ClinVar for Gene (Select 80254) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3239229	NM_001353108.3(CEP63):c.363A>G (p.Gln121=)	CEP63	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3142982	NM_001353108.3(CEP63):c.934C>T (p.Arg312Trp)	CEP63 (R312W)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3142981	NM_001353108.3(CEP63):c.1736A>T (p.His579Leu)	CEP63 (H579L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3142980	NM_001353108.3(CEP63):c.1719C>G (p.His573Gln)	CEP63 (H573Q +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3142979	NM_001353108.3(CEP63):c.1157A>G (p.Asn386Ser)	CEP63 (N386S +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3142978	NM_001353108.3(CEP63):c.100A>T (p.Ile34Leu)	CEP63 (I6L +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3117204	NM_178554.6(KY):c.862G>A (p.Gly288Ser)	CEP63, KY (G272S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117203	NM_178554.6(KY):c.632C>G (p.Ala211Gly)	CEP63, KY (A190G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117202	NM_178554.6(KY):c.562G>A (p.Ala188Thr)	CEP63, KY (A172T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117201	NM_178554.6(KY):c.218A>G (p.Gln73Arg)	CEP63, KY (Q73R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3117200	NM_178554.6(KY):c.1456G>C (p.Val486Leu)	CEP63, KY +1 more (V465L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3117199	NM_178554.6(KY):c.1133C>A (p.Thr378Lys)	CEP63, KY (T357K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3064685	NM_178554.6(KY):c.337+5G>T	CEP63, KY (M93I)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 7	GUncertain significance
Select item 3063678	NM_001353108.3(CEP63):c.530T>C (p.Leu177Pro)	CEP63 (L149P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3050371	NM_178554.6(KY):c.1090+188G>A	CEP63, KY	Single nucleotide variant (synonymous variant +1 more)	KY-related disorder	GLikely benign
Select item 3049936	NM_178554.6(KY):c.710+4C>T	CEP63, KY	Single nucleotide variant (intron variant)	KY-related disorder	GLikely benign
Select item 3045499	NM_178554.6(KY):c.263-3T>C	CEP63, KY	Single nucleotide variant (intron variant)	KY-related disorder	GLikely benign
Select item 3044565	NM_178554.6(KY):c.1773C>T (p.Ala591=)	CEP63, KY	Single nucleotide variant (synonymous variant)	KY-related disorder	GLikely benign
Select item 3041948	NM_178554.6(KY):c.337+22A>G	CEP63, KY	Single nucleotide variant (intron variant)	KY-related disorder	GLikely benign
Select item 3040714	NM_178554.6(KY):c.400+10A>C	CEP63, KY	Single nucleotide variant (intron variant)	KY-related disorder	GLikely benign
Select item 3039560	NM_178554.6(KY):c.1090+107C>T	CEP63, KY	Single nucleotide variant (synonymous variant +1 more)	KY-related disorder	GLikely benign
Select item 3026338	NM_178554.6(KY):c.1374G>A (p.Ser458=)	LOC123038188, KY +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025249	NM_001042384.2(CEP63):c.1354A>T (p.Ser452Cys)	CEP63 (S452C +1 more)	Single nucleotide variant (missense variant)	CEP63-related disorder +1 more	GBenign
Select item 3020266	NM_001353108.3(CEP63):c.1673+18T>C	CEP63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3014504	NM_001353108.3(CEP63):c.2064A>G (p.Leu688=)	CEP63	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3001629	NM_001353108.3(CEP63):c.441+1G>A	CEP63	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3001433	NM_001353108.3(CEP63):c.1468-19T>C	CEP63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998120	NM_001353108.3(CEP63):c.478C>T (p.Arg160Cys)	CEP63 (R160C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2988763	NM_001353108.3(CEP63):c.1279C>T (p.Arg427Ter)	CEP63 (R353* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2981125	NM_001353108.3(CEP63):c.1692C>T (p.His564=)	CEP63	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 2976984	NM_001353108.3(CEP63):c.1467+8A>T	CEP63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970644	NM_001353108.3(CEP63):c.1674-15T>C	CEP63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970378	NM_001353108.3(CEP63):c.1674-14A>C	CEP63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968776	