"Ambry Genetics"[submitter] AND "CEP120"[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2227629	NM_001375405.1(CEP120):c.2954G>A (p.Ser985Asn)	CEP120 (S794N +3 more)	Single nucleotide variant (missense variant +2 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 2475504	NM_001375405.1(CEP120):c.2807T>G (p.Val936Gly)	CEP120 (V936G +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2406689	NM_001375405.1(CEP120):c.2711G>T (p.Arg904Ile)	CEP120 (R859I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 542763	NM_001375405.1(CEP120):c.2647C>T (p.Arg883Cys)	CEP120 (R883C +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2265734	NM_001375405.1(CEP120):c.2573T>C (p.Leu858Pro)	CEP120 (L667P +3 more)	Single nucleotide variant (missense variant +1 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 661929	NM_001375405.1(CEP120):c.2237G>A (p.Arg746Gln)	CEP120 (R746Q +3 more)	Single nucleotide variant (missense variant +1 more)	CEP120-related condition +2 more	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 2487866	NM_001375405.1(CEP120):c.2165G>A (p.Arg722Gln)	CEP120 (R531Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2297124	NM_001375405.1(CEP120):c.2165G>C (p.Arg722Pro)	CEP120 (R696P +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 596583	NM_001375405.1(CEP120):c.2119A>G (p.Ile707Val)	CEP120 (I707V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2536401	NM_001375405.1(CEP120):c.1996G>C (p.Asp666His)	CEP120 (D475H +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2331008	NM_001375405.1(CEP120):c.1909T>C (p.Cys637Arg)	CEP120 (C446R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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
Select item 2474217	NM_001375405.1(CEP120):c.1790C>G (p.Ser597Cys)	CEP120 (S597C +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2491785	NM_001375405.1(CEP120):c.1684A>T (p.Thr562Ser)	CEP120 (T536S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 577784	NM_001375405.1(CEP120):c.1684A>G (p.Thr562Ala)	CEP120 (T562A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1515217	NM_001375405.1(CEP120):c.1484T>C (p.Val495Ala)	CEP120 (V304A +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2299676	NM_001375405.1(CEP120):c.1431-6T>C	CEP120	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 942866	NM_001375405.1(CEP120):c.1333A>T (p.Ile445Phe)	CEP120 (I254F +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2550955	NM_001375405.1(CEP120):c.1322C>T (p.Ser441Leu)	CEP120 (S396L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1928662	NM_001375405.1(CEP120):c.1190A>C (p.Asp397Ala)	CEP120 (D371A +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 642185	NM_001375405.1(CEP120):c.1180C>T (p.Pro394Ser)	CEP120 (P394S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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 2545513	NM_001375405.1(CEP120):c.1142C>A (p.Pro381Gln)	CEP120 (P355Q +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1308415	NM_001375405.1(CEP120):c.1129G>A (p.Gly377Arg)	CEP120 (G186R +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 972143	NM_001375405.1(CEP120):c.1119G>C (p.Lys373Asn)	CEP120 (K182N +2 more)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 31 +3 more	GConflicting classifications of pathogenicity
Select item 707477	NM_001375405.1(CEP120):c.1112A>G (p.Lys371Arg)	CEP120 (K345R +2 more)	Single nucleotide variant (missense variant +2 more)	Short-rib thoracic dysplasia 13 with or without polydactyly +5 more	GBenign/Likely benign
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 1433888	NM_001375405.1(CEP120):c.916G>A (p.Glu306Lys)	CEP120 (E280K +2 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 13 with or without polydactyly +1 more	GUncertain significance
Select item 2318161	NM_001375405.1(CEP120):c.900G>C (p.Gln300His)	CEP120 (Q109H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2473627	NM_001375405.1(CEP120):c.883A>G (p.Ser295Gly)	CEP120 (S104G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2528232	NM_001375405.1(CEP120):c.862A>T (p.Thr288Ser)	CEP120 (T288S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2242477	NM_001375405.1(CEP120):c.793C>T (p.Leu265Phe)	CEP120 (L265F +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 707490	NM_001375405.1(CEP120):c.779G>A (p.Arg260His)	CEP120 (R260H +2 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 13 with or without polydactyly +3 more	GBenign/Likely benign
Select item 2276136	NM_001375405.1(CEP120):c.758G>A (p.Arg253His)	CEP120 (R62H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2465230	NM_001375405.1(CEP120):c.724A>C (p.Asn242His)	CEP120 (N242H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2259796	NM_001375405.1(CEP120):c.707A>C (p.Asn236Thr)	CEP120 (N236T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1026152	NM_001375405.1(CEP120):c.634C>G (p.Leu212Val)	CEP120 (L186V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1600004	NM_001375405.1(CEP120):c.610C>A (p.Gln204Lys)	CEP120 (Q13K +2 more)	Single nucleotide variant (missense variant +1 more)	CEP120-related condition +3 more	GBenign/Likely benign
Select item 2229708	NM_001375405.1(CEP120):c.536A>G (p.Gln179Arg)	CEP120 (Q179R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2292157	NM_001375405.1(CEP120):c.449C>T (p.Pro150Leu)	CEP120 (P124L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 571693	NM_001375405.1(CEP120):c.409A>G (p.Lys137Glu)	CEP120 (K137E +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 2276019	NM_001375405.1(CEP120):c.391G>T (p.Ala131Ser)	CEP120 (A105S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 839155	NM_001375405.1(CEP120):c.358A>G (p.Thr120Ala)	CEP120 (T94A +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1062263	NM_001375405.1(CEP120):c.304G>A (p.Ala102Thr)	CEP120 (A102T +1 more)	Single nucleotide variant (missense variant +2 more)	Short-rib thoracic dysplasia 13 with or without polydactyly +1 more	GConflicting classifications of pathogenicity
Select item 1639673	NM_001375405.1(CEP120):c.280T>A (p.Tyr94Asn)	CEP120 (Y68N +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 476165	NM_001375405.1(CEP120):c.278G>A (p.Gly93Asp)	CEP120 (G93D +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2483877	NM_001375405.1(CEP120):c.214C>A (p.Arg72Ser)	CEP120 (R72S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1343030	NM_001375405.1(CEP120):c.196C>T (p.His66Tyr)	CEP120 (H40Y +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2387567	NM_001375405.1(CEP120):c.118G>T (p.Ala40Ser)	CEP120 (A14S +1 more)	Single nucleotide variant (missense variant +2 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 2248122	NM_001375405.1(CEP120):c.14C>A (p.Ser5Tyr)	CEP120 (S5Y)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance

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Items: 57