ClinVar for Gene (Select 126859961) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3017527	NM_001277115.2(DNAH11):c.3369A>G (p.Ile1123Met)	DNAH11, LOC126859961 (I1123M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GBenign
Select item 3017431	NM_001277115.2(DNAH11):c.3378A>G (p.Lys1126=)	DNAH11, LOC126859961	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3015276	NM_001277115.2(DNAH11):c.2968A>C (p.Ile990Leu)	DNAH11, LOC126859961 (I990L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3013017	NM_001277115.2(DNAH11):c.3267T>C (p.Tyr1089=)	DNAH11, LOC126859961	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3003705	NM_001277115.2(DNAH11):c.3037A>G (p.Arg1013Gly)	DNAH11, LOC126859961 (R1013G)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3001279	NM_001277115.2(DNAH11):c.3157C>T (p.Leu1053Phe)	DNAH11, LOC126859961 (L1053F)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2990615	NM_001277115.2(DNAH11):c.3294A>G (p.Lys1098=)	DNAH11, LOC126859961	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GBenign
Select item 2988974	NM_001277115.2(DNAH11):c.3162G>T (p.Leu1054Phe)	DNAH11, LOC126859961 (L1054F)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2987128	NM_001277115.2(DNAH11):c.3023G>C (p.Gly1008Ala)	DNAH11, LOC126859961 (G1008A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2983617	NM_001277115.2(DNAH11):c.3049A>T (p.Met1017Leu)	DNAH11, LOC126859961 (M1017L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GBenign
Select item 2973432	NM_001277115.2(DNAH11):c.3256-19A>C	DNAH11, LOC126859961	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2961309	NM_001277115.2(DNAH11):c.3084A>G (p.Leu1028=)	DNAH11, LOC126859961	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2958388	NM_001277115.2(DNAH11):c.3134G>T (p.Arg1045Leu)	LOC126859961, DNAH11 (R1045L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2919354	NM_001277115.2(DNAH11):c.2936A>G (p.Asn979Ser)	DNAH11, LOC126859961 (N979S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GBenign
Select item 2917665	NM_001277115.2(DNAH11):c.3025C>T (p.Leu1009=)	LOC126859961, DNAH11	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2911967	NM_001277115.2(DNAH11):c.3046A>T (p.Ile1016Phe)	DNAH11, LOC126859961 (I1016F)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GBenign
Select item 2909222	NM_001277115.2(DNAH11):c.3282T>C (p.Val1094=)	DNAH11, LOC126859961	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2902315	NM_001277115.2(DNAH11):c.3342G>A (p.Lys1114=)	DNAH11, LOC126859961	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GBenign
Select item 2900311	NM_001277115.2(DNAH11):c.3307A>G (p.Arg1103Gly)	DNAH11, LOC126859961 (R1103G)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GBenign
Select item 2898213	NM_001277115.2(DNAH11):c.3417C>T (p.Val1139=)	DNAH11, LOC126859961	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2890719	NM_001277115.2(DNAH11):c.3264T>C (p.Ile1088=)	DNAH11, LOC126859961	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2887941	NM_001277115.2(DNAH11):c.3279T>C (p.Tyr1093=)	LOC126859961, DNAH11	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GBenign
Select item 2887226	NM_001277115.2(DNAH11):c.3001-12C>T	DNAH11, LOC126859961	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2886953	NM_001277115.2(DNAH11):c.3425+11A>G	DNAH11, LOC126859961	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2885576	NM_001277115.2(DNAH11):c.3047T>C (p.Ile1016Thr)	DNAH11, LOC126859961 (I1016T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2884774	NM_001277115.2(DNAH11):c.3007A>G (p.Met1003Val)	DNAH11, LOC126859961 (M1003V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2884061	NM_001277115.2(DNAH11):c.3231A>G (p.Pro1077=)	DNAH11, LOC126859961	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2879093	NM_001277115.2(DNAH11):c.3234T>A (p.Thr1078=)	DNAH11, LOC126859961	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GBenign
Select item 2874694	NM_001277115.2(DNAH11):c.3380G>A (p.Trp1127Ter)	DNAH11, LOC126859961 (W1127*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 2870194	NM_001277115.2(DNAH11):c.3318T>C (p.Asp1106=)	DNAH11, LOC126859961	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GBenign
