Full data view for gene SEC63

Information The variants shown are described using the NM_007214.4 transcript reference sequence.

35 entries on 1 page. Showing entries 1 - 35.
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.-77C>T benign r.(?) p.(=) Unknown g.108279290G>A - SEC63(NM_007214.4):c.-77C>T - SEC63_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-77C>T benign r.(?) p.(=) Unknown g.108279290G>A - SEC63(NM_007214.4):c.-77C>T - SEC63_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.42dup likely pathogenic r.(?) p.(Phe15Leufs*78) Unknown g.108279173dup - SEC63(NM_007214.4):c.42dupC (p.F15Lfs*78) - SEC63_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.124+22C>T benign r.(=) p.(=) Unknown g.108279068G>A - SEC63(NM_007214.4):c.124+22C>T - SEC63_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.340-13T>C likely benign r.(=) p.(=) Unknown g.108243126A>G - - - SEC63_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.340-13_340-12insCCC benign r.(=) p.(=) Unknown g.108243125_108243126insGGG - SEC63(NM_007214.4):c.340-13_340-12insCCC - SEC63_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.340-13_340-12insCCCC benign r.(=) p.(=) Unknown g.108243125_108243126insGGGG - SEC63(NM_007214.4):c.340-13_340-12insCCCC - SEC63_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.340-12G>T benign r.(=) p.(=) Unknown g.108243125C>A - - - SEC63_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.340-12_340-11del benign r.(=) p.(=) Unknown g.108243125_108243126del - SEC63(NM_007214.4):c.340-12_340-11delGT - SEC63_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.340-12_340-8del benign r.(=) p.(=) Unknown g.108243125_108243129del - SEC63(NM_007214.4):c.340-12_340-8delGTTTT - SEC63_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.340-12_340-8del benign r.(=) p.(=) Unknown g.108243125_108243129del - SEC63(NM_007214.4):c.340-12_340-8delGTTTT - SEC63_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.340-11T>C likely benign r.(=) p.(=) Unknown g.108243124A>G - - - SEC63_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.340-9T>C benign r.(=) p.(=) Unknown g.108243122A>G - SEC63(NM_007214.4):c.340-9T>C - SEC63_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.340-8T>C likely benign r.(=) p.(=) Unknown g.108243121A>G - SEC63(NM_007214.4):c.340-8T>C - SEC63_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.340-8T>C benign r.(=) p.(=) Unknown g.108243121A>G - SEC63(NM_007214.4):c.340-8T>C - SEC63_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.340-7T>C benign r.(=) p.(=) Unknown g.108243120A>G - SEC63(NM_007214.4):c.340-7T>C - SEC63_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.340-7T>C benign r.(=) p.(=) Unknown g.108243120A>G - SEC63(NM_007214.4):c.340-7T>C - SEC63_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.340-7_340-6insTTTTTTCCC likely benign r.(=) p.(=) Unknown g.108243119_108243120insGGGAAAAAA - - - SEC63_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.383C>G pathogenic r.(?) p.(Ser128*) Unknown g.108243070G>C - - - SEC63_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.452+1G>A pathogenic r.spl? p.? Unknown g.108243000C>T - - - SEC63_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.564C>T benign r.(?) p.(=) Unknown g.108233929G>A - SEC63(NM_007214.4):c.564C>T (p.N188=) - SEC63_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.564C>T benign r.(?) p.(=) Unknown g.108233929G>A - SEC63(NM_007214.4):c.564C>T (p.N188=) - SEC63_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.564C>T benign r.(?) p.(=) Unknown g.108233929G>A - SEC63(NM_007214.4):c.564C>T (p.N188=) - SEC63_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.571C>T likely benign r.(?) p.(=) Unknown g.108233922G>A - SEC63(NM_007214.4):c.571C>T (p.L191=) - SEC63_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1106T>G VUS r.(?) p.(Leu369Arg) Unknown g.108224151A>C - - - SEC63_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1210-6A>T likely benign r.(=) p.(=) Unknown g.108222727T>A - SEC63(NM_007214.4):c.1210-6A>T - SEC63_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1253C>G pathogenic r.(?) p.(Ser418*) Unknown g.108222678G>C - - - SEC63_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1666G>A benign r.(?) p.(Val556Ile) Unknown g.108214694C>T - SEC63(NM_007214.4):c.1666G>A (p.V556I) - SEC63_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1936-11_1936-9dup benign r.(=) p.(=) Unknown g.108197891_108197893dup - SEC63(NM_007214.4):c.1936-11_1936-9dupTTT, SEC63(NM_007214.4):c.1936-12_1936-10dupTTT - SEC63_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1936-11_1936-9dup benign r.(=) p.(=) Unknown g.108197891_108197893dup - SEC63(NM_007214.4):c.1936-11_1936-9dupTTT, SEC63(NM_007214.4):c.1936-12_1936-10dupTTT - SEC63_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1936-10_1936-9dup benign r.(=) p.(=) Unknown g.108197892_108197893dup - SEC63(NM_007214.4):c.1936-10_1936-9dupTT - SEC63_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1936-8G>T benign r.(=) p.(=) Unknown g.108197874C>A - SEC63(NM_007214.4):c.1936-8G>T - SEC63_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1988T>G pathogenic r.(?) p.(Leu663*) Unknown g.108197814A>C - - - SEC63_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2027C>T benign r.(?) p.(Thr676Ile) Unknown g.108197775G>A - SEC63(NM_007214.4):c.2027C>T (p.T676I) - SEC63_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2027C>T benign r.(?) p.(Thr676Ile) Unknown g.108197775G>A - SEC63(NM_007214.4):c.2027C>T (p.T676I) - SEC63_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend