Full data view for gene TBCE

Information The variants shown are described using the NM_003193.3 transcript reference sequence.

152 entries on 2 pages. Showing entries 1 - 100.
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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     
?/. - c.1A>G r.(?) p.(Met1?) Unknown - VUS g.235543365A>G - TBCE(NM_003193.5):c.1A>G (p.M1?) - TBCE_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.7del r.(?) p.(Asp3ThrfsTer3) Unknown - VUS g.235543371del g.235380056del TBCE(NM_001079515.1):c.7delG (p.(Asp3ThrfsTer3)) - TBCE_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.100+1G>A r.spl? p.? Unknown - likely pathogenic g.235543465G>A - TBCE(NM_001079515.1):c.100+1G>A (p.?) - TBCE_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.100+13del r.(=) p.(=) Unknown - likely benign g.235543477del g.235380162del TBCE(NM_001287801.2):c.100+13delT - TBCE_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.100+13T>G r.(=) p.(=) Unknown - likely benign g.235543477T>G g.235380162T>G TBCE(NM_001079515.2):c.100+13T>G - TBCE_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.100+15del r.(=) p.(=) Unknown - likely benign g.235543479del g.235380164del TBCE(NM_001287801.2):c.100+15delT - TBCE_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.100+15_100+17del r.(=) p.(=) Unknown - likely benign g.235543479_235543481del - TBCE(NM_001287801.2):c.100+15_100+17delTGT - TBCE_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.100+40_100+65del r.(=) p.(=) Unknown - benign g.235543504_235543529del - TBCE(NM_001287801.2):c.100+40_100+65delGTGTGTGTGTGTGTGTGTGTGTGTGT - TBCE_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.100+42_100+65del r.(=) p.(=) Unknown - benign g.235543506_235543529del g.235380191_235380214del TBCE(NM_001287801.2):c.100+42_100+65delGTGTGTGTGTGTGTGTGTGTGTGT - TBCE_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.100+44_100+65del r.(=) p.(=) Unknown - benign g.235543508_235543529del g.235380193_235380214del TBCE(NM_001079515.2):c.100+44_100+65delGTGTGTGTGTGTGTGTGTGTGT, TBCE(NM_001287801.2):c.100+44_100+65delGTGTGTGTGTGTGTGTGTGTGT - TBCE_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.100+44_100+65del r.(=) p.(=) Unknown - benign g.235543508_235543529del g.235380193_235380214del TBCE(NM_001079515.2):c.100+44_100+65delGTGTGTGTGTGTGTGTGTGTGT, TBCE(NM_001287801.2):c.100+44_100+65delGTGTGTGTGTGTGTGTGTGTGT - TBCE_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.100+44_100+65del r.(=) p.(=) Unknown - benign g.235543508_235543529del - TBCE(NM_001079515.2):c.100+44_100+65delGTGTGTGTGTGTGTGTGTGTGT, TBCE(NM_001287801.2):c.100+44_100+65delGTGTGTGTGTGTGTGTGTGTGT - TBCE_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.100+46_100+65del r.(=) p.(=) Unknown - benign g.235543510_235543529del g.235380195_235380214del TBCE(NM_001287801.2):c.100+46_100+65delGTGTGTGTGTGTGTGTGTGT - TBCE_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.100+48_100+65del r.(=) p.(=) Unknown - benign g.235543512_235543529del g.235380197_235380214del TBCE(NM_001079515.2):c.100+48_100+65delGTGTGTGTGTGTGTGTGT, TBCE(NM_001287801.2):c.100+48_100+65delGTGTGTGTGTGTGTGTGT - TBCE_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.100+48_100+65del r.(=) p.(=) Unknown - likely benign g.235543512_235543529del g.235380197_235380214del TBCE(NM_001079515.2):c.100+48_100+65delGTGTGTGTGTGTGTGTGT, TBCE(NM_001287801.2):c.100+48_100+65delGTGTGTGTGTGTGTGTGT - TBCE_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.100+48_100+65del r.(=) p.