DNAI1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	LOC130001767, LOC130001768 +1006 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	CDKN2B, CDKN2B-AS1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	LOC130001680, LOC130001681 +1062 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	LOC124210611, LOC124210612 +1120 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	LOC130001484, LOC130001485 +883 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LOC130001854, LOC130001855 +1367 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150341	GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	LOC130001585, LOC130001586 +984 more	Copy number gain	See cases	GPathogenic
Select item 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	LOC130001507, LOC130001508 +899 more	Copy number gain	See cases	GPathogenic
Select item 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	LOC130001746, LOC130001747 +980 more	Copy number gain	See cases	GPathogenic
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ACER2, ACO1 +899 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 57406	GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	SPATA31F3, SPATA31G1 +898 more	Copy number gain	See cases	GPathogenic
Select item 32288	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ANKRD18B, APTX +899 more	Copy number gain	See cases	GPathogenic
Select item 59876	GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3	ACER2, ACO1 +894 more	Copy number gain	See cases	GPathogenic
Select item 148673	GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3	ACER2, ACO1 +586 more	Copy number gain	See cases	GPathogenic
Select item 151755	GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015)	ACER2, ACO1 +691 more	Copy number gain	See cases	GPathogenic
Select item 154223	GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3	ACO1, ALDH1B1 +436 more	Copy number gain	See cases	GLikely pathogenic
Select item 153185	GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3	ACO1, ALDH1B1 +504 more	Copy number gain	See cases	GPathogenic
Select item 144347	GRCh38/hg38 9p13.3-13.1(chr9:33225730-38529813)x3	ALDH1B1, ANKRD18B +360 more	Copy number gain	See cases	GPathogenic
Select item 1707453	GRCh38/hg38 9p13.3(chr9:33492358-34725916)x4	ANKRD18B, ARID3C +71 more	Copy number gain	not specified	GUncertain significance
Select item 145374	GRCh38/hg38 9p13.3-13.2(chr9:33572681-36782015)x1	PTENP1-AS, RECK +211 more	Copy number loss	See cases	GPathogenic
Select item 155431	GRCh38/hg38 9p13.3(chr9:33646893-34484057)x3	DCAF12, DNAI1 +37 more	Copy number gain	See cases	GUncertain significance
Select item 366678	NM_012144.4(DNAI1):c.-180G>A	DNAI1, LOC113839546	Single nucleotide variant (5 prime UTR variant)	Kartagener syndrome	GUncertain significance
Select item 366679	NM_012144.4(DNAI1):c.-178G>C	DNAI1, LOC113839546	Single nucleotide variant (5 prime UTR variant)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 366680	NM_012144.4(DNAI1):c.-170T>A	DNAI1, LOC113839546	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 366681	NM_012144.4(DNAI1):c.-145C>T	DNAI1, LOC113839546	Single nucleotide variant (5 prime UTR variant)	Kartagener syndrome	GUncertain significance
Select item 913580	NM_012144.4(DNAI1):c.-116T>C	DNAI1, LOC113839546	Single nucleotide variant (5 prime UTR variant)	Kartagener syndrome	GLikely benign
Select item 366682	NM_012144.4(DNAI1):c.-83G>C	DNAI1, LOC113839546	Single nucleotide variant (5 prime UTR variant)	Kartagener syndrome	GUncertain significance
Select item 366683	NM_012144.4(DNAI1):c.-41T>C	DNAI1	Single nucleotide variant (5 prime UTR variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2026405	NM_012144.4(DNAI1):c.-1_4del (p.Met1fs)	DNAI1 (M1fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2794739	NM_012144.4(DNAI1):c.1A>G (p.Met1Val)	DNAI1 (M1V)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2139423	NM_012144.4(DNAI1):c.7C>T (p.Pro3Ser)	DNAI1 (P3S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2749400	NM_012144.4(DNAI1):c.15T>C (p.Ser5=)	DNAI1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2993401	NM_012144.4(DNAI1):c.18G>A (p.Ala6=)	DNAI1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 953878	NM_012144.4(DNAI1):c.22G>C (p.Ala8Pro)	DNAI1 (A8P)	Single nucleotide variant (missense variant)	Kartagener syndrome +1 more	GUncertain significance
Select item 178761	NM_012144.4(DNAI1):c.22G>T (p.Ala8Ser)	DNAI1 (A8S)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 3226200	NM_012144.4(DNAI1):c.25C>G (p.Pro9Ala)	DNAI1 (P9A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1607604	NM_012144.4(DNAI1):c.27C>T (p.Pro9=)	DNAI1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 580210	NM_012144.4(DNAI1):c.40C>T (p.His14Tyr)	DNAI1 (H14Y)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GConflicting classifications of pathogenicity
Select item 2022304	NM_012144.4(DNAI1):c.43A>T (p.Lys15Ter)	DNAI1 (K15*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 1979901	NM_012144.4(DNAI1):c.45G>T (p.Lys15Asn)	DNAI1 (K15N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 228610	NM_012144.4(DNAI1):c.47A>G (p.Gln16Arg)	DNAI1 (Q16R)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1743973	NM_012144.4(DNAI1):c.48G>T (p.Gln16His)	DNAI1 (Q16H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2125831	NM_012144.4(DNAI1):c.48+1G>T	DNAI1	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 1502365	NM_012144.4(DNAI1):c.48+1G>C	DNAI1	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 5604	NM_012144.4(DNAI1):c.48+2dup	DNAI1	Duplication (splice donor variant)	Primary ciliary dyskinesia +3 more	GPathogenic
