Natera, Inc.
General information
Natera, Inc.
201 Industrial Rd, Suite 410
San Carlos
California
United States - 94070
http://www.natera.com/
Organization ID: 500034
201 Industrial Rd, Suite 410
San Carlos
California
United States - 94070
http://www.natera.com/
Organization ID: 500034
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 36202
Gene
Gene | Submissions | Last Updated |
---|---|---|
ABCB11 | 76 | Feb 9, 2022 |
ABCC8 | 197 | Feb 9, 2022 |
ABCD1 | 91 | Feb 9, 2022 |
ACAD9 | 61 | Feb 9, 2022 |
ACADM | 126 | Feb 9, 2022 |
ACADVL | 145 | Feb 9, 2022 |
ACAT1 | 57 | Feb 9, 2022 |
ACOX1 | 43 | Feb 9, 2022 |
ACSF3 | 152 | Feb 9, 2022 |
ACYP1 | 2 | Dec 28, 2020 |
ADA | 80 | Feb 9, 2022 |
ADAMTS2 | 252 | Feb 9, 2022 |
ADGRG1 | 62 | Feb 9, 2022 |
AGA | 50 | Feb 9, 2022 |
AGA-DT | 10 | Feb 9, 2022 |
AGL | 328 | Feb 9, 2022 |
AGPS | 39 | Feb 9, 2022 |
AGXT | 68 | Feb 9, 2022 |
AIRE | 173 | Feb 9, 2022 |
ALDH3A2 | 34 | Feb 9, 2022 |
ALDOB | 39 | Feb 9, 2022 |
ALG11 | 2 | Dec 28, 2020 |
ALG6 | 39 | Feb 9, 2022 |
ALMS1 | 626 | Feb 9, 2022 |
ALPL | 87 | Feb 9, 2022 |
AMT | 75 | Feb 9, 2022 |
AOPEP | 205 | Feb 9, 2022 |
APBB1 | 2 | Dec 28, 2020 |
AQP2 | 26 | Feb 9, 2022 |
AQP5-AS1 | 12 | Feb 9, 2022 |
ARSA | 91 | Feb 9, 2022 |
ARSB | 57 | Feb 9, 2022 |
ASL | 80 | Feb 9, 2022 |
ASNS | 32 | Feb 9, 2022 |
ASPA | 41 | Feb 9, 2022 |
ASS1 | 103 | Feb 9, 2022 |
ATM | 1270 | Feb 9, 2022 |
ATP6V1B1 | 62 | Feb 9, 2022 |
ATP6V1B1-AS1 | 1 | Dec 28, 2020 |
ATP7A | 119 | Feb 9, 2022 |
ATP7B | 293 | Feb 9, 2022 |
ATRX | 167 | Feb 9, 2022 |
AXDND1 | 15 | Feb 9, 2022 |
BBS1 | 121 | Feb 9, 2022 |
BBS10 | 95 | Feb 9, 2022 |
BBS12 | 97 | Feb 9, 2022 |
BBS2 | 101 | Feb 9, 2022 |
BBS4 | 1 | Dec 28, 2020 |
BCKDHA | 83 | Feb 9, 2022 |
BCKDHB | 62 | Feb 9, 2022 |
BCS1L | 31 | Feb 9, 2022 |
BLM | 650 | Feb 9, 2022 |
BRAF | 1 | Dec 28, 2020 |
BSND | 44 | Feb 9, 2022 |
BTD | 69 | Feb 9, 2022 |
C10orf105 | 76 | Feb 9, 2022 |
C11orf65 | 403 | Feb 9, 2022 |
C17orf107 | 70 | Feb 9, 2022 |
CAPN3 | 223 | Feb 9, 2022 |
CARD14 | 1 | Dec 28, 2020 |
CBS | 152 | Feb 9, 2022 |
CCDC107 | 1 | Dec 28, 2020 |
CCDC40 | 1 | Dec 28, 2020 |
CDH23 | 747 | Feb 9, 2022 |
CDH23-AS1 | 27 | Feb 9, 2022 |
CDKL5 | 17 | Feb 9, 2022 |
CEP290 | 399 | Feb 9, 2022 |
CERKL | 101 | Feb 9, 2022 |
CFAP92 | 10 | Feb 9, 2022 |
CFTR | 904 | Feb 9, 2022 |
CFTR-AS1 | 88 | Feb 9, 2022 |
CHM | 49 | Feb 9, 2022 |
CHPT1 | 4 | Feb 9, 2022 |
CHRNE | 137 | Feb 9, 2022 |
CIITA | 243 | Feb 9, 2022 |
CLN3 | 27 | Dec 28, 2020 |
CLN5 | 114 | Feb 9, 2022 |
CLN8 | 82 | Feb 9, 2022 |
CLRN1 | 35 | Feb 9, 2022 |
CLRN1-AS1 | 4 | Dec 28, 2020 |
CNGB3 | 143 | Feb 9, 2022 |
COL4A3 | 159 | Feb 9, 2022 |
COL4A4 | 175 | Feb 9, 2022 |
COL4A5 | 92 | Feb 9, 2022 |
COL7A1 | 419 | Feb 9, 2022 |
CP | 21 | Feb 9, 2022 |
CPS1 | 135 | Feb 9, 2022 |
CPT1A | 106 | Feb 9, 2022 |
CPT2 | 131 | Feb 9, 2022 |
CRB1 | 156 | Feb 9, 2022 |
CTNS | 66 | Feb 9, 2022 |
CTNS-AS1 | 31 | Feb 9, 2022 |
CTSK | 19 | Feb 9, 2022 |
CYBA | 74 | Feb 9, 2022 |
CYBB | 52 | Feb 9, 2022 |
CYP11B2 | 84 | Feb 9, 2022 |
CYP17A1 | 37 | Feb 9, 2022 |
CYP17A1-AS1 | 2 | Feb 9, 2022 |
CYP19A1 | 44 | Feb 9, 2022 |
CYP27A1 | 93 | Feb 9, 2022 |
CZ1P-ASNS | 32 | Feb 9, 2022 |
DBT | 2 | Dec 28, 2020 |
DCLRE1C | 121 | Feb 9, 2022 |
DHCR7 | 143 | Feb 9, 2022 |
DHDDS | 31 | Feb 9, 2022 |
DLD | 43 | Feb 9, 2022 |
DLG4 | 2 | Feb 9, 2022 |
DMD | 1208 | Feb 9, 2022 |
DNAH5 | 596 | Feb 9, 2022 |
DNAI1 | 104 | Feb 9, 2022 |
