"Ambry Genetics"[submitter] AND "CEP95"[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2231296	NM_138363.3(CEP95):c.31A>G (p.Ile11Val)	CEP95 (I11V)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2569148	NM_138363.3(CEP95):c.59A>G (p.His20Arg)	CEP95 (H20R)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2528021	NM_138363.3(CEP95):c.61A>G (p.Ile21Val)	CEP95 (I21V)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2240563	NM_138363.3(CEP95):c.63A>G (p.Ile21Met)	CEP95 (I21M)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2310167	NM_138363.3(CEP95):c.118T>A (p.Tyr40Asn)	CEP95 (Y40N)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2455926	NM_138363.3(CEP95):c.401G>A (p.Arg134Gln)	CEP95 (R134Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2531095	NM_138363.3(CEP95):c.560C>T (p.Thr187Ile)	CEP95 (T187I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2398884	NM_138363.3(CEP95):c.586A>G (p.Asn196Asp)	CEP95 (N32D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2240962	NM_138363.3(CEP95):c.673C>T (p.Pro225Ser)	CEP95 (P61S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2524879	NM_138363.3(CEP95):c.757C>G (p.Leu253Val)	CEP95 (L253V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2311754	NM_138363.3(CEP95):c.781A>G (p.Ile261Val)	CEP95 (I261V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2315327	NM_138363.3(CEP95):c.834A>G (p.Ile278Met)	CEP95 (I278M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2508946	NM_138363.3(CEP95):c.896C>T (p.Thr299Met)	CEP95 (T299M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2609378	NM_138363.3(CEP95):c.959A>C (p.Lys320Thr)	CEP95 (K156T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2494184	NM_138363.3(CEP95):c.973C>G (p.Pro325Ala)	CEP95 (P161A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2616420	NM_138363.3(CEP95):c.980A>G (p.Gln327Arg)	CEP95 (Q327R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2318805	NM_138363.3(CEP95):c.1073G>A (p.Arg358Lys)	CEP95 (R358K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2349059	NM_138363.3(CEP95):c.1177C>T (p.Arg393Trp)	CEP95 (R229W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2486723	NM_138363.3(CEP95):c.1199A>G (p.His400Arg)	CEP95 (H400R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2607077	NM_138363.3(CEP95):c.1229T>C (p.Val410Ala)	CEP95 (V246A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2525102	NM_138363.3(CEP95):c.1312T>C (p.Ser438Pro)	CEP95 (S274P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2392407	NM_138363.3(CEP95):c.1315A>G (p.Met439Val)	CEP95 (M439V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2616555	NM_138363.3(CEP95):c.1394G>A (p.Arg465Lys)	CEP95 (R465K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2329583	NM_138363.3(CEP95):c.1415G>C (p.Arg472Thr)	CEP95 (R308T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2588403	NM_138363.3(CEP95):c.1430G>A (p.Arg477His)	CEP95 (R313H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2554698	NM_138363.3(CEP95):c.1556G>A (p.Gly519Glu)	CEP95 (G355E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2537135	NM_138363.3(CEP95):c.1651A>G (p.Lys551Glu)	CEP95 (K387E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2610470	NM_138363.3(CEP95):c.2279C>A (p.Ser760Tyr)	CEP95 (S596Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2360222	NM_138363.3(CEP95):c.2390G>A (p.Arg797Gln)	CEP95 (R633Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2390974	NM_138363.3(CEP95):c.2404G>A (p.Glu802Lys)	CEP95 (E638K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2486589	NM_138363.3(CEP95):c.2441A>C (p.Gln814Pro)	CEP95 (Q814P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 31