Genome Diagnostics Laboratory (Amsterdam University Medical Center), VUMC GD

General information

Genome Diagnostics Laboratory, VUMC GD
Amsterdam University Medical Center
van der Boechorststraat 7
Amsterdam
Noord-Holland
Netherlands - 1081 BT
http://www.vumc.nl
Organization ID: 506453

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 3744

Gene

GeneSubmissionsLast Updated
AAAS1Aug 24, 2021
ABCA43Aug 24, 2021
ABCB114Oct 15, 2021
ABCC62Aug 24, 2021
ABHD122Aug 24, 2021
ABL15Dec 16, 2021
ACAN1Dec 16, 2021
ACTA26Aug 24, 2021
ACTG11Dec 16, 2021
ACVRL15Aug 24, 2021
ACYP11Aug 24, 2021
ADA22Aug 24, 2021
ADAMTS108Dec 16, 2021
ADAMTS1712Dec 16, 2021
ADAMTS184Aug 24, 2021
ADAMTS212Aug 24, 2021
ADAMTSL212Aug 24, 2021
ADAMTSL46Oct 15, 2021
ADAMTSL4-AS21Aug 24, 2021
ADAT31Oct 15, 2021
ADCY52Aug 24, 2021
ADGRV11Aug 24, 2021
ADNP1Aug 24, 2021
ADSL1Aug 24, 2021
AEBP11Aug 24, 2021
AGPAT21Aug 24, 2021
AHI11Aug 24, 2021
AIP3Aug 24, 2021
AKT15Dec 16, 2021
ALDH18A11Apr 9, 2018
ALDH3A22Aug 24, 2021
ALDH7A11Apr 9, 2018
ALDOB1Aug 24, 2021
ALG63Aug 24, 2021
ALK9Aug 24, 2021
ALPL12Aug 24, 2021
ALS220Oct 15, 2021
ALX11Dec 16, 2021
ANG1Aug 24, 2021
ANKRD114Dec 16, 2021
ANKRD261Dec 16, 2021
ANO56Dec 16, 2021
AOPEP3Oct 15, 2021
AP4B12Oct 15, 2021
AP4B1-AS11Oct 15, 2021
AP4M11Aug 24, 2021
APC30Dec 16, 2021
APOB1Aug 24, 2021
APOE8Aug 24, 2021
APP3Aug 24, 2021
APTX1Aug 24, 2021
AR1Aug 24, 2021
ARF11Aug 24, 2021
ARHGEF2825Aug 24, 2021
ARID1B2Dec 16, 2021
ARL63Aug 24, 2021
ARMS22Dec 16, 2021
ARSA3Aug 24, 2021
ASTN22Dec 16, 2021
ASXL31Aug 24, 2021
ATL11Aug 24, 2021
ATM80Dec 16, 2021
ATP13A214Aug 24, 2021
ATP1A39Aug 24, 2021
ATP2A11Aug 24, 2021
ATP6AP21Aug 24, 2021
ATP7A4Aug 24, 2021
ATP7B35Dec 16, 2021
ATRIP2Dec 16, 2021
ATRIP-TREX12Dec 16, 2021
ATXN29Aug 24, 2021
ATXN33Aug 24, 2021
AXDND11Aug 24, 2021
AXIN214Dec 16, 2021
B3GALNT21Apr 9, 2018
B3GALT61Aug 24, 2021
B3GAT33Aug 24, 2021
B3GLCT1Aug 24, 2021
B4GALT74Aug 24, 2021
BAG33Oct 15, 2021
BAP17Dec 16, 2021
BARD14Dec 16, 2021
BBS12Aug 24, 2021
BBS104Aug 24, 2021
BBS125Apr 9, 2018
BBS26Aug 24, 2021
BBS45Aug 24, 2021
BBS51Aug 24, 2021
BBS71Apr 9, 2018
BBS98Aug 24, 2021
BEST11Aug 24, 2021
BGN5Aug 24, 2021
BIVM-ERCC515Aug 24, 2021
BLK1Dec 16, 2021
BLM10Aug 24, 2021
BMP13Aug 24, 2021
BMP42Aug 24, 2021
BMPR1A4Aug 24, 2021
BRAF3Aug 24, 2021
BRAT11Aug 24, 2021
BRCA11Apr 9, 2018
BRCA23Apr 9, 2018
BRIP19Aug 24, 2021
BRWD31Aug 24, 2021
BSND1Aug 24, 2021
BUB1B2Dec 16, 2021
BUB1B-PAK62Dec 16, 2021
C11orf6525Dec 16, 2021
