ClinVar Miner

Variants from ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories

Location: United States — Primary collection method: clinical testing
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 total
958 257 1703 907 2436 6260

Gene and significance breakdown #

Total genes and gene combinations: 700
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
BRCA2 53 1 34 50 100 238
PKD1 27 12 39 30 113 221
CFTR 42 8 52 17 16 135
NF1 56 6 13 7 48 130
FBN1 31 13 21 17 32 114
BRCA1 22 1 9 26 47 105
ACADM 31 10 27 0 16 83
DMD 31 1 11 6 34 83
TTN 1 2 47 11 10 71
HBB, LOC106099062, LOC107133510 32 2 15 17 3 69
HSPG2 0 0 23 15 31 69
ACVRL1 31 5 8 3 18 65
APC 15 1 9 8 31 64
F8 33 11 7 1 12 64
ACADVL 16 11 26 5 5 63
ATP7B 11 3 16 7 22 59
MEFV 11 0 12 17 19 59
DYNC2H1 1 3 28 8 10 50
PTPN11 29 0 3 2 15 49
ENG 19 1 7 6 15 48
FBN2 0 0 15 6 27 48
VWF 6 4 4 1 33 48
SPTA1 2 0 17 1 27 47
USH2A 0 0 14 4 29 47
COL5A1 0 1 12 8 25 46
FLNA 0 0 9 10 27 46
MYLK 0 0 14 9 21 44
GJB2 21 4 3 3 9 40
CTRC 3 3 12 8 13 39
RET 20 2 5 3 7 37
SYNE1 0 1 22 8 6 37
ATM 3 0 6 9 17 35
COL3A1 3 1 9 6 16 35
SPTB 0 0 11 0 24 35
PIEZO1 1 0 9 0 24 34
MSH6 8 1 4 7 13 33
PMS2 7 0 4 3 18 32
SOS1 8 0 6 4 14 32
COL5A2 0 0 9 6 15 30
GALT 10 6 6 1 7 30
HBB, LOC107133510, LOC110006319 8 1 4 9 8 30
MEN1 12 4 2 5 7 30
PKD2 9 1 7 3 10 30
MSH2 6 0 10 1 12 29
MYO15A 0 2 20 2 5 29
ADGRV1 0 0 15 7 6 28
COL1A1 6 9 3 2 8 28
PRSS1, TRB 4 2 3 14 5 28
WFS1 0 0 9 3 16 28
NLRP3 3 0 6 5 13 27
AKAP9 0 0 14 5 7 26
LOC105371049, PKD1 7 1 3 6 9 26
PSTPIP1 0 0 8 5 13 26
CUBN 1 0 12 0 12 25
FLNB 0 1 11 7 6 25
MYH11, NDE1 0 0 6 5 14 25
ANK1 1 1 5 0 17 24
EVC2 2 0 6 7 9 24
LOC100289580, PIEZO1 0 0 9 0 15 24
SPINK1 4 0 6 7 7 24
G6PD 14 3 1 2 3 23
INSR 0 0 3 1 19 23
MYH11 0 0 4 6 13 23
PLCG2 0 0 5 6 12 23
PTEN 7 2 3 1 10 23
COL2A1 2 7 4 3 6 22
LPIN2 0 0 11 6 5 22
SLX4 0 0 2 0 20 22