(=) Unknown - benign g.235543512_235543529del g.235380197_235380214del TBCE(NM_001079515.2):c.100+48_100+65delGTGTGTGTGTGTGTGTGT, TBCE(NM_001287801.2):c.100+48_100+65delGTGTGTGTGTGTGTGTGT - TBCE_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.100+50_100+65del r.(=) p.(=) Unknown - likely benign g.235543514_235543529del g.235380199_235380214del TBCE(NM_001079515.2):c.100+50_100+65delGTGTGTGTGTGTGTGT, TBCE(NM_001079515.3):c.100+50_100+65delGTGTGTGTGTGTGTGT, TBCE(NM_001287801.2):c.100+50_100... - TBCE_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.100+50_100+65del r.(=) p.(=) Unknown - likely benign g.235543514_235543529del g.235380199_235380214del TBCE(NM_001079515.2):c.100+50_100+65delGTGTGTGTGTGTGTGT, TBCE(NM_001079515.3):c.100+50_100+65delGTGTGTGTGTGTGTGT, TBCE(NM_001287801.2):c.100+50_100... - TBCE_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.100+50_100+65del r.(=) p.(=) Unknown - benign g.235543514_235543529del g.235380199_235380214del TBCE(NM_001079515.2):c.100+50_100+65delGTGTGTGTGTGTGTGT, TBCE(NM_001079515.3):c.100+50_100+65delGTGTGTGTGTGTGTGT, TBCE(NM_001287801.2):c.100+50_100... - TBCE_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.100+52_100+65del r.(=) p.(=) Unknown - benign g.235543516_235543529del g.235380201_235380214del TBCE(NM_001079515.2):c.100+52_100+65delGTGTGTGTGTGTGT, TBCE(NM_001287801.2):c.100+52_100+65delGTGTGTGTGTGTGT - TBCE_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.100+52_100+65del r.(=) p.(=) Unknown - likely benign g.235543516_235543529del g.235380201_235380214del TBCE(NM_001079515.2):c.100+52_100+65delGTGTGTGTGTGTGT, TBCE(NM_001287801.2):c.100+52_100+65delGTGTGTGTGTGTGT - TBCE_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.100+52_100+65del r.(=) p.(=) Unknown - likely benign g.235543516_235543529del g.235380201_235380214del TBCE(NM_001079515.2):c.100+52_100+65delGTGTGTGTGTGTGT, TBCE(NM_001287801.2):c.100+52_100+65delGTGTGTGTGTGTGT - TBCE_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.100+54_100+65del r.(=) p.(=) Unknown - likely benign g.235543518_235543529del g.235380203_235380214del TBCE(NM_001287801.2):c.100+54_100+65delGTGTGTGTGTGT, TBCE(NM_003193.5):c.100+54_100+65delGTGTGTGTGTGT - TBCE_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.100+54_100+65del r.(=) p.(=) Unknown - likely benign g.235543518_235543529del - TBCE(NM_001287801.2):c.100+54_100+65delGTGTGTGTGTGT, TBCE(NM_003193.5):c.100+54_100+65delGTGTGTGTGTGT - TBCE_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.100+56_100+65del r.(=) p.(=) Unknown - benign g.235543520_235543529del g.235380205_235380214del TBCE(NM_001287801.2):c.100+56_100+65delGTGTGTGTGT - TBCE_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.100+58_100+65del r.(=) p.(=) Unknown - benign g.235543522_235543529del g.235380207_235380214del TBCE(NM_001287801.2):c.100+58_100+65delGTGTGTGT - TBCE_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.100+60_100+65del r.(=) p.(=) Unknown - benign g.235543524_235543529del g.235380209_235380214del TBCE(NM_001287801.2):c.100+60_100+65delGTGTGT - TBCE_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.100+62_100+65del r.(=) p.(=) Unknown - benign g.235543526_235543529del g.235380211_235380214del TBCE(NM_001287801.2):c.100+62_100+65delGTGT - TBCE_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.100+64_100+65del r.(=) p.(=) Unknown - benign g.235543528_235543529del g.235380213_235380214del TBCE(NM_001079515.2):c.100+64_100+65delGT, TBCE(NM_001287801.2):c.100+64_100+65delGT - TBCE_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.100+64_100+65del r.(=) p.