| RS587783686 |
KMT2D
|
Health Risk |
Pathogenic/Likely pathogenic |
Kabuki syndrome 1, Kabuki syndrome 1 |
| RS587783687 |
KMT2D
|
Health Risk |
Pathogenic |
Kabuki syndrome 1, Kabuki syndrome 1 |
| RS587783688 |
KMT2D
|
Health Risk |
Pathogenic |
Kabuki syndrome 1, Kabuki syndrome 1 |
| RS587783689 |
KMT2D
|
Health Risk |
Pathogenic/Likely pathogenic |
Kabuki syndrome 1, Kabuki syndrome 1 |
| RS587783690 |
KMT2D
|
Health Risk |
Pathogenic |
Kabuki syndrome 1, Inborn genetic diseases |
| RS587783691 |
KMT2D
|
Health Risk |
Pathogenic |
Kabuki syndrome 1, Kabuki syndrome 1 |
| RS587783692 |
KMT2D
|
Health Risk |
Pathogenic |
Kabuki syndrome 1, Kabuki syndrome |
| RS587783693 |
KMT2D
|
Health Risk |
Pathogenic/Likely pathogenic |
Kabuki syndrome 1, Kabuki syndrome 1 |
| RS587783694 |
KMT2D
|
Health Risk |
Conflicting classifications of pathogenicity |
Kabuki syndrome 1, Kabuki syndrome |
| RS587783695 |
KMT2D
|
Health Risk |
Pathogenic/Likely pathogenic |
Kabuki syndrome 1, Kabuki syndrome 1 |
| RS587783696 |
KMT2D
|
Health Risk |
Pathogenic |
Kabuki syndrome 1, Kabuki syndrome 1 |
| RS587783697 |
KMT2D
|
Health Risk |
Pathogenic |
Neoplasm, Kabuki syndrome 1 |
| RS587783698 |
KMT2D
|
Health Risk |
Pathogenic |
Kabuki syndrome 1, Kabuki syndrome |
| RS587783699 |
KMT2D
|
Health Risk |
Pathogenic |
Kabuki syndrome 1, Kabuki syndrome 1 |
| RS587783700 |
KMT2D
|
Health Risk |
Likely pathogenic |
Kabuki syndrome 1, Kabuki syndrome 1 |
| RS587783701 |
KMT2D
|
Health Risk |
Conflicting classifications of pathogenicity |
Kabuki syndrome 1, Kabuki syndrome |
| RS587783702 |
KMT2D
|
Health Risk |
Likely pathogenic |
Kabuki syndrome 1, Kabuki syndrome 1 |
| RS587783703 |
KMT2D
|
Health Risk |
Pathogenic |
Kabuki syndrome 1, Kabuki syndrome |
| RS587783704 |
KMT2D
|
Health Risk |
Conflicting classifications of pathogenicity |
Kabuki syndrome 1, Kabuki syndrome 1 |
| RS587783705 |
KMT2D
|
Health Risk |
Pathogenic |
Kabuki syndrome 1, Kabuki syndrome 1 |
| RS587783707 |
KMT2D
|
Health Risk |
Conflicting classifications of pathogenicity |
Kabuki syndrome, Kabuki syndrome |
| RS587783708 |
KMT2D
|
Health Risk |
Pathogenic |
Kabuki syndrome 1, Kabuki syndrome 1 |
| RS587783711 |
KMT2D
|
Health Risk |
Pathogenic |
Kabuki syndrome 1, Kabuki syndrome 1 |
| RS587783712 |
KMT2D
|
Health Risk |
Pathogenic |
Kabuki syndrome 1, Kabuki syndrome 1 |
| RS587783713 |
KMT2D
|
Health Risk |
Pathogenic |
Kabuki syndrome 1, Kabuki syndrome 1 |
| RS587783714 |
KMT2D
|
Health Risk |
Pathogenic |
Kabuki syndrome 1, Kabuki syndrome 1 |
| RS587783715 |
KMT2D
|
Health Risk |
Pathogenic |
Kabuki syndrome 1, Kabuki syndrome 1 |
| RS587783717 |
KMT2D
|
Health Risk |
Conflicting classifications of pathogenicity |
Kabuki syndrome 1, Inborn genetic diseases |
| RS587783718 |
KMT2D
|
Health Risk |
Pathogenic |
Kabuki syndrome 1, Kabuki syndrome |
| RS587783719 |
KMT2D
|
Health Risk |
Pathogenic |
Kabuki syndrome 1, Kabuki syndrome 1 |
| RS587783723 |
KMT2D
|
Health Risk |
Pathogenic |
Kabuki syndrome 1, Kabuki syndrome 1 |
| RS587783724 |
KMT2D
|
Health Risk |
Conflicting classifications of pathogenicity |
Kabuki syndrome 1, Kabuki syndrome |
| RS587783725 |
KMT2D
|
Health Risk |
Pathogenic |
Kabuki syndrome 1, Kabuki syndrome 1 |
| RS587783726 |
KMT2D
|
Health Risk |
Conflicting classifications of pathogenicity |
Kabuki syndrome 1, Kabuki syndrome |
| RS587783727 |
KMT2D
|
Health Risk |
Pathogenic/Likely pathogenic |
Kabuki syndrome 1, Kabuki syndrome 1 |
| RS587783728 |
KMT2D
|
Health Risk |
Pathogenic/Likely pathogenic |
Kabuki syndrome 1, Kabuki syndrome 1 |
| RS587783729 |
KMT2D
|
Health Risk |
