Center for Genomic Medicine (King Faisal Specialist Hospital and Research Center), CGM_KFSHRC
General information
Personnel
- Mohamed Abouelhoda, Principal Investigator
Phone: +966114647272
Email: mabouelhoda@kfshrc.edu.sa - Ahmed Alfares, Principal Investigator
Phone: +966114647272
Email: aalfares@kfshrc.edu.sa - Sarah Alhamad, Informatics staff
Phone: +966114647272
Email: f1515791@kfshrc.edu.sa - Abdullah Alsuwaidan, Lab Director
Phone: +966114647272
Email: abalsuwaidan@kfshrc.edu.sa - Meshari Alwazae, Principal Investigator
Phone: +966114647272
Email: alwazae@kfshrc.edu.sa
Assertion criteria
Level: Assertion criteria provided
- ACMG Guidelines, 2015
- ACMG Guidelines, 2015
- ACMG Guidelines, 2015
- ACMG Guidelines, 2015
- ACMG Guidelines, 2015
- ACMG Guidelines, 2015
- ACMG Guidelines, 2015
- ACMG Guidelines, 2015
- ACMG Guidelines, 2015
- ACMG Guidelines, 2015
- ACMG Guidelines, 2015
- ACMG Guidelines, 2015
- ACMG Guidelines, 2015
- ACMG Guidelines, 2015
- ACMG Guidelines, 2015
- ACMG Guidelines, 2015
- ACMG Guidelines, 2015
- ACMG Guidelines, 2015
- ACMG Guidelines, 2015
- ACMG Guidelines, 2015
Summary of submissions to ClinVar
Total submissions: 547
Gene
Gene | Submissions | Last Updated |
---|---|---|
AAAS | 1 | Jan 14, 2024 |
ABCA4 | 1 | Mar 14, 2024 |
ABCB11 | 4 | Mar 14, 2024 |
ABCB4 | 4 | Mar 14, 2024 |
ABCC2 | 1 | Jan 22, 2024 |
ABCC8 | 1 | May 8, 2023 |
ABCD1 | 11 | Jan 14, 2024 |
ACADVL | 1 | Mar 14, 2024 |
ACOX1 | 1 | May 8, 2023 |
ACTA1 | 1 | May 8, 2023 |
ADA2 | 1 | May 8, 2023 |
ADAMTSL4 | 2 | Mar 14, 2024 |
ADAMTSL4-AS2 | 1 | Jul 7, 2021 |
AGK | 1 | Mar 14, 2024 |
AGL | 1 | Mar 14, 2024 |
AGRN | 1 | Jul 7, 2021 |
AGTPBP1 | 1 | Mar 14, 2024 |
AHI1 | 3 | Mar 14, 2024 |
AIRE | 1 | May 8, 2023 |
AK2 | 2 | May 8, 2023 |
AKR1D1 | 2 | May 8, 2023 |
ALDH3A2 | 1 | Jan 22, 2024 |
ALDH6A1 | 1 | Mar 14, 2024 |
ALDH7A1 | 2 | Mar 14, 2024 |
ALKBH8 | 1 | Mar 14, 2024 |
ALMS1 | 1 | Dec 19, 2023 |
ALS2 | 2 | Mar 14, 2024 |
AMPD2 | 2 | Mar 14, 2024 |
ANKLE1 | 1 | Dec 19, 2023 |
ANKS6 | 1 | May 8, 2023 |
ARHGDIA | 1 | Jul 7, 2021 |
ARID1B | 1 | Mar 14, 2024 |
ARR3 | 1 | Dec 19, 2023 |
ASCL1 | 1 | Dec 19, 2023 |