NM_001353108.3(CEP63):c.1099C>T (p.Leu367=)	CEP63	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2968193	NM_001353108.3(CEP63):c.40G>A (p.Gly14Ser)	CEP63 (W24* +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2963189	NM_001353108.3(CEP63):c.1068-20A>T	CEP63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2904165	NM_001353108.3(CEP63):c.33A>G (p.Arg11=)	CEP63 (R22G)	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2894131	NM_001353108.3(CEP63):c.474G>A (p.Lys158=)	CEP63	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2880807	NM_001353108.3(CEP63):c.642G>A (p.Glu214=)	CEP63	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2879456	NM_001353108.3(CEP63):c.718del (p.Thr240fs)	CEP63 (T212fs +3 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2879425	NM_001353108.3(CEP63):c.1954-18A>C	CEP63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2874417	NM_001353108.3(CEP63):c.999C>T (p.Leu333=)	CEP63	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2872570	NM_001353108.3(CEP63):c.846C>T (p.Leu282=)	CEP63	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2839205	NM_001353108.3(CEP63):c.1836G>A (p.Leu612=)	CEP63	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2819246	NM_001353108.3(CEP63):c.792T>C (p.Ala264=)	CEP63	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2816043	NM_001353108.3(CEP63):c.442-4_442-3del	CEP63	Deletion (intron variant)	not provided	GUncertain significance
Select item 2815946	NM_001353108.3(CEP63):c.1159G>T (p.Glu387Ter)	CEP63 (E341* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2799703	NM_001353108.3(CEP63):c.1627_1673+31del	CEP63	Deletion (intron variant +1 more)	not provided	GLikely pathogenic
Select item 2777203	NM_001353108.3(CEP63):c.1201C>T (p.Gln401Ter)	CEP63 (Q364* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2776837	NM_001353108.3(CEP63):c.1389G>A (p.Leu463=)	CEP63	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2752580	NM_001353108.3(CEP63):c.1468-7T>C	CEP63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2747812	NM_001353108.3(CEP63):c.155C>G (p.Thr52Ser)	CEP63 (T24S +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2719545	NM_001353108.3(CEP63):c.449G>A (p.Arg150His)	CEP63 (R122H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2712437	NM_001353108.3(CEP63):c.387C>A (p.Thr129=)	CEP63	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2707896	NM_001353108.3(CEP63):c.987dup (p.Asp330fs)	CEP63 (D330fs)	Duplication (frameshift variant +2 more)	not provided	GPathogenic
Select item 2689338	NM_178554.6(KY):c.1895C>G (p.Ala632Gly)	CEP63, KY (A611G +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 7	GUncertain significance
Select item 2654166	NM_178554.6(KY):c.123G>A (p.Leu41=)	CEP63, KY	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654165	NM_178554.6(KY):c.1438T>C (p.Cys480Arg)	CEP63, KY +1 more (C459R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2654164	NM_001353108.3(CEP63):c.27A>G (p.Gln9=)	CEP63 (K20E)	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2633875	NM_001353108.3(CEP63):c.1154A>C (p.Asn385Thr)	CEP63 (N218T +4 more)	Single nucleotide variant (missense variant +1 more)	CEP63-related disorder	GUncertain significance
Select item 2623238	NM_178554.6(KY):c.119T>A (p.Leu40Gln)	CEP63, KY (L40Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610005	NM_178554.6(KY):c.374G>A (p.Arg125Gln)	CEP63, KY (R83Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599724	NM_001353108.3(CEP63):c.2039G>A (p.Arg680His)	CEP63 (R444H +6 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2581612	NM_001353108.3(CEP63):c.490C>T (p.Gln164Ter)	CEP63 (Q136* +3 more)	Single nucleotide variant (nonsense +1 more)	Seckel syndrome 6	GPathogenic
Select item 2581449	NM_178554.6(KY):c.481C>T (p.Gln161Ter)	KY, CEP63 (Q119* +3 more)	Single nucleotide variant (nonsense)	Myofibrillar myopathy 7	GPathogenic
Select item 2574870	NM_178554.6(KY):c.560G>A (p.Arg187His)	CEP63, KY (R145H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572780	NM_178554.6(KY):c.137-2A>G	CEP63, KY	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GUncertain significance
