ClinVar Miner

Variants from Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

Location: Germany  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
387 382 376 4 2 1149

Gene and significance breakdown #

Total genes and gene combinations: 381
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PKD1 37 28 42 0 0 107
COL4A5 35 32 16 1 0 84
COL4A4 20 28 33 0 0 81
COL4A3, MFF-DT 19 24 22 1 0 64
CUBN 3 9 11 0 0 23
INF2 8 0 8 0 0 16
PKD2 11 3 1 0 0 15
CFH 7 2 5 0 0 14
ABCA4 6 7 0 0 0 13
TRPC6 1 1 10 0 0 12
USH2A 7 4 1 0 0 12
SLC5A2 1 3 7 0 0 11
CFI 0 3 7 0 0 10
MYH9 1 0 9 0 0 10
NF1 3 7 0 0 0 10
SLC34A3 1 3 6 0 0 10
PKHD1 2 6 1 0 0 9
C3 2 3 2 1 0 8
CD46 6 1 1 0 0 8
SLC12A3 2 5 1 0 0 8
BEST1 3 3 1 0 0 7
BRCA1 6 1 0 0 0 7
COL1A1 3 3 1 0 0 7
DGKE 4 3 0 0 0 7
NPHS2 5 2 0 0 0 7
ACTN4 0 3 3 0 0 6
ADGRV1 2 1 3 0 0 6
CASR 2 2 2 0 0 6
CFB 1 0 5 0 0 6
CRB2 0 1 5 0 0 6
LAMB2 2 2 0 0 2 6
LMX1B 4 1 1 0 0 6
SMARCAL1 3 2 1 0 0 6
TSC2 2 2 2 0 0 6
WT1 2 1 3 0 0 6
ALPL 4 1 0 0 0 5
CD2AP 1 1 3 0 0 5
KCNQ1 3 1 1 0 0 5
NUP93 1 1 3 0 0 5
PAX2 0 1 4 0 0 5
PHEX 2 2 1 0 0 5
ANLN 0 0 4 0 0 4
COL2A1 1 2 1 0 0 4
EYS 2 1 1 0 0 4
EYS, PHF3 2 1 1 0 0 4
GLA, RPL36A-HNRNPH2 1 1 2 0 0 4
HNF1B 3 0 1 0 0 4
MYBPC3 2 2 0 0 0 4
MYO7A 1 3 0 0 0 4
NPHP4 2 2 0 0 0 4
NPHS1 2 2 0 0 0 4
PRPF31 1 2 1 0 0 4
PRPH2 1 3 0 0 0 4
RB1 1 3 0 0 0 4
SALL1 0 3 1 0 0 4
SHOX 0 0 3 1 0 4
SLC34A1 1 2 1 0 0 4
AGL 1 2 0 0 0 3
AXDND1, NPHS2 3 0 0 0 0 3
BRCA2 2 1 0 0 0 3
CHM 1 1 1 0 0 3
CLCN5 0 1 2 0 0 3
EYA1 1 1 1 0 0 3
FGFR3 3 0 0 0 0 3
GAA 2 0 1 0 0 3
GCK 0 1 2 0 0 3
HOGA1 1 1 1 0 0 3
IMPG2 2 1 0 0 0 3
KMT2D 2 0 1 0 0 3
MYO15A 2 0 1 0 0 3
NOTCH2 0 1 2 0 0 3
PBX1 0 3 0 0 0 3
PDE6C 2 1 0 0 0 3
SLC2A9 1 1 1 0 0 3
SLCO2A1 1 2 0 0 0 3
TTN 0 0 3 0 0 3
ADAMTS13 0 2 0 0 0 2
AFG2A 0 1 1 0 0 2
ALDOB 2 0 0 0 0 2
ALMS1 1 1 0 0 0 2
APC 2 0 0 0 0 2
BCKDHB 0 2 0 0 0 2
BICC1 0 0 2 0 0 2
BRCA1, LOC126862571 2 0 0 0 0 2
C12orf43, HNF1A 1 1 0 0 0 2
C7 2 0 0 0 0 2
CAPN3 1 0 1 0 0 2
CDH23 2 0 0 0 0 2
CEP164 2 0 0 0 0 2
CEP290 1 1 0 0 0 2
CERKL 1 1 0 0 0 2
CHD1 0 0 2 0 0 2
CLCNKB, LOC106501713 1 0 1 0 0 2
CLRN1 0 1 1 0 0 2
CNGA3 0 2 0 0 0 2
CNNM4 1 1 0 0 0 2
COMP 0 0 2 0 0 2
COQ2 0 1 1 0 0 2
CR2 0 1 1 0 0 2
CREBBP 0 1 1 0 0 2
CRX 0 2 0 0 0 2
CYP11B1, LOC106799833 0 0 2 0 0 2
DDX11 0 2 0 0 0 2
EVC 1 1 0 0 0 2
FBN2 0 0 2 0 0 2
FGFR2 2 0 0 0 0 2
FOXL2 1 1 0 0 0 2
FREM2 2 0 0 0 0 2
GCDH 1 1 0 0 0 2
GGCX 0 2 0 0 0 2
GUCY2D 0 2 0 0 0 2
HPGD 1 1 0 0 0 2
JAG1 1 0 1 0 0 2
KIF11 1 0 1 0 0 2
KIRREL2, NPHS1 1 0 1 0 0 2
LDLR 1 1 0 0 0 2
LOC107982234, WT1 0 0 2 0 0 2
LRP5 1 0 1 0 0 2
MERTK 1 1 0 0 0 2
MKKS 2 0 0 0 0 2
MMUT 1 1 0 0 0 2
MPDZ 0 2 0 0 0 2
NOTCH3 0 0 2 0 0 2
NSD1 0 2 0 0 0 2
OAT 1 1 0 0 0 2
PLCE1 0 1 1 0 0 2
PNPO 1 0 1 0 0 2
POLR2F, SOX10 1 1 0 0 0 2
