All transcript variants in gene GOSR2

Information The variants shown are described using the NM_004287.3 transcript reference sequence.

43 entries on 1 page. Showing entries 1 - 43.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.-60dup likely benign r.(?) p.(=) g.45000499dup - GOSR2(NM_004287.4):c.-60dupG - GOSR2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.-30G>C benign r.(?) p.(=) g.45000529G>C - GOSR2(NM_004287.4):c.-30G>C - GOSR2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.-30G>C benign r.(?) p.(=) g.45000529G>C - GOSR2(NM_004287.4):c.-30G>C - GOSR2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.-12G>C benign r.(?) p.(=) g.45000547G>C - GOSR2(NM_004287.4):c.-12G>C - GOSR2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.-12G>C benign r.(?) p.(=) g.45000547G>C - GOSR2(NM_004287.4):c.-12G>C - GOSR2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.7C>A benign r.(?) p.(Pro3Thr) g.45000565C>A - GOSR2(NM_004287.4):c.7C>A (p.P3T) - GOSR2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/. 1 c.22dup pathogenic r.(?) p.(Thr8Asnfs*54) g.45000580dup - - - GOSR2_000015 - - - - Germline yes - - 0 - Elizabeth Ulm
-?/. - c.30-14T>C likely benign r.(=) p.(=) g.45006872T>C - GOSR2(NM_004287.4):c.30-14T>C - GOSR2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.95-179A>G likely benign r.(=) p.(=) g.45008286A>G - GOSR2(NM_004287.4):c.95-179A>G - GOSR2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.95-75A>T likely benign r.(=) p.(=) g.45008390A>T - GOSR2(NM_004287.4):c.95-75A>T - GOSR2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.95-15T>C likely benign r.(=) p.(=) g.45008450T>C - GOSR2(NM_004287.4):c.95-15T>C - GOSR2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.95-5T>C likely benign r.spl? p.? g.45008460T>C - GOSR2(NM_004287.4):c.95-5T>C - GOSR2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.109A>T VUS r.(?) p.(Ile37Phe) g.45008479A>T - GOSR2(NM_004287.4):c.109A>T (p.I37F) - GOSR2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.200G>A benign r.(?) p.(Arg67Lys) g.45008570G>A - GOSR2(NM_004287.4):c.200G>A (p.R67K) - GOSR2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.200G>A benign r.(?) p.(Arg67Lys) g.45008570G>A - GOSR2(NM_004287.4):c.200G>A (p.R67K) - GOSR2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.200G>A benign r.(?) p.(Arg67Lys) g.45008570G>A - GOSR2(NM_004287.4):c.200G>A (p.R67K) - GOSR2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.213C>A VUS r.(?) p.(Asp71Glu) g.45009442C>A - GOSR2(NM_004287.4):c.213C>A (p.D71E) - GOSR2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.336+45G>T benign r.(=) p.(=) g.45009610G>T - GOSR2(NM_004287.4):c.336+45G>T - GOSR2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/? - c.430G>T - r.(?) p.(Gly144Trp) g.45012488G>T g.46935122G>T - - GOSR2_000001 - - - - Unknown ? - - - - Marcel Nelen
+/. 5 c.430G>T - r.(?) p.(Gly144Trp) g.45012488G>T g.46935122G>T - - GOSR2_000001 - - - - Germline - - - 0 - Erik-Jan Kamsteeg
+/. 5 c.430G>T - r.(?) p.(Gly144Trp) g.45012488G>T g.46935122G>T - - GOSR2_000001 homozygosity mapping, 0.3 cM shared ancestral haplotype; not in 584 control chromosomes PubMed: Corbett 2011, Journal: Corbett 2011 - - Germline yes - - 0 - Johan den Dunnen
+/. 5 c.430G>T - r.(?) p.(Gly144Trp) g.45012488G>T g.46935122G>T - - GOSR2_000001 - PubMed: Corbett 2011, Journal: Corbett 2011 - - Germline yes 1/73 cases - 0 - Johan den Dunnen
