ClinVar Miner

Variants studied for arterial disorder

Included ClinVar conditions (119):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign association protective risk factor not provided total
732 214 1665 1076 624 5 4 4 273 4431

Gene and significance breakdown #

Total genes and gene combinations: 234
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association protective risk factor not provided total
ELN 106 31 332 262 76 0 0 0 3 771
BMPR2 407 47 141 28 60 0 0 0 68 697
NOTCH1 7 9 260 187 181 0 0 0 7 631
SMAD6 8 9 408 182 14 0 0 0 1 611
TBX5 65 9 78 105 27 0 0 0 0 284
COL5A1 2 1 18 15 144 0 0 0 0 168
KCNK3 7 2 84 73 6 0 0 0 0 167
SMAD9 9 3 45 57 13 0 0 0 0 122
COL4A1 2 4 47 62 1 0 0 0 0 116
ADA2 14 6 46 15 0 0 0 0 0 80
TBX4 3 27 14 0 0 0 0 0 34 74
SARS2 3 2 47 12 8 0 0 0 1 72
CAV1 4 1 12 28 11 0 0 0 0 54
COL5A1, LOC101448202 1 1 7 3 41 0 0 0 0 51
BMPR1A 0 0 0 0 0 0 0 0 42 42
​intergenic 2 1 1 0 0 0 0 0 27 31
AGT 0 2 12 11 1 0 0 0 0 26
LOC126860794, NOTCH1 1 1 4 9 9 0 0 0 1 25
ROBO4 2 15 10 1 0 0 0 0 0 25
ACVRL1 17 6 1 0 0 0 0 0 0 22
LOC130064387, SARS2 0 1 14 1 2 0 0 0 1 18
BNC2 0 0 0 0 0 0 0 0 14 14
AGTR1 2 1 6 2 0 0 0 0 0 11
LRP6 5 0 2 0 2 0 0 0 1 10
CAV1, LOC129999169 0 0 1 6 1 0 0 0 0 8
LOC130009576, SMAD9 0 0 7 1 0 0 0 0 0 8
BMPR2, LOC129935435 6 0 0 0 0 0 0 0 0 6
BNC2, LOC126860585 0 0 0 0 0 0 0 0 6 6
KCNA5 0 0 2 2 2 0 0 0 0 6
KLF6 0 0 0 0 0 0 0 0 6 6
NOTCH3 0 0 3 1 1 0 0 0 1 6
ATP13A3 3 2 0 0 0 0 0 0 0 5
BMPR2, LOC129935436 3 2 0 0 0 0 0 0 0 5
NF1 0 5 0 0 0 0 0 0 0 5
APOC3 0 0 0 0 0 0 4 0 0 4
BMPR2, LOC129935432 0 0 3 1 0 0 0 0 0 4
CELA2A 4 0 0 0 0 0 0 0 0 4
COL4A1, LOC126861856 0 0 2 2 0 0 0 0 0 4
COL4A4 0 2 2 0 0 0 0 0 0 4
CORIN 3 0 0 1 0 0 0 0 0 4
EIF2AK4 2 1 0 0 1 0 0 0 0 4
ENG 3 0 0 0 1 0 0 0 0 4
ENG, LOC102723566 1 2 0 0 1 0 0 0 0 4
GDF2 0 1 2 0 1 0 0 0 0 4
JAG1 0 4 0 0 0 0 0 0 0 4
LOC130003020, NOTCH1 0 0 3 0 1 0 0 0 0 4
PKD1 2 2 0 0 0 0 0 0 0 4
SMAD3 0 0 1 0 3 0 0 0 0 4
TBX20 0 0 4 0 0 0 0 0 0 4
TGFBR2 0 0 0 0 3 0 0 0 1 4
ABCA3 0 2 1 0 0 0 0 0 0 3
BMPR2, LOC129935435, LOC129935436 3 0 0 0 0 0 0 0 0 3
FBN1 1 0 2 0 0 0 0 0 0 3
NOS3 0 0 1 1 1 0 0 0 0 3
PAH 3 0 0 0 0 0 0 0 0 3
PTGIS 1 0 2 0 0 0 0 0 0 3
SMAD4 0 0 3 0 0 0 0 0 0 3
ARIH1 0 0 0 0 0 2 0 0 0 2
BMPR1B 0 0 1 1 0 0 0 0 0 2
BMPR2, LOC129935429, LOC129935430, LOC129935431, LOC129935432, LOC129935433, LOC129935434, LOC129935435 2 0 0 0 0 0 0 0 0 2
CETP 0 0 0 0 2 0 0 0 0 2
DARS2 2 0 0 0 0 0 0 0 0 2
