Gharavi Laboratory (Columbia University)
General information
Gharavi Laboratory
Columbia University
1150 Saint Nicholas Avenue, Russ Berrie Pavilion #412C
New York
New York
United States - 10032
http://www.columbiamedicine.org/divisions/gharavi/
Organization ID: 506730
Columbia University
1150 Saint Nicholas Avenue, Russ Berrie Pavilion #412C
New York
New York
United States - 10032
http://www.columbiamedicine.org/divisions/gharavi/
Organization ID: 506730
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 1560
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCC6 | 2 | Oct 8, 2018 |
| ABCD4 | 3 | Oct 8, 2018 |
| ACE | 7 | Oct 8, 2018 |
| ACTA2 | 2 | Oct 8, 2018 |
| ACTA2-AS1 | 1 | Oct 8, 2018 |
| ACTB | 1 | Oct 8, 2018 |
| ACTG2 | 2 | Oct 8, 2018 |
| ACTN4 | 2 | Oct 8, 2018 |
| ACVRL1 | 1 | Mar 5, 2019 |
| ADA2 | 3 | Oct 8, 2018 |
| ADAMTS13 | 3 | Oct 8, 2018 |
| AFF4 | 2 | Oct 8, 2018 |
| AGPAT2 | 3 | Oct 8, 2018 |
| AGT | 2 | Oct 8, 2018 |
| AGTR1 | 1 | Oct 8, 2018 |
| AHI1 | 3 | Oct 8, 2018 |
| ALG8 | 3 | Oct 8, 2018 |
| ALMS1 | 5 | Oct 8, 2018 |
| ALPL | 5 | Oct 8, 2018 |
| AMN | 3 | Oct 8, 2018 |
| ANKS6 | 3 | Oct 8, 2018 |
| ANLN | 2 | Oct 8, 2018 |
| ANOS1 | 3 | Mar 5, 2019 |
| AOPEP | 1 | Oct 8, 2018 |
| APC2 | 7 | Oct 8, 2018 |
| APOA1 | 2 | Oct 8, 2018 |
| AQP2 | 2 | Oct 8, 2018 |
| AQP5-AS1 | 1 | Oct 8, 2018 |
| ARFGEF1 | 3 | Oct 8, 2018 |
| ARID1A | 4 | Oct 8, 2018 |
| ARID1B | 13 | Mar 5, 2019 |
| ARMC5 | 4 | Mar 5, 2019 |
| ARX | 4 | Oct 8, 2018 |
| ASTN2 | 1 | Oct 8, 2018 |
| ASXL1 | 3 | Oct 8, 2018 |
| ATP6V0A4 | 3 | Oct 8, 2018 |
| ATP6V1B1 | 4 | Oct 8, 2018 |
| ATP7A | 1 | Oct 8, 2018 |
| ATP7B | 6 | Oct 8, 2018 |
| AVP | 2 | Oct 8, 2018 |
| AXDND1 | 4 | Oct 8, 2018 |
| BBIP1 | 1 | Oct 8, 2018 |
| BBS1 | 4 | Oct 8, 2018 |
| BBS10 | 1 | Oct 8, 2018 |
| BBS12 | 1 | Oct 8, 2018 |
| BBS2 | 2 | Oct 8, 2018 |
| BBS4 | 1 | Oct 8, 2018 |
| BBS5 | 2 | Oct 8, 2018 |
| BBS9 | 1 | Oct 8, 2018 |
| BCOR | 4 | Oct 8, 2018 |
| BCS1L | 1 | Oct 8, 2018 |
| BMP4 | 3 | Mar 5, 2019 |
| BRAF | 1 | Oct 8, 2018 |
| BRCA2 | 8 | Sep 24, 2018 |
| BRIP1 | 1 | Oct 8, 2018 |
| BSCL2 | 1 | Oct 8, 2018 |
| BSND | 1 | Oct 8, 2018 |
| BUB1B | 3 | Oct 8, 2018 |
| BUB1B-PAK6 | 1 | Oct 8, 2018 |
| C1QA | 1 | Oct 8, 2018 |
| C2 | 2 | Oct 8, 2018 |
| C2-AS1 | 1 | Oct 8, 2018 |
| C3 | 2 | Mar 5, 2019 |
| C4A | 1 | Oct 8, 2018 |
| CA2 | 1 | Oct 8, 2018 |
| CACNA1S | 23 | Mar 5, 2019 |
| CACNG2-DT | 1 | Oct 8, 2018 |
| CAD | 12 | Oct 8, 2018 |
| CASP10 | 3 | Oct 8, 2018 |
| CASR | 3 | Oct 8, 2018 |
| CC2D2A | 4 | Oct 8, 2018 |
| CD96 | 1 | Oct 8, 2018 |
| CDC5L | 1 | Mar 5, 2019 |
| CDC73 | 1 | Sep 24, 2018 |
| CDKN1B | 3 | Mar 5, 2019 |
| CDKN1C | 3 | Oct 8, 2018 |
| CENPF | 6 | Oct 8, 2018 |
| CEP104 | 1 | Oct 8, 2018 |
| CEP120 | 1 | Oct 8, 2018 |
| CEP164 | 3 | Oct 8, 2018 |
| CEP290 | 6 | Oct 8, 2018 |
| CEP41 | 3 | Oct 8, 2018 |
| CFH | 6 | Oct 8, 2018 |
| CFHR5 | 6 | Mar 5, 2019 |
| CFI | 1 | Oct 8, 2018 |
| CHD7 | 8 | Mar 5, 2019 |
| CIAPIN1 | 1 | Oct 8, 2018 |
| CLCN5 | 6 | Oct 8, 2018 |
| CLCNKA | 4 | Oct 8, 2018 |
| CLCNKB | 3 | Oct 8, 2018 |
| CLDN16 | 1 | Oct 8, 2018 |
| CLDN19 | 1 | Oct 8, 2018 |
| CNNM2 | 1 | Oct 8, 2018 |
| COA8 | 1 | Oct 8, 2018 |
| COL11A1 | 1 | Sep 24, 2018 |
| COL18A1 | 7 | Oct 8, 2018 |
| COL4A1 | 7 | Oct 8, 2018 |
| COL4A3 | 35 | Oct 8, 2018 |
| COL4A4 | 27 | Oct 8, 2018 |
| COL4A5 | 41 | Mar 5, 2019 |
| COL5A1 | 5 | Oct 8, 2018 |
| COQ2 | 2 | Oct 8, 2018 |
| COQ6 | 1 | Oct 8, 2018 |
| COQ9 | 1 | Oct 8, 2018 |
| COX20 | 2 | Oct 8, 2018 |
| CPLANE1 | 6 | Oct 8, 2018 |
| CPT1A | 3 | Oct 8, 2018 |
| CPT2 | 4 | Oct 8, 2018 |
| CRB2 | 6 | Oct 8, 2018 |
| CREBBP | 6 | Oct 8, 2018 |
| CSPP1 | 5 | Oct 8, 2018 |
| CTC1 | 1 | Oct 8, 2018 |
| CTNS | 3 | Oct 8, 2018 |
| CTNS-AS1 | 1 | Oct 8, 2018 |
| CUBN | 7 | Oct 8, 2018 |
| CUL3 | 1 | Oct 8, 2018 |
| CYP24A1 | 2 | Oct 8, 2018 |
| DCDC2 | 1 | Oct 8, 2018 |
| DCHS1 | 3 | Oct 8, 2018 |
| DDX59 | 1 | Oct 8, 2018 |
| DHCR7 | 6 | Sep 24, 2018 |
| DIPK1A | 1 | Oct 8, 2018 |
| DIS3L2 | 3 | Oct 8, 2018 |
| DLG3 | 1 | Oct 8, 2018 |
| DLL3 | 4 | Oct 8, 2018 |
| DLL4 | 2 | Oct 8, 2018 |
| DLX4 | 2 | Oct 8, 2018 |
| DM1-AS | 2 | Mar 5, 2019 |
| DNAAF1 | 1 | Oct 8, 2018 |
| DNASE1 | 1 | Oct 8, 2018 |
