DNAAF11[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1153 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130000987, LOC130000988 +1205 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001173, LOC130001174 +1068 more	Copy number gain	See cases	GPathogenic
Select item 57045	GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	LOC130001070, LOC130001071 +962 more	Copy number gain	See cases	GPathogenic
Select item 2579176	GRCh38/hg38 8q23.3-24.23(chr8:115586904-135607135)x3	LOC130001241, LOC130001242 +559 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 148271	GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3	ADCK5, ADCY8 +746 more	Copy number gain	See cases	GPathogenic
Select item 33826	GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3	LOC130001144, LOC130001145 +745 more	Copy number gain	See cases	GPathogenic
Select item 57179	GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3	ADCK5, ADCY8 +567 more	Copy number gain	See cases	GPathogenic
Select item 57119	GRCh38/hg38 8q24.21-24.22(chr8:129176782-134170188)x1	ADCY8, ASAP1 +131 more	Copy number loss	See cases	GPathogenic
Select item 144139	GRCh38/hg38 8q24.21-24.3(chr8:130115518-141228210)x3	CCN4, CHRAC1 +206 more	Copy number gain	See cases	GPathogenic
Select item 148571	GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3	EPPK1, ERICD +499 more	Copy number gain	See cases	GPathogenic
Select item 911879	NM_012472.6(DNAAF11):c.*239T>C	DNAAF11	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 911880	NM_012472.6(DNAAF11):c.*197C>G	DNAAF11	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 19	GUncertain significance
Select item 908930	NM_012472.6(DNAAF11):c.*193A>G	DNAAF11	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 908931	NM_012472.6(DNAAF11):c.*179A>G	DNAAF11	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 19	GUncertain significance
Select item 908932	NM_012472.6(DNAAF11):c.*73A>T	DNAAF11	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 19	GUncertain significance
Select item 908933	NM_012472.6(DNAAF11):c.*68T>G	DNAAF11	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 19	GUncertain significance
Select item 908934	NM_012472.6(DNAAF11):c.*63C>A	DNAAF11	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 19	GUncertain significance
Select item 908935	NM_012472.6(DNAAF11):c.*32C>A	DNAAF11	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 19	GUncertain significance
Select item 908936	NM_012472.6(DNAAF11):c.*5T>G	DNAAF11	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 260274	NM_012472.6(DNAAF11):c.1397T>C (p.Ile466Thr)	DNAAF11 (I466T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 2725940	NM_012472.6(DNAAF11):c.1392G>A (p.Pro464=)	DNAAF11	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 19	GBenign
Select item 1681024	NM_012472.6(DNAAF11):c.1392G>C (p.Pro464=)	DNAAF11	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 19	GBenign
Select item 260273	NM_012472.6(DNAAF11):c.1391C>T (p.Pro464Leu)	DNAAF11 (P464L +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2282926	NM_012472.6(DNAAF11):c.1390C>T (p.Pro464Ser)	DNAAF11 (P324S +4 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3020919	NM_012472.6(DNAAF11):c.1386G>A (p.Val462=)	DNAAF11	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 19	GLikely benign
Select item 260272	NM_012472.6(DNAAF11):c.1343T>C (p.Ile448Thr)	DNAAF11 (I448T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 2070622	NM_012472.6(DNAAF11):c.1335C>G (p.Pro445=)	DNAAF11	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 19	GLikely benign
Select item 3083322	NM_012472.6(DNAAF11):c.1328C>T (p.Pro443Leu)	DNAAF11 (P323L +4 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1968320	NM_012472.6(DNAAF11):c.1325G>A (p.Arg442Gln)	DNAAF11 (R302Q +4 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 19	GUncertain significance