DNAI2 | 105 | Feb 9, 2022 |
DVL2 | 1 | Feb 9, 2022 |
DYSF | 530 | Feb 9, 2022 |
EDA | 23 | Feb 9, 2022 |
EIF2B5 | 40 | Feb 9, 2022 |
ELP1 | 401 | Feb 9, 2022 |
EMD | 54 | Feb 9, 2022 |
ESCO2 | 43 | Feb 9, 2022 |
ETFA | 35 | Feb 9, 2022 |
ETFDH | 86 | Feb 9, 2022 |
ETHE1 | 35 | Feb 9, 2022 |
EVC | 141 | Feb 9, 2022 |
EVC2 | 1 | Dec 28, 2020 |
EYS | 625 | Feb 9, 2022 |
F11 | 70 | Feb 9, 2022 |
F11-AS1 | 16 | Feb 9, 2022 |
F5 | 1 | Dec 28, 2020 |
F9 | 40 | Feb 9, 2022 |
FAH | 81 | Feb 9, 2022 |
FAM161A | 108 | Feb 9, 2022 |
FANCA | 553 | Feb 9, 2022 |
FANCC | 287 | Feb 9, 2022 |
FANCG | 94 | Feb 9, 2022 |
FBXL3 | 63 | Feb 9, 2022 |
FH | 147 | Feb 9, 2022 |
FKRP | 131 | Feb 9, 2022 |
FKTN | 109 | Feb 9, 2022 |
FMR1 | 5 | Feb 9, 2022 |
FRAXA | 1 | Feb 9, 2022 |
G6PC1 | 66 | Feb 9, 2022 |
GAA | 416 | Feb 9, 2022 |
GALC | 123 | Feb 9, 2022 |
GALK1 | 41 | Feb 9, 2022 |
GALT | 105 | Feb 9, 2022 |
GAMT | 91 | Feb 9, 2022 |
GAREM2 | 47 | Feb 9, 2022 |
GATAD1 | 58 | Feb 9, 2022 |
GBA1 | 60 | Feb 9, 2022 |
GBE1 | 74 | Feb 9, 2022 |
GCDH | 83 | Feb 9, 2022 |
GFM1 | 55 | Feb 9, 2022 |
GJB1 | 33 | Feb 9, 2022 |
GJB2 | 103 | Feb 9, 2022 |
GLA | 44 | Feb 9, 2022 |
GLDC | 215 | Feb 9, 2022 |
GLE1 | 37 | Feb 9, 2022 |
GML | 5 | Feb 9, 2022 |
GNE | 89 | Feb 9, 2022 |
GNPTAB | 141 | Feb 9, 2022 |
GNPTG | 112 | Feb 9, 2022 |
GNS | 39 | Feb 9, 2022 |
GPHN | 74 | Feb 9, 2022 |
GRHPR | 52 | Feb 9, 2022 |
HADHA | 79 | Feb 9, 2022 |
HAX1 | 45 | Feb 9, 2022 |
HBA1 | 22 | Feb 9, 2022 |
HBA2 | 34 | Feb 9, 2022 |
HBB | 135 | Feb 9, 2022 |
HEXA | 114 | Feb 9, 2022 |
HEXB | 55 | Feb 9, 2022 |
HGSNAT | 104 | Feb 9, 2022 |
HJV | 21 | Feb 9, 2022 |
HLCS | 74 | Feb 9, 2022 |
HMGCL | 51 | Feb 9, 2022 |
HNRNPH2 | 2 | Feb 9, 2022 |
HOGA1 | 49 | Feb 9, 2022 |
HPS1 | 93 | Feb 9, 2022 |
HPS3 | 67 | Feb 9, 2022 |
HSD17B4 | 62 | Feb 9, 2022 |
HSD3B2 | 42 | Feb 9, 2022 |
HYAL1 | 24 | Feb 9, 2022 |
HYLS1 | 24 | Feb 9, 2022 |
IDS | 58 | Feb 9, 2022 |
IDUA | 193 | Feb 9, 2022 |
IL2RG | 37 | Feb 9, 2022 |
INS | 2 | Dec 28, 2020 |
ITGA4 | 1 | Feb 9, 2022 |
ITGB4 | 1 | Feb 9, 2022 |
IVD | 72 | Feb 9, 2022 |
KCNJ11 | 47 | Feb 9, 2022 |
KIRREL2 | 14 | Feb 9, 2022 |
LCA5 | 102 | Feb 9, 2022 |
LDLR | 196 | Feb 9, 2022 |
LDLR-AS1 | 8 | Feb 9, 2022 |
LDLRAP1 | 49 | Feb 9, 2022 |
LHX3 | 28 | Feb 9, 2022 |
LIFR | 59 | Feb 9, 2022 |
LIPA | 53 | Feb 9, 2022 |
LOC101929270 | 11 | Feb 9, 2022 |
LOC105378311 | 4 | Feb 9, 2022 |
LOC106050102 | 36 | Feb 9, 2022 |
LOC106099062 | 108 | Feb 9, 2022 |
LOC106627981 | 56 | Feb 9, 2022 |
LOC106799834 | 84 | Feb 9, 2022 |
LOC106804612 | 34 | Feb 9, 2022 |
LOC106804613 | 20 | Feb 9, 2022 |
LOC107032825 | 1 | Feb 9, 2022 |
LOC107133510 | 135 | Feb 9, 2022 |
LOC107303343 | 13 | Feb 9, 2022 |
LOC107457585 | 7 | Feb 9, 2022 |
LOC107882126 | 3 | Feb 9, 2022 |
LOC109029530 | 4 | Feb 9, 2022 |
LOC110006319 | 29 | Feb 9, 2022 |
LOC110121471 | 2 | Dec 28, 2020 |
LOC110386951 | 1 | Dec 28, 2020 |
LOC111674463 | 7 | Feb 9, 2022 |
LOC111674472 | 72 | Feb 9, 2022 |
LOC111674475 | 28 | Feb 9, 2022 |
LOC111674477 | 36 | Feb 9, 2022 |
LOC111982869 | 7 | Feb 9, 2022 |
LOC112136095 | 3 | Dec 28, 2020 |
LOC112272621 | 4 | Feb 9, 2022 |
LOC112486223 | 31 | Feb 9, 2022 |
LOC113633875 | 1 | Dec 28, 2020 |
LOC113633877 | 3 | Feb 9, 2022 |
LOC113664106 | 8 | Feb 9, 2022 |
LOC113687175 | 6 | Feb 9, 2022 |
LOC117125594 | 8 | Feb 9, 2022 |
LOC121815974 | 4 | Feb 9, 2022 |
LOC122152296 | 19 | Feb 9, 2022 |