DSP 1 0 1 0 0 0 0 0 0 2
ELN, LOC113748410 2 0 0 0 0 0 0 0 0 2
FAT1 0 0 2 0 0 0 0 0 0 2
HYDIN 0 1 1 0 0 0 0 0 0 2
MEF2A 1 0 0 0 1 0 0 0 0 2
MIR4673, NOTCH1 0 0 0 1 1 0 0 0 0 2
MT-ATP6 1 1 0 0 0 0 0 0 0 2
MYLK 0 0 1 1 0 0 0 0 0 2
OBSL1 0 0 2 0 0 0 0 0 0 2
RNF213 0 1 1 0 0 0 0 0 0 2
SELE 0 0 0 0 2 0 0 0 0 2
STOX1 1 0 0 0 1 0 0 1 0 2
ABCA2, AGPAT2, AJM1, ANAPC2, ARRDC1, C8G, C9orf163, CACNA1B, CCDC183, CLIC3, CYSRT1, DIPK1B, DPH7, DPP7, EDF1, EGFL7, EHMT1, ENTPD2, ENTPD8, ENTR1, EXD3, FAM166A, FBXW5, FUT7, GRIN1, INPP5E, LCN10, LCN12, LCN15, LCN6, LCN8, LCNL1, LINC02908, LOC651337, LRRC26, MAMDC4, MAN1B1, MIR126, MRPL41, NDOR1, NELFB, NOTCH1, NOXA1, NPDC1, NRARP, NSMF, PAXX, PHPT1, PMPCA, PNPLA7, PTGDS, RABL6, RNF208, RNF224, SAPCD2, SEC16A, SLC34A3, SNAPC4, SNHG7, SSNA1, STPG3, TMEM141, TMEM203, TMEM210, TOR4A, TPRN, TRAF2, TUBB4B, UAP1L1, ZMYND19 1 0 0 0 0 0 0 0 0 1
ABCC6, NOMO3 0 0 1 0 0 0 0 0 0 1
ABCC8 0 0 1 0 0 0 0 0 0 1
ABHD11, CLDN3, CLDN4, EIF4H, ELN, LIMK1, METTL27, TMEM270 1 0 0 0 0 0 0 0 0 1
ABI2, ALS2, AOX1, BMPR2, BZW1, C2CD6, CARF, CASP10, CASP8, CD28, CDK15, CFLAR, CLK1, CTLA4, CYP20A1, FAM117B, FLACC1, FZD7, HYCC2, ICA1L, ICOS, KCTD18, MPP4, NBEAL1, NDUFB3, NIF3L1, NOP58, ORC2, PPIL3, RAPH1, SGO2, SPATS2L, STRADB, SUMO1, TMEM237, TRAK2, WDR12 1 0 0 0 0 0 0 0 0 1
ABI2, BMPR2, CARF, CD28, CTLA4, CYP20A1, FAM117B, FZD7, ICA1L, ICOS, NBEAL1, NOP58, RAPH1, SUMO1, WDR12 1 0 0 0 0 0 0 0 0 1
ABR, BHLHA9, LOC130059873, LOC130059874, LOC130059875, LOC130059876, TRARG1 0 0 0 0 0 0 0 0 1 1
ACSL3, LOC129935685 0 0 0 0 0 0 0 0 1 1
ACTA2 0 0 0 0 1 0 0 0 0 1
ADGRG7, LOC129937149, LOC129937150, TFG 0 0 0 0 0 0 0 0 1 1
AGAP10, ANXA8L1, NPY4R 0 0 0 0 0 0 0 0 1 1
AKAP12 0 0 0 0 0 0 0 0 1 1
AKR1C3 0 0 0 0 0 0 0 0 1 1
AKR1C4 0 0 0 0 0 0 0 0 1 1
ANKFN1 0 0 0 0 0 0 0 0 1 1
ARF1, BTNL10, C1orf35, GJC2, GUK1, H2AC25, H2BC26, H3-4, IBA57, MRPL55, OBSCN, RHOU, RNF187, TRIM11, TRIM17, WNT3A 0 0 1 0 0 0 0 0 0 1
ARHGAP11B, ARHGAP11B-DT, CHRFAM7A, GOLGA8H, GOLGA8J, GOLGA8Q, GOLGA8R, GOLGA8T, LINC02249, LOC100996413, LOC106736464, LOC106736465, LOC106736468, LOC106736476, LOC106736480, LOC106783506 0 0 0 0 0 0 0 0 1 1
ARHGAP24, LOC126807102, LOC126807103, LOC129992790 0 0 0 0 0 0 0 0 1 1
ARIH1, LOC130057478 0 0 0 0 0 1 0 0 0 1
ARL17A, ARL17B, KANSL1, LOC112533643, LOC126862577, LOC129390878, LRRC37A, LRRC37A2 0 0 0 0 0 0 0 0 1 1
ARPP21, LOC129936457 0 0 0 0 0 0 0 0 1 1
ASCL3 0 0 0 0 0 0 0 0 1 1
