Full data view for gene CNOT1

Information The variants shown are described using the NM_016284.4 transcript reference sequence.

114 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

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     
+/. - c.-333_*1012[0] r.0 p.0 Unknown - pathogenic (dominant) g.(?_55741501)_(62145478_?)del - - 46,XY,del(16)(q12.2q21).arr 16q12.2q21(55,741,501-62,145,478)x1 CNOT1_000014 - PubMed: Vissers 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Individual 39 PubMed: Vissers 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
?/. - c.36A>C r.(?) p.(Gln12His) Unknown - VUS g.58633206T>G - CNOT1(NM_001265612.2):c.36A>C (p.Q12H) - CNOT1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.76C>T r.(?) p.(Arg26*) Unknown - pathogenic (dominant) g.58633166G>A g.58599262G>A - - CNOT1_000035 - PubMed: Vissers 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Individual 1 PubMed: Vissers 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.76C>T r.(?) p.(Arg26*) Unknown - pathogenic (dominant) g.58633166G>A g.58599262G>A - - CNOT1_000035 maternal mosaicism PubMed: Vissers 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Individual 2 PubMed: Vissers 2020 2-generation family, 1 affected, maternal mosaicism M - - - - - - - 1 Johan den Dunnen
+/. - c.76C>T r.(?) p.(Arg26*) Unknown - pathogenic (dominant) g.58633166G>A g.58599262G>A - - CNOT1_000035 - PubMed: Vissers 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Individual 3 PubMed: Vissers 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.76C>T r.(?) p.(Arg26*) Unknown - pathogenic (dominant) g.58633166G>A g.58599262G>A - - CNOT1_000035 - PubMed: Vissers 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Individual 4 PubMed: Vissers 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.76C>T r.(?) p.(Arg26*) Unknown - pathogenic g.58633166G>A - CNOT1(NM_001265612.1):c.76C>T (p.(Arg26*)) - CNOT1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.97C>T r.(?) p.(Gln33*) Unknown - pathogenic (dominant) g.58633145G>A g.58599241G>A - - CNOT1_000034 - PubMed: Vissers 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Individual 5 PubMed: Vissers 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.102+2T>C r.spl p.? Maternal (confirmed) - pathogenic (dominant) g.58633138A>G g.58599234A>G - - CNOT1_000033 - PubMed: Vissers 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Individual 6 (daughter) PubMed: Vissers 2020 2-generation family, affected mother/daugther F - - - - - - - 2 Johan den Dunnen
+/. - c.102+2T>C r.spl p.? Unknown - pathogenic (dominant) g.58633138A>G g.58599234A>G - - CNOT1_000033 - PubMed: Vissers 2020 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES NDD Individual 7 (mother) PubMed: Vissers 2020 mother F - - - - - - - 1 Johan den Dunnen
-?/. - c.102+1747C>G r.(=) p.(=) Unknown - likely benign g.58631393G>C - CNOT1(NM_016284.5):c.102+1747C>G - CNOT1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.112C>T r.(?) p.(Arg38Trp) Unknown - VUS g.58622801G>A - CNOT1(NM_016284.4):c.112C>T (p.(Arg38Trp)) - CNOT1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.210+1G>T r.spl p.? Unknown - pathogenic (dominant) g.58622702C>A g.58588798C>A - - CNOT1_000032 - PubMed: Vissers 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Individual 8 PubMed: Vissers 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
