Unique variants in the NOG gene

Information The variants shown are described using the NM_005450.4 transcript reference sequence.

58 entries on 1 page. Showing entries 1 - 58.
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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     
?/. 1 1 c.-520G>A r.(?) p.(=) - VUS g.54671065G>A g.56593704G>A - - NOG_000001 - PubMed: Moffet 2009 - - Unknown - - - - - LOVD
?/. 1 1 c.-385C>A r.(?) p.(=) - VUS g.54671200C>A g.56593839C>A - - NOG_000002 - - - rs117249328 Unknown - - - - - LOVD
?/. 1 1 c.-73G>A r.(?) p.(=) - VUS g.54671512G>A g.56594151G>A - - NOG_000003 - PubMed: Moffet 2009 - - Unknown - - - - - LOVD
+?/. 1 - c.2T>C r.(?) p.(Met1?) - likely pathogenic g.54671586T>C - - - NOG_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 1 c.19del r.(?) p.(Leu7*) - likely benign g.54671603del g.56594242del - - NOG_000004 - - - rs34711886 Unknown - - - - - LOVD
+/. 1 1 c.58del r.(?) p.(Leu20Cysfs*42) - pathogenic g.54671642del g.56594281del - - NOG_000005 - PubMed: Takahashi 2001 - - Unknown - - - - - LOVD
+/. 1 1 c.103C>G r.(?) p.(Pro35Ala) - pathogenic g.54671687C>G g.56594326C>G - - NOG_000006 - PubMed: Lehmann 2007 - - Unknown - - - - - LOVD
+/. 5 1 c.103C>T r.(?) p.(Pro35Ser) - pathogenic g.54671687C>T g.56594326C>T c.914C>T - NOG_000007 - PubMed: Hirshoren 2008, PubMed: Lehmann 2007, PubMed: Mangino 2002 - - Unknown - - - - - LOVD
+/. 3 1 c.104C>G r.(?) p.(Pro35Arg) - pathogenic g.54671688C>G g.56594327C>G - - NOG_000008 VKGL data sharing initiative Nederland PubMed: Dixon 2001, PubMed: Gong 1999 - - CLASSIFICATION record, Unknown - - - - - VKGL-NL_Nijmegen
+/. 1 1 c.106G>C r.(?) p.(Ala36Pro) - pathogenic g.54671690G>C g.56594329G>C - - NOG_000009 - PubMed: Lehmann 2007 - - Unknown - - - - - LOVD
+/. 1 1 c.110C>G r.(?) p.(Pro37Arg) - pathogenic g.54671694C>G g.56594333C>G - - NOG_000010 - PubMed: Debeer 2004 - - Unknown - - - - - LOVD
+/., +?/. 2 1 c.124C>G r.(?) p.(Pro42Ala) - pathogenic, VUS g.54671708C>G g.56594347C>G [124C>G;149C>G] - NOG_000067 - PubMed: Debeer 2005 - - Unknown - - - - - LOVD
+/. 1 1 c.125C>G r.(?) p.(Pro42Arg) - pathogenic g.54671709C>G g.56594348C>G - - NOG_000011 - PubMed: Oxley 2008 - - Unknown - - - - - LOVD
+/. 1 1 c.129_130dup r.(?) p.(Val44Glyfs*19) - pathogenic g.54671713_54671714dup g.56594352_56594353dup - - NOG_000013 - PubMed: Weekamp 2005 - - Unknown - - - - - LOVD
+/. 2 1 c.142G>A r.(?) p.(Glu48Lys) - pathogenic g.54671726G>A g.56594365G>A - - NOG_000014 - PubMed: Kosaki 2004, PubMed: Lehmann 2007 - - Unknown - - - - - LOVD
+?/. 1 - c.143A>T r.(?) p.(Glu48Val) - likely pathogenic g.54671727A>T - NOG(NM_005450.6):c.143A>T (p.E48V) - NOG_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. 2 - c.149C>G r.(?) p.(Pro50Arg) - VUS g.54671733C>G g.56594372C>G 124C>G;149C>G], [124C>G;149C>G] - NOG_000066 - PubMed: Debeer 2005 - - Unknown - - - - - LOVD
-?/. 1 1 c.178G>A r.(?) p.(Asp60Asn) - likely benign g.54671762G>A g.56594401G>A - - NOG_000015 - - - rs117165670 Unknown - - - - - LOVD
