Unique variants in gene SEC63

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

30 entries on 1 page. Showing entries 1 - 30.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-/. 2 - c.-77C>T r.(?) p.(=) - benign g.108279290G>A g.107958086G>A SEC63(NM_007214.4):c.-77C>T - SEC63_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Rotterdam
+?/. 1 - c.42dup r.(?) p.(Phe15LeufsTer78) - likely pathogenic g.108279173dup g.107957969dup SEC63(NM_007214.4):c.42dupC (p.F15Lfs*78) - SEC63_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.124+22C>T r.(=) p.(=) - benign g.108279068G>A g.107957864G>A SEC63(NM_007214.4):c.124+22C>T - SEC63_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.340-13T>C r.(=) p.(=) - likely benign g.108243126A>G g.107921922A>G - - SEC63_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.340-13_340-12insCCC r.(=) p.(=) - benign g.108243125_108243126insGGG g.107921921_107921922insGGG SEC63(NM_007214.4):c.340-13_340-12insCCC - SEC63_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.340-13_340-12insCCCC r.(=) p.(=) - benign g.108243125_108243126insGGGG g.107921921_107921922insGGGG SEC63(NM_007214.4):c.340-13_340-12insCCCC - SEC63_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.340-12G>T r.(=) p.(=) - benign g.108243125C>A g.107921921C>A - - SEC63_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.340-12_340-11del r.(=) p.(=) - benign g.108243125_108243126del g.107921921_107921922del SEC63(NM_007214.4):c.340-12_340-11delGT - SEC63_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 2 - c.340-12_340-8del r.(=) p.(=) - benign g.108243125_108243129del g.107921921_107921925del SEC63(NM_007214.4):c.340-12_340-8delGTTTT - SEC63_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.340-11T>C r.(=) p.(=) - likely benign g.108243124A>G g.107921920A>G - - SEC63_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.340-9T>C r.(=) p.(=) - benign g.108243122A>G g.107921918A>G SEC63(NM_007214.4):c.340-9T>C - SEC63_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/., -/. 2 - c.340-8T>C r.(=) p.(=) - likely benign, benign g.108243121A>G g.107921917A>G SEC63(NM_007214.4):c.340-8T>C - SEC63_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Groningen
-/. 2 - c.340-7T>C r.(=) p.(=) - benign g.108243120A>G g.107921916A>G SEC63(NM_007214.4):c.340-7T>C - SEC63_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Groningen
-?/. 1 - c.340-7_340-6insTTTTTTCCC r.(=) p.(=) - likely benign g.108243119_108243120insGGGAAAAAA g.107921915_107921916insGGGAAAAAA - - SEC63_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.383C>G r.(?) p.(Ser128Ter) - pathogenic g.108243070G>C g.107921866G>C - - SEC63_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.452+1G>A r.spl? p.? - pathogenic g.108243000C>T g.107921796C>T - - SEC63_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 3 - c.564C>T r.(?) p.(Asn188=) - benign g.108233929G>A g.107912725G>A SEC63(NM_007214.4):c.564C>T (p.N188=) - SEC63_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Rotterdam, VKGL-NL_Groningen
-?/. 1 - c.571C>T r.(?) p.(Leu191=) - likely benign g.108233922G>A g.107912718G>A SEC63(NM_007214.4):c.571C>T (p.L191=) - SEC63_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1106T>G r.(?) p.(Leu369Arg) - VUS g.108224151A>C g.107902947A>C - - SEC63_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1210-6A>T r.(=) p.(=) - likely benign g.108222727T>A g.107901523T>A SEC63(NM_007214.4):c.1210-6A>T - SEC63_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 - c.1249G>T r.(?) p.(Glu417Ter) - pathogenic g.108222682C>A g.107901478C>A - - SEC63_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1253C>G r.(?) p.(Ser418Ter) - pathogenic g.108222678G>C g.107901474G>C - - SEC63_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.1586dup r.(?) p.(Lys530Glufs*30) - likely pathogenic g.108214782dup g.107893578dup - - SEC63_000038 - - - rs777766787 Germline - - - - - Andreas Laner
-?/., -/. 3 - c.1666G>A r.(?) p.(Val556Ile) - likely benign, benign g.108214694C>T g.107893490C>T SEC63(NM_007214.4):c.1666G>A (p.V556I) - SEC63_000005 234 heterozygous; Clinindb (India), 7 homozygous; Clinindb (India), 1 more item Faruq 2020, submtted - rs17854547 Germline, CLASSIFICATION record - 234/2794 individuals, 7/2794 individuals - - - Mohammed Faruq, VKGL-NL_Utrecht
-?/. 1 - c.1703_1705del r.(?) p.(Glu568del) - likely benign g.108204327_108204329del g.107883123_107883125del - - SEC63_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 2 - c.1936-11_1936-9dup r.(=) p.(=) - benign g.108197891_108197893dup g.107876687_107876689dup 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 - - - - - VKGL-NL_Utrecht, VKGL-NL_Rotterdam
-/. 1 - c.1936-10_1936-9dup r.(=) p.(=) - benign g.108197892_108197893dup g.107876688_107876689dup SEC63(NM_007214.4):c.1936-10_1936-9dupTT - SEC63_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1936-8G>T r.(=) p.(=) - benign g.108197874C>A g.107876670C>A SEC63(NM_007214.4):c.1936-8G>T - SEC63_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.1988T>G r.(?) p.(Leu663Ter) - pathogenic g.108197814A>C g.107876610A>C - - SEC63_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/., -/. 3 - c.2027C>T r.(?) p.(Thr676Ile) - likely benign, benign g.108197775G>A g.107876571G>A SEC63(NM_007214.4):c.2027C>T (p.T676I) - SEC63_000001 9 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland Faruq 2020, submtted - rs61733388 Germline, CLASSIFICATION record - 9/2795 individuals - - - Mohammed Faruq, VKGL-NL_Nijmegen, VKGL-NL_Utrecht
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