| RS587778587 |
PALB2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group N |
| RS587778588 |
PALB2
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS587778594 |
PDGFRA
|
Health Risk |
Conflicting classifications of pathogenicity |
Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome |
| RS587778596 |
PDGFRA
|
Health Risk |
Conflicting classifications of pathogenicity |
Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome |
| RS587778597 |
PDGFRA
|
Health Risk |
Conflicting classifications of pathogenicity |
Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome |
| RS587778598 |
PDGFRA
|
Health Risk |
Conflicting classifications of pathogenicity |
Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome |
| RS587778601 |
PDGFRA
|
Health Risk |
Conflicting classifications of pathogenicity |
Gastrointestinal stromal tumor, Myeloproliferative neoplasm |
| RS587778602 |
PDGFRA
|
Health Risk |
Conflicting classifications of pathogenicity |
Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome |
| RS587778606 |
PHOX2B
|
Health Risk |
Conflicting classifications of pathogenicity |
Haddad syndrome, Hereditary cancer-predisposing syndrome |
| RS587778615 |
PMS2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS587778616 |
PMS2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS587778617 |
PMS2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS587778618 |
PMS2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS587778620 |
PMS2
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome 4, Hereditary cancer-predisposing syndrome |
| RS587778627 |
PTCH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Gorlin syndrome, Hereditary cancer-predisposing syndrome |
| RS587778628 |
PTCH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Gorlin syndrome, Basal cell nevus syndrome 1 |
| RS587778629 |
PTCH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Gorlin syndrome, Anophthalmia-microphthalmia syndrome |
| RS587778631 |
PTCH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Gorlin syndrome, Basal cell carcinoma |
| RS587778632 |
PTCH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Retinoblastoma, Hereditary cancer-predisposing syndrome |
| RS587778637 |
RB1
|
Health Risk |
Conflicting classifications of pathogenicity |
Retinoblastoma, Hereditary cancer-predisposing syndrome |
| RS587778640 |
RB1
|
Health Risk |
Conflicting classifications of pathogenicity |
Retinoblastoma, Hereditary cancer-predisposing syndrome |
| RS587778646 |
RECQL4
|
Health Risk |
Conflicting classifications of pathogenicity |
Baller-Gerold syndrome, Ovarian cancer |
| RS587778652 |
RECQL4
|
Health Risk |
Conflicting classifications of pathogenicity |
Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2 |
| RS587778656 |
RET
|
Health Risk |
Conflicting classifications of pathogenicity |
Multiple endocrine neoplasia type 2B, Multiple endocrine neoplasia type 2A |
| RS587778659 |
RET
|
Health Risk |
Conflicting classifications of pathogenicity |
Multiple endocrine neoplasia type 2A, Multiple endocrine neoplasia type 2B |
| RS587778661 |
SDHC
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor |
| RS587778677 |
SETD2
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Rabin-Pappas syndrome |
| RS587778680 |
SMARCA4
|
Health Risk |
Conflicting classifications of pathogenicity |
Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome |
| RS587778681 |
SMARCA4
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2 |
| RS587778683 |
SMARCA4
|
Health Risk |
Conflicting classifications of pathogenicity |
Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome |
| RS587778684 |
SMARCA4
|
Health Risk |
Conflicting classifications of pathogenicity |
Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome |
| RS587778685 |
SMARCA4
|
Health Risk |
Conflicting classifications of pathogenicity |
Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome |
| RS587778686 |
SMARCA4
|
Health Risk |
Conflicting classifications of pathogenicity |
Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome |
| RS587778695 |
STK11
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome |
| RS587778696 |
STK11
|
Health Risk |
Conflicting classifications of pathogenicity |
Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome |
| RS587778699 |
SUFU
|
Health Risk |
Conflicting classifications of pathogenicity |
Microform holoprosencephaly, Hereditary cancer-predisposing syndrome |
| RS587778711 |
TNFAIP3
|
Health Risk |
Conflicting classifications of pathogenicity |
Autoinflammatory syndrome, familial |
| RS587778719 |
TP53
|
Health Risk |
Conflicting classifications of pathogenicity |
Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome |
| RS587778720 |
TP53
|
Health Risk |
Conflicting classifications of pathogenicity |
Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome |
| RS587778722 |
TSC1
|
Health Risk |
Conflicting classifications of pathogenicity |
Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome |
| RS587778724 |
TSC1
|
Health Risk |
Conflicting classifications of pathogenicity |
Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome |
| RS587778726 |
TSC1
|
Health Risk |
Conflicting classifications of pathogenicity |
Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome |
| RS587778728 |
TSC2
|
Health Risk |
Conflicting classifications of pathogenicity |
Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome |
| RS587778729 |
TSC2
|
Health Risk |
Conflicting classifications of pathogenicity |
Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome |
| RS587778730 |
TSC2
|
Health Risk |
Conflicting classifications of pathogenicity |
Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome |
| RS587778731 |
TSC2
|
Health Risk |
Conflicting classifications of pathogenicity |
Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome |
| RS587778732 |
TSC2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2 |
| RS587778733 |
TSC2
|
Health Risk |
Conflicting classifications of pathogenicity |
Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome |
| RS587778734 |
TSC2
|
Health Risk |
Conflicting classifications of pathogenicity |
Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome |
| RS587778736 |
TSC2
|
Health Risk |
Conflicting classifications of pathogenicity |
Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome |
| RS587778737 |
TSC2
|
Health Risk |
Conflicting classifications of pathogenicity |
Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome |
| RS587778738 |
TSC2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2 |
| RS587778740 |
TSC2
|
Health Risk |
Conflicting classifications of pathogenicity |
Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome |
| RS587778744 |
VHL
|
Health Risk |
Conflicting classifications of pathogenicity |
Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS587778771 |
PRRT2
|
Health Risk |
Pathogenic/Likely pathogenic |
Episodic kinesigenic dyskinesia 1, Episodic kinesigenic dyskinesia |
| RS587778773 |
FGFR3
|
Health Risk |
Pathogenic |
— |
| RS587778775 |
FGFR3
|
Health Risk |
Pathogenic |
Hypochondroplasia, Hypochondroplasia |
| RS587778777 |
CYP27A1
|
Health Risk |
Pathogenic |
Cholestanol storage disease, Cardiovascular phenotype |
| RS587778778 |
CYP27A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Cholestanol storage disease, Cardiovascular phenotype |
| RS587778779 |
CYP27A1
|
Health Risk |
Pathogenic |
Cholestanol storage disease, Cholestanol storage disease |
| RS587778780 |
CYP27A1
|
Health Risk |
Pathogenic |
Cholestanol storage disease, Cholestanol storage disease |
| RS587778781 |
CYP27A1
|
Health Risk |
Conflicting classifications of pathogenicity |
Cholestanol storage disease, Cholestanol storage disease |
| RS587778782 |
CYP27A1
|
Health Risk |
Pathogenic |
Cholestanol storage disease, Cholestanol storage disease |