Pathogenic/Likely pathogenic |
Kabuki syndrome 1, Kabuki syndrome |
| RS587783731 |
LARGE1
|
Health Risk |
Conflicting classifications of pathogenicity |
Muscular dystrophy, Muscular dystrophy-dystroglycanopathy type B6 |
| RS587783732 |
MCPH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Microcephaly 1, primary |
| RS587783733 |
MCPH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Microcephaly 1, primary |
| RS587783734 |
MCPH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Microcephaly 1, primary |
| RS587783735 |
MCPH1
|
Health Risk |
Pathogenic/Likely pathogenic |
Microcephaly 1, primary |
| RS587783736 |
MCPH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Microcephaly 1, primary |
| RS587783739 |
MCPH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Microcephaly 1, primary |
| RS587783741 |
MCPH1
|
Health Risk |
Likely pathogenic |
Microcephaly 1, primary |
| RS587783743 |
MCPH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Microcephaly 1, primary |
| RS587783747 |
MEF2C
|
Health Risk |
Pathogenic/Likely pathogenic |
Neurodevelopmental disorder with hypotonia, stereotypic hand movements |
| RS587783749 |
MEF2C
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder with hypotonia, stereotypic hand movements |
| RS587783750 |
MTM1
|
Health Risk |
Likely pathogenic |
Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy |
| RS587783751 |
MTM1
|
Health Risk |
Pathogenic |
Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy |
| RS587783752 |
MTM1
|
Health Risk |
Pathogenic |
Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy |
| RS587783753 |
MTM1
|
Health Risk |
Pathogenic |
Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy |
| RS587783754 |
MTM1
|
Health Risk |
Pathogenic |
Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy |
| RS587783755 |
MTM1
|
Health Risk |
Likely pathogenic |
Severe X-linked myotubular myopathy, Inborn genetic diseases |
| RS587783756 |
MTM1
|
Health Risk |
Pathogenic |
Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy |
| RS587783757 |
MTM1
|
Health Risk |
Pathogenic |
Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy |
| RS587783758 |
MTM1
|
Health Risk |
Pathogenic |
Severe X-linked myotubular myopathy, Nonpapillary renal cell carcinoma |
| RS587783759 |
MTM1
|
Health Risk |
Pathogenic |
Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy |
| RS587783760 |
MTM1
|
Health Risk |
Likely pathogenic |
Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy |
| RS587783761 |
MTM1
|
Health Risk |
Pathogenic |
Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy |
| RS587783762 |
MTM1
|
Health Risk |
Pathogenic |
Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy |
| RS587783763 |
MTM1
|
Health Risk |
Pathogenic |
Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy |
| RS587783764 |
MTM1
|
Health Risk |
Likely pathogenic |
Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy |
| RS587783765 |
MTM1
|
Health Risk |
Conflicting classifications of pathogenicity |
Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy |
| RS587783766 |
MTM1
|
Health Risk |
Pathogenic/Likely pathogenic |
Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy |
| RS587783768 |
MTM1
|
Health Risk |
Pathogenic/Likely pathogenic |
Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy |
| RS587783769 |
MTM1
|
Health Risk |
Conflicting classifications of pathogenicity |
Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy |
| RS587783770 |
MTM1
|
Health Risk |
Pathogenic |
Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy |
| RS587783771 |
MTM1
|
Health Risk |
Pathogenic |
