All variants in the GFER gene

Information The variants shown are described using the NM_005262.2 transcript reference sequence.

35 entries on 1 page. Showing entries 1 - 35.
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Effect     

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     
?/. - c.-4908A>C r.(?) p.(=) - VUS g.2029312A>C g.1979311A>C NOXO1(NM_001267721.1):c.869T>G (p.(Leu290Arg)) - NOXO1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-4907G>C r.(?) p.(=) - VUS g.2029313G>C g.1979312G>C NOXO1(NM_001267721.1):c.868C>G (p.(Leu290Val)) - NOXO1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.23G>C r.(?) p.(Gly8Ala) - likely benign g.2034242G>C - GFER(NM_005262.2):c.23G>C (p.G8A) - GFER_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.103C>T r.(?) p.(Arg35Trp) - VUS g.2034322C>T - GFER(NM_005262.2):c.103C>T (p.R35W) - GFER_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.109_121del r.(?) p.(Arg37Glyfs*109) - VUS g.2034328_2034340del - GFER(NM_005262.2):c.109_121delCGGGGCGCGGGGC (p.R37Gfs*109) - GFER_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.189G>C r.(?) p.(Glu63Asp) - likely benign g.2034408G>C g.1984407G>C GFER(NM_005262.2):c.189G>C (p.E63D) - GFER_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 c.217del r.(?) p.(Ala73Profs*77) - pathogenic g.2034436del g.1984435del 217delG - GFER_000003 - - - - Germline yes - - - - Sophie Nambot
+/. 1 c.219del r.(?) p.(Cys74Alafs*76) - pathogenic g.2034438del g.1984437del - - GFER_000001 - - - - Germline yes - - - - Sophie Nambot
+/. - c.219del r.(?) p.(Cys74AlafsTer76) - likely pathogenic (recessive) g.2034438del g.1984437del c.219delC - GFER_000001 - PubMed: Thevenon 2016, PubMed: Nambot 2018 - - Germline - - - - - Johan den Dunnen
+/. - c.258+1G>A r.spl? p.? - pathogenic g.2034478G>A - GFER(NM_005262.2):c.258+1G>A - GFER_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.259-28C>G r.(=) p.(=) - VUS g.2034720C>G - - - GFER_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 c.259-25_259-24del r.(?) p.(=) - pathogenic g.2034723_2034724del g.1984722_1984723del ENST00000567719.1:c.9_10del (Ser3fs) - GFER_000002 - - - - Germline yes - - - - Sophie Nambot
+/. - c.259-25_259-24del r.spl p.? - likely pathogenic (recessive) g.2034723_2034724del g.1984722_1984723del 259-26_259-25delCA - GFER_000002 - PubMed: Thevenon 2016, PubMed: Nambot 2018 - - Germline - - - - - Johan den Dunnen
-?/. - c.269A>G r.(?) p.(Lys90Arg) - likely benign g.2034758A>G g.1984757A>G GFER(NM_005262.2):c.269A>G (p.K90R) - GFER_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.277G>T r.(?) p.(Glu93Ter) - pathogenic g.2034766G>T g.1984765G>T GFER(NM_005262.2):c.277G>T (p.E93*) - GFER_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 c.373C>T r.(?) p.(Gln125*) - pathogenic g.2034862C>T g.1984861C>T - - GFER_000005 - PubMed: Calderwood 2016, Journal: Calderwood 2016 - - Germline - - - - - Jamie Zeegers
