All variants in the FHL1 gene

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_001159702.2 transcript reference sequence.

173 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

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.(?_888+214)_(*1655_?)del r.? p.? - pathogenic (recessive) g.(?_135291815)_(135293768_?)del - chrX:135291815-135293768 - FHL1_000093 2 kb deletion PubMed: Topf 2020 - - Germline - 1/1001 cases - 0 - Johan den Dunnen
-?/. 1i c.-100-378dup r.(=) p.(=) - likely benign g.135251688dup g.136169529dup - - FHL1_000026 - - - - Germline - - - - - Yu Sun
-?/. 1i c.-100-378dup r.(=) p.(=) - likely benign g.135251688dup g.136169529dup - - FHL1_000028 - - - - Germline - - - - - Yu Sun
-?/. 1i c.-100-378dup r.(=) p.(=) - likely benign g.135251688dup g.136169529dup - - FHL1_000026 - - - - Germline - - - - - Yu Sun
-?/. 1i c.-100-378dup r.(=) p.(=) - likely benign g.135251688dup g.136169529dup - - FHL1_000028 - - - - Germline - - - - - Yu Sun
-?/. 2i c.-27+95del r.(=) p.(=) - likely benign g.135252234del g.136170075del - - FHL1_000029 - - - - Germline - - - - - Yu Sun
-?/. 2i c.-27+95del r.(=) p.(=) - likely benign g.135252234del g.136170075del - - FHL1_000029 - - - - Germline - - - - - Yu Sun
-?/. 2i c.-27+97del r.(=) p.(=) - likely benign g.135252236del g.136170077del - - FHL1_000025 - - - - Germline - - - - - Yu Sun
-?/. 2i c.-27+97del r.(=) p.(=) - likely benign g.135252236del g.136170077del - - FHL1_000025 - - - - Germline - - - - - Yu Sun
-/. - c.-26-9615C>G r.(=) p.(=) - benign g.135278951C>G - FHL1(NM_001159701.2):c.-11C>G - FHL1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.-26-9586T>C r.(=) p.(=) - likely benign g.135278980T>C g.136196821T>C FHL1(NM_001159701.1):c.19T>C (p.S7P) - FHL1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.-26-9580G>C r.(=) p.(=) - VUS g.135278986G>C - FHL1(NM_001159701.2):c.25G>C (p.A9P) - FHL1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.-26-9544G>T r.(=) p.(=) - VUS g.135279022G>T g.136196863G>T FHL1(NM_001159701.1):c.61G>T (p.G21C) - FHL1_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-26-5C>T r.spl? p.? - benign g.135288561C>T g.136206402C>T FHL1(NM_001159699.1):c.23-5C>T (p.?), FHL1(NM_001159704.1):c.-26-5C>T - FHL1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.-26-5C>T r.spl? p.? - likely benign g.135288561C>T g.136206402C>T FHL1(NM_001159699.1):c.23-5C>T (p.?), FHL1(NM_001159704.1):c.-26-5C>T - FHL1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.-26-5C>T r.spl? p.? - likely benign g.135288561C>T g.136206402C>T FHL1(NM_001159699.1):c.23-5C>T (p.?), FHL1(NM_001159704.1):c.-26-5C>T - FHL1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.-26-5C>T r.spl? p.? - VUS g.135288561C>T g.136206402C>T FHL1(NM_001159699.1):c.23-5C>T (p.?), FHL1(NM_001159704.1):c.-26-5C>T - FHL1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+/. _1_8_ c.0 r.0 p.0 - pathogenic g.(?_135229559)_(135293518_?)del - del gene - FHL1_000062 no sequence FHL gene PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 3 c.5C>T r.(?) p.(Ala2Val) - VUS g.135288596C>T g.136206437C>T - - FHL1_000063 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 3 c.5C>T r.(?) p.(Ala2Val) - VUS g.135288596C>T g.136206437C>T - - FHL1_000063 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 3 c.5C>T r.(?) p.(Ala2Val) - VUS g.135288596C>T g.136206437C>T - - FHL1_000063 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
