CEP63[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC129937605, LOC129937606 +484 more	Copy number gain	See cases	GUncertain significance
Select item 152454	GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1	A4GNT, ACAD11 +282 more	Copy number loss	See cases	GPathogenic
Select item 147358	GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1	A4GNT, ACAD11 +345 more	Copy number loss	See cases	GPathogenic
Select item 150380	GRCh38/hg38 3q22.1-23(chr3:130401265-139005019)x1	A4GNT, ACAD11 +212 more	Copy number loss	See cases	GPathogenic
Select item 155567	GRCh38/hg38 3q22.1-24(chr3:132716978-144784743)x1	A4GNT, AMOTL2 +301 more	Copy number loss	See cases	GPathogenic
Select item 57831	GRCh38/hg38 3q22.1-22.3(chr3:132972567-136894498)x1	AMOTL2, ANAPC13 +102 more	Copy number loss	See cases	GPathogenic
Select item 149077	GRCh38/hg38 3q22.2-25.1(chr3:134257180-149729538)x1	LOC129937630, LOC129937631 +320 more	Copy number loss	See cases	GPathogenic
Select item 151765	GRCh38/hg38 3q22.2-23(chr3:134333553-141701458)x1	A4GNT, AMOTL2 +167 more	Copy number loss	See cases	GPathogenic
Select item 1260431	NM_001353108.3(CEP63):c.-25-241T>G	CEP63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224910	NM_001353108.3(CEP63):c.-25-157T>C	CEP63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293011	NM_001353108.3(CEP63):c.-25-96T>C	CEP63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 128711	NM_001353108.3(CEP63):c.5A>T (p.Glu2Val)	CEP63 (E2V)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1506610	NM_001353108.3(CEP63):c.23T>C (p.Ile8Thr)	CEP63 (I8T)	Single nucleotide variant (missense variant +3 more)	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 501990	NM_001353108.3(CEP63):c.31C>T (p.Arg11Ter)	CEP63 (R11* +1 more)	Single nucleotide variant (nonsense +3 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 1446950	NM_001353108.3(CEP63):c.38A>G (p.His13Arg)	CEP63 (H13R)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases +1 more	GUncertain significance
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 2071849	NM_001353108.3(CEP63):c.44G>A (p.Gly15Glu)	CEP63 (G15E)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1274368	NM_001353108.3(CEP63):c.45-266G>A	CEP63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253456	NM_001353108.3(CEP63):c.45-236A>G	CEP63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2194538	NM_001353108.3(CEP63):c.56C>T (p.Thr19Ile)	CEP63 (T19I +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1529258	NM_001353108.3(CEP63):c.61T>G (p.Cys21Gly)	CEP63 (C21G +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 128712	NM_001353108.3(CEP63):c.63T>C (p.Cys21=)	CEP63	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign
Select item 712055	NM_001353108.3(CEP63):c.90A>G (p.Lys30=)	CEP63	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 1351640	NM_001353108.3(CEP63):c.122C>G (p.Ser41Cys)	CEP63 (S41C +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 35517	NM_001353108.3(CEP63):c.129G>A (p.Trp43Ter)	CEP63 (W43* +2 more)	Single nucleotide variant (nonsense +2 more)	Seckel syndrome 6	GPathogenic
Select item 2074315	NM_001353108.3(CEP63):c.136C>T (p.Arg46Cys)	CEP63 (R18C +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1905196	NM_001353108.3(CEP63):c.137G>A (p.Arg46His)	CEP63 (R46H +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 755969	NM_001353108.3(CEP63):c.160T>C (p.Leu54=)	CEP63	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1973666	NM_001353108.3(CEP63):c.169C>T (p.Arg57Cys)	CEP63 (R29C +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1924625	NM_001353108.3(CEP63):c.170G>A (p.Arg57His)	CEP63 (R29H +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1943748	NM_001353108.3(CEP63):c.178G>A (p.Glu60Lys)	CEP63 (E69K +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 225312	NM_001353108.3(CEP63):c.182_185dup (p.Lys62delinsAsnTer)	CEP63	Duplication (nonsense +2 more)	Seckel syndrome 6	GLikely pathogenic
Select item 2202380	NM_001353108.3(CEP63):c.193A>G (p.Arg65Gly)	CEP63 (R37G +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 434744	NM_001353108.3(CEP63):c.193A>C (p.Arg65=)	CEP63	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 748025	NM_001353108.3(CEP63):c.195G>A (p.Arg65=)	CEP63	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1510005	NM_001353108.3(CEP63):c.222G>A (p.Glu74=)	CEP63	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 1987434	NM_001353108.3(CEP63):c.222+20C>G	CEP63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1229155	NM_001353108.3(CEP63):c.222+31C>T	CEP63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277079	NM_001353108.3(CEP63):c.223-292G>A	CEP63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2019176	NM_001353108.3(CEP63):c.240del (p.Gln80fs)	CEP63 (Q89fs +2 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 2037036	NM_001353108.3(CEP63):c.267G>A (p.Lys89=)	CEP63	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1949328	NM_001353108.3(CEP63):c.274A>G (p.Met92Val)	CEP63 (M92V +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 210704	NM_001353108.3(CEP63):c.282G>A (p.Met94Ile)	CEP63 (M94I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2092184	NM_001353108.3(CEP63):c.285A>C (p.Glu95Asp)	CEP63 (E104D +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1281948	NM_001353108.3(CEP63):c.318+257A>G	CEP63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292272	NM_001353108.3(CEP63):c.319-238T>G	CEP63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3266232	NM_001353108.3(CEP63):c.323G>A (p.Cys108Tyr)	CEP63 (C108Y +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2001463	NM_001353108.3(CEP63):c.327A>T (p.Ile109=)	CEP63	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2112530	NM_001353108.3(CEP63):c.338G>T (p.Ser113Ile)	CEP63 (S122I +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 765058	NM_001353108.3(CEP63):c.378A>G (p.Arg126=)	CEP63	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1992064	NM_001353108.3(CEP63):c.397A>G (p.Arg133Gly)	CEP63 (R142G +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1620363	NM_001353108.3(CEP63):c.432A>G (p.Ala144=)	CEP63	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2148245	NM_001353108.3(CEP63):c.437T>C (p.Ile146Thr)	CEP63 (I155T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3001629	NM_001353108.3(CEP63):c.441+1G>A	CEP63	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1231861	NM_001353108.3(CEP63):c.442-243G>T	CEP63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2816043	NM_001353108.3(CEP63):c.442-4_442-3del	CEP63	Deletion (intron variant)	not provided	GUncertain significance
Select item 520721	NM_001353108.3(CEP63):c.448del (p.Arg150fs)	CEP63 (R122fs +3 more)	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
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 2894131	NM_001353108.3(CEP63):c.474G>A (p.Lys158=)	CEP63	Single nucleotide variant (synonymous variant +1 more)	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 3266234	NM_001353108.3(CEP63):c.485T>C (p.Ile162Thr)	CEP63 (I41T +3 more)	Single nucleotide variant (missense variant +1 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 1404369	NM_001353108.3(CEP63):c.491A>G (p.Gln164Arg)	CEP63 (Q43R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2190895	NM_001353108.3(CEP63):c.499G>A (p.Val167Ile)	CEP63 (V139I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 2143588	NM_001353108.3(CEP63):c.538C>T (p.Gln180Ter)	CEP63 (Q152* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 128709	NM_001353108.3(CEP63):c.555G>C (p.Gln185His)	CEP63 (Q185H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1654447	NM_001353108.3(CEP63):c.555+4G>A	CEP63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1289195	NM_001353108.3(CEP63):c.555+49A>G	CEP63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253718	NM_001353108.3(CEP63):c.556-210T>C	CEP63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 128710	NM_001353108.3(CEP63):c.567C>A (p.Val189=)	CEP63	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1448706	NM_001353108.3(CEP63):c.569A>G (p.Asn190Ser)	CEP63 (N190S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 434745	NM_001353108.3(CEP63):c.572G>A (p.Arg191Gln)	CEP63 (R191Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1441092	NM_001353108.3(CEP63):c.577C>T (p.Gln193Ter)	CEP63 (Q165* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1120221	NM_001353108.3(CEP63):c.595del (p.Glu199fs)	CEP63 (E171fs +3 more)	Deletion (frameshift variant +1 more)	Seckel syndrome 6	GLikely pathogenic
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 1973555	NM_001353108.3(CEP63):c.631A>G (p.Ser211Gly)	CEP63 (S211G +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1444371	NM_001353108.3(CEP63):c.643C>T (p.Arg215Trp)	CEP63 (R224W +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 434746	NM_001353108.3(CEP63):c.653A>G (p.Asp218Gly)	CEP63 (D218G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	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 751481	NM_001353108.3(CEP63):c.659T>G (p.Ile220Ser)	CEP63 (I220S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 377098	NM_001353108.3(CEP63):c.668A>G (p.Asn223Ser)	CEP63 (N223S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 493374	NM_001353108.3(CEP63):c.685C>T (p.Arg229Cys)	CEP63 (R229C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1355607	NM_001353108.3(CEP63):c.686G>A (p.Arg229His)	CEP63 (R108H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 208419	NM_001353108.3(CEP63):c.686_687delinsTT (p.Arg229Leu)	CEP63 (R229L +3 more)	Indel (missense variant +1 more)	Developmental dyslexia	Gnot provided
Select item 593133	NM_001353108.3(CEP63):c.700G>T (p.Val234Phe)	CEP63 (V234F +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1996889	NM_001353108.3(CEP63):c.756A>G (p.Glu252=)	CEP63	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2073767	NM_001353108.3(CEP63):c.764T>A (p.Leu255Ter)	CEP63 (L255* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
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 434747	NM_001353108.3(CEP63):c.783A>G (p.Leu261=)	CEP63	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign

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