DNAAF3-AS1[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 400

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC130065082, LOC130065083 +806 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +761 more	Copy number gain	See cases	GPathogenic
Select item 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 more	Copy number gain	See cases	GPathogenic
Select item 153721	GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3	A1BG, A1BG-AS1 +547 more	Copy number gain	See cases	GPathogenic
Select item 144762	GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3	SSC5D, SYT5 +553 more	Copy number gain	See cases	GPathogenic
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	TMC4, TMEM150B +537 more	Copy number gain	See cases	GPathogenic
Select item 154108	GRCh38/hg38 19q13.42-13.43(chr19:55037146-56982033)x3	BRSK1, C19orf85 +196 more	Copy number gain	See cases	GUncertain significance
Select item 149081	GRCh38/hg38 19q13.42-13.43(chr19:55048514-56972458)x3	BRSK1, C19orf85 +194 more	Copy number gain	See cases	GLikely pathogenic
Select item 153813	GRCh38/hg38 19q13.42(chr19:55066790-55789870)x3	NAT14, NLRP11 +124 more	Copy number gain	See cases	GUncertain significance
Select item 648531	NC_000019.9:g.(?_55644273)_(55768277_?)dup	DNAAF3, DNAAF3-AS1 +18 more	Duplication	Nemaline myopathy 5 +1 more	GUncertain significance
Select item 584384	NC_000019.9:g.(?_55670410)_(55678036_?)dup	DNAAF3, DNAAF3-AS1 +1 more	Duplication	Primary ciliary dyskinesia	GUncertain significance
Select item 2958324	NM_001256715.2(DNAAF3):c.1377A>C (p.Glu459Asp)	DNAAF3, DNAAF3-AS1 (E405D +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1411674	NM_001256715.2(DNAAF3):c.1376A>C (p.Glu459Ala)	DNAAF3, DNAAF3-AS1 (E459A +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1346172	NM_001256715.2(DNAAF3):c.1372C>G (p.Gln458Glu)	DNAAF3, DNAAF3-AS1 (Q505E +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 525491	NM_001256715.2(DNAAF3):c.1368G>A (p.Lys456=)	DNAAF3, DNAAF3-AS1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3221475	NM_001256715.2(DNAAF3):c.1360T>G (p.Phe454Val)	DNAAF3, DNAAF3-AS1 (F400V +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1508944	NM_001256715.2(DNAAF3):c.1357C>T (p.Arg453Cys)	DNAAF3, DNAAF3-AS1 (R453C +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2040435	NM_001256715.2(DNAAF3):c.1354G>A (p.Ala452Thr)	DNAAF3, DNAAF3-AS1 (A398T +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1810144	NM_001256715.2(DNAAF3):c.1354G>C (p.Ala452Pro)	DNAAF3, DNAAF3-AS1 (A398P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 700663	NM_001256715.2(DNAAF3):c.1353C>T (p.Phe451=)	DNAAF3, DNAAF3-AS1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1406122	NM_001256715.2(DNAAF3):c.1333G>C (p.Ala445Pro)	DNAAF3, DNAAF3-AS1 (A512P +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 660318	NM_001256715.2(DNAAF3):c.1330G>A (p.Gly444Arg)	DNAAF3, DNAAF3-AS1 (G511R +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2166837	NM_001256715.2(DNAAF3):c.1329C>T (p.Thr443=)	DNAAF3, DNAAF3-AS1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2440894	NM_001256715.2(DNAAF3):c.1312G>T (p.Gly438Ter)	DNAAF3, DNAAF3-AS1 (G384* +3 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 2	GUncertain significance
Select item 2474009	NM_001256715.2(DNAAF3):c.1306G>A (p.Ala436Thr)	DNAAF3, DNAAF3-AS1 (A483T +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2965682	NM_001256715.2(DNAAF3):c.1294G>A (p.Glu432Lys)	DNAAF3, DNAAF3-AS1 (E378K +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1773858	NM_001256715.2(DNAAF3):c.1293G>T (p.Arg431Ser)	DNAAF3, DNAAF3-AS1 (R431S +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 582989	NM_001256715.2(DNAAF3):c.1285C>T (p.Arg429Trp)	DNAAF3, DNAAF3-AS1 (R496W +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2275268	NM_001256715.2(DNAAF3):c.1273G>C (p.Gly425Arg)	DNAAF3, DNAAF3-AS1 (G472R +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 495054	NM_001256715.2(DNAAF3):c.1271dup (p.Phe426fs)	DNAAF3, DNAAF3-AS1 (F372fs +3 more)	Duplication (frameshift variant)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely pathogenic