Severe X-linked myotubular myopathy, Neurodevelopmental disorder |
| RS587783772 |
MTM1
|
Health Risk |
Pathogenic/Likely pathogenic |
Severe X-linked myotubular myopathy, Spastic paraplegia |
| RS587783773 |
MTM1
|
Health Risk |
Pathogenic |
Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy |
| RS587783774 |
MTM1
|
Health Risk |
Likely pathogenic |
Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy |
| RS587783775 |
MTM1
|
Health Risk |
Pathogenic |
Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy |
| RS587783776 |
MTM1
|
Health Risk |
Likely pathogenic |
Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy |
| RS587783777 |
MTM1
|
Health Risk |
Likely pathogenic |
Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy |
| RS587783778 |
MTM1
|
Health Risk |
Pathogenic |
Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy |
| RS587783779 |
MTM1
|
Health Risk |
Pathogenic |
Severe X-linked myotubular myopathy, Nonpapillary renal cell carcinoma |
| RS587783780 |
MTM1
|
Health Risk |
Pathogenic |
Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy |
| RS587783781 |
MTM1
|
Health Risk |
Likely pathogenic |
Severe X-linked myotubular myopathy, Centronuclear myopathy |
| RS587783782 |
MTM1
|
Health Risk |
Pathogenic |
Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy |
| RS587783783 |
MTM1
|
Health Risk |
Conflicting classifications of pathogenicity |
Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy |
| RS587783785 |
MTM1
|
Health Risk |
Conflicting classifications of pathogenicity |
Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy |
| RS587783786 |
MTM1
|
Health Risk |
Pathogenic |
Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy |
| RS587783787 |
MTM1
|
Health Risk |
Likely pathogenic |
Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy |
| RS587783788 |
MTM1
|
Health Risk |
Pathogenic |
Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy |
| RS587783789 |
MTM1
|
Health Risk |
Conflicting classifications of pathogenicity |
Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy |
| RS587783791 |
MTM1
|
Health Risk |
Pathogenic |
Severe X-linked myotubular myopathy, MTM1-related disorder |
| RS587783792 |
MTM1
|
Health Risk |
Pathogenic |
Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy |
| RS587783793 |
MTM1
|
Health Risk |
Pathogenic |
Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy |
| RS587783794 |
MTM1
|
Health Risk |
Pathogenic |
Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy |
| RS587783795 |
MTM1
|
Health Risk |
Pathogenic |
Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy |
| RS587783796 |
MTM1
|
Health Risk |
Pathogenic |
Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy |
| RS587783797 |
MTM1
|
Health Risk |
Pathogenic/Likely pathogenic |
Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy |
| RS587783798 |
MTM1
|
Health Risk |
Pathogenic |
Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy |
| RS587783799 |
MTM1
|
Health Risk |
Pathogenic |
Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy |
| RS587783801 |
MTM1
|
Health Risk |
Conflicting classifications of pathogenicity |
Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy |
| RS587783802 |
MTM1
|
Health Risk |
Pathogenic/Likely pathogenic |
Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy |
| RS587783803 |
MTM1
|
Health Risk |
Pathogenic |
Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy |
| RS587783804 |
MTM1
|
Health Risk |
Pathogenic |
Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy |
| RS587783805 |
MTM1
|
Health Risk |
Pathogenic |
Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy |