Full data view for gene CCNO

Information The variants shown are described using the NM_021147.3 transcript reference sequence.

41 entries on 1 page. Showing entries 1 - 41.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 1 c.165del r.(?) p.(Gly56Alafs*38) Parent #2 - pathogenic g.54529188del g.55233360del 165delC - CCNO_000004 - - - - Germline - - - - - DNA PCR - - CILD29 - - - - - - - - - - - 1 Heike Olbrich
+/. 1 c.165del r.(?) p.(Gly56Alafs*38) Both (homozygous) - pathogenic g.54529188del g.55233360del 165delC - CCNO_000004 - - - - Unknown - - - - - DNA PCR - - CILD29 - - - - - - - - - - - 1 Heike Olbrich
+/. - c.222del r.(?) p.(Ser75Leufs*19) Unknown - pathogenic g.54529133del - CCNO(NM_021147.5):c.222delC (p.S75Lfs*19) - CCNO_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 248_252dup r.(?) p.(Gly85Cysfs*11) Both (homozygous) - pathogenic g.54529100_54529104dup - 248_252dupTGCCC (Gly85Cysfs*10) - CCNO_000005 {CVvar:139599} Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Wallmeier 2014, Journal: Wallmeier 2014, OMIM:var0001 - rs587777498 Germline yes - - - - DNA SEQ, SEQ-NG-I - - CILD - PubMed: Wallmeier 2014, Journal: Wallmeier 2014 4-generation family, 5 affecteds, unaffected heterozygous carriers F yes Kuwait - - - - - 5 Johan den Dunnen
+/. 1 248_252dup r.(?) p.(Gly85Cysfs*11) Paternal (confirmed) - pathogenic g.54529100_54529104dup - 248_252dupTGCCC (Gly85Cysfs*10) - CCNO_000005 {CVvar:139599} Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Wallmeier 2014, Journal: Wallmeier 2014 - - Germline yes - - - - DNA SEQ - - CILD - PubMed: Wallmeier 2014, Journal: Wallmeier 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - - - - - 1 Johan den Dunnen
+/. 1 248_252dup r.(?) p.(Gly85Cysfs*11) Both (homozygous) - pathogenic g.54529100_54529104dup - 248_252dupTGCCC (Gly85Cysfs*10) - CCNO_000005 {CVvar:139599} Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Wallmeier 2014, Journal: Wallmeier 2014 - rs587777498 Germline yes - - - - DNA SEQ - - CILD - PubMed: Wallmeier 2014, Journal: Wallmeier 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - - - - - 1 Johan den Dunnen
+?/. 1 c.258_262dup r.(?) p.(Gln88Argfs*8) Both (homozygous) - likely pathogenic g.54529099_54529103dup g.55233271_55233275dup - - CCNO_000001 homozygosity mapping 19 regions / 860 candidate genes PubMed: Casey 2014, OMIM:var0001 - - Germline yes - - - - DNA SEQ, SEQ-NG-I - - CILD - PubMed: Casey 2014 4-generation family, 2 affecteds (brothers), unaffected heterozygous carrier parents and 4 relatives M yes Ireland Irish Traveller - - - - 2 Johan den Dunnen
+/. 1 c.258_262dup r.(?) p.(Gln88Argfs*8) Parent #1 - pathogenic g.54529099_54529103dup g.55233271_55233275dup 258_262dupGGCCC - CCNO_000001 - - - - Germline - - - - - DNA PCR - - CILD29 - - - - - - - - - - - 2 Heike Olbrich
+/. 1 c.258_262dup r.(?) p.(Gln88Argfs*8) Both (homozygous) - pathogenic g.54529099_54529103dup g.55233271_55233275dup 258_262dupGGCCC - CCNO_000001 - - - - Germline - - - - - DNA PCR - - CILD29 - - - - - - - - - - - 2 Heike Olbrich
+/. 1 c.258_262dup r.(?) p.(Gln88Argfs*8) Both (homozygous) - pathogenic g.54529099_54529103dup g.55233271_55233275dup 258_262dupGGCCC - CCNO_000001 - - - - Unknown - - - - - DNA PCR - - CILD29 - - - - - - - - - - - 1 Heike Olbrich
+/. 1 c.258_262dup r.(?) p.(Gln88Argfs*8) Parent #2 - pathogenic g.54529099_54529103dup g.55233271_55233275dup 258_262dupGGCCC - CCNO_000001 - - - - Germline yes - - - - DNA PCR - - CILD29 - - - - - - - - - - - 1 Heike Olbrich