CFTR, LOC111674472 10 1 5 2 3 21
HBA2, LOC106804612 7 2 1 7 4 21
PLOD1 0 0 6 4 11 21
CDH23 0 2 13 1 4 20
ENG, LOC102723566 10 0 2 1 7 20
SLC22A5 7 2 2 1 8 20
SLC26A4 6 1 7 3 3 20
CHD7 5 0 0 1 13 19
LRBA 1 2 8 5 3 19
MECP2 11 0 1 0 7 19
MVK 2 0 4 4 9 19
MYH14 0 0 12 2 5 19
TP53 4 3 2 1 9 19
TSC2 3 0 1 4 11 19
ABCA4 0 3 2 1 12 18
DSG2 0 1 8 3 6 18
FANCA 1 0 3 0 14 18
PLOD3 0 0 4 5 9 18
TRIP11 0 0 8 3 7 18
TRPV4 0 1 3 6 8 18
ANK2 0 0 5 3 9 17
CBS 1 1 5 3 7 17
COL1A2 5 2 4 3 3 17
DHCR7 1 1 2 1 12 17
MLH1 3 1 5 1 7 17
CDH1 0 0 2 4 10 16
COL4A5 0 6 0 0 10 16
DSP 1 0 8 3 4 16
PALB2 3 0 2 2 9 16
PCDH15 0 0 12 2 2 16
SKI 0 0 3 6 7 16
BRIP1 2 0 4 5 4 15
EIF2AK4 0 0 2 2 11 15
EVC 1 0 4 4 6 15
FANCD2, LOC107303338 0 0 1 0 14 15
IGHMBP2 1 0 7 3 4 15
RYR2 0 0 11 1 3 15
SBF1 0 0 9 3 3 15
ABCD1 5 0 4 1 4 14
ELP1 0 0 9 2 3 14
FGFR3 7 0 0 1 6 14
HBA1, LOC106804613 2 2 2 3 5 14
MUTYH 4 0 0 4 6 14
SCN1A, SCN9A 1 0 5 1 7 14
SETX 0 0 5 0 9 14
SLC2A10 0 1 4 3 6 14
TNFRSF13B 3 2 1 2 6 14
TTC21B 0 0 4 2 8 14
WDR19 0 0 6 5 3 14
CCNH, RASA1 7 0 2 1 3 13
FLCN 7 0 2 3 1 13
NEK1 1 0 4 2 6 13
POR 0 0 3 7 3 13
PTPRC 0 0 8 4 1 13
SDHB 3 1 3 2 4 13
SLCO1B1 1 0 2 0 10 13
TTR 3 3 1 1 5 13
BMPR2 7 0 2 0 3 12
BTD 5 2 2 0 3 12
COL5A1, LOC101448202 2 0 1 3 6 12
GLI2 0 0 3 1 8 12
LMNA 3 1 1 1 6 12
MYBPC3 3 1 2 2 4 12
MYH7 2 1 3 2 4 12
SDHA 1 0 0 1 10 12
TEK 1 0 1 4 6 12
ATM, C11orf65 2 1 1 3 4 11
CTC1 0 0 1 0 10 11
DISP1 0 0 4 0 7 11
LIFR 0 0 3 4 4 11
MYO7A 0 1 6 1 3 11
OTOF 0 0 7 3 1 11
P3H1 0 0 3 3 5 11
SLCO1B3 0 0 3 0 8 11
TECTA 0 1 8 0 2 11
COL11A2 0 0 6 2 2 10
DNMT1 0 0 5 2 3 10
F9 2 4 2 0 2 10
GNPAT 0 1 2 3 4 10
HK1 0 0 3 0 7 10
IGLL1 0 1 0 3 6 10
INF2 0 0 6 1 3 10
KCNQ1 3 1 1 2 3 10
LBR 0 0 3 5 2 10
MYO3A 0 3 6 0 1 10
NBN 1 0 3 2 4 10
PLEKHG5 0 0 5 1 4 10
POLG 1 3 3 1 2 10
PRKG1 0 0 2 2 6 10
SLC26A2 1 0 4 1 4 10
SMAD4 0 0 2 5 3 10
TNFRSF1A 0 0 4 1 5 10