ASPM | 6 | Mar 14, 2024 |
ASXL3 | 1 | Jan 22, 2024 |
ATM | 3 | Mar 14, 2024 |
ATN1 | 1 | Dec 19, 2023 |
ATP7B | 2 | May 8, 2023 |
ATP8B1 | 1 | May 8, 2023 |
ATP8B1-AS1 | 1 | May 8, 2023 |
BAAT | 1 | Mar 14, 2024 |
BBOF1 | 1 | Mar 14, 2024 |
BBS1 | 1 | Feb 13, 2024 |
BBS5 | 2 | Mar 14, 2024 |
BLM | 1 | Jul 7, 2021 |
BLTP1 | 1 | Mar 14, 2024 |
BRCA1 | 1 | Jan 22, 2024 |
BRCA2 | 1 | May 8, 2023 |
BTK | 2 | Mar 14, 2024 |
C11orf65 | 2 | Mar 14, 2024 |
C1QA | 1 | Mar 14, 2024 |
C1QTNF5 | 1 | Mar 14, 2024 |
C8B | 1 | May 8, 2023 |
CA2 | 1 | Mar 14, 2024 |
CACNA1F | 1 | Dec 19, 2023 |
CD151 | 1 | Jul 7, 2021 |
CDK5RAP2 | 2 | Mar 14, 2024 |
CDKN1C | 1 | Jan 14, 2024 |
CENPF | 1 | Jul 7, 2021 |
CERS1 | 1 | Jan 22, 2024 |
CFAP57 | 1 | Dec 19, 2023 |
CFHR4 | 1 | Dec 19, 2023 |
CFI | 1 | Jul 7, 2021 |
CFTR | 1 | Mar 14, 2024 |
CHAT | 1 | Jan 22, 2024 |
CHRNA1 | 2 | Mar 14, 2024 |
CHRNB2 | 1 | Mar 14, 2024 |
CILK1 | 2 | Jan 22, 2024 |
CIZ1 | 1 | Mar 14, 2024 |
CLDN10 | 1 | Jul 7, 2021 |
CNGA3 | 1 | Mar 14, 2024 |
CNPY3 | 1 | Jan 22, 2024 |
CNPY3-GNMT | 1 | Jan 22, 2024 |
COL25A1 | 1 | May 8, 2023 |
COL4A5 | 1 | Jul 7, 2021 |
COLQ | 1 | Jan 22, 2024 |
CORO1A | 1 | May 8, 2023 |
CRB1 | 2 | Mar 14, 2024 |
CREBBP | 1 | Jan 22, 2024 |
CRYAB | 1 | Mar 14, 2024 |
CTU2 | 1 | Mar 14, 2024 |
CYBA | 1 | May 8, 2023 |
CYP11B1 | 1 | Mar 14, 2024 |
CYP19A1 | 1 | May 8, 2023 |
DCAF17 | 2 | Mar 14, 2024 |
DCBLD2 | 1 | Jan 22, 2024 |
DCHS1 | 1 | Jul 7, 2021 |
DCHS2 | 1 | May 8, 2023 |
DCLRE1C | 2 | Mar 11, 2024 |
DGAT1 | 1 | May 8, 2023 |
DIAPH1 | 2 | Mar 14, 2024 |
DIS3L2 | 1 | Jul 7, 2021 |
DLD | 1 | Jul 7, 2021 |
DMP1 | 1 | Jan 14, 2024 |
DNM1 | 1 | Mar 14, 2024 |
DOK2 | 1 | Dec 19, 2023 |
DPH1 | 1 | May 8, 2023 |
DYNC2H1 | 3 | Jan 22, 2024 |
ECEL1 | 1 | Mar 14, 2024 |
ECHS1 | 1 | May 8, 2023 |
ELANE | 1 | May 8, 2023 |
ELP4 | 2 | Dec 19, 2023 |
ENPP1 | 2 | Jan 14, 2024 |
EPCAM | 1 | May 8, 2023 |
EPHB4 | 1 | Dec 19, 2023 |
EPM2A-DT | 1 | Jan 22, 2024 |
ETFB | 1 | May 8, 2023 |
F10 | 10 | May 13, 2021 |
F10-AS1 | 5 | May 13, 2021 |
F11 | 1 | May 13, 2021 |
F13A1 | 7 | May 13, 2021 |
F13B | 7 | May 13, 2021 |
F2 | 8 | May 13, 2021 |
