Molecular Genetics Laboratory (Institute for Ophthalmic Research)

General information

Molecular Genetics Laboratory
Institute for Ophthalmic Research
Elfriede-Aulhorn-Str. 5-7
Tuebingen
Baden-Wurttemberg
Germany - 72076
http://www.eye-tuebingen.de/
Organization ID: 22949

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 621

Gene

GeneSubmissionsLast Updated
ABCA436Jan 9, 2020
ADGRV13Jan 9, 2020
AHI11Jan 9, 2020
AHR1Dec 14, 2017
AIPL14Jan 9, 2020
ALMS14Jan 9, 2020
ARL62Jan 9, 2020
ATF68Jun 17, 2015
BBS14Jan 9, 2020
BBS102Jan 9, 2020
BBS122Jan 9, 2020
BBS21Jan 9, 2020
BBS44Jan 9, 2020
BBS71Jan 9, 2020
BEST15Jan 9, 2020
BLOC1S1-RDH51Dec 14, 2017
C10orf1051Jan 9, 2020
CACNA1F4Jan 9, 2020
CACNA2D41Jan 9, 2020
CDH235Jan 9, 2020
CDHR11Aug 21, 2018
CDKL53Jan 9, 2020
CEP2908Jan 9, 2020
CEP782Jan 9, 2020
CERKL4Jan 9, 2020
CFAP4101Jan 9, 2020
CHM6Jan 9, 2020
CLN34Jan 9, 2020
CNGA16Jan 9, 2020
CNGA318Jan 9, 2020
CNGB15Jan 9, 2020
CNGB3111Jan 9, 2020
COL18A11Dec 14, 2017
COL4A51Jan 9, 2020
COL9A21Dec 14, 2017
CRB119Jan 9, 2020
CYGB1Jan 9, 2020
EYS15Jan 9, 2020
FAM161A4Jan 9, 2020
FLVCR12Jan 9, 2020
GALK11Dec 14, 2017
GNAT225Jan 9, 2020
GPHN1Jan 9, 2020
GUCA1A2Jan 9, 2020
IMPDH12Jan 9, 2020
IMPG13Jan 9, 2020
IMPG28Jan 9, 2020
IQCB11Jan 9, 2020
ITGA42Jan 9, 2020
KCNV23Jan 9, 2020
KIAA15491Jan 9, 2020
KIZ1Jan 9, 2020
KLHL71Jan 9, 2020
LCA52Jan 9, 2020
LOC1019271576Jan 9, 2020
LOC1119828691Jan 9, 2020
LOC1128060371Jan 9, 2020
LOC1181427572Jan 9, 2020
LOXL31Jan 9, 2020
LRAT1Jan 9, 2020
MAK2Jan 9, 2020
MERTK4Jan 9, 2020
MYO7A4Jan 9, 2020
NMNAT12Jan 9, 2020
NR2E33Jan 9, 2020
OAT1Jan 9, 2020
OPN1LW1Nov 29, 2017
OPN1MW1Nov 29, 2017
PCARE2Jan 9, 2020
PCYT1A1Jan 9, 2020
PDE6A9Jan 9, 2020
PDE6B21Feb 11, 2021
PDE6B-AS13Feb 11, 2021
PDE6C15Dec 1, 2017
PDE6G1Jan 9, 2020
PHF32Jan 9, 2020
PITPNM31Jan 9, 2020
POC1B1Jan 9, 2020
PRCD1Jan 9, 2020
PROM17Jan 9, 2020
PRPF32Jan 9, 2020
PRPF3116Jan 9, 2020
PRPF85Jan 9, 2020
PRPH210Jan 9, 2020
PXDN1Dec 14, 2017
RBP32Jan 9, 2020
RDH121Jan 9, 2020
RDH51Dec 14, 2017
RHO2Jan 9, 2020
RIMS11Jan 9, 2020
RLBP12Jan 9, 2020
RP19Jan 9, 2020
RP26Jan 9, 2020
RPE655Jan 9, 2020
RPGR36Jan 9, 2020
RPGRIP18Jan 9, 2020
RS13Jan 9, 2020
SAG4Jan 9, 2020
SEMA4A2Jan 9, 2020
SLC19A11Dec 14, 2017
SNRNP2004Jan 9, 2020
SNX101Dec 14, 2017
SPATA71Dec 14, 2017
TOPORS1Jan 9, 2020
TTLL53Jan 9, 2020
TULP13Jan 9, 2020
USH1C3Jan 9, 2020
USH1G1Jan 9, 2020
USH2A54Jan 9, 2020
USH2A-AS18Jan 9, 2020
USH2A-AS25Jan 9, 2020
VCAN1Jan 9, 2020
VCAN-AS11Jan 9, 2020
VPS13B4Jan 9, 2020
VSX21Dec 14, 2017
ZDHHC243Jan 9, 2020