UGT1A, UGT1A10, UGT1A7, UGT1A8, UGT1A9 0 0 3 0 7 10
WDR35 0 3 1 2 4 10
ATP7A 2 0 1 2 4 9
BMPR1A 0 0 2 2 5 9
ELANE 1 1 2 3 2 9
EYS 0 1 1 1 6 9
KCNH2 1 2 2 2 2 9
KMT2D 2 0 0 1 6 9
MYH6 0 0 3 3 3 9
OTC 2 1 4 0 2 9
SDHD 3 0 0 0 6 9
SLC4A1 1 0 2 0 6 9
TCN2 0 2 2 3 2 9
TGFBR2 0 0 2 2 5 9
ARHGEF10 0 0 3 1 4 8
BARD1 0 0 0 2 6 8
CACNA1C 0 0 2 2 4 8
CFTR, LOC111674477 1 0 2 2 3 8
CNGB1 0 0 1 3 4 8
CR2 1 0 0 4 3 8
DYNC1H1 0 0 4 4 0 8
EFEMP2 0 0 2 2 4 8
EPB42 0 0 4 0 4 8
FANCM 0 0 0 0 8 8
HEXA 0 0 3 0 5 8
KIF1A 0 0 5 2 1 8
KRIT1 4 0 1 0 3 8
MRE11 0 0 6 2 0 8
OBSCN 0 0 1 4 3 8
RBM20 0 0 4 2 2 8
SMAD3 2 0 0 2 4 8
STK11 1 0 1 2 4 8
TRPM4 0 0 5 1 2 8
VAV1 0 0 1 2 5 8
ABCC9 0 0 5 0 2 7
ALPL 1 0 1 1 4 7
ASS1 0 4 1 0 2 7
CD19 0 1 3 1 2 7
CD40LG 1 0 3 3 0 7
CEP290 3 1 1 1 1 7
CPT1A 0 0 2 2 3 7
DLL3 0 0 0 3 4 7
FGFR1 0 0 2 2 3 7
FKRP 1 0 1 2 3 7
MTHFR 0 0 4 0 3 7
MTRR 1 0 3 0 3 7
PFKM 0 0 1 0 6 7
PIK3CD 1 0 0 2 4 7
SCN5A 0 0 3 3 1 7
SH3TC2 0 0 6 0 1 7
SOX9 1 0 2 2 2 7
TERT 0 0 3 0 4 7
TGFBR1 0 0 2 1 4 7
USH1C 0 0 5 1 1 7
WHRN 0 1 6 0 0 7
WNK1 0 0 3 1 3 7
ADA 1 0 2 0 3 6
ALK 0 0 1 0 5 6
CCM2 1 0 0 2 3 6
CFTR, LOC111674475 4 0 1 1 0 6
CHEK2 1 0 4 0 1 6
COCH, LOC100506071 0 0 3 2 1 6
COMP 0 1 3 2 0 6
DHTKD1 0 0 5 1 0 6
FANCI 0 0 0 0 6 6
FKBP10 0 0 4 0 2 6
LAMA4 0 0 4 0 2 6
LRPPRC 0 0 2 1 3 6
MARS1 0 0 4 0 2 6
MMACHC 4 0 0 0 2 6
MMUT 1 2 2 0 1 6
MYO6 0 1 3 1 1 6
NFKBIA 0 0 1 2 3 6
NRL, PCK2 0 0 4 0 2 6
PCARE 0 0 2 3 1 6
PFKL 0 0 2 0 4 6
PIK3R1 1 0 1 1 3 6
PKLR 3 0 2 0 1 6
PKP2 0 1 3 1 1 6
PRX 0 0 4 1 1 6
RASA1 1 0 0 2 3 6
SBDS 1 0 0 0 5 6
SERPINH1 0 0 3 0 3 6
SLC25A22 0 1 1 3 1 6
SNTA1 0 0 5 0 1 6
STRC 0 3 3 0 0 6
TSC1 0 0 1 2 3 6
UGT1A, UGT1A10, UGT1A6, UGT1A7, UGT1A8, UGT1A9 0 0 1 0 5 6
VCL 0 0 3 0 3 6
AIPL1 0 0 0 0 5 5
ALS2 0 0 1 1 3 5
ATPAF2 0 0 2 1 2 5
BAG3 0 0 0 0 5 5
BEST1 0 0 0 0 5 5
BICD2 0 0 3 2 0 5
DCTN1 0 0 1 0 4 5
FGD4 0 0 2 3 0 5
FIG4 1 0 3 0 1 5