F5 | 11 | May 13, 2021 |
F7 | 9 | May 13, 2021 |
F8 | 21 | Jul 7, 2021 |
F9 | 1 | May 13, 2021 |
FANCA | 1 | Mar 14, 2024 |
FASN | 1 | Dec 19, 2023 |
FBXO30 | 1 | Jan 22, 2024 |
FGA | 12 | May 13, 2021 |
FGFR3 | 2 | Mar 14, 2024 |
FGG | 4 | May 13, 2021 |
FLVCR2 | 1 | Mar 14, 2024 |
FOXJ3 | 1 | Dec 19, 2023 |
FOXP3 | 1 | May 8, 2023 |
FREM1 | 1 | Mar 11, 2024 |
FRRS1L | 1 | Mar 14, 2024 |
G6PD | 6 | May 8, 2023 |
GAA | 1 | Mar 14, 2024 |
GALE | 2 | Jan 22, 2024 |
GALNS | 2 | Mar 14, 2024 |
GALT | 1 | May 8, 2023 |
GATA3 | 1 | Jul 7, 2021 |
GATAD1 | 1 | Mar 14, 2024 |
GDF1 | 1 | Jan 22, 2024 |
GJB2 | 1 | Jan 22, 2024 |
GLI3 | 1 | Dec 19, 2023 |
GNPTAB | 1 | Mar 14, 2024 |
GNS | 1 | May 8, 2023 |
GPHN | 1 | Feb 13, 2024 |
GUSB | 2 | Feb 13, 2024 |
HBA2 | 6 | May 13, 2021 |
HBB | 2 | Jan 22, 2024 |
HMBS | 1 | May 8, 2023 |
HSD17B4 | 1 | Mar 14, 2024 |
HSPG2 | 1 | Jul 7, 2021 |
HYLS1 | 1 | Mar 14, 2024 |
IL12RB1 | 1 | Jan 22, 2024 |
INPP5E | 1 | Jan 22, 2024 |
IQCB1 | 1 | Mar 14, 2024 |
ISCA2 | 1 | May 8, 2023 |
JAK3 | 3 | May 8, 2023 |
KCNA2 | 1 | Mar 14, 2024 |
KCNJ10 | 1 | Mar 14, 2024 |
KCNJ11 | 3 | May 8, 2023 |
KCNN3 | 1 | Dec 19, 2023 |
KCNT1 | 1 | Mar 14, 2024 |
KIF12 | 2 | Mar 14, 2024 |
KIF21A | 1 | Dec 19, 2023 |
KIF4A | 1 | Jan 22, 2024 |
KLHL3 | 1 | Jul 7, 2021 |
KMT2A | 2 | Mar 14, 2024 |
KRT12 | 1 | Dec 19, 2023 |
LAMA2 | 1 | Mar 14, 2024 |
LARP1 | 1 | Dec 19, 2023 |
LIG4 | 1 | Mar 14, 2024 |
LIPA | 2 | Jan 14, 2024 |
LMNA | 1 | Mar 14, 2024 |
LMOD3 | 1 | May 8, 2023 |
LOC106099062 | 1 | Jan 22, 2024 |
LOC106799833 | 1 | Mar 14, 2024 |
LOC106804612 | 6 | May 13, 2021 |
LOC107133510 | 2 | Jan 22, 2024 |
LOC107303340 | 1 | Jul 7, 2021 |
LOC107982234 | 1 | Jul 7, 2021 |
LOC109461484 | 1 | Dec 19, 2023 |
LOC110006319 | 1 | May 13, 2021 |
LOC121587541 | 1 | May 8, 2023 |
LOC121853040 | 1 | May 8, 2023 |
LOC126805822 | 1 | Mar 14, 2024 |
LOC126859690 | 2 | Feb 13, 2024 |
LOC126860582 | 1 | Mar 11, 2024 |
LOC126861013 | 1 | Jan 22, 2024 |
LOC126862264 | 1 | May 8, 2023 |
LOC129930068 | 1 | May 8, 2023 |
LOC130061974 | 1 | Jul 7, 2021 |
MASP1 | 1 | Mar 14, 2024 |
MC2R | 2 | Jan 14, 2024 |
