ClinVar for Gene (Select 64446) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3045458	NM_023036.6(DNAI2):c.-7C>T	DNAI2	Single nucleotide variant (5 prime UTR variant +1 more)	DNAI2-related condition	GLikely benign
Select item 3023576	NM_023036.6(DNAI2):c.1077C>T (p.Thr359=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 3022551	NM_023036.6(DNAI2):c.750C>T (p.Ser250=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 3021417	NM_023036.6(DNAI2):c.865-7C>A	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3020965	NM_023036.6(DNAI2):c.1348-18G>T	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3020499	NM_023036.6(DNAI2):c.183+12C>T	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3014557	NM_023036.6(DNAI2):c.1347+13T>A	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3013678	NM_023036.6(DNAI2):c.1722+15A>G	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3011529	NM_023036.6(DNAI2):c.1723-17G>A	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3009654	NM_023036.6(DNAI2):c.1494+12G>C	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3006875	NM_023036.6(DNAI2):c.1716A>C (p.Pro572=)	DNAI2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2995962	NM_023036.6(DNAI2):c.467+17G>T	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2993848	NM_023036.6(DNAI2):c.346-13G>A	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2993430	NM_023036.6(DNAI2):c.345+19C>A	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2990931	NM_023036.6(DNAI2):c.1348-14G>T	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2990255	NM_023036.6(DNAI2):c.300G>A (p.Val100=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2987792	NM_023036.6(DNAI2):c.1495-14C>T	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2986081	NM_023036.6(DNAI2):c.459T>C (p.Asn153=)	DNAI2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2983584	NM_023036.6(DNAI2):c.1047C>T (p.Ala349=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2982706	NM_023036.6(DNAI2):c.1227C>T (p.Tyr409=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2979923	NM_023036.6(DNAI2):c.618del (p.Asn207fs)	DNAI2 (N207fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2974857	NM_023036.6(DNAI2):c.988-16G>A	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2969995	NM_023036.6(DNAI2):c.864+14A>G	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2967986	NM_023036.6(DNAI2):c.1433del (p.Leu478fs)	DNAI2 (L478fs +1 more)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2963204	NM_023036.6(DNAI2):c.1494+20G>A	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2962403	NM_023036.6(DNAI2):c.1212-20_1212-19del	DNAI2	Deletion (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2958823	NM_023036.6(DNAI2):c.724+20T>G	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2956480	NM_023036.6(DNAI2):c.1348-15C>T	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2955335	NM_023036.6(DNAI2):c.1239T>C (p.Ala413=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2919079	NM_023036.6(DNAI2):c.576G>A (p.Val192=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2917554	NM_023036.6(DNAI2):c.725-13_725-11del	DNAI2	Deletion (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2915032	NM_023036.6(DNAI2):c.1141C>T (p.Leu381=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2911025	NM_023036.6(DNAI2):c.1347+18C>T	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2905637	NM_023036.6(DNAI2):c.864+19C>T	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2898690	NM_023036.6(DNAI2):c.1674A>G (p.Ala558=)	DNAI2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2897915	NM_023036.6(DNAI2):c.66C>T (p.Asp22=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2896492	NM_023036.6(DNAI2):c.468-12T>C	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2889836	NM_023036.6(DNAI2):c.1236T>C (p.Asp412=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2887980	NM_023036.6(DNAI2):c.475del (p.Gln159fs)	DNAI2 (Q159fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2882516	NM_023036.6(DNAI2):c.1182C>T (p.Asp394=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2882513	NM_023036.6(DNAI2):c.864+16A>C	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2882333	NM_023036.6(DNAI2):c.1653G>A (p.Glu551=)	DNAI2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2880621	NM_023036.6(DNAI2):c.1495-2A>T	DNAI2	Single nucleotide variant (splice acceptor variant)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 2876406	NM_023036.6(DNAI2):c.1113G>A (p.Gln371=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2875586	NM_023036.6(DNAI2):c.987+14dup	DNAI2	Duplication (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2869156	NM_023036.6(DNAI2):c.90C>T (p.Asp30=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2869056	NM_023036.6(DNAI2):c.1600del (p.Asp534fs)	DNAI2 (D522fs +1 more)	Deletion (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 2868026	NM_023036.6(DNAI2):c.1428C>G (p.Thr476=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2867403	NM_023036.6(DNAI2):c.1211+17G>T	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2864406	NM_023036.6(DNAI2):c.1723-9C>G	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2864272	