PRKCSH 1 1 0 0 0 2
PROC 2 0 0 0 0 2
PTPN11 1 0 1 0 0 2
RAX2 0 0 2 0 0 2
RSPO4 2 0 0 0 0 2
RUNX2 2 0 0 0 0 2
SCAPER 0 2 0 0 0 2
SCN5A 0 0 2 0 0 2
SEC63 1 1 0 0 0 2
SHROOM4 0 0 2 0 0 2
SLC4A1 0 0 2 0 0 2
SLC7A9 0 1 1 0 0 2
SOS1 0 0 2 0 0 2
TBX6 1 1 0 0 0 2
TRPM1 0 2 0 0 0 2
TTC21B 1 0 1 0 0 2
TTLL5 1 1 0 0 0 2
UMOD 0 1 1 0 0 2
USH1C 1 1 0 0 0 2
VIPAS39 1 1 0 0 0 2
VWF 0 1 1 0 0 2
ABCA4, LOC126805793 0 0 1 0 0 1
ABCC8 0 1 0 0 0 1
ABHD12 0 1 0 0 0 1
ACADVL 1 0 0 0 0 1
ACAN 0 1 0 0 0 1
ACTN2 0 1 0 0 0 1
ADA2 0 1 0 0 0 1
ALAD 0 0 1 0 0 1
AMN 1 0 0 0 0 1
AMN, CDC42BPB, LOC130056553 1 0 0 0 0 1
ANK1 0 1 0 0 0 1
ANOS1 0 0 1 0 0 1
ARG1 0 1 0 0 0 1
ARHGAP24 0 0 1 0 0 1
ASS1 0 1 0 0 0 1
ATP1A1 0 0 1 0 0 1
ATP6V0A4 1 0 0 0 0 1
ATP6V1B1 0 0 1 0 0 1
AVP 0 1 0 0 0 1
AVPR2 1 0 0 0 0 1
B3GALT6 1 0 0 0 0 1
BBS1, ZDHHC24 0 1 0 0 0 1
BBS4 1 0 0 0 0 1
BBS9 0 1 0 0 0 1
BCKDHA 0 1 0 0 0 1
BSCL2, HNRNPUL2-BSCL2 0 1 0 0 0 1
BSND 0 0 1 0 0 1
BVES 0 0 1 0 0 1
C1S 0 0 1 0 0 1
C2 1 0 0 0 0 1
C8B 1 0 0 0 0 1
C9 0 0 1 0 0 1
CA2 1 0 0 0 0 1
CABP4 1 0 0 0 0 1
CACNA1A 0 1 0 0 0 1
CACNA1F 0 1 0 0 0 1
CACNB2 0 0 1 0 0 1
CBLIF 0 1 0 0 0 1
CBS 1 0 0 0 0 1
CDK13, LOC129998292 1 0 0 0 0 1
CDKN1C 0 0 1 0 0 1
CERKL, ITGA4 1 0 0 0 0 1
CHD2 0 0 1 0 0 1
CHD7 0 1 0 0 0 1
CHD7, LOC126860403 0 0 1 0 0 1
CHD8 0 1 0 0 0 1
CLCN7 1 0 0 0 0 1
CLDN14 0 1 0 0 0 1
CLDN16 1 0 0 0 0 1
CNGB1 0 1 0 0 0 1
CNGB3 0 1 0 0 0 1
COL17A1 1 0 0 0 0 1
COL1A1, LOC126862586 1 0 0 0 0 1
COL1A2 1 0 0 0 0 1
COL5A2 0 0 1 0 0 1
COL7A1 1 0 0 0 0 1
COQ6, ENTPD5 0 0 1 0 0 1
COQ8B 1 0 0 0 0 1
CRB1 0 1 0 0 0 1
CSRP3 0 1 0 0 0 1
CTNNB1, LOC126806658 0 0 1 0 0 1
CTXN2, SLC12A1 0 1 0 0 0 1
CYP24A1 0 1 0 0 0 1
DIAPH1 0 0 1 0 0 1
DNAH5 0 1 0 0 0 1
DNAJB11 0 0 1 0 0 1
DRAM2 0 1 0 0 0 1
DSP 0 0 1 0 0 1
DSTYK 0 0 1 0 0 1
DYM 0 1 0 0 0 1
EDA 1 0 0 0 0 1
EHMT1 0 0 1 0 0 1
EHMT1, LOC130003148 1 0 0 0 0 1
EIF2AK3 0 0 1 0 0 1
ELP4, PAX6 0 0 1 0 0 1
EPG5 0 0 1 0 0 1
ERF 0 1 0 0 0 1
ETFDH 0 1 0 0 0 1
FAH 1 0 0 0 0 1
FANCA 1 0 0 0 0 1
FECH 0 0 1 0 0 1
FKBP10 1 0 0 0 0 1
FLCN 0 1 0 0 0 1
FLNA 1 0 0 0 0 1
FN1 0 0 1 0 0 1
GDF5 0 1 0 0 0 1
GHR 1 0 0 0 0 1
GJA1 1 0 0 0 0 1
GLI2 1 0 0 0 0 1
GNPTAB 0 1 0 0 0 1
GPHN, RDH12 0 1 0 0 0 1
GPR179 1 0 0 0 0 1
GRHPR 0 0 1 0 0 1
GRIN1 0 1 0 0 0 1
GRXCR1 1 0 0 0 0 1
GUCA1A, GUCA1ANB-GUCA1A 0 0 1 0 0 1
HADHB 0 0 1 0 0 1
HBA2, LOC106804612 0 1 0 0 0 1
HBB, LOC106099062, LOC107133510 0 0 1 0 0 1
HBB, LOC107133510, LOC110006319 0 0 1 0 0 1
HECW2 0 0 1 0 0 1
HEXB 1 0 0 0 0 1
HNF4A 0 1 0 0 0 1
HSD11B2 0 0 1 0 0 1
HUWE1 1 0 0 0 0 1
IFITM5, PGGHG 0 1 0 0 0 1
IFT140 0 1 0 0 0 1
IFT140, LOC126862260 1 0 0 0 0 1
IFT27 0 0 1 0 0 1
IGF1, LINC02456 0 1 0 0 0 1
IMPDH1 0 0 1 0 0 1
JPH2 0 1 0 0 0 1
KCND3 0 0 1 0 0 1