Select item 2961596	NM_001256715.2(DNAAF3):c.1253_1256dup (p.Gln420fs)	DNAAF3, DNAAF3-AS1 (Q366fs +3 more)	Duplication (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 287323	NM_001256715.2(DNAAF3):c.1256G>A (p.Arg419Gln)	DNAAF3, DNAAF3-AS1 (R466Q +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2746903	NM_001256715.2(DNAAF3):c.1255C>A (p.Arg419=)	DNAAF3, DNAAF3-AS1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 695337	NM_001256715.2(DNAAF3):c.1255C>T (p.Arg419Trp)	DNAAF3, DNAAF3-AS1 (R365W +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1773020	NM_001256715.2(DNAAF3):c.1253T>C (p.Val418Ala)	DNAAF3, DNAAF3-AS1 (V364A +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 410291	NM_001256715.2(DNAAF3):c.1252G>A (p.Val418Met)	DNAAF3, DNAAF3-AS1 (V485M +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 281896	NM_001256715.2(DNAAF3):c.1251C>T (p.Asp417=)	DNAAF3, DNAAF3-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 257685	NM_001256715.2(DNAAF3):c.1248G>A (p.Val416=)	DNAAF3, DNAAF3-AS1 +1 more	Single nucleotide variant (synonymous variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 756956	NM_001256715.2(DNAAF3):c.1239-9_1239-8inv	DNAAF3, DNAAF3-AS1	Inversion (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 257684	NM_001256715.2(DNAAF3):c.1239-8A>G	DNAAF3, DNAAF3-AS1 +1 more	Single nucleotide variant (intron variant)	not provided +7 more	GBenign/Likely benign
Select item 1619471	NM_001256715.2(DNAAF3):c.1239-15G>A	DNAAF3, DNAAF3-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2046746	NM_001256715.2(DNAAF3):c.1239-20A>G	DNAAF3, DNAAF3-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2155419	NM_001256715.2(DNAAF3):c.1238+20G>A	DNAAF3, DNAAF3-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2848365	NM_001256715.2(DNAAF3):c.1238+14G>A	DNAAF3, DNAAF3-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1080185	NM_001256715.2(DNAAF3):c.1238+9G>T	DNAAF3, DNAAF3-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2160533	NM_001256715.2(DNAAF3):c.1238G>A (p.Arg413Gln)	DNAAF3, DNAAF3-AS1 (R460Q +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 663573	NM_001256715.2(DNAAF3):c.1237C>T (p.Arg413Trp)	DNAAF3, DNAAF3-AS1 (R359W +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 416070	NM_001256715.2(DNAAF3):c.1227G>A (p.Val409=)	DNAAF3, DNAAF3-AS1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2156275	NM_001256715.2(DNAAF3):c.1223T>C (p.Ile408Thr)	DNAAF3, DNAAF3-AS1 (I354T +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1772260	NM_001256715.2(DNAAF3):c.1219T>C (p.Leu407=)	DNAAF3, DNAAF3-AS1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3221474	NM_001256715.2(DNAAF3):c.1218C>G (p.Asn406Lys)	DNAAF3, DNAAF3-AS1 (N352K +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2253923	NM_001256715.2(DNAAF3):c.1214G>A (p.Gly405Glu)	DNAAF3, DNAAF3-AS1 (G351E +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 454616	NM_001256715.2(DNAAF3):c.1210G>A (p.Gly404Arg)	DNAAF3, DNAAF3-AS1 (G471R +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1642146	NM_001256715.2(DNAAF3):c.1209C>T (p.Pro403=)	DNAAF3, DNAAF3-AS1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3005604	NM_001256715.2(DNAAF3):c.1206A>T (p.Ala402=)	DNAAF3, DNAAF3-AS1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 500985	NM_001256715.2(DNAAF3):c.1205C>T (p.Ala402Val)	DNAAF3, DNAAF3-AS1 (A449V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1073351	NM_001256715.2(DNAAF3):c.1195del (p.Ala399fs)	DNAAF3, DNAAF3-AS1 (A345fs +3 more)	Deletion (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 2876011	NM_001256715.2(DNAAF3):c.1182C>T (p.Ile394=)	DNAAF3, DNAAF3-AS1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3272520	NM_001256715.2(DNAAF3):c.1167G>C (p.Met389Ile)	DNAAF3, DNAAF3-AS1 (M456I +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2913410	NM_001256715.2(DNAAF3):c.1164-5T>C	DNAAF3, DNAAF3-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2719335	NM_001256715.2(DNAAF3):c.1164-8C>T	DNAAF3, DNAAF3-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1591764	NM_001256715.2(DNAAF3):c.1164-10C>G	DNAAF3, DNAAF3-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 257682	NM_001256715.2(DNAAF3):c.1164-14C>T	DNAAF3, DNAAF3-AS1 +1 more	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +6 more	GBenign/Likely benign
Select item 257683	NM_001256715.2(DNAAF3):c.1164-15C>T	DNAAF3, DNAAF3-AS1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1575681	NM_001256715.2(DNAAF3):c.1164-20G>A	DNAAF3, DNAAF3-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1279551	NM_001256715.2(DNAAF3):c.1164-116del	DNAAF3, DNAAF3-AS1	Deletion (intron variant)	not provided	GBenign