Condition

NameSubmissionsLast Updated
Achromatopsia45Jan 9, 2020
Achromatopsia 398Apr 6, 2017
Achromatopsia 422Dec 3, 2018
Achromatopsia 78Jun 17, 2015
Adrenocorticotropic hormone deficiency4Aug 21, 2018
Alstrom syndrome3Jan 9, 2020
Anophthalmia1Dec 14, 2017
Anterior segment dysgenesis1Dec 14, 2017
Autosomal dominant cone dystrophy with early tritanopia3Feb 2, 2021
Bardet-Biedl syndrome8Jan 9, 2020
Choroidal dystrophy central areolar3Jan 9, 2020
Choroideremia6Jan 9, 2020
Cone dystrophy16Jan 9, 2020
Cone monochromatism1Nov 29, 2017
Cone-rod dystrophy30Jan 9, 2020
Cone-rod dystrophy 151Aug 21, 2018
Cone-rod dystrophy 21May 13, 2015
Cone-rod dystrophy 31Aug 21, 2018
Congenital stationary night blindness3Jan 9, 2020
Congenital stationary night blindness, type 2A1Aug 21, 2018
Early-onset retinal dystrophy3Dec 14, 2017
Galactokinase deficiency with cataracts1Dec 14, 2017
Infantile nystagmus with foveal hypoplasia1Dec 14, 2017
Infantile osteopetrosis1Dec 14, 2017
Isolated macular dystrophy18Jan 9, 2020
Juvenile retinoschisis3Jan 9, 2020
Knobloch syndrome 11Dec 14, 2017
Leber congenital amaurosis14Jan 9, 2020
Leber congenital amaurosis 42Aug 21, 2018
Leber congenital amaurosis 62Aug 21, 2018
Leber congenital amaurosis 85Aug 21, 2018
Microphthalmia1Dec 14, 2017
Ornithine aminotransferase deficiency2Jan 9, 2020
Pigmentary retinal dystrophy1Dec 14, 2017
Retinitis pigmentosa237Jan 9, 2020
Retinitis pigmentosa 21Aug 21, 2018
Retinitis pigmentosa 4010Feb 11, 2021
Retinitis pigmentosa, juvenile1Dec 14, 2017
Retinitis punctata albescens1Dec 14, 2017
Stargardt disease12Jan 9, 2020
Stickler syndrome2Jan 9, 2020
Sveinsson chorioretinal atrophy1Jan 9, 2020
Usher syndrome1Dec 14, 2017
Usher syndrome type 15Jan 9, 2020
Usher syndrome type 232Jan 9, 2020
Vitelliform macular dystrophy type 28Jan 9, 2020
Wagner syndrome1Jan 9, 2020

Testing in GTR

Disease nameNumber of tests
Achromatopsia1 test
Achromatopsia 21 test
Achromatopsia 31 test
Achromatopsia 41 test
Achromatopsia 51 test
Achromatopsia 61 test
Achromatopsia 71 test
Cone monochromatism1 test
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