Select item 2560034	NM_178554.6(KY):c.1734C>A (p.Asp578Glu)	CEP63, KY (D578E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535692	NM_178554.6(KY):c.347G>A (p.Gly116Asp)	CEP63, KY (G100D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2505567	NM_001353108.3(CEP63):c.790-11C>G	CEP63	Single nucleotide variant (intron variant)	Seckel syndrome 6	GUncertain significance
Select item 2490574	NM_178554.6(KY):c.1024C>T (p.His342Tyr)	CEP63, KY (H300Y +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489533	NM_178554.6(KY):c.422G>A (p.Ser141Asn)	CEP63, KY (S141N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487042	NM_001353108.3(CEP63):c.1564A>C (p.Asn522His)	CEP63 (N522H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2486026	NM_001353108.3(CEP63):c.781C>G (p.Leu261Val)	CEP63 (L233V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2463356	NM_178554.6(KY):c.785C>T (p.Ser262Leu)	CEP63, KY (S262L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461710	NM_178554.6(KY):c.1456G>A (p.Val486Met)	CEP63, KY +1 more (V465M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2441032	NM_178554.6(KY):c.76del (p.Ala26fs)	CEP63, KY (A26fs)	Deletion (frameshift variant)	Myofibrillar myopathy 7	GLikely pathogenic
Select item 2433274	NM_178554.6(KY):c.21C>G (p.Ile7Met)	CEP63, KY (I7M)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 7	GUncertain significance
Select item 2431057	NM_001353108.3(CEP63):c.1835del (p.Ser611_Leu612insTer)	CEP63	Deletion (nonsense +2 more)	Seckel syndrome 6	GLikely pathogenic
Select item 2426929	NC_000003.11:g.(?_134225951)_(134251742_?)del	CEP63	Deletion	not provided	GPathogenic
Select item 2419303	NM_001353108.3(CEP63):c.1288A>C (p.Thr430Pro)	CEP63 (T263P +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2419251	NM_001353108.3(CEP63):c.601T>C (p.Ser201Pro)	CEP63 (S173P +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2386422	NM_001353108.3(CEP63):c.2048C>T (p.Ala683Val)	CEP63 (A484V +6 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2377808	NM_178554.6(KY):c.715G>A (p.Ala239Thr)	CEP63, KY (A218T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374085	NM_178554.6(KY):c.1778G>A (p.Arg593Gln)	CEP63, KY (R593Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365840	NM_178554.6(KY):c.602T>C (p.Ile201Thr)	CEP63, KY (I180T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358438	NM_178554.6(KY):c.1726G>A (p.Gly576Arg)	CEP63, KY (G576R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332530	NM_001353108.3(CEP63):c.659T>C (p.Ile220Thr)	CEP63 (I229T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2332039	NM_178554.6(KY):c.110C>T (p.Pro37Leu)	CEP63, KY (P37L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330131	NM_001353108.3(CEP63):c.1472A>C (p.Lys491Thr)	CEP63 (K491T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2323823	NM_178554.6(KY):c.1020G>C (p.Met340Ile)	CEP63, KY (M298I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321532	NM_178554.6(KY):c.505G>C (p.Asp169His)	CEP63, KY (D153H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317052	NM_178554.6(KY):c.1355T>C (p.Val452Ala)	CEP63, KY +1 more (V452A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303980	NM_178554.6(KY):c.355A>T (p.Asn119Tyr)	CEP63, KY (N119Y +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302556	NM_001353108.3(CEP63):c.1820G>C (p.Ser607Thr)	CEP63 (S607T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2284255	NM_001353108.3(CEP63):c.1307G>A (p.Gly436Asp)	CEP63 (G399D +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2251885	NM_178554.6(KY):c.1652T>C (p.Val551Ala)	CEP63, KY (V530A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241749	NM_001353108.3(CEP63):c.1982C>T (p.Ser661Leu)	CEP63 (S332L +6 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2234468	NM_178554.6(KY):c.1615G>A (p.Val539Ile)	CEP63, KY (V518I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219004	NM_178554.6(KY):c.293G>A (p.Arg98Gln)	CEP63, KY (R77Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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