ClinVar for MedGen (Select 481473) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3019549	NM_014679.5(CEP57):c.1301A>C (p.Lys434Thr)	CEP57 (K408T +3 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 3011565	NM_014679.5(CEP57):c.422A>T (p.Asn141Ile)	CEP57 (N114I +2 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 3007865	NM_014679.5(CEP57):c.45+17G>A	CEP57, LOC130006618	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 2	GLikely benign
Select item 3002545	NM_014679.5(CEP57):c.1296G>C (p.Lys432Asn)	CEP57 (K423N +3 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 3002405	NM_014679.5(CEP57):c.424C>A (p.Leu142Ile)	CEP57 (L142I +2 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2996691	NM_014679.5(CEP57):c.1463A>G (p.Gln488Arg)	CEP57 (Q479R +3 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2971283	NM_014679.5(CEP57):c.1236C>G (p.Ala412=)	CEP57	Single nucleotide variant (synonymous variant)	Mosaic variegated aneuploidy syndrome 2	GLikely benign
Select item 2968539	NM_014679.5(CEP57):c.383-10T>C	CEP57	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 2	GLikely benign
Select item 2956966	NM_014679.5(CEP57):c.808-11_808-7del	CEP57	Microsatellite (intron variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2917373	NM_014679.5(CEP57):c.1127+5G>A	CEP57	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2916733	NM_014679.5(CEP57):c.599C>T (p.Thr200Ile)	CEP57 (T200I +2 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2914030	NM_014679.5(CEP57):c.1263C>A (p.Tyr421Ter)	CEP57 (Y394* +3 more)	Single nucleotide variant (nonsense)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2913232	NM_014679.5(CEP57):c.605T>A (p.Met202Lys)	CEP57 (M193K +2 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2908578	NM_014679.5(CEP57):c.381A>C (p.Gln127His)	CEP57 (Q118H +2 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2904845	NM_014679.5(CEP57):c.915C>G (p.Ala305=)	CEP57	Single nucleotide variant (synonymous variant)	Mosaic variegated aneuploidy syndrome 2	GLikely benign
Select item 2897060	NM_014679.5(CEP57):c.699+7T>C	CEP57	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 2	GLikely benign
Select item 2896964	NM_014679.5(CEP57):c.195C>T (p.Asn65=)	CEP57	Single nucleotide variant (synonymous variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2895854	NM_014679.5(CEP57):c.866T>C (p.Met289Thr)	CEP57 (M289T +2 more)	Single nucleotide variant (missense variant +1 more)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2895793	NM_014679.5(CEP57):c.305T>C (p.Ile102Thr)	CEP57 (I93T +2 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2894193	NM_014679.5(CEP57):c.382+9del	CEP57	Deletion (intron variant)	Mosaic variegated aneuploidy syndrome 2	GLikely benign
Select item 2892290	NM_014679.5(CEP57):c.1455A>G (p.Gln485=)	CEP57	Single nucleotide variant (synonymous variant)	Mosaic variegated aneuploidy syndrome 2	GLikely benign
Select item 2891537	NM_014679.5(CEP57):c.784A>C (p.Lys262Gln)	CEP57 (K262Q +2 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2891518	NM_014679.5(CEP57):c.152G>T (p.Arg51Leu)	CEP57 (R24L +2 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2888028	NM_014679.5(CEP57):c.700-19A>C	CEP57	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 2	GLikely benign
Select item 2884194	NM_014679.5(CEP57):c.699+1G>T	CEP57	Single nucleotide variant (splice donor variant)	Mosaic variegated aneuploidy syndrome 2	GLikely pathogenic
Select item 2873280	NM_014679.5(CEP57):c.312_313del (p.Tyr104_Lys105delinsTer)	CEP57	Microsatellite (nonsense)	Mosaic variegated aneuploidy syndrome 2	GPathogenic
Select item 2867506	NM_014679.5(CEP57):c.505G>A (p.Val169Ile)	CEP57 (V142I +2 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2865139	NM_014679.5(CEP57):c.499A>G (p.Lys167Glu)	CEP57 (K167E +2 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2865047	NM_014679.5(CEP57):c.718A>G (p.Thr240Ala)	CEP57 (T213A +2 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2859182	NM_014679.5(CEP57):c.1255C>T (p.Arg419Ter)	CEP57 (R419* +3 more)	Single nucleotide variant (nonsense)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2858145	NM_014679.5(CEP57):c.798A>T (p.Pro266=)	CEP57	Single nucleotide variant (synonymous variant)	Mosaic variegated aneuploidy syndrome 2	GLikely benign
Select item 2858071	NM_014679.5(CEP57):c.504+4A>G	CEP57	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2851060	NM_014679.5(CEP57):c.1459A>G (p.Ile487Val)	CEP57 (I487V +3 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2850027	NM_014679.5(CEP57):c.202+17A>C	CEP57	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 2	GLikely benign