GAA 1 0 3 0 1 5
GFM1 0 0 1 1 3 5
GJB3 0 0 2 2 1 5
GLI3 0 0 0 1 4 5
GSR 0 0 2 0 3 5
HSPG2, LDLRAD2 0 0 1 0 4 5
IFT80, TRIM59-IFT80 0 2 2 1 0 5
JUP 0 0 3 0 2 5
KIF5A 1 1 2 0 1 5
LARS2 0 0 0 1 4 5
LINC00630, RAB40AL 0 0 0 2 3 5
LOC107303340, VHL 3 1 1 0 0 5
LRRC8A 0 0 1 1 3 5
MERTK 0 0 0 1 4 5
MET 0 0 0 2 3 5
MFN2 1 0 2 0 2 5
PINK1 0 0 3 1 1 5
RARS2 0 1 2 0 2 5
RP1 0 0 2 1 2 5
SUCLG1 0 0 4 0 1 5
TGFB2 1 0 1 0 3 5
TGIF1 0 0 3 0 2 5
AARS1 0 0 1 1 2 4
ACSF3 0 0 0 1 3 4
ACTN2 0 0 2 0 2 4
AMN 0 0 1 2 1 4
BRAF 2 0 0 0 2 4
BSCL2, HNRNPUL2-BSCL2 1 0 2 1 0 4
CBLIF 2 0 1 1 0 4
CORIN 0 0 4 0 0 4
CRB1 2 0 1 0 1 4
CRTAP 0 0 4 0 0 4
EBP 0 0 0 3 1 4
EDARADD 0 0 0 0 4 4
EPB41 1 0 2 0 1 4
FXN 1 0 1 0 2 4
GAN 1 0 2 0 1 4
GLMN 2 1 0 0 1 4
GSS 0 0 4 0 0 4
HRAS, LRRC56 1 0 1 0 2 4
MAP2K2 0 0 1 0 3 4
MT-ATP6 1 0 3 0 0 4
MT-CO3 0 0 4 0 0 4
MTMR2 0 0 2 1 1 4
MTR 0 0 2 1 1 4
MYO1A 0 0 0 0 4 4
MYPN 0 0 4 0 0 4
NEFL 0 0 0 1 3 4
NFKB2 2 0 0 2 0 4
NR2E3 1 1 0 0 2 4
NTRK1 0 0 1 0 3 4
OPA1 1 0 2 0 1 4
PC 0 0 2 2 0 4
PCCB 1 0 3 0 0 4
PDE6A 0 0 2 1 1 4
PRKDC 0 0 1 1 2 4
PTCH1 0 0 0 1 3 4
RAD51D, RAD51L3-RFFL 0 0 1 0 3 4
RAF1 0 1 1 0 2 4
SDHC 1 0 1 0 2 4
SLC5A7 0 0 1 1 2 4
SUFU 0 0 3 1 0 4
TCN1 0 0 1 1 2 4
TFG 0 0 2 0 2 4
TMPO 0 0 0 1 3 4
TMPRSS3 0 0 3 0 1 4
TNFRSF13C 0 0 1 3 0 4
TRMU 0 0 1 0 3 4
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 1 0 1 0 2 4
ACTG1 0 0 1 1 1 3
AK1 0 0 0 0 3 3
APTX 0 0 1 1 1 3
ARSE 0 0 0 0 3 3
BAP1 0 0 1 0 2 3
BCKDHA 0 0 0 0 3 3
BTK 1 0 0 2 0 3
CA4 0 0 2 1 0 3
CAV1 0 0 1 0 2 3
CAV3 0 0 0 1 2 3
CD40 1 0 0 1 1 3
CDHR1 0 0 0 0 3 3
CFTR, LOC111674463 0 0 0 1 2 3
COQ8A 0 0 2 0 1 3
COQ9 0 0 0 1 2 3
CRX 0 0 0 1 2 3
DBT 0 0 0 1 2 3
DES 0 0 2 0 1 3
DLD 0 0 1 0 2 3
DNM2 0 0 1 1 1 3
EDA 1 1 0 0 1 3
EGR2 0 1 2 0 0 3
ESRRB 0 0 1 0 2 3
FGFR2 0 0 0 1 2 3
GCLC 0 0 1 0 2 3
GDF2 0 0 1 1 1 3
GJB1 1 1 1 0 0 3
GLA, RPL36A-HNRNPH2 0 0 1 1 1 3
GPSM2 1 0 2 0 0 3