KCNE2, LOC105372791 0 0 1 0 0 1
KCNH2 0 0 1 0 0 1
KCNQ2 1 0 0 0 0 1
KDM1A 0 0 1 0 0 1
KIAA0586 1 0 0 0 0 1
KIF1A 0 0 1 0 0 1
KIF22 0 0 1 0 0 1
KMT2A 1 0 0 0 0 1
KMT2C 0 1 0 0 0 1
KRT1 1 0 0 0 0 1
KRT5, LOC126861525 0 1 0 0 0 1
LMNA 1 0 0 0 0 1
LOC102724058, SCN1A 0 0 1 0 0 1
LOC105369889, POC1B 0 1 0 0 0 1
LOC107548112, REN 0 1 0 0 0 1
LOC107652445, SHOX 0 1 0 0 0 1
LOC111811965, MIR4733HG, NF1 0 1 0 0 0 1
LOC123038185, SLCO2A1 0 0 1 0 0 1
LOC126860392, RP1 1 0 0 0 0 1
LOC126862088, TRPM1 0 0 1 0 0 1
LOC130008356, POC1B, POC1B-GALNT4 0 1 0 0 0 1
LOC130058211, PKD1 1 0 0 0 0 1
LOC130058907, SLC5A2 0 1 0 0 0 1
LRRK2 1 0 0 0 0 1
MARS1 0 0 1 0 0 1
MBTPS2 0 0 1 0 0 1
MCCC2 0 0 1 0 0 1
MECP2 1 0 0 0 0 1
MITF 0 1 0 0 0 1
MLH1 0 1 0 0 0 1
MMAB 0 1 0 0 0 1
MMACHC 1 0 0 0 0 1
MYCN 0 1 0 0 0 1
MYH7 0 1 0 0 0 1
NEK9 0 0 1 0 0 1
NEUROD1 0 0 1 0 0 1
NEXN 0 1 0 0 0 1
NF2 1 0 0 0 0 1
NIPBL 1 0 0 0 0 1
NLGN4X 0 0 1 0 0 1
NMNAT1 0 1 0 0 0 1
NOC3L, PLCE1 0 0 1 0 0 1
NOG 0 1 0 0 0 1
NR2E3 0 1 0 0 0 1
NR3C2 0 1 0 0 0 1
OCRL 0 1 0 0 0 1
OFD1 0 1 0 0 0 1
OSGEP 0 0 1 0 0 1
OTOGL 0 1 0 0 0 1
P3H1 1 0 0 0 0 1
P3H2 0 1 0 0 0 1
PACS2 1 0 0 0 0 1
PALB2 0 0 1 0 0 1
PAX4 0 0 1 0 0 1
PAX6 1 0 0 0 0 1
PCARE 0 1 0 0 0 1
PDE6B 1 0 0 0 0 1
PHEX, PTCHD1 0 0 1 0 0 1
PHKA2 0 1 0 0 0 1
PKD1, TSC2 0 0 1 0 0 1
PLEC 0 0 1 0 0 1
PMS2 0 1 0 0 0 1
PNLIP 0 1 0 0 0 1
PRKAG2 0 0 1 0 0 1
PRPF31, TFPT 1 0 0 0 0 1
RFT1 0 1 0 0 0 1
RHO 0 1 0 0 0 1
RLBP1 0 1 0 0 0 1
RLIM 0 0 1 0 0 1
RP1 0 1 0 0 0 1
RP1L1 0 1 0 0 0 1
RP2 0 1 0 0 0 1
RPE65 0 1 0 0 0 1
RPGR 1 0 0 0 0 1
RPGRIP1 0 0 1 0 0 1
RPGRIP1L 1 0 0 0 0 1
SATB2 0 1 0 0 0 1
SCNN1A 1 0 0 0 0 1
SERPINF1 1 0 0 0 0 1
SETD5 0 0 1 0 0 1
SGPL1 0 1 0 0 0 1
SHANK3 0 0 1 0 0 1
SIX5 0 0 1 0 0 1
SLC12A1 1 0 0 0 0 1
SLC22A5 0 1 0 0 0 1
SLC26A3 0 0 1 0 0 1
SLC2A2 1 0 0 0 0 1
SLC37A4 0 1 0 0 0 1
SLC38A8 0 1 0 0 0 1
SLC6A8 1 0 0 0 0 1
SON 0 0 1 0 0 1
SP7 0 0 1 0 0 1
TAF1 0 0 1 0 0 1
TBCEL-TECTA, TECTA 0 0 1 0 0 1
TCOF1 1 0 0 0 0 1
TCTN1 1 0 0 0 0 1
TGFBR1 0 1 0 0 0 1
THBD 0 0 1 0 0 1
THRB 0 1 0 0 0 1
TLK2 0 0 1 0 0 1
TNNI3 0 0 1 0 0 1
TOPORS 0 0 1 0 0 1
TP53 1 0 0 0 0 1
TP63 1 0 0 0 0 1
TRIO 0 0 1 0 0 1
TRPV6 0 0 1 0 0 1
TRRAP 1 0 0 0 0 1
TUBB2A 0 0 1 0 0 1
TULP1 1 0 0 0 0 1
VDR 0 0 1 0 0 1
VPS13C 0 0 1 0 0 1
VPS33B 0 1 0 0 0 1
WAS 1 0 0 0 0 1
WDR73 1 0 0 0 0 1
WHRN 0 0 1 0 0 1
WNT10B 0 1 0 0 0 1
WWOX 0 1 0 0 0 1
XDH 1 0 0 0 0 1
ZFP57 0 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 368
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Autosomal dominant Alport syndrome 36 43 52 1 0 132
Polycystic kidney disease, adult type 38 28 43 0 0 109
X-linked Alport syndrome 35 32 16 1 0 84
Imerslund-Grasbeck syndrome 3 9 10 0 0 22
Focal segmental glomerulosclerosis 5 8 0 8 0 0 16