-?/. - c.22_25del r.(?) p.(His8ThrfsTer21) - likely benign g.135288613_135288616del g.136206454_136206457del FHL1(NM_001159704.1):c.22_25delCACT (p.H8Tfs*21) - FHL1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.65A>C r.(?) p.(Lys22Thr) - VUS g.135288656A>C g.136206497A>C FHL1(NM_001159704.1):c.65A>C (p.K22T) - FHL1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.113A>G r.(?) p.(Asn38Ser) - VUS g.135288704A>G g.136206545A>G FHL1(NM_001159704.1):c.113A>G (p.N38S) - FHL1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. 3 c.113A>G r.(?) p.(Asn38Ser) - VUS g.135288704A>G g.136206545A>G - - FHL1_000036 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. - c.113A>G r.(?) p.(Asn38Ser) - VUS g.135288704A>G g.136206545A>G - - FHL1_000036 - PubMed: Walsh 2017 - - Germline - 4/1535 cases - 0 - Johan den Dunnen
?/. - c.119G>A r.(?) p.(Cys40Tyr) - VUS g.135288710G>A g.136206551G>A - - FHL1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.142G>A r.(?) p.(Gly48Ser) - VUS g.135288733G>A g.136206574G>A - - FHL1_000094 - PubMed: Walsh 2017 - - Germline - 1/1535 cases - 0 - Johan den Dunnen
-/. - c.156+5C>T r.spl? p.? - benign g.135288752C>T g.136206593C>T FHL1(NM_001159699.1):c.204+5C>T (p.?), FHL1(NM_001159704.1):c.156+5C>T - FHL1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.156+5C>T r.spl? p.? - benign g.135288752C>T g.136206593C>T FHL1(NM_001159699.1):c.204+5C>T (p.?), FHL1(NM_001159704.1):c.156+5C>T - FHL1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.156+5C>T r.spl? p.? - benign g.135288752C>T g.136206593C>T FHL1(NM_001159699.1):c.204+5C>T (p.?), FHL1(NM_001159704.1):c.156+5C>T - FHL1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.156+5C>T r.spl? p.? - likely benign g.135288752C>T g.136206593C>T FHL1(NM_001159699.1):c.204+5C>T (p.?), FHL1(NM_001159704.1):c.156+5C>T - FHL1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.156+5C>T r.spl? p.? - benign g.135288752C>T g.136206593C>T FHL1(NM_001159699.1):c.204+5C>T (p.?), FHL1(NM_001159704.1):c.156+5C>T - FHL1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.156+14C>G r.(=) p.(=) - benign g.135288761C>G g.136206602C>G FHL1(NM_001159704.1):c.156+14C>G - FHL1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.156+14C>G r.(=) p.(=) - likely benign g.135288761C>G g.136206602C>G FHL1(NM_001159704.1):c.156+14C>G - FHL1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/. - c.161dup r.(?) p.(His55Alafs*3) - pathogenic g.135289179dup - FHL1(NM_001449.5):c.161dupT (p.H55Afs*3) - FHL1_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.195C>T r.(?) p.(Cys65=) - likely benign g.135289213C>T g.136207054C>T - - FHL1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.199C>T r.(?) p.(Arg67Cys) - VUS g.135289217C>T g.136207058C>T FHL1(NM_001449.5):c.199C>T (p.R67C) - FHL1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.199C>T r.(?) p.(Arg67Cys) - VUS g.135289217C>T - FHL1(NM_001449.5):c.199C>T (p.R67C) - FHL1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.211T>A r.(?) p.(Cys71Ser) - VUS g.135289229T>A g.136207070T>A - - FHL1_000095 - PubMed: Walsh 2017 - - Germline - 1/1535 cases - 0 - Johan den Dunnen
+/. 4 c.213C>A r.(?) p.(Cys71*) - pathogenic g.135289231C>A g.136207072C>A - - FHL1_000064 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
-?/. - c.220C>T r.(?) p.(Pro74Ser) - likely benign g.135289238C>T g.136207079C>T FHL1(NM_001159704.1):c.220C>T (p.P74S) - FHL1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.221C>G r.(?) p.(Pro74Arg) - VUS g.135289239C>G g.136207080C>G - - FHL1_000096 - PubMed: Walsh 2017 - - Germline - 1/1535 cases - 0 - Johan den Dunnen
