| RS2538001620 |
VPS13A
|
Health Risk |
Pathogenic |
— |
| RS2538001838 |
VPS13A
|
Health Risk |
Likely pathogenic |
— |
| RS2538001846 |
VPS13A
|
Health Risk |
Likely pathogenic |
— |
| RS2538003343 |
RECQL4
|
Health Risk |
Pathogenic |
Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2538003704 |
RECQL4
|
Health Risk |
Pathogenic |
Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2538004131 |
RECQL4
|
Health Risk |
Pathogenic |
Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2538007167 |
VPS13A
|
Health Risk |
Pathogenic |
— |
| RS2538007450 |
VPS13A
|
Health Risk |
Pathogenic |
— |
| RS2538007464 |
VPS13A
|
Health Risk |
Pathogenic |
— |
| RS2538007674 |
VPS13A
|
Health Risk |
Pathogenic |
— |
| RS2538007740 |
VPS13A
|
Health Risk |
Pathogenic |
— |
| RS2538007769 |
VPS13A
|
Health Risk |
Pathogenic |
— |
| RS2538007835 |
RECQL4
|
Health Risk |
Pathogenic |
Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2538008671 |
RECQL4
|
Health Risk |
Pathogenic |
Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2538008707 |
RECQL4
|
Health Risk |
Pathogenic |
Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2538009104 |
VPS13A
|
Health Risk |
Pathogenic |
— |
| RS2538010993 |
RECQL4
|
Health Risk |
Pathogenic |
Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2538012142 |
FREM1
|
Health Risk |
Likely pathogenic |
— |
| RS2538012993 |
DOCK8
|
Health Risk |
Pathogenic |
Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency |
| RS2538013301 |
DOCK8
|
Health Risk |
Pathogenic |
Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency |
| RS2538014296 |
RECQL4
|
Health Risk |
Pathogenic |
Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2538015512 |
VPS13A
|
Health Risk |
Pathogenic |
Chorea-acanthocytosis, Chorea-acanthocytosis |
| RS2538015541 |
VPS13A
|
Health Risk |
Pathogenic |
— |
| RS2538016493 |
RECQL4
|
Health Risk |
Likely pathogenic |
Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2538017691 |
RECQL4
|
Health Risk |
Pathogenic |
Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2538018196 |
NDRG1
|
Health Risk |
Likely pathogenic |
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2538018509 |
RECQL4
|
Health Risk |
Pathogenic |
Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2538020596 |
RECQL4
|
Health Risk |
Pathogenic |
Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2538020986 |
PTCH1
|
Health Risk |
Pathogenic |
Gorlin syndrome, Hereditary cancer-predisposing syndrome |
| RS2538021302 |
EYA1
|
Health Risk |
Pathogenic |
Melnick-Fraser syndrome, Melnick-Fraser syndrome |
| RS2538021784 |
PTCH1
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2538022099 |
EYA1
|
Health Risk |
Pathogenic |
— |
| RS2538022741 |
DOCK8
|
Health Risk |
Pathogenic |
Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency |
| RS2538023318 |
EYA1
|
Health Risk |
Pathogenic |
Branchiootorenal syndrome 1, Branchiootorenal syndrome 1 |
| RS2538023469 |
EYA1
|
Health Risk |
Pathogenic |
Branchiootic syndrome 1, Branchiootic syndrome 1 |
| RS2538025012 |
NDRG1
|
Health Risk |
Likely pathogenic |
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2538025017 |
CNGB3
|
Health Risk |
Pathogenic |
— |
| RS2538025055 |
CNGB3
|
Health Risk |
Pathogenic |
— |
| RS2538025130 |
CNGB3
|
Health Risk |
Likely pathogenic |
— |
| RS2538025358 |
PGM3
|
Health Risk |
Pathogenic |
Immunodeficiency 23, Immunodeficiency 23 |
| RS2538027505 |
CNGB3
|
Health Risk |
Likely pathogenic |
— |
| RS2538027675 |
CNGB3
|
Health Risk |
Pathogenic |
— |
| RS2538028093 |
CNGB3
|
Health Risk |
Pathogenic |
— |
| RS2538028854 |
CNGB3
|
Health Risk |
Likely pathogenic |
Achromatopsia 3, Achromatopsia 3 |
| RS2538029549 |
ABCA1
|
Health Risk |
Likely pathogenic |
— |
| RS2538030826 |
RECQL4
|
Health Risk |
Pathogenic |
Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2538031872 |
RECQL4
|
Health Risk |
Pathogenic |
Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2538032464 |
RECQL4
|
Health Risk |
Pathogenic |
Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2538035560 |
RECQL4
|
Health Risk |
Likely pathogenic |
Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2538037515 |
RECQL4
|
Health Risk |
Pathogenic |
Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2538038465 |
RECQL4
|
Health Risk |
Pathogenic |
Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2538040664 |
PTCH1
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2538040944 |
PTCH1
|
Health Risk |
Pathogenic |
Gorlin syndrome, Gorlin syndrome |
| RS2538041118 |
PTCH1
|
Health Risk |
Likely pathogenic |
Basal cell nevus syndrome 1, Basal cell nevus syndrome 1 |
| RS2538041856 |
RECQL4
|
Health Risk |
Pathogenic |
Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2538042150 |
NDRG1
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease type 4D, Charcot-Marie-Tooth disease type 4D |
| RS2538045216 |
RECQL4
|
Health Risk |
Pathogenic |
Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2538046041 |
RECQL4
|
Health Risk |
Likely pathogenic |
Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2538048423 |
DNAAF11
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 19, Primary ciliary dyskinesia 19 |
| RS2538050013 |
NDRG1
|
Health Risk |
Likely pathogenic |
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2538050102 |
NDRG1
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2538050109 |
NDRG1
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2538050254 |
NDRG1
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2538052211 |
RECQL4
|
Health Risk |
Likely pathogenic |
Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2538053242 |
EYA1
|
Health Risk |
Pathogenic |
Melnick-Fraser syndrome, Melnick-Fraser syndrome |
| RS2538054085 |
RECQL4
|
Health Risk |
Pathogenic |
Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2538054464 |
EYA1
|
Health Risk |
Pathogenic |
Melnick-Fraser syndrome, Melnick-Fraser syndrome |
| RS2538055619 |
PTCH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2538056280 |
PTCH1
|
Health Risk |
Likely pathogenic |
Holoprosencephaly 7, Holoprosencephaly 7 |
| RS2538056290 |
PTCH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2538056425 |
NDRG1
|
Health Risk |
Likely pathogenic |
Charcot-Marie-Tooth disease type 4D, Ovarian serous cystadenocarcinoma |
| RS2538057208 |
EYA1
|
Health Risk |
Pathogenic |
— |
| RS2538057578 |
PTCH1
|
Health Risk |
Pathogenic |
Gorlin syndrome, Gorlin syndrome |
| RS2538057887 |
CNGB3
|
Health Risk |
Pathogenic |
— |
| RS2538059415 |
RECQL4
|
Health Risk |
Pathogenic |
Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2538059618 |
NDRG1
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2538059787 |
RECQL4
|
Health Risk |
Pathogenic |
Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2538062813 |
RECQL4
|
Health Risk |
Pathogenic |
Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2538063597 |
RECQL4
|
Health Risk |
Pathogenic |
Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2538063958 |
RECQL4
|
Health Risk |
Conflicting classifications of pathogenicity |
Baller-Gerold syndrome, Inborn genetic diseases |
| RS2538064471 |
CNGB3
|
Health Risk |
Pathogenic |
— |
| RS2538064552 |
CNGB3
|
Health Risk |
Likely pathogenic |
Achromatopsia 3, Achromatopsia 3 |
| RS2538065073 |
VPS13A
|
Health Risk |
Pathogenic |
— |
| RS2538065578 |
RECQL4
|
Health Risk |
Pathogenic |
Baller-Gerold syndrome, Baller-Gerold syndrome |
| RS2538065718 |
VPS13A
|
Health Risk |
Pathogenic |
— |
| RS2538066395 |
VPS13A
|
Health Risk |
Likely pathogenic |
— |
| RS2538066459 |
PGM3
|
Health Risk |
Pathogenic/Likely pathogenic |
Immunodeficiency 23, Immunodeficiency 23 |
| RS2538066579 |
PTCH1
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2538066708 |
PTCH1
|
Health Risk |
Pathogenic |
Gorlin syndrome, Gorlin syndrome |
| RS2538066828 |
PTCH1
|
Health Risk |
Pathogenic |
Gorlin syndrome, Gorlin syndrome |
| RS2538067109 |
PTCH1
|
Health Risk |
Pathogenic |
Gorlin syndrome, Gorlin syndrome |
| RS2538068196 |
PTCH1
|
Health Risk |
Pathogenic |
Gorlin syndrome, Gorlin syndrome |
| RS2538068289 |
PTCH1
|
Health Risk |
Pathogenic |
Gorlin syndrome, Gorlin syndrome |
| RS2538068441 |
PTCH1
|
Health Risk |
Pathogenic |
Gorlin syndrome, Gorlin syndrome |
| RS2538068814 |
AUH
|
Health Risk |
Likely pathogenic |
— |
| RS2538069177 |
PTCH1
|
Health Risk |
Pathogenic |
Gorlin syndrome, Gorlin syndrome |
| RS2538069355 |
AUH
|
Health Risk |
Pathogenic |
3-methylglutaconic aciduria type 1, 3-methylglutaconic aciduria type 1 |
| RS2538069534 |
NDRG1
|
Health Risk |
Likely pathogenic |
Charcot-Marie-Tooth disease type 4D, Charcot-Marie-Tooth disease type 4D |
| RS2538069658 |
PTCH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2538069724 |
PTCH1
|
Health Risk |
Pathogenic |
Gorlin syndrome, Gorlin syndrome |