C19orf127Aug 24, 2021
C1QTNF52Aug 24, 2021
C1S3Oct 15, 2021
C9orf724Aug 24, 2021
CACNA1A1Oct 15, 2021
CAMK11Apr 9, 2018
CAPN31Aug 24, 2021
CARD111Oct 15, 2021
CARD91Aug 24, 2021
CBL11Aug 24, 2021
CBS8Dec 16, 2021
CC2D2A1Aug 24, 2021
CCBE11Aug 24, 2021
CCDC401Aug 24, 2021
CDC732Oct 15, 2021
CDH124Dec 16, 2021
CDK132Aug 24, 2021
CDKN1A3Aug 24, 2021
CDKN1B1Apr 9, 2018
CDKN2A2Dec 16, 2021
CEBPA3Aug 24, 2021
CEP1521Aug 24, 2021
CEP2905Aug 24, 2021
CEP411Aug 24, 2021
CFHR51Aug 24, 2021
CFP1Aug 24, 2021
CFTR4Dec 16, 2021
CFTR-AS12Dec 16, 2021
CHAT2Aug 24, 2021
CHCHD106Aug 24, 2021
CHD31Aug 24, 2021
CHEK224Dec 16, 2021
CHMP2B4Aug 24, 2021
CHRNA12Aug 24, 2021
CHRNB11Aug 24, 2021
CHRNE1Dec 16, 2021
CHROMR1Aug 24, 2021
CHST141Aug 24, 2021
CHST34Aug 24, 2021
CIB21Aug 24, 2021
CLCN11Aug 24, 2021
CLN310Aug 24, 2021
CLN512Aug 24, 2021
CLN82Aug 24, 2021
CNGA31Aug 24, 2021
CNGB31Aug 24, 2021
COASY3Aug 24, 2021
COCH1Aug 24, 2021
COL11A134Aug 24, 2021
COL11A221Oct 15, 2021
COL12A111Oct 15, 2021
COL17A11Aug 24, 2021
COL18A112Aug 24, 2021
COL1A122Dec 16, 2021
COL1A218Dec 16, 2021
COL2A128Dec 16, 2021
COL3A125Aug 24, 2021
COL4A13Aug 24, 2021
COL4A21Aug 24, 2021
COL4A2-AS11Aug 24, 2021
COL4A41Aug 24, 2021
COL5A136Dec 16, 2021
COL5A219Dec 16, 2021
COL6A14Aug 24, 2021
COL6A24Aug 24, 2021
COL6A35Aug 24, 2021
COL7A116Oct 15, 2021
COL9A115Dec 16, 2021
COL9A217Aug 24, 2021
COL9A316Dec 16, 2021
COMT4Aug 24, 2021
COQ23Aug 24, 2021
COQ8A1Aug 24, 2021
CP27Oct 15, 2021
CPT22Aug 24, 2021
CRB21Aug 24, 2021
CREB3L13Dec 16, 2021
CREBBP2Dec 16, 2021
CRTAP6Aug 24, 2021
CRYBA11Aug 24, 2021
CSF1R32Dec 16, 2021
CSNK2A11Aug 24, 2021
CTC12Dec 16, 2021
CTNNA14Aug 24, 2021
CTNNB11Oct 15, 2021
CTSD17Aug 24, 2021
CTSF5Aug 24, 2021
CUBN1Apr 9, 2018
CUL71Aug 24, 2021
CYP17A11Aug 24, 2021
CYP1B11Aug 24, 2021
CYP21A21Aug 24, 2021
CYP27A11Aug 24, 2021
DCAF175Aug 24, 2021
DCT1Aug 24, 2021
DCTN14Aug 24, 2021
DDB21Aug 24, 2021
DDHD21Aug 24, 2021
DDOST1Aug 24, 2021
DDX3X4Aug 24, 2021
DEPDC51Aug 24, 2021
DES1Aug 24, 2021
DHCR73Oct 15, 2021
DHFR4Oct 15, 2021
DICER112Dec 16, 2021
DIS3L26Dec 16, 2021
DKC12Aug 24, 2021
DNAAF11Aug 24, 2021
DNAAF31Aug 24, 2021
DNAH112Aug 24, 2021
DNAH54Aug 24, 2021
DNAH81Oct 15, 2021
DNAI12Aug 24, 2021
DNAJC1316Aug 24, 2021
DNAJC67Aug 24, 2021
DNM1L1Aug 24, 2021
DOCK62Aug 24, 2021
DOCK85Oct 15, 2021
DPYD2Aug 24, 2021
DPYSL51Aug 24, 2021
DSE2Aug 24, 2021
DSPP1Oct 15, 2021
DYNC1H14Aug 24, 2021
DYNC2H11Aug 24, 2021
ECEL11Aug 24, 2021
ECHS11Dec 16, 2021