Select item 2842019	NM_014679.5(CEP57):c.666G>A (p.Gln222=)	CEP57	Single nucleotide variant (synonymous variant)	Mosaic variegated aneuploidy syndrome 2	GLikely benign
Select item 2828215	NM_014679.5(CEP57):c.622-2A>G	CEP57	Single nucleotide variant (splice acceptor variant)	Mosaic variegated aneuploidy syndrome 2	GLikely pathogenic
Select item 2820395	NM_014679.5(CEP57):c.207A>G (p.Ile69Met)	CEP57 (I60M +2 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2819602	NM_014679.5(CEP57):c.1491T>C (p.Cys497=)	CEP57	Single nucleotide variant (synonymous variant)	Mosaic variegated aneuploidy syndrome 2	GLikely benign
Select item 2812744	NM_014679.5(CEP57):c.402A>C (p.Leu134Phe)	CEP57 (L107F +2 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2810676	NM_014679.5(CEP57):c.274G>C (p.Glu92Gln)	CEP57 (E83Q +2 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2764742	NM_014679.5(CEP57):c.487T>C (p.Ser163Pro)	CEP57 (S163P +2 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2763721	NM_014679.5(CEP57):c.81C>A (p.Ser27Arg)	CEP57 (S18R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2750214	NM_014679.5(CEP57):c.781A>G (p.Lys261Glu)	CEP57 (K252E +2 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2746888	NM_014679.5(CEP57):c.812G>C (p.Ser271Thr)	CEP57 (S271T +2 more)	Single nucleotide variant (missense variant +1 more)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2742392	NM_014679.5(CEP57):c.1430dup (p.Asn477fs)	CEP57 (N468fs +3 more)	Duplication (frameshift variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2730561	NM_014679.5(CEP57):c.20C>T (p.Ser7Phe)	CEP57, LOC130006618 (S7F)	Single nucleotide variant (5 prime UTR variant +1 more)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2727016	NM_014679.5(CEP57):c.1272+12_1272+13del	CEP57	Deletion (intron variant)	Mosaic variegated aneuploidy syndrome 2	GLikely benign
Select item 2725460	NM_014679.5(CEP57):c.382+14G>T	CEP57	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 2	GLikely benign
Select item 2723651	NM_014679.5(CEP57):c.148C>A (p.Leu50Ile)	CEP57 (L41I +2 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2722479	NM_014679.5(CEP57):c.61C>T (p.Pro21Ser)	CEP57 (P12S +1 more)	Single nucleotide variant (missense variant +1 more)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2722121	NM_014679.5(CEP57):c.1179G>T (p.Leu393=)	CEP57	Single nucleotide variant (synonymous variant)	Mosaic variegated aneuploidy syndrome 2	GLikely benign
Select item 2721353	NM_014679.5(CEP57):c.1387A>G (p.Lys463Glu)	CEP57 (K436E +3 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2720271	NM_014679.5(CEP57):c.1128-16_1128-14del	CEP57	Deletion (intron variant)	Mosaic variegated aneuploidy syndrome 2	GLikely benign
Select item 2718707	NM_014679.5(CEP57):c.421A>C (p.Asn141His)	CEP57 (N132H +2 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2710872	NM_014679.5(CEP57):c.341A>G (p.Glu114Gly)	CEP57 (E114G +2 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2709051	NM_014679.5(CEP57):c.568G>A (p.Asp190Asn)	CEP57 (D163N +2 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2697241	NM_014679.5(CEP57):c.998C>T (p.Ala333Val)	CEP57 (A324V +3 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2642305	NM_014679.5(CEP57):c.729T>C (p.Leu243=)	CEP57	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2439913	NM_014679.5(CEP57):c.142A>T (p.Ser48Cys)	CEP57 (S21C +2 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2425964	NC_000011.9:g.(?_95523863)_(95564420_?)del	CEP57	Deletion	Mosaic variegated aneuploidy syndrome 2	GPathogenic
Select item 2425963	NC_000011.9:g.(?_95549619)_(95562458_?)del	CEP57	Deletion	Mosaic variegated aneuploidy syndrome 2	GLikely pathogenic
Select item 2420833	NM_014679.5(CEP57):c.952A>G (p.Ser318Gly)	CEP57 (S291G +3 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2413852	NM_014679.5(CEP57):c.56C>G (p.Ala19Gly)	CEP57 (A10G +1 more)	Single nucleotide variant (missense variant +1 more)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2308064	NM_014679.5(CEP57):c.1234G>A (p.Ala412Thr)	CEP57 (A412T +3 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 2 +1 more	GUncertain significance
Select item 2255534	NM_014679.5(CEP57):c.1147A>G (p.Lys383Glu)	CEP57 (K357E +3 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 2 +1 more	GUncertain significance