ATP8B3, LOC130062987 0 0 0 0 0 0 0 0 1 1
BAZ2B, LOC120977012, LOC132088769 0 0 0 0 0 0 0 0 1 1
BLK, CTSB, DEFB134, DEFB135, DEFB136, FDFT1, GATA4, NEIL2 0 1 0 0 0 0 0 0 0 1
BMPR2, CARF, FAM117B, ICA1L, NBEAL1, WDR12 0 1 0 0 0 0 0 0 0 1
BMPR2, LOC129388983, LOC129935429, LOC129935430, LOC129935431, LOC129935432, LOC129935433, LOC129935434, LOC129935435, NOP58, SNORD11, SNORD11B, SNORD70, SNORD70B 1 0 0 0 0 0 0 0 0 1
BMPR2, LOC129935434 0 0 0 1 1 0 0 0 0 1
BMPR2, NOP58 1 0 0 0 0 0 0 0 0 1
BMPR2, NOP58, SUMO1 0 1 0 0 0 0 0 0 0 1
BPIFA3, LOC126863015 0 0 0 0 0 0 0 0 1 1
CACNA1C 0 0 0 0 0 0 0 0 1 1
CATSPER2, LOC130056948, LOC130056949, STRC 0 0 0 0 0 0 0 0 1 1
CAV1, LOC129999168 0 0 0 1 0 0 0 0 0 1
CD160, PDZK1, RNF115 0 0 0 0 0 0 0 0 1 1
COL1A1 1 0 0 0 0 0 0 0 0 1
COL1A2 0 1 0 0 0 0 0 0 0 1
COL3A1 0 0 1 0 0 0 0 0 0 1
COL4A5 1 0 0 0 0 0 0 0 0 1
CORIN, LOC101927179 0 0 1 0 0 0 0 0 0 1
CTDSPL 0 0 0 0 0 0 0 0 1 1
CYFIP1, NIPA1, NIPA2, TUBGCP5 1 0 0 0 0 0 0 0 0 1
CYP2E1, LOC110599585, LOC126861107, LOC129390242, LOC130005033, LOC130005034, LOC130005035, LOC130005036, SCART1, SYCE1 0 0 0 0 0 0 0 0 1 1
CYP3A5, ZSCAN25 0 0 0 0 0 0 0 0 1 1
DGCR6, PRODH, USP18 0 0 1 0 0 0 0 0 0 1
DIPK1A, RPL5 1 0 0 0 0 0 0 0 0 1
DNAJB13, LOC130006402, LOC130006403, LOC130006404, LOC130006405, LOC130006406, LOC130006407, LOC130006408, PAAF1, UCP2 0 0 0 0 0 0 0 0 1 1
DOK6 0 0 0 0 0 0 0 0 1 1
DPY19L1, NPSR1, TBX20 0 0 1 0 0 0 0 0 0 1
DPY19L2, LOC108720144, LOC130008194 0 0 0 0 0 0 0 0 1 1
DSG1 0 1 0 0 0 0 0 0 0 1
EHD4, LOC105370792, LOC130056904, SPTBN5 0 0 0 0 0 0 0 0 1 1
F12 1 0 0 0 0 0 0 0 0 1
FBN3 0 0 1 0 0 0 0 0 0 1
FOXP1 0 0 0 0 0 1 0 0 0 1
FRG2C, LINC00960, LINC02018, LOC112935961, LOC129937069, LOC129937070, LOC129937071, LOC129937072, LOC129937073, MIR1324 0 0 0 0 0 0 0 0 1 1
GATA4 0 1 0 0 0 0 0 0 0 1
GATA5 0 0 1 0 0 0 0 0 0 1
GATA6 0 1 0 0 0 0 0 0 0 1
GBA1, LOC106627981 0 0 0 0 0 0 0 1 0 1
GJB2 0 1 0 0 0 0 0 0 0 1
GRIN2A 0 0 0 0 0 0 0 0 1 1
HCG26, HCP5, LINC01149, LOC121132677, MICA, MICB-DT 0 0 0 0 0 0 0 0 1 1
HRAS, LRRC56 0 0 0 1 0 0 0 0 0 1
HS3ST1 0 0 0 0 0 0 0 1 0 1
IMMP2L 0 0 0 0 0 0 0 0 1 1
INF2 0 1 0 0 0 0 0 0 0 1
ITSN1 0 0 0 0 0 0 0 0 1 1
KAT6B 1 0 0 0 0 0 0 0 0 1
KIF26B 0 0 0 0 0 0 0 0 1 1
KLF12 0 0 1 0 0 0 0 0 0 1
KSR2 0 0 1 0 0 0 0 0 0 1
LCTL, SMAD3, SMAD6, ZWILCH 1 0 0 0 0 0 0 0 0 1
LDLR 1 0 0 0 0 0 0 0 0 1
LINC00659, NTSR1 0 0 0 0 0 0 0 0 1 1