?/. - c.256A>G r.(?) p.(Asn86Asp) Unknown - VUS g.58621737T>C - CNOT1(NM_001265612.2):c.256A>G (p.N86D) - CNOT1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.278A>G r.(?) p.(Tyr93Cys) Unknown - VUS g.58621715T>C - CNOT1(NM_016284.4):c.278A>G (p.(Tyr93Cys)) - CNOT1_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.292C>A r.(?) p.(Pro98Thr) Unknown - VUS g.58621701G>T - - - CNOT1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.378+1G>A r.spl? p.? Unknown - likely pathogenic g.58621248C>T - - - CNOT1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.385T>C r.(?) p.(Phe129Leu) Unknown - VUS g.58621153A>G - CNOT1(NM_016284.5):c.385T>C (p.(Phe129Leu)) - CNOT1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.467T>C r.(?) p.(Leu156Pro) Unknown - VUS g.58620619A>G - CNOT1(NM_016284.5):c.467T>C (p.L156P) - CNOT1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.482T>C r.(?) p.(Ile161Thr) Unknown - VUS g.58620604A>G - CNOT1(NM_016284.4):c.482T>C (p.(Ile161Thr)) - CNOT1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.487G>A r.(?) p.(Ala163Thr) Unknown - likely benign g.58620599C>T - CNOT1(NM_016284.4):c.487G>A (p.(Ala163Thr)) - CNOT1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.532A>G r.(?) p.(Ile178Val) Unknown - likely benign g.58620554T>C - CNOT1(NM_016284.5):c.532A>G (p.(Ile178Val)) - CNOT1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.560A>G r.(?) p.(His187Arg) Unknown - likely benign g.58620526T>C - CNOT1(NM_016284.4):c.560A>G (p.(His187Arg)) - CNOT1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.608_611del r.(?) p.(Ile203Thrfs*32) Unknown - pathogenic (dominant) g.58620478_58620481del g.58586574_58586577del 608_611delTAGA - CNOT1_000031 - PubMed: Vissers 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Individual 9 PubMed: Vissers 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
-?/. - c.637+69T>C r.(=) p.(=) Unknown - likely benign g.58620380A>G - CNOT1(NM_016284.5):c.637+69T>C - CNOT1_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.953G>T r.(?) p.(Ser318Ile) Unknown - likely benign g.58616788C>A - CNOT1(NM_016284.5):c.953G>T (p.(Ser318Ile)) - CNOT1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1105C>T r.(?) p.(Arg369Cys) Unknown - likely benign g.58615359G>A - CNOT1(NM_001265612.1):c.1105C>T (p.(Arg369Cys)) - CNOT1_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1188T>A r.(?) p.(Tyr396*) Unknown - pathogenic (dominant) g.58615276A>T g.58581372A>T - - CNOT1_000030 - PubMed: Vissers 2020 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES NDD Individual 10 PubMed: Vissers 2020 2-generation family, 1 affected, adopted F - - - - - - - 1 Johan den Dunnen
?/. - c.1285del r.(?) p.(Val429Leufs*6) Unknown - VUS g.58614595del - CNOT1(NM_016284.5):c.1285delG (p.V429Lfs*6) - CNOT1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1525A>G r.(?) p.(Ile509Val) Unknown - VUS g.58612662T>C - CNOT1(NM_001265612.2):c.1525A>G (p.I509V) - CNOT1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1584+7T>A r.(=) p.(=) Unknown - likely benign g.58612596A>T - CNOT1(NM_016284.5):c.1584+7T>A - CNOT1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1603C>T r.(?) p.(Arg535Cys) Unknown - likely pathogenic g.58610468G>A g.58576564G>A CNOT1(NM_016284.5):c.1603C>T (p.R535C) - CNOT1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1603C>T r.(?) p.(Arg535Cys) Unknown - pathogenic (dominant) g.58610468G>A g.58576564G>A - - CNOT1_000009 - PubMed: Kruszka 2019, PubMed: Vissers 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat1;Individual 20 PubMed: Kruszka 2019, PubMed: Vissers 2020 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - 1 Johan den Dunnen
+/. - c.1603C>T r.(?) p.(Arg535Cys) Unknown - pathogenic (dominant) g.58610468G>A g.58576564G>A - - CNOT1_000009 - PubMed: Kruszka 2019, PubMed: Vissers 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat2;Individual 21 PubMed: Kruszka 2019, PubMed: Vissers 2020 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - 1 Johan den Dunnen
+/. - c.1603C>T r.(?) p.(Arg535Cys) Unknown - pathogenic (dominant) g.58610468G>A g.58576564G>A - - CNOT1_000009 - PubMed: De Franko 2019, PubMed: Vissers 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat3;Individual 22 PubMed: De Franko 2019, PubMed: Vissers 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.1603C>T r.(?) p.(Arg535Cys) Unknown - pathogenic (dominant) g.58610468G>A g.58576564G>A - - CNOT1_000009 - PubMed: De Franko 2019, PubMed: Vissers 2020 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES NDD Pat1;Individual 23 PubMed: De Franko 2019, PubMed: Vissers 2020 2-generation family, 1 affected F - - - - - - - 1 Johan den Dunnen
+/. - c.1603C>T r.(?) p.(Arg535Cys) Unknown - pathogenic (dominant) g.58610468G>A g.58576564G>A - - CNOT1_000009 - PubMed: De Franko 2019, PubMed: Vissers 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat2;Individual 24 PubMed: De Franko 2019, PubMed: Vissers 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - - 00y00m87d - - - 1 Johan den Dunnen
+/. - c.1603C>T r.(?) p.(Arg535Cys) Unknown ACMG pathogenic (dominant) g.58610468G>A - - - CNOT1_000009 ACMG: PS2_VSTR, PS3_MOD, PM2_SUP, recurrent de novo variant PMID:31006513; PMID:31006510; PMID: 32553196 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - HPE 181708 - prenatal analysis of fet 1 of 2. ? - Germany - - - - - 1 Andreas Laner
+/. - c.1603C>T r.(?) p.(Arg535Cys) Unknown - pathogenic g.58610468G>A - CNOT1(NM_016284.5):c.1603C>T (p.R535C) - CNOT1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1643G>A r.(?) p.(Arg548Lys) Unknown - VUS g.58610428C>T - CNOT1(NM_016284.5):c.1643G>A (p.(Arg548Lys)) - CNOT1_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1771C>T r.(?) p.(Arg591Cys) Unknown - VUS g.58608967G>A - CNOT1(NM_001265612.1):c.1771C>T (p.(Arg591Cys)) - CNOT1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1787A>G r.(?) p.(Lys596Arg) Unknown - VUS g.58608951T>C - CNOT1(NM_001265612.2):c.1787A>G (p.K596R) - CNOT1_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1924C>G r.(?) p.(Gln642Glu) Unknown - pathogenic (dominant) g.58608568G>C g.58574664G>C - - CNOT1_000010 carries de novo variants in ATP6V0C, XPO7 and ETNK1 PubMed: Vissers 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Individual 25 PubMed: Vissers 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
?/. - c.1951A>G r.(?) p.(Met651Val) Unknown - VUS g.58608541T>C - CNOT1(NM_016284.4):c.1951A>G (p.(Met651Val)) - CNOT1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 16i_21i c.(1979+1_1980-63)_(2891+21_2891-1)del r.? p.? Unknown - pathogenic (dominant) g.(58587765_58589134)_(58594329_58608512)del - del ex17-21 16q21(58589134_58594329)x1 CNOT1_000013 - PubMed: Vissers 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Individual 38 PubMed: Vissers 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
?/. - c.2255A>T r.(?) p.(Lys752Ile) Unknown - VUS g.58592454T>A - CNOT1(NM_016284.4):c.2255A>T (p.(Lys752Ile)) - CNOT1_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2320T>A r.(?) p.(Ser774Thr) Unknown - VUS g.58592389A>T - CNOT1(NM_016284.5):c.2320T>A (p.(Ser774Thr)) - CNOT1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2413G>A r.(?) p.(Val805Ile) Unknown - VUS g.58590817C>T - - - CNOT1_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2480-5A>G r.spl? p.? Unknown - likely benign g.58589817T>C - CNOT1(NM_001265612.2):c.2465-5A>G - CNOT1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2481G>A r.(?) p.(=) Unknown - likely benign g.58589811C>T - CNOT1(NM_016284.5):c.2481G>A (p.