| DNASE1L3 | 1 | Oct 8, 2018 |
| DNMT3B | 1 | Oct 8, 2018 |
| DSP | 1 | Sep 24, 2018 |
| DSTYK | 2 | Mar 5, 2019 |
| DYNC2H1 | 7 | Oct 8, 2018 |
| DYNC2I1 | 3 | Oct 8, 2018 |
| DYNC2I2 | 1 | Oct 8, 2018 |
| EBP | 1 | Oct 8, 2018 |
| EFEMP2 | 1 | Oct 8, 2018 |
| EGF | 2 | Oct 8, 2018 |
| EHHADH | 3 | Oct 8, 2018 |
| EIF2AK3 | 1 | Oct 8, 2018 |
| EIF2B4 | 3 | Oct 8, 2018 |
| EMP2 | 2 | Oct 8, 2018 |
| ENG | 1 | Oct 8, 2018 |
| ENPP1 | 1 | Oct 8, 2018 |
| EPG5 | 2 | Oct 8, 2018 |
| ERBB3 | 1 | Oct 8, 2018 |
| ERCC4 | 3 | Oct 8, 2018 |
| ERCC6 | 4 | Oct 8, 2018 |
| ESCO2 | 1 | Oct 8, 2018 |
| ETFB | 3 | Oct 8, 2018 |
| ETFDH | 5 | Oct 8, 2018 |
| EVC | 3 | Oct 8, 2018 |
| EVC2 | 4 | Oct 8, 2018 |
| EYA1 | 6 | Mar 5, 2019 |
| FAH | 1 | Oct 8, 2018 |
| FAM20A | 1 | Oct 8, 2018 |
| FAM20C | 3 | Oct 8, 2018 |
| FAN1 | 2 | Oct 8, 2018 |
| FANCA | 4 | Oct 8, 2018 |
| FANCB | 2 | Oct 8, 2018 |
| FANCC | 2 | Oct 8, 2018 |
| FANCD2 | 1 | Oct 8, 2018 |
| FANCE | 2 | Oct 8, 2018 |
| FANCF | 2 | Oct 8, 2018 |
| FANCI | 3 | Oct 8, 2018 |
| FANCL | 2 | Oct 8, 2018 |
| FANCM | 6 | Oct 8, 2018 |
| FAT4 | 2 | Oct 8, 2018 |
| FBLN5 | 1 | Oct 8, 2018 |
| FGA | 3 | Oct 8, 2018 |
| FGF20 | 1 | Oct 8, 2018 |
| FGFR1 | 2 | Oct 8, 2018 |
| FGFR2 | 3 | Oct 8, 2018 |
| FGFR3 | 2 | Oct 8, 2018 |
| FKBP14 | 1 | Oct 8, 2018 |
| FKBP14-AS1 | 1 | Oct 8, 2018 |
| FLCN | 1 | Sep 24, 2018 |
| FLNA | 7 | Oct 8, 2018 |
| FLNB | 6 | Oct 8, 2018 |
| FLNB-AS1 | 1 | Oct 8, 2018 |
| FN1 | 1 | Oct 8, 2018 |
| FN1-DT | 1 | Oct 8, 2018 |
| FOXC1 | 4 | Oct 8, 2018 |
| FOXC2 | 2 | Mar 5, 2019 |
| FRAS1 | 3 | Oct 8, 2018 |
| FREM1 | 3 | Oct 8, 2018 |
| FREM2 | 5 | Oct 8, 2018 |
| FUZ | 6 | Oct 8, 2018 |
| G6PC1 | 2 | Oct 8, 2018 |
| GALK1 | 2 | Oct 8, 2018 |
| GALNT3 | 1 | Oct 8, 2018 |
| GATA3 | 3 | Oct 8, 2018 |
| GATA6 | 5 | Oct 8, 2018 |
| GATAD1 | 2 | Oct 8, 2018 |
| GCDH | 3 | Oct 8, 2018 |
| GCM2 | 1 | Oct 8, 2018 |
| GDF2 | 2 | Oct 8, 2018 |
| GH-LCR | 6 | Mar 5, 2019 |
| GLA | 8 | Mar 5, 2019 |
| GLB1 | 2 | Oct 8, 2018 |
| GLI3 | 2 | Mar 5, 2019 |
| GLIS2 | 1 | Oct 8, 2018 |
| GNA11 | 2 | Oct 8, 2018 |
