ClinVar for Gene (Select 79598) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247041	NC_000003.11:g.(?_101443521)_(101446405_?)dup	CEP97	Duplication	not provided	GUncertain significance
Select item 3247040	NC_000003.11:g.(?_99509527)_(101484395_?)del	COL8A1, FILIP1L +16 more	Deletion	not provided	GUncertain significance
Select item 3143110	NM_024548.4(CEP97):c.55A>C (p.Asn19His)	CEP97 (N19H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143109	NM_024548.4(CEP97):c.2554T>C (p.Cys852Arg)	CEP97 (C793R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143108	NM_024548.4(CEP97):c.2444G>T (p.Gly815Val)	CEP97 (G781V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143107	NM_024548.4(CEP97):c.205C>T (p.Arg69Trp)	CEP97 (R69W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143106	NM_024548.4(CEP97):c.2014C>A (p.Gln672Lys)	CEP97 (Q672K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143105	NM_024548.4(CEP97):c.1933C>T (p.Arg645Cys)	CEP97 (R586C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143104	NM_024548.4(CEP97):c.1729T>A (p.Tyr577Asn)	CEP97 (Y484N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143103	NM_024548.4(CEP97):c.1674A>C (p.Leu558Phe)	CEP97 (L465F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062743	GRCh37/hg19 3q11.1-12.3(chr3:93519465-101464485)x3	ABI3BP, ADGRG7 +41 more	Copy number gain	not specified	GUncertain significance
Select item 3062674	GRCh37/hg19 3q12.2-13.11(chr3:100369522-104621416)x1	ABI3BP, ADGRG7 +11 more	Copy number loss	not specified	GUncertain significance
Select item 3023436	NM_024548.4(CEP97):c.2424G>A (p.Gln808=)	CEP97	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021737	NM_024548.4(CEP97):c.2284A>G (p.Ser762Gly)	CEP97 (S703G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3021459	NM_024548.4(CEP97):c.663G>A (p.Pro221=)	CEP97	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016467	NM_024548.4(CEP97):c.105del (p.Ala36fs)	CEP97 (A36fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3012450	NM_024548.4(CEP97):c.937T>C (p.Leu313=)	CEP97	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011792	NM_024548.4(CEP97):c.2264A>C (p.His755Pro)	CEP97 (H721P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3010708	NM_024548.4(CEP97):c.1817+5G>A	CEP97	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3008246	NM_024548.4(CEP97):c.1758C>T (p.Tyr586=)	CEP97	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000757	NM_024548.4(CEP97):c.2060A>T (p.Asp687Val)	CEP97 (D594V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000445	NM_024548.4(CEP97):c.2363G>A (p.Arg788Lys)	CEP97 (R729K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2998007	NM_024548.4(CEP97):c.471C>T (p.Ile157=)	CEP97	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2995734	NM_024548.4(CEP97):c.1477A>G (p.Ile493Val)	CEP97 (I434V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2995112	NM_024548.4(CEP97):c.307C>T (p.His103Tyr)	CEP97 (H103Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2994886	NM_024548.4(CEP97):c.776G>A (p.Arg259Gln)	CEP97 (R225Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986482	NM_024548.4(CEP97):c.656A>G (p.Tyr219Cys)	CEP97 (Y219C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985842	NM_024548.4(CEP97):c.187-2A>T	CEP97	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2984292	NM_024548.4(CEP97):c.1400T>G (p.Met467Arg)	CEP97 (M433R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981508	NM_024548.4(CEP97):c.2216C>T (p.Thr739Ile)	CEP97 (T646I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2978496	NM_024548.4(CEP97):c.787C>A (p.His263Asn)	CEP97 (H229N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2978062	NM_024548.4(CEP97):c.1817+13T>A	CEP97	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976868	NM_024548.4(CEP97):c.187-20_187-19insTTT	CEP97	Insertion (intron variant)	not provided	GLikely benign
Select item 2976718	NM_024548.4(CEP97):c.1443A>G (p.Leu481=)	CEP97	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975466	NM_024548.4(CEP97):c.525T>G (p.Leu175=)	CEP97	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974604	NM_024548.4(CEP97):c.447+14_447+17del	CEP97	Deletion (intron variant)	not provided	GLikely benign
Select item 2969738	NM_024548.4(CEP97):c.1088C>T (p.Ala363Val)	CEP97 (A363V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2968593	NM_024548.4(CEP97):c.2141T>C (p.Leu714Ser)	CEP97 (L621S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967025	NM_024548.4(CEP97):c.2216C>A (p.Thr739Lys)	CEP97 (T705K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2966977	NM_024548.4(CEP97):c.1994A>G (p.His665Arg)	CEP97 (H572R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2965916	NM_024548.4(CEP97):c.915G>A (p.Met305Ile)	CEP97 (M271I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964627	NM_024548.4(CEP97):c.829A>T (p.Thr277Ser)	CEP97 (T243S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2963049	NM_024548.4(CEP97):c.187-5T>C	CEP97	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956862	NM_024548.4(CEP97):c.1124C>T (p.Thr375Met)	CEP97 (T341M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2956196	NM_024548.4(CEP97):c.1028-13T>C	CEP97	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2956099	NM_024548.4(CEP97):c.240G>A (p.Thr80=)	CEP97	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2920540	NM_024548.4(CEP97):c.2442C>A (p.Asp814Glu)	CEP97 (D755E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2915913	NM_024548.4(CEP97):c.660G>A (p.Arg220=)	CEP97	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2913474	NM_024548.4(CEP97):c.387C>T (p.Leu129=)	CEP97	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2907066	NM_024548.4(CEP97):c.1615A>G (p.Met539Val)	CEP97 (M539V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2900788	NM_024548.4(CEP97):c.1349A>T (p.Lys450Met)	CEP97 (K391M +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2895715	NM_024548.4(CEP97):c.1079A>G (p.Gln360Arg)	CEP97 (Q360R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2895714	NM_024548.4(CEP97):c.1066A>T (p.Ser356Cys)	CEP97 (S356C +1 more)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2894741	NM_024548.4(CEP97):c.75A>G (p.Leu25=)	CEP97	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892004	NM_024548.4(CEP97):c.1473T>C (p.Ser491=)	CEP97	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891484	NM_024548.4(CEP97):c.1458G>A (p.Glu486=)	CEP97	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891387	NM_024548.4(CEP97):c.249T>C (p.Arg83=)	CEP97	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2890682	NM_024548.4(CEP97):c.2099A>G (p.Asp700Gly)	CEP97 (D666G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2886424	NM_024548.4(CEP97):c.230C>T (p.Ala77Val)	CEP97 (A77V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2882524	NM_024548.4(CEP97):c.1249C>T (p.Pro417Ser)	CEP97 (P358S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2879142	NM_024548.4(CEP97):c.809T>C (p.Leu270Pro)	CEP97 (L270P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2877338	NM_024548.4(CEP97):c.1201T>G (p.Ser401Ala)	CEP97 (S401A +1 more)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2876531	NM_024548.4(CEP97):c.1492A>C (p.Asn498His)	CEP97 (N464H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2861317	NM_024548.4(CEP97):c.893+7C>G	CEP97	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2860438	NM_024548.4(CEP97):c.43+7C>T	CEP97, LOC129937160	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2840042	NM_024548.4(CEP97):c.1608A>C (p.Lys536Asn)	CEP97 (K477N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2835688	NM_024548.4(CEP97):c.447+12T>C	CEP97	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2820772	NM_024548.4(CEP97):c.1590T>G (p.Ser530=)	CEP97	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2809967	NM_024548.4(CEP97):c.1584C>G (p.Thr528=)	CEP97	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2804727	NM_024548.4(CEP97):c.511A>G (p.Ser171Gly)	CEP97 (S171G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2799813	NM_024548.4(CEP97):c.2311C>T (p.Leu771=)	CEP97	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2796139	NM_024548.4(CEP97):c.1314A>C (p.Glu438Asp)	CEP97 (E438D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2795895	NM_024548.4(CEP97):c.2324A>T (p.Tyr775Phe)	CEP97 (Y682F +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2793579	NM_024548.4(CEP97):c.2441A>G (p.Asp814Gly)	CEP97 (D721G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2782443	NM_024548.4(CEP97):c.893+7C>T	CEP97	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2769536	NM_024548.4(CEP97):c.2076G>T (p.Glu692Asp)	CEP97 (E599D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2767637	NM_024548.4(CEP97):c.894-17G>A	CEP97	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2748550	NM_024548.4(CEP97):c.2083_2084insC (p.Leu695fs)	CEP97 (L695fs +3 more)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 2748513	NM_024548.4(CEP97):c.2392A>T (p.Ser798Cys)	CEP97 (S705C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2742021	NM_024548.4(CEP97):c.777G>A (p.Arg259=)	CEP97	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2726246	NM_024548.4(CEP97):c.263C>T (p.Pro88Leu)	CEP97 (P88L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2722715	NM_024548.4(CEP97):c.2306A>G (p.Asn769Ser)	CEP97 (N769S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2720383	NM_024548.4(CEP97):c.1718A>G (p.Tyr573Cys)	CEP97 (Y539C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2712692	NM_024548.4(CEP97):c.2046G>C (p.Trp682Cys)	CEP97 (W682C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2707382	NM_024548.4(CEP97):c.853G>A (p.Ala285Thr)	CEP97 (A251T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2706543	NM_024548.4(CEP97):c.1111T>C (p.Ser371Pro)	CEP97 (S337P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2701659	NM_024548.4(CEP97):c.1584C>A (p.Thr528=)	CEP97	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2617663	NM_024548.4(CEP97):c.1805A>T (p.Asp602Val)	CEP97 (D509V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	ABHD10, ABI3BP +681 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 2557414	NM_024548.4(CEP97):c.2349A>T (p.Glu783Asp)	CEP97 (E690D +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2547833	NM_024548.4(CEP97):c.1339G>A (p.Val447Met)	CEP97 (V354M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527871	NM_024548.4(CEP97):c.1868A>C (p.Glu623Ala)	CEP97 (E564A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507516	NM_024548.4(CEP97):c.1727A>G (p.Asn576Ser)	CEP97 (N517S +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2491666	NM_024548.4(CEP97):c.2123C>T (p.Thr708Ile)	CEP97 (T615I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488343	NM_024548.4(CEP97):c.602C>T (p.Ser201Leu)	CEP97 (S167L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2416910	NM_024548.4(CEP97):c.447+4_447+7del	CEP97	Microsatellite (splice donor variant)	not provided	GUncertain significance
Select item 2398119	NM_024548.4(CEP97):c.2102C>T (p.Ser701Phe)	CEP97 (S667F +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2368901	NM_024548.4(CEP97):c.2013C>G (p.Ser671Arg)	CEP97 (S578R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359169	NM_024548.4(CEP97):c.1466T>C (p.Ile489Thr)	CEP97 (I455T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332379	NM_024548.4(CEP97):c.1412T>A (p.Ile471Asn)	CEP97 (I378N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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