CEP57[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	LOC130006570, LOC130006571 +474 more	Copy number loss	See cases	GPathogenic
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	KBTBD3, KDM4D +528 more	Copy number loss	See cases	GPathogenic
Select item 58919	GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	LOC101929174, LOC102723838 +378 more	Copy number loss	See cases	GPathogenic
Select item 148976	GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	LOC130006596, LOC130006597 +387 more	Copy number loss	See cases	GPathogenic
Select item 145480	GRCh38/hg38 11q21(chr11:94324282-96081666)x3	AMOTL1, ANKRD49 +57 more	Copy number gain	See cases	GUncertain significance
Select item 1391979	NM_014679.5(CEP57):c.3G>A (p.Met1Ile)	CEP57, LOC130006618 (M1I)	Single nucleotide variant (5 prime UTR variant +2 more)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 240921	NM_014679.5(CEP57):c.4G>A (p.Ala2Thr)	CEP57, LOC130006618 (A2T)	Single nucleotide variant (5 prime UTR variant +1 more)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 1409051	NM_014679.5(CEP57):c.8C>T (p.Ala3Val)	CEP57, LOC130006618 (A3V)	Single nucleotide variant (5 prime UTR variant +1 more)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 1428423	NM_014679.5(CEP57):c.11C>G (p.Ala4Gly)	CEP57, LOC130006618 (A4G)	Single nucleotide variant (5 prime UTR variant +1 more)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 1602624	NM_014679.5(CEP57):c.15T>G (p.Ser5=)	CEP57, LOC130006618	Single nucleotide variant (5 prime UTR variant +1 more)	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 1901739	NM_014679.5(CEP57):c.18C>G (p.Val6=)	CEP57, LOC130006618	Single nucleotide variant (5 prime UTR variant +1 more)	Mosaic variegated aneuploidy syndrome 2	GLikely benign
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 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 539592	NM_014679.5(CEP57):c.23C>T (p.Ala8Val)	CEP57, LOC130006618 (A8V)	Single nucleotide variant (5 prime UTR variant +1 more)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 642617	NM_014679.5(CEP57):c.25G>A (p.Ala9Thr)	CEP57, LOC130006618 (A9T)	Single nucleotide variant (5 prime UTR variant +1 more)	Mosaic variegated aneuploidy syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 539589	NM_014679.5(CEP57):c.26C>T (p.Ala9Val)	CEP57, LOC130006618 (A9V)	Single nucleotide variant (5 prime UTR variant +1 more)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 1510132	NM_014679.5(CEP57):c.29C>T (p.Ser10Phe)	CEP57, LOC130006618 (S10F)	Single nucleotide variant (5 prime UTR variant +1 more)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 971868	NM_014679.5(CEP57):c.31G>C (p.Gly11Arg)	CEP57, LOC130006618 (G11R)	Single nucleotide variant (5 prime UTR variant +1 more)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 1055005	NM_014679.5(CEP57):c.32G>T (p.Gly11Val)	CEP57, LOC130006618 (G11V)	Single nucleotide variant (5 prime UTR variant +1 more)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2149924	NM_014679.5(CEP57):c.33T>G (p.Gly11=)	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 735100	NM_014679.5(CEP57):c.36T>A (p.Ser12=)	CEP57, LOC130006618	Single nucleotide variant (5 prime UTR variant +1 more)	Mosaic variegated aneuploidy syndrome 2	GLikely benign
Select item 1472900	NM_014679.5(CEP57):c.37C>T (p.His13Tyr)	CEP57, LOC130006618 (H13Y)	Single nucleotide variant (5 prime UTR variant +1 more)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 836256	NM_014679.5(CEP57):c.39C>G (p.His13Gln)	CEP57, LOC130006618 (H13Q)	Single nucleotide variant (5 prime UTR variant +1 more)	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 2040895	NM_014679.5(CEP57):c.44C>T (p.Ser15Leu)	CEP57, LOC130006618 (S15L)	Single nucleotide variant (5 prime UTR variant +1 more)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2033829	NM_014679.5(CEP57):c.45+11_45+12insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAGCAG	CEP57, LOC130006618	Microsatellite (intron variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 1492234	NM_014679.5(CEP57):c.45+5G>A	CEP57, LOC130006618	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 1415013	NM_014679.5(CEP57):c.45+16C>T	CEP57, LOC130006618	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 2	GLikely benign
