Total 8 pathogenic variants reported for Fragile X syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_002024.6(FMR1):c.911T>A (p.Ile304Asn) SNV
Germline		 ChrX:147936534 Pathogenic Fragile X syndrome No Assertion Criteria Provided
 CA254953 rs_121434622

1 SubmittersRCV000010648
NM_002024.6(FMR1):c.80C>A (p.Ser27Ter) SNV
Germline		 ChrX:147921961 Pathogenic Fragile X syndrome No Assertion Criteria Provided
 rs_1569545382

1 SubmittersRCV000022880
NM_002024.6(FMR1):c.1184G>A (p.Trp395Ter) SNV
Unknown		 ChrX:147938157 Likely pathogenic Fragile X syndrome Criteria Provided
Single Submitter
 rs_2043856428

1 SubmittersRCV001328911
NM_002024.6(FMR1):c.1325G>A (p.Arg442Gln) SNV
Germline		 ChrX:147943180 Conflicting classifications of pathogenicity Fragile X syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002465415RCV003149035RCV003317610