(=) Unknown - benign g.235543528_235543529del g.235380213_235380214del TBCE(NM_001079515.2):c.100+64_100+65delGT, TBCE(NM_001287801.2):c.100+64_100+65delGT - TBCE_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.100+64_100+65dup r.(=) p.(=) Unknown - benign g.235543528_235543529dup g.235380213_235380214dup TBCE(NM_001287801.2):c.100+63_100+64dupTG - TBCE_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.101-5G>A r.spl? p.? Unknown - likely benign g.235564813G>A g.235401498G>A TBCE(NM_001079515.2):c.101-5G>A, TBCE(NM_001287801.2):c.101-5G>A - TBCE_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.101-5G>A r.spl? p.? Unknown - benign g.235564813G>A - TBCE(NM_001079515.2):c.101-5G>A, TBCE(NM_001287801.2):c.101-5G>A - TBCE_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.101-1G>C r.spl? p.? Unknown - pathogenic g.235564817G>C g.235401502G>C TBCE(NM_003193.5):c.101-1G>C - TBCE_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.101-1G>C r.spl? p.? Unknown - pathogenic g.235564817G>C - TBCE(NM_003193.5):c.101-1G>C - TBCE_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.101G>C r.(?) p.(Gly34Ala) Parent #1 ACMG likely pathogenic (recessive) g.235564818G>C g.235401503G>C - - TBCE_000077 - PubMed: Helbig 2016 - - Germline - - - - - DNA SEQ-NG - WES seizures Pat83 PubMed: Helbig 2016 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.155_166del r.(?) p.(Ser52_Gly55del) Both (homozygous) - pathogenic (recessive) g.235564872_235564883del g.235401557_235401568del NM_003193.3:c.155_166del12:p.(Ser52_Gly55del) - TBCE_000085 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 11DG1646 PubMed: Maddirevula 2018 family F yes - Arab - - - - 1 LOVD
+/. - c.155_166del r.(?) p.(Ser52_Gly55del) Both (homozygous) - pathogenic (recessive) g.235564872_235564883del g.235401557_235401568del NM_003193.3:c.155_166del12:p.(Ser52_Gly55del) - TBCE_000085 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 10DG0037 PubMed: Maddirevula 2018 family F yes - Arab - - - - 1 LOVD
+/. - c.155_166del r.(?) p.(Ser52_Gly55del) Both (homozygous) - pathogenic (recessive) g.235564872_235564883del g.235401557_235401568del NM_003193.3:c.155_166del12:p.(Ser52_Gly55del) - TBCE_000085 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 12DG1361 PubMed: Maddirevula 2018 family F yes - Arab - - - - 1 LOVD
+/. - c.171_172del r.(?) p.(Tyr58Phefs*2) Unknown - pathogenic g.235564888_235564889del - TBCE(NM_003193.5):c.171_172delGT (p.Y58Ffs*2) - TBCE_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.191C>T r.(?) p.(Pro64Leu) Unknown - likely benign g.235577753C>T g.235414438C>T TBCE(NM_001079515.2):c.191C>T (p.P64L) - TBCE_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.194C>A r.(?) p.(Thr65Lys) Unknown - likely benign g.235577756C>A g.235414441C>A TBCE(NM_001079515.2):c.194C>A (p.T65K) - TBCE_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.214C>T r.(?) p.(Pro72Ser) Unknown - likely benign g.235577776C>T g.235414461C>T TBCE(NM_001079515.1):c.214C>T (p.(Pro72Ser)), TBCE(NM_001079515.2):c.214C>T (p.P72S), TBCE(NM_001287801.2):c.214C>T (p.P72S) - TBCE_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.214C>T r.(?) p.(Pro72Ser) Unknown - likely benign g.235577776C>T g.235414461C>T TBCE(NM_001079515.1):c.214C>T (p.(Pro72Ser)), TBCE(NM_001079515.2):c.214C>T (p.P72S), TBCE(NM_001287801.2):c.214C>T (p.P72S) - TBCE_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.214C>T r.(?) p.(Pro72Ser) Unknown - likely benign g.235577776C>T g.235414461C>T TBCE(NM_001079515.1):c.214C>T (p.(Pro72Ser)), TBCE(NM_001079515.2):c.214C>T (p.P72S), TBCE(NM_001287801.2):c.214C>T (p.P72S) - TBCE_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.214C>T r.(?) p.(Pro72Ser) Parent #1 - VUS g.235577776C>T g.235414461C>T - - TBCE_000011 conflicting interpretations of pathogenicity; 14 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs62620041 Germline - 14/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 14 Mohammed Faruq