| RS587778784 |
CYP27A1
|
Health Risk |
Pathogenic |
Cholestanol storage disease, Cholestanol storage disease |
| RS587778785 |
CYP27A1
|
Health Risk |
Pathogenic |
Cholestanol storage disease, Cholestanol storage disease |
| RS587778786 |
SHH
|
Health Risk |
Pathogenic |
Holoprosencephaly 3, Holoprosencephaly 3 |
| RS587778787 |
CYP27A1
|
Health Risk |
Pathogenic |
Cholestanol storage disease, Cholestanol storage disease |
| RS587778788 |
SHH
|
Health Risk |
Pathogenic |
Holoprosencephaly 3, Holoprosencephaly 3 |
| RS587778789 |
SHH
|
Health Risk |
Pathogenic |
Holoprosencephaly 3, Holoprosencephaly 3 |
| RS587778790 |
CYP27A1
|
Health Risk |
Pathogenic |
Cholestanol storage disease, Cholestanol storage disease |
| RS587778791 |
KIF1A
|
Health Risk |
Pathogenic/Likely pathogenic |
Neuropathy, hereditary sensory |
| RS587778792 |
SHH
|
Health Risk |
Pathogenic |
Holoprosencephaly 3, Holoprosencephaly 3 |
| RS587778794 |
CYP27A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Cholestanol storage disease, Cholestanol storage disease |
| RS587778795 |
CYP27A1
|
Health Risk |
Conflicting classifications of pathogenicity |
Cholestanol storage disease, Cholestanol storage disease |
| RS587778796 |
CYP27A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Cholestanol storage disease, CYP27A1-related disorder |
| RS587778797 |
CYP27A1
|
Health Risk |
Pathogenic |
Cholestanol storage disease, Cholestanol storage disease |
| RS587778798 |
KIF1A
|
Health Risk |
Pathogenic |
Neuropathy, hereditary sensory |
| RS587778799 |
SHH
|
Health Risk |
Likely pathogenic |
Holoprosencephaly 3, Holoprosencephaly 3 |
| RS587778800 |
CYP27A1
|
Health Risk |
Pathogenic |
Cholestanol storage disease, Cholestanol storage disease |
| RS587778802 |
CYP27A1
|
Health Risk |
Pathogenic |
Cholestanol storage disease, Cholestanol storage disease |
| RS587778803 |
SHH
|
Health Risk |
Pathogenic |
Holoprosencephaly 3, Holoprosencephaly 3 |
| RS587778804 |
CYP27A1
|
Health Risk |
Pathogenic |
Cholestanol storage disease, Cholestanol storage disease |
| RS587778805 |
SHH
|
Health Risk |
Likely pathogenic |
Holoprosencephaly 3, Holoprosencephaly 3 |
| RS587778806 |
SHH
|
Health Risk |
Likely pathogenic |
Holoprosencephaly 3, Holoprosencephaly 3 |
| RS587778807 |
CYP27A1
|
Health Risk |
Pathogenic |
Cholestanol storage disease, Cholestanol storage disease |
| RS587778808 |
CYP27A1
|
Health Risk |
Pathogenic |
Cholestanol storage disease, Cholestanol storage disease |
| RS587778809 |
MFSD8
|
Health Risk |
Pathogenic/Likely pathogenic |
Neuronal ceroid lipofuscinosis 7, Late-infantile neuronal ceroid lipofuscinosis |
| RS587778810 |
CYP27A1
|
Health Risk |
Pathogenic |
Cholestanol storage disease, Cholestanol storage disease |
| RS587778812 |
CYP27A1
|
Health Risk |
Pathogenic |
Cholestanol storage disease, CYP27A1-related disorder |
| RS587778815 |
CYP27A1
|
Health Risk |
Pathogenic |
Cholestanol storage disease, Cholestanol storage disease |
| RS587778816 |
FGFR3
|
Health Risk |
Pathogenic |
— |
| RS587778817 |
FGFR3
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS587778818 |
CYP27A1
|
Health Risk |
Likely pathogenic |
Cholestanol storage disease, CYP27A1-related disorder |
| RS587778819 |
CCDC40
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia 15, Primary ciliary dyskinesia |
| RS587778820 |
CCDC39
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia 14, Primary ciliary dyskinesia |
| RS587778821 |
CCDC39
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia 14, Primary ciliary dyskinesia |
| RS587778822 |
CCDC39
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia 14, Primary ciliary dyskinesia |
| RS587778823 |
RB1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Retinoblastoma |
| RS587778824 |
RB1
|
Health Risk |
Pathogenic |
Retinoblastoma, Retinoblastoma |
| RS587778825 |
RB1
|
Health Risk |
Pathogenic |
Retinoblastoma, Neoplasm |