NM_023036.6(DNAI2):c.1448del (p.Pro483fs)	DNAI2 (P471fs +1 more)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2863702	NM_023036.6(DNAI2):c.1509G>A (p.Glu503=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2861522	NM_023036.6(DNAI2):c.183+15C>T	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2860336	NM_023036.6(DNAI2):c.467+14C>G	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2858315	NM_023036.6(DNAI2):c.1005G>C (p.Val335=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2856966	NM_023036.6(DNAI2):c.1441del (p.Val481fs)	DNAI2 (V469fs +1 more)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2856831	NM_023036.6(DNAI2):c.780C>T (p.Ser260=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2853902	NM_023036.6(DNAI2):c.611-19A>T	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2853468	NM_023036.6(DNAI2):c.1045_1057del (p.Ala349fs)	DNAI2 (A349fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2850354	NM_023036.6(DNAI2):c.184-15C>T	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2846937	NM_023036.6(DNAI2):c.300G>C (p.Val100=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2845492	NM_023036.6(DNAI2):c.184-13G>A	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2845480	NM_023036.6(DNAI2):c.183+20G>T	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2842489	NM_023036.6(DNAI2):c.606C>T (p.Asp202=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2839527	NM_023036.6(DNAI2):c.864+10A>T	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2837780	NM_023036.6(DNAI2):c.1495-2_1495-1delinsTT	DNAI2	Indel (splice acceptor variant)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 2836226	NM_023036.6(DNAI2):c.1326C>A (p.Cys442Ter)	DNAI2 (C442*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2835863	NM_023036.6(DNAI2):c.1515G>A (p.Arg505=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2832264	NM_023036.6(DNAI2):c.30G>A (p.Lys10=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2831289	NM_023036.6(DNAI2):c.412G>T (p.Glu138Ter)	DNAI2 (E138*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 2829426	NM_023036.6(DNAI2):c.1495-12C>T	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2829314	NM_023036.6(DNAI2):c.610+1G>T	DNAI2	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 2825546	NM_023036.6(DNAI2):c.654A>T (p.Pro218=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2822930	NM_023036.6(DNAI2):c.1473T>C (p.Asn491=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2821872	NM_023036.6(DNAI2):c.1323G>A (p.Gln441=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2819782	NM_023036.6(DNAI2):c.1161A>G (p.Thr387=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2809975	NM_023036.6(DNAI2):c.357C>T (p.His119=)	DNAI2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2809901	NM_023036.6(DNAI2):c.405T>C (p.Asn135=)	DNAI2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2809691	NM_023036.6(DNAI2):c.1347+19C>T	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2809654	NM_023036.6(DNAI2):c.1665C>A (p.Ile555=)	DNAI2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2809630	NM_023036.6(DNAI2):c.1245G>A (p.Trp415Ter)	DNAI2 (W415*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2805442	NM_023036.6(DNAI2):c.1347+14C>A	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2804792	NM_023036.6(DNAI2):c.660G>T (p.Val220=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2801461	NM_023036.6(DNAI2):c.562C>T (p.Gln188Ter)	DNAI2 (Q188*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2799923	NM_023036.6(DNAI2):c.444A>T (p.Ser148=)	DNAI2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2798708	NM_023036.6(DNAI2):c.611-19A>C	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2798330	NM_023036.6(DNAI2):c.1818G>A (p.Ter606=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2798031	NM_023036.6(DNAI2):c.1723-20T>C	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2791977	NM_023036.6(DNAI2):c.1211+7G>A	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2791357	NM_023036.6(DNAI2):c.1440G>A (p.Glu480=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2788202	NM_023036.6(DNAI2):c.262del (p.Leu88fs)	DNAI2 (L88fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2783609	NM_023036.6(DNAI2):c.1416G>A (p.Gln472=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2781719	NM_023036.6(DNAI2):c.1348-11C>G	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2772147	NM_023036.6(DNAI2):c.1722+15_1722+16del	DNAI2	Deletion (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2769958	NM_023036.6(DNAI2):c.1347+10A>G	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2769816	NM_023036.6(DNAI2):c.228T>C (p.His76=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2769398	NM_023036.6(DNAI2):c.611-7T>C	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2769290	NM_023036.6(DNAI2):c.861G>A (p.Gly287=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2768895	NM_023036.6(DNAI2):c.184-20T>G	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2764213	NM_023036.6(DNAI2):c.192A>T (p.Ser64=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign

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