LOC122787137 | 4 | Feb 9, 2022 |
LOC123956210 | 15 | Feb 9, 2022 |
LOC125177393 | 14 | Feb 9, 2022 |
LOC125446261 | 5 | Feb 9, 2022 |
LOC126806252 | 35 | Feb 9, 2022 |
LOC126806373 | 14 | Feb 9, 2022 |
LOC126806400 | 2 | Feb 9, 2022 |
LOC126806807 | 1 | Feb 9, 2022 |
LOC126807318 | 7 | Feb 9, 2022 |
LOC126859690 | 26 | Feb 9, 2022 |
LOC126860438 | 11 | Feb 9, 2022 |
LOC126860531 | 13 | Feb 9, 2022 |
LOC126861244 | 7 | Feb 9, 2022 |
LOC126861615 | 8 | Feb 9, 2022 |
LOC126862097 | 2 | Feb 9, 2022 |
LOC126862115 | 8 | Feb 9, 2022 |
LOC126862264 | 52 | Feb 9, 2022 |
LOC126862361 | 8 | Feb 9, 2022 |
LOC126862860 | 5 | Feb 9, 2022 |
LOC126863274 | 4 | Feb 9, 2022 |
LOC129388857 | 2 | Dec 28, 2020 |
LOC129390514 | 4 | Feb 9, 2022 |
LOC129390683 | 1 | Dec 28, 2020 |
LOC129391064 | 5 | Feb 9, 2022 |
LOC129391306 | 5 | Feb 9, 2022 |
LOC129929773 | 6 | Feb 9, 2022 |
LOC129930245 | 1 | Dec 28, 2020 |
LOC129930446 | 17 | Feb 9, 2022 |
LOC129930561 | 10 | Feb 9, 2022 |
LOC129931648 | 4 | Feb 9, 2022 |
LOC129933372 | 1 | Feb 9, 2022 |
LOC129933843 | 9 | Feb 9, 2022 |
LOC129935172 | 13 | Feb 9, 2022 |
LOC129935214 | 5 | Feb 9, 2022 |
LOC129935215 | 7 | Feb 9, 2022 |
LOC129935730 | 5 | Feb 9, 2022 |
LOC129936056 | 9 | Feb 9, 2022 |
LOC129936949 | 2 | Feb 9, 2022 |
LOC129938008 | 1 | Feb 9, 2022 |
LOC129992144 | 1 | Dec 28, 2020 |
LOC129992330 | 1 | Feb 9, 2022 |
LOC129992585 | 11 | Feb 9, 2022 |
LOC129994126 | 15 | Feb 9, 2022 |
LOC129994460 | 2 | Feb 9, 2022 |
LOC129996727 | 6 | Dec 28, 2020 |
LOC129998796 | 5 | Feb 9, 2022 |
LOC129998833 | 1 | Dec 28, 2020 |
LOC130000316 | 10 | Feb 9, 2022 |
LOC130001683 | 7 | Feb 9, 2022 |
LOC130005193 | 5 | Feb 9, 2022 |
LOC130006596 | 9 | Feb 9, 2022 |
LOC130006765 | 3 | Feb 9, 2022 |
LOC130009240 | 5 | Feb 9, 2022 |
LOC130009366 | 9 | Feb 9, 2022 |
LOC130009838 | 3 | Feb 9, 2022 |
LOC130009913 | 20 | Feb 9, 2022 |
LOC130055323 | 4 | Feb 9, 2022 |
LOC130055324 | 1 | Feb 9, 2022 |
LOC130056217 | 4 | Feb 9, 2022 |
LOC130056519 | 6 | Feb 9, 2022 |
LOC130056921 | 3 | Feb 9, 2022 |
LOC130057734 | 2 | Feb 9, 2022 |
LOC130057891 | 11 | Feb 9, 2022 |
LOC130058158 | 23 | Feb 9, 2022 |
LOC130058443 | 3 | Feb 9, 2022 |
LOC130059837 | 8 | Feb 9, 2022 |
LOC130060040 | 9 | Feb 9, 2022 |
LOC130060041 | 17 | Feb 9, 2022 |
LOC130060113 | 11 | Feb 9, 2022 |
LOC130060903 | 6 | Feb 9, 2022 |
LOC130061271 | 6 | Feb 9, 2022 |
LOC130061900 | 2 | Dec 28, 2020 |
LOC130062945 | 17 | Feb 9, 2022 |
LOC130063376 | 2 | Feb 9, 2022 |
LOC130063650 | 5 | Feb 9, 2022 |
LOC130064595 | 7 | Feb 9, 2022 |
LOC130064709 | 2 | Dec 28, 2020 |
LOC130065433 | 10 | Feb 9, 2022 |
LOC130066813 | 5 | Feb 9, 2022 |
LOC130067862 | 28 | Feb 9, 2022 |
LOC130067864 | 2 | Dec 28, 2020 |
LOC130068093 | 4 | Feb 9, 2022 |
LOC130068458 | 2 | Feb 9, 2022 |
LOC130068781 | 2 | Feb 9, 2022 |
LOC132090059 | 3 | Dec 28, 2020 |
LOC132090450 | 5 | Feb 9, 2022 |
LOXHD1 | 246 | Feb 9, 2022 |
LPL | 54 | Feb 9, 2022 |
LRPPRC | 85 | Feb 9, 2022 |
MAN2B1 | 117 | Feb 9, 2022 |
MCCC1 | 105 | Feb 9, 2022 |
MCCC2 | 82 | Feb 9, 2022 |
MCOLN1 | 90 | Feb 9, 2022 |
MED17 | 44 | Feb 9, 2022 |
MEFV | 213 | Feb 9, 2022 |
MESP2 | 49 | Feb 9, 2022 |
MFF-DT | 154 | Feb 9, 2022 |
MFSD8 | 95 | Feb 9, 2022 |
MINK1 | 1 | Dec 28, 2020 |
MIR4685 | 1 | Dec 28, 2020 |
MIR4713HG | 44 | Feb 9, 2022 |
MIR6886 | 1 | Dec 28, 2020 |
MIR711 | 3 | Feb 9, 2022 |
MKS1 | 109 | Feb 9, 2022 |
MLC1 | 50 | Feb 9, 2022 |
MMAA | 54 | Feb 9, 2022 |
MMAB | 69 | Feb 9, 2022 |
MMACHC | 93 | Feb 9, 2022 |
MMADHC | 29 | Feb 9, 2022 |
MMUT | 103 | Feb 9, 2022 |
MPI | 48 | Feb 9, 2022 |
MPL | 52 | Feb 9, 2022 |
MPV17 | 20 | Feb 9, 2022 |
MRPL36 | 1 | Dec 28, 2020 |
MTHFR | 69 | Feb 9, 2022 |
MTM1 | 41 | Feb 9, 2022 |
MTRR | 80 | Feb 9, 2022 |
MTTP | 95 | Feb 9, 2022 |
MVK | 16 | Feb 9, 2022 |
MYO7A | 550 | Feb 9, 2022 |
NADSYN1 | 2 | Dec 28, 2020 |
NAGLU | 74 | Feb 9, 2022 |
NAGS | 38 | Feb 9, 2022 |
NBN | 291 | Feb 9, 2022 |
NDRG1 | 108 | Feb 9, 2022 |
NDUFAF5 | 51 | Feb 9, 2022 |
NDUFS6 | 14 | Feb 9, 2022 |
NDUFS7 | 2 | Dec 28, 2020 |
NEB | 1315 | Feb 9, 2022 |
NICN1 | 7 | Feb 9, 2022 |
NPC1 | 151 | Feb 9, 2022 |
NPC2 | 19 | Feb 9, 2022 |
NPHS1 | 145 | Feb 9, 2022 |
NPHS2 | 47 | Feb 9, 2022 |
NR2E3 | 127 | Feb 9, 2022 |
NTRK1 | 201 | Feb 9, 2022 |
OAT | 55 | Feb 9, 2022 |
OPA3 | 11 | Feb 9, 2022 |
OSGIN2 | 2 | Feb 9, 2022 |
OTC | 37 | Feb 9, 2022 |
PAH | 168 | Feb 9, 2022 |
PCCA | 91 | Feb 9, 2022 |
PCCB | 75 | Feb 9, 2022 |
PCDH15 | 346 | Feb 9, 2022 |
PDHA1 | 28 | Feb 9, 2022 |
PDHB | 22 | Feb 9, 2022 |
PEX1 | 203 | Feb 9, 2022 |
PEX10 | 85 | Feb 9, 2022 |
PEX2 | 43 | Feb 9, 2022 |
PEX6 | 129 | Feb 9, 2022 |
PEX7 | 56 | Feb 9, 2022 |
PFKM | 51 | Feb 9, 2022 |
PGK1 | 2 | Feb 9, 2022 |
PHF3 | 66 | Feb 9, 2022 |
PHGDH | 49 | Feb 9, 2022 |
PIRC66 | 44 | Feb 9, 2022 |
PKHD1 | 612 | Feb 9, 2022 |
PLCH2 | 3 | Feb 9, 2022 |
PMM2 | 70 | Feb 9, 2022 |
POMGNT1 | 144 | Feb 9, 2022 |
PPT1 | 73 | Feb 9, 2022 |
PROP1 | 32 | Feb 9, 2022 |
PSAP | 85 | Feb 9, 2022 |
PTS | 26 | Feb 9, 2022 |
PUS1 | 39 | Feb 9, 2022 |
PUS3 | 24 | Feb 9, 2022 |
PYGM | 139 | Feb 9, 2022 |
PYY | 13 | Feb 9, 2022 |
RAB23 | 20 | Feb 9, 2022 |
RAG2 | 73 | Feb 9, 2022 |
RAPSN | 109 | Feb 9, 2022 |
RARS2 | 55 | Feb 9, 2022 |
RBM48 | 1 | Dec 28, 2020 |
RDH12 | 74 | Feb 9, 2022 |
RIF1 | 238 | Feb 9, 2022 |
RLIG1 | 13 | Feb 9, 2022 |
RMRP | 164 | Feb 9, 2022 |
RPE65 | 91 | Feb 9, 2022 |
RPGRIP1L | 221 | Feb 9, 2022 |
RPL36A-HNRNPH2 | 44 | Feb 9, 2022 |
RS1 | 22 | Feb 9, 2022 |
RTEL1 | 359 | Feb 9, 2022 |
RTEL1-TNFRSF6B | 359 | Feb 9, 2022 |
SACS | 390 | Feb 9, 2022 |
SAMHD1 | 63 | Feb 9, 2022 |
SCO2 | 29 | Feb 9, 2022 |
SEPSECS | 37 | Feb 9, 2022 |
SGCA | 88 | Feb 9, 2022 |
SGCB | 51 | Feb 9, 2022 |
SGCG | 65 | Feb 9, 2022 |
SGSH | 104 | Feb 9, 2022 |
SLC12A3 | 145 | Feb 9, 2022 |
SLC12A6 | 85 | Feb 9, 2022 |
SLC17A5 | 40 | Feb 9, 2022 |
SLC22A5 | 232 | Mar 22, 2022 |
SLC25A13 | 58 | Feb 9, 2022 |
SLC25A15 | 33 | Feb 9, 2022 |
SLC26A1 | 32 | Feb 9, 2022 |
SLC26A11 | 3 | Dec 28, 2020 |
SLC26A2 | 48 | Feb 9, 2022 |
SLC26A4 | 150 | Feb 9, 2022 |
SLC26A4-AS1 | 11 | Feb 9, 2022 |
SLC35A1 | 1 | Feb 9, 2022 |
SLC35A3 | 33 | Feb 9, 2022 |
SLC37A4 | 86 | Feb 9, 2022 |
SLC39A4 | 84 | Feb 9, 2022 |
SLC4A11 | 103 | Feb 9, 2022 |
SLC6A8 | 52 | Feb 9, 2022 |
SLC7A7 | 75 | Feb 9, 2022 |
SMARCAL1 | 118 | Feb 9, 2022 |
SMPD1 | 129 | Feb 9, 2022 |
SPATA22 | 41 | Feb 9, 2022 |
STAR | 25 | Feb 9, 2022 |
SUMF1 | 45 | Feb 9, 2022 |
SYCE2 | 5 | Feb 9, 2022 |
TCIRG1 | 138 | Feb 9, 2022 |
TECPR2 | 191 | Feb 9, 2022 |
TFR2 | 78 | Feb 9, 2022 |
TGM1 | 131 | Feb 9, 2022 |
TH | 155 | Feb 9, 2022 |
TLDC2 | 2 | Feb 9, 2022 |
TMEM216 | 32 | Feb 9, 2022 |
TPP1 | 161 | Feb 9, 2022 |
TRMU | 50 | Feb 9, 2022 |
TSFM | 20 | Feb 9, 2022 |
TSPAN1 | 111 | Feb 9, 2022 |
TTPA | 31 | Feb 9, 2022 |
TYMP | 57 | Feb 9, 2022 |
USH1C | 138 | Feb 9, 2022 |
USH2A | 848 | Feb 9, 2022 |
USH2A-AS1 | 60 | Feb 9, 2022 |
USH2A-AS2 | 44 | Feb 9, 2022 |