| GNAS | 4 | Oct 8, 2018 |
| GNAS-AS1 | 1 | Sep 24, 2018 |
| GPC3 | 1 | Oct 8, 2018 |
| GPR19 | 1 | Mar 5, 2019 |
| GRHPR | 3 | Oct 8, 2018 |
| GRIP1 | 3 | Oct 8, 2018 |
| GSN | 2 | Oct 8, 2018 |
| GTF3C2-AS2 | 2 | Oct 8, 2018 |
| HBB | 1 | Sep 24, 2018 |
| HDAC8 | 1 | Oct 8, 2018 |
| HES7 | 1 | Oct 8, 2018 |
| HGD | 2 | Oct 8, 2018 |
| HNF1A | 7 | Oct 8, 2018 |
| HNF1B | 5 | Mar 5, 2019 |
| HNF4A | 2 | Mar 5, 2019 |
| HNRNPUL2-BSCL2 | 1 | Oct 8, 2018 |
| HOGA1 | 2 | Oct 8, 2018 |
| HOXA13 | 6 | Oct 8, 2018 |
| HOXD13 | 4 | Oct 8, 2018 |
| HPS1 | 1 | Oct 8, 2018 |
| HPSE2 | 1 | Oct 8, 2018 |
| HSD17B3 | 2 | Oct 8, 2018 |
| HSD17B4 | 4 | Oct 8, 2018 |
| HSPG2 | 7 | Oct 8, 2018 |
| IDUA | 2 | Sep 24, 2018 |
| IFI30 | 1 | Oct 8, 2018 |
| IFT122 | 2 | Oct 8, 2018 |
| IFT140 | 4 | Oct 8, 2018 |
| IFT172 | 2 | Oct 8, 2018 |
| IFT27 | 2 | Oct 8, 2018 |
| INF2 | 10 | Oct 8, 2018 |
| INPP5E | 5 | Oct 8, 2018 |
| INPPL1 | 3 | Oct 8, 2018 |
| INSR | 3 | Oct 8, 2018 |
| INVS | 3 | Oct 8, 2018 |
| IQCB1 | 2 | Sep 24, 2018 |
| ITGA3 | 1 | Oct 8, 2018 |
| ITGA6 | 3 | Oct 8, 2018 |
| ITGA6-AS1 | 3 | Oct 8, 2018 |
| ITGA8 | 2 | Oct 8, 2018 |
| ITGB4 | 6 | Oct 8, 2018 |
| JAG1 | 3 | Mar 5, 2019 |
| KANK1 | 5 | Oct 8, 2018 |
| KANK4 | 2 | Mar 5, 2019 |
| KANSL1 | 1 | Sep 24, 2018 |
| KAT6B | 2 | Oct 8, 2018 |
| KCNA1 | 1 | Oct 8, 2018 |
| KCNH1 | 1 | Oct 8, 2018 |
| KCNJ1 | 3 | Oct 8, 2018 |
| KCNQ1 | 3 | Sep 24, 2018 |
| KDM1A | 2 | Oct 8, 2018 |
| KDM6A | 1 | Oct 8, 2018 |
| KIF14 | 4 | Oct 8, 2018 |
| KIF7 | 6 | Oct 8, 2018 |
| KIRREL2 | 1 | Sep 24, 2018 |
| KL | 1 | Oct 8, 2018 |
| KLHL3 | 1 | Sep 24, 2018 |
| KMT2D | 7 | Oct 8, 2018 |
| KRAS | 2 | Mar 5, 2019 |
| LAMB2 | 1 | Oct 8, 2018 |
| LAMB3 | 3 | Oct 8, 2018 |
| LAMC2 | 2 | Oct 8, 2018 |
| LARS1 | 2 | Oct 8, 2018 |
| LDHA | 2 | Oct 8, 2018 |
| LDLR | 1 | Sep 24, 2018 |
| LFNG | 3 | Oct 8, 2018 |
| LMNA | 2 | Oct 8, 2018 |
| LMX1B | 1 | Sep 24, 2018 |
| LOC101448202 | 3 | Oct 8, 2018 |
| LOC101929305 | 3 | Mar 5, 2019 |
| LOC105371046 | 2 | Oct 8, 2018 |
| LOC105372435 | 2 | Oct 8, 2018 |
| LOC106099062 | 1 | Sep 24, 2018 |