Select item 2867225	NM_001277115.2(DNAH11):c.3255+13C>G	DNAH11, LOC126859961	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2866493	NM_001277115.2(DNAH11):c.3164A>G (p.Tyr1055Cys)	DNAH11, LOC126859961 (Y1055C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2865124	NM_001277115.2(DNAH11):c.3320G>A (p.Ser1107Asn)	DNAH11, LOC126859961 (S1107N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2861751	NM_001277115.2(DNAH11):c.3054C>T (p.Asn1018=)	DNAH11, LOC126859961	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2861706	NM_001277115.2(DNAH11):c.3114T>C (p.Thr1038=)	DNAH11, LOC126859961	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2857984	NM_001277115.2(DNAH11):c.3096C>T (p.Asn1032=)	DNAH11, LOC126859961	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2857862	NM_001277115.2(DNAH11):c.3260A>G (p.Asp1087Gly)	DNAH11, LOC126859961 (D1087G)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2850642	NM_001277115.2(DNAH11):c.3306T>C (p.Phe1102=)	DNAH11, LOC126859961	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GBenign
Select item 2849586	NM_001277115.2(DNAH11):c.2982G>A (p.Leu994=)	DNAH11, LOC126859961	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2848249	NM_001277115.2(DNAH11):c.3425+19T>G	DNAH11, LOC126859961	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2846511	NM_001277115.2(DNAH11):c.3255+16_3255+17insTGG	DNAH11, LOC126859961	Insertion (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2841912	NM_001277115.2(DNAH11):c.3008T>C (p.Met1003Thr)	DNAH11, LOC126859961 (M1003T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GBenign
Select item 2839409	NM_001277115.2(DNAH11):c.3128A>G (p.Asp1043Gly)	DNAH11, LOC126859961 (D1043G)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2831440	NM_001277115.2(DNAH11):c.3008T>A (p.Met1003Lys)	DNAH11, LOC126859961 (M1003K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GBenign
Select item 2828454	NM_001277115.2(DNAH11):c.3151C>T (p.His1051Tyr)	DNAH11, LOC126859961 (H1051Y)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2824735	NM_001277115.2(DNAH11):c.3256-12_3256-11del	DNAH11, LOC126859961	Deletion (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2824720	NM_001277115.2(DNAH11):c.2964C>T (p.Asn988=)	DNAH11, LOC126859961	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2821365	NM_001277115.2(DNAH11):c.3000+20_3000+24dup	DNAH11, LOC126859961	Duplication (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2806286	NM_001277115.2(DNAH11):c.3401A>G (p.His1134Arg)	DNAH11, LOC126859961 (H1134R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GBenign
Select item 2804487	NM_001277115.2(DNAH11):c.3255+1G>T	DNAH11, LOC126859961	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 2802135	NM_001277115.2(DNAH11):c.3187G>A (p.Glu1063Lys)	DNAH11, LOC126859961 (E1063K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2801067	NM_001277115.2(DNAH11):c.3097A>G (p.Thr1033Ala)	DNAH11, LOC126859961 (T1033A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2797444	NM_001277115.2(DNAH11):c.3182C>A (p.Ser1061Tyr)	DNAH11, LOC126859961 (S1061Y)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GBenign
Select item 2788939	NM_001277115.2(DNAH11):c.3000+19G>A	DNAH11, LOC126859961	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2785723	NM_001277115.2(DNAH11):c.3425+1G>A	DNAH11, LOC126859961	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 2784487	NM_001277115.2(DNAH11):c.3396G>A (p.Gln1132=)	DNAH11, LOC126859961	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2783075	NM_001277115.2(DNAH11):c.3000+16_3000+18del	DNAH11, LOC126859961	Deletion (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2783000	NM_001277115.2(DNAH11):c.3222A>G (p.Glu1074=)	DNAH11, LOC126859961	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GBenign
Select item 2764718	NM_001277115.2(DNAH11):c.3375G>A (p.Lys1125=)	DNAH11, LOC126859961	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GBenign
Select item 2764103	NM_001277115.2(DNAH11):c.3255+11C>T	DNAH11, LOC126859961	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2761863	NM_001277115.2(DNAH11):c.2998C>T (p.Gln1000Ter)	DNAH11, LOC126859961 (Q1000*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 2757583	NM_001277115.2(DNAH11):c.3150G>A (p.Lys1050=)	DNAH11, LOC126859961	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2755049	NM_001277115.2(DNAH11):c.3366C>G (p.Thr1122=)	DNAH11, LOC126859961	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2751200	NM_001277115.2(DNAH11):c.3000+1G>T	DNAH11, LOC126859961	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 2744859	NM_001277115.2(DNAH11):c.3425+12C>A	DNAH11, LOC126859961	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2739565	NM_001277115.2(DNAH11):c.3255+17G>C	DNAH11, LOC126859961	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2738382	NM_001277115.2(DNAH11):c.3152A>G (p.His1051Arg)	DNAH11, LOC126859961 (H1051R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GBenign
Select item 2735591	NM_001277115.2(DNAH11):c.2933G>A (p.Cys978Tyr)	DNAH11, LOC126859961 (C978Y)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GBenign
