Unique variants in the FMR1 gene

Information The variants shown are described using the NM_002024.5 transcript reference sequence.

99 entries on 1 page. Showing entries 1 - 99.
Legend   How to query  

Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

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     
-/. 2 - c.(-144_-16)= GGM[20] r.(?) p.(=) - benign g.(146993554_146993682)= g.(147912036_147912164)= - - FMR1_000101 - PubMed: Snow 1993 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.(-144_-16)ins(9) GGM[23] r.(?) p.(=) - benign g.(146993554_146993682)ins(9) g.(147912036_147912164)ins(9) - - FMR1_000102 - PubMed: Snow 1993 - - Germline - - - - - Johan den Dunnen
+?/. 2 1 c.(-144_-16)ins(93) GGM[51] r.(?) p.(=) - likely pathogenic (recessive) g.(146993554_146993682)ins(93) g.(147912036_147912164)ins(93) - - FMR1_000100 - PubMed: Snow 1993 - - Germline - - - - - Johan den Dunnen
?/. 1 1 c.-128_-69GGC[10]GGA[1]GGC[12] GGM[23]-10-1-12 r.(?) p.? - VUS g.146993570_146993629GGC[10]GGA[1]GGC[12] - - - FMR1_000017 - - - - Germline - - - - - Simon Ardui
?/. 3 1 c.-128_-69GGC[10]GGA[1]GGC[9]GGA[1]GGC[10] GGM[31]-10-1-9-1-10 r.(?) p.? - VUS g.146993570_146993629GGC[10]GGA[1]GGC[9]GGA[1]GGC[10] - - - FMR1_000010 - - - - Germline - - - - - Simon Ardui
?/. 1 1 c.-128_-69GGC[10]GGA[1]GGC[9]GGA[1]GGC[9]GGA[1]GGC[9]GGA[1]GGC[10] GGM[51]-10-1-9-1-9-1-9-1-10 r.(?) p.? - VUS g.146993570_146993629GGC[10]GGA[1]GGC[9]GGA[1]GGC[9]GGA[1]GGC[9]GGA[1]GGC[10] - - - FMR1_000034 - - - - Germline - - - - - Simon Ardui
?/. 1 1 c.-128_-69GGC[13]GGA[1]GGC[9]GGA[1]GGC[9] GGM[33]-13-1-9-1-9 r.(?) p.? - VUS g.146993570_146993629GGC[13]GGA[1]GGC[9]GGA[1]GGC[9] - - - FMR1_000024 - - - - Germline - - - - - Simon Ardui
-/- 1 1 c.-128_-69GGC[14] GGM[14]-14 r.(?) p.(=) - benign g.146993570_146993629GGC[14] - - - FMR1_000014 - PubMed: Eichler 1995, Journal: Eichler 1995 - - Germline - 1/406 chromosomes - - - Johan den Dunnen
?/. 1 1 c.-128_-69GGC[16]GGA[1]GGC[9] GGM[26]-16-1-9 r.(?) p.? - VUS g.146993570_146993629GGC[16]GGA[1]GGC[9] - - - FMR1_000020 - - - - Germline - - - - - Simon Ardui
?/. 1 1 c.-128_-69GGC[17]GGA[1]GGC[9] GGM[27]-17-1-9 r.(?) p.? - VUS g.146993570_146993629GGC[17]GGA[1]GGC[9] - - - FMR1_000021 - - - - Germline - - - - - Simon Ardui
?/. 1 1 c.-128_-69GGC[20]GGA[1]GGC[9]GGA[1]GGC[10] GGM[31]-20-1-9-1-10 r.(?) p.? - VUS g.146993570_146993629GGC[20]GGA[1]GGC[9]GGA[1]GGC[10] - - - FMR1_000010 - - - - Germline - - - - - Simon Ardui
?/. 1 1 c.-128_-69GGC[20]GGA[1]GGC[9]GGA[1]GGC[9] GGM[40]-20-1-9-1-9 r.(?) p.? - VUS g.146993570_146993629GGC[20]GGA[1]GGC[9]GGA[1]GGC[9] - - - FMR1_000027 - - - - Germline - - - - - Simon Ardui