| LOC106501712 | 3 | Oct 8, 2018 |
| LOC106501713 | 3 | Oct 8, 2018 |
| LOC106780803 | 2 | Oct 8, 2018 |
| LOC107075317 | 2 | Mar 5, 2019 |
| LOC107126288 | 5 | Oct 8, 2018 |
| LOC107133510 | 1 | Sep 24, 2018 |
| LOC107303338 | 1 | Oct 8, 2018 |
| LOC107982234 | 1 | Oct 8, 2018 |
| LOC109610631 | 2 | Oct 8, 2018 |
| LOC112272600 | 1 | Oct 8, 2018 |
| LOC112469007 | 1 | Oct 8, 2018 |
| LOC112997540 | 2 | Oct 8, 2018 |
| LOC115308161 | 3 | Oct 8, 2018 |
| LOC126806006 | 1 | Oct 8, 2018 |
| LOC126806171 | 2 | Oct 8, 2018 |
| LOC126859690 | 1 | Sep 24, 2018 |
| LOC126860075 | 1 | Oct 8, 2018 |
| LOC126860403 | 1 | Oct 8, 2018 |
| LOC126860554 | 1 | Oct 8, 2018 |
| LOC126860933 | 1 | Oct 8, 2018 |
| LOC126861898 | 1 | Sep 24, 2018 |
| LOC126862123 | 2 | Oct 8, 2018 |
| LOC126862216 | 1 | Oct 8, 2018 |
| LOC126862549 | 1 | Oct 8, 2018 |
| LOC126862568 | 1 | Oct 8, 2018 |
| LOC126863137 | 1 | Oct 8, 2018 |
| LOC126863139 | 1 | Oct 8, 2018 |
| LOC126863239 | 1 | Oct 8, 2018 |
| LOC126863258 | 3 | Oct 8, 2018 |
| LOC129932912 | 1 | Oct 8, 2018 |
| LOC129992813 | 2 | Sep 24, 2018 |
| LOC129999736 | 1 | Oct 8, 2018 |
| LOC130005444 | 1 | Oct 8, 2018 |
| LOC130056554 | 1 | Oct 8, 2018 |
| LOC130063979 | 2 | Oct 8, 2018 |
| LOC130064417 | 1 | Oct 8, 2018 |
| LOC130064942 | 1 | Oct 8, 2018 |
| LOC130066268 | 2 | Oct 8, 2018 |
| LOC130066420 | 1 | Oct 8, 2018 |
| LONP1 | 3 | Oct 8, 2018 |
| LPIN1 | 2 | Oct 8, 2018 |
| LRIG2 | 8 | Oct 8, 2018 |
| LRP2 | 9 | Oct 8, 2018 |
| LRP4 | 3 | Oct 8, 2018 |
| LRP4-AS1 | 1 | Oct 8, 2018 |
| LTBR | 1 | Oct 8, 2018 |
| MAFB | 1 | Oct 8, 2018 |
| MAP2K1 | 1 | Oct 8, 2018 |
| MAP2K2 | 1 | Oct 8, 2018 |
| MBTPS2 | 1 | Oct 8, 2018 |
| MC4R | 1 | Sep 24, 2018 |
| MEFV | 1 | Oct 8, 2018 |
| MESP2 | 1 | Oct 8, 2018 |
| MFF-DT | 35 | Oct 8, 2018 |
| MIR1225 | 1 | Sep 24, 2018 |
| MKKS | 5 | Mar 5, 2019 |
| MLH1 | 2 | Mar 5, 2019 |
| MMACHC | 1 | Oct 8, 2018 |
| MMUT | 6 | Oct 8, 2018 |
| MNX1 | 2 | Oct 8, 2018 |
| MRPS22 | 1 | Oct 8, 2018 |
| MSH2 | 1 | Sep 24, 2018 |
| MSH6 | 2 | Sep 24, 2018 |
| MTMR10 | 1 | Oct 8, 2018 |
| MUC1 | 2 | Oct 8, 2018 |
| MVK | 1 | Oct 8, 2018 |