Polycystic kidney disease 2 11 3 1 0 0 15
Autosomal recessive Alport syndrome 3 8 3 0 0 14
Hemolytic uremic syndrome, atypical, susceptibility to, 1 7 2 5 0 0 14
Familial cancer of breast 10 2 1 0 0 13
Cone-rod dystrophy 3 5 6 1 0 0 12
Familial renal glucosuria 1 4 7 0 0 12
Focal segmental glomerulosclerosis 2 1 1 10 0 0 12
Neurofibromatosis, type 1 3 8 0 0 0 11
Atypical hemolytic-uremic syndrome with I factor anomaly 0 3 7 0 0 10
Autosomal recessive hypophosphatemic bone disease 1 3 6 0 0 10
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 1 0 9 0 0 10
Nephrotic syndrome, type 2 8 2 0 0 0 10
Autosomal recessive polycystic kidney disease 2 6 1 0 0 9
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly 6 1 1 0 0 8
Familial hypokalemia-hypomagnesemia 2 5 1 0 0 8
Finnish congenital nephrotic syndrome 4 2 2 0 0 8
Nephrotic syndrome, type 4 2 1 5 0 0 8
Retinitis pigmentosa 25 4 2 2 0 0 8
Autosomal recessive bestrophinopathy 3 3 1 0 0 7
Focal segmental glomerulosclerosis 1 0 3 4 0 0 7
Immunoglobulin-mediated membranoproliferative glomerulonephritis 4 3 0 0 0 7
Osteogenesis imperfecta type I 4 2 1 0 0 7
Atypical hemolytic-uremic syndrome with B factor anomaly 1 0 5 0 0 6
Familial X-linked hypophosphatemic vitamin D refractory rickets 2 2 2 0 0 6
Focal segmental glomerulosclerosis 9 0 1 5 0 0 6
LAMB2-related infantile-onset nephrotic syndrome 2 2 0 0 2 6
Nail-patella syndrome 4 1 1 0 0 6
Retinitis pigmentosa 39 3 3 0 0 0 6
Schimke immuno-osseous dysplasia 3 2 1 0 0 6
Tuberous sclerosis 2 2 2 2 0 0 6
Usher syndrome type 2A 4 1 1 0 0 6
Usher syndrome type 2C 2 1 3 0 0 6
Atypical hemolytic-uremic syndrome with C3 anomaly 1 2 2 0 0 5
Focal segmental glomerulosclerosis 3, susceptibility to 1 1 3 0 0 5
Long QT syndrome 1 3 1 1 0 0 5
Nephrotic syndrome, type 12 1 1 3 0 0 5
Retinitis pigmentosa 11 2 2 1 0 0 5
SHOX-related short stature 0 1 3 1 0 5
Adult-onset foveomacular vitelliform dystrophy 1 3 0 0 0 4
Fabry disease 1 1 2 0 0 4
Familial hypocalciuric hypercalcemia 1 1 1 2 0 0 4
Focal segmental glomerulosclerosis 7 0 0 4 0 0 4
Focal segmental glomerulosclerosis 8 0 0 4 0 0 4
Hypercalcemia, infantile, 2 1 2 1 0 0 4
Hypertrophic cardiomyopathy 4 2 2 0 0 0 4
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 1 2 1 0 0 4
Nephronophthisis 4 2 2 0 0 0 4
Townes-Brocks syndrome 1 0 3 1 0 0 4
Usher syndrome type 1 1 3 0 0 0 4
Adult hypophosphatasia 3 0 0 0 0 3
Alagille syndrome due to a NOTCH2 point mutation 0 1 2 0 0 3
Autosomal recessive nonsyndromic hearing loss 3 2 0 1 0 0 3
Branchiootorenal syndrome 1 1 1 1 0 0 3
Choroideremia 1 1 1 0 0 3
Complement component 3 deficiency 1 1 0 1 0 3
Cone dystrophy 4 2 1 0 0 0 3
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay 0 3 0 0 0 3