-?/. 1 - c.251C>A r.(?) p.(Pro84His) - likely benign g.54671835C>A g.56594474C>A NOG(NM_005450.4):c.251C>A (p.(Pro84His)) - NOG_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 1 c.252dup r.(?) p.(Glu85Argfs*97) - pathogenic g.54671836dup g.56594475dup - - NOG_000016 - PubMed: Brown 2002 - - Unknown - - - - - LOVD
-?/. 2 - c.275G>A r.(?) p.(Gly92Glu) - likely benign g.54671859G>A g.56594498G>A NOG(NM_005450.4):c.275G>A (p.G92E, p.(Gly92Glu)) - NOG_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
+/. 1 1 c.328C>T r.(?) p.(Gln110*) - pathogenic g.54671912C>T g.56594551C>T - - NOG_000017 - PubMed: Brown 2002 - - Unknown - - - - - LOVD
+/. 1 - c.379G>T r.(?) p.(Glu127Ter) ACMG pathogenic (dominant) g.54671963G>T g.56594602G>T - - NOG_000071 ACMG PVS1, PS2, PM2, PP3 PubMed: Marinakis 2021 - - De novo - - - - - Jan Traeger-Synodinos
+/. 1 1 c.386T>A r.(?) p.(Leu129*) - pathogenic g.54671970T>A g.56594609T>A - - NOG_000018 - PubMed: Takahashi 2001 - - Unknown - - - - - LOVD
+/. 1 - c.391C>T r.(?) p.(Gln131Ter) - pathogenic g.54671975C>T g.56594614C>T - - NOG_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.434T>C r.(?) p.(Leu145Ser) - VUS g.54672018T>C g.56594657T>C - - NOG_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 1 c.448T>G r.(?) p.(Trp150Gly) - likely benign g.54672032T>G g.56594671T>G - - NOG_000019 - - - rs118090182 Unknown - - - - - LOVD
+/. 1 1 c.499C>G r.(?) p.(Arg167Gly) - pathogenic g.54672083C>G g.56594722C>G - - NOG_000020 - PubMed: Lehmann 2007 - - Unknown - - - - - LOVD
+?/. 1 1 c.503T>C r.(503u>c) p.(Phe168Ser) ACMG likely pathogenic g.54672087T>C g.56594726T>C - - NOG_000068 - - - - Germline yes - - - - Yasmina Elaribi
?/. 1 - c.518T>A r.(?) p.(Val173Glu) - VUS g.54672102T>A g.56594741T>A - - NOG_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 1 c.551G>A r.(?) p.(Cys184Tyr) - pathogenic g.54672135G>A g.56594774G>A - - NOG_000021 - PubMed: Takahashi 2001 - - Unknown - - - - - LOVD
+?/. 2 - c.554C>G r.(?) p.(Ser185Cys) - likely pathogenic (dominant) g.54672138C>G g.56594777C>G g.6079C>G - NOG_000065 - Journal: Pan 2020 - - De novo, Germline yes - - - - Zhaoyu Pan
+/. 1 1 c.559C>T r.(?) p.(Pro187Ser) - pathogenic g.54672143C>T g.56594782C>T - - NOG_000022 - PubMed: Lehmann 2007 - - Unknown - - - - - LOVD
-?/. 1 1 c.561C>T r.(?) p.(=) - likely benign g.54672145C>T g.56594784C>T - - NOG_000024 - - - rs116863344 Unknown - - - - - LOVD
+/. 1 1 c.561del r.(?) p.(Glu188Argfs*76) - pathogenic g.54672145del g.56594784del - - NOG_000023 - PubMed: Weekamp 2005 - - Unknown - - - - - LOVD
+/., ?/. 2 1 c.565G>T r.(?) p.(Gly189Cys) - pathogenic, VUS g.54672149G>T g.56594788G>T - - NOG_000025 VKGL data sharing initiative Nederland PubMed: Gong 1999 - - CLASSIFICATION record, Unknown - - - - - VKGL-NL_Nijmegen
+/. 1 1 c.568A>G r.(?) p.(Met190Val) - pathogenic g.54672152A>G g.56594791A>G - - NOG_000026 - PubMed: Oxley 2008 - - Unknown - - - - - LOVD
-?/. 1 1 c.582G>A r.(?) p.(=) - likely benign g.54672166G>A g.56594805G>A - - NOG_000027 - - - rs76347008 Unknown - - - - - LOVD