| MYBPC3 | 3 | Sep 24, 2018 |
| MYCN | 1 | Sep 24, 2018 |
| MYCNOS | 1 | Sep 24, 2018 |
| MYH7 | 2 | Sep 24, 2018 |
| MYH9 | 8 | Mar 5, 2019 |
| MYO1E | 3 | Oct 8, 2018 |
| NARS2 | 1 | Oct 8, 2018 |
| NEK1 | 2 | Oct 8, 2018 |
| NEK8 | 1 | Oct 8, 2018 |
| NF1 | 10 | Mar 5, 2019 |
| NHERF1 | 1 | Oct 8, 2018 |
| NIPBL | 2 | Oct 8, 2018 |
| NLRP3 | 3 | Mar 5, 2019 |
| NOTCH2 | 4 | Oct 8, 2018 |
| NOTCH3 | 7 | Mar 5, 2019 |
| NPHP3 | 10 | Oct 8, 2018 |
| NPHP3-ACAD11 | 10 | Oct 8, 2018 |
| NPHP4 | 10 | Oct 8, 2018 |
| NPHS1 | 9 | Oct 8, 2018 |
| NPHS2 | 7 | Oct 8, 2018 |
| NR0B1 | 3 | Oct 8, 2018 |
| NR3C2 | 1 | Oct 8, 2018 |
| NSD1 | 2 | Mar 5, 2019 |
| NSDHL | 1 | Oct 8, 2018 |
| NUP107 | 3 | Oct 8, 2018 |
| NUP205 | 2 | Oct 8, 2018 |
| OCLN | 3 | Oct 8, 2018 |
| OCRL | 1 | Sep 24, 2018 |
| OFD1 | 1 | Oct 8, 2018 |
| PAF1 | 1 | Oct 8, 2018 |
| PALB2 | 3 | Oct 8, 2018 |
| PAX2 | 5 | Sep 24, 2018 |
| PC | 4 | Oct 8, 2018 |
| PDSS1 | 1 | Oct 8, 2018 |
| PDSS2 | 1 | Oct 8, 2018 |
| PEX1 | 4 | Oct 8, 2018 |
| PEX12 | 1 | Oct 8, 2018 |
| PEX13 | 1 | Oct 8, 2018 |
| PEX14 | 1 | Oct 8, 2018 |
| PEX26 | 1 | Oct 8, 2018 |
| PEX3 | 1 | Oct 8, 2018 |
| PEX5 | 1 | Oct 8, 2018 |
| PEX6 | 3 | Oct 8, 2018 |
| PGK1 | 3 | Oct 8, 2018 |
| PGM3 | 2 | Oct 8, 2018 |
| PHGDH | 3 | Oct 8, 2018 |
| PIGN | 4 | Oct 8, 2018 |
| PIGT | 1 | Oct 8, 2018 |
| PIK3CA | 1 | Mar 5, 2019 |
| PIK3R2 | 2 | Oct 8, 2018 |
| PITX2 | 1 | Oct 8, 2018 |
| PKD1 | 83 | Mar 5, 2019 |
| PKD1-AS1 | 6 | Mar 5, 2019 |
| PKD2 | 17 | Mar 5, 2019 |
| PKHD1 | 13 | Mar 5, 2019 |
| PKP2 | 3 | Sep 24, 2018 |
| PLCE1 | 5 | Oct 8, 2018 |
| PLOD1 | 1 | Oct 8, 2018 |
| PMS2 | 2 | Sep 24, 2018 |
| PNPLA6 | 6 | Oct 8, 2018 |
| POLR1C | 1 | Mar 5, 2019 |
| POMC | 1 | Oct 8, 2018 |
| POMT1 | 2 | Oct 8, 2018 |
| POR | 2 | Oct 8, 2018 |
| PPP1R15B | 2 | Oct 8, 2018 |
| PREPL | 1 | Sep 24, 2018 |
| PRKAR1A | 1 | Oct 8, 2018 |
| PRKCD | 1 | Oct 8, 2018 |
| PRODH | 2 | Oct 8, 2018 |
| PROKR2 | 1 | Mar 5, 2019 |
| PTEN | 3 | Mar 5, 2019 |
| PTH1R | 1 | Oct 8, 2018 |
| PTPN11 | 2 | Oct 8, 2018 |
| PTPRO | 1 | Oct 8, 2018 |
| PUF60 | 2 | Oct 8, 2018 |