Select item 2731861	NM_001277115.2(DNAH11):c.2957A>G (p.Gln986Arg)	DNAH11, LOC126859961 (Q986R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GBenign
Select item 2728421	NM_001277115.2(DNAH11):c.3303C>G (p.Asp1101Glu)	DNAH11, LOC126859961 (D1101E)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GBenign
Select item 2728366	NM_001277115.2(DNAH11):c.3177G>A (p.Val1059=)	DNAH11, LOC126859961	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2727086	NM_001277115.2(DNAH11):c.3027G>A (p.Leu1009=)	LOC126859961, DNAH11	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2726919	NM_001277115.2(DNAH11):c.2926A>G (p.Met976Val)	DNAH11, LOC126859961 (M976V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2723798	NM_001277115.2(DNAH11):c.2997T>C (p.Tyr999=)	DNAH11, LOC126859961	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GBenign
Select item 2719796	NM_001277115.2(DNAH11):c.3192G>C (p.Met1064Ile)	DNAH11, LOC126859961 (M1064I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2716098	NM_001277115.2(DNAH11):c.3036C>A (p.Val1012=)	DNAH11, LOC126859961	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2708304	NM_001277115.2(DNAH11):c.3001-17G>A	DNAH11, LOC126859961	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2707068	NM_001277115.2(DNAH11):c.3279T>G (p.Tyr1093Ter)	DNAH11, LOC126859961 (Y1093*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 2701502	NM_001277115.2(DNAH11):c.3425+18T>C	DNAH11, LOC126859961	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2700012	NM_001277115.2(DNAH11):c.3307dup (p.Arg1103fs)	DNAH11, LOC126859961 (R1103fs)	Duplication (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 2632918	NM_001277115.2(DNAH11):c.3262A>G (p.Ile1088Val)	DNAH11, LOC126859961 (I1088V)	Single nucleotide variant (missense variant)	DNAH11-related condition	GUncertain significance
Select item 2500287	NM_001277115.2(DNAH11):c.3040C>T (p.Gln1014Ter)	DNAH11, LOC126859961 (Q1014*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 7	GPathogenic
Select item 2499481	NM_001277115.2(DNAH11):c.3425+2T>A	DNAH11, LOC126859961	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia 7	GLikely pathogenic
Select item 2431893	NM_001277115.2(DNAH11):c.3425+1_3425+4del	DNAH11, LOC126859961	Deletion (splice donor variant)	Primary ciliary dyskinesia 7	GLikely pathogenic
Select item 2325373	NM_001277115.2(DNAH11):c.2947A>C (p.Met983Leu)	DNAH11, LOC126859961 (M983L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257049	NM_001277115.2(DNAH11):c.3353T>C (p.Val1118Ala)	DNAH11, LOC126859961 (V1118A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 2255273	NM_001277115.2(DNAH11):c.3343C>A (p.Pro1115Thr)	DNAH11, LOC126859961 (P1115T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2181543	NM_001277115.2(DNAH11):c.3036C>T (p.Val1012=)	DNAH11, LOC126859961	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GBenign
Select item 2178864	NM_001277115.2(DNAH11):c.3200A>G (p.His1067Arg)	DNAH11, LOC126859961 (H1067R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GBenign
Select item 2146688	NM_001277115.2(DNAH11):c.2973A>G (p.Ala991=)	DNAH11, LOC126859961	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GBenign
Select item 2099858	NM_001277115.2(DNAH11):c.3196G>A (p.Ala1066Thr)	DNAH11, LOC126859961 (A1066T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2097495	NM_001277115.2(DNAH11):c.3126G>C (p.Val1042=)	DNAH11, LOC126859961	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2078162	NM_001277115.2(DNAH11):c.3083T>C (p.Leu1028Ser)	DNAH11, LOC126859961 (L1028S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GBenign
Select item 2033910	NM_001277115.2(DNAH11):c.3384del (p.Trp1129fs)	DNAH11, LOC126859961 (W1129fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 1987495	NM_001277115.2(DNAH11):c.3165T>C (p.Tyr1055=)	DNAH11, LOC126859961	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GBenign
Select item 1965297	NM_001277115.2(DNAH11):c.3170A>G (p.His1057Arg)	DNAH11, LOC126859961 (H1057R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GBenign
Select item 1896657	NM_001277115.2(DNAH11):c.3285A>G (p.Gln1095=)	DNAH11, LOC126859961	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1798958	NM_001277115.2(DNAH11):c.3025C>G (p.Leu1009Val)	LOC126859961, DNAH11 (L1009V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GConflicting classifications of pathogenicity
Select item 1798708	NM_001277115.2(DNAH11):c.3002A>G (p.Asn1001Ser)	LOC126859961, DNAH11 (N1001S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1798324	NM_001277115.2(DNAH11):c.2975C>T (p.Thr992Ile)	DNAH11, LOC126859961 (T992I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance

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