+/. 1 c.258_262dup r.(?) p.(Gln88Argfs*8) Parent #1 - pathogenic g.54529099_54529103dup g.55233271_55233275dup 258_262dupGGCCC - CCNO_000001 - - - - Germline - - - - - DNA PCR - - CILD29 - - - - - - - - - - - 1 Heike Olbrich
+/. 1 c.258_262dup r.(?) p.(Gln88Argfs*8) Both (homozygous) - pathogenic g.54529099_54529103dup g.55233271_55233275dup 258_262dupGGCCC - CCNO_000001 - - - - Germline - - - - - DNA PCR - - CILD29 - - - - - - - - - - - 1 Heike Olbrich
+/. 1 c.258_262dup r.(?) p.(Gln88Argfs*8) Both (homozygous) - pathogenic g.54529099_54529103dup g.55233271_55233275dup 258_262dupGGCCC - CCNO_000001 - - - - Germline - - - - - DNA PCR - - CILD29 - - - - - - - - - - - 1 Heike Olbrich
+/. 1 c.258_262dup r.(?) p.(Gln88Argfs*8) Both (homozygous) - pathogenic g.54529099_54529103dup g.55233271_55233275dup 258_262dupGGCCC - CCNO_000001 {CVvar:139600} PubMed: Wallmeier 2014, Journal: Wallmeier 2014 - rs587777499 Germline yes - - - - DNA SEQ - - CILD - PubMed: Wallmeier 2014, Journal: Wallmeier 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M no - - - - - - 1 Johan den Dunnen
+/. 1 c.258_262dup r.(?) p.(Gln88Argfs*8) Both (homozygous) - pathogenic g.54529099_54529103dup g.55233271_55233275dup 258_262dupGGCCC - CCNO_000001 {CVvar:139600} PubMed: Wallmeier 2014, Journal: Wallmeier 2014 - rs587777499 Germline yes - - - - DNA SEQ - - CILD - PubMed: Wallmeier 2014, Journal: Wallmeier 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes - - - - - - 1 Johan den Dunnen
+/. 1 c.258_262dup r.(?) p.(Gln88Argfs*8) Both (homozygous) - pathogenic g.54529099_54529103dup g.55233271_55233275dup 258_262dupGGCCC - CCNO_000001 {CVvar:139600} PubMed: Wallmeier 2014, Journal: Wallmeier 2014 - rs587777499 Germline yes - - - - DNA SEQ - - CILD - PubMed: Wallmeier 2014, Journal: Wallmeier 2014 4-generation family, 3 affecteds (F, 2M), unaffected heterozygous parents - yes - - - - - - 3 Johan den Dunnen
+/. - c.258_262dup r.(?) p.(Gln88ArgfsTer8) Unknown - pathogenic g.54529099_54529103dup g.55233271_55233275dup CCNO(NM_021147.5):c.258_262dupGGCCC (p.Q88Rfs*8) - CCNO_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.258_262dup r.(?) p.(Gln88ArgfsTer8) Unknown - pathogenic g.54529099_54529103dup - CCNO(NM_021147.5):c.258_262dupGGCCC (p.Q88Rfs*8) - CCNO_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.263_267 r.(?) p.(Val90Serfs*6) Both (homozygous) - pathogenic g.54529085_54529089dup - 263_267dupAGCCC - CCNO_000009 {CVvar:1396003} Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Wallmeier 2014, Journal: Wallmeier 2014 - rs587777502 Germline yes - - - - DNA SEQ - - CILD - PubMed: Wallmeier 2014, Journal: Wallmeier 2014 2-generation family, 2 affecteds, unaffected heterozygous carrier parents F yes - - - - - - 2 Johan den Dunnen
+/. - c.263_267dup r.(?) p.(Val90Serfs*6) Unknown - pathogenic g.54529089_54529093dup - CCNO(NM_021147.3):c.263_267dupAGCCC (p.(Val90fs)) - CCNO_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.313T>C r.(?) p.(Cys105Arg) Unknown - likely pathogenic g.54529039A>G - CCNO(NM_021147.5):c.313T>C (p.C105R) - CCNO_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.332del r.(?) p.(Ala111GlyfsTer18) Unknown - pathogenic g.54529020del g.55233192del CCNO(NM_021147.5):c.332delC (p.A111Gfs*18) - CCNO_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.382-19C>G r.(=) p.(=) Unknown - benign g.54528393G>C g.55232565G>C - - CCNO_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.382-14C>G r.(=) p.(=) Unknown - benign g.54528388G>C g.55232560G>C - - CCNO_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.481_482del r.(?) p.(Leu161Glyfs*73) Unknown - pathogenic g.54528276_54528277del g.55232448_55232449del 481_482delCT - CCNO_000002 - - - - Germline - - - - - DNA PCR - - CILD29 - - - - - - - - - - - 2 Heike Olbrich