EEF1A21Aug 24, 2021
EFEMP211Aug 24, 2021
EFTUD21Dec 16, 2021
EGFR1Aug 24, 2021
EHMT11Aug 24, 2021
EIF3F1Dec 16, 2021
EIF4G121Oct 15, 2021
ELANE3Aug 24, 2021
ELN18Dec 16, 2021
ELN-AS13Aug 24, 2021
ENG11Aug 24, 2021
EPCAM5Aug 24, 2021
EPHA81Aug 24, 2021
EPHB23Aug 24, 2021
ERBB411Aug 24, 2021
ERCC28Dec 16, 2021
ERCC31Aug 24, 2021
ERCC44Dec 16, 2021
ERCC515Aug 24, 2021
ERCC81Aug 24, 2021
EXT11Aug 24, 2021
EXT22Aug 24, 2021
EYA11Aug 24, 2021
EYS3Aug 24, 2021
FA2H7Aug 24, 2021
FAH3Aug 24, 2021
FAN16Dec 16, 2021
FANCA7Aug 24, 2021
FANCB3Aug 24, 2021
FANCC8Oct 15, 2021
FANCD211Aug 24, 2021
FANCD2OS1Aug 24, 2021
FANCE1Aug 24, 2021
FANCF2Aug 24, 2021
FANCG4Dec 16, 2021
FANCI9Aug 24, 2021
FANCL1Aug 24, 2021
FANCM8Oct 15, 2021
FAS4Aug 24, 2021
FAT41Aug 24, 2021
FBLN52Aug 24, 2021
FBN156Dec 16, 2021
FBN248Dec 16, 2021
FBXL35Aug 24, 2021
FBXO77Aug 24, 2021
FGD11Aug 24, 2021
FGF121Aug 24, 2021
FGFR25Aug 24, 2021
FGFR316Dec 16, 2021
FH10Dec 16, 2021
FIG412Aug 24, 2021
FKBP104Aug 24, 2021
FKBP141Aug 24, 2021
FKBP14-AS11Aug 24, 2021
FKRP2Aug 24, 2021
FKTN1Aug 24, 2021
FLCN10Aug 24, 2021
FLG3Aug 24, 2021
FLNA38Dec 16, 2021
FLNB14Dec 16, 2021
FLNC5Aug 24, 2021
FLNC-AS11Aug 24, 2021
FLT41Aug 24, 2021
FNIP11Aug 24, 2021
FOXE31Aug 24, 2021
FOXP11Aug 24, 2021
FRAS11Aug 24, 2021
FTL1Aug 24, 2021
FUS12Aug 24, 2021
FXN1Aug 24, 2021
G6PC11Apr 9, 2018
G6PD2Aug 24, 2021
GAA3Aug 24, 2021
GABRA11Aug 24, 2021
GABRG21Aug 24, 2021
GALT1Aug 24, 2021
GAN1Aug 24, 2021
GATA22Aug 24, 2021
GATA47Aug 24, 2021
GBA3Aug 24, 2021
GBE12Aug 24, 2021
GDAP11Dec 16, 2021
GFAP1Aug 24, 2021
GFPT12Dec 16, 2021
GH-LCR1Aug 24, 2021
GIGYF26Apr 9, 2018
GJA11Aug 24, 2021
GJA81Aug 24, 2021
GJB25Aug 24, 2021
GLDC1Aug 24, 2021
GLI32Aug 24, 2021
GNAI21Aug 24, 2021
GNAS1Aug 24, 2021
GNB51Aug 24, 2021
GORAB3Oct 15, 2021
GORAB-AS11Aug 24, 2021
GPC34Aug 24, 2021
GPSM21Aug 24, 2021
GREM11Aug 24, 2021
GRIN2B1Aug 24, 2021
GRN14Dec 16, 2021
GYS11Aug 24, 2021
H4C51Aug 24, 2021
HAS31Aug 24, 2021
HERC21Aug 24, 2021
HEY21Dec 16, 2021
HFE1Aug 24, 2021
HFE-AS11Aug 24, 2021
HMBS1Aug 24, 2021
HNF1A1Dec 16, 2021
HNF4A1Dec 16, 2021
HNRNPA12Aug 24, 2021
HNRNPA2B13Aug 24, 2021
HNRNPH21Aug 24, 2021
HOXB131Aug 24, 2021
HPS32Aug 24, 2021
HRAS1Aug 24, 2021
HSD17B41Aug 24, 2021
HSF41Oct 15, 2021
HSPG21Aug 24, 2021
HTRA18Dec 16, 2021
HTT1Aug 24, 2021
HUWE12Aug 24, 2021
HYDIN1Aug 24, 2021
IDUA1Aug 24, 2021
IFIH11Aug 24, 2021
IFITM51Apr 9, 2018
IFT742Oct 15, 2021
IGHMBP23Oct 15, 2021
IL17F1Dec 16, 2021
IL1RN1Aug 24, 2021
INS1Apr 9, 2018
IRF2BPL1Aug 24, 2021
IRS13Apr 9, 2018
ITK2Apr 9, 2018
ITM2B1Aug 24, 2021
JAG11Oct 15, 2021
KBTBD132Aug 24, 2021
KCNB11Dec 16, 2021
KCNC31Aug 24, 2021
KCNJ111Aug 24, 2021
KCNQ11Aug 24, 2021
KCNQ21Aug 24, 2021
KCNQ31Dec 16, 2021
KDELR21Aug 24, 2021
KDM5C1Aug 24, 2021
KDM6A1Aug 24, 2021
KIF1A1Aug 24, 2021
KIF1C2Oct 15, 2021
KIF5A1Aug 24, 2021
KIT6Dec 16, 2021
KLLN1Aug 24, 2021
KMT2A1Aug 24, 2021
KMT2B1Oct 15, 2021
KMT2D3Dec 16, 2021
KRAS1Aug 24, 2021
LAMA12Aug 24, 2021
LAMA21Aug 24, 2021
LAMB41Aug 24, 2021
LAMC314Aug 24, 2021
LARGE11Aug 24, 2021
LDB34Dec 16, 2021
LDLR1Aug 24, 2021
LEP1Aug 24, 2021
LHX31Aug 24, 2021
LIFR2Aug 24, 2021
LINC013891Aug 24, 2021
LIPA1Aug 24, 2021
LITAF1Aug 24, 2021
LMNA1Aug 24, 2021
LMOD11Oct 15, 2021
LOC1005060711Aug 24, 2021
LOC1005073463Dec 16, 2021
LOC1014482026Aug 24, 2021
LOC1027235663Aug 24, 2021
LOC1027240581Aug 24, 2021
LOC1053722731Aug 24, 2021
LOC1066279813Aug 24, 2021
LOC1067808001Aug 24, 2021
LOC1067808033Oct 15, 2021
LOC1073033389Aug 24, 2021
LOC1073033401Aug 24, 2021
LOC1073723152Aug 24, 2021
LOC1079822341Oct 15, 2021
LOC1079880323Aug 24, 2021
LOC1086639871Aug 24, 2021
LOC1089031482Aug 24, 2021
LOC1100112161Aug 24, 2021
LOC1101214861Dec 16, 2021
LOC1111881542Aug 24, 2021
LOC1129975401Aug 24, 2021
LOC1139399441Dec 16, 2021
LOC1170387761Aug 24, 2021
LOX1Oct 15, 2021
LRBA1Dec 16, 2021
LRP21Oct 15, 2021
LRP533Dec 16, 2021
LRRC561Aug 24, 2021
LRRC8A1Dec 16, 2021
LRRK223Aug 24, 2021
LTBP26Dec 16, 2021
LTBP33Dec 16, 2021
LTBP46Aug 24, 2021
LZTR16Aug 24, 2021
MAGEL21Aug 24, 2021
MAP2K11Aug 24, 2021
MAP3K71Aug 24, 2021
MAP3K81Aug 24, 2021
MAPT23Oct 15, 2021
MAT2A1Oct 15, 2021
MAX2Aug 24, 2021
MBD41Dec 16, 2021
MBTPS21Aug 24, 2021
MCFD21Aug 24, 2021
MCHR11Aug 24, 2021
MCM92Dec 16, 2021
MCOLN11Aug 24, 2021
MECP23Aug 24, 2021
MEFV2Aug 24, 2021
MEN14Aug 24, 2021
MET8Aug 24, 2021
METTL231Oct 15, 2021
MFAP51Aug 24, 2021
MFRP2Aug 24, 2021
MICU11Aug 24, 2021
MIR60841Aug 24, 2021
MIR68861Aug 24, 2021
MITF4Oct 15, 2021
MKKS3Aug 24, 2021
MKS11Aug 24, 2021
MLH121Oct 15, 2021
MLH31Oct 15, 2021
MMACHC1Aug 24, 2021
MOCS11Aug 24, 2021
MRE115Dec 16, 2021
MSH221Aug 24, 2021
MSH34Oct 15, 2021
MSH625Oct 15, 2021
MTHFR1Aug 24, 2021
MTMR103Dec 16, 2021
MUS811Apr 9, 2018
MUSK2Aug 24, 2021
MUTYH11Oct 15, 2021
MVK1Aug 24, 2021
MYBPC33Aug 24, 2021
MYCN1Aug 24, 2021
MYCNOS1Aug 24, 2021
MYH1160Dec 16, 2021
MYH23Aug 24, 2021
MYH61Aug 24, 2021
MYH71Aug 24, 2021
MYHAS3Aug 24, 2021
MYLK54Aug 24, 2021
MYLK-AS14Aug 24, 2021
MYO5B1Aug 24, 2021
MYORG1Aug 24, 2021
MYOT1Aug 24, 2021
NAA381Aug 24, 2021
NAGLU2Aug 24, 2021
NBAS15Dec 16, 2021
NBN10Dec 16, 2021
NDE128Dec 16, 2021
NDP1Aug 24, 2021
NDP-AS11Aug 24, 2021
NDUFS41Dec 16, 2021
NDUFS71Aug 24, 2021
NEB2Dec 16, 2021
NEFH8Apr 9, 2018
NF128Oct 15, 2021
NIPBL2Aug 24, 2021
NLGN31Oct 15, 2021
NLGN4X1Aug 24, 2021
NOTCH183Dec 16, 2021
NOTCH337Dec 16, 2021
NPC159Oct 15, 2021
NPC25Aug 24, 2021
NPHP31Aug 24, 2021
NPHP3-ACAD111Aug 24, 2021
NPHS21Aug 24, 2021
NPR21Dec 16, 2021
NSD11Aug 24, 2021
NTHL11Aug 24, 2021
OCA21Aug 24, 2021
ODAD11Aug 24, 2021
ODAD21Aug 24, 2021
OGG12Aug 24, 2021
OPTN5Aug 24, 2021
ORC61Aug 24, 2021
OSGEP2Aug 24, 2021
OTOGL1Apr 9, 2018
P3H13Aug 24, 2021
PACS11Apr 9, 2018
PAH3Aug 24, 2021
PAK61Dec 16, 2021
PALB232Dec 16, 2021
PANK23Dec 16, 2021
PARK72Aug 24, 2021
PAX51Dec 16, 2021
PAX61Aug 24, 2021
PCCA1Oct 15, 2021
PCCB1Aug 24, 2021
PCDH192Aug 24, 2021
PCNT1Aug 24, 2021
PDGFB6Aug 24, 2021
PDGFRA3Aug 24, 2021
PDGFRB23Dec 16, 2021
PDHX1Aug 24, 2021
PDSS11Apr 9, 2018
PEX11Aug 24, 2021
PEX71Aug 24, 2021
PFN11Aug 24, 2021
PHKA12Aug 24, 2021
PHOX2B3Aug 24, 2021
PIGG1Aug 24, 2021
PIGN1Aug 24, 2021
PIK3CA6Aug 24, 2021
PIK3CD1Aug 24, 2021
PINK16Aug 24, 2021
PINK1-AS3Aug 24, 2021
PJVK1Aug 24, 2021
PKD2L2-DT1Aug 24, 2021
PKHD13Oct 15, 2021
PLA2G66Aug 24, 2021
PLEC4Aug 24, 2021
PLEKHG51Aug 24, 2021
PLG1Aug 24, 2021
PLOD122Dec 16, 2021
PLOD23Aug 24, 2021
PLOD31Aug 24, 2021
PLS32Aug 24, 2021
PMM24Aug 24, 2021
PMS222Oct 15, 2021
PNPLA11Aug 24, 2021
POLD126Aug 24, 2021
POLE42Oct 15, 2021
POLG11Aug 24, 2021
POLH3Dec 16, 2021
POLR1C3Dec 16, 2021
POLR3B1Apr 9, 2018
POMGNT11Aug 24, 2021
POT12Aug 24, 2021
PPT14Aug 24, 2021
PRDM101Aug 24, 2021
PRDM51Aug 24, 2021
PRKAR1A1Dec 16, 2021
PRKAR1B10Dec 16, 2021
PRKG18Aug 24, 2021
PRKN6Aug 24, 2021
PRKRA3Aug 24, 2021
PRNP6Aug 24, 2021
PROK21Aug 24, 2021
PRPF311Aug 24, 2021
PRPH2Aug 24, 2021
PRRT22Dec 16, 2021
PRX1Aug 24, 2021
PSEN15Dec 16, 2021
PSEN212Aug 24, 2021
PSENEN1Apr 9, 2018
PTBP11Aug 24, 2021
PTCH119Dec 16, 2021
PTCH27Dec 16, 2021
PTCHD31Aug 24, 2021
PTEN7Dec 16, 2021
PTPN115Dec 16, 2021
PTPRJ1Aug 24, 2021
PYCR12Aug 24, 2021
PYGM4Aug 24, 2021
RAB27A1Aug 24, 2021
RAD504Dec 16, 2021
RAD51C5Oct 15, 2021
RAD51D2Aug 24, 2021
RAD51L3-RFFL2Aug 24, 2021
RAF12Oct 15, 2021
RAG13Aug 24, 2021
RANBP21Aug 24, 2021
RAPSN1Aug 24, 2021
RARS21Aug 24, 2021
RB12Aug 24, 2021
RECQL419Dec 16, 2021
REEP12Oct 15, 2021
REST1Dec 16, 2021
RET5Aug 24, 2021
RHBDF25Aug 24, 2021