LINC01237, LINC01238, LINC01880, LINC01881, LINC03100, LOC122889016, LOC132205954, LOC285097 0 0 0 0 0 0 0 0 1 1
LINC01322 0 0 0 0 0 0 0 0 1 1
LINC01957, LOC101927078 0 0 0 0 0 0 0 0 1 1
LINC02018, LOC112935961, LOC129937069, LOC129937070, LOC129937071, LOC129937072 0 0 0 0 0 0 0 0 1 1
LINC02089, LINC02876 0 0 0 0 0 0 0 0 1 1
LINC02112, TAS2R1 0 0 0 0 0 0 0 0 1 1
LMNTD1 0 0 0 0 0 0 0 0 1 1
LOC100505915, LOC112340378, LOC129390770, MIR3180-4, MIR6511B2, MPV17L, MPV17L-BMERB1, NPIPA5, PDXDC1, RRN3 0 0 0 0 0 0 0 0 1 1
LOC102724465 0 0 0 0 0 0 0 0 1 1
LOC105371933, LOC126862540, LOC130060718, LOC130060719, LOC130060720, LOC130060721, LOC130060722, LOC130060723, LOC130060724, LOC130060725, SLFN11, SLFN12, SLFN13 0 0 0 0 0 0 0 0 1 1
LOC108281140, LOC132088707, MEGF6 0 0 0 0 0 0 0 0 1 1
LOC108942766, LOC116268429, LOC124625898, LOC126861438, LOC129390395, LOC130007316, LOC130007317, NANOG, SLC2A14, SLC2A3 0 0 0 0 0 0 0 0 1 1
LOC110120917, LOC111413015, LOC111413043, LOC121847954, LOC125110346, LOC125110347, LOC126862158, LOC126862159, LOC126862160, LOC130057347, LOC130057348, LOC130057349, LOC130057350, LOC130057351, LOC130057352, LOC132090322, LOC132090323, SMAD3, SMAD3-DT, SMAD6, SMASR 0 0 1 0 0 0 0 0 0 1
LOC110673974 0 0 0 0 0 0 0 0 1 1
LOC111828495, SAFB2, TINCR 0 0 0 0 0 0 0 0 1 1
LOC112340392, SULT1A1, SULT1A2 0 0 0 0 0 0 0 0 1 1
LOC121132708, LOC129997289, NHSL1 0 0 0 0 0 0 0 0 1 1
LOC122056846, LOC126805716 0 0 0 0 0 0 0 0 1 1
LOC123575679 0 0 0 0 0 0 0 0 1 1
LOC124310574 0 0 0 0 0 0 0 0 1 1
LOC126805821, SARS1 0 0 0 1 0 0 0 0 0 1
LOC126859827, TAB2 0 1 0 0 0 0 0 0 0 1
LOC126860321, LOC129999959 0 0 0 0 0 0 0 0 1 1
LOC126861339, SDHD 1 0 0 0 0 0 0 0 0 1
LOC129389846 0 0 0 0 0 0 0 0 1 1
LOC129390335, LOC129390336, LOC129390337, LOC129390338, LOC129390339 0 0 0 0 0 0 0 0 1 1
LOC129390426, LOC132090103 0 0 0 0 0 0 0 0 1 1
LOC129992813, PKD2 1 0 0 0 0 0 0 0 0 1
LOC130006532, LOC130006533, LOC130006534, PCF11 0 0 0 0 0 0 0 0 1 1
LOC130056269, LOC130056270, NRDE2 0 0 0 0 0 0 0 0 1 1
LOC130057352, SMAD3 1 0 0 0 0 0 0 0 0 1
LOC132090103 0 0 0 0 0 0 0 0 1 1
LOC730100 0 0 0 0 0 0 0 0 1 1
LPL 0 0 0 0 0 0 0 1 0 1
LRP1B 0 0 0 0 0 0 0 0 1 1
LRRC38, PDPN 0 0 1 0 0 0 0 0 0 1
LSM1 0 0 1 0 0 0 0 0 0 1
MAP2K2 0 0 1 0 0 0 0 0 0 1
MEN1 1 0 0 0 0 0 0 0 0 1
MGAM 0 0 0 0 0 0 0 0 1 1
MIA3 0 0 0 0 1 0 0 0 0 1
MT-ATP8 1 0 0 0 0 0 0 0 0 1
MTUS1 0 0 0 0 0 0 0 0 1 1
MTX2 1 0 0 0 0 0 0 0 0 1
MYH11 0 0 1 0 0 0 0 0 0 1