Congenital stationary night blindness 1C 0 2 1 0 0 3
Dent disease type 1 0 1 2 0 0 3
Glycogen storage disease type III 1 2 0 0 0 3
Glycogen storage disease, type II 2 0 1 0 0 3
Hypertrophic cardiomyopathy 9 0 0 3 0 0 3
Hypouricemia, renal, 2 1 1 1 0 0 3
Imerslund-Grasbeck syndrome type 1 2 0 1 0 0 3
Kabuki syndrome 1 2 0 1 0 0 3
Lynch syndrome 4 1 2 0 0 0 3
Maple syrup urine disease 0 3 0 0 0 3
Maturity-onset diabetes of the young type 2 0 1 2 0 0 3
Nephrotic syndrome, type 3 0 1 2 0 0 3
Primary hyperoxaluria type 3 1 1 1 0 0 3
Retinitis pigmentosa 26 2 1 0 0 0 3
Severe early-childhood-onset retinal dystrophy 1 2 0 0 0 3
Achromatopsia 2 0 2 0 0 0 2
Alagille syndrome due to a JAG1 point mutation 1 0 1 0 0 2
Alstrom syndrome 1 1 0 0 0 2
Aniridia 1 1 0 1 0 0 2
Anonychia 2 0 0 0 0 2
Arthrogryposis, renal dysfunction, and cholestasis 2 1 1 0 0 0 2
Autosomal dominant distal renal tubular acidosis 0 0 2 0 0 2
Autosomal dominant hypocalcemia 1 1 1 0 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2A 1 0 1 0 0 2
Autosomal recessive nonsyndromic hearing loss 18A 1 1 0 0 0 2
Bardet-Biedl syndrome 6 2 0 0 0 0 2
Bartter disease type 1 1 1 0 0 0 2
Bartter disease type 3 1 0 1 0 0 2
Blepharophimosis, ptosis, and epicanthus inversus syndrome 1 1 0 0 0 2
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 0 0 2 0 0 2
Cleidocranial dysostosis 2 0 0 0 0 2
Coenzyme Q10 deficiency, primary, 1 0 1 1 0 0 2
Complement component 7 deficiency 2 0 0 0 0 2
Cone-rod dystrophy 11 0 0 2 0 0 2
Cone-rod dystrophy 19 1 1 0 0 0 2
Cone-rod dystrophy 20 0 2 0 0 0 2
Congenital contractural arachnodactyly 0 0 2 0 0 2
Cystinuria 0 1 1 0 0 2
Deficiency of steroid 11-beta-monooxygenase 0 0 2 0 0 2
Ellis-van Creveld syndrome 1 1 0 0 0 2
Familial adenomatous polyposis 1 2 0 0 0 0 2
Familial juvenile hyperuricemic nephropathy type 1 0 1 1 0 0 2
Fraser syndrome 2 2 0 0 0 0 2
Glutaric aciduria, type 1 1 1 0 0 0 2
Hereditary fructosuria 2 0 0 0 0 2
Hydrocephalus, nonsyndromic, autosomal recessive 2 0 2 0 0 0 2
Hypercholesterolemia, familial, 1 1 1 0 0 0 2
Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 1 1 0 0 0 2
Hypochondroplasia 2 0 0 0 0 2
Hypogonadotropic hypogonadism 5 with or without anosmia 0 1 1 0 0 2
Immunodeficiency, common variable, 7 0 1 1 0 0 2
Infantile hypophosphatasia 1 1 0 0 0 2
Intellectual developmental disorder and retinitis pigmentosa; IDDRP 0 2 0 0 0 2
Jalili syndrome 1 1 0 0 0 2
Joubert syndrome 7 1 0 1 0 0 2
Kleefstra syndrome 1 1 0 1 0 0 2
Maturity-onset diabetes of the young type 3 1 1 0 0 0 2
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 1 1 0 0 0 2
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 1 0 1 0 0 2
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome 0 1 1 0 0 2
