ClinVar for Gene (Select 55112) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3367874	NM_018051.5(DYNC2I1):c.856G>A (p.Glu286Lys)	DYNC2I1 (E240K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3365152	NM_018051.5(DYNC2I1):c.2899C>T (p.Pro967Ser)	DYNC2I1 (P480S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3351013	NM_018051.5(DYNC2I1):c.891C>G (p.His297Gln)	DYNC2I1 (H251Q +1 more)	Single nucleotide variant (missense variant +2 more)	DYNC2I1-related disorder	GUncertain significance
Select item 3274201	NM_018051.5(DYNC2I1):c.2668A>G (p.Arg890Gly)	DYNC2I1 (R474G +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3274200	NM_018051.5(DYNC2I1):c.2062G>A (p.Gly688Arg)	DYNC2I1 (G201R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3274199	NM_018051.5(DYNC2I1):c.1484G>C (p.Arg495Pro)	DYNC2I1 (R304P +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3274198	NM_018051.5(DYNC2I1):c.1526A>T (p.Asp509Val)	DYNC2I1 (D463V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3274197	NM_018051.5(DYNC2I1):c.1493A>G (p.Asp498Gly)	DYNC2I1 (D11G +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3274195	NM_018051.5(DYNC2I1):c.223A>C (p.Thr75Pro)	DYNC2I1 (T75P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3245817	NC_000007.13:g.(?_158677235)_(158679786_?)del	DYNC2I1	Deletion	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 3245816	NC_000007.13:g.(?_158649427)_(158738470_?)del	DYNC2I1	Deletion	Short-rib thoracic dysplasia 8 with or without polydactyly	GPathogenic
Select item 3148948	GRCh37/hg19 7q34-36.3(chr7:141690279-159119707)x3	ABCB8, ABCF2 +125 more	Copy number gain	See cases	GPathogenic
Select item 3086533	NM_018051.5(DYNC2I1):c.858G>T (p.Glu286Asp)	DYNC2I1 (S114I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3086532	NM_018051.5(DYNC2I1):c.79T>A (p.Ser27Thr)	DYNC2I1 (S27T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3086531	NM_018051.5(DYNC2I1):c.704A>G (p.Glu235Gly)	DYNC2I1 (E189G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3086530	NM_018051.5(DYNC2I1):c.680A>G (p.His227Arg)	DYNC2I1 (H227R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3086529	NM_018051.5(DYNC2I1):c.583G>A (p.Gly195Arg)	DYNC2I1 (G149R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3086528	NM_018051.5(DYNC2I1):c.577C>G (p.Gln193Glu)	DYNC2I1 (C20W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3086527	NM_018051.5(DYNC2I1):c.535G>C (p.Gly179Arg)	DYNC2I1 (E6D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3086526	NM_018051.5(DYNC2I1):c.469G>T (p.Ala157Ser)	DYNC2I1 (A157S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3086525	NM_018051.5(DYNC2I1):c.452G>T (p.Arg151Leu)	DYNC2I1 (R105L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3086524	NM_018051.5(DYNC2I1):c.452G>A (p.Arg151Gln)	DYNC2I1 (R105Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3086523	NM_018051.5(DYNC2I1):c.442A>G (p.Thr148Ala)	DYNC2I1 (T102A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3086522	NM_018051.5(DYNC2I1):c.3135C>A (p.Asp1045Glu)	DYNC2I1 (D1045E +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086521	NM_018051.5(DYNC2I1):c.3067C>G (p.Leu1023Val)	DYNC2I1 (L536V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086520	NM_018051.5(DYNC2I1):c.2981A>G (p.Lys994Arg)	DYNC2I1 (K578R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086519	NM_018051.5(DYNC2I1):c.2959A>G (p.Ser987Gly)	DYNC2I1 (S571G +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086518	NM_018051.5(DYNC2I1):c.2845G>A (p.Asp949Asn)	DYNC2I1 (D758N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3086517	NM_018051.5(DYNC2I1):c.2780C>T (p.Ala927Val)	DYNC2I1 (A736V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086516	NM_018051.5(DYNC2I1):c.269G>C (p.Arg90Thr)	DYNC2I1 (R90T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3086515	NM_018051.5(DYNC2I1):c.2345T>C (p.Val782Ala)	DYNC2I1 (V366A +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086514	NM_018051.5(DYNC2I1):c.2231C>T (p.Thr744Met)	DYNC2I1 (T744M +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086513	