GUCY2D 0 0 2 0 1 3
HARS1 0 0 2 0 1 3
HBB, LOC106099062, LOC107133510, LOC110006319 1 0 1 1 0 3
HCFC1 0 0 1 2 0 3
HMGCS2 0 0 2 1 0 3
HSD17B4 0 0 2 1 0 3
HSPB1 0 1 2 0 0 3
ICOS 0 0 0 1 2 3
KAT6B 0 0 2 1 0 3
KRAS 2 0 0 0 1 3
LOC108021846, SOX9 1 1 0 0 1 3
LOC114827851, MYH6 0 0 0 0 3 3
MED25 0 0 2 0 1 3
MMAB 0 0 3 0 0 3
MT-CO2 0 0 3 0 0 3
MT-ND1 2 0 1 0 0 3
MT-ND4 1 0 2 0 0 3
MT-ND5 0 0 3 0 0 3
MYH10 0 0 2 1 0 3
NPC1 0 0 1 1 1 3
OXCT1 0 0 0 0 3 3
PTCHD1 0 0 1 0 2 3
PUS1 0 0 1 2 0 3
RAG2 0 0 2 0 1 3
RETREG1 0 0 2 0 1 3
RIT1 1 0 1 0 1 3
SCN9A 0 0 3 0 0 3
SCO2, TYMP 0 0 0 0 3 3
SGCA 0 0 2 0 1 3
SHOC2 1 0 1 1 0 3
SLC12A6 0 0 2 0 1 3
SLC25A19 0 0 2 0 1 3
SLC26A5 0 0 2 0 1 3
SLC3A1 0 0 3 0 0 3
SLC6A8 0 0 1 0 2 3
SPRED1 0 0 0 0 3 3
SPTLC2 0 0 2 0 1 3
SUCLA2 0 0 0 1 2 3
SUOX 0 1 1 1 0 3
TDP1 0 0 2 0 1 3
TMEM43 0 0 1 1 1 3
TP53, WRAP53 0 0 0 0 3 3
TRIM2 0 0 3 0 0 3
TRIOBP 0 0 2 1 0 3
TULP1 0 0 0 0 3 3
USH1G 0 0 2 1 0 3
WRAP53 0 0 1 0 2 3
ACAD9 1 0 0 0 1 2
ACADS 0 1 0 0 1 2
AGL 0 0 2 0 0 2
AICDA 1 0 0 0 1 2
ATRX 0 0 2 0 0 2
BLNK 0 0 0 1 1 2
BLNK, ZNF518A 0 0 2 0 0 2
C10orf105, CDH23 0 0 2 0 0 2
CACNA1A 2 0 0 0 0 2
CACNB2, NSUN6 0 0 1 0 1 2
CASQ2 0 0 2 0 0 2
CAV3, SSUH2 0 0 1 0 1 2
CBL 0 1 0 0 1 2
CCDC50 0 0 1 1 0 2
CCT5 0 0 1 0 1 2
CD79A 0 0 2 0 0 2
CDAN1 0 0 2 0 0 2
CDKN2A 0 1 1 0 0 2
CLN6 0 0 0 0 2 2
CLRN1 1 0 1 0 0 2
COQ2, LOC112997540 0 0 0 0 2 2
COX15 0 0 0 0 2 2
CPT2 0 0 1 1 0 2
CTNS 0 0 2 0 0 2
CYB5R3 0 0 0 0 2 2
DCLRE1C 0 0 0 0 2 2
DGUOK 0 0 1 0 1 2
DLAT 0 0 1 0 1 2
DNAJB2 0 0 0 1 1 2
DSC2 0 0 1 1 0 2
DTNA 0 0 0 0 2 2
DUPD1, KAT6B 0 0 2 0 0 2
EDAR, RANBP2 0 0 1 0 1 2
EMD 0 0 1 1 0 2
ETFB 0 0 2 0 0 2
EVC, EVC2 0 0 1 0 1 2
EYA4, TARID 0 0 1 0 1 2
FANCA, ZNF276 0 0 0 0 2 2
FANCB 0 0 0 0 2 2
FANCE 0 0 0 0 2 2
FANCG, VCP 0 0 0 0 2 2
FANCI, POLG 0 0 0 0 2 2
FANCL, VRK2 0 0 0 0 2 2
FBLN5 0 1 1 0 0 2
FBN1, LOC113939944 0 0 1 0 1 2