VCP | 5 | Feb 9, 2022 |
VPS13A | 186 | Feb 9, 2022 |
VPS13B | 638 | Feb 9, 2022 |
VPS45 | 64 | Feb 9, 2022 |
VRK1 | 60 | Feb 9, 2022 |
VSX2 | 30 | Feb 9, 2022 |
WNT10A | 45 | Feb 9, 2022 |
ZDHHC24 | 76 | Feb 9, 2022 |
ZFYVE26 | 20 | Feb 9, 2022 |
ZNF276 | 65 | Feb 9, 2022 |
Condition
Testing in GTR
Disease name | Number of tests |
---|---|
22q partial monosomy | 1 test |
3 beta-Hydroxysteroid dehydrogenase deficiency | 4 tests |
3-Methylglutaconic aciduria type 3 | 6 tests |
3-methylcrotonyl-CoA carboxylase 1 deficiency | 4 tests |
3-methylcrotonyl-CoA carboxylase 2 deficiency | 4 tests |
3-phosphoglycerate dehydrogenase deficiency | 9 tests |
5p partial monosomy syndrome | 1 test |
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | 7 tests |
ALG6-congenital disorder of glycosylation 1C | 4 tests |
Abetalipoproteinaemia | 9 tests |
Achondrogenesis, type IB | 7 tests |
Achromatopsia 3 | 4 tests |
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | 6 tests |
Acyl-CoA dehydrogenase 9 deficiency | 4 tests |
Acyl-CoA oxidase deficiency | 4 tests |
Adrenoleukodystrophy | 7 tests |
Agenesis of the corpus callosum with peripheral neuropathy | 7 tests |
Aicardi Goutieres syndrome | 4 tests |
Alpha thalassemia-intellectual disability syndrome type 1 | 3 tests |
Alstrom syndrome | 4 tests |
Angelman syndrome | 1 test |
Angiokeratoma corporis diffusum | 3 tests |
Anomaly of sex chromosome | 2 tests |
Argininosuccinate lyase deficiency | 7 tests |
Aromatase deficiency | 4 tests |
Aspartylglucosaminuria | 7 tests |
Ataxia-telangiectasia syndrome | 9 tests |
Autism spectrum disorder - epilepsy - arthrogryposis syndrome | 9 tests |
Autosomal chromosomal disorder | 2 tests |
Autosomal dominant Alport syndrome | 9 tests |
Autosomal recessive DOPA responsive dystonia | 7 tests |
Autosomal recessive congenital ichthyosis 1 | 7 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2A | 7 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2B | 6 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2C | 7 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2D | 7 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2E | 7 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2I | 4 tests |
Autosomal recessive nonsyndromic hearing loss 77 | 6 tests |
Autosomal recessive osteopetrosis 1 | 4 tests |
Autosomal recessive polycystic kidney disease | 16 tests |
Bardet-Biedl syndrome 1 | 7 tests |
Bardet-Biedl syndrome 10 | 7 tests |
Bardet-Biedl syndrome 12 | 4 tests |
Bardet-Biedl syndrome 2 | 5 tests |
Bare lymphocyte syndrome type 2, complementation group A | 4 tests |
Bartter syndrome | 4 tests |
Becker muscular dystrophy | 22 tests |
Bifunctional peroxisomal enzyme deficiency | 7 tests |
Bilateral frontoparietal polymicrogyria | 4 tests |
Biotinidase deficiency | 7 tests |
Bloom syndrome | 11 tests |
Carnitine palmitoyl transferase 1A deficiency | 7 tests |
Carnitine palmitoyltransferase II deficiency | 9 tests |
Carpenter syndrome | 4 tests |
Ceroid lipofuscinosis, neuronal, 6A | 7 tests |
Charcot-Marie-Tooth disease | 3 tests |
Charcot-Marie-Tooth disease type 4D | 4 tests |
Charlevoix-Saguenay spastic ataxia | 3 tests |
Cholestanol storage disease | 9 tests |
Chorea-acanthocytosis | 6 tests |
Choroideremia | 3 tests |
Chromosome 1p36 deletion syndrome | 1 test |
Chronic granulomatous disease, autosomal, due to deficiency of CYBA | 6 tests |
Ciliopathy | 4 tests |