NM_018051.5(DYNC2I1):c.2216G>A (p.Ser739Asn)	DYNC2I1 (S739N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086512	NM_018051.5(DYNC2I1):c.1789C>G (p.Gln597Glu)	DYNC2I1 (Q406E +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086511	NM_018051.5(DYNC2I1):c.164C>T (p.Pro55Leu)	DYNC2I1 (P9L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3086510	NM_018051.5(DYNC2I1):c.1376C>T (p.Ser459Phe)	DYNC2I1 (S459F +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3086509	NM_018051.5(DYNC2I1):c.1358A>G (p.Asp453Gly)	DYNC2I1 (D262G +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3086508	NM_018051.5(DYNC2I1):c.1232C>T (p.Ala411Val)	DYNC2I1 (A220V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3086506	NM_018051.5(DYNC2I1):c.1039C>A (p.Pro347Thr)	DYNC2I1 (P301T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3086505	NM_018051.5(DYNC2I1):c.1009T>G (p.Ser337Ala)	DYNC2I1 (S146A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	GPathogenic
Select item 3062957	GRCh37/hg19 7q36.3(chr7:155607058-159119707)x1	DNAJB6, DYNC2I1 +9 more	Copy number loss	not specified	GPathogenic
Select item 3054181	NM_018051.5(DYNC2I1):c.935+9T>C	DYNC2I1	Single nucleotide variant (intron variant)	DYNC2I1-related disorder	GLikely benign
Select item 3045034	NM_018051.5(DYNC2I1):c.1358-789G>A	DYNC2I1 (G9D)	Single nucleotide variant (missense variant +1 more)	DYNC2I1-related disorder	GBenign
Select item 3040873	NM_018051.5(DYNC2I1):c.2779-4A>T	DYNC2I1	Single nucleotide variant (intron variant)	DYNC2I1-related disorder	GLikely benign
Select item 3017750	NM_018051.5(DYNC2I1):c.2247G>C (p.Thr749=)	DYNC2I1	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 3017123	NM_018051.5(DYNC2I1):c.2637C>T (p.Gly879=)	DYNC2I1	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 3012273	NM_018051.5(DYNC2I1):c.925A>T (p.Thr309Ser)	DYNC2I1 (T263S +1 more)	Single nucleotide variant (missense variant +2 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 3010229	NM_018051.5(DYNC2I1):c.1792-19A>T	DYNC2I1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 3008027	NM_018051.5(DYNC2I1):c.2372-21_2372-18del	DYNC2I1	Deletion (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 3006738	NM_018051.5(DYNC2I1):c.15+8C>T	DYNC2I1, LOC129999765	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 3002413	NM_018051.5(DYNC2I1):c.2486-4T>G	DYNC2I1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 3001273	NM_018051.5(DYNC2I1):c.936-16T>G	DYNC2I1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2992211	NM_018051.5(DYNC2I1):c.2856G>A (p.Thr952=)	DYNC2I1	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2978617	NM_018051.5(DYNC2I1):c.300G>A (p.Glu100=)	DYNC2I1	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2961114	NM_018051.5(DYNC2I1):c.3006G>A (p.Leu1002=)	DYNC2I1	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2920111	NM_018051.5(DYNC2I1):c.180C>T (p.Pro60=)	DYNC2I1	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2917017	NM_018051.5(DYNC2I1):c.70-20C>A	DYNC2I1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2916425	NM_018051.5(DYNC2I1):c.2095-7C>T	DYNC2I1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2915083	NM_018051.5(DYNC2I1):c.705A>G (p.Glu235=)	DYNC2I1 (K63R)	Single nucleotide variant (synonymous variant +2 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2910330	NM_018051.5(DYNC2I1):c.457C>T (p.Leu153Phe)	DYNC2I1 (L107F +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2905318	NM_018051.5(DYNC2I1):c.606C>G (p.Leu202=)	DYNC2I1 (S30*)	Single nucleotide variant (synonymous variant +2 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2892352	NM_018051.5(DYNC2I1):c.2232G>A (p.Thr744=)	DYNC2I1	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2889251	NM_018051.5(DYNC2I1):c.411C>G (p.Thr137=)	DYNC2I1	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2883546	NM_018051.5(DYNC2I1):c.2434-11del	DYNC2I1	Deletion (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2883221	NM_018051.5(DYNC2I1):c.2961C>T (p.Ser987=)	DYNC2I1	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2877186	NM_018051.5(DYNC2I1):c.2790G>A (p.Ser930=)	DYNC2I1	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2873771	NM_018051.5(DYNC2I1):c.1680A>G (p.Gly560=)	DYNC2I1	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2873339	NM_018051.5(DYNC2I1):c.778C>T (p.Arg260Ter)	DYNC2I1 (R214* +1 more)	Single nucleotide variant (nonsense +2 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GPathogenic
