ClinVar for MedGen (Select 816021) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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
Select item 2705608	NM_018051.5(DYNC2I1):c.868A>G (p.Arg290Gly)	DYNC2I1 (R290G +1 more)	Single nucleotide variant (missense variant +2 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 2705161	NM_018051.5(DYNC2I1):c.2778+17_2778+18del	DYNC2I1	Deletion (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2703775	NM_018051.5(DYNC2I1):c.1848T>C (p.Leu616=)	DYNC2I1	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2698990	NM_018051.5(DYNC2I1):c.990+15A>G	DYNC2I1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2690779	NM_018051.5(DYNC2I1):c.898C>T (p.Arg300Ter)	DYNC2I1 (R254* +1 more)	Single nucleotide variant (nonsense +2 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely pathogenic
Select item 2505529	NM_018051.5(DYNC2I1):c.3136G>A (p.Glu1046Lys)	DYNC2I1 (E1000K +4 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 2426423	NC_000007.13:g.(?_158734596)_(158738470_?)dup	DYNC2I1	Duplication	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 2426422	NC_000007.13:g.(?_158662526)_(158738470_?)dup	DYNC2I1	Duplication	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 2426421	NC_000007.13:g.(?_158711411)_(158738470_?)dup	DYNC2I1	Duplication	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 2426420	NC_000007.13:g.(?_158672355)_(158672700_?)del	DYNC2I1	Deletion	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 2417735	NM_018051.5(DYNC2I1):c.574-11G>A	DYNC2I1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2414678	NM_018051.5(DYNC2I1):c.2461A>G (p.Ile821Val)	DYNC2I1 (I334V +4 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 2201696	NM_018051.5(DYNC2I1):c.3177G>A (p.Trp1059Ter)	DYNC2I1 (W868* +4 more)	Single nucleotide variant (nonsense)	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 2197523	NM_018051.5(DYNC2I1):c.1902C>T (p.Thr634=)	DYNC2I1	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2197204	NM_018051.5(DYNC2I1):c.785AAG[1] (p.Glu263del)	DYNC2I1 (K91del +2 more)	Microsatellite (inframe_deletion +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 2193547	NM_018051.5(DYNC2I1):c.2485+16A>G	DYNC2I1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2190086	NM_018051.5(DYNC2I1):c.2279A>C (p.Asn760Thr)	DYNC2I1 (N344T +4 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 2188036	NM_018051.5(DYNC2I1):c.485G>T (p.Arg162Leu)	DYNC2I1 (R162L +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly +1 more	GUncertain significance
Select item 2187692	NM_018051.5(DYNC2I1):c.884G>T (p.Gly295Val)	DYNC2I1 (G249V +1 more)	Single nucleotide variant (missense variant +2 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 2186983	NM_018051.5(DYNC2I1):c.562C>T (p.Arg188Ter)	DYNC2I1 (R142* +1 more)	Single nucleotide variant (nonsense +2 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GPathogenic
Select item 2182615	NM_018051.5(DYNC2I1):c.3019G>A (p.Ala1007Thr)	DYNC2I1 (A961T +4 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 2180109	NM_018051.5(DYNC2I1):c.2139T>C (p.Phe713=)	DYNC2I1	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2178551	NM_018051.5(DYNC2I1):c.3078G>A (p.Ala1026=)	DYNC2I1	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2178229	NM_018051.5(DYNC2I1):c.879+10C>G	DYNC2I1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2172673	NM_018051.5(DYNC2I1):c.2457A>G (p.Ala819=)	DYNC2I1	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2169381	NM_018051.5(DYNC2I1):c.1003G>A (p.Glu335Lys)	DYNC2I1 (E144K +2 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 2167006	NM_018051.5(DYNC2I1):c.2347C>T (p.Leu783Phe)	DYNC2I1 (L783F +4 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 2165686	NM_018051.5(DYNC2I1):c.1483C>T (p.Arg495Trp)	DYNC2I1 (R495W +4 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 2162611	NM_018051.5(DYNC2I1):c.879+19C>T	DYNC2I1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2162517	NM_018051.5(DYNC2I1):c.712_715del (p.Glu238fs)	DYNC2I1 (E192fs +2 more)	Microsatellite (frameshift variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GPathogenic
Select item 2161801	NM_018051.5(DYNC2I1):c.470C>T (p.Ala157Val)	DYNC2I1 (A157V +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 2161696	NM_018051.5(DYNC2I1):c.900A>G (p.Arg300=)	DYNC2I1	Single nucleotide variant (synonymous variant +2 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2160973	NM_018051.5(DYNC2I1):c.2091C>T (p.Ser697=)	DYNC2I1	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2155034	NM_018051.5(DYNC2I1):c.1962G>A (p.Arg654=)	DYNC2I1	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2153195	NM_018051.5(DYNC2I1):c.1591-9G>T	DYNC2I1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2149191	NM_018051.5(DYNC2I1):c.2695C>T (p.Leu899=)	DYNC2I1	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2147389	NM_018051.5(DYNC2I1):c.1702+14C>G	DYNC2I1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GBenign
Select item 2144165	NM_018051.5(DYNC2I1):c.303A>G (p.Lys101=)	DYNC2I1	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2143237	NM_018051.5(DYNC2I1):c.1718A>G (p.Asp573Gly)	DYNC2I1 (D157G +4 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 2140990	NM_018051.5(DYNC2I1):c.845C>T (p.Ser282Leu)	DYNC2I1 (S282L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2138234	NM_018051.5(DYNC2I1):c.3088A>G (p.Ile1030Val)	DYNC2I1 (I543V +4 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2131238	NM_018051.5(DYNC2I1):c.296G>C (p.Arg99Pro)	DYNC2I1 (R53P +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 2116187	NM_018051.5(DYNC2I1):c.2434-19T>C	DYNC2I1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign

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