ClinVar for MedGen (Select 898712) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3023699	NM_001375405.1(CEP120):c.2313A>G (p.Leu771=)	CEP120	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 3021144	NM_001375405.1(CEP120):c.2014-14dup	CEP120	Duplication (intron variant)	Short-rib thoracic dysplasia 13 with or without polydactyly	GBenign
Select item 3015443	NM_001375405.1(CEP120):c.1804C>T (p.Leu602=)	CEP120	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 3013485	NM_001375405.1(CEP120):c.2743C>T (p.Gln915Ter)	CEP120 (Q870* +3 more)	Single nucleotide variant (nonsense +2 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GPathogenic
Select item 3003713	NM_001375405.1(CEP120):c.1763+15A>C	CEP120	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 3001670	NM_001375405.1(CEP120):c.1431-11_1431-10dup	CEP120	Duplication (intron variant)	Short-rib thoracic dysplasia 13 with or without polydactyly	GBenign
Select item 2998325	NM_001375405.1(CEP120):c.1431-21_1431-10del	CEP120	Deletion (intron variant)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2984627	NM_001375405.1(CEP120):c.50-10G>C	CEP120	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2961544	NM_001375405.1(CEP120):c.1430+7T>C	CEP120	Single nucleotide variant (non-coding transcript variant +1 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2960162	NM_001375405.1(CEP120):c.2013+1G>A	CEP120	Single nucleotide variant (splice donor variant)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely pathogenic
Select item 2954654	NM_001375405.1(CEP120):c.2196+11C>T	CEP120	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2918028	NM_001375405.1(CEP120):c.191C>T (p.Ala64Val)	CEP120 (A38V +1 more)	Single nucleotide variant (missense variant +2 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GUncertain significance
Select item 2905982	NM_001375405.1(CEP120):c.811-14C>G	CEP120	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2905756	NM_001375405.1(CEP120):c.1722T>C (p.Arg574=)	CEP120	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2904858	NM_001375405.1(CEP120):c.321+1G>A	CEP120	Single nucleotide variant (splice donor variant)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely pathogenic
Select item 2894492	NM_001375405.1(CEP120):c.1909_1910delinsGT (p.Cys637Val)	CEP120 (C637V +3 more)	Indel (missense variant +1 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GUncertain significance
Select item 2892040	NM_001375405.1(CEP120):c.2726+13A>G	CEP120	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2888448	NM_001375405.1(CEP120):c.2358+10C>T	CEP120	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2886459	NM_001375405.1(CEP120):c.1923C>T (p.Ile641=)	CEP120	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2879928	NM_001375405.1(CEP120):c.162T>C (p.Thr54=)	CEP120	Single nucleotide variant (synonymous variant +2 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2878418	NM_001375405.1(CEP120):c.1862G>T (p.Gly621Val)	CEP120 (G430V +3 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GUncertain significance
Select item 2871782	NM_001375405.1(CEP120):c.1431-9_1431-8insT	CEP120	Insertion (intron variant)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2870301	NM_001375405.1(CEP120):c.1255+1G>A	CEP120	Single nucleotide variant (splice donor variant)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely pathogenic
Select item 2867071	NM_001375405.1(CEP120):c.2726+16G>T	CEP120	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2859555	NM_001375405.1(CEP120):c.207-14_207-13del	CEP120	Deletion (intron variant)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2858930	NM_001375405.1(CEP120):c.2377A>T (p.Lys793Ter)	CEP120 (K602* +3 more)	Single nucleotide variant (nonsense +1 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GPathogenic
Select item 2847852	NM_001375405.1(CEP120):c.2580+2T>A	CEP120	Single nucleotide variant (splice donor variant)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely pathogenic
Select item 2840604	NM_001375405.1(CEP120):c.2104-15T>G	CEP120	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2840603	NM_001375405.1(CEP120):c.2104-15_2104-14insG	CEP120	Insertion (intron variant)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2833851	NM_001375405.1(CEP120):c.528C>T (p.Gly176=)	CEP120	Single nucleotide variant (synonymous variant +2 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2811021	NM_001375405.1(CEP120):c.772A>G (p.Ile258Val)	CEP120 (I232V +2 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GUncertain significance
Select item 2810575	NM_001375405.1(CEP120):c.1039-3del	CEP120	Deletion (non-coding transcript variant +1 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GBenign
