The variants listed in this table have been provided by GeneReviews' contributing author(s); the GeneReviews staff have not independently verified their classifications.
Location (GRCh37) Genes HGVS coding Source ClinVar Accession Pathogenicity Last Evaluated
3:178927980-178927980
NG_012113.2:g.66670T>C GeneReviews RCV000024623 Pathologic 2013-08-15
3:178936082-178936082
NG_012113.2:g.74772G>A GeneReviews RCV000024622 Pathologic 2013-08-15
3:178936091-178936091
NG_012113.2:g.74781G>A GeneReviews RCV000055930 Pathologic 2013-08-15
3:178952085-178952085
NG_012113.2:g.90775A>G GeneReviews RCV000024621 Pathologic 2013-08-15
3:178952085-178952085
NG_012113.2:g.90775A>T GeneReviews RCV000032905 Pathologic 2013-08-15