CEP95[gene] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 146504	GRCh38/hg38 17q23.3-24.1(chr17:64307125-64748462)x1	CEP95, DDX5 +22 more	Copy number loss	See cases	GUncertain significance
Select item 3143102	NM_138363.3(CEP95):c.4G>A (p.Ala2Thr)	CEP95, LOC130061442 (A2T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2231296	NM_138363.3(CEP95):c.31A>G (p.Ile11Val)	CEP95 (I11V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 3266292	NM_138363.3(CEP95):c.44T>G (p.Leu15Arg)	CEP95 (L15R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2569148	NM_138363.3(CEP95):c.59A>G (p.His20Arg)	CEP95 (H20R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3143091	NM_138363.3(CEP95):c.127A>G (p.Ile43Val)	CEP95 (I43V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3143097	NM_138363.3(CEP95):c.206T>C (p.Ile69Thr)	CEP95 (I69T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3143098	NM_138363.3(CEP95):c.234G>T (p.Gln78His)	CEP95 (Q78H)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3266291	NM_138363.3(CEP95):c.359A>G (p.His120Arg)	CEP95 (H120R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2455926	NM_138363.3(CEP95):c.401G>A (p.Arg134Gln)	CEP95 (R134Q)	Single nucleotide variant (missense variant +2 more)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3266294	NM_138363.3(CEP95):c.895A>G (p.Thr299Ala)	CEP95 (T135A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3266296	NM_138363.3(CEP95):c.1132C>T (p.Arg378Trp)	CEP95 (R214W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3143089	NM_138363.3(CEP95):c.1241C>G (p.Thr414Ser)	CEP95 (T250S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143090	NM_138363.3(CEP95):c.1276G>A (p.Val426Met)	CEP95 (V262M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2525102	NM_138363.3(CEP95):c.1312T>C (p.Ser438Pro)	CEP95 (S274P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3266293	NM_138363.3(CEP95):c.1397A>G (p.Lys466Arg)	CEP95 (K466R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	GLikely benign
Select item 3143092	NM_138363.3(CEP95):c.1521T>A (p.His507Gln)	CEP95 (H507Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554698	NM_138363.3(CEP95):c.1556G>A (p.Gly519Glu)	CEP95 (G355E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3143093	NM_138363.3(CEP95):c.1780G>T (p.Val594Phe)	CEP95 (V430F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143095	NM_138363.3(CEP95):c.1801G>T (p.Ala601Ser)	CEP95 (A437S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143094	NM_138363.3(CEP95):c.1801G>A (p.Ala601Thr)	CEP95 (A437T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143096	NM_138363.3(CEP95):c.2018A>G (p.Tyr673Cys)	CEP95 (Y509C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3266295	NM_138363.3(CEP95):c.2309G>C (p.Arg770Thr)	CEP95 (R606T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143099	NM_138363.3(CEP95):c.2380G>A (p.Val794Ile)	CEP95 (V630I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3143101	NM_138363.3(CEP95):c.2407C>T (p.Arg803Cys)	CEP95 (R803C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3148898	GRCh37/hg19 17q23.2-23.3(chr17:58596397-62540700)x3	ACE, APPBP2 +43 more	Copy number gain	See cases	GUncertain significance
Select item 685257	GRCh37/hg19 17q23.1-24.2(chr17:57869604-67078443)x3	ABCA6, ABCA8 +79 more	Copy number gain	not provided	GPathogenic
Select item 625756	GRCh37/hg19 17q22-24.2(chr17:57357088-66306668)	ACE, AMZ2 +77 more	Copy number gain	not provided	GPathogenic
Select item 477396	NC_000017.10:g.(?_62018111)_(62987152_?)dup	DDX5, ERN1 +10 more	Duplication	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 395499	GRCh37/hg19 17q23.3-24.1(chr17:62532634-62620233)x1	CEP95, SMURF2	Copy number loss	See cases	GBenign
Select item 58702	GRCh37/hg19 17q23-24(chr17:59209629-64222315)x3	ACE, APOH +48 more	Copy number gain	See cases	GPathogenic

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Items: 62