| RS2140201780 |
ATL1
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A |
| RS2140204512 |
DICER1
|
Health Risk |
Pathogenic |
DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2140205433 |
ATL1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A |
| RS2140205438 |
ATL1
|
Health Risk |
Likely pathogenic |
Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A |
| RS2140205448 |
ATL1
|
Health Risk |
Likely pathogenic |
Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A |
| RS2140206143 |
DICER1
|
Health Risk |
Pathogenic |
DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2140206874 |
DICER1
|
Health Risk |
Pathogenic |
DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2140207003 |
DICER1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2140207293 |
DICER1
|
Health Risk |
Pathogenic |
DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2140207359 |
ZFYVE26
|
Health Risk |
Pathogenic |
Spastic paraplegia, Spastic paraplegia |
| RS2140207402 |
ZFYVE26
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15 |
| RS2140207535 |
ZFYVE26
|
Health Risk |
Pathogenic |
Spastic paraplegia, Spastic paraplegia |
| RS2140208028 |
DICER1
|
Health Risk |
Pathogenic |
DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome |
| RS2140208127 |
ATL1
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A |
| RS2140208697 |
DICER1
|
Health Risk |
Pathogenic |
DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2140209334 |
MAP1A
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2140209847 |
ATL1
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A |
| RS2140212384 |
ZFYVE26
|
Health Risk |
Pathogenic |
Spastic paraplegia, Spastic paraplegia |
| RS2140212459 |
ZFYVE26
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary spastic paraplegia, Spastic paraplegia |
| RS2140212599 |
ZFYVE26
|
Health Risk |
Pathogenic |
Spastic paraplegia, Spastic paraplegia |
| RS2140214976 |
ZFYVE26
|
Health Risk |
Likely pathogenic |
Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15 |
| RS2140215645 |
ZFYVE26
|
Health Risk |
Likely pathogenic |
Spastic paraplegia, Spastic paraplegia |
| RS2140215707 |
ZFYVE26
|
Health Risk |
Pathogenic |
Spastic paraplegia, Spastic paraplegia |
| RS2140218992 |
ZFYVE26
|
Health Risk |
Pathogenic |
Spastic paraplegia, Spastic paraplegia |
| RS2140219010 |
ZFYVE26
|
Health Risk |
Pathogenic |
Spastic paraplegia, Spastic paraplegia |
| RS2140219280 |
DACT1
|
Health Risk |
Likely pathogenic |
— |
| RS2140220785 |
ZFYVE26
|
Health Risk |
Pathogenic |
Spastic paraplegia, Spastic paraplegia |
| RS2140222661 |
ZFYVE26
|
Health Risk |
Pathogenic |
Spastic paraplegia, Spastic paraplegia |
| RS2140222938 |
ZFYVE26
|
Health Risk |
Pathogenic |
Spastic paraplegia, Spastic paraplegia |
| RS2140222986 |
ZFYVE26
|
Health Risk |
Pathogenic |
Spastic paraplegia, Spastic paraplegia |
| RS2140223189 |
ZFYVE26
|
Health Risk |
Pathogenic |
Spastic paraplegia, Spastic paraplegia |
| RS2140223564 |
ZFYVE26
|
Health Risk |
Pathogenic |
Spastic paraplegia, Spastic paraplegia |
| RS2140225441 |
ZFYVE26
|
Health Risk |
Likely pathogenic |
Spastic paraplegia, Spastic paraplegia |
| RS2140226621 |
ZFYVE26
|
Health Risk |
Pathogenic |
Spastic paraplegia, Spastic paraplegia |
| RS2140226883 |
ATL1
|
Health Risk |
Likely pathogenic |
Hereditary spastic paraplegia 3A, Inborn genetic diseases |
| RS2140226894 |
ATL1
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A |
| RS2140226921 |
ATL1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A |
| RS2140227633 |
ZFYVE26
|
Health Risk |
Pathogenic/Likely pathogenic |
Spastic paraplegia, Hereditary spastic paraplegia 15 |
| RS2140227651 |
ZFYVE26
|
Health Risk |
Pathogenic |
Spastic paraplegia, Spastic paraplegia |
| RS2140228979 |
PPFIBP1
|
Health Risk |
Pathogenic |
Microcephaly, Severe intellectual disability |
| RS2140233513 |
ATL1
|
Health Risk |
Likely pathogenic |
Neurodevelopmental delay, Neurodevelopmental delay |
| RS2140233530 |
ATL1
|
Health Risk |
Likely pathogenic |
Neurodevelopmental delay, Neurodevelopmental delay |
| RS2140233854 |
DICER1
|
Health Risk |
Pathogenic |
DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2140234028 |
ZFYVE26
|
Health Risk |
Pathogenic |
Spastic paraplegia, Spastic paraplegia |
| RS2140234090 |
ZFYVE26
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia, Hereditary spastic paraplegia |
| RS2140234094 |
DICER1
|
Health Risk |
Pathogenic |
DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2140234163 |
VPS13C
|
Health Risk |
Pathogenic |
Autosomal recessive early-onset Parkinson disease 23, Autosomal recessive early-onset Parkinson disease 23 |
| RS2140234793 |
ATL1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A |
| RS2140235147 |
BMP4
|
Health Risk |
Likely pathogenic |
See cases, See cases |
| RS2140236210 |
TGFB3
|
Health Risk |
Pathogenic |
Rienhoff syndrome, Rienhoff syndrome |
| RS2140236217 |
TGFB3
|
Health Risk |