RIF12Dec 16, 2021
RIN23Aug 24, 2021
RIPPLY21Aug 24, 2021
RNASE41Aug 24, 2021
RNASEH2A1Aug 24, 2021
RNASEH2B1Aug 24, 2021
RNF434Dec 16, 2021
ROBO31Aug 24, 2021
RPL36A-HNRNPH21Aug 24, 2021
RSPH4A1Aug 24, 2021
RUNX11Apr 9, 2018
RYR18Dec 16, 2021
S100PBP1Aug 24, 2021
SACS1Aug 24, 2021
SAR1B1Aug 24, 2021
SATB23Aug 24, 2021
SBDS4Aug 24, 2021
SCAMP41Oct 15, 2021
SCARF210Aug 24, 2021
SCN1A2Aug 24, 2021
SCN1A-AS11Aug 24, 2021
SCN4A1Aug 24, 2021
SCN9A1Aug 24, 2021
SCNN1A1Aug 24, 2021
SDHA19Aug 24, 2021
SDHAF21Aug 24, 2021
SDHB10Dec 16, 2021
SDHC2Aug 24, 2021
SDHD4Aug 24, 2021
SEC24D3Dec 16, 2021
SELENON1Aug 24, 2021
SEPTIN91Aug 24, 2021
SERPINA11Aug 24, 2021
SERPINF13Dec 16, 2021
SERPINH16Aug 24, 2021
SERPINI18Aug 24, 2021
SETBP11Aug 24, 2021
SETX46Dec 16, 2021
SHANK21Dec 16, 2021
SIGMAR15Dec 16, 2021
SKI13Aug 24, 2021
SLC18A22Aug 24, 2021
SLC19A19Aug 24, 2021
SLC20A215Aug 24, 2021
SLC24A11Aug 24, 2021
SLC25A132Aug 24, 2021
SLC26A11Aug 24, 2021
SLC26A23Aug 24, 2021
SLC26A41Aug 24, 2021
SLC2A12Aug 24, 2021
SLC2A1010Aug 24, 2021
SLC30A101Aug 24, 2021
SLC39A132Aug 24, 2021
SLC3A11Aug 24, 2021
SLC6A11Aug 24, 2021
SLC6A191Aug 24, 2021
SLC6A36Aug 24, 2021
SLC6A81Aug 24, 2021
SLX410Dec 16, 2021
SMAD39Aug 24, 2021
SMAD48Dec 16, 2021
SMARCA412Dec 16, 2021
SMARCAL11Oct 15, 2021
SMARCB11Aug 24, 2021
SMPD11Aug 24, 2021
SNCA2Aug 24, 2021
SNCB2Aug 24, 2021
SOD12Dec 16, 2021
SORL125Aug 24, 2021
SORL1-AS11Aug 24, 2021
SOS18Aug 24, 2021
SOX51Aug 24, 2021
SP72Apr 9, 2018
SPAST2Dec 16, 2021
SPATA51Aug 24, 2021
SPG1143Dec 16, 2021
SPG72Aug 24, 2021
SPINK12Aug 24, 2021
SQSTM113Aug 24, 2021
SRCAP1Aug 24, 2021
SRD5A21Aug 24, 2021
SRGAP31Aug 24, 2021
STK1114Dec 16, 2021
STXBP12Dec 16, 2021
SUFU4Aug 24, 2021
SUOX1Apr 9, 2018
SYNE15Aug 24, 2021
SYNGAP14Oct 15, 2021
SYNJ16Aug 24, 2021
TAB21Dec 16, 2021
TAF12Aug 24, 2021
TAPT11Aug 24, 2021
TARDBP5Dec 16, 2021
TBK112Aug 24, 2021
TCAP1Aug 24, 2021
TENT5A1Aug 24, 2021
TERT10Dec 16, 2021
TFE31Aug 24, 2021
TGFB25Oct 15, 2021
TGFB36Dec 16, 2021
TGFBR19Oct 15, 2021
TGFBR213Dec 16, 2021
TGM11Aug 24, 2021
TH6Aug 24, 2021
TH2LCRR1Aug 24, 2021
THG1L1Aug 24, 2021
TK21Dec 16, 2021
TMEM106B1Aug 24, 2021
TMEM126B1Oct 15, 2021
TMEM1271Aug 24, 2021
TMEM38B3Aug 24, 2021
TMPRSS31Aug 24, 2021
TMX21Aug 24, 2021
TMX2-CTNND11Aug 24, 2021
TNFRSF13B2Oct 15, 2021
TNNC11Aug 24, 2021
TNR1Aug 24, 2021
TNXB26Dec 16, 2021
TOE11Aug 24, 2021
TP535Aug 24, 2021
TPP12Aug 24, 2021
TRAPPC111Aug 24, 2021
TREM211Dec 16, 2021
TREX12Dec 16, 2021
TRIM221Dec 16, 2021
TRIM322Dec 16, 2021
TRIM374Dec 16, 2021
TRIO1Aug 24, 2021
TROAP-AS12Aug 24, 2021
TRPV42Aug 24, 2021
TSC117Oct 15, 2021
TSC247Dec 16, 2021
TSEN543Aug 24, 2021
TSPAN11Aug 24, 2021
TTBK21Aug 24, 2021
TTC21B1Aug 24, 2021
TTC21B-AS11Aug 24, 2021
TTC371Aug 24, 2021
TTC84Dec 16, 2021
TTN27Oct 15, 2021
TTN-AS115Oct 15, 2021
TUBA1A1Apr 9, 2018
TUBB31Aug 24, 2021
TWIST12Aug 24, 2021
TYROBP4Dec 16, 2021
UBAP11Aug 24, 2021
UBQLN23Aug 24, 2021
UCHL12Aug 24, 2021
UNC13A1Aug 24, 2021
UROD1Aug 24, 2021
USH2A1Aug 24, 2021
VAPB1Aug 24, 2021
VCAN7Dec 16, 2021
VCAN-AS13Aug 24, 2021
VCP16Dec 16, 2021
VHL4Aug 24, 2021
VPS13A34Dec 16, 2021
VPS13B1Dec 16, 2021
VPS353Dec 16, 2021
VPS545Aug 24, 2021
VRK21Aug 24, 2021
VSX21Aug 24, 2021
VWF2Aug 24, 2021
WAC1Dec 16, 2021
WAS2Dec 16, 2021
WDR451Aug 24, 2021
WFS13Dec 16, 2021
WNT10A1Aug 24, 2021
WRN11Aug 24, 2021
WT16Oct 15, 2021
XPC3Aug 24, 2021
XPR12Aug 24, 2021
XYLT12Oct 15, 2021
XYLT21Oct 15, 2021
YARS11Aug 24, 2021
YARS21Aug 24, 2021
ZBTB201Aug 24, 2021
ZC4H21Aug 24, 2021
ZDHHC241Aug 24, 2021
ZNF2763Aug 24, 2021
ZNF46951Dec 16, 2021
ZSWIM61Aug 24, 2021

Condition

NameSubmissionsLast Updated
Acne inversa, familial, 21Apr 9, 2018
Amyotrophic lateral sclerosis type 18Apr 9, 2018
Amyotrophic lateral sclerosis type 102Apr 9, 2018
Aortic aneurysm, familial thoracic 430Apr 9, 2018
Arterial tortuosity syndrome5Apr 9, 2018
Ataxia-telangiectasia syndrome19Apr 9, 2018
Ataxia-telangiectasia-like disorder 12Apr 9, 2018
Autoimmune lymphoproliferative syndrome type 13Apr 9, 2018
Autosomal recessive DOPA responsive dystonia5Apr 9, 2018
Autosomal recessive cutis laxa type 1B6Apr 9, 2018
Autosomal recessive polycystic kidney disease1Apr 9, 2018
Bardet-Biedl syndrome 117Apr 9, 2018
Breast-ovarian cancer, familial 11Apr 9, 2018
Breast-ovarian cancer, familial 23Apr 9, 2018
Brittle cornea syndrome 119Apr 9, 2018
Ceroid lipofuscinosis, neuronal, 134Apr 9, 2018
Classic homocystinuria4Apr 9, 2018
Cleft palate, isolated1Apr 9, 2018
Coenzyme Q10 deficiency, primary, 21Apr 9, 2018
Coffin-Siris syndrome 11Apr 9, 2018
Congenital contractural arachnodactyly24Apr 9, 2018
Congenital disorder of glycosylation, type Ia2Apr 9, 2018
Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities5Apr 9, 2018
Cutis laxa, autosomal recessive IIIA1Apr 9, 2018
Deafness, autosomal recessive 84b1Apr 9, 2018
Dermatofibrosarcoma protuberans3Apr 9, 2018
Dystonia 161Apr 9, 2018
Ehlers-Danlos syndrome dermatosparaxis type10Apr 9, 2018