(Ser827=)) - CNOT1_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2620C>T r.(?) p.(Gln874*) Unknown - pathogenic g.58589426G>A - CNOT1(NM_001265612.2):c.2605C>T (p.Q869*) - CNOT1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2689G>A r.(?) p.(Glu897Lys) Unknown - pathogenic (dominant) g.58589357C>T g.58555453C>T - - CNOT1_000029 - PubMed: Vissers 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Individual 26 PubMed: Vissers 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.2698C>T r.(?) p.(Arg900Cys) Unknown - pathogenic (dominant) g.58589348G>A g.58555444G>A - - CNOT1_000028 - PubMed: Vissers 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Individual 27 PubMed: Vissers 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
-?/. - c.2891+445G>A r.(=) p.(=) Unknown - likely benign g.58588710C>T - CNOT1(NM_016284.5):c.2891+445G>A - CNOT1_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2891+493C>T r.(=) p.(=) Unknown - VUS g.58588662G>A - CNOT1(NM_016284.5):c.2891+493C>T - CNOT1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3065_3076dup r.(?) p.(Ala1022_Gln1025dup) Unknown - likely benign g.58585632_58585643dup - CNOT1(NM_016284.5):c.3065_3076dup (p.(Ala1022_Gln1025dup)) - CNOT1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3113C>T r.(?) p.(Thr1038Ile) Unknown - VUS g.58585581G>A g.58551677G>A - - CNOT1_000012 - PubMed: Vissers 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Individual 28 PubMed: Vissers 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
?/. - c.3152C>T r.(?) p.(Thr1051Met) Unknown - VUS g.58585542G>A - CNOT1(NM_001265612.2):c.3137C>T (p.T1046M) - CNOT1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3202-3dup r.spl? p.? Unknown - likely benign g.58585190dup - CNOT1(NM_016284.5):c.3202-3dup - CNOT1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3265G>C r.(?) p.(Val1089Leu) Unknown - VUS g.58585113C>G g.58551209C>G - - CNOT1_000011 - PubMed: Vissers 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Individual 28 PubMed: Vissers 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
?/. - c.3362C>T r.(?) p.(Thr1121Met) Unknown - VUS g.58583783G>A - CNOT1(NM_001265612.2):c.3347C>T (p.T1116M) - CNOT1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3363_3364insTAAGGTAAGCTAAA r.(?) p.(Val1122*) Unknown - pathogenic (dominant) g.58583781_58583782insTTTAGCTTACCTTA g.58549877_58549878insTTTAGCTTACCTTA - - CNOT1_000027 - PubMed: Vissers 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Individual 11 PubMed: Vissers 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - - 1d - - - 1 Johan den Dunnen
+?/. - c.3443T>C r.(?) p.(Leu1148Pro) Unknown - likely pathogenic g.58583702A>G g.58549798A>G - - CNOT1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3443T>C r.(?) p.(Leu1148Pro) Unknown - pathogenic (dominant) g.58583702A>G g.58549798A>G - - CNOT1_000008 - PubMed: Vissers 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Individual 29 PubMed: Vissers 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.3563A>G r.(?) p.(Asp1188Gly) Unknown - pathogenic (dominant) g.58581546T>C g.58547642T>C - - CNOT1_000026 - PubMed: Vissers 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Individual 30 PubMed: Vissers 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
-?/. - c.3625C>A r.(?) p.(Pro1209Thr) Unknown - likely benign g.58581484G>T - CNOT1(NM_016284.5):c.3625C>A (p.(Pro1209Thr)) - CNOT1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3634C>G r.(?) p.(His1212Asp) Unknown - VUS g.58581475G>C - - - CNOT1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3681_3687del r.(?) p.(Lys1227Asnfs*7) Unknown - pathogenic (dominant) g.58581155_58581161del g.58547251_58547257del - - CNOT1_000025 - PubMed: Vissers 2020 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES NDD Individual 12 PubMed: Vissers 2020 2-generation family, 1 affected F - - - - - - - 1 Johan den Dunnen