?/. 1 1 c.-128_-69GGC[21]GGA[1]GGC[20] GGM[42]-21-1-20 r.(?) p.? - VUS g.146993570_146993629GGC[21]GGA[1]GGC[20] - - - FMR1_000029 - - - - Germline - - - - - Simon Ardui
?/. 1 1 c.-128_-69GGC[21]GGA[1]GGC[9]GGA[1]GGC[9] GGM[41]-21-1-9-1-9 r.(?) p.? - VUS g.146993570_146993629GGC[21]GGA[1]GGC[9]GGA[1]GGC[9] - - - FMR1_000028 - - - - Germline - - - - - Simon Ardui
?/. 1 1 c.-128_-69GGC[23]GGA[1]GGC[9]GGA[1]GGC[9] GGM[43]-23-1-9-1-9 r.(?) p.? - VUS g.146993570_146993629GGC[23]GGA[1]GGC[9]GGA[1]GGC[9] - - - FMR1_000030 - - - - Germline - - - - - Simon Ardui
?/. 1 1 c.-128_-69GGC[25]GGA[1]GGC[10] GGM[36]-25-1-10 r.(?) p.? - VUS g.146993570_146993629GGC[25]GGA[1]GGC[10] - - - FMR1_000025 - - - - Germline - - - - - Simon Ardui
?/. 1 1 c.-128_-69GGC[25]GGA[1]GGC[9]GGA[1]GGC[9] GGM[45]-25-1-9-1-9 r.(?) p.? - VUS g.146993570_146993629GGC[25]GGA[1]GGC[9]GGA[1]GGC[9] - - - FMR1_000031 - - - - Germline - - - - - Simon Ardui
?/. 1 1 c.-128_-69GGC[27]GGA[1]GGC[9]GGA[1]GGC[9] GGM[47]-27-1-9-1-9 r.(?) p.? - VUS g.146993570_146993629GGC[27]GGA[1]GGC[9]GGA[1]GGC[9] - - - FMR1_000033 - - - - Germline - - - - - Simon Ardui
?/. 1 1 c.-128_-69GGC[32]GGA[1]GGC[9]GGA[1]GGC[9] GGM[52]-32-1-9-1-9 r.(?) p.? - VUS g.146993570_146993629GGC[32]GGA[1]GGC[9]GGA[1]GGC[9] - - - FMR1_000035 - - - - Germline - - - - - Simon Ardui
?/. 1 1 c.-128_-69GGC[33]GGA[1]GGC[9]GGA[1]GGC[9] GGM[53]-33-1-9-1-9 r.(?) p.? - VUS g.146993570_146993629GGC[33]GGA[1]GGC[9]GGA[1]GGC[9] - - - FMR1_000036 - - - - Germline - - - - - Simon Ardui
?/. 1 1 c.-128_-69GGC[37]GGA[1]GGC[7]GGA[1]GGC[9] GGM[55]-37-1-7-1-9 r.(?) p.? - VUS g.146993570_146993629GGC[37]GGA[1]GGC[7]GGA[1]GGC[9] - - - FMR1_000037 - - - - Germline - - - - - Simon Ardui
?/. 1 1 c.-128_-69GGC[39] GGM[39]-39 r.(?) p.? - VUS g.146993570_146993629GGC[39] - - - FMR1_000026 - - - - Germline - - - - - Simon Ardui
?/. 1 1 c.-128_-69GGC[40]GGA[1]GGC[9]GGA[1]GGC[9] GGM[60]-40-1-9-1-9 r.(?) p.? - VUS g.146993570_146993629GGC[40]GGA[1]GGC[9]GGA[1]GGC[9] - - - FMR1_000039 - - - - Germline - - - - - Simon Ardui
?/. 1 1 c.-128_-69GGC[42]GGA[1]GGC[9]GGA[1]GGC[9] GGM[62]-42-1-9-1-9 r.(?) p.? - VUS g.146993570_146993629GGC[42]GGA[1]GGC[9]GGA[1]GGC[9] - - - FMR1_000042 - - - - Germline - - - - - Simon Ardui
?/. 1 1 c.-128_-69GGC[43]GGA[1]GGC[9]GGA[1]GGC[9] GGM[63]-43-1-9-1-9 r.(?) p.? - VUS g.146993570_146993629GGC[43]GGA[1]GGC[9]GGA[1]GGC[9] - - - FMR1_000043 - - - - Germline - - - - - Simon Ardui
?/. 1 1 c.-128_-69GGC[44]GGA[1]GGC[9]GGA[1]GGC[9] GGM[64]-44-1-9-1-9 r.(?) p.? - VUS g.146993570_146993629GGC[44]GGA[1]GGC[9]GGA[1]GGC[9] - - - FMR1_000045 - - - - Germline - - - - - Simon Ardui