MYH11, NDE1 0 0 1 0 0 0 0 0 0 1
MYH9 0 1 0 0 0 0 0 0 0 1
MYO1D 0 0 0 0 0 0 0 0 1 1
NIPA1 0 0 0 0 0 0 0 0 1 1
NLGN1 0 0 0 0 0 0 0 0 1 1
NRG3 0 0 0 0 0 0 0 0 1 1
NSD1 0 1 0 0 0 0 0 0 0 1
OR4C12 0 0 0 0 0 0 0 0 1 1
OR4D10, OR4D6, OR5A1 0 0 0 0 0 0 0 0 1 1
PDIA2 0 0 1 0 0 0 0 0 0 1
PHF6 0 0 1 0 0 0 0 0 0 1
PLAT 0 0 1 0 0 0 0 0 0 1
PMS2 1 0 0 0 0 0 0 0 0 1
PRKAG2 0 0 1 0 0 0 0 0 0 1
PSG1, PSG11, PSG6, PSG7 0 0 0 0 0 0 0 0 1 1
PSG1, PSG6, PSG7 0 0 0 0 0 0 0 0 1 1
PSG11, PSG4, PSG5 0 0 0 0 0 0 0 0 1 1
PTPRJ 0 0 1 0 0 0 0 0 0 1
PWRN3 0 0 0 0 0 0 0 0 1 1
RBFOX3 0 0 0 0 0 0 0 0 1 1
REV1 0 0 0 0 0 0 0 0 1 1
RYR1 0 0 1 0 0 0 0 0 0 1
SARS1 0 0 0 1 0 0 0 0 0 1
SCARB1 0 0 0 0 0 0 0 0 1 1
SCYGR1, TM4SF20 0 0 0 0 0 0 0 0 1 1
SFMBT1 0 0 0 0 0 0 0 0 1 1
SLC2A10 0 0 1 0 0 0 0 0 0 1
SMAD1 0 0 1 0 0 0 0 0 0 1
SOX11 0 0 0 0 0 0 0 0 1 1
SOX17 1 0 0 0 0 0 0 0 0 1
TGFB2 0 0 1 0 0 0 0 0 0 1
TGFBR1 0 0 0 0 1 0 0 0 0 1
THSD1 0 0 1 0 0 0 0 0 0 1
TOPBP1 0 0 0 0 1 0 0 0 0 1
TP53TG3, TP53TG3B, TP53TG3C, TP53TG3D 0 0 0 0 0 0 0 0 1 1
UMOD 0 0 0 0 0 1 0 0 0 1
VWDE 0 0 0 0 0 0 0 0 1 1
ZDHHC11 0 0 0 0 0 0 0 0 1 1
ZNF626 0 0 1 0 0 0 0 0 0 1
ZNF716 0 0 0 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 100
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign association protective risk factor not provided total
Invitae 161 33 866 684 131 0 0 0 0 1875
Genome-Nilou Lab 0 0 217 178 385 0 0 0 0 780
Fulgent Genetics, Fulgent Genetics 19 16 246 171 22 0 0 0 0 474
Illumina Laboratory Services, Illumina 0 0 241 55 93 0 0 0 0 389
Rare Disease Genomics Group, St George's University of London 370 0 18 0 0 0 0 0 0 388
Wendy Chung Laboratory, Columbia University Medical Center 6 21 14 0 0 0 0 0 144 185
NIHR Bioresource Rare Diseases, University of Cambridge 91 59 1 0 0 0 0 0 0 150
Institute of Molecular and Cell Biology, University of Tartu 0 0 0 0 0 0 0 0 83 83
OMIM 74 0 0 0 0 0 0 1 0 75
Centre for Mendelian Genomics, University Medical Centre Ljubljana 14 9 15 0 0 0 0 1 0 39
John Welsh Cardiovascular Diagnostic Laboratory, Baylor College of Medicine 9 1 10 5 9 0 0 0 0 34
Baylor Genetics 3 5 25 0 0 0 0 0 0 33
Centre for molecular medicine, Karolinska Institutet 0 0 0 0 0 0 0 0 28 28
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 2 22 2 0 0 0 0 0 27
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 20 4 0 0 0 0 0 0 0 24
Centre of Medical Genetics, University of Antwerp 3 1 15 0 0 0 0 0 0 19
