| RS2511840217 |
LOXHD1
|
Health Risk |
Pathogenic |
— |
| RS2511849287 |
HNF1B
|
Health Risk |
Pathogenic |
Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome |
| RS2511849321 |
HNF1B
|
Health Risk |
Pathogenic |
Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome |
| RS2511849369 |
HNF1B
|
Health Risk |
Pathogenic |
Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome |
| RS2511849648 |
HNF1B
|
Health Risk |
Pathogenic |
Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome |
| RS2511850178 |
LOXHD1
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77 |
| RS2511850184 |
HNF1B
|
Health Risk |
Pathogenic |
Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome |
| RS2511850271 |
HNF1B
|
Health Risk |
Pathogenic |
Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome |
| RS2511850638 |
HNF1B
|
Health Risk |
Pathogenic |
Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome |
| RS2511850713 |
HNF1B
|
Health Risk |
Likely pathogenic |
Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome |
| RS2511850885 |
HNF1B
|
Health Risk |
Likely pathogenic |
Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome |
| RS2511850923 |
HNF1B
|
Health Risk |
Pathogenic |
Renal cysts and diabetes syndrome, Type 2 diabetes mellitus |
| RS2511851192 |
HNF1B
|
Health Risk |
Pathogenic |
Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome |
| RS2511851224 |
HNF1B
|
Health Risk |
Likely pathogenic |
Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome |
| RS2511851289 |
HNF1B
|
Health Risk |
Pathogenic |
Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome |
| RS2511851366 |
HNF1B
|
Health Risk |
Pathogenic |
Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome |
| RS2511852099 |
HNF1B
|
Health Risk |
Pathogenic |
Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome |
| RS2511852788 |
HNF1B
|
Health Risk |
Pathogenic |
Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome |
| RS2511853093 |
HNF1B
|
Health Risk |
Pathogenic |
Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome |
| RS2511853625 |
HNF1B
|
Health Risk |
Pathogenic |
— |
| RS2511853681 |
HNF1B
|
Health Risk |
Pathogenic |
Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome |
| RS2511853757 |
HNF1B
|
Health Risk |
Pathogenic |
Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome |
| RS2511858596 |
LOXHD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77 |
| RS2511858906 |
LOXHD1
|
Health Risk |
Pathogenic |
— |
| RS2511863413 |
EPG5
|
Health Risk |
Likely pathogenic |
Vici syndrome, Vici syndrome |
| RS2511864902 |
LOXHD1
|
Health Risk |
Pathogenic |
— |
| RS2511867200 |
RTTN
|
Health Risk |
Pathogenic |
Microcephalic primordial dwarfism due to RTTN deficiency, Microcephalic primordial dwarfism due to RTTN deficiency |
| RS2511868254 |
GREB1L
|
Health Risk |
Likely pathogenic |
GREB1L-related disorder, GREB1L-related disorder |
| RS2511868697 |
GREB1L
|
Health Risk |
Likely pathogenic |
Renal hypodysplasia/aplasia 3, Renal hypodysplasia/aplasia 3 |
| RS2511868849 |
GREB1L
|
Health Risk |
Likely pathogenic |
Renal hypodysplasia/aplasia 3, Renal hypodysplasia/aplasia 3 |
| RS2511869120 |
EPG5
|
Health Risk |
Pathogenic |
Vici syndrome, Vici syndrome |
| RS2511869355 |
EPG5
|
Health Risk |
Likely pathogenic |
Vici syndrome, Vici syndrome |
| RS2511877334 |
ATP8B1
|
Health Risk |
Likely pathogenic |
Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1 |
| RS2511877565 |
ATP8B1
|
Health Risk |
Pathogenic |
— |
| RS2511882555 |
LOXHD1
|
Health Risk |
Likely pathogenic |
— |
| RS2511882803 |
LOXHD1
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77 |
| RS2511883378 |
LOXHD1
|
Health Risk |
Pathogenic |
— |
| RS2511885141 |
EPG5
|
Health Risk |
Likely pathogenic |
Vici syndrome, Vici syndrome |
| RS2511888943 |
LOXHD1
|
Health Risk |
Pathogenic |
— |
| RS2511888973 |
LOXHD1
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77 |
| RS2511909575 |
EPG5
|
Health Risk |
Pathogenic |
Vici syndrome, Vici syndrome |
| RS2511917113 |
GREB1L
|
Health Risk |
Pathogenic |
— |
| RS2511921909 |
EPG5
|
Health Risk |
Pathogenic |
Vici syndrome, Vici syndrome |
| RS2511924247 |
LOXHD1
|
Health Risk |
Pathogenic |
— |
| RS2511924402 |
LOXHD1
|
Health Risk |
Pathogenic |
— |
| RS2511924466 |
LOXHD1
|
Health Risk |
Pathogenic |
— |
| RS2511924769 |
LOXHD1
|
Health Risk |
Likely pathogenic |
Nonsyndromic genetic hearing loss, Nonsyndromic genetic hearing loss |