FH 0 0 0 2 0 2
FKTN 1 0 0 0 1 2
FOXH1 0 0 0 0 2 2
FOXN1 0 0 1 0 1 2
GPI 0 0 0 0 2 2
HOXD10 0 0 1 0 1 2
IDUA 0 0 0 1 1 2
IGH, IGHM 0 0 0 0 2 2
IKBKG 0 0 2 0 0 2
ILK, TAF10 0 0 1 1 0 2
JPH2 0 0 1 0 1 2
KARS1 0 0 2 0 0 2
KCNE3 0 0 0 1 1 2
KCNJ2 0 0 2 0 0 2
KCNK3 0 0 1 0 1 2
KIAA0753 2 0 0 0 0 2
KIF1B 0 0 0 0 2 2
LITAF 0 0 1 0 1 2
LOC101927055, TTN 0 0 2 0 0 2
LOC101928008, SBF2 0 0 1 0 1 2
LOC111811965, NF1 0 0 1 1 0 2
LRSAM1 0 0 0 0 2 2
MILR1, POLG2 0 0 0 0 2 2
MMAA 0 0 0 1 1 2
MT-CYB 0 0 2 0 0 2
MT-ND2 0 1 1 0 0 2
MT-ND3 2 0 0 0 0 2
MT-ND6 1 0 1 0 0 2
MT-TI 0 0 2 0 0 2
MT-TL1 2 0 0 0 0 2
MYOT 0 0 0 2 0 2
NDUFAF4 0 0 0 0 2 2
NDUFAF5 0 0 1 1 0 2
NDUFS1 0 0 0 1 1 2
NDUFV2 0 0 1 0 1 2
NEXN 0 0 1 0 1 2
NGF 0 0 0 1 1 2
NHS 0 0 0 1 1 2
NLGN4X 0 0 0 0 2 2
NODAL 0 0 0 0 2 2
NT5C3A 0 0 1 0 1 2
OTOA 0 0 1 0 1 2
PCDH19 0 0 0 0 2 2
PDK3 0 0 2 0 0 2
PEX7 0 0 0 0 2 2
PHOX2B 0 0 1 0 1 2
PMP22 1 0 1 0 0 2
PRKCD 0 0 2 0 0 2
RB1 1 0 0 0 1 2
RHO 1 0 0 1 0 2
RP9 0 0 0 0 2 2
RPGRIP1 0 0 0 0 2 2
RPS15 0 0 0 0 2 2
RUNX2 0 0 1 0 1 2
RYR1 0 1 1 0 0 2
SBF2 0 0 1 1 0 2
SCN3B 0 0 1 1 0 2
SLC25A13 0 0 0 0 2 2
SLC35D1 0 0 1 1 0 2
SMPD1 0 0 1 0 1 2
SNRNP200 0 0 1 1 0 2
TCAP 0 0 0 1 1 2
TERC 0 0 0 0 2 2
TINF2 0 0 0 0 2 2
TMC1 1 0 1 0 0 2
TMIE 0 0 1 0 1 2
TOPORS 0 0 1 0 1 2
TPM1 0 0 2 0 0 2
TPRN 0 0 1 0 1 2
VHL 0 0 0 0 2 2
YARS1 0 0 2 0 0 2
ABCB7 0 0 0 0 1 1
ABCD4 0 0 1 0 0 1
ACAD9, KIAA1257 0 0 1 0 0 1
ACADL 0 0 0 0 1 1
ACADVL, DLG4 0 0 0 0 1 1
ACAT1 0 0 1 0 0 1
ACTA2 0 0 1 0 0 1
ADA, LOC107303343 0 0 0 0 1 1
ALDOA, LOC112694756 0 0 1 0 0 1
ALG11, ATP7B 0 0 0 0 1 1
AMER1 1 0 0 0 0 1
AOPEP, FANCC 0 0 0 0 1 1
ASH1L 1 0 0 0 0 1
ATL1 0 0 1 0 0 1
BCKDHB 0 0 0 1 0 1
BCS1L 0 0 0 0 1 1
BEST1, FTH1 0 0 0 0 1 1
BTD, HACL1 0 0 0 0 1 1
CACNA1S 0 0 0 1 0 1
CASK 0 0 1 0 0 1
CD320 0 0 1 0 0 1
CD81 0 0 0 1 0 1
CDH23, PSAP 0 0 0 0 1 1
CDKN1B 0 0 0 0 1 1
CDKN1B, GPR19 0 0 0 0 1 1