?/. 1 1 c.-128_-69GGC[45] GGM[45]-45 r.(?) p.? - VUS g.146993570_146993629GGC[45] - - - FMR1_000032 - - - - Germline - - - - - Simon Ardui
?/. 3 1 c.-128_-69GGC[45]GGA[1]GGC[9]GGA[1]GGC[9] GGM[65]-45-1-9-1-9 r.(?) p.? - VUS g.146993570_146993629GGC[45]GGA[1]GGC[9]GGA[1]GGC[9] - - - FMR1_000047 - - - - Germline - - - - - Simon Ardui
?/. 1 1 c.-128_-69GGC[47]GGA[1]GGC[10] GGM[58]-47-1-10 r.(?) p.? - VUS g.146993570_146993629GGC[47]GGA[1]GGC[10] - - - FMR1_000038 - - - - Germline - - - - - Simon Ardui
?/. 1 1 c.-128_-69GGC[47]GGA[1]GGC[9]GGA[1]GGC[9] GGM[67]-47-1-9-1-9 r.(?) p.? - VUS g.146993570_146993629GGC[47]GGA[1]GGC[9]GGA[1]GGC[9] - - - FMR1_000048 - - - - Germline - - - - - Simon Ardui
?/. 1 1 c.-128_-69GGC[49]GGA[1]GGC[11] GGM[61]-49-1-11 r.(?) p.? - VUS g.146993570_146993629GGC[49]GGA[1]GGC[11] - - - FMR1_000040 - - - - Germline - - - - - Simon Ardui
?/. 1 1 c.-128_-69GGC[49]GGA[1]GGC[9]GGA[1]GGC[9] GGM[69]-49-1-9-1-9 r.(?) p.? - VUS g.146993570_146993629GGC[49]GGA[1]GGC[9]GGA[1]GGC[9] - - - FMR1_000050 - - - - Germline - - - - - Simon Ardui
?/. 1 1 c.-128_-69GGC[50]GGA[1]GGC[9]GGA[1]GGC[9] GGM[70]-50-1-9-1-9 r.(?) p.? - VUS g.146993570_146993629GGC[50]GGA[1]GGC[9]GGA[1]GGC[9] - - - FMR1_000054 - - - - Germline - - - - - Simon Ardui
?/. 1 1 c.-128_-69GGC[51]GGA[1]GGC[9] GGM[61]-51-1-9 r.(?) p.? - VUS g.146993570_146993629GGC[51]GGA[1]GGC[9] - - - FMR1_000041 - - - - Germline - - - - - Simon Ardui
?/. 1 1 c.-128_-69GGC[52]GGA[1]GGC[9]GGA[1]GGC[9] GGM[72]-52-1-9-1-9 r.(?) p.? - VUS g.146993570_146993629GGC[52]GGA[1]GGC[9]GGA[1]GGC[9] - - - FMR1_000056 - - - - Germline - - - - - Simon Ardui
?/. 1 1 c.-128_-69GGC[53]GGA[1]GGC[9] GGM[63]-53-1-9 r.(?) p.? - VUS g.146993570_146993629GGC[53]GGA[1]GGC[9] - - - FMR1_000044 - - - - Germline - - - - - Simon Ardui
?/. 1 1 c.-128_-69GGC[53]GGA[1]GGC[9]GGA[1]GGC[9] GGM[73]-53-1-9-1-9 r.(?) p.? - VUS g.146993570_146993629GGC[53]GGA[1]GGC[9]GGA[1]GGC[9] - - - FMR1_000058 - - - - Germline - - - - - Simon Ardui
?/. 1 1 c.-128_-69GGC[54]GGA[1]GGC[9] GGM[64]-54-1-9 r.(?) p.? - VUS g.146993570_146993629GGC[54]GGA[1]GGC[9] - - - FMR1_000046 - - - - Germline - - - - - Simon Ardui
?/. 1 1 c.-128_-69GGC[56]GGA[1]GGC[7]GGA[1]GGC[9] GGM[74]-56-1-7-1-9 r.(?) p.? - VUS g.146993570_146993629GGC[56]GGA[1]GGC[7]GGA[1]GGC[9] - - - FMR1_000059 - - - - Germline - - - - - Simon Ardui
?/. 1 1 c.-128_-69GGC[59]GGA[1]GGC[9] GGM[69]-59-1-9 r.(?) p.? - VUS g.146993570_146993629GGC[59]GGA[1]GGC[9] - - - FMR1_000051 - - - - Germline - - - - - Simon Ardui