Citrin deficiency | 7 tests |
Citrullinemia type I | 11 tests |
Classic homocystinuria | 7 tests |
Cobalamin C disease | 11 tests |
Cohen syndrome | 4 tests |
Combined malonic and methylmalonic acidemia | 4 tests |
Complete trisomy 13 syndrome | 1 test |
Congenital amegakaryocytic thrombocytopenia | 9 tests |
Congenital chromosomal disease | 1 test |
Congenital disorder of glycosylation type I | 2 tests |
Congenital hyperammonemia, type I | 4 tests |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | 7 tests |
Congenital lipoid adrenal hyperplasia due to STAR deficency | 4 tests |
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | 6 tests |
Congenital myasthenic syndrome 4C | 9 tests |
Congenital neutropenia-myelofibrosis-nephromegaly syndrome | 4 tests |
Corneal dystrophy-perceptive deafness syndrome | 4 tests |
Corticosterone 18-monooxygenase deficiency | 6 tests |
Corticosterone methyloxidase type 2 deficiency | 6 tests |
Creatine transporter deficiency | 3 tests |
Cystic fibrosis | 32 tests |
Cystinosis | 9 tests |
Decreased circulating carnitine concentration | 7 tests |
Deficiency of acetyl-CoA acetyltransferase | 4 tests |
Deficiency of alpha-mannosidase | 7 tests |
Deficiency of galactokinase | 4 tests |
Deficiency of guanidinoacetate methyltransferase | 4 tests |
Deficiency of hyaluronoglucosaminidase | 4 tests |
Deficiency of hydroxymethylglutaryl-CoA lyase | 7 tests |
Deficiency of steroid 17-alpha-monooxygenase | 4 tests |
Diabetes insipidus, nephrogenic, autosomal | 4 tests |
Dizygotic twins | 1 test |
Down syndrome | 1 test |
Duchenne muscular dystrophy | 22 tests |
Dyskeratosis congenita, autosomal recessive 5 | 7 tests |
Ehlers-Danlos syndrome, dermatosparaxis type | 9 tests |
Ellis-van Creveld syndrome | 4 tests |
Enhanced S-cone syndrome | 6 tests |
Epidermolysis bullosa dystrophica | 4 tests |
Ethylmalonic encephalopathy | 7 tests |
Familial Mediterranean fever | 6 tests |
Familial dysautonomia | 16 tests |
Familial hypercholesterolemia | 1 test |
Familial hypokalemia-hypomagnesemia | 4 tests |
Familial isolated deficiency of vitamin E | 7 tests |
Fanconi anemia complementation group A | 6 tests |
Fanconi anemia complementation group C | 11 tests |
Fanconi anemia complementation group G | 4 tests |
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | 4 tests |
Finnish congenital nephrotic syndrome | 7 tests |
Fragile X syndrome | 16 tests |
Fumarase deficiency | 7 tests |
GM1 gangliosidosis | 7 tests |
GNE myopathy | 9 tests |
GNPTG-mucolipidosis | 4 tests |
GRACILE syndrome | 7 tests |
Galactose intolerance | 16 tests |
Galactosylceramide beta-galactosidase deficiency | 7 tests |
Gaucher disease | 16 tests |
Glucose-6-phosphate transport defect | 7 tests |
Glutaric acidemia IIa | 4 tests |
Glutaric acidemia IIc | 4 tests |
Glutaric aciduria, type 1 | 7 tests |
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 11 tests |
Glycogen storage disease type III | 9 tests |
Glycogen storage disease, type II | 9 tests |
Glycogen storage disease, type IV | 6 tests |
Glycogen storage disease, type V | 6 tests |
Glycogen storage disease, type VII | 6 tests |
Granulomatous disease, chronic, X-linked | 6 tests |
Hemochromatosis type 2A | 4 tests |
Hemochromatosis type 3 | 4 tests |
Hemoglobinopathy | 16 tests |
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | 4 tests |
Hereditary acrodermatitis enteropathica | 4 tests |
Hereditary disease | 1 test |