-?/. - c.214C>T r.(?) p.(Pro72Ser) Unknown - likely benign g.235577776C>T - TBCE(NM_001079515.1):c.214C>T (p.(Pro72Ser)), TBCE(NM_001079515.2):c.214C>T (p.P72S), TBCE(NM_001287801.2):c.214C>T (p.P72S) - TBCE_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.250G>A r.(?) p.(Ala84Thr) Unknown - VUS g.235577812G>A - TBCE(NM_003193.5):c.250G>A (p.(Ala84Thr)) - TBCE_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.253A>G r.(?) p.(Ile85Val) Unknown - likely benign g.235577815A>G - TBCE(NM_001079515.1):c.253A>G (p.(Ile85Val)) - TBCE_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.332_337del r.(?) p.(Val111_Thr113delinsAla) Unknown - VUS g.235577894_235577899del g.235414579_235414584del TBCE(NM_001287801.2):c.332_337delTGGAGA (p.V111_T113delinsA) - TBCE_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.359_361del r.(?) p.(Met120del) Unknown - VUS g.235577921_235577923del - TBCE(NM_003193.5):c.359_361del (p.(Met120del)) - TBCE_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.371+2_371+8dup r.spl? p.? Unknown - VUS g.235577935_235577941dup g.235414620_235414626dup TBCE(NM_003193.5):c.371_372insGTAAGTG (p.S124Rfs*2) - TBCE_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.372-2A>T r.spl? p.? Unknown - likely pathogenic g.235582786A>T - TBCE(NM_003193.5):c.372-2A>T - TBCE_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.394G>A r.(?) p.(Val132Ile) Unknown - VUS g.235582810G>A g.235419495G>A TBCE(NM_001287801.2):c.394G>A (p.V132I) - TBCE_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.464T>A r.(?) p.(Ile155Asn) Maternal (confirmed) - pathogenic (recessive) g.235590458T>A g.235427143T>A - - TBCE_000079 - - - - Germline yes - - - - DNA SEQ-NG - - PEAMO - - - - - - - - - - - 1 Chiara Aiello
-/. - c.560+5G>A r.spl? p.? Unknown - benign g.235590559G>A g.235427244G>A TBCE(NM_001287801.2):c.560+5G>A - TBCE_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.560+265A>G r.(=) p.(=) Unknown - benign g.235590819A>G g.235427504A>G TBCE(NM_001079515.2):c.560+265A>G - TBCE_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.569A>C r.(?) p.(Lys190Thr) Unknown - VUS g.235594028A>C g.235430713A>C TBCE(NM_001079515.2):c.569A>C (p.K190T), TBCE(NM_001287801.2):c.569A>C (p.K190T) - TBCE_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.569A>C r.(?) p.(Lys190Thr) Unknown - VUS g.235594028A>C - TBCE(NM_001079515.2):c.569A>C (p.K190T), TBCE(NM_001287801.2):c.569A>C (p.K190T) - TBCE_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.585C>T r.(?) p.(Ser195=) Unknown - likely benign g.235594044C>T g.235430729C>T TBCE(NM_001287801.2):c.585C>T (p.S195=) - TBCE_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.613G>T r.(?) p.(Val205Leu) Unknown - likely benign g.235594072G>T - TBCE(NM_003193.5):c.613G>T (p.V205L) - TBCE_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.614T>C r.(?) p.(Val205Ala) Unknown - benign g.235594073T>C g.235430758T>C TBCE(NM_001079515.1):c.614T>C (p.(Val205Ala)), TBCE(NM_001079515.2):c.614T>C (p.V205A), TBCE(NM_001287801.2):c.614T>C (p.V205A) - TBCE_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.614T>C r.(?) p.(Val205Ala) Unknown - benign g.235594073T>C g.235430758T>C TBCE(NM_001079515.1):c.614T>C (p.