All variants in the CEP57 gene

Information The variants shown are described using the NM_014679.4 transcript reference sequence.

34 entries on 1 page. Showing entries 1 - 34.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. - c.-4483C>T r.(?) p.(=) - likely benign g.95519380C>T g.95786216C>T FAM76B(NM_144664.4):c.266G>A (p.(Arg89His)) - FAM76B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.25G>A r.(?) p.(Ala9Thr) - likely benign g.95523887G>A g.95790723G>A CEP57(NM_014679.3):c.25G>A (p.A9T) - CEP57_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.46-3721C>T r.(=) p.(=) - likely benign g.95528675C>T g.95795511C>T CEP57(NM_001243776.1):c.-26-5C>T (p.(=)) - CEP57_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.46-3718A>T r.(=) p.(=) - likely benign g.95528678A>T g.95795514A>T CEP57(NM_001243776.1):c.-26-2A>T (p.(=)) - CEP57_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.46-3718_46-3717del r.(=) p.(=) - likely benign g.95528678_95528679del g.95795514_95795515del CEP57(NM_001243776.1):c.-26-2_-26-1del (p.(=)) - CEP57_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.46-3717G>T r.(=) p.(=) - likely benign g.95528679G>T g.95795515G>T CEP57(NM_001243776.1):c.-26-1G>T (p.(=)) - CEP57_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.46-3690A>G r.(=) p.(=) - VUS g.95528706A>G g.95795542A>G CEP57(NM_001243776.1):c.1A>G (p.M1?) - CEP57_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.89G>A r.(?) p.(Arg30Gln) - VUS g.95532439G>A g.95799275G>A - - CEP57_000026 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs577173144 Germline - 1/2795 individuals - 0 - Mohammed Faruq
?/. - c.95C>T r.(?) p.(Ser32Phe) - VUS g.95532445C>T g.95799281C>T CEP57(NM_014679.3):c.95C>T (p.S32F) - CEP57_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 3 c.241C>T r.(?) p.(Arg81*) - pathogenic (recessive) g.95546134C>T g.95812970C>T - - CEP57_000003 - PubMed: Snape 2011, PubMed: Newman 2003, PubMed: Hanks2004 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.333G>C r.(?) p.(Gln111His) - likely benign g.95546226G>C g.95813062G>C CEP57(NM_001243776.1):c.306G>C (p.(Gln102His)) - CEP57_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.422A>G r.(?) p.(Asn141Ser) - likely benign g.95546671A>G g.95813507A>G CEP57(NM_014679.3):c.422A>G (p.N141S) - CEP57_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.490G>A r.(?) p.(Val164Ile) - likely benign g.95546739G>A g.95813575G>A CEP57(NM_001243776.1):c.463G>A (p.(Val155Ile)) - CEP57_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.501A>G r.(?) p.(Lys167=) - likely benign g.95546750A>G g.95813586A>G CEP57(NM_014679.3):c.501A>G (p.K167=) - CEP57_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 5 c.520_521del r.(?) p.(Glu174Thrfs*4) - pathogenic (recessive) g.95550966_95550967del g.95817802_95817803del 520_521delGA - CEP57_000001 - PubMed: Garcia-Castillo 2008, PubMed: Snape 2011 - - Germline yes - - 0 - Johan den Dunnen
+?/. 5 c.520_521del r.(?) p.(Glu174Thrfs*4) - pathogenic (recessive) g.95550966_95550967del g.95817802_95817803del 520_521delGA - CEP57_000001 - PubMed: Snape 2011 - - Germline yes - - 0 - Johan den Dunnen
?/. - c.677G>A r.(?) p.(Arg226His) - VUS g.95552046G>A g.95818882G>A CEP57(NM_014679.3):c.677G>A (p.R226H) - CEP57_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.692C>T r.(?) p.(Ala231Val) - VUS g.95552061C>T g.95818897C>T - - CEP57_000023 - PubMed: Kasak 2009 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.807+3G>A r.spl? p.? - likely benign g.95555145G>A g.95821981G>A CEP57(NM_014679.3):c.807+3G>A - CEP57_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 9 c.915_925dup r.(?) p.(Leu309Profs*9) - pathogenic (recessive) g.95560979_95560989dup g.95827815_95827825dup 915_925dup11 - CEP57_000002 - PubMed: Garcia-Castillo 2008, PubMed: Snape 2011 - - Germline yes - - 0 - Johan den Dunnen
+?/. 9 c.915_925dup r.(?) p.(Leu309Profs*9) - pathogenic (recessive) g.95560979_95560989dup g.95827815_95827825dup 915_925dup11 - CEP57_000002 - PubMed: Snape 2011 - - Germline yes - - 0 - Johan den Dunnen
+?/. 9 c.915_925dup r.(?) p.(Leu309Profs*9) - pathogenic (recessive) g.95560979_95560989dup g.95827815_95827825dup 915_925dup11 - CEP57_000002 - PubMed: Snape 2011, PubMed: Lane 2002 - - Germline - - - 0 - Johan den Dunnen
-/. - c.1342A>G r.(?) p.(Arg448Gly) - benign g.95564259A>G g.95831095A>G CEP57(NM_001243776.1):c.1315A>G (p.R439G) - CEP57_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1368del r.(?) p.(Thr457GlnfsTer10) - VUS g.95564285del g.95831121del CEP57(NM_001243776.1):c.1341delC (p.(Thr448GlnfsTer10)) - CEP57_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.*4069C>T r.(=) p.(=) - likely benign g.95568489C>T g.95835325C>T MTMR2(NM_001243571.1):c.1681G>A (p.A561T) - CEP57_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*4104C>T r.(=) p.(=) - VUS g.95568524C>T g.95835360C>T MTMR2(NM_001243571.2):c.1646G>A (p.R549Q) - MTMR2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.*4111A>G r.(=) p.(=) - likely benign g.95568531A>G g.95835367A>G MTMR2(NM_001243571.2):c.1639T>C (p.S547P) - CEP57_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.*4115C>G r.(=) p.(=) - VUS g.95568535C>G g.95835371C>G MTMR2(NM_001243571.2):c.1635G>C (p.E545D) - CEP57_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.*4161G>C r.(=) p.(=) - pathogenic g.95568581G>C g.95835417G>C MTMR2(NM_001243571.2):c.1589C>G (p.A530G) - MTMR2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.*4873_*4878del r.(=) p.(=) - likely benign g.95569293_95569298del g.95836129_95836134del MTMR2(NM_001243571.2):c.1554+14_1554+19delAATATA - CEP57_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.*4880_*4885del r.(=) p.(=) - likely benign g.95569300_95569305del g.95836136_95836141del MTMR2(NM_001243571.2):c.1554+7_1554+12delGCCTTA - CEP57_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.*4906G>T r.(=) p.(=) - benign g.95569326G>T g.95836162G>T MTMR2(NM_001243571.2):c.1540C>A (p.R514=) - MTMR2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. - c.*4913C>T r.(=) p.(=) - pathogenic g.95569333C>T g.95836169C>T MTMR2(NM_001243571.2):c.1533G>A (p.W511*) - MTMR2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. - c.*5028T>C r.(=) p.(=) - pathogenic g.95569448T>C g.95836284T>C MTMR2(NM_001243571.2):c.1418A>G (p.N473S) - MTMR2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
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