Select item 656966	NM_012472.6(DNAAF11):c.1324C>T (p.Arg442Ter)	DNAAF11 (R422* +4 more)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia 19 +1 more	GUncertain significance
Select item 1997061	NM_012472.6(DNAAF11):c.1317C>G (p.Pro439=)	DNAAF11	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 19	GLikely benign
Select item 721571	NM_012472.6(DNAAF11):c.1305A>G (p.Lys435=)	DNAAF11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 361900	NM_012472.6(DNAAF11):c.1300G>A (p.Glu434Lys)	DNAAF11 (E434K +4 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 19	GUncertain significance
Select item 568271	NM_012472.6(DNAAF11):c.1294G>T (p.Val432Phe)	DNAAF11 (V432F +4 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 19	GUncertain significance
Select item 1164571	NM_012472.6(DNAAF11):c.1293A>C (p.Ile431=)	DNAAF11	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 19 +2 more	GBenign/Likely benign
Select item 1681025	NM_012472.6(DNAAF11):c.1284G>A (p.Val428=)	DNAAF11	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 19	GLikely benign
Select item 730337	NM_012472.6(DNAAF11):c.1281T>C (p.Asp427=)	DNAAF11	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 2756519	NM_012472.6(DNAAF11):c.1272A>G (p.Ser424=)	DNAAF11	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 19	GLikely benign
Select item 2042268	NM_012472.6(DNAAF11):c.1271C>T (p.Ser424Leu)	DNAAF11 (S342L +4 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 19	GUncertain significance
Select item 1799855	NM_012472.6(DNAAF11):c.1268A>G (p.His423Arg)	DNAAF11 (H283R +4 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 473105	NM_012472.6(DNAAF11):c.1258C>A (p.Pro420Thr)	DNAAF11 (P420T +4 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 19	GUncertain significance
Select item 260271	NM_012472.6(DNAAF11):c.1245A>G (p.Lys415=)	DNAAF11	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 1243891	NM_012472.6(DNAAF11):c.1227-93C>T	DNAAF11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295750	NM_012472.6(DNAAF11):c.1227-179G>A	DNAAF11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280536	NM_012472.6(DNAAF11):c.1227-221dup	DNAAF11	Duplication (intron variant)	not provided	GBenign
Select item 1285876	NM_012472.6(DNAAF11):c.1226+256A>G	DNAAF11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197238	NM_012472.6(DNAAF11):c.1226+33T>G	DNAAF11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2716822	NM_012472.6(DNAAF11):c.1226+17C>T	DNAAF11	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 19	GLikely benign
Select item 3006643	NM_012472.6(DNAAF11):c.1226+10T>A	DNAAF11	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 19	GLikely benign
Select item 767223	NM_012472.6(DNAAF11):c.1226+6A>G	DNAAF11	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 19	GLikely benign
Select item 860454	NM_012472.6(DNAAF11):c.1226+1G>A	DNAAF11	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia 19	GPathogenic
Select item 909800	NM_012472.6(DNAAF11):c.1223C>G (p.Thr408Arg)	DNAAF11 (T388R +4 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 19	GUncertain significance
Select item 837976	NM_012472.6(DNAAF11):c.1211A>C (p.Glu404Ala)	DNAAF11 (E322A +4 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 19	GUncertain significance
Select item 260270	NM_012472.6(DNAAF11):c.1197G>A (p.Ser399=)	DNAAF11	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 972364	NM_012472.6(DNAAF11):c.1186A>G (p.Lys396Glu)	DNAAF11 (K276E +4 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 19	GUncertain significance
Select item 2480095	NM_012472.6(DNAAF11):c.1178A>C (p.Lys393Thr)	DNAAF11 (K311T +4 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 361901	NM_012472.6(DNAAF11):c.1178A>G (p.Lys393Arg)	DNAAF11 (K393R +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Primary ciliary dyskinesia 19	GUncertain significance