(Val205Ala)), TBCE(NM_001079515.2):c.614T>C (p.V205A), TBCE(NM_001287801.2):c.614T>C (p.V205A) - TBCE_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.614T>C r.(?) p.(Val205Ala) Unknown - likely benign g.235594073T>C - TBCE(NM_001079515.1):c.614T>C (p.(Val205Ala)), TBCE(NM_001079515.2):c.614T>C (p.V205A), TBCE(NM_001287801.2):c.614T>C (p.V205A) - TBCE_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.630C>T r.(?) p.(Val210=) Unknown - likely benign g.235594089C>T - TBCE(NM_003193.5):c.630C>T (p.V210=) - TBCE_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.661-1263del r.(=) p.(=) Unknown - benign g.235596256del g.235432941del TBCE(NM_001287801.2):c.661-5delA - TBCE_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.661-1263dup r.(=) p.(=) Unknown - benign g.235596256dup g.235432941dup TBCE(NM_001287801.2):c.661-5dupA - TBCE_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.661-1222G>A r.(=) p.(=) Unknown - likely benign g.235596297G>A - TBCE(NM_001287801.1):c.697G>A (p.D233N) - TBCE_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.661-1196C>T r.(=) p.(=) Unknown - benign g.235596323C>T g.235433008C>T TBCE(NM_001079515.2):c.661-1196C>T, TBCE(NM_001287801.2):c.723C>T (p.F241=) - TBCE_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.661-1196C>T r.(=) p.(=) Unknown - benign g.235596323C>T g.235433008C>T TBCE(NM_001079515.2):c.661-1196C>T, TBCE(NM_001287801.2):c.723C>T (p.F241=) - TBCE_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.661-1123C>T r.(=) p.(=) Unknown - likely benign g.235596396C>T - TBCE(NM_001287801.2):c.796C>T (p.R266W) - TBCE_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.661-1092C>T r.(=) p.(=) Unknown - likely benign g.235596427C>T - TBCE(NM_001287801.2):c.813+14C>T - TBCE_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.661-136_661-135insTA r.(=) p.(=) Unknown - benign g.235597383_235597384insTA g.235434068_235434069insTA TBCE(NM_001079515.2):c.661-137_661-136insAT - TBCE_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.661-119G>A r.(=) p.(=) Unknown - benign g.235597400G>A g.235434085G>A TBCE(NM_001079515.2):c.661-119G>A - TBCE_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.667C>T r.(?) p.(Arg223Trp) Unknown - likely benign g.235597525C>T g.235434210C>T TBCE(NM_001079515.1):c.667C>T (p.(Arg223Trp)), TBCE(NM_001079515.2):c.667C>T (p.R223W) - TBCE_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.667C>T r.(?) p.(Arg223Trp) Unknown - likely benign g.235597525C>T - TBCE(NM_001079515.1):c.667C>T (p.(Arg223Trp)), TBCE(NM_001079515.2):c.667C>T (p.R223W) - TBCE_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.737+11C>T r.(=) p.(=) Unknown - likely benign g.235597606C>T g.235434291C>T TBCE(NM_001079515.2):c.737+11C>T - TBCE_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.738-173G>A r.(=) p.(=) Unknown - benign g.235598887G>A g.235435572G>A TBCE(NM_001079515.2):c.738-173G>A - TBCE_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.915G>C r.(?) p.(Met305Ile) Unknown - VUS g.235599875G>C - TBCE(NM_001287801.2):c.1068G>C (p.M356I) - TBCE_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.917T>C r.(?) p.(Phe306Ser) Unknown - VUS g.235599877T>C g.235436562T>C TBCE(NM_001079515.1):c.917T>C (p.(Phe306Ser)), TBCE(NM_001287801.2):c.1070T>C (p.F357S) - TBCE_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.917T>C r.(?) p.(Phe306Ser) Unknown - VUS g.235599877T>C - TBCE(NM_001079515.1):c.917T>C (p.(Phe306Ser)), TBCE(NM_001287801.2):c.1070T>C (p.F357S) - TBCE_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.924del r.(?) p.(Leu309*) Paternal (confirmed) - pathogenic (recessive) g.235599884del g.235436569del - - TBCE_000080 - - - - Germline - - - - - DNA SEQ-NG - - PEAMO - - - - - - - - - - - 1 Chiara Aiello
