DNAI1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Primary ciliary dyskinesia +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)	DNAI1-related disorder +2 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 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 specified +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)	not provided +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
Select item 2883338	NM_012144.4(DNAI1):c.123A>G (p.Glu41=)	DNAI1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1634853	NM_012144.4(DNAI1):c.132A>G (p.Gln44=)	DNAI1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2241754	NM_012144.4(DNAI1):c.133T>G (p.Ser45Ala)	DNAI1 (S45A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2726913	NM_012144.4(DNAI1):c.139del (p.Ala47fs)	DNAI1 (A47fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 1904636	NM_012144.4(DNAI1):c.139G>A (p.Ala47Thr)	DNAI1 (A47T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2899947	NM_012144.4(DNAI1):c.144A>G (p.Thr48=)	DNAI1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1071038	NM_012144.4(DNAI1):c.146_149del (p.Val49fs)	DNAI1 (V49fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 728017	NM_012144.4(DNAI1):c.153C>A (p.Pro51=)	DNAI1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 411805	NM_012144.4(DNAI1):c.156del (p.Asp53fs)	DNAI1 (D53fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 944367	NM_012144.4(DNAI1):c.163del (p.Leu55fs)	DNAI1 (L55fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 2151532	NM_012144.4(DNAI1):c.164T>C (p.Leu55Pro)	DNAI1 (L55P)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1105781	NM_012144.4(DNAI1):c.165G>A (p.Leu55=)	DNAI1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 366684	NM_012144.4(DNAI1):c.169T>C (p.Leu57=)	DNAI1	Single nucleotide variant (synonymous variant)	DNAI1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2123812	NM_012144.4(DNAI1):c.174C>A (p.Thr58=)	DNAI1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 700606	NM_012144.4(DNAI1):c.174C>T (p.Thr58=)	DNAI1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3084248	NM_012144.4(DNAI1):c.175G>A (p.Asp59Asn)	DNAI1 (D59N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1071575	NM_012144.4(DNAI1):c.178dup (p.Ala60fs)	DNAI1 (A60fs)	Duplication (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 220825	NM_012144.4(DNAI1):c.177T>C (p.Asp59=)	DNAI1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2155242	NM_012144.4(DNAI1):c.178G>A (p.Ala60Thr)	DNAI1 (A60T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 163163	NM_012144.4(DNAI1):c.179C>T (p.Ala60Val)	DNAI1 (A60V)	Single nucleotide variant (missense variant)	Kartagener syndrome +3 more	GBenign/Likely benign
Select item 1525651	NM_012144.4(DNAI1):c.180G>T (p.Ala60=)	DNAI1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 260201	NM_012144.4(DNAI1):c.180G>A (p.Ala60=)	DNAI1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 1514662	NM_012144.4(DNAI1):c.180+1G>A	DNAI1	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 1066601	NM_012144.4(DNAI1):c.180+1G>T	DNAI1	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 643811	NM_012144.4(DNAI1):c.180+2T>G	DNAI1	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 2741808	NM_012144.4(DNAI1):c.180+14C>T	DNAI1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2996047	NM_012144.4(DNAI1):c.180+19G>A	DNAI1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2172055	NM_012144.4(DNAI1):c.180+20T>C	DNAI1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2888642	NM_012144.4(DNAI1):c.181-15A>G	DNAI1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2965524	NM_012144.4(DNAI1):c.181-7C>A	DNAI1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1136518	NM_012144.4(DNAI1):c.181-5C>T	DNAI1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2860223	NM_012144.4(DNAI1):c.181-2A>T	DNAI1	Single nucleotide variant (splice acceptor variant)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 913965	NM_012144.4(DNAI1):c.181G>A (p.Glu61Lys)	DNAI1 (E61K)	Single nucleotide variant (missense variant)	Kartagener syndrome	GUncertain significance
Select item 1124087	NM_012144.4(DNAI1):c.189G>A (p.Lys63=)	DNAI1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1556831	NM_012144.4(DNAI1):c.192G>A (p.Glu64=)	DNAI1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2883709	NM_012144.4(DNAI1):c.193G>T (p.Glu65Ter)	DNAI1 (E65*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 2563373	NM_012144.4(DNAI1):c.194_196dup (p.Phe66Ter)	DNAI1 (F66*)	Duplication (nonsense)	Primary ciliary dyskinesia	GPathogenic

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