MECP2 | 5 | Mar 14, 2024 |
MEF2A | 1 | Dec 19, 2023 |
MEFV | 1 | May 8, 2023 |
MFN2 | 1 | Mar 14, 2024 |
MFRP | 1 | Mar 14, 2024 |
MFSD8 | 2 | Mar 14, 2024 |
MICU1 | 1 | Feb 13, 2024 |
MIR4713HG | 1 | May 8, 2023 |
MMUT | 1 | Feb 13, 2024 |
MPV17 | 1 | May 8, 2023 |
MRAP | 2 | Jan 14, 2024 |
MTHFR | 1 | May 8, 2023 |
MTM1 | 1 | Mar 14, 2024 |
MYH11 | 1 | Mar 14, 2024 |
MYH13 | 2 | Dec 19, 2023 |
MYH3 | 1 | Jul 7, 2021 |
MYO5B | 1 | Jan 22, 2024 |
MYOF | 1 | Dec 19, 2023 |
MYSM1 | 2 | May 8, 2023 |
NADK | 1 | Dec 19, 2023 |
NALCN | 2 | Mar 14, 2024 |
NCF2 | 2 | Mar 14, 2024 |
NCOR2 | 1 | Dec 19, 2023 |
NDUFS2 | 1 | Mar 14, 2024 |
NEB | 2 | Mar 14, 2024 |
NECTIN1 | 1 | Mar 14, 2024 |
NEK1 | 1 | Jan 22, 2024 |
NEK8 | 1 | Jul 7, 2021 |
NEPRO | 1 | Mar 14, 2024 |
NFATC1 | 1 | Dec 19, 2023 |
NIPBL | 1 | May 8, 2023 |
NLRC4 | 1 | May 8, 2023 |
NNT | 2 | Jan 14, 2024 |
NOTCH2 | 2 | Mar 14, 2024 |
NPHS2 | 1 | Mar 14, 2024 |
NR0B1 | 1 | Jan 14, 2024 |
NR2E3 | 1 | Feb 13, 2024 |
NR3C2 | 1 | Jan 14, 2024 |
NTRK1 | 1 | Mar 14, 2024 |
OCA2 | 1 | Jan 22, 2024 |
OPA1 | 2 | Mar 14, 2024 |
OSTM1 | 1 | May 8, 2023 |
PACS2 | 1 | Mar 14, 2024 |
PAH | 3 | Mar 14, 2024 |
PAX6 | 2 | Dec 19, 2023 |
PC | 2 | May 8, 2023 |
PCCA | 1 | Mar 14, 2024 |
PCCB | 1 | Jan 22, 2024 |
PCDH15 | 1 | Feb 13, 2024 |
PDHA1 | 1 | Jan 22, 2024 |
PDHB | 1 | May 8, 2023 |
PEX1 | 2 | Mar 14, 2024 |
PEX5 | 1 | May 8, 2023 |
PHEX | 18 | Jan 14, 2024 |
PHGDH | 1 | Mar 14, 2024 |
PIEZO1 | 1 | Jul 7, 2021 |
PIRC66 | 1 | May 8, 2023 |
PKD1 | 4 | Jul 7, 2021 |
PKD2 | 2 | Jul 7, 2021 |
PKHD1 | 5 | Feb 13, 2024 |
PLCE1 | 1 | May 8, 2023 |
PLEC | 1 | Mar 14, 2024 |
PLOD3 | 1 | Mar 14, 2024 |
PLP1 | 1 | Mar 14, 2024 |
PLXNB3-AS1 | 1 | Jan 14, 2024 |
PNP | 2 | Mar 14, 2024 |
POLG | 1 | Mar 14, 2024 |
POLGARF | 1 | Mar 14, 2024 |
PRF1 | 2 | May 8, 2023 |
PRUNE1 | 1 | Mar 14, 2024 |
PTCHD1-AS | 7 | Jan 14, 2024 |
PTF1A | 1 | May 8, 2023 |
PTPRM | 1 | Dec 19, 2023 |
PUM2 | 1 | Dec 19, 2023 |
PUS3 | 1 | Mar 14, 2024 |
RAB27A | 2 | May 8, 2023 |
RAB3GAP1 | 2 | Mar 14, 2024 |
RAB9B | 1 | Mar 14, 2024 |
RAG1 | 4 | Mar 14, 2024 |
RAG2 | 2 | May 8, 2023 |
RB1 | 1 | May 8, 2023 |