+/. - c.3722A>G r.(?) p.(Lys1241Arg) Unknown - pathogenic (dominant) g.58581118T>C g.58547214T>C - - CNOT1_000024 - PubMed: Vissers 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Individual 31 PubMed: Vissers 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.3750+1G>T r.spl p.? Unknown - pathogenic (dominant) g.58581089C>A g.58547185C>A - - CNOT1_000023 - PubMed: Vissers 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Individual 13 PubMed: Vissers 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.3750+5G>A r.spl? p.? Unknown - pathogenic (dominant) g.58581085C>T g.58547181C>T - - CNOT1_000005 - PubMed: Vissers 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Individual 14 PubMed: Vissers 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. I27 c.3750+5G>A r.spl? p.? Unknown ACMG likely pathogenic (dominant) g.58581085C>T - - - CNOT1_000005 ACMG: PS2, PS4_MOD, PM2_SUP, PP3 PMID: 32553196 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - VIBOS 188611 - - M no Germany - - - - - 1 Andreas Laner
-?/. - c.4021C>T r.(?) p.(Pro1341Ser) Unknown - likely benign g.58579381G>A - CNOT1(NM_016284.4):c.4021C>T (p.(Pro1341Ser)) - CNOT1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4138-2A>C r.spl p.? Unknown - pathogenic (dominant) g.58577809T>G g.58543905T>G - - CNOT1_000022 - PubMed: Vissers 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Individual 15 PubMed: Vissers 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.4255A>G r.(?) p.(Thr1419Ala) Unknown - pathogenic (dominant) g.58577690T>C g.58543786T>C - - CNOT1_000021 - PubMed: Vissers 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Individual 32 PubMed: Vissers 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
?/. - c.4283T>C r.(?) p.(Phe1428Ser) Unknown - VUS g.58577662A>G g.58543758A>G CNOT1(NM_001265612.1):c.4268T>C (p.(Phe1423Ser)) - CNOT1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4283T>C r.(?) p.(Phe1428Ser) Unknown - pathogenic (dominant) g.58577662A>G g.58543758A>G - - CNOT1_000004 - PubMed: Vissers 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Individual 33 PubMed: Vissers 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
?/. - c.4336C>T r.(?) p.(Arg1446Cys) Unknown - VUS g.58577609G>A - CNOT1(NM_016284.5):c.4336C>T (p.(Arg1446Cys)) - CNOT1_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4399A>G r.(?) p.(Thr1467Ala) Unknown - VUS g.58577546T>C - CNOT1(NM_016284.5):c.4399A>G (p.(Thr1467Ala)) - CNOT1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4432C>T r.(?) p.(Arg1478Cys) Unknown - pathogenic (dominant) g.58577513G>A g.58543609G>A - - CNOT1_000020 - PubMed: Vissers 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Individual 34 PubMed: Vissers 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
-?/. - c.4434+44G>C r.(=) p.(=) Unknown - likely benign g.58577467C>G - CNOT1(NM_206999.2):c.4478G>C (p.(Cys1493Ser)) - CNOT1_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4434+70_4434+73del r.(=) p.(=) Unknown - likely benign g.58577439_58577442del - CNOT1(NM_206999.3):c.4504_4507del (p.(Val1502Ilefs*18)) - CNOT1_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4434+182del r.(=) p.(=) Unknown - likely benign g.58577329del - CNOT1(NM_206999.3):c.4616del (p.(Cys1539PhefsTer16)) - CNOT1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4434+194_4434+195del r.