Multiple epiphyseal dysplasia type 1 0 0 2 0 0 2
Nephronophthisis 15 2 0 0 0 0 2
Noonan syndrome 4 0 0 2 0 0 2
Ornithine aminotransferase deficiency 1 1 0 0 0 2
Osteogenesis imperfecta, perinatal lethal 1 1 0 0 0 2
Pilarowski-Bjornsson syndrome 0 0 2 0 0 2
Polycystic liver disease 1 1 1 0 0 0 2
Polycystic liver disease 2 1 1 0 0 0 2
Pyridoxal phosphate-responsive seizures 1 0 1 0 0 2
Renal cysts and diabetes syndrome 2 0 0 0 0 2
Renal dysplasia, cystic, susceptibility to 0 0 2 0 0 2
Retinitis pigmentosa 1 1 1 0 0 0 2
Retinitis pigmentosa 38 1 1 0 0 0 2
Retinitis pigmentosa 56 2 0 0 0 0 2
Retinitis pigmentosa 80 1 1 0 0 0 2
Retinoblastoma 0 2 0 0 0 2
Rubinstein-Taybi syndrome due to CREBBP mutations 0 1 1 0 0 2
Sotos syndrome 0 2 0 0 0 2
Spondylocostal dysostosis 5 1 1 0 0 0 2
Thrombophilia due to protein C deficiency, autosomal dominant 2 0 0 0 0 2
Type 2 diabetes mellitus 1 0 1 0 0 2
Upshaw-Schulman syndrome 0 2 0 0 0 2
Usher syndrome type 1D 2 0 0 0 0 2
Vitamin K-dependent clotting factors, combined deficiency of, type 1 0 2 0 0 0 2
Waardenburg syndrome type 2E 1 1 0 0 0 2
Warsaw breakage syndrome 0 2 0 0 0 2
X-linked intellectual disability, Stocco dos Santos type 0 0 2 0 0 2
beta Thalassemia 0 0 2 0 0 2
von Willebrand disease type 1 0 1 1 0 0 2
3-methylcrotonyl-CoA carboxylase 2 deficiency 0 0 1 0 0 1
Achondrogenesis type II 0 1 0 0 0 1
Achondroplasia 1 0 0 0 0 1
Apparent mineralocorticoid excess 0 0 1 0 0 1
Arginase deficiency 0 1 0 0 0 1
Arrhythmogenic right ventricular dysplasia 8 0 0 1 0 0 1
Arthrogryposis, renal dysfunction, and cholestasis 1 0 1 0 0 0 1
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly 0 0 1 0 0 1
Autism, susceptibility to, X-linked 2 0 0 1 0 0 1
Autosomal dominant Parkinson disease 8 1 0 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 1 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 12 0 0 1 0 0 1
Autosomal dominant osteopetrosis 1 1 0 0 0 0 1
Autosomal dominant osteopetrosis 2 1 0 0 0 0 1
Autosomal dominant pseudohypoaldosteronism type 1 0 1 0 0 0 1
Autosomal recessive distal renal tubular acidosis 1 0 0 0 0 1
Autosomal recessive early-onset Parkinson disease 23 0 0 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2Q 0 0 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2X 0 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 25 1 0 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 29 0 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 84B 0 1 0 0 0 1
Autosomal recessive pseudohypoaldosteronism type 1 1 0 0 0 0 1
Bardet-Biedl syndrome 1 0 1 0 0 0 1
Bardet-Biedl syndrome 19 0 0 1 0 0 1
Bardet-Biedl syndrome 4 1 0 0 0 0 1
Bardet-Biedl syndrome 9 0 1 0 0 0 1
