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2806578	NM_178452.6(DNAAF1):c.880T>C (p.Trp294Arg)	DNAAF1 (W294R +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2806124	NM_178452.6(DNAAF1):c.1697A>G (p.Gln566Arg)	DNAAF1 (Q566R +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2782729	NM_178452.6(DNAAF1):c.1699-3T>C	DNAAF1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2782728	NM_178452.6(DNAAF1):c.1678G>C (p.Gly560Arg)	DNAAF1 (G324R +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2779338	NM_178452.6(DNAAF1):c.574+11C>T	DNAAF1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2777507	NM_178452.6(DNAAF1):c.575-18G>T	DNAAF1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2777500	NM_178452.6(DNAAF1):c.442G>T (p.Glu148Ter)	DNAAF1 (E148*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 2759396	NM_178452.6(DNAAF1):c.352+15G>C	DNAAF1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2755650	NM_178452.6(DNAAF1):c.1549G>A (p.Ala517Thr)	DNAAF1 (A281T +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2746060	NM_178452.6(DNAAF1):c.1645-19G>C	DNAAF1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2742676	NM_178452.6(DNAAF1):c.1101G>C (p.Gly367=)	DNAAF1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2739764	NM_178452.6(DNAAF1):c.1645-20C>T	DNAAF1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2736499	NM_178452.6(DNAAF1):c.1644+17dup	DNAAF1	Duplication (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2725426	NM_178452.6(DNAAF1):c.353-19C>T	DNAAF1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2724382	NM_178452.6(DNAAF1):c.261-20A>G	DNAAF1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2712901	NM_178452.6(DNAAF1):c.39A>C (p.Ala13=)	DNAAF1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2695995	NM_178452.6(DNAAF1):c.430A>G (p.Ile144Val)	DNAAF1 (I144V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2693009	NM_178452.6(DNAAF1):c.205_212del (p.Gly69fs)	DNAAF1 (G69fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 2685584	GRCh37/hg19 16q23.3-24.1(chr16:84179382-84326070)x1	ADAD2, DNAAF1 +3 more	Copy number loss	not provided	GUncertain significance
Select item 2685583	GRCh37/hg19 16q23.3(chr16:84025593-84179382)x1	DNAAF1, HSDL1 +3 more	Copy number loss	not provided	GUncertain significance
Select item 2646907	NM_178452.6(DNAAF1):c.1431G>A (p.Pro477=)	DNAAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646906	NM_178452.6(DNAAF1):c.1121A>T (p.Lys374Met)	DNAAF1 (K138M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2633349	NM_178452.6(DNAAF1):c.985C>T (p.Gln329Ter)	DNAAF1 (Q329* +1 more)	Single nucleotide variant (nonsense)	DNAAF1-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 2626436	NM_178452.6(DNAAF1):c.2176T>C (p.Ter726Gln)	DNAAF1	Single nucleotide variant (stop lost)	Primary ciliary dyskinesia	GUncertain significance
Select item 2625963	NM_178452.6(DNAAF1):c.1807C>T (p.Leu603=)	DNAAF1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2619761	NM_178452.6(DNAAF1):c.120G>C (p.Lys40Asn)	DNAAF1 (K40N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 2618351	NM_178452.6(DNAAF1):c.1153G>T (p.Ala385Ser)	DNAAF1 (A385S +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2612177	NM_178452.6(DNAAF1):c.165C>A (p.Asp55Glu)	DNAAF1 (D55E)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2605794	NM_178452.6(DNAAF1):c.13C>G (p.Pro5Ala)	DNAAF1 (P5A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GConflicting classifications of pathogenicity
Select item 2569293	NM_178452.6(DNAAF1):c.1990A>G (p.Thr664Ala)	DNAAF1 (T664A +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2564030	NM_178452.6(DNAAF1):c.1770G>A (p.Thr590=)	DNAAF1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2564029	NM_178452.6(DNAAF1):c.1849G>A (p.Ala617Thr)	DNAAF1 (A381T +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2550805	NM_178452.6(DNAAF1):c.194G>A (p.Ser65Asn)	DNAAF1 (S65N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2543001	NM_178452.6(DNAAF1):c.584C>G (p.Pro195Arg)	DNAAF1 (P195R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2541781	NM_178452.6(DNAAF1):c.1828T>G (p.Ser610Ala)	DNAAF1 (S610A +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2514808	NM_178452.6(DNAAF1):c.2165C>T (p.Pro722Leu)	DNAAF1 (P486L +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GConflicting classifications of pathogenicity
Select item 2494155	NM_178452.6(DNAAF1):c.596C>T (p.Thr199Ile)	DNAAF1 (T199I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2484053	NM_178452.6(DNAAF1):c.68G>A (p.Gly23Asp)	DNAAF1 (G23D)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2484052	NM_178452.6(DNAAF1):c.2039G>A (p.Ser680Asn)	DNAAF1 (S444N +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance

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