Unique variants in gene GFM1

Information The variants shown are described using the NM_024996.5 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
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Effect     

Reported     

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     
-/. 1 1 c.-31A>G - r.(?) p.(=) g.158362393A>G g.158644604A>G - - GFM1_000003 - - - rs28372853 Germline - frequency up to 0.04 - - - Andreas Laner
-/. 1 - c.18T>C benign r.(?) p.(=) g.158362441T>C - GFM1(NM_024996.5):c.18T>C (p.A6=) - GFM1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.127A>G likely benign r.(?) p.(Asn43Asp) g.158363463A>G - GFM1(NM_024996.5):c.127A>G (p.(Asn43Asp)) - GFM1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 2 c.139C>T pathogenic r.139c>u p.Arg47* g.158363475C>T g.158645686C>T - - GFM1_000007 - PubMed: Valente 2007, OMIM:var0002 - rs119470019 Germline yes - - - - Johan den Dunnen
+/. 1 4 c.521A>G pathogenic r.521a>g p.Asn174Ser g.158364685A>G g.158646896A>G - - GFM1_000006 not in 200 control chromosomes PubMed: Coenen 2004, OMIM:var0001 - rs119470018 Germline yes - MseI- - - Johan den Dunnen
+/. 1 4 c.539delG pathogenic r.(?) p.(Gly180Alafs*11) g.158364703del g.158646914del 539delG - GFM1_000011 - PubMed: Balasubramaniam 2012, Journal: Balasubramaniam 2012 - - Germline yes - - - - Johan den Dunnen
-/. 1 - c.643G>A benign r.(?) p.(Val215Ile) g.158366900G>A - GFM1(NM_024996.5):c.643G>A (p.V215I) - GFM1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 5 c.688G>A pathogenic r.(?) p.(Gly230Ser) g.158366945G>A g.158649156G>A - - GFM1_000012 - PubMed: Balasubramaniam 2012, Journal: Balasubramaniam 2012 - - Germline yes - - - - Johan den Dunnen
+/. 1 5i c.689+908G>A pathogenic (recessive) r.689_690ins689+848_689+904 p.Gly230_231Glnins19 g.158367854G>A g.158650065G>A 689+908G>A NM_001308164.1:c.746+4G>A - GFM1_000005 1 more item PubMed: Simon 2017 - - Germline yes - - - - Mariella Simon
?/. 1 5i c.690-5C>G VUS r.spl? p.? g.158369880C>G g.158652091C>G - - GFM1_000001 - - 210958 rs201685981 Germline - - - - - Andreas Laner
+/. 2 6 c.720del pathogenic (recessive), pathogenic r.(?) p.(Glu241Asnfs*2) g.158369915del g.158652126del, g.158652126delT 720delT - GFM1_000013 variant undetectable in mRNA PubMed: Calvo 2012, PubMed: Calvo 2012, Journal: Calvo 2012 - - Germline - - - - - Mariella Simon, Johan den Dunnen
+/. 2 6 c.748C>T pathogenic (recessive), pathogenic r.(?) p.(Arg250Trp) g.158369943C>T g.158652154C>T - - GFM1_000004 not in 200 control chromosomes; defect rescued by over-expressing normal GFM1 in patient fibroblasts PubMed: Simon 2017, PubMed: Smits 2011, Journal: Smits 2011, OMIM:var0004 30398 rs139430866 Germline yes - - - - Mariella Simon, Johan den Dunnen
?/. 1 - c.808G>A VUS r.(?) p.(Glu270Lys) g.158370003G>A - GFM1(NM_024996.5):c.808G>A (p.(Glu270Lys)) - GFM1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 7 c.910A>G - r.910a>g p.Lys304Glu g.158371168A>G g.158653379A>G - - GFM1_000015 1 more item PubMed: Calvo 2012, Journal: Calvo 2012 - - Germline - - - - - Johan den Dunnen
+/. 1 7 c.961T>C pathogenic r.961u>c p.Ser321Pro g.158371219T>C g.158653430T>C - - GFM1_000009 - PubMed: Antonicka 2006 - - Germline yes - - - - Johan den Dunnen
-?/. 1 8i c.1083+89del - r.(?) p.(=) g.158372509del g.158654720del - - GFM1_000002 - - - - Germline - - - - - Andreas Laner
+/. 1 12 c.1487T>G pathogenic r.1487u>g p.Met496Arg g.158383232T>G g.158665443T>G - - GFM1_000008 - PubMed: Valente 2007, OMIM:var0003 - rs119470020 Germline yes - - - - Johan den Dunnen
-/. 1 - c.1602-17dup benign r.(=) p.(=) g.158399767dup - GFM1(NM_024996.5):c.1602-17_1602-16insT - GFM1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 14i c.1765-2_1765-1del pathogenic r.1765_1909del p.Gly589Profs*19 g.158402311_158402312del g.158684522_158684523del 1765-2_1765-1delAG - GFM1_000010 - PubMed: Antonicka 2006 - - Germline yes - - - - Johan den Dunnen
-?/. 1 - c.1830C>T likely benign r.(?) p.(=) g.158402378C>T - GFM1(NM_024996.5):c.1830C>T (p.V610=) - GFM1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1910-7A>T likely benign r.(=) p.(=) g.158407945A>T - GFM1(NM_024996.5):c.1910-7A>T (p.(=)) - GFM1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1990G>A likely benign r.(?) p.(Val664Ile) g.158408032G>A - GFM1(NM_024996.5):c.1990G>A (p.(Val664Ile)) - GFM1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 16 c.2011C>T pathogenic r.2011c>u p.Arg671Cys g.158408053C>T g.158690264C>T - - GFM1_000014 1 more item PubMed: Calvo 2012 214500 rs201408725 Germline - - - - - Mariella Simon
?/. 1 - c.2051A>C VUS r.(?) p.(Tyr684Ser) g.158408093A>C - GFM1(NM_024996.5):c.2051A>C (p.(Tyr684Ser)) - GFM1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.*6C>T benign r.(=) p.(=) g.158409262C>T - GFM1(NM_024996.5):c.*6C>T - GFM1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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