Bartter disease type 4A 0 0 1 0 0 1
Beckwith-Wiedemann syndrome 0 0 1 0 0 1
Benign familial hematuria 0 1 0 0 0 1
Birt-Hogg-Dube syndrome 0 1 0 0 0 1
Brachydactyly type C 0 1 0 0 0 1
Branchiootorenal syndrome 2 0 0 1 0 0 1
Brugada syndrome 1 0 0 1 0 0 1
Brugada syndrome 4 0 0 1 0 0 1
Brugada syndrome 9 0 0 1 0 0 1
Bullous ichthyosiform erythroderma 1 0 0 0 0 1
Charcot-Marie-Tooth disease axonal type 2U 0 0 1 0 0 1
Chromosome 2q32-q33 deletion syndrome 0 1 0 0 0 1
Citrullinemia type I 0 1 0 0 0 1
Classic homocystinuria 1 0 0 0 0 1
Cobalamin C disease 1 0 0 0 0 1
Colorectal cancer, hereditary nonpolyposis, type 2 0 1 0 0 0 1
Complement component 2 deficiency 1 0 0 0 0 1
Complement component 9 deficiency 0 0 1 0 0 1
Complement component C1s deficiency 0 0 1 0 0 1
Complex cortical dysplasia with other brain malformations 5 0 0 1 0 0 1
Cone dystrophy 3 0 0 1 0 0 1
Cone-rod dystrophy 2 0 1 0 0 0 1
Cone-rod dystrophy 21 0 1 0 0 0 1
Cone-rod dystrophy 6 0 1 0 0 0 1
Cone-rod synaptic disorder, congenital nonprogressive 1 0 0 0 0 1
Congenital anomalies of kidney and urinary tract 1 0 0 1 0 0 1
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 1 0 0 0 0 1
Congenital secretory diarrhea, chloride type 0 0 1 0 0 1
Congenital stationary night blindness 1E 1 0 0 0 0 1
Cornelia de Lange syndrome 1 1 0 0 0 0 1
Craniosynostosis 4 0 1 0 0 0 1
Creatine transporter deficiency 1 0 0 0 0 1
Crouzon syndrome 1 0 0 0 0 1
Developmental and epileptic encephalopathy 94 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 28 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 66 1 0 0 0 0 1
Developmental delay with or without dysmorphic facies and autism 1 0 0 0 0 1
Diabetes insipidus, nephrogenic, X-linked 1 0 0 0 0 1
Diabetes mellitus, transient neonatal, 1 0 0 1 0 0 1
Dilated cardiomyopathy 1A 1 0 0 0 0 1
Dilated cardiomyopathy 1AA 0 1 0 0 0 1
Dilated cardiomyopathy 1CC 0 1 0 0 0 1
Dyggve-Melchior-Clausen syndrome 0 1 0 0 0 1
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 1 0 0 0 0 1
Ehlers-Danlos syndrome, classic type 0 0 1 0 0 1
Epidermolysis bullosa simplex, Koebner type 0 1 0 0 0 1
Episodic ataxia type 2 0 1 0 0 0 1
Familial juvenile hyperuricemic nephropathy type 2 0 1 0 0 0 1
Familial steroid-resistant nephrotic syndrome with sensorineural deafness 0 0 1 0 0 1
Fanconi anemia complementation group A 1 0 0 0 0 1
Fanconi-Bickel syndrome 1 0 0 0 0 1
Feingold syndrome type 1 0 1 0 0 0 1
Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome 0 1 0 0 0 1
Galloway-Mowat syndrome 1 1 0 0 0 0 1
Galloway-Mowat syndrome 3 0 0 1 0 0 1
Generalized dominant dystrophic epidermolysis bullosa 1 0 0 0 0 1
Glomerulopathy with fibronectin deposits 2 0 0 1 0 0 1
Glucose-6-phosphate transport defect 0 1 0 0 0 1