Select item 2804970	NM_001375405.1(CEP120):c.1161A>G (p.Pro387=)	CEP120	Single nucleotide variant (synonymous variant +2 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2802180	NM_001375405.1(CEP120):c.1413A>C (p.Pro471=)	CEP120	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2794987	NM_001375405.1(CEP120):c.2524C>T (p.Leu842=)	CEP120	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2794204	NM_001375405.1(CEP120):c.1344A>G (p.Pro448=)	CEP120	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2790017	NM_001375405.1(CEP120):c.2103+13G>A	CEP120	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2782928	NM_001375405.1(CEP120):c.1527C>T (p.Tyr509=)	CEP120	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2775715	NM_001375405.1(CEP120):c.1038+13C>T	CEP120	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2770844	NM_001375405.1(CEP120):c.464-9T>C	CEP120	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2763982	NM_001375405.1(CEP120):c.2103+20T>G	CEP120	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2757515	NM_001375405.1(CEP120):c.1959A>G (p.Ala653=)	CEP120	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2747309	NM_001375405.1(CEP120):c.2406A>G (p.Gln802=)	CEP120	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2743957	NM_001375405.1(CEP120):c.613-7T>C	CEP120	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2741093	NM_001375405.1(CEP120):c.1449T>C (p.Phe483=)	CEP120	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2739835	NM_001375405.1(CEP120):c.672T>C (p.Ser224=)	CEP120	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2726089	NM_001375405.1(CEP120):c.2197-8G>T	CEP120	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2723843	NM_001375405.1(CEP120):c.464-18G>A	CEP120	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2723496	NM_001375405.1(CEP120):c.2648G>A (p.Arg883His)	CEP120 (R857H +3 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GUncertain significance
Select item 2723495	NM_001375405.1(CEP120):c.1887G>A (p.Pro629=)	CEP120	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2722211	NM_001375405.1(CEP120):c.213G>A (p.Gln71=)	CEP120	Single nucleotide variant (synonymous variant +2 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2716821	NM_001375405.1(CEP120):c.2088A>C (p.Ser696=)	CEP120	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2716372	NM_001375405.1(CEP120):c.621A>T (p.Pro207=)	CEP120	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2716118	NM_001375405.1(CEP120):c.2839C>T (p.Arg947Cys)	CEP120 (R756C +3 more)	Single nucleotide variant (missense variant +2 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GUncertain significance
Select item 2712980	NM_001375405.1(CEP120):c.2961A>G (p.Ter987=)	CEP120	Single nucleotide variant (synonymous variant +2 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2712388	NM_001375405.1(CEP120):c.2931G>A (p.Glu977=)	CEP120	Single nucleotide variant (synonymous variant +2 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2708563	NM_001375405.1(CEP120):c.1018A>C (p.Arg340=)	CEP120	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2706621	NM_001375405.1(CEP120):c.1580+11_1580+12dup	CEP120	Duplication (intron variant)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2703283	NM_001375405.1(CEP120):c.207-12G>C	CEP120	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2696540	NM_001375405.1(CEP120):c.1305T>C (p.Asn435=)	CEP120	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2695314	NM_001375405.1(CEP120):c.1122A>C (p.Thr374=)	CEP120	Single nucleotide variant (synonymous variant +2 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2694933	NM_001375405.1(CEP120):c.1323A>T (p.Ser441=)	CEP120	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2420521	NM_001375405.1(CEP120):c.1928C>G (p.Thr643Arg)	CEP120 (T452R +3 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GUncertain significance
Select item 2415191	NM_001375405.1(CEP120):c.797A>G (p.Gln266Arg)	CEP120 (Q240R +2 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GUncertain significance
Select item 2201435	NM_001375405.1(CEP120):c.2197-10T>G	CEP120	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2200255	NM_001375405.1(CEP120):c.2344C>T (p.Arg782Cys)	CEP120 (R591C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2198618	NM_001375405.1(CEP120):c.1742T>C (p.Val581Ala)	CEP120 (V536A +3 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GUncertain significance
Select item 2197786	NM_001375405.1(CEP120):c.1767A>C (p.Ser589=)	CEP120	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2194904	NM_001375405.1(CEP120):c.2266C>T (p.Arg756Cys)	CEP120 (R711C +3 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GUncertain significance
Select item 2194477	NM_001375405.1(CEP120):c.1038+18T>A	CEP120	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2192662	NM_001375405.1(CEP120):c.1943C>T (p.Thr648Met)	CEP120 (T648M +3 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GUncertain significance