+/. 2 c.481_482del r.(?) p.(Leu161Glyfs*73) Maternal (confirmed) - pathogenic g.54528276_54528277del g.55232448_55232449del 481_482delCT - CCNO_000002 {CVvar:139611} PubMed: Wallmeier 2014, Journal: Wallmeier 2014 - rs587777503 Germline yes - - - - DNA SEQ - - CILD - PubMed: Wallmeier 2014, Journal: Wallmeier 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - - - - - 1 Johan den Dunnen
+/. 3 c.638T>C r.(?) p.(Leu213Pro) Both (homozygous) - pathogenic g.54527618A>G g.55231790A>G - - CCNO_000003 - - - - Germline - - - - - DNA PCR - - CILD29 - - - - - - - - - - - 2 Heike Olbrich
+/. 3 c.638T>C r.(?) p.(Leu213Pro) Parent #1 - pathogenic g.54527618A>G g.55231790A>G - - CCNO_000003 - - - - Germline - - - - - DNA PCR - - CILD29 - - - - - - - - - - - 1 Heike Olbrich
+/. 3 c.638T>C r.(?) p.(Leu213Pro) Both (homozygous) - pathogenic g.54527618A>G g.55231790A>G - - CCNO_000003 - - - - Germline - - - - - DNA PCR - - CILD29 - - - - - - - - - - - 2 Heike Olbrich
+?/. 3 c.716A>G r.(?) p.(His239Arg) Both (homozygous) - likely pathogenic g.54527540T>C g.55231712T>C - - CCNO_000008 - PubMed: Wallmeier 2014, Journal: Wallmeier 2014 - - Germline yes - - - - DNA SEQ - - CILD - PubMed: Wallmeier 2014, Journal: Wallmeier 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes - - - - - - 1 Johan den Dunnen
-?/. - c.780C>T r.(?) p.(Ala260=) Unknown - likely benign g.54527476G>A - CCNO(NM_021147.4):c.780C>T (p.A260=) - CCNO_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.793dup r.(?) p.(Val265GlyfsTer106) Unknown - pathogenic g.54527468dup g.55231640dup CCNO(NM_021147.5):c.793dupG (p.V265Gfs*106) - CCNO_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.819T>G r.(?) p.(Tyr273*) Unknown - pathogenic g.54527437A>C - - - CCNO_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.926del r.(?) p.(Pro309Argfs*18) Both (homozygous) - pathogenic g.54527332del g.55231504del 926delC - CCNO_000006 {CVvar:1396001} PubMed: Wallmeier 2014, Journal: Wallmeier 2014 - rs587777500 Germline yes - - - - DNA SEQ - - CILD - PubMed: Wallmeier 2014, Journal: Wallmeier 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents/sib F yes - - - - - - 1 Johan den Dunnen
+/. 3 c.961C>T r.(?) p.(Gln321*) Both (homozygous) - pathogenic g.54527295G>A g.55231467G>A - - CCNO_000007 {CVvar:1396002} PubMed: Wallmeier 2014, Journal: Wallmeier 2014 - rs587777501 Germline yes - - - - DNA SEQ - - CILD - PubMed: Wallmeier 2014, Journal: Wallmeier 2014 4-generation family, 1 affecteds, unaffected heterozygous parents M yes - - - - - - 1 Johan den Dunnen
?/. - c.*4274C>A r.(=) p.(=) Unknown - VUS g.54522929G>T - MCIDAS(NM_001190787.1):c.38C>A (p.A13D) - CCNO_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4277T>C r.(=) p.(=) Unknown - VUS g.54522926A>G - MCIDAS(NM_001190787.1):c.41T>C (p.F14S) - CCNO_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4359G>A r.(=) p.(=) Unknown - likely benign g.54522844C>T - MCIDAS(NM_001190787.1):c.120+3G>A - CCNO_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4720T>G r.(=) p.(=) Unknown - VUS g.54522483A>C - MCIDAS(NM_001190787.1):c.230T>G (p.I77R) - CCNO_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4724C>A r.(=) p.(=) Unknown - VUS g.54522479G>T g.55226651G>T - - CCNO_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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