?/. - c.387G>A r.(?) p.(Met129Ile) - VUS g.2034876G>A - GFER(NM_005262.2):c.387G>A (p.(Met129Ile)) - GFER_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.414G>C r.(?) p.(Lys138Asn) - VUS g.2034903G>C - GFER(NM_005262.2):c.414G>C (p.(Lys138Asn)) - GFER_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.457C>T r.(?) p.(Leu153=) - likely benign g.2035868C>T g.1985867C>T - - GFER_000020 - PubMed: Li 2019 - rs1046502 Germline - - - - - Johan den Dunnen
-?/. - c.457C>T r.(?) p.(Leu153=) - likely benign g.2035868C>T g.1985867C>T - - GFER_000020 - PubMed: Li 2019 - rs1046502 Germline - - - - - Johan den Dunnen
-?/. - c.457C>T r.(?) p.(Leu153=) - likely benign g.2035868C>T g.1985867C>T - - GFER_000020 - PubMed: Li 2019 - rs1046502 Germline - - - - - Johan den Dunnen
+?/. - c.580C>T r.(?) p.(Arg194Cys) - likely pathogenic g.2035991C>T g.1985990C>T GFER(NM_005262.3):c.580C>T (p.R194C) - GFER_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.580C>T r.(?) p.(Arg194Cys) - VUS g.2035991C>T - GFER(NM_005262.3):c.580C>T (p.R194C) - GFER_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 3 c.581G>A r.(?) p.(Arg194His) - pathogenic g.2035992G>A g.1985991G>A - - GFER_000004 - - - - Germline yes - - - - Sophie Nambot
+/. 3 c.581G>A r.(?) p.(Arg194His) - pathogenic g.2035992G>A g.1985991G>A - - GFER_000004 - PubMed: Di Fonzo 2009, Journal: Di Fonzo 2009, {OMIM:600924:0001} - - Germline yes - - - - Jamie Zeegers
+/. 3 c.581G>A r.(?) p.(Arg194His) - pathogenic g.2035992G>A g.1985991G>A - - GFER_000004 - PubMed: Di Fonzo 2009, Journal: Di Fonzo 2009, {OMIM:600924:0001} - - Germline yes - - - - Jamie Zeegers
+/. 3 c.581G>A r.(?) p.(Arg194His) - pathogenic g.2035992G>A g.1985991G>A - - GFER_000004 not in 1126 control chromosomes PubMed: Di Fonzo 2009, Journal: Di Fonzo 2009, {OMIM:600924:0001} - rs121908192 Germline yes - - - - Jamie Zeegers
+?/. 3 c.581G>A r.(?) p.(Arg194His) - likely pathogenic g.2035992G>A g.1985991G>A - - GFER_000004 - PubMed: Calderwood 2016, Journal: Calderwood 2016 - - Germline - - - - - Jamie Zeegers
?/. - c.589G>A r.(?) p.(Asp197Asn) - VUS g.2036000G>A - GFER(NM_005262.2):c.589G>A (p.D197N) - GFER_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.591C>G r.(?) p.(Asp197Glu) - VUS g.2036002C>G g.1986001C>G GFER(NM_005262.2):c.591C>G (p.D197E), GFER(NM_005262.3):c.591C>G (p.(Asp197Glu)) - GFER_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.591C>G r.(?) p.(Asp197Glu) - VUS g.2036002C>G - GFER(NM_005262.2):c.591C>G (p.D197E), GFER(NM_005262.3):c.591C>G (p.(Asp197Glu)) - GFER_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.601G>A r.(?) p.(Asp201Asn) - VUS g.2036012G>A g.1986011G>A GFER(NM_005262.2):c.601G>A (p.D201N), GFER(NM_005262.3):c.601G>A (p.(Asp201Asn)) - GFER_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.601G>A r.(?) p.(Asp201Asn) - VUS g.2036012G>A - GFER(NM_005262.2):c.601G>A (p.D201N), GFER(NM_005262.3):c.601G>A (p.(Asp201Asn)) - GFER_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.*6191G>A r.(=) p.(=) - likely benign g.2042220G>A - SYNGR3(NM_004209.5):c.337+8G>A (p.?) - GFER_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.*6698G>A r.(=) p.(=) - likely benign g.2042727G>A g.1992726G>A SYNGR3(NM_004209.5):c.428G>A (p.(Gly143Glu)) - GFER_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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