| PUS10 | 1 | Oct 8, 2018 |
| PYGM | 6 | Oct 8, 2018 |
| RAB3GAP1 | 2 | Oct 8, 2018 |
| RAB3GAP2 | 2 | Oct 8, 2018 |
| RAI1 | 3 | Oct 8, 2018 |
| RBBP8 | 1 | Oct 8, 2018 |
| REN | 2 | Oct 8, 2018 |
| RERE | 7 | Oct 8, 2018 |
| RET | 2 | Mar 5, 2019 |
| RIN2 | 4 | Oct 8, 2018 |
| RIPK4 | 1 | Oct 8, 2018 |
| RIPPLY2 | 1 | Oct 8, 2018 |
| RIPPLY2-CYB5R4 | 1 | Oct 8, 2018 |
| RMND1 | 2 | Oct 8, 2018 |
| ROBO2 | 4 | Mar 5, 2019 |
| ROR2 | 2 | Oct 8, 2018 |
| RPGRIP1L | 6 | Oct 8, 2018 |
| RPL36A-HNRNPH2 | 8 | Mar 5, 2019 |
| RPL5 | 1 | Oct 8, 2018 |
| RPS24 | 3 | Mar 5, 2019 |
| RPS26 | 1 | Mar 5, 2019 |
| RTTN | 3 | Oct 8, 2018 |
| RUVBL1 | 1 | Sep 24, 2018 |
| RYR1 | 1 | Sep 24, 2018 |
| SALL1 | 6 | Mar 5, 2019 |
| SALL4 | 1 | Oct 8, 2018 |
| SARS2 | 1 | Oct 8, 2018 |
| SC5D | 1 | Oct 8, 2018 |
| SCARB2 | 4 | Oct 8, 2018 |
| SCN4A | 13 | Mar 5, 2019 |
| SCN5A | 2 | Sep 24, 2018 |
| SCNN1A | 4 | Oct 8, 2018 |
| SCO1 | 3 | Oct 8, 2018 |
| SDCCAG8 | 1 | Oct 8, 2018 |
| SDHB | 4 | Mar 5, 2019 |
| SDHC | 1 | Sep 24, 2018 |
| SDHD | 1 | Sep 24, 2018 |
| SEC61A1 | 1 | Sep 24, 2018 |
| SERPINH1 | 3 | Oct 8, 2018 |
| SETBP1 | 9 | Mar 5, 2019 |
| SI | 12 | Oct 8, 2018 |
| SIX1 | 1 | Mar 5, 2019 |
| SIX2 | 2 | Mar 5, 2019 |
| SIX5 | 2 | Mar 5, 2019 |
| SKIC3 | 3 | Oct 8, 2018 |
| SLC12A1 | 4 | Oct 8, 2018 |
| SLC12A3 | 12 | Mar 5, 2019 |
| SLC16A12 | 3 | Oct 8, 2018 |
| SLC16A12-AS1 | 1 | Oct 8, 2018 |
| SLC19A1 | 1 | Oct 8, 2018 |
| SLC1A1 | 4 | Oct 8, 2018 |
| SLC22A12 | 1 | Oct 8, 2018 |
| SLC25A1 | 1 | Oct 8, 2018 |
| SLC26A1 | 2 | Sep 24, 2018 |
| SLC26A4 | 5 | Oct 8, 2018 |
| SLC2A9 | 1 | Oct 8, 2018 |
| SLC34A1 | 2 | Oct 8, 2018 |
| SLC34A3 | 3 | Oct 8, 2018 |
| SLC35D2-HSD17B3 | 2 | Oct 8, 2018 |
| SLC3A1 | 7 | Oct 8, 2018 |
| SLC4A1 | 4 | Oct 8, 2018 |
| SLC4A4 | 3 | Oct 8, 2018 |
| SLC5A2 | 6 | Oct 8, 2018 |
| SLC6A19 | 4 | Oct 8, 2018 |
| SLC6A20 | 1 | Oct 8, 2018 |
| SLC7A7 | 2 | Oct 8, 2018 |
| SLC7A9 | 6 | Oct 8, 2018 |
| SLC9A3R1-AS1 | 1 | Oct 8, 2018 |
| SLIT2 | 4 | Mar 5, 2019 |
| SLX4 | 4 | Oct 8, 2018 |
| SMAD3 | 2 | Oct 8, 2018 |
| SMARCAL1 | 3 | Oct 8, 2018 |