(=) p.(=) Unknown - likely benign g.58577327_58577328del - CNOT1(NM_206999.3):c.4628_4629delTT (p.F1543Sfs*22) - CNOT1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4434+195del r.(=) p.(=) Unknown - benign g.58577328del g.58543424del CNOT1(NM_206999.2):c.4629delT (p.L1544Cfs*11) - CNOT1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4434+195dup r.(=) p.(=) Unknown - benign g.58577328dup - CNOT1(NM_206999.2):c.4629dupT (p.L1544Sfs*22) - CNOT1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4482A>T r.(?) p.(Gln1494His) Unknown - pathogenic (dominant) g.58576425T>A g.58542521T>A - - CNOT1_000019 parents unavailable PubMed: Vissers 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Individual 35 PubMed: Vissers 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.4714T>G r.(?) p.(Tyr1572Asp) Unknown - pathogenic (dominant) g.58575491A>C g.58541587A>C - - CNOT1_000018 parents unavailable PubMed: Vissers 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Individual 36 PubMed: Vissers 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
-?/. - c.4733A>G r.(?) p.(Asn1578Ser) Unknown - likely benign g.58575472T>C - CNOT1(NM_001265612.2):c.4718A>G (p.N1573S), CNOT1(NM_016284.5):c.4733A>G (p.(Asn1578Ser)) - CNOT1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4733A>G r.(?) p.(Asn1578Ser) Unknown - likely benign g.58575472T>C - CNOT1(NM_001265612.2):c.4718A>G (p.N1573S), CNOT1(NM_016284.5):c.4733A>G (p.(Asn1578Ser)) - CNOT1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4800G>C r.(?) p.(Lys1600Asn) Unknown - pathogenic (dominant) g.58575405C>G g.58541501C>G - - CNOT1_000017 - PubMed: Vissers 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Individual 16 PubMed: Vissers 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.4800+1G>A r.spl p.? Unknown ACMG pathogenic g.58575404C>T g.58541500C>T - - CNOT1_000101 - - ClinVar-4075809 - De novo - - - - - DNA SEQ-NG-I peripheral blood WES NDD - - - F - - (not applicable) white - - - - 1 Marketa Wayhelova
?/. - c.4876A>G r.(?) p.(Ile1626Val) Unknown - VUS g.58573788T>C - 4861A>G (Ile1621Val) - CNOT1_000044 - PubMed: Latypova 2021, Journal: Latypova 2021 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WES NDD Pat9 PubMed: Latypova 2021, Journal: Latypova 2021 2-generation family, 1 affected, unaffected parents M - - - - - - - 1 Johan den Dunnen
-?/. - c.5107T>G r.(?) p.(Ser1703Ala) Unknown - likely benign g.58572704A>C - CNOT1(NM_016284.5):c.5107T>G (p.(Ser1703Ala)) - CNOT1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5201A>G r.(?) p.(Asn1734Ser) Unknown - VUS g.58572105T>C - CNOT1(NM_016284.4):c.5201A>G (p.(Asn1734Ser)) - CNOT1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5331T>G r.(?) p.(=) Unknown - likely benign g.58571878A>C - CNOT1(NM_001265612.1):c.5316T>G (p.(Asp1772Glu)) - CNOT1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5468G>A r.(?) p.(Arg1823His) Unknown - VUS g.58571071C>T - CNOT1(NM_016284.5):c.5468G>A (p.R1823H) - CNOT1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.5536C>G r.(?) p.(Pro1846Ala) Unknown - likely pathogenic g.58571003G>C - - - CNOT1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 39 c.5608C>T r.(?) p.(Arg1870Cys) Unknown ACMG VUS g.58570931G>A g.58537027G>A - - CNOT1_000100 - Verebi et al. (submitted) - - De novo - - - - - DNA SEQ-NG-I - WGS VIBOS - Verebi et al. (submitted) - F - France - - - - - 1 Camille Verebi
?/. - c.6095C>G r.(?) p.(Pro2032Arg) Unknown - VUS g.58565944G>C - - - CNOT1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query   « First ‹ Prev     1 2     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.