CEACAM16 0 0 1 0 0 1
CFTR, LOC113633877 1 0 0 0 0 1
CHRNG 1 0 0 0 0 1
COQ2 0 0 1 0 0 1
COX10 0 0 1 0 0 1
COX4I2 0 0 0 0 1 1
CRYM 0 0 0 1 0 1
CSRP3 0 0 0 0 1 1
CTF1 0 0 1 0 0 1
CYBB 1 0 0 0 0 1
CYCS 0 0 0 0 1 1
CYGB, PRCD 0 0 0 1 0 1
DARS2 0 0 0 0 1 1
DIAPH1 0 0 1 0 0 1
DIPK1A, RPL5 0 0 0 0 1 1
DKC1 0 0 0 0 1 1
DNM1L, YARS2 0 0 1 0 0 1
DSPP 0 0 0 0 1 1
EFEMP2, MUS81 0 0 0 0 1 1
EPHB4 1 0 0 0 0 1
ESPN 0 0 1 0 0 1
FANCA, LOC112486223 0 0 0 0 1 1
FANCD2, FANCD2OS 0 0 0 0 1 1
FANCL 0 0 0 0 1 1
FASTKD2 0 0 0 1 0 1
FLNA, LOC107988032 0 0 1 0 0 1
FSCN2 0 0 0 1 0 1
G6PC 1 0 0 0 0 1
GALC 1 0 0 0 0 1
GALNS 0 0 0 0 1 1
GAMT 0 1 0 0 0 1
GAMT, NDUFS7 0 0 0 0 1 1
GAREM2, HADHA 0 0 1 0 0 1
GBE1 0 0 0 0 1 1
GDAP1 1 0 0 0 0 1
GLB1 0 0 0 0 1 1
GNPTAB 0 0 0 0 1 1
GP6 0 0 1 0 0 1
GPD1L 0 0 1 0 0 1
GUSB 1 0 0 0 0 1
HADH 0 0 0 0 1 1
HADHA 0 0 1 0 0 1
HARS2 0 0 1 0 0 1
HGSNAT 0 0 0 1 0 1
HSPB3 0 0 0 0 1 1
HSPB8 0 0 1 0 0 1
HTR2B, PSMD1 0 0 1 0 0 1
IDH3B 0 0 0 1 0 1
IMPDH1 0 0 1 0 0 1
ISCU 0 0 1 0 0 1
JAK3 0 0 0 1 0 1
KCNE1 0 0 0 0 1 1
KCNE2 0 0 1 0 0 1
KCNQ2 0 1 0 0 0 1
KCNQ4 0 0 0 1 0 1
KLHL3 0 0 1 0 0 1
KLLN, PTEN 0 0 0 1 0 1
LAMP2 0 0 0 0 1 1
LDB3 0 0 1 0 0 1
LDB3, LOC110121486 0 0 1 0 0 1
LIG4 0 0 0 0 1 1
LMBRD1 0 0 1 0 0 1
LOC100507346, PTCH1 0 0 1 0 0 1
LOC101929524, RETREG1 0 0 1 0 0 1
LOC102723833, USH2A 0 0 1 0 0 1
LOC108903148, OPTN 0 0 0 0 1 1
LOC109611589, RUNX2 0 0 0 0 1 1
LOC110121269, SCN5A 0 0 1 0 0 1
LOC110806306, TERC 0 0 0 0 1 1
LOC114827850, MYL2 0 0 1 0 0 1
LRRC2, TDGF1 0 0 0 1 0 1
MAN2B1 0 0 1 0 0 1
MASP1 0 0 1 0 0 1
MAT1A 0 0 1 0 0 1
MCCC2 0 0 1 0 0 1
MCEE 0 0 0 1 0 1
MHRT, MYH7 0 0 0 0 1 1
MID1 0 0 0 0 1 1
MMAB, MVK 0 0 0 0 1 1
MMADHC 0 0 1 0 0 1
MPV17 0 0 0 0 1 1
MPZ 0 0 0 0 1 1
MRPS22 0 0 0 1 0 1
MS4A1 0 0 0 0 1 1
MT-ATP6, MT-ATP8 0 0 1 0 0 1
MT-CO1 0 0 1 0 0 1
MT-ND4L 0 0 1 0 0 1
MT-RNR1 0 0 1 0 0 1
MT-TC 0 0 1 0 0 1
MT-TE 0 0 1 0 0 1
