ClinVar for Gene (Select 153241) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 524

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3379600	NM_001375405.1(CEP120):c.1372A>G (p.Ile458Val)	CEP120 (I267V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3375609	NM_001375405.1(CEP120):c.266A>G (p.Lys89Arg)	CEP120 (K63R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3369561	NM_001375405.1(CEP120):c.778C>T (p.Arg260Cys)	CEP120 (R234C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3368573	NM_001375405.1(CEP120):c.1517C>G (p.Pro506Arg)	CEP120 (P315R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3364760	NM_001375405.1(CEP120):c.2422C>T (p.Gln808Ter)	CEP120 (Q617* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 3360157	NM_001375405.1(CEP120):c.2075G>A (p.Arg692Gln)	CEP120 (R501Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3345885	NM_001375405.1(CEP120):c.541G>T (p.Gly181Ter)	CEP120 (G155* +1 more)	Single nucleotide variant (nonsense +2 more)	CEP120-related disorder	GLikely pathogenic
Select item 3265986	NM_001375405.1(CEP120):c.2645T>G (p.Leu882Arg)	CEP120 (L856R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3265984	NM_001375405.1(CEP120):c.2818G>A (p.Gly940Ser)	CEP120 (G749S +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3265983	NM_001375405.1(CEP120):c.2875G>A (p.Gly959Ser)	CEP120 (G959S +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3265982	NM_001375405.1(CEP120):c.2296G>A (p.Val766Ile)	CEP120 (V740I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3265981	NM_001375405.1(CEP120):c.1465A>G (p.Ile489Val)	CEP120 (I444V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3265980	NM_001375405.1(CEP120):c.1546A>G (p.Thr516Ala)	CEP120 (T516A +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3265979	NM_001375405.1(CEP120):c.2290C>T (p.His764Tyr)	CEP120 (H573Y +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3265978	NM_001375405.1(CEP120):c.2771T>C (p.Ile924Thr)	CEP120 (I879T +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3265977	NM_001375405.1(CEP120):c.751C>T (p.Arg251Cys)	CEP120 (R225C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3265975	NM_001375405.1(CEP120):c.1936C>G (p.Arg646Gly)	CEP120 (R455G +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3142493	NM_001375405.1(CEP120):c.67C>T (p.Arg23Cys)	CEP120 (R23C)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3142492	NM_001375405.1(CEP120):c.40A>G (p.Ile14Val)	CEP120 (I14V)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3142491	NM_001375405.1(CEP120):c.2435C>A (p.Pro812Gln)	CEP120 (P767Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3142490	NM_001375405.1(CEP120):c.1177C>A (p.Pro393Thr)	CEP120 (P348T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3142488	NM_001375405.1(CEP120):c.1102A>G (p.Thr368Ala)	CEP120 (T342A +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3142487	NM_001375405.1(CEP120):c.1039T>A (p.Ser347Thr)	CEP120 (S156T +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3062848	GRCh37/hg19 5q15-23.2(chr5:93828571-123711334)x1	AP3S1, APC +80 more	Copy number loss	not specified	GPathogenic
Select item 3060475	NM_001375405.1(CEP120):c.1431-5dup	CEP120	Duplication (intron variant)	CEP120-related disorder	GLikely benign
Select item 3057918	NM_001375405.1(CEP120):c.1542T>C (p.Phe514=)	CEP120	Single nucleotide variant (synonymous variant +1 more)	CEP120-related disorder	GLikely benign
Select item 3051363	NM_001375405.1(CEP120):c.464-8C>T	CEP120	Single nucleotide variant (intron variant)	CEP120-related disorder	GLikely benign
Select item 3045073	NM_001375405.1(CEP120):c.1431-12_1431-10dup	CEP120	Duplication (intron variant)	CEP120-related disorder	GLikely benign
Select item 3029921	NM_001375405.1(CEP120):c.1431-16_1431-10del	CEP120	Deletion (intron variant)	CEP120-related disorder	GLikely benign
Select item 3029910	NM_001375405.1(CEP120):c.2685C>T (p.Thr895=)	CEP120	Single nucleotide variant (synonymous variant +1 more)	CEP120-related disorder	GLikely benign
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 2684428	GRCh37/hg19 5q23.2(chr5:122630230-122908567)x3	CEP120, CSNK1G3	Copy number gain	not provided	GUncertain significance
Select item 2655664	NM_001375405.1(CEP120):c.864T>C (p.Thr288=)	CEP120	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655663	NM_001375405.1(CEP120):c.2727-38C>T	CEP120	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2595417	NM_001375405.1(CEP120):c.1990C>G (p.Gln664Glu)	CEP120 (Q619E +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2588040	NM_001375405.1(CEP120):c.2897G>A (p.Arg966Gln)	CEP120 (R921Q +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2582609	NM_001375405.1(CEP120):c.2044G>T (p.Ala682Ser)	CEP120 (A491S +3 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 31	GUncertain significance
Select item 2569057	NM_001375405.1(CEP120):c.2203A>G (p.Arg735Gly)	CEP120 (R709G +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2560105	NM_001375405.1(CEP120):c.1904C>T (p.Ala635Val)	CEP120 (A444V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

<< First< Prev

Page of 6