RDH12 | 1 | Feb 13, 2024 |
RDX | 1 | Mar 14, 2024 |
RELCH | 1 | Dec 19, 2023 |
RFX1 | 1 | Dec 19, 2023 |
RFXANK | 1 | May 8, 2023 |
RNASEH2A | 1 | Mar 14, 2024 |
RND3 | 1 | Dec 19, 2023 |
RRM2B | 1 | Jan 22, 2024 |
RTEL1 | 1 | May 8, 2023 |
RTEL1-TNFRSF6B | 1 | May 8, 2023 |
SACS | 1 | Jan 22, 2024 |
SALL1 | 1 | Jul 7, 2021 |
SAMHD1 | 1 | Jan 22, 2024 |
SCNN1A | 1 | May 8, 2023 |
SCYL1 | 1 | May 8, 2023 |
SEMA6D | 1 | Dec 19, 2023 |
SEPSECS | 1 | Mar 14, 2024 |
SERAC1 | 2 | Mar 14, 2024 |
SGPL1 | 1 | Jan 14, 2024 |
SH2D1A | 1 | May 8, 2023 |
SH3PXD2A | 1 | Dec 19, 2023 |
SH3TC2 | 1 | Mar 14, 2024 |
SLC10A2 | 1 | Mar 14, 2024 |
SLC12A3 | 1 | Jul 7, 2021 |
SLC16A1 | 1 | Jan 22, 2024 |
SLC19A2 | 1 | Mar 14, 2024 |
SLC25A15 | 1 | May 8, 2023 |
SLC25A42 | 1 | May 8, 2023 |
SLC26A4 | 1 | Mar 14, 2024 |
SLC2A2 | 1 | Mar 14, 2024 |
SLC52A3 | 1 | May 8, 2023 |
SMARCB1 | 1 | May 8, 2023 |
SMARCD2 | 1 | May 8, 2023 |
SPRY2 | 1 | Jul 7, 2021 |
STXBP2 | 1 | May 8, 2023 |
SYNE1 | 1 | Mar 14, 2024 |
TASP1 | 1 | Mar 14, 2024 |
TBCEL-TECTA | 1 | Mar 14, 2024 |
TBX18 | 1 | Jul 7, 2021 |
TBX19 | 1 | Jan 14, 2024 |
TCN2 | 1 | May 8, 2023 |
TCTN1 | 1 | Mar 14, 2024 |
TECTA | 1 | Mar 14, 2024 |
TIMELESS | 1 | Dec 19, 2023 |
TMX2 | 1 | Mar 14, 2024 |
TMX2-CTNND1 | 1 | Mar 14, 2024 |
TNIK | 1 | Mar 14, 2024 |
TNKS2 | 1 | Dec 19, 2023 |
TPP1 | 1 | Jan 22, 2024 |
TPT1 | 1 | Dec 19, 2023 |
TRAF7 | 1 | May 8, 2023 |
TRAPPC11 | 1 | Mar 14, 2024 |
TRAPPC9 | 1 | Mar 14, 2024 |
TRPV6 | 1 | Jul 7, 2021 |
TTBK2 | 1 | Dec 19, 2023 |
TTN | 3 | Mar 14, 2024 |
TTN-AS1 | 2 | Mar 14, 2024 |
TUBGCP3 | 1 | Dec 19, 2023 |
TXNDC15 | 2 | Mar 14, 2024 |
TYR | 2 | Mar 14, 2024 |
UBE4A | 1 | Mar 14, 2024 |
UNC80 | 1 | Jul 7, 2021 |
VANGL2 | 1 | Dec 19, 2023 |
VHL | 1 | Jul 7, 2021 |
VIPAS39 | 1 | Mar 14, 2024 |
VPS13B | 1 | Mar 14, 2024 |
VWF | 37 | May 13, 2021 |
WDR19 | 1 | Jul 7, 2021 |
WDR62 | 1 | Mar 14, 2024 |
WHRN | 1 | Mar 14, 2024 |
WNK4 | 1 | Jul 7, 2021 |
WT1 | 1 | Jul 7, 2021 |
WWOX | 1 | Mar 14, 2024 |
XIAP | 1 | Dec 19, 2023 |
XRCC2 | 1 | Mar 14, 2024 |
ZAP70 | 1 | May 8, 2023 |
ZDHHC15 | 1 | May 8, 2023 |
ZFHX4 | 1 | Dec 19, 2023 |