?/. 1 1 c.-128_-69GGC[59]GGA[1]GGC[9]GGA[1]GGC[9] GGM[78]-59-1-9-1-9 r.(?) p.? - VUS g.146993570_146993629GGC[59]GGA[1]GGC[9]GGA[1]GGC[9] - - - FMR1_000062 - - - - Germline - - - - - Simon Ardui
?/. 1 1 c.-128_-69GGC[60]GGA[1]GGC[9] GGM[70]-60-1-9 r.(?) p.? - VUS g.146993570_146993629GGC[60]GGA[1]GGC[9] - - - FMR1_000055 - - - - Germline - - - - - Simon Ardui
?/. 1 1 c.-128_-69GGC[62]GGA[1]GGC[9] GGM[72]-62-1-9 r.(?) p.? - VUS g.146993570_146993629GGC[62]GGA[1]GGC[9] - - - FMR1_000057 - - - - Germline - - - - - Simon Ardui
?/. 1 1 c.-128_-69GGC[67] GGM[67]-67 r.(?) p.? - VUS g.146993570_146993629GGC[67] - - - FMR1_000049 - - - - Germline - - - - - Simon Ardui
?/. 1 1 c.-128_-69GGC[67]GGA[1]GGC[9] GGM[77]-67-1-9 r.(?) p.? - VUS g.146993570_146993629GGC[67]GGA[1]GGC[9] - - - FMR1_000061 - - - - Germline - - - - - Simon Ardui
?/. 1 1 c.-128_-69GGC[68]GGA[1]GGC[9] GGM[69]-68-1-9 r.(?) p.? - VUS g.146993570_146993629GGC[68]GGA[1]GGC[9] - - - FMR1_000052 - - - - Germline - - - - - Simon Ardui
?/. 1 1 c.-128_-69GGC[69] GGM[69]-69 r.(?) p.? - VUS g.146993570_146993629GGC[69] - - - FMR1_000053 - - - - Germline - - - - - Simon Ardui
?/. 1 1 c.-128_-69GGC[71]GGA[1]GGC[9] GGM[81]-71-1-9 r.(?) p.? - VUS g.146993570_146993629GGC[71]GGA[1]GGC[9] - - - FMR1_000064 - - - - Germline - - - - - Simon Ardui
?/. 1 1 c.-128_-69GGC[72]GGA[1]GGC[9]GGA[1]GGC[9] GGM[92]-72-1-9-1-9 r.(?) p.? - VUS g.146993570_146993629GGC[72]GGA[1]GGC[9]GGA[1]GGC[9] - - - FMR1_000066 - - - - Germline - - - - - Simon Ardui
?/. 2 1 c.-128_-69GGC[73]GGA[1]GGC[9]GGA[1]GGC[9] GGM[79]-73-1-9-1-9, GGM[93]-73-1-9-1-9 r.(?) p.? - VUS g.146993570_146993629GGC[73]GGA[1]GGC[9]GGA[1]GGC[9] - - - FMR1_000063 - - - - Germline - - - - - Simon Ardui
?/. 1 1 c.-128_-69GGC[76] GGM[76]-76 r.(?) p.? - VUS g.146993570_146993629GGC[76] - - - FMR1_000060 - - - - Germline - - - - - Simon Ardui
?/. 1 1 c.-128_-69GGC[79]GGA[1]GGC[9] GGM[89]-79-1-9 r.(?) p.? - VUS g.146993570_146993629GGC[79]GGA[1]GGC[9] - - - FMR1_000065 - - - - Germline - - - - - Simon Ardui
?/. 1 1 c.-128_-69GGC[86]GGA[1]GGC[7]GGA[1]GGC[9] GGM[104]-86-1-7-1-9 r.(?) p.? - VUS g.146993570_146993629GGC[86]GGA[1]GGC[7]GGA[1]GGC[9] - - - FMR1_000069 - - - - Germline - - - - - Simon Ardui
-?/. 1 1 c.-128_-69GGC[8]GGA[1]GGC[8]GGA[1]GGC[8]GGA[1]GGC[9] GGM[36]-8-1-8-1-8-1-9 r.(?) p.(=) - likely benign g.146993570_146993629GGC[8]GGA[1]GGC[8]GGA[1]GGC[8]GGA[1]GGC[9] - - - FMR1_000015 - PubMed: Eichler 1995, Journal: Eichler 1995 - - Germline ? 1/406 chromosomes - - - Johan den Dunnen
?/. 1 1 c.-128_-69GGC[92]GGA[1]GGC[9] GGM[102]-92-1-9 r.(?) p.? - VUS g.146993570_146993629GGC[92]GGA[1]GGC[9] - - - FMR1_000068 - - - - Germline - - - - - Simon Ardui