Glycogen storage disease IXa1 0 1 0 0 0 1
Growth delay due to insulin-like growth factor type 1 deficiency 0 1 0 0 0 1
Hereditary intrinsic factor deficiency 0 1 0 0 0 1
Hereditary spherocytosis type 1 0 1 0 0 0 1
Hereditary xanthinuria type 1 1 0 0 0 0 1
Heterotopia, periventricular, X-linked dominant 1 0 0 0 0 1
Hypercalcemia, infantile, 1 0 1 0 0 0 1
Hyperinsulinemic hypoglycemia, familial, 1 0 1 0 0 0 1
Hyperparathyroidism, transient neonatal 0 0 1 0 0 1
Hypertrophic cardiomyopathy 1 0 1 0 0 0 1
Hypertrophic cardiomyopathy 12 0 1 0 0 0 1
Hypertrophic cardiomyopathy 17 0 1 0 0 0 1
Hypertrophic cardiomyopathy 6 0 0 1 0 0 1
Hypertrophic cardiomyopathy 7 0 0 1 0 0 1
Hypogonadotropic hypogonadism 1 with or without anosmia 0 0 1 0 0 1
Hypohidrotic X-linked ectodermal dysplasia 1 0 0 0 0 1
Hypomagnesemia, seizures, and intellectual disability 2 0 0 1 0 0 1
Intellectual developmental disorder with autism and macrocephaly 0 1 0 0 0 1
Intellectual disability, X-linked 61 0 0 1 0 0 1
Intellectual disability, X-linked syndromic, Turner type 1 0 0 0 0 1
Intellectual disability, X-linked, syndromic 33 0 0 1 0 0 1
Intellectual disability, autosomal dominant 57 0 0 1 0 0 1
Intellectual disability, autosomal dominant 8 0 1 0 0 0 1
Intellectual disability, autosomal dominant 9 0 0 1 0 0 1
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 0 0 1 0 0 1
Joubert syndrome 13 1 0 0 0 0 1
Joubert syndrome 5 1 0 0 0 0 1
Junctional epidermolysis bullosa, non-Herlitz type 1 0 0 0 0 1
Kleefstra syndrome 2 0 1 0 0 0 1
Kniest dysplasia 0 0 1 0 0 1
Laron-type isolated somatotropin defect 1 0 0 0 0 1
Leber congenital amaurosis 1 0 1 0 0 0 1
Leber congenital amaurosis 10 0 1 0 0 0 1
Leber congenital amaurosis 13 0 1 0 0 0 1
Leber congenital amaurosis 15 1 0 0 0 0 1
Leber congenital amaurosis 7 0 1 0 0 0 1
Leber congenital amaurosis 8 0 1 0 0 0 1
Leber congenital amaurosis 9 0 1 0 0 0 1
Li-Fraumeni syndrome 1 1 0 0 0 0 1
Loeys-Dietz syndrome 1 0 1 0 0 0 1
Long QT syndrome 3 0 0 1 0 0 1
Long QT syndrome 6 0 0 1 0 0 1
Lowe syndrome 0 1 0 0 0 1
Maturity-onset diabetes of the young type 1 0 1 0 0 0 1
Maturity-onset diabetes of the young type 6 0 0 1 0 0 1
Maturity-onset diabetes of the young type 9 0 0 1 0 0 1
Metachondromatosis 1 0 0 0 0 1
Methylmalonic aciduria, cblB type 0 1 0 0 0 1
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 0 0 1 0 0 1
Mitochondrial trifunctional protein deficiency 0 0 1 0 0 1
Mucolipidosis type II 0 1 0 0 0 1
Multiple acyl-CoA dehydrogenase deficiency 0 1 0 0 0 1
Myopia, high, with cataract and vitreoretinal degeneration 0 1 0 0 0 1
NEK9-related lethal skeletal dysplasia 0 0 1 0 0 1
Nephrotic syndrome 14 0 1 0 0 0 1
Nephrotic syndrome, type 9 1 0