Select item 1181336	NM_001256715.2(DNAAF3):c.1163+96_1163+132del	DNAAF3, DNAAF3-AS1	Deletion (intron variant)	not provided	GBenign
Select item 238683	NM_001256715.2(DNAAF3):c.1163+10G>T	DNAAF3, DNAAF3-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +2 more	GBenign/Likely benign
Select item 2826795	NM_001256715.2(DNAAF3):c.1163+8G>A	DNAAF3, DNAAF3-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1770737	NM_001256715.2(DNAAF3):c.1157C>G (p.Ala386Gly)	DNAAF3, DNAAF3-AS1 (A386G +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 660592	NM_001256715.2(DNAAF3):c.1135C>T (p.Arg379Ter)	DNAAF3, DNAAF3-AS1 (R426* +3 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 1441844	NM_001256715.2(DNAAF3):c.1132G>A (p.Gly378Ser)	DNAAF3, DNAAF3-AS1 (G425S +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3221473	NM_001256715.2(DNAAF3):c.1131C>G (p.Asn377Lys)	DNAAF3, DNAAF3-AS1 (N323K +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 799413	NM_001256715.2(DNAAF3):c.1131C>T (p.Asn377=)	DNAAF3, DNAAF3-AS1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1646619	NM_001256715.2(DNAAF3):c.1124G>A (p.Cys375Tyr)	DNAAF3, DNAAF3-AS1 (C321Y +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GBenign
Select item 1413668	NM_001256715.2(DNAAF3):c.1111C>T (p.His371Tyr)	DNAAF3, DNAAF3-AS1 (H317Y +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 858384	NM_001256715.2(DNAAF3):c.1109_1110del (p.Leu370fs)	DNAAF3, DNAAF3-AS1 (L370fs +3 more)	Microsatellite (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 2267161	NM_001256715.2(DNAAF3):c.1108C>T (p.Leu370Phe)	DNAAF3, DNAAF3-AS1 (L316F +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1769419	NM_001256715.2(DNAAF3):c.1100C>A (p.Ala367Asp)	DNAAF3, DNAAF3-AS1 (A434D +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 369296	NM_001256715.2(DNAAF3):c.1093= (p.Asn365=)	DNAAF3, DNAAF3-AS1 +1 more	Single nucleotide variant (no sequence alteration)	Primary ciliary dyskinesia 2 +6 more	GBenign/Likely benign
Select item 1595659	NM_001256715.2(DNAAF3):c.1089G>A (p.Pro363=)	DNAAF3, DNAAF3-AS1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2397721	NM_001256715.2(DNAAF3):c.1088C>T (p.Pro363Leu)	DNAAF3, DNAAF3-AS1 (P363L +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3368126	NM_001256715.2(DNAAF3):c.1075G>T (p.Val359Phe)	DNAAF3, DNAAF3-AS1 (V305F +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 953685	NM_001256715.2(DNAAF3):c.1075G>A (p.Val359Ile)	DNAAF3, DNAAF3-AS1 (V426I +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 454614	NM_001256715.2(DNAAF3):c.1074C>T (p.Thr358=)	DNAAF3, DNAAF3-AS1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2650514	NM_001256715.2(DNAAF3):c.1062G>C (p.Pro354=)	DNAAF3, DNAAF3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 257681	NM_001256715.2(DNAAF3):c.1056G>C (p.Pro352=)	DNAAF3-AS1, DNAAF3	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 257680	NM_001256715.2(DNAAF3):c.1056G>A (p.Pro352=)	DNAAF3, DNAAF3-AS1 +1 more	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +7 more	GBenign/Likely benign
Select item 2119734	NM_001256715.2(DNAAF3):c.1055C>T (p.Pro352Leu)	DNAAF3, DNAAF3-AS1 (P419L +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2843209	NM_001256715.2(DNAAF3):c.1051G>A (p.Ala351Thr)	DNAAF3, DNAAF3-AS1 (A398T +2 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 330211	NM_001256715.2(DNAAF3):c.1049-1G>A	DNAAF3, DNAAF3-AS1	Single nucleotide variant (splice acceptor variant +1 more)	Primary ciliary dyskinesia	GConflicting classifications of pathogenicity
Select item 218560	NM_001256715.2(DNAAF3):c.1049-3C>T	DNAAF3, DNAAF3-AS1	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1274101	NM_001256715.2(DNAAF3):c.1048+287T>C	DNAAF3, DNAAF3-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242037	NM_001256715.2(DNAAF3):c.1048+278C>T	DNAAF3, DNAAF3-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183037	NM_001256715.2(DNAAF3):c.1048+202_1048+206dup	DNAAF3, DNAAF3-AS1	Duplication (intron variant)	not provided	GLikely benign
Select item 1260680	NM_001256715.2(DNAAF3):c.1048+14_1048+34del	DNAAF3, DNAAF3-AS1	Deletion (splice donor variant)	not provided +1 more	GBenign
Select item 1618957	NM_001256715.2(DNAAF3):c.1048+12ACA[2]	DNAAF3, DNAAF3-AS1	Microsatellite (intron variant)	Primary ciliary dyskinesia	GLikely benign

<< First< Prev

Page of 4