Select item 2199076	NM_014679.5(CEP57):c.1325del (p.Lys442fs)	CEP57 (K415fs +3 more)	Deletion (frameshift variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2196940	NM_014679.5(CEP57):c.86T>G (p.Val29Gly)	CEP57 (V2G +2 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2196690	NM_014679.5(CEP57):c.526C>G (p.Gln176Glu)	CEP57 (Q167E +2 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2195164	NM_014679.5(CEP57):c.1358G>A (p.Arg453His)	CEP57 (R426H +3 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2191915	NM_014679.5(CEP57):c.755G>T (p.Cys252Phe)	CEP57 (C225F +2 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2191009	NM_014679.5(CEP57):c.1165C>G (p.Pro389Ala)	CEP57 (P362A +3 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2189598	NM_014679.5(CEP57):c.46-10dup	CEP57	Duplication (intron variant)	Mosaic variegated aneuploidy syndrome 2	GLikely benign
Select item 2187619	NM_014679.5(CEP57):c.1267G>A (p.Ala423Thr)	CEP57 (A397T +3 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2185708	NM_014679.5(CEP57):c.202+16G>A	CEP57	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 2	GLikely benign
Select item 2183036	NM_014679.5(CEP57):c.621+13G>A	CEP57	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2178533	NM_014679.5(CEP57):c.1011T>G (p.Ser337=)	CEP57	Single nucleotide variant (synonymous variant)	Mosaic variegated aneuploidy syndrome 2	GLikely benign
Select item 2169972	NM_014679.5(CEP57):c.20_21del (p.Ser7fs)	CEP57, LOC130006618 (S7fs)	Microsatellite (5 prime UTR variant +1 more)	Mosaic variegated aneuploidy syndrome 2	GPathogenic
Select item 2167402	NM_014679.5(CEP57):c.1128-19A>G	CEP57	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 2	GLikely benign
Select item 2164938	NM_014679.5(CEP57):c.341A>T (p.Glu114Val)	CEP57 (E105V +2 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2162461	NM_014679.5(CEP57):c.1272+13T>G	CEP57	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 2	GLikely benign
Select item 2161490	NM_014679.5(CEP57):c.46-2A>T	CEP57	Single nucleotide variant (splice acceptor variant)	Mosaic variegated aneuploidy syndrome 2	GLikely pathogenic
Select item 2160401	NM_014679.5(CEP57):c.622-12T>C	CEP57	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 2	GLikely benign
Select item 2158275	NM_014679.5(CEP57):c.763A>T (p.Asn255Tyr)	CEP57 (N228Y +2 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2157964	NM_014679.5(CEP57):c.382+6T>C	CEP57	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2155856	NM_014679.5(CEP57):c.191G>A (p.Ser64Asn)	CEP57 (S37N +2 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 2 +1 more	GUncertain significance
Select item 2155195	NM_014679.5(CEP57):c.274G>A (p.Glu92Lys)	CEP57 (E83K +2 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2154792	NM_014679.5(CEP57):c.698A>T (p.Glu233Val)	CEP57 (E206V +2 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2149924	NM_014679.5(CEP57):c.33T>G (p.Gly11=)	CEP57, LOC130006618	Single nucleotide variant (synonymous variant +1 more)	Mosaic variegated aneuploidy syndrome 2	GLikely benign
Select item 2148741	NM_014679.5(CEP57):c.621+8C>T	CEP57	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2146184	NM_014679.5(CEP57):c.203-15G>A	CEP57	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 2	GLikely benign
Select item 2145435	NM_014679.5(CEP57):c.21T>C (p.Ser7=)	CEP57, LOC130006618	Single nucleotide variant (5 prime UTR variant +1 more)	Mosaic variegated aneuploidy syndrome 2	GLikely benign
Select item 2144200	NM_014679.5(CEP57):c.35C>T (p.Ser12Phe)	CEP57, LOC130006618 (S12F)	Single nucleotide variant (5 prime UTR variant +1 more)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2139874	NM_014679.5(CEP57):c.1128T>C (p.Phe376=)	CEP57	Single nucleotide variant (synonymous variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2138896	NM_014679.5(CEP57):c.42G>A (p.Leu14=)	CEP57, LOC130006618	Single nucleotide variant (5 prime UTR variant +1 more)	Mosaic variegated aneuploidy syndrome 2	GLikely benign
Select item 2133886	NM_014679.5(CEP57):c.908T>C (p.Val303Ala)	CEP57 (V303A +3 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2133355	NM_014679.5(CEP57):c.807+16C>A	CEP57	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 2	GLikely benign
Select item 2132002	NM_014679.5(CEP57):c.545T>A (p.Val182Asp)	CEP57 (V155D +2 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2125822	NM_014679.5(CEP57):c.215C>T (p.Ala72Val)	CEP57 (A45V +2 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2108703	NM_014679.5(CEP57):c.57T>A (p.Ala19=)	CEP57	Single nucleotide variant (synonymous variant +1 more)	Mosaic variegated aneuploidy syndrome 2	GLikely benign
Select item 2105713	NM_014679.5(CEP57):c.1206G>A (p.Glu402=)	CEP57	Single nucleotide variant (synonymous variant)	Mosaic variegated aneuploidy syndrome 2	GLikely benign

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