?/. 4 c.254A>G r.(?) p.(Asn85Ser) - VUS g.135289272A>G g.136207113A>G - - FHL1_000065 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. - c.280A>G r.(?) p.(Thr94Ala) - VUS g.135289298A>G g.136207139A>G - - FHL1_000097 - PubMed: Walsh 2017 - - Germline - 1/1535 cases - 0 - Johan den Dunnen
+/. 4 c.302G>T r.(?) p.(Cys101Phe) - pathogenic g.135289320G>T g.136207161G>T - - FHL1_000019 not in >250 control chromosomes PubMed: Shalaby 2009 - - Germline - - - 0 - Johan den Dunnen
+/. 4 c.304_312del r.(?) p.(Lys102_Cys104del) - pathogenic g.135289322_135289330del g.136207163_136207171del - - FHL1_000020 not in >250 control chromosomes PubMed: Shalaby 2009 - - Germline - - - 0 - Johan den Dunnen
?/. 4 c.308G>T r.(?) p.(Gly103Val) - VUS g.135289326G>T g.136207167G>T - - FHL1_000066 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 4 c.310T>C r.(?) p.(Cys104Arg) - pathogenic g.135289328T>C g.136207169T>C - - FHL1_000018 not in >250 control chromosomes PubMed: Shalaby 2009, OMIM:var0009 - - Germline - - - 0 - Johan den Dunnen
+/. 4 c.310T>C r.(?) p.(Cys104Arg) - pathogenic g.135289328T>C g.136207169T>C - - FHL1_000018 not in >250 control chromosomes PubMed: Shalaby 2009, OMIM:var0009 - - Germline - - - 0 - Johan den Dunnen
+/. - c.331G>T r.(?) p.(Gly111*) - pathogenic g.135289349G>T g.136207190G>T - - FHL1_000098 - PubMed: Walsh 2017 - - Germline - 1/1535 cases - 0 - Johan den Dunnen
?/. - c.331+4C>T r.spl? p.? - VUS g.135289353C>T g.136207194C>T FHL1(NM_001159702.2):c.331+4C>T - FHL1_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 4i_6i c.332-?_688+?del r.(ex05ex06del) p.(del?) - pathogenic g.135289951_135290800del - - - FHL1_000005 1.44Kb deletion; linkage to Xq26.3; not in 200 control chromosomes Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Gueneau 2009 - - Germline - - - 0 - Johan den Dunnen
?/. - c.343G>T r.(?) p.(Val115Leu) - VUS g.135289962G>T g.136207803G>T - - FHL1_000099 - PubMed: Walsh 2017 - - Germline - 1/1535 cases - 0 - Johan den Dunnen
?/. 5 c.356G>T NM_001449.4 p.(Gly119Val) - VUS g.135289975G>T g.136207816G>T - - FHL1_000067 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 5 c.361G>A r.(?) p.(Val121Ile) - VUS g.135289980G>A g.136207821G>A - - FHL1_000068 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 5 c.361G>A r.(?) p.(Val121Ile) - VUS g.135289980G>A g.136207821G>A - - FHL1_000068 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 5 c.365G>C r.(?) p.(Trp122Ser) - pathogenic g.135289984G>C g.136207825G>C - - FHL1_000010 linkage to Xq26.3; not in 235 control chromosomes PubMed: Quinzii 2008, OMIM:var0001 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.365G>C r.(?) p.(Trp122Ser) - pathogenic g.135289984G>C g.136207825G>C - - FHL1_000010 linkage to Xq26.3; not in 235 control chromosomes PubMed: Quinzii 2008, OMIM:var0001 - - Germline - - - 0 - Johan den Dunnen
?/. 5 c.366G>C r.(?) p.(Trp122Cys) - VUS g.135289985G>C g.136207826G>C - - FHL1_000069 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 5 c.367C>T r.367c>u p.His123Tyr - pathogenic g.135289986C>T g.136207827C>T - - FHL1_000013 skewed X-inactivation normal allele (72%) PubMed: Schessl 2008, OMIM:var0004 - - De novo - - - 0 - Johan den Dunnen
+/. 5 c.367C>T r.367c>u p.His123Tyr - NA g.135289986C>T g.136207827C>T - - FHL1_000013 expression cloning COS-7 and C2C12 cells gives dense large inclusions (mostly adjacent to nucleus) PubMed: Schessl 2008, OMIM:var0004 - - In vitro (cloned) - - - 0 - Johan den Dunnen