+/. 5 c.430G>T - r.(?) p.(Gly144Trp) g.45012488G>T g.46935122G>T - - GOSR2_000001 - PubMed: Corbett 2011, Journal: Corbett 2011 - - Germline yes 1/73 cases - 0 - Johan den Dunnen
+/. 5 c.430G>T - r.(?) p.(Gly144Trp) g.45012488G>T g.46935122G>T - - GOSR2_000001 - PubMed: Corbett 2011, Journal: Corbett 2011 - - Germline yes 1/73 cases - 0 - Johan den Dunnen
+/. 5 c.430G>T - r.(?) p.(Gly144Trp) g.45012488G>T g.46935122G>T - - GOSR2_000001 - PubMed: Corbett 2011, Journal: Corbett 2011 - - Germline yes 1/73 cases - 0 - Johan den Dunnen
+/. 5 c.430G>T - r.(?) p.(Gly144Trp) g.45012488G>T g.46935122G>T - - GOSR2_000001 - PubMed: Corbett 2011, Journal: Corbett 2011 - - Germline yes 1/73 cases - 0 - Johan den Dunnen
+/. 5 c.430G>T - r.(?) p.(Gly144Trp) g.45012488G>T g.46935122G>T - - GOSR2_000001 - PubMed: Van Egmond 2014, Journal: Van Egmond 2014 - - Germline yes - - 0 - Johan den Dunnen
+/. 5 c.430G>T - r.(?) p.(Gly144Trp) g.45012488G>T g.46935122G>T - - GOSR2_000001 - PubMed: Van Egmond 2014, Journal: Van Egmond 2014 - - Germline yes - - 0 - Johan den Dunnen
+/. 5 c.430G>T - r.(?) p.(Gly144Trp) g.45012488G>T g.46935122G>T - - GOSR2_000001 - PubMed: Van Egmond 2014, Journal: Van Egmond 2014 - - Germline yes - - 0 - Johan den Dunnen
+/. 5 c.430G>T - r.(?) p.(Gly144Trp) g.45012488G>T g.46935122G>T - - GOSR2_000001 - PubMed: Van Egmond 2014, Journal: Van Egmond 2014 - - Germline yes - - 0 - Johan den Dunnen
+/. 5 c.430G>T - r.(?) p.(Gly144Trp) g.45012488G>T g.46935122G>T - - GOSR2_000001 - PubMed: Van Egmond 2014, Journal: Van Egmond 2014 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.430G>T pathogenic r.(?) p.(Gly144Trp) g.45012488G>T - GOSR2(NM_004287.4):c.430G>T (p.G144W), GOSR2(NM_054022.3):c.430G>T (p.G144W) - GOSR2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/. - c.430G>T pathogenic r.(?) p.(Gly144Trp) g.45012488G>T - GOSR2(NM_004287.4):c.430G>T (p.G144W), GOSR2(NM_054022.3):c.430G>T (p.G144W) - GOSR2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.430G>T pathogenic r.(?) p.(Gly144Trp) g.45012488G>T - GOSR2(NM_004287.4):c.430G>T (p.G144W), GOSR2(NM_054022.3):c.430G>T (p.G144W) - GOSR2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.430G>T pathogenic r.(?) p.(Gly144Trp) g.45012488G>T - GOSR2(NM_004287.4):c.430G>T (p.G144W), GOSR2(NM_054022.3):c.430G>T (p.G144W) - GOSR2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. 5 c.430G>T pathogenic r.(?) p.(Gly144Trp) g.45012488G>T - - - GOSR2_000001 - - - - Germline yes - - 0 - Elizabeth Ulm
-?/. - c.478-7G>C likely benign r.(=) p.(=) g.45015958G>C - GOSR2(NM_004287.4):c.478-7G>C - GOSR2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.509A>G VUS r.(?) p.(Asn170Ser) g.45015996A>G - GOSR2(NM_004287.4):c.509A>G (p.N170S) - GOSR2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.509A>G VUS r.(?) p.(Asn170Ser) g.45015996A>G - GOSR2(NM_004287.4):c.509A>G (p.N170S) - GOSR2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.*58_*59del likely benign r.(=) p.(=) g.45016184_45016185del - GOSR2(NM_004287.4):c.*58_*59delTG - GOSR2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.*1655A>G benign r.(=) p.(=) g.45017781A>G - GOSR2(NM_004287.4):c.*1655A>G - GOSR2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.*1823C>T likely benign r.(=) p.(=) g.45017949C>T - GOSR2(NM_054022.3):c.612C>T (p.H204=) - GOSR2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.*24968T>C benign r.(=) p.(=) g.45041094T>C - GOSR2(NM_001321133.1):c.584-2806T>C - GOSR2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
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