?/. - c.945C>T r.(?) p.(Asn315=) Unknown - VUS g.235599905C>T - TBCE(NM_001287801.2):c.1098C>T (p.N366=) - TBCE_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.963+126A>C r.(=) p.(=) Unknown - benign g.235600049A>C g.235436734A>C TBCE(NM_001079515.2):c.963+126A>C - TBCE_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.964-47G>A r.(=) p.(=) Unknown - benign g.235600590G>A g.235437275G>A TBCE(NM_001079515.2):c.964-47G>A - TBCE_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.990G>T r.(?) p.(Lys330Asn) Unknown - likely benign g.235600663G>T g.235437348G>T TBCE(NM_001079515.1):c.990G>T (p.(Lys330Asn)) - TBCE_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.998G>C r.(?) p.(Ser333Thr) Unknown - benign g.235600671G>C g.235437356G>C TBCE(NM_001079515.1):c.998G>C (p.(Ser333Thr)), TBCE(NM_001079515.2):c.998G>C (p.S333T), TBCE(NM_001287801.2):c.1151G>C (p.S384T) - TBCE_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.998G>C r.(?) p.(Ser333Thr) Unknown - likely benign g.235600671G>C - TBCE(NM_001079515.1):c.998G>C (p.(Ser333Thr)), TBCE(NM_001079515.2):c.998G>C (p.S333T), TBCE(NM_001287801.2):c.1151G>C (p.S384T) - TBCE_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.998G>C r.(?) p.(Ser333Thr) Unknown - benign g.235600671G>C - TBCE(NM_001079515.1):c.998G>C (p.(Ser333Thr)), TBCE(NM_001079515.2):c.998G>C (p.S333T), TBCE(NM_001287801.2):c.1151G>C (p.S384T) - TBCE_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1036A>G r.(?) p.(Lys346Glu) Unknown - VUS g.235600709A>G - TBCE(NM_001287801.2):c.1189A>G (p.K397E) - TBCE_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1059G>A r.(?) p.(=) Unknown - likely benign g.235600732G>A - TBCE(NM_001287801.2):c.1212G>A (p.T404=) - TBCE_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1068A>G r.(?) p.(Leu356=) Unknown - benign g.235600741A>G g.235437426A>G TBCE(NM_001079515.2):c.1068A>G (p.L356=), TBCE(NM_001287801.2):c.1221A>G (p.L407=) - TBCE_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1068A>G r.(?) p.(Leu356=) Unknown - benign g.235600741A>G g.235437426A>G TBCE(NM_001079515.2):c.1068A>G (p.L356=), TBCE(NM_001287801.2):c.1221A>G (p.L407=) - TBCE_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1078G>A r.(?) p.(Ala360Thr) Unknown - VUS g.235600751G>A - TBCE(NM_001079515.1):c.1078G>A (p.(Ala360Thr)) - TBCE_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1100C>T r.(?) p.(Thr367Met) Unknown - likely benign g.235600773C>T g.235437458C>T TBCE(NM_001079515.1):c.1100C>T (p.(Thr367Met)) - TBCE_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1100C>T r.(?) p.(Thr367Met) Unknown - likely benign g.235600773C>T - TBCE(NM_001079515.1):c.1100C>T (p.(Thr367Met)) - TBCE_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1101G>A r.(?) p.(Thr367=) Unknown - likely benign g.235600774G>A - TBCE(NM_001287801.2):c.1254G>A (p.T418=) - TBCE_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1116+24A>C r.(=) p.(=) Unknown - benign g.235600813A>C g.235437498A>C TBCE(NM_001079515.2):c.1116+24A>C - TBCE_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1116+122C>G r.(=) p.(=) Unknown - benign g.235600911C>G g.235437596C>G TBCE(NM_001079515.2):c.1116+122C>G - TBCE_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1148T>C r.(?) p.(Leu383Pro) Unknown - VUS g.235602115T>C - TBCE(NM_003193.5):c.1148T>C (p.L383P) - TBCE_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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