+/. 5 c.371_372del r.(?) p.(Lys124Argfs*6) - pathogenic g.135289990_135289991del g.136207831_136207832del 371_372delAA - FHL1_000008 not in 200 control chromosomes PubMed: Gueneau 2009 - - Germline - - - 0 - Johan den Dunnen
?/. 5 c.374A>G r.(?) p.(Asp125Gly) - VUS g.135289993A>G g.136207834A>G - - FHL1_000070 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 5 c.380_382dup r.(?) p.(Phe127_Thr128insIle) - pathogenic g.135289999_135290001dup g.136207840_136207842dup 381_382insATC - FHL1_000012 not in 570 Australian chromosomes PubMed: Windpassinger 2008, OMIM:var0003 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.395G>T r.395g>u p.Cys132Phe - pathogenic g.135290014G>T g.136207855G>T - - FHL1_000014 skewed X-inactivation normal allele (78%) PubMed: Schessl 2008, OMIM:var0005 - - De novo - - - 0 - Johan den Dunnen
+/. 5 c.395G>T r.395g>u p.Cys132Phe - NA g.135290014G>T g.136207855G>T - - FHL1_000014 expression cloning COS-7 and C2C12 cells gives dense large inclusions (mostly adjacent to nucleus) PubMed: Schessl 2008, OMIM:var0005 - - In vitro (cloned) - - - 0 - Johan den Dunnen
?/. - c.395G>T r.(?) p.(Cys132Phe) - VUS g.135290014G>T g.136207855G>T - - FHL1_000014 - PubMed: Walsh 2017 - - Germline - 1/1535 cases - 0 - Johan den Dunnen
-/. - c.441C>T r.(?) p.(Asp147=) - benign g.135290060C>T g.136207901C>T FHL1(NM_001159704.1):c.441C>T (p.D147=) - FHL1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.441C>T r.(?) p.(Asp147=) - likely benign g.135290060C>T g.136207901C>T FHL1(NM_001159704.1):c.441C>T (p.D147=) - FHL1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.441C>T r.(?) p.(Asp147=) - benign g.135290060C>T g.136207901C>T FHL1(NM_001159704.1):c.441C>T (p.D147=) - FHL1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. 5 c.441C>T r.(?) p.(=) - likely benign g.135290060C>T g.136207901C>T p.D147D - FHL1_000001 recurrent, found 2 times; only summary data are given - for details contact Lucy Raymond (flr24 @ cam.ac.uk) PubMed: Tarpey 2009 - - Germline - - - 0 - Johan den Dunnen
-/. - c.441C>T r.(?) p.(Asp147=) - benign g.135290060C>T g.136207901C>T FHL1(NM_001159704.1):c.441C>T (p.D147=) - FHL1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 5 c.446_448del r.(?) p.(Tyr149del) - VUS g.135290065_135290067del g.136207906_136207908del 446_448delACT - FHL1_000071 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 5 c.446_448del r.(?) p.(Tyr149del) - VUS g.135290065_135290067del g.136207906_136207908del 446_448delACT - FHL1_000071 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 5 c.449G>A r.(?) p.(Cys150Tyr) - pathogenic g.135290068G>A g.136207909G>A - - FHL1_000017 not in >250 control chromosomes PubMed: Shalaby 2009, OMIM:var0008 - - Germline - - - 0 - Johan den Dunnen
-/. - c.450C>T r.(?) p.(Cys150=) - benign g.135290069C>T g.136207910C>T FHL1(NM_001159704.1):c.450C>T (p.C150=) - FHL1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. 5 c.457T>C r.457u>c p.Cys153Arg - pathogenic g.135290076T>C g.136207917T>C - - FHL1_000015 no skewed X-inactivation PubMed: Schessl 2008, OMIM:var0006 - - De novo - - - 0 - Johan den Dunnen
+/. 5 c.457T>C r.457u>c p.Cys153Arg - pathogenic g.135290076T>C g.136207917T>C - - FHL1_000015 - PubMed: Schessl 2008, OMIM:var0006 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.458G>A r.458g>a p.Cys153Tyr - pathogenic g.135290077G>A g.136207918G>A - - FHL1_000016 no skewed X-inactivation PubMed: Schessl 2008, OMIM:var0007 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.458G>A r.458g>a p.Cys153Tyr - pathogenic g.135290077G>A g.136207918G>A - - FHL1_000016 - PubMed: Schessl 2008, OMIM:var0007 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.458G>A r.(?) p.(Cys153Tyr) - pathogenic (dominant) g.135290077G>A g.136207918G>A - - FHL1_000016 - PubMed: Evilä 2016 - - Germline - - - 0 - Johan den Dunnen
+?/. 5 c.461A>C r.(?) p.(His154Pro) - likely pathogenic g.135290080A>C g.136207921A>C - - FHL1_000023 - - - - Germline - - - 0 - Zohreh Fattahi
+/. 5 c.469_470del r.(?) p.(Lys157Valfs*36) - pathogenic g.135290088_135290089del g.136207929_136207930del - - FHL1_000006 not in 200 control chromosomes PubMed: Gueneau 2009 - - Germline - - - 0 - Johan den Dunnen
?/. 5 c.486C>G r.(?) p.(Cys162Trp) - VUS g.135290105C>G g.136207946C>G - - FHL1_000072 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
-/. - c.486C>T r.(?) p.(Cys162=) - benign g.135290105C>T g.136207946C>T FHL1(NM_001159704.1):c.486C>T (p.C162=) - FHL1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.488T>G r.(?) p.(Val163Gly) - VUS g.135290107T>G g.136207948T>G - - FHL1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. 5i c.501+130G>A r.(=) p.(=) - likely benign g.135290250G>A g.136208091G>A - - FHL1_000027 - - - - Germline - - - - - Yu Sun
-?/. 5i c.501+130G>A r.(=) p.(=) - likely benign g.135290250G>A g.136208091G>A - - FHL1_000027 - - - - Germline - - - - - Yu Sun
+/. 5i_6i c.502-20_688+395delins(84) r.502_888del p.Ala168_Pro296del - pathogenic g.? - NM_001449.4:831-20_1017+395del602ins84 - FHL1_000022 mRNA no FHL1A, FHL1B reduced, FHL1C raised 20x PubMed: Tiffin 2013 - - Germline - - - 0 - Johan den Dunnen
+/. 5i c.502-2A>T r.502_888del p.Ala168_Pro296del - pathogenic g.135290612A>T g.136208453A>T - - FHL1_000021 mRNA isoforms A and B lost, FHL1C 200x higher expressed PubMed: Pen 2013 - - Germline - - - 0 - Johan den Dunnen
?/. - c.503C>T r.(?) p.(Ala168Val) - VUS g.135290615C>T - 551C>T (Ala184Val) - FHL1_000105 - PubMed: Saat 2021 - - Germline - - - 0 - Ibrahim Sahin
?/. - c.523A>C r.(?) p.(Thr175Pro) - VUS g.135290635A>C g.136208476A>C - - FHL1_000100 - PubMed: Walsh 2017 - - Germline - 1/1535 cases - 0 - Johan den Dunnen
+/. 6 c.546T>A r.(?) p.(His182Gln) - pathogenic g.135290658T>A g.136208499T>A - - FHL1_000031 - - - - Germline - - - 0 - Eugen-Matthias Strehle
+?/. - c.546T>A r.(?) p.(His182Gln) - likely pathogenic g.135290658T>A g.136208499T>A - - FHL1_000031 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - 0 - Johan den Dunnen
?/. - c.556T>C r.(?) p.(Phe186Leu) - VUS g.135290668T>C g.136208509T>C - - FHL1_000101 - PubMed: Walsh 2017 - - Germline - 1/1535 cases - 0 - Johan den Dunnen
?/. - c.563G>T r.(?) p.(Cys188Phe) - VUS g.135290675G>T g.136208516G>T FHL1(NM_001159702.2):c.563G>T (p.C188F), FHL1(NM_001159704.1):c.563G>T (p.C188F) - FHL1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.563G>T r.(?) p.(Cys188Phe) - VUS g.135290675G>T g.136208516G>T FHL1(NM_001159702.2):c.563G>T (p.C188F), FHL1(NM_001159704.1):c.563G>T (p.C188F) - FHL1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.581del r.(?) p.(Lys194SerfsTer44) - likely pathogenic g.135290693del g.136208534del FHL1(NM_001159704.1):c.581delA (p.K194Sfs*64) - FHL1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. 6 c.596G>A NM_001449.4 p.(Arg199His) - VUS g.135290708G>A g.136208549G>A - - FHL1_000073 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
Legend   How to query   « First ‹ Prev     1 2     Next › Last »