?/. 1 1 c.-128_-69GGC[9]GGA[1]GGC[10] GGM[20]-9-1-10 r.(?) p.? - VUS g.146993570_146993629GGC[9]GGA[1]GGC[10] - - - FMR1_000016 - - - - Germline - - - - - Simon Ardui
?/. 1 1 c.-128_-69GGC[9]GGA[1]GGC[11]GGA[1]GGC[9] GGM[31]-9-1-11-1-9 r.(?) p.? - VUS g.146993570_146993629GGC[9]GGA[1]GGC[11]GGA[1]GGC[9] - - - FMR1_000022 - - - - Germline - - - - - Simon Ardui
?/. 1 1 c.-128_-69GGC[9]GGA[1]GGC[12]GGA[1]GGC[9] GGM[32]-9-1-12-1-9 r.(?) p.? - VUS g.146993570_146993629GGC[9]GGA[1]GGC[12]GGA[1]GGC[9] - - - FMR1_000023 - - - - Germline - - - - - Simon Ardui
?/. 1 1 c.-128_-69GGC[9]GGA[1]GGC[13] GGM[23]-9-1-13 r.(?) p.? - VUS g.146993570_146993629GGC[9]GGA[1]GGC[13] - - - FMR1_000018 - - - - Germline - - - - - Simon Ardui
?/. 1 1 c.-128_-69GGC[9]GGA[1]GGC[14] GGM[24]-9-1-14 r.(?) p.? - VUS g.146993570_146993629GGC[9]GGA[1]GGC[14] - - - FMR1_000019 - - - - Germline - - - - - Simon Ardui
?/. 11 1 c.-128_-69GGC[9]GGA[1]GGC[9]GGA[1]GGC[10] GGM[30]-9-1-9-1-10 r.(?) p.? - VUS g.146993570_146993629GGC[9]GGA[1]GGC[9]GGA[1]GGC[10] - - - FMR1_000006 - - - - Germline - - - - - Simon Ardui
?/. 4 1 c.-128_-69GGC[9]GGA[1]GGC[9]GGA[1]GGC[9] GGM[29]-9-1-9-1-9 r.(?) p.? - VUS g.146993570_146993629GGC[9]GGA[1]GGC[9]GGA[1]GGC[9] - - - FMR1_000005 - - - - Germline - - - - - Simon Ardui
-?/. 1 - c.36T>C - r.(?) p.(Asn12=) - likely benign g.146993733T>C g.147912215T>C FMR1(NM_002024.5):c.36T>C (p.N12=) - FMR1_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.104+1G>A - r.spl? p.? - likely pathogenic g.147003504G>A - FMR1(NM_002024.5):c.104+1G>A (p.?) - FMR1_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 2i c.104+61T>C - r.(?) p.(=) - likely benign g.147003564T>C g.147922046= - - FMR1_000007 - - - - Germline - - - - - Yu Sun
-/. 1 - c.357A>C - r.(?) p.(Lys119Asn) - benign g.147010263A>C g.147928745A>C FMR1(NM_002024.5):c.357A>C (p.K119N) - FMR1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.375T>C - r.(?) p.(Thr125=) - likely benign g.147010281T>C g.147928763T>C FMR1(NM_002024.5):c.375T>C (p.T125=) - FMR1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.413G>A - r.(?) p.(Arg138Gln) - VUS g.147010319G>A g.147928801G>A FMR1(NM_002024.5):c.413G>A (p.R138Q) - FMR1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 5 c.414G>A - r.(?) p.(Arg138=) - benign, likely benign g.147010320G>A g.147928802G>A FMR1(NM_002024.5):c.414G>A (p.R138=), R138R - FMR1_000002 recurrent, found 21 times, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 21/208 families - - - Lucy Raymond, VKGL-NL_Rotterdam