+/. 1 - c.586A>T r.(?) p.(Lys196Ter) - pathogenic g.54672170A>T g.56594809A>T - - NOG_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 1 c.608T>C r.(?) p.(Leu203Pro) - pathogenic g.54672192T>C g.56594831T>C - - NOG_000028 - PubMed: Weekamp 2005 - - Unknown - - - - - LOVD
+/., ?/. 2 - c.611G>A r.(?) p.(Arg204Gln) - pathogenic, VUS g.54672195G>A g.56594834G>A NOG(NM_005450.4):c.611G>A (p.R204Q) - NOG_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+/. 1 1 c.611G>T r.(?) p.(Arg204Leu) - pathogenic g.54672195G>T g.56594834G>T - - NOG_000029 - PubMed: Dixon 2001 - - Unknown - - - - - LOVD
+/. 1 1 c.614G>A r.(?) p.(Trp205*) - pathogenic g.54672198G>A g.56594837G>A - - NOG_000030 - PubMed: Dawson 2006 - - Unknown - - - - - LOVD
+/. 2 1 c.615G>C r.(?) p.(Trp205Cys) - pathogenic g.54672199G>C g.56594838G>C - - NOG_000031 - PubMed: Emery 2009, PubMed: van den Ende 2005 - - Unknown - - - - - LOVD
+/. 1 1 c.649T>G r.(?) p.(Trp217Gly) - pathogenic g.54672233T>G g.56594872T>G - - NOG_000032 - PubMed: Gong 1999 - - Unknown - - - - - LOVD
+/. 1 1 c.659T>A r.(?) p.(Ile220Asn) - pathogenic g.54672243T>A g.56594882T>A - - NOG_000033 - PubMed: Gong 1999 - - Unknown - - - - - LOVD
+?/. 1 1 c.659_660delinsAT r.(?) p.(Ile220Asn) - VUS g.54672243_54672244delinsAT g.56594882_56594883delinsAT [659_660delinsAT;664T>G] - NOG_000034 - PubMed: Gong 1999 - - Unknown - - - - - LOVD
+?/. 1 - c.664T>G r.(?) p.(Tyr222Asp) - VUS g.54672248T>G g.56594887T>G [659_660delinsAT;664T>G] - NOG_000012 - PubMed: Gong 1999 - - Unknown - - - - - LOVD
+/. 2 1 c.665A>G r.(?) p.(Tyr222Cys) - pathogenic g.54672249A>G g.56594888A>G - - NOG_000035 - PubMed: Dixon 2001, PubMed: Gong 1999 - - Unknown - - - - - LOVD
+/. 1 1 c.668C>T r.(?) p.(Pro223Leu) - pathogenic g.54672252C>T g.56594891C>T - - NOG_000036 - PubMed: Gong 1999 - - Unknown - - - - - LOVD
+/. 2 1 c.696C>G r.(?) p.(Cys232Trp) - pathogenic g.54672280C>G g.56594919C>G - - NOG_000037 - PubMed: Rudnik-Schöneborn 2010 - - Unknown - - - - - LOVD
?/. 1 1 c.*80A>C r.(?) p.(=) - VUS g.54672363A>C g.56595002A>C - - NOG_000038 - - - rs1442829 Unknown - - - - - LOVD
-?/. 1 1 c.*110T>C r.(?) p.(=) - likely benign g.54672393T>C g.56595032T>C - - NOG_000039 - - - rs1236187 Unknown - - - - - LOVD
-?/. 3 1 c.*130_*135del r.(?) p.(=) - likely benign g.54672413_54672418del g.56595052_56595057del - - NOG_000040 - - - rs67555616, rs71671792, rs71888945 Unknown - - - - - LOVD
-?/. 1 1 c.*136_*137del r.(?) p.(=) - likely benign g.54672419_54672420del g.56595058_56595059del - - NOG_000041 - - - rs71139919 Unknown - - - - - LOVD
-?/. 1 1 c.*153A>G r.(?) p.(=) - likely benign g.54672436A>G g.56595075A>G - - NOG_000042 - - - rs74256715 Unknown - - - - - LOVD
-?/. 1 1 c.*303A>C r.(?) p.(=) - likely benign g.54672586A>C g.56595225A>C - - NOG_000043 - - - rs1348322 Unknown - - - - - LOVD
-?/. 1 1 c.*567G>C r.(?) p.(=) - likely benign g.54672850G>C g.56595489G>C - - NOG_000044 - - - rs116716909 Unknown - - - - - LOVD
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