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 4 7 4 0 0 0 0 16
Revvity Omics, Revvity 1 3 11 0 0 0 0 0 0 15
New York Genome Center 0 0 14 0 0 0 0 0 0 14
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 11 1 0 0 0 0 0 0 12
Center for Personalized Medicine, Children's Hospital Los Angeles 2 4 6 0 0 0 0 0 0 12
Blueprint Genetics 1 1 6 2 0 0 0 1 0 11
University of Washington Center for Mendelian Genomics, University of Washington 1 7 0 0 0 3 0 0 0 11
Yale Center for Mendelian Genomics, Yale University 0 11 0 0 0 0 0 0 0 11
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 6 5 0 0 0 0 11
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 10 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 6 1 0 0 0 0 0 9
Center for Genomic Medicine, Kyoto University Graduate School of Medicine 8 1 0 0 0 0 0 0 0 9
Johns Hopkins Genomics, Johns Hopkins University 0 2 6 1 0 0 0 0 0 9
Institute of Human Genetics, University of Leipzig Medical Center 0 1 7 0 0 0 0 0 0 8
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 7 7
Cohesion Phenomics 0 0 0 0 7 0 0 0 0 7
Rasad Genetic Department, Rasad Pathobiology and Genetic Laboratory 0 0 0 0 6 0 0 0 0 6
MGZ Medical Genetics Center 0 0 4 0 0 0 0 0 0 4
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 4 0 0 4
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 2 1 1 0 0 0 0 0 0 4
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 2 0 2 0 0 0 0 0 0 4
Mani Lab, Yale Cardiovascular Research Center, Yale University 4 0 0 0 0 0 0 0 0 4
3billion 2 2 0 0 0 0 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 0 0 0 1 0 0 0 0 4
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 0 3 0 0 0 0 0 0 4
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 3 0 0 0 0 0 0 3
Mendelics 2 0 0 0 1 0 0 0 0 3
Institute of Human Genetics, University of Wuerzburg 0 2 1 0 0 0 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 1 0 2 0 0 0 0 0 0 3
Genomic Medicine Lab, University of California San Francisco 1 1 1 0 0 0 0 0 0 3
Molecular Biology Laboratory, University of Basrah 2 1 0 0 0 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 0 0 0 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 1 0 0 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 2 0 0 0 0 0 0 0 2
CSER _CC_NCGL, University of Washington 0 0 2 0 0 0 0 0 0 2