-?/. 1 - c.419+6T>C - r.(=) p.(=) - likely benign g.147010331T>C g.147928813T>C FMR1(NM_002024.5):c.419+6T>C - FMR1_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.420-8A>T - r.(=) p.(=) - likely benign g.147011459A>T g.147929940A>T FMR1(NM_001185075.1):c.420-8A>T (p.(=)) - FMR1_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.500A>C - r.(?) p.(Gln167Pro) - VUS g.147011547A>C g.147930028A>C FMR1(NM_002024.5):c.500A>C (p.Q167P) - FMR1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.651G>A - r.(?) p.(Ser217=) - likely benign g.147013964G>A g.147932445G>A FMR1(NM_002024.5):c.651G>A (p.S217=) - FMR1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.714T>C - r.(?) p.(Gly238=) - likely benign g.147014027T>C g.147932508T>C FMR1(NM_002024.5):c.714T>C (p.G238=) - FMR1_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/? 1 8 c.797G>A - r.(?) p.(Gly266Glu) - pathogenic g.147014110G>A g.147932591G>A - - FMR1_000013 - - - - Germline - - - - - Leila Myrick
+/. 1 8 c.801G>A - r.spl? p.(Glu267=) - likely pathogenic g.147014114G>A g.147932595G>A - - FMR1_000093 - - - - De novo - - - - - Thierry Bienvenu
+?/. 1 - c.881-1G>T - r.spl p.? - likely pathogenic (recessive) g.147018022G>T g.147936503G>T - - FMR1_000098 - - - - Germline/De novo (untested) - - - - - Irma Järvelä
-?/. 1 - c.982C>G - r.(?) p.(Gln328Glu) - likely benign g.147018124C>G g.147936605C>G FMR1(NM_002024.5):c.982C>G (p.Q328E) - FMR1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 2 - c.990+14C>T - r.(=) p.(=) - benign g.147018146C>T g.147936627C>T FMR1(NM_002024.5):c.990+14C>T - FMR1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
?/. 1 - c.991-2A>G - r.spl? p.? - VUS g.147018983A>G g.147937464A>G FMR1(NM_002024.5):c.991-2A>G - FMR1_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1021_1028delinsTATTGG - r.1021-1028delinsuauugg p.Asn341Tyrfs*7 - pathogenic (recessive) g.147019015_147019022delinsTATTGG g.147937496_147937503delinsTATTGG - - FMR1_000097 - - - - Germline yes - - - - Irma Järvelä
-?/. 1 - c.1034T>C - r.(?) p.(Val345Ala) - likely benign g.147019028T>C g.147937509T>C FMR1(NM_002024.5):c.1034T>C (p.V345A) - FMR1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 11i c.1125+73G>A - r.(?) p.(=) - likely benign g.147019192G>A g.147937673G>A - - FMR1_000008 - - - - Germline - - - - - Yu Sun