Select item 566665	NM_012144.4(DNAI1):c.48+3A>G	DNAI1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1934874	NM_012144.4(DNAI1):c.48+6G>A	DNAI1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 583142	NM_012144.4(DNAI1):c.48+6G>C	DNAI1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2919157	NM_012144.4(DNAI1):c.48+9C>T	DNAI1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1091722	NM_012144.4(DNAI1):c.48+9C>G	DNAI1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2783402	NM_012144.4(DNAI1):c.48+10G>T	DNAI1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1561840	NM_012144.4(DNAI1):c.48+10G>A	DNAI1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2905200	NM_012144.4(DNAI1):c.48+13C>T	DNAI1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3013788	NM_012144.4(DNAI1):c.48+14A>G	DNAI1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1604412	NM_012144.4(DNAI1):c.48+16C>T	DNAI1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2713573	NM_012144.4(DNAI1):c.48+19C>T	DNAI1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1220568	NM_012144.4(DNAI1):c.48+215G>A	DNAI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193075	NM_012144.4(DNAI1):c.49-250del	DNAI1	Deletion (intron variant)	not provided	GLikely benign
Select item 2963889	NM_012144.4(DNAI1):c.49-16del	DNAI1	Deletion (intron variant)	Primary ciliary dyskinesia	GBenign
Select item 1959376	NM_012144.4(DNAI1):c.49-10C>T	DNAI1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2088466	NM_012144.4(DNAI1):c.49-7C>T	DNAI1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1079171	NM_012144.4(DNAI1):c.49-4T>G	DNAI1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 942087	NM_012144.4(DNAI1):c.49-1G>C	DNAI1	Single nucleotide variant (splice acceptor variant)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 1533322	NM_012144.4(DNAI1):c.51C>T (p.Ser17=)	DNAI1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2195239	NM_012144.4(DNAI1):c.60A>C (p.Ile20=)	DNAI1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3346484	NM_012144.4(DNAI1):c.73del (p.Arg25fs)	DNAI1 (R25fs)	Deletion (frameshift variant)	DNAI1-related disorder	GLikely pathogenic
Select item 1093335	NM_012144.4(DNAI1):c.75G>A (p.Arg25=)	DNAI1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1144506	NM_012144.4(DNAI1):c.78G>A (p.Lys26=)	DNAI1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 95492	NM_012144.4(DNAI1):c.81+5del	DNAI1	Deletion (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2803657	NM_012144.4(DNAI1):c.81+11A>G	DNAI1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2186884	NM_012144.4(DNAI1):c.81+12G>C	DNAI1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2986951	NM_012144.4(DNAI1):c.81+14C>G	DNAI1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1580475	NM_012144.4(DNAI1):c.81+17_81+18dup	DNAI1	Duplication (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2912232	NM_012144.4(DNAI1):c.81+18C>T	DNAI1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1601216	NM_012144.4(DNAI1):c.81+20T>C	DNAI1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GBenign
Select item 1090330	NM_012144.4(DNAI1):c.81+61A>G	DNAI1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 2709136	NM_012144.4(DNAI1):c.82-12del	DNAI1	Deletion (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1533353	NM_012144.4(DNAI1):c.82-12G>A	DNAI1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2854307	NM_012144.4(DNAI1):c.82-11T>C	DNAI1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2709137	NM_012144.4(DNAI1):c.82-11T>A	DNAI1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1549048	NM_012144.4(DNAI1):c.82-8T>C	DNAI1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2973242	NM_012144.4(DNAI1):c.82-6G>A	DNAI1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1962097	NM_012144.4(DNAI1):c.82G>T (p.Asp28Tyr)	DNAI1 (D28Y)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2008295	NM_012144.4(DNAI1):c.92C>G (p.Ser31Ter)	DNAI1 (S31*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 2706312	NM_012144.4(DNAI1):c.93A>G (p.Ser31=)	DNAI1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2982963	NM_012144.4(DNAI1):c.96G>A (p.Gly32=)	DNAI1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1199338	NM_012144.4(DNAI1):c.98C>T (p.Thr33Ile)	DNAI1 (T33I)	Single nucleotide variant (missense variant)	Kartagener syndrome	GUncertain significance
Select item 1108613	NM_012144.4(DNAI1):c.108A>G (p.Gly36=)	DNAI1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2162624	NM_012144.4(DNAI1):c.112G>A (p.Gly38Ser)	DNAI1 (G38S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 965866	NM_012144.4(DNAI1):c.119A>G (p.Asp40Gly)	DNAI1 (D40G)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GConflicting classifications of pathogenicity
Select item 2772680	NM_012144.4(DNAI1):c.120T>C (p.Asp40=)	DNAI1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign

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