Andelfinger Lab, Centre de Recherche, CHU Sainte Justine 2 0 0 0 0 0 0 0 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 2 0 0 0 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 2 0 0 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 2 0 0 0 0 0 0 2
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 2 0 0 0 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 0 2 0 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 1 0 0 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 0 0 0 1
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 1 0 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 0 0 0 1
Garg Lab, Nationwide Children's Hospital 0 0 0 0 0 1 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 1 0 0 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 0 0 0 1
College of Pharmacy, University of Babylon 0 0 0 0 0 1 0 0 0 1
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM 1 0 0 0 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 0 0 0 1
Shworak lab, George Washington University 0 0 0 0 0 0 0 1 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 1 0 0 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 0 0 0 1
Marseille Medical Genetics, U1251, Aix Marseille University, Inserm 1 0 0 0 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 0 0 0 1
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 0 0 1 0 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 0 0 1 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 0 0 0 1
Institute of Pediatric Research, Children's Hospital of Soochow University, Soochow University 1 0 0 0 0 0 0 0 0 1
GenomeConnect - CureCADASIL 0 0 0 0 0 0 0 0 1 1
PG23_Medical Genetics Lab, ASST Papa Giovanni XXIII 0 1 0 0 0 0 0 0 0 1
Genetics Institute, Tel Aviv Sourasky Medical Center 1 0 0 0 0 0 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 1 0 0 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 0 0 0 1
Medical Genetics Laboratory, CHRU Nancy 1 0 0 0 0 0 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 1 0 0 0 0 0 0 0 0 1
Suma Genomics 0 0 1 0 0 0 0 0 0 1
iDNA Genomics 0 0 0 0 1 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 0 0 0 0 1
Cardiology, Hunan Children’s Hospital 1 0 0 0 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 0 0 0 1
KardioGenetik, Herz- und Diabeteszentrum NRW 1 0 0 0 0 0 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 0 1 0 0 0 0 0 0 1
Genomics And Bioinformatics Analysis Resource, Columbia University 0 1 0 0 0 0 0 0 0 1

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