Select item 2191845	NM_001375405.1(CEP120):c.882C>T (p.Gly294=)	CEP120	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2187882	NM_001375405.1(CEP120):c.2726+20T>C	CEP120	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2171294	NM_001375405.1(CEP120):c.1741G>A (p.Val581Met)	CEP120 (V390M +3 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GUncertain significance
Select item 2171245	NM_001375405.1(CEP120):c.2481+6C>T	CEP120	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 2168267	NM_001375405.1(CEP120):c.2726+19T>C	CEP120	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2163076	NM_001375405.1(CEP120):c.896A>G (p.Asn299Ser)	CEP120 (N299S +2 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 13 with or without polydactyly +1 more	GUncertain significance
Select item 2158743	NM_001375405.1(CEP120):c.1101A>C (p.Leu367Phe)	CEP120 (L367F +2 more)	Single nucleotide variant (missense variant +2 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GUncertain significance
Select item 2158480	NM_001375405.1(CEP120):c.171T>C (p.Ala57=)	CEP120	Single nucleotide variant (synonymous variant +2 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2154476	NM_001375405.1(CEP120):c.1151C>A (p.Ser384Tyr)	CEP120 (S193Y +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2153663	NM_001375405.1(CEP120):c.286G>A (p.Val96Ile)	CEP120 (V70I +1 more)	Single nucleotide variant (missense variant +2 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GUncertain significance
Select item 2153194	NM_001375405.1(CEP120):c.2824G>A (p.Asp942Asn)	CEP120 (D751N +3 more)	Single nucleotide variant (missense variant +2 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GUncertain significance
Select item 2148635	NM_001375405.1(CEP120):c.1720C>T (p.Arg574Cys)	CEP120 (R529C +3 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GUncertain significance
Select item 2145792	NM_001375405.1(CEP120):c.2581-16C>A	CEP120	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2143351	NM_001375405.1(CEP120):c.1125T>C (p.Leu375=)	CEP120	Single nucleotide variant (synonymous variant +2 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2142446	NM_001375405.1(CEP120):c.2014-2A>G	CEP120	Single nucleotide variant (splice acceptor variant)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely pathogenic
Select item 2139258	NM_001375405.1(CEP120):c.1588T>C (p.Leu530=)	CEP120	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2138055	NM_001375405.1(CEP120):c.325C>T (p.Pro109Ser)	CEP120 (P109S +1 more)	Single nucleotide variant (missense variant +2 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GUncertain significance
Select item 2124369	NM_001375405.1(CEP120):c.368A>T (p.Lys123Met)	CEP120 (K123M +1 more)	Single nucleotide variant (missense variant +2 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GUncertain significance
Select item 2114580	NM_001375405.1(CEP120):c.207-19A>C	CEP120	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2112658	NM_001375405.1(CEP120):c.559A>C (p.Thr187Pro)	CEP120 (T187P +1 more)	Single nucleotide variant (missense variant +2 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GUncertain significance
Select item 2104386	NM_001375405.1(CEP120):c.842G>A (p.Gly281Glu)	CEP120 (G255E +2 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GUncertain significance
Select item 2103953	NM_001375405.1(CEP120):c.2458A>G (p.Ile820Val)	CEP120 (I820V +3 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GUncertain significance
Select item 2103859	NM_001375405.1(CEP120):c.1860+13G>A	CEP120	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2102957	NM_001375405.1(CEP120):c.192G>T (p.Ala64=)	CEP120	Single nucleotide variant (synonymous variant +2 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2101065	NM_001375405.1(CEP120):c.76C>T (p.His26Tyr)	CEP120 (H26Y)	Single nucleotide variant (5 prime UTR variant +2 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GUncertain significance
Select item 2100295	NM_001375405.1(CEP120):c.2104-9A>G	CEP120	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2079715	NM_001375405.1(CEP120):c.234A>G (p.Gln78=)	CEP120	Single nucleotide variant (synonymous variant +2 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign
Select item 2078701	NM_001375405.1(CEP120):c.94G>A (p.Ala32Thr)	CEP120 (A32T +1 more)	Single nucleotide variant (missense variant +2 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GUncertain significance
Select item 2078233	NM_001375405.1(CEP120):c.50-17A>G	CEP120	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 13 with or without polydactyly	GLikely benign

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