Related gene-specific medical variations for Gene (Select 8701) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068207	NM_001277115.2(DNAH11):c.6130C>G (p.Arg2044Gly)	DNAH11 (R2044G +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 7	GUncertain significance
Select item 3067899	NM_001277115.2(DNAH11):c.9554del (p.Pro3185fs)	DNAH11 (P3185fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 7	GLikely pathogenic
Select item 3065774	NM_001277115.2(DNAH11):c.136_157dup (p.Phe53fs)	DNAH11 (F53fs)	Duplication (frameshift variant)	Primary ciliary dyskinesia 7	GLikely pathogenic
Select item 3065596	NM_001277115.2(DNAH11):c.11986A>T (p.Lys3996Ter)	DNAH11 (K3996* +1 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 7	GLikely pathogenic
Select item 3062245	NM_001277115.2(DNAH11):c.11615G>A (p.Trp3872Ter)	DNAH11 (W3872* +1 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 7	GLikely pathogenic
Select item 3062132	NM_001277115.2(DNAH11):c.10773C>G (p.His3591Gln)	DNAH11 (H3591Q +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 7	GUncertain significance
Select item 3023621	NM_001277115.2(DNAH11):c.13362A>T (p.Ala4454=)	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GLikely benign
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 3016293	NM_001277115.2(DNAH11):c.13053C>T (p.Phe4351=)	DNAH11, LOC126859962	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 3010788	NM_001277115.2(DNAH11):c.13506T>G (p.Thr4502=)	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	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 3002158	NM_001277115.2(DNAH11):c.13050-13T>G	DNAH11, LOC126859962	Single nucleotide variant (intron 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 2992716	NM_001277115.2(DNAH11):c.13050-18C>A	DNAH11, LOC126859962	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2992675	NM_001277115.2(DNAH11):c.13320C>T (p.Thr4440=)	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	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 2969697	NM_018719.5(CDCA7L):c.*1327dup	CDCA7L, DNAH11	Duplication (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GBenign
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 2956281	NM_001277115.2(DNAH11):c.13545A>G (p.Glu4515=)	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2955220	NM_018719.5(CDCA7L):c.1333_1334del	CDCA7L, DNAH11	Deletion (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2920353	NM_001277115.2(DNAH11):c.13449C>A (p.Thr4483=)	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	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 2919234	NM_001277115.2(DNAH11):c.13380_13383dup (p.Ala4462fs)	CDCA7L, DNAH11 (A4462fs)	Duplication (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GPathogenic
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 2917274	NM_018719.5(CDCA7L):c.*1328CA[1]	CDCA7L, DNAH11	Microsatellite (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2916000	NM_001277115.2(DNAH11):c.13050-4C>T	DNAH11, LOC126859962	Single nucleotide variant (intron 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 2910777	NM_001277115.2(DNAH11):c.13457G>A (p.Arg4486Lys)	CDCA7L, DNAH11 (R4493K +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
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 2903702	NM_001277115.2(DNAH11):c.13329A>T (p.Gly4443=)	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	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 2896590	NM_001277115.2(DNAH11):c.13524T>C (p.Ala4508=)	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2896572	NM_018719.5(CDCA7L):c.*1330C>T	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2893769	NM_001277115.2(DNAH11):c.13480_13489dup (p.Lys4497fs)	CDCA7L, DNAH11 (K4497fs)	Duplication (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2890852	NM_001277115.2(DNAH11):c.13308C>A (p.Ala4436=)	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2890820	NM_001277115.2(DNAH11):c.13313G>A (p.Trp4438Ter)	CDCA7L, DNAH11 (W4438* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GPathogenic
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 2888264	NM_018719.5(CDCA7L):c.*1320G>A	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	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 2880956	NM_001277115.2(DNAH11):c.13322_13335dup (p.Val4446fs)	CDCA7L, DNAH11 (V4446fs)	Duplication (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GPathogenic
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 2858135	NM_001277115.2(DNAH11):c.13539T>G (p.Leu4513=)	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	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 2853678	NM_001277115.2(DNAH11):c.13398C>A (p.Pro4466=)	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	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 2848096	NM_001277115.2(DNAH11):c.13446A>G (p.Arg4482=)	DNAH11, CDCA7L	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2846584	NM_001277115.2(DNAH11):c.13050-9A>T	DNAH11, LOC126859962	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 2840690	NM_001277115.2(DNAH11):c.13416del (p.Lys4473fs)	CDCA7L, DNAH11 (K4473fs)	Deletion (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GPathogenic
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 2838485	NM_001277115.2(DNAH11):c.13416_13428del (p.Lys4473fs)	DNAH11, CDCA7L (K4473fs)	Deletion (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2833363	NM_001277115.2(DNAH11):c.13410A>G (p.Gln4470=)	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	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 2820600	NM_001277115.2(DNAH11):c.13461C>A (p.Gly4487=)	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2816939	NM_001277115.2(DNAH11):c.13395C>G (p.Thr4465=)	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2810834	NM_001277115.2(DNAH11):c.13521G>A (p.Leu4507=)	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	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 2806095	NM_001277115.2(DNAH11):c.13396_13426dup (p.Tyr4476fs)	CDCA7L, DNAH11 (Y4476fs)	Duplication (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GPathogenic
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 2802655	NM_001277115.2(DNAH11):c.13383T>C (p.Phe4461=)	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GLikely benign
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 2790076	NM_001277115.2(DNAH11):c.13542A>G (p.Leu4514=)	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia +1 more	GLikely benign
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 2784625	NM_001277115.2(DNAH11):c.13411_13423del (p.Glu4471fs)	DNAH11, CDCA7L (E4471fs)	Deletion (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GPathogenic
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

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