| RS2511926945 |
LOXHD1
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77 |
| RS2511931321 |
LOXHD1
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77 |
| RS2511931348 |
TCF4
|
Health Risk |
Pathogenic |
Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2511931672 |
LOXHD1
|
Health Risk |
Likely pathogenic |
— |
| RS2511931791 |
TSHZ1
|
Health Risk |
Likely pathogenic |
Aural atresia, congenital |
| RS2511953554 |
LOXHD1
|
Health Risk |
Pathogenic |
— |
| RS2511953768 |
LOXHD1
|
Health Risk |
Pathogenic |
— |
| RS2511954380 |
EPG5
|
Health Risk |
Pathogenic |
Vici syndrome, Vici syndrome |
| RS2511954898 |
LOXHD1
|
Health Risk |
Pathogenic |
— |
| RS2511955196 |
LOXHD1
|
Health Risk |
Pathogenic |
— |
| RS2511960689 |
LOXHD1
|
Health Risk |
Likely pathogenic |
— |
| RS2511960871 |
LOXHD1
|
Health Risk |
Pathogenic |
— |
| RS2511969825 |
LOXHD1
|
Health Risk |
Pathogenic |
— |
| RS2511978432 |
LOXHD1
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77 |
| RS2511978435 |
LOXHD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Rare genetic deafness, Rare genetic deafness |
| RS2511982267 |
POLRMT
|
Health Risk |
Likely pathogenic |
Combined oxidative phosphorylation deficiency 55, Combined oxidative phosphorylation deficiency 55 |
| RS2511991033 |
RTTN
|
Health Risk |
Likely pathogenic |
— |
| RS2511991321 |
EPG5
|
Health Risk |
Pathogenic |
Vici syndrome, Vici syndrome |
| RS2511993759 |
GREB1L
|
Health Risk |
Likely pathogenic |
GREB1L-related disorder, GREB1L-related disorder |
| RS2511993857 |
GREB1L
|
Health Risk |
Likely pathogenic |
Renal hypodysplasia/aplasia 3, Renal hypodysplasia/aplasia 3 |
| RS2511996791 |
LOXHD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77 |
| RS2511996792 |
LOXHD1
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77 |
| RS2511996855 |
LOXHD1
|
Health Risk |
Pathogenic |
— |
| RS2511996859 |
LOXHD1
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77 |
| RS2511996874 |
LOXHD1
|
Health Risk |
Pathogenic |
— |
| RS2511999710 |
LOXHD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77 |
| RS2512007723 |
LOXHD1
|
Health Risk |
Likely pathogenic |
— |
| RS2512014671 |
AMH
|
Health Risk |
Likely pathogenic |
Persistent Mullerian duct syndrome, Persistent Mullerian duct syndrome |
| RS2512026335 |
RTTN
|
Health Risk |
Pathogenic |
— |
| RS2512026606 |
RTTN
|
Health Risk |
Pathogenic |
— |
| RS2512030033 |
GREB1L
|
Health Risk |
Pathogenic |
Mayer-Rokitansky-Küster-Hauser syndrome type 2, Mayer-Rokitansky-Küster-Hauser syndrome type 2 |
| RS2512046039 |
EPG5
|
Health Risk |
Pathogenic |
Vici syndrome, Vici syndrome |
| RS2512064510 |
EPG5
|
Health Risk |
Pathogenic |
Vici syndrome, Vici syndrome |
| RS2512064752 |
EPG5
|
Health Risk |
Conflicting classifications of pathogenicity |
Vici syndrome, Vici syndrome |
| RS2512065527 |
TCF4
|
Health Risk |
Pathogenic |
Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2512073756 |
EPG5
|
Health Risk |
Likely pathogenic |
— |
| RS2512074031 |
EPG5
|
Health Risk |
Pathogenic |
Vici syndrome, Vici syndrome |
| RS2512085619 |
RTTN
|
Health Risk |
Pathogenic |
— |
| RS2512090754 |
EPG5
|
Health Risk |
Likely pathogenic |
Vici syndrome, Vici syndrome |
| RS2512096499 |
GNA11
|
Health Risk |
Likely pathogenic |
— |
| RS2512108021 |
TCF4
|
Health Risk |
Pathogenic |
Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2512110932 |
TCF4
|
Health Risk |
Pathogenic |
Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS2512111219 |
TCF4
|
Health Risk |
Pathogenic |
TCF4-related disorder, TCF4-related disorder |
| RS2512124332 |
EPG5
|
Health Risk |
Likely pathogenic |
EPG5-related disorder, EPG5-related disorder |
| RS2512126053 |
EPG5
|
Health Risk |
Pathogenic |
Vici syndrome, Vici syndrome |
| RS2512127093 |
EPG5
|
Health Risk |
Pathogenic |
Vici syndrome, Vici syndrome |
| RS2512128017 |
EPG5
|
Health Risk |
Pathogenic |
Vici syndrome, Vici syndrome |
| RS2512130199 |
EPG5
|
Health Risk |
Pathogenic |
Vici syndrome, Vici syndrome |
| RS2512130693 |
EPG5
|
Health Risk |
Pathogenic |
Vici syndrome, Vici syndrome |
| RS2512130849 |
KDM4B
|
Health Risk |
Likely pathogenic |
Intellectual developmental disorder, autosomal dominant 65 |
| RS2512130923 |
EPG5
|
Health Risk |
Pathogenic |
Vici syndrome, Vici syndrome |
| RS2512131709 |
EPG5
|
Health Risk |
Pathogenic |
Vici syndrome, Vici syndrome |
| RS2512132869 |
EPG5
|
Health Risk |
Pathogenic |
Vici syndrome, Vici syndrome |