MT-TH 0 0 1 0 0 1
MT-TK 1 0 0 0 0 1
MT-TS2 0 0 1 0 0 1
MT-TV 0 0 1 0 0 1
MYH9 0 0 0 0 1 1
MYL3 0 0 1 0 0 1
MYLK2 0 0 1 0 0 1
NCAPH2, SCO2 0 0 1 0 0 1
NDRG1 0 0 1 0 0 1
NDUFA1 0 0 0 0 1 1
NDUFA11 0 0 0 0 1 1
NDUFAF1 0 0 0 0 1 1
NDUFAF2 0 0 0 1 0 1
NDUFS2 0 0 0 0 1 1
NDUFS3 0 0 0 1 0 1
NDUFS4 0 0 1 0 0 1
OCRL 0 0 0 1 0 1
PCCA 0 1 0 0 0 1
PDCD10 0 0 0 0 1 1
PDSS1 0 0 1 0 0 1
PJVK 0 0 1 0 0 1
POU4F3 0 0 0 1 0 1
PPIB 0 0 1 0 0 1
PROM1 0 0 0 0 1 1
PRPS1 0 0 0 0 1 1
PYGL 0 0 0 1 0 1
RAG1 0 0 0 0 1 1
RMRP 0 0 1 0 0 1
RPGR 0 0 1 0 0 1
RPS19 0 0 0 0 1 1
RPS24 0 0 0 0 1 1
RPS6KA3 0 1 0 0 0 1
RPS7 0 0 1 0 0 1
RRM2B 0 0 1 0 0 1
RUNX1 1 0 0 0 0 1
SCN1B 0 0 1 0 0 1
SCO1 0 0 0 0 1 1
SDHAF1 0 0 0 1 0 1
SHH 0 0 0 0 1 1
SIX3 1 0 0 0 0 1
SLC17A5 1 0 0 0 0 1
SLC25A15 0 0 0 0 1 1
SLC25A20 0 0 1 0 0 1
SLC25A3 0 0 1 0 0 1
SLC25A4 0 0 0 1 0 1
SMARCB1 0 0 0 0 1 1
SMC1A 0 0 0 0 1 1
SNHG14, UBE3A 0 0 1 0 0 1
SOD1 0 0 0 0 1 1
SPG7 0 0 0 0 1 1
SPTLC1 0 0 0 0 1 1
SURF1 0 0 1 0 0 1
TAZ 1 0 0 0 0 1
TBC1D24 1 0 0 0 0 1
TCIRG1 1 0 0 0 0 1
TGFB3 0 0 1 0 0 1
TMEM127 0 0 1 0 0 1
TMEM70 0 0 0 1 0 1
TNNT2 0 0 1 0 0 1
TPI1 0 0 1 0 0 1
TSPAN7 0 0 0 0 1 1
UBE2A 0 0 0 1 0 1
UNG 0 0 1 0 0 1
UQCRQ 0 0 0 0 1 1
WASHC4 0 0 1 0 0 1
ZIC2 0 0 0 0 1 1

Condition and significance breakdown #

Total conditions: 10
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 561 170 1127 591 1406 3855
not specified 343 79 543 310 993 2268
Medium-chain acyl-coenzyme A dehydrogenase deficiency 31 7 25 0 14 77
Noonan syndrome 24 0 7 6 25 62
Hereditary pancreatitis 4 0 2 0 0 6
Common variable immunodeficiency 1 1 0 0 0 0 1
Hydrocephalus, congenital, 2, with or without brain or eye anomalies 0 1 0 0 0 1
MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 1 0 0 0 0 1
Myoclonic epilepsy, familial infantile 1 0 0 0 0 1
Pancreatitis 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.