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 2075749	NM_014679.5(CEP57):c.45+17G>C	CEP57, LOC130006618	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 2	GLikely benign
Select item 2642304	NM_014679.5(CEP57):c.46-3673T>C	CEP57	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2189598	NM_014679.5(CEP57):c.46-10dup	CEP57	Duplication (intron variant)	Mosaic variegated aneuploidy syndrome 2	GLikely benign
Select item 1626689	NM_014679.5(CEP57):c.46-11T>C	CEP57	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 2	GLikely benign
Select item 1114391	NM_014679.5(CEP57):c.46-10T>C	CEP57	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 2	GLikely benign
Select item 1598016	NM_014679.5(CEP57):c.46-9A>T	CEP57	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 2	GLikely benign
Select item 793808	NM_014679.5(CEP57):c.46-9A>C	CEP57	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 2	GLikely benign
Select item 772977	NM_014679.5(CEP57):c.46-8T>A	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 1720273	NM_014679.5(CEP57):c.48C>A (p.Asn16Lys)	CEP57 (N16K +1 more)	Single nucleotide variant (missense variant +1 more)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 1160107	NM_014679.5(CEP57):c.48C>T (p.Asn16=)	CEP57	Single nucleotide variant (synonymous variant +1 more)	Mosaic variegated aneuploidy syndrome 2	GLikely benign
Select item 582024	NM_014679.5(CEP57):c.50G>C (p.Ser17Thr)	CEP57 (S17T +1 more)	Single nucleotide variant (missense variant +1 more)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 774550	NM_014679.5(CEP57):c.51C>T (p.Ser17=)	CEP57	Single nucleotide variant (synonymous variant +1 more)	Mosaic variegated aneuploidy syndrome 2	GLikely benign
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 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 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 1551367	NM_014679.5(CEP57):c.63A>G (p.Pro21=)	CEP57	Single nucleotide variant (synonymous variant +1 more)	Mosaic variegated aneuploidy syndrome 2	GLikely benign
Select item 539583	NM_014679.5(CEP57):c.65C>T (p.Ser22Leu)	CEP57 (S22L +1 more)	Single nucleotide variant (missense variant +1 more)	Mosaic variegated aneuploidy syndrome 2	GLikely benign
Select item 2068630	NM_014679.5(CEP57):c.69G>T (p.Arg23Ser)	CEP57 (R14S +1 more)	Single nucleotide variant (missense variant +1 more)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 3266225	NM_014679.5(CEP57):c.71C>G (p.Ser24Cys)	CEP57 (S15C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2519027	NM_014679.5(CEP57):c.74A>T (p.Asn25Ile)	CEP57 (N25I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1127796	NM_014679.5(CEP57):c.75T>C (p.Asn25=)	CEP57	Single nucleotide variant (synonymous variant +1 more)	Mosaic variegated aneuploidy syndrome 2	GLikely benign
Select item 2763721	NM_014679.5(CEP57):c.81C>A (p.Ser27Arg)	CEP57 (S18R +1 more)	Single nucleotide variant (missense variant +1 more)	Mosaic variegated aneuploidy syndrome 2 +1 more	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 837051	NM_014679.5(CEP57):c.88C>A (p.Arg30=)	CEP57	Single nucleotide variant (synonymous variant)	Mosaic variegated aneuploidy syndrome 2	GLikely benign
Select item 570921	NM_014679.5(CEP57):c.88C>T (p.Arg30Trp)	CEP57 (R30W +2 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 539593	NM_014679.5(CEP57):c.89G>A (p.Arg30Gln)	CEP57 (R30Q +2 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 191025	NM_014679.5(CEP57):c.89G>C (p.Arg30Pro)	CEP57 (R30P +2 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 1109587	NM_014679.5(CEP57):c.90G>C (p.Arg30=)	CEP57	Single nucleotide variant (synonymous variant)	Mosaic variegated aneuploidy syndrome 2	GLikely benign
Select item 539588	NM_014679.5(CEP57):c.95C>T (p.Ser32Phe)	CEP57 (S32F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1445491	NM_014679.5(CEP57):c.98C>T (p.Ser33Leu)	CEP57 (S33L +2 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 950469	NM_014679.5(CEP57):c.100T>C (p.Ser34Pro)	CEP57 (S25P +2 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 2 +1 more	GUncertain significance
Select item 1099296	NM_014679.5(CEP57):c.111A>G (p.Val37=)	CEP57	Single nucleotide variant (synonymous variant)	Mosaic variegated aneuploidy syndrome 2	GLikely benign