Ehlers-Danlos syndrome progeroid type3Apr 9, 2018
Familial platelet disorder with associated myeloid malignancy1Apr 9, 2018
Fanconi anemia, complementation group A1Apr 9, 2018
Glaucoma 1, open angle, p6Apr 9, 2018
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA1Apr 9, 2018
Hereditary diffuse leukoencephalopathy with spheroids8Apr 9, 2018
Hereditary nonpolyposis colorectal cancer type 415Apr 9, 2018
Hereditary nonpolyposis colorectal cancer type 510Apr 9, 2018
Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism1Apr 9, 2018
Idiopathic basal ganglia calcification 18Apr 9, 2018
Imerslund-Gräsbeck syndrome1Apr 9, 2018
Isolated sulfite oxidase deficiency1Apr 9, 2018
KBG syndrome1Apr 9, 2018
Knobloch syndrome 17Apr 9, 2018
Lissencephaly due to TUBA1A mutation1Apr 9, 2018
Loeys-Dietz syndrome 42Apr 9, 2018
Lymphoproliferative syndrome 12Apr 9, 2018
Lynch syndrome I15Apr 9, 2018
Lynch syndrome II3Apr 9, 2018
Multiple endocrine neoplasia, type 41Apr 9, 2018
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 111Apr 9, 2018
Neuroblastoma 38Apr 9, 2018
Neurodegeneration with brain iron accumulation 42Apr 9, 2018
Neuronal ceroid lipofuscinosis 1010Apr 9, 2018
Niemann-Pick disease type C129Apr 9, 2018
Nijmegen breakage syndrome-like disorder1Apr 9, 2018
Osteogenesis imperfecta type 122Apr 9, 2018
Osteogenesis imperfecta type 51Apr 9, 2018
Paget disease of bone 2, early-onset6Apr 9, 2018
Parkinson disease 116Apr 9, 2018
Parkinson disease 155Apr 9, 2018
Parkinson disease 51Apr 9, 2018
Parkinsonism-dystonia, infantile, 15Apr 9, 2018
Phenylketonuria1Apr 9, 2018
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 14Apr 9, 2018
Pyridoxine-dependent epilepsy1Apr 9, 2018
Renal cell carcinoma, nonpapillary1Apr 9, 2018
Schuurs-hoeijmakers syndrome1Apr 9, 2018
Shwachman-Diamond syndrome 12Apr 9, 2018
Spastic paraplegia 11, autosomal recessive17Apr 9, 2018
Spastic paraplegia 354Apr 9, 2018
Spastic paraplegia 4, autosomal dominant1Apr 9, 2018
Spinocerebellar ataxia type 28Apr 9, 2018
Spondyloepiphyseal dysplasia with congenital joint dislocations2Apr 9, 2018
Telangiectasia, hereditary hemorrhagic, type 24Apr 9, 2018
Type 2 diabetes mellitus3Apr 9, 2018
Van den Ende-Gupta syndrome3Apr 9, 2018
Wagner syndrome4Apr 9, 2018
Weill-Marchesani syndrome 11Apr 9, 2018
Xeroderma pigmentosum variant type2Apr 9, 2018
Xeroderma pigmentosum, group G13Apr 9, 2018
not provided1890Dec 16, 2021
not specified1437Dec 16, 2021
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