| SMARCE1 | 2 | Oct 8, 2018 |
| SMC1A | 1 | Sep 24, 2018 |
| SOX11 | 1 | Oct 8, 2018 |
| SOX17 | 3 | Mar 5, 2019 |
| SOX18 | 2 | Oct 8, 2018 |
| SOX9 | 1 | Oct 8, 2018 |
| SPATA6L | 3 | Oct 8, 2018 |
| SPECC1L | 3 | Oct 8, 2018 |
| SPECC1L-ADORA2A | 3 | Oct 8, 2018 |
| SRCAP | 2 | Oct 8, 2018 |
| STK11 | 6 | Mar 5, 2019 |
| STRA6 | 4 | Oct 8, 2018 |
| STRADA | 2 | Oct 8, 2018 |
| SUCLA2 | 1 | Oct 8, 2018 |
| TBC1D24 | 2 | Oct 8, 2018 |
| TBCE | 1 | Oct 8, 2018 |
| TBX18 | 2 | Oct 8, 2018 |
| TCEA2 | 2 | Oct 8, 2018 |
| TCTN3 | 4 | Oct 8, 2018 |
| TMCO1 | 1 | Oct 8, 2018 |
| TMEM216 | 1 | Oct 8, 2018 |
| TMEM67 | 9 | Oct 8, 2018 |
| TNFRSF1A | 1 | Oct 8, 2018 |
| TNNT2 | 1 | Sep 24, 2018 |
| TNXB | 2 | Oct 8, 2018 |
| TP53 | 1 | Sep 24, 2018 |
| TP63 | 1 | Sep 24, 2018 |
| TRAF3IP1 | 3 | Oct 8, 2018 |
| TRAIP | 2 | Oct 8, 2018 |
| TRAP1 | 5 | Oct 8, 2018 |
| TRIM32 | 1 | Oct 8, 2018 |
| TRMT5 | 1 | Oct 8, 2018 |
| TRNT1 | 1 | Oct 8, 2018 |
| TRPC6 | 12 | Mar 5, 2019 |
| TRPM6 | 3 | Oct 8, 2018 |
| TSC1 | 2 | Mar 5, 2019 |
| TSC2 | 10 | Mar 5, 2019 |
| TTC21B | 8 | Oct 8, 2018 |
| TTC21B-AS1 | 2 | Oct 8, 2018 |
| TTC8 | 1 | Oct 8, 2018 |
| TTR | 1 | Sep 24, 2018 |
| TXNL4A | 1 | Oct 8, 2018 |
| UBR1 | 1 | Oct 8, 2018 |
| UMOD | 8 | Oct 8, 2018 |
| UMPS | 4 | Mar 5, 2019 |
| UPB1 | 4 | Oct 8, 2018 |
| UPK3A | 3 | Oct 8, 2018 |
| VANGL1 | 4 | Mar 5, 2019 |
| VHL | 2 | Mar 5, 2019 |
| VPS33B | 4 | Oct 8, 2018 |
| VRK2 | 1 | Oct 8, 2018 |
| WDPCP | 3 | Oct 8, 2018 |
| WDR19 | 6 | Oct 8, 2018 |
| WDR35 | 3 | Oct 8, 2018 |
| WFS1 | 8 | Mar 5, 2019 |
| WNK1 | 4 | Oct 8, 2018 |
| WNK4 | 3 | Oct 8, 2018 |
| WNT4 | 1 | Oct 8, 2018 |
| WNT7A | 2 | Oct 8, 2018 |
| WT1 | 3 | Mar 5, 2019 |
| XDH | 2 | Oct 8, 2018 |
| XPNPEP3 | 1 | Oct 8, 2018 |
| XRCC4 | 1 | Oct 8, 2018 |
| XYLT2 | 1 | Oct 8, 2018 |
| YAP1 | 1 | Oct 8, 2018 |
| ZAP70 | 2 | Oct 8, 2018 |
| ZDHHC24 | 3 | Oct 8, 2018 |
| ZMPSTE24 | 1 | Oct 8, 2018 |
| ZNF276 | 1 | Oct 8, 2018 |
| ZNF423 | 1 | Oct 8, 2018 |
| ZNF687 | 1 | Oct 8, 2018 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| not provided | 1560 | Mar 5, 2019 |