?/. 1 - c.1325G>A - r.(?) p.(Arg442Gln) - VUS g.147024700G>A g.147943180G>A FMR1(NM_002024.5):c.1325G>A (p.(Arg442Gln)) - FMR1_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1361G>C - r.(?) p.(Arg454Pro) - VUS g.147024736G>C g.147943216G>C FMR1(NM_002024.5):c.1361G>C (p.R454P) - FMR1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1411C>T - r.(?) p.(Arg471Ter) - pathogenic g.147024786C>T - FMR1(NM_002024.5):c.1411C>T (p.R471*) - FMR1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 2 14i c.1472-59del - r.(?) p.(=) - likely benign g.147026330del g.147944810del - - FMR1_000011 - - - - Germline - - - - - Yu Sun
-?/. 1 14i c.1472-56del - r.(?) p.(=) - likely benign g.147026333del g.147944813del - - FMR1_000003 - - - - Germline - - - - - Yu Sun
-?/. 2 - c.1572C>T - r.(?) p.(Ser524=) - likely benign g.147026489C>T g.147944969C>T FMR1(NM_001185075.1):c.1301C>T (p.A434V, p.(Ala434Val)) - FMR1_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
+/. 1 15 c.1613dup - r.(?) p.(Arg539Lysfs*23) - pathogenic g.147026530dup g.147945010dup - - FMR1_000009 fs within the RGG box - - - Unknown ? - - - - Guy Froyen
-?/. 1 - c.1737+8C>A - r.(=) p.(=) - likely benign g.147027144C>A g.147945624C>A FMR1(NM_001185075.1):c.1466+8C>A (p.(=)) - FMR1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 16i_17_ c.(1737+1_1738-1)_(*1_?)del - r.? p.? - pathogenic (recessive) g.(147027137_147030202)_(147030365_?)del g.(147945617_147948682)_(147948845_?)del - - FMR1_000096 - PubMed: Redin 2014 - - Germline yes - - - - Johan den Dunnen
?/. 1 - c.1742_1753del - r.(?) p.(Arg581_Cys584del) - VUS g.147030207_147030218del g.147948687_147948698del FMR1(NM_002024.5):c.1740_1751del (p.(Arg581_Cys584del)) - FMR1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1745T>C - r.(?) p.(Val582Ala) - VUS g.147030210T>C g.147948690T>C FMR1(NM_002024.5):c.1745T>C (p.V582A) - FMR1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.1776T>C - r.(?) p.(Thr592=) - VUS g.147030241T>C g.147948721T>C FMR1(NM_001185075.1):c.1505T>C (p.L502P) - FMR1_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1801G>A - r.(?) p.(Glu601Lys) - VUS g.147030266G>A - FMR1(NM_002024.5):c.1801G>A (p.E601K) - FMR1_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 3 17 c.1857C>T - r.(?) p.(Asp619=) - likely benign g.147030322C>T g.147948802C>T D619D, FMR1(NM_001185075.1):c.1586C>T (p.T529I, p.(Thr529Ile)) - FMR1_000001 found once, nonrecurrent change, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 1/208 families - - - Lucy Raymond, VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 1 - c.1881C>T - r.(?) p.(Leu627=) - VUS g.147030346C>T - FMR1(NM_001185075.1):c.1610C>T (p.S537L) - FMR1_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 17 c.*1174C>T - r.(?) p.(=) - likely benign g.147031538C>T g.147950018C>T - - FMR1_000004 - - - - Germline - - - - - Yu Sun
Legend   How to query