Pathogenic |
Rienhoff syndrome, Rienhoff syndrome |
| RS2140236263 |
TGFB3
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial thoracic aortic aneurysm and aortic dissection, Rienhoff syndrome |
| RS2140236907 |
TTLL5
|
Health Risk |
Pathogenic |
— |
| RS2140237785 |
ZFYVE26
|
Health Risk |
Pathogenic |
Spastic paraplegia, Spastic paraplegia |
| RS2140237876 |
ZFYVE26
|
Health Risk |
Pathogenic |
Spastic paraplegia, Spastic paraplegia |
| RS2140237954 |
BMP4
|
Health Risk |
Pathogenic |
Microphthalmia with brain and digit anomalies, Microphthalmia with brain and digit anomalies |
| RS2140238013 |
BMP4
|
Health Risk |
Pathogenic |
Microphthalmia with brain and digit anomalies, Orofacial cleft 11 |
| RS2140238043 |
TGFB3
|
Health Risk |
Likely pathogenic |
— |
| RS2140238150 |
BMP4
|
Health Risk |
Pathogenic |
Microphthalmia with brain and digit anomalies, Microphthalmia with brain and digit anomalies |
| RS2140239030 |
ATL1
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A |
| RS2140239163 |
ATL1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A |
| RS2140239426 |
ATL1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A |
| RS2140239458 |
ATL1
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A |
| RS2140240223 |
TGFB3
|
Health Risk |
Pathogenic |
Rienhoff syndrome, Rienhoff syndrome |
| RS2140240984 |
SIX1
|
Health Risk |
Conflicting classifications of pathogenicity |
Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23 |
| RS2140241012 |
SIX1
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3 |
| RS2140241235 |
SIX1
|
Health Risk |
Likely pathogenic |
Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss |
| RS2140242274 |
ZFYVE26
|
Health Risk |
Pathogenic |
Spastic paraplegia, Spastic paraplegia |
| RS2140242947 |
ZFYVE26
|
Health Risk |
Pathogenic |
Spastic paraplegia, Spastic paraplegia |
| RS2140242980 |
ZFYVE26
|
Health Risk |
Pathogenic |
Spastic paraplegia, Spastic paraplegia |
| RS2140242999 |
ZFYVE26
|
Health Risk |
Pathogenic |
Spastic paraplegia, Spastic paraplegia |
| RS2140245174 |
TGFB3
|
Health Risk |
Pathogenic |
— |
| RS2140245186 |
TGFB3
|
Health Risk |
Pathogenic |
Rienhoff syndrome, Rienhoff syndrome |
| RS2140245836 |
TGFB3
|
Health Risk |
Pathogenic |
Rienhoff syndrome, Rienhoff syndrome |
| RS2140246004 |
TGFB3
|
Health Risk |
Pathogenic |
Rienhoff syndrome, Rienhoff syndrome |
| RS2140248598 |
ZFYVE26
|
Health Risk |
Pathogenic |
Spastic paraplegia, Spastic paraplegia |
| RS2140249957 |
B4GALNT1
|
Health Risk |
Likely pathogenic |
— |
| RS2140250002 |
ZFYVE26
|
Health Risk |
Conflicting classifications of pathogenicity |
Spastic paraplegia, Spastic paraplegia |
| RS2140250054 |
THSD4
|
Health Risk |
Pathogenic |
Aortic aneurysm, familial thoracic 12 |
| RS2140250314 |
THSD4
|
Health Risk |
Pathogenic |
— |
| RS2140252322 |
ZFYVE26
|
Health Risk |
Likely pathogenic |
Tip-toe gait, Tip-toe gait |
| RS2140253640 |
ZMYM2
|
Health Risk |
Pathogenic/Likely pathogenic |
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, Congenital anomaly of kidney and urinary tract |
| RS2140253820 |
ZFYVE26
|
Health Risk |
Pathogenic |
Spastic paraplegia, Spastic paraplegia |
| RS2140253913 |
ZMYM2
|
Health Risk |
Likely pathogenic |
Congenital anomaly of kidney and urinary tract, Congenital anomaly of kidney and urinary tract |
| RS2140254268 |
ZMYM2
|
Health Risk |
Pathogenic |
— |
| RS2140254449 |
TGFB3
|
Health Risk |
Pathogenic |
Rienhoff syndrome, Rienhoff syndrome |
| RS2140258948 |
TTLL5
|
Health Risk |
Pathogenic |
— |
| RS2140259561 |
DICER1
|
Health Risk |
Likely pathogenic |
DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2140259715 |
DICER1
|
Health Risk |
Pathogenic |
DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2140259890 |
DICER1
|
Health Risk |
Pathogenic |
DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2140259982 |
DICER1
|
Health Risk |
Pathogenic |
Euthyroid goiter, Euthyroid goiter |
| RS2140260770 |
ZFYVE26
|
Health Risk |
Likely pathogenic |
Abnormal central motor function, Abnormal central motor function |
| RS2140260878 |
ZFYVE26
|
Health Risk |
Pathogenic |
Spastic paraplegia, Spastic paraplegia |
| RS2140260882 |
DICER1
|
Health Risk |
Pathogenic |
DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2140261040 |
ZFYVE26
|
Health Risk |
Pathogenic |
Spastic paraplegia, Spastic paraplegia |
| RS2140261649 |
DICER1
|
Health Risk |
Likely pathogenic |
DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2140267838 |
DICER1
|
Health Risk |
Conflicting classifications of pathogenicity |
DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome |
| RS2140274801 |
THSD4
|
Health Risk |
Pathogenic |
Aortic aneurysm, familial thoracic 12 |
| RS2140278432 |
PPFIBP1
|
Health Risk |
Pathogenic |
Microcephaly, Severe intellectual disability |
| RS2140278766 |
DICER1
|
Health Risk |
Pathogenic |
DICER1-related tumor predisposition, DICER1-related tumor predisposition |