Select item 2851091	NM_018051.5(DYNC2I1):c.600C>T (p.Asn200=)	DYNC2I1 (T28I)	Single nucleotide variant (synonymous variant +2 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2845880	NM_018051.5(DYNC2I1):c.1203A>C (p.Ser401=)	DYNC2I1	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2844084	NM_018051.5(DYNC2I1):c.2310T>A (p.Pro770=)	DYNC2I1	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2833977	NM_018051.5(DYNC2I1):c.2646+9T>C	DYNC2I1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2829686	NM_018051.5(DYNC2I1):c.2647-8C>T	DYNC2I1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2818020	NM_018051.5(DYNC2I1):c.1776G>A (p.Leu592=)	DYNC2I1	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2808840	NM_018051.5(DYNC2I1):c.1059+18T>C	DYNC2I1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2796373	NM_018051.5(DYNC2I1):c.2061A>G (p.Ser687=)	DYNC2I1	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2792540	NM_018051.5(DYNC2I1):c.1584C>G (p.Thr528=)	DYNC2I1	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2788260	NM_018051.5(DYNC2I1):c.1911A>G (p.Pro637=)	DYNC2I1	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2768869	NM_018051.5(DYNC2I1):c.879+20G>A	DYNC2I1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2767992	NM_018051.5(DYNC2I1):c.1633C>G (p.Gln545Glu)	DYNC2I1 (Q499E +4 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 2766099	NM_018051.5(DYNC2I1):c.2334G>A (p.Lys778=)	DYNC2I1	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2759753	NM_018051.5(DYNC2I1):c.2874C>T (p.Thr958=)	DYNC2I1	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2739888	NM_018051.5(DYNC2I1):c.879+17T>C	DYNC2I1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2737861	NM_018051.5(DYNC2I1):c.1059+17T>G	DYNC2I1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2737360	NM_018051.5(DYNC2I1):c.1060-18T>C	DYNC2I1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2735667	NM_018051.5(DYNC2I1):c.15+12G>C	DYNC2I1, LOC129999765	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2733321	NM_018051.5(DYNC2I1):c.2256C>T (p.Thr752=)	DYNC2I1	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 2731995	NM_018051.5(DYNC2I1):c.1638G>A (p.Thr546=)	DYNC2I1	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2730063	NM_018051.5(DYNC2I1):c.225C>T (p.Thr75=)	DYNC2I1	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2729287	NM_018051.5(DYNC2I1):c.2868G>A (p.Ala956=)	DYNC2I1	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GBenign
Select item 2724732	NM_018051.5(DYNC2I1):c.573+14G>A	DYNC2I1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2724678	NM_018051.5(DYNC2I1):c.491-17T>C	DYNC2I1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2722535	NM_018051.5(DYNC2I1):c.3147G>A (p.Arg1049=)	DYNC2I1	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2721663	NM_018051.5(DYNC2I1):c.2241C>T (p.Thr747=)	DYNC2I1	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2720610	NM_018051.5(DYNC2I1):c.629_630delinsGC (p.Glu210Gly)	DYNC2I1 (E164G +2 more)	Indel (missense variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 2716377	NM_018051.5(DYNC2I1):c.491-10C>T	DYNC2I1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2714696	NM_018051.5(DYNC2I1):c.2583A>G (p.Thr861=)	DYNC2I1	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2709200	NM_018051.5(DYNC2I1):c.1921+18A>C	DYNC2I1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2706914	NM_018051.5(DYNC2I1):c.2378dup (p.Gly794fs)	DYNC2I1 (G307fs +4 more)	Duplication (frameshift variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GPathogenic

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