Select item 641896	NM_014679.5(CEP57):c.122C>T (p.Ser41Leu)	CEP57 (S41L +2 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 1405157	NM_014679.5(CEP57):c.123G>A (p.Ser41=)	CEP57	Single nucleotide variant (synonymous variant)	Mosaic variegated aneuploidy syndrome 2	GLikely benign
Select item 1403269	NM_014679.5(CEP57):c.131C>T (p.Pro44Leu)	CEP57 (P17L +2 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2095337	NM_014679.5(CEP57):c.132T>C (p.Pro44=)	CEP57	Single nucleotide variant (synonymous variant)	Mosaic variegated aneuploidy syndrome 2	GLikely benign
Select item 1113803	NM_014679.5(CEP57):c.138T>G (p.Leu46=)	CEP57	Single nucleotide variant (synonymous variant)	Mosaic variegated aneuploidy syndrome 2	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 1627398	NM_014679.5(CEP57):c.144T>C (p.Ser48=)	CEP57	Single nucleotide variant (synonymous variant)	Mosaic variegated aneuploidy syndrome 2	GLikely benign
Select item 857413	NM_014679.5(CEP57):c.145G>A (p.Asp49Asn)	CEP57 (D22N +2 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 2 +1 more	GUncertain significance
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 2041705	NM_014679.5(CEP57):c.148C>T (p.Leu50=)	CEP57	Single nucleotide variant (synonymous variant)	Mosaic variegated aneuploidy syndrome 2	GLikely benign
Select item 1532034	NM_014679.5(CEP57):c.150A>C (p.Leu50=)	CEP57	Single nucleotide variant (synonymous variant)	Mosaic variegated aneuploidy syndrome 2	GLikely benign
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 1464947	NM_014679.5(CEP57):c.152G>A (p.Arg51Gln)	CEP57 (R51Q +2 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 2 +1 more	GUncertain significance
Select item 1341330	NM_014679.5(CEP57):c.154C>T (p.Arg52Cys)	CEP57 (R25C +2 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 1420369	NM_014679.5(CEP57):c.155G>A (p.Arg52His)	CEP57 (R52H +2 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 2041053	NM_014679.5(CEP57):c.163A>G (p.Ser55Gly)	CEP57 (S46G +2 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 843213	NM_014679.5(CEP57):c.170C>G (p.Pro57Arg)	CEP57 (P57R +2 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 793473	NM_014679.5(CEP57):c.174A>G (p.Thr58=)	CEP57	Single nucleotide variant (synonymous variant)	Mosaic variegated aneuploidy syndrome 2	GLikely benign
Select item 1418901	NM_014679.5(CEP57):c.185C>T (p.Pro62Leu)	CEP57 (P53L +2 more)	Single nucleotide variant (missense 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)	Inborn genetic diseases +1 more	GUncertain significance
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 1061100	NM_014679.5(CEP57):c.202+6C>T	CEP57	Single nucleotide variant (intron 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 2850027	NM_014679.5(CEP57):c.202+17A>C	CEP57	Single nucleotide variant (intron variant)	Mosaic variegated aneuploidy syndrome 2	GLikely benign
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 1053863	NM_014679.5(CEP57):c.205A>G (p.Ile69Val)	CEP57 (I42V +2 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
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 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 1010140	NM_014679.5(CEP57):c.217C>T (p.Leu73Phe)	CEP57 (L46F +2 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 862197	NM_014679.5(CEP57):c.226C>G (p.Leu76Val)	CEP57 (L49V +2 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 997616	NM_014679.5(CEP57):c.233A>G (p.Asp78Gly)	CEP57 (D51G +2 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 2 +1 more	GUncertain significance
Select item 30692	NM_014679.5(CEP57):c.241C>T (p.Arg81Ter)	CEP57 (R81* +2 more)	Single nucleotide variant (nonsense)	Mosaic variegated aneuploidy syndrome 2	GPathogenic
Select item 1424876	NM_014679.5(CEP57):c.242G>A (p.Arg81Gln)	CEP57 (R81Q +2 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 855218	NM_014679.5(CEP57):c.244C>T (p.Arg82Cys)	CEP57 (R73C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 947834	NM_014679.5(CEP57):c.245G>A (p.Arg82His)	CEP57 (R55H +2 more)	Single nucleotide variant (missense variant)	Mosaic variegated aneuploidy syndrome 2	GUncertain significance
Select item 1922029	NM_014679.5(CEP57):c.247T>C (p.Leu83=)	CEP57	Single nucleotide variant (synonymous variant)	Mosaic variegated aneuploidy syndrome 2	GLikely benign

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