Select item 2447541	NM_012472.6(DNAAF11):c.1173A>G (p.Ala391=)	DNAAF11	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 1335719	NM_012472.6(DNAAF11):c.1168C>T (p.Arg390Ter)	DNAAF11 (R250* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2913002	NM_012472.6(DNAAF11):c.1167G>A (p.Gln389=)	DNAAF11	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 19	GLikely benign
Select item 260269	NM_012472.6(DNAAF11):c.1162G>A (p.Gly388Ser)	DNAAF11 (G388S +4 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +3 more	GConflicting classifications of pathogenicity
Select item 2619125	NM_012472.6(DNAAF11):c.1148A>T (p.Glu383Val)	DNAAF11 (E243V +4 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 1980976	NM_012472.6(DNAAF11):c.1142T>A (p.Val381Glu)	DNAAF11 (V261E +4 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 19	GUncertain significance
Select item 1526036	NM_012472.6(DNAAF11):c.1142del (p.Val381fs)	DNAAF11 (V241fs +4 more)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia 19	GPathogenic
Select item 2913116	NM_012472.6(DNAAF11):c.1141-7A>G	DNAAF11	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 19	GLikely benign
Select item 1681026	NM_012472.6(DNAAF11):c.1141-18G>A	DNAAF11	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 19	GLikely benign
Select item 1186500	NM_012472.6(DNAAF11):c.1141-173G>A	DNAAF11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2845864	NM_012472.6(DNAAF11):c.1140+11T>A	DNAAF11	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 19	GLikely benign
Select item 473104	NM_012472.6(DNAAF11):c.1140+10G>A	DNAAF11	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 19	GLikely benign
Select item 2138229	NM_012472.6(DNAAF11):c.1140+6T>A	DNAAF11	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 19	GUncertain significance
Select item 1681027	NM_012472.6(DNAAF11):c.1140+3A>G	DNAAF11	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 19	GUncertain significance
Select item 2625021	NM_012472.6(DNAAF11):c.1138A>C (p.Lys380Gln)	DNAAF11 (K260Q +4 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 1799643	NM_012472.6(DNAAF11):c.1133T>C (p.Met378Thr)	DNAAF11 (M238T +4 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1681028	NM_012472.6(DNAAF11):c.1118A>G (p.His373Arg)	DNAAF11 (H233R +4 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 19	GUncertain significance
Select item 2334421	NM_012472.6(DNAAF11):c.1117C>A (p.His373Asn)	DNAAF11 (H233N +4 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 361902	NM_012472.6(DNAAF11):c.1109C>G (p.Thr370Arg)	DNAAF11 (T370R +4 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 19 +1 more	GUncertain significance
Select item 473103	NM_012472.6(DNAAF11):c.1096A>G (p.Lys366Glu)	DNAAF11 (K366E +4 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 19 +1 more	GUncertain significance
Select item 473102	NM_012472.6(DNAAF11):c.1084AGT[1] (p.Ser364del)	DNAAF11 (S364del +4 more)	Microsatellite (inframe_deletion +1 more)	Primary ciliary dyskinesia 19	GUncertain significance
Select item 575268	NM_012472.6(DNAAF11):c.1081G>A (p.Asp361Asn)	DNAAF11 (D361N +4 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 19	GUncertain significance
Select item 1681029	NM_012472.6(DNAAF11):c.1068A>G (p.Ala356=)	DNAAF11	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 19	GLikely benign
Select item 1800269	NM_012472.6(DNAAF11):c.1059C>T (p.Val353=)	DNAAF11	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2487608	NM_012472.6(DNAAF11):c.1054C>G (p.Leu352Val)	DNAAF11 (L270V +4 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 540328	NM_012472.6(DNAAF11):c.1050del (p.Gln351fs)	DNAAF11 (Q211fs +4 more)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia 19	GPathogenic
Select item 1245404	NM_012472.6(DNAAF11):c.1045-126A>C	DNAAF11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195863	NM_012472.6(DNAAF11):c.1044+257C>T	DNAAF11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 910702	NM_012472.6(DNAAF11):c.1044+12C>A	DNAAF11	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 19	GUncertain significance

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