Hereditary factor IX deficiency disease | 3 tests |
Hereditary factor XI deficiency disease | 6 tests |
Hereditary fructosuria | 7 tests |
Hereditary insensitivity to pain with anhidrosis | 6 tests |
Hereditary spastic paraplegia 49 | 6 tests |
Hermansky-Pudlak syndrome 1 | 4 tests |
Hermansky-Pudlak syndrome 3 | 9 tests |
Histiocytic medullary reticulosis | 6 tests |
Holocarboxylase synthetase deficiency | 4 tests |
Homocystinuria due to methylene tetrahydrofolate reductase deficiency | 6 tests |
Hydrolethalus syndrome | 4 tests |
Hyperammonemia, type III | 4 tests |
Hypercholesterolemia, familial, 1 | 5 tests |
Hypercholesterolemia, familial, 4 | 4 tests |
Hyperinsulinemic hypoglycemia, familial, 1 | 9 tests |
Hyperinsulinemic hypoglycemia, familial, 2 | 4 tests |
Hyperlipoproteinemia, type I | 4 tests |
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | 7 tests |
Hypohidrotic X-linked ectodermal dysplasia | 3 tests |
Hypophosphatasia | 7 tests |
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly | 4 tests |
Isolated microphthalmia 2 | 6 tests |
Isovaleryl-CoA dehydrogenase deficiency | 11 tests |
Joubert syndrome 2 | 9 tests |
Juvenile retinoschisis | 3 tests |
Kartagener syndrome | 6 tests |
Kidney Transplant Rejection | 1 test |
Kostmann syndrome | 4 tests |
Leber congenital amaurosis | 4 tests |
Leber congenital amaurosis 2 | 6 tests |
Lethal congenital contracture syndrome 1 | 4 tests |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | 7 tests |
Lysinuric protein intolerance | 7 tests |
METHYLMALONIC ACIDURIA, mut(0) TYPE | 4 tests |
MPI-congenital disorder of glycosylation | 7 tests |
Maple syrup urine disease type 1A | 7 tests |
Maple syrup urine disease type 1B | 9 tests |
Meckel syndrome, type 1 | 4 tests |
Meckel syndrome, type 2 | 9 tests |
Medium-chain acyl-coenzyme A dehydrogenase deficiency | 16 tests |
Megalencephalic leukoencephalopathy with subcortical cysts | 9 tests |
Menkes kinky-hair syndrome | 3 tests |
Metachromatic leukodystrophy | 9 tests |
Metaphyseal chondrodysplasia, McKusick type | 7 tests |
Methylcobalamin deficiency type cblE | 4 tests |
Methylmalonic aciduria and homocystinuria type cblD | 4 tests |
Methylmalonic aciduria, cblA type | 4 tests |
Methylmalonic aciduria, cblB type | 4 tests |
Microcephaly, normal intelligence and immunodeficiency | 7 tests |
Miscarriage | 1 test |
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | 4 tests |
Mitochondrial complex I deficiency | 6 tests |
Mitochondrial neurogastrointestinal encephalomyopathy | 6 tests |
Mucolipidosis type IV | 11 tests |
Mucopolysaccharidosis type 1 | 11 tests |
Mucopolysaccharidosis type 6 | 4 tests |
Mucopolysaccharidosis, MPS-II | 3 tests |
Mucopolysaccharidosis, MPS-III-A | 7 tests |
Mucopolysaccharidosis, MPS-III-B | 4 tests |
Mucopolysaccharidosis, MPS-III-C | 4 tests |
Mucopolysaccharidosis, MPS-III-D | 4 tests |
Mucopolysaccharidosis, MPS-IV-B | 7 tests |
Multiple congenital anomalies | 1 test |
Multiple sulfatase deficiency | 9 tests |
Muscle eye brain disease | 7 tests |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | 9 tests |
Myopathy, lactic acidosis, and sideroblastic anemia | 6 tests |
Nemaline myopathy | 9 tests |
Nephrotic syndrome, type 2 | 7 tests |
Neuronal ceroid lipofuscinosis 1 | 7 tests |
Neuronal ceroid lipofuscinosis 2 | 7 tests |
Neuronal ceroid lipofuscinosis 3 | 11 tests |
Neuronal ceroid lipofuscinosis 5 | 7 tests |
Neuronal ceroid lipofuscinosis 7 | 4 tests |
Neuronal ceroid lipofuscinosis 8 | 7 tests |
Niemann-Pick disease, type A | 11 tests |
Niemann-Pick disease, type C1 | 7 tests |
Niemann-Pick disease, type C2 | 4 tests |
Niemann-Pick disease, type D | 7 tests |
Non-acquired combined pituitary hormone deficiency with spine abnormalities | 4 tests |
Non-ketotic hyperglycinemia | 7 tests |
Nonsyndromic Deafness | 9 tests |
Ornithine aminotransferase deficiency | 6 tests |
Ornithine carbamoyltransferase deficiency | 6 tests |
PMM2-congenital disorder of glycosylation | 7 tests |
Pendred syndrome | 7 tests |
Peroxisome biogenesis disorder | 11 tests |
Phenylketonuria | 9 tests |
Pituitary hormone deficiency, combined, 2 | 7 tests |
Polyglandular autoimmune syndrome, type 1 | 6 tests |
Pontocerebellar hypoplasia type 1A | 6 tests |
Pontocerebellar hypoplasia type 2D | 6 tests |
Pontocerebellar hypoplasia type 6 | 6 tests |
Prader-Willi syndrome | 1 test |
Pregnancy loss, recurrent, 4 | 1 test |
Primary ciliary dyskinesia 3 | 6 tests |
Primary ciliary dyskinesia 9 | 6 tests |
Primary hyperoxaluria type 3 | 6 tests |
Primary hyperoxaluria, type I | 7 tests |
Primary hyperoxaluria, type II | 7 tests |
Progressive familial intrahepatic cholestasis type 2 | 4 tests |
Propionic acidemia | 7 tests |
Pseudo-Hurler polydystrophy | 7 tests |
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 | 2 tests |
Pyknodysostosis | 7 tests |
Pyruvate dehydrogenase E1-alpha deficiency | 3 tests |
Pyruvate dehydrogenase E1-beta deficiency | 4 tests |
Pyruvate dehydrogenase E3 deficiency | 9 tests |
Renal tubular acidosis with progressive nerve deafness | 6 tests |
Retinal dystrophy | 4 tests |
Retinitis pigmentosa 25 | 6 tests |
Retinitis pigmentosa 26 | 6 tests |
Retinitis pigmentosa 28 | 6 tests |
Retinitis pigmentosa 59 | 9 tests |
Rhizomelic chondrodysplasia punctata type 1 | 11 tests |
Rhizomelic chondrodysplasia punctata type 3 | 4 tests |
Roberts-SC phocomelia syndrome | 4 tests |
SLC35A2-congenital disorder of glycosylation | 2 tests |
Salla disease | 7 tests |
Sandhoff disease | 7 tests |
SchC6pf-Schulz-Passarge syndrome | 4 tests |
Schimke immuno-osseous dysplasia | 4 tests |
Severe X-linked myotubular myopathy | 3 tests |
Severe combined immunodeficiency due to DCLRE1C deficiency | 7 tests |
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | 7 tests |
Sjögren-Larsson syndrome | 7 tests |
Smith-Lemli-Opitz syndrome | 16 tests |
Solid tumor | 1 test |
Sphingolipid activator protein 1 deficiency | 4 tests |
Spinal muscular atrophy | 32 tests |
Spondylocostal dysostosis 2, autosomal recessive | 4 tests |
Spongy degeneration of central nervous system | 16 tests |
Stuve-Wiedemann syndrome | 4 tests |
Tay-Sachs disease | 27 tests |
Triploidy | 1 test |
Trisomy 18 | 1 test |
Turner syndrome | 1 test |
Twinning, monozygotic | 1 test |
Tyrosinemia type I | 11 tests |
Usher syndrome type 1B | 7 tests |
Usher syndrome type 1C | 7 tests |
Usher syndrome type 1D | 7 tests |
Usher syndrome type 1F | 9 tests |
Usher syndrome type 2A | 9 tests |
Usher syndrome type 3 | 9 tests |
Vanishing white matter disease | 7 tests |
Very long chain acyl-CoA dehydrogenase deficiency | 7 tests |
Wilson disease | 9 tests |
Wolman disease | 6 tests |
X-linked Alport syndrome | 3 tests |
X-linked Emery-Dreifuss muscular dystrophy | 3 tests |
X-linked severe combined immunodeficiency | 5 tests |
alpha Thalassemia | 16 tests |