Full data view for gene ETFB

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

82 entries on 1 page. Showing entries 1 - 82.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. - c.(?_-13592)_(417_?)del VUS r.0? p.0? Unknown g.(51856545_51857476)_(51871484_51880000)del - g.51857476_51871484del - ETFB_000010 - PubMed: Giugliano 2018 - - Germline - - - 0 - DNA arrayCGH - - MYOP Patient XIII PubMed: Giugliano 2018 - F - Italy - - 0 - - 1 Teresa Giugliano
?/. - c.-13392C>T VUS r.(?) p.(=) Unknown g.51871284G>A - CLDND2(NM_152353.2):c.170-4C>T (p.?) - CLDND2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.17_18insCTGTGG likely benign r.(?) p.(Trp6delinsCysCysGly) Unknown g.51857876_51857877insCACAGC - ETFB(NM_001014763.1):c.18_19insCTGTGG (p.(Leu5_Trp6dup)) - ETFB_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.119A>C benign r.(?) p.(Glu40Ala) Unknown g.51857774T>G - ETFB(NM_001014763.1):c.119A>C (p.E40A) - ETFB_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.119A>C likely benign r.(?) p.(Glu40Ala) Unknown g.51857774T>G - ETFB(NM_001014763.1):c.119A>C (p.E40A) - ETFB_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.278C>T VUS r.(?) p.(Pro93Leu) Unknown g.51857615G>A - ETFB(NM_001014763.1):c.278C>T (p.P93L) - ETFB_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.278dup likely benign r.(?) p.(Pro94Thrfs*8) Unknown g.51857619dup - ETFB(NM_001014763.1):c.278dup (p.(Pro94ThrfsTer8)), ETFB(NM_001014763.1):c.278dupC (p.P94Tfs*8) - ETFB_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.278dup benign r.(?) p.(Pro94Thrfs*8) Unknown g.51857619dup - ETFB(NM_001014763.1):c.278dup (p.(Pro94ThrfsTer8)), ETFB(NM_001014763.1):c.278dupC (p.P94Tfs*8) - ETFB_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.551C>T likely benign r.(?) p.(Pro184Leu) Unknown g.51856483G>A - ETFB(NM_001014763.1):c.551C>T (p.P184L) - ETFB_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.734C>T - r.(?) p.(Thr245Met) Both (homozygous) g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - ?, JBS - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Both (homozygous) g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Both (homozygous) g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Both (homozygous) g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Both (homozygous) g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Both (homozygous) g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Both (homozygous) g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Both (homozygous) g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Both (homozygous) g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Both (homozygous) g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - ? - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Both (homozygous) g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Both (homozygous) g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Both (homozygous) g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - ABL - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Both (homozygous) g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Both (homozygous) g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Both (homozygous) g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Both (homozygous) g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Both (homozygous) g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Both (homozygous) g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Both (homozygous) g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Both (homozygous) g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Both (homozygous) g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Both (homozygous) g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Both (homozygous) g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Both (homozygous) g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 JPT/HAN‐HapMap sample F - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Both (homozygous) g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Both (homozygous) g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
-/. - c.734C>T benign r.(?) p.(Thr245Met) Unknown g.51850290G>A - ETFB(NM_001014763.1):c.734C>T (p.T245M) - ETFB_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.979G>A VUS r.(?) p.(Gly327Ser) Unknown g.51848527C>T - ETFB(NM_001014763.1):c.979G>A (p.(Gly327Ser), p.(Gly236Ser)) - ETFB_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.982G>A likely benign r.(?) p.(Val328Ile) Unknown g.51848524C>T - ETFB(NM_001014763.1):c.982G>A (p.V328I) - ETFB_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4607G>T VUS r.(=) p.(=) Unknown g.51843858C>A - VSIG10L(NM_001163922.1):c.1018G>T (p.(Gly340Ter)) - VSIG10L_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*4607G>T likely benign r.(=) p.(=) Unknown g.51843858C>A - VSIG10L(NM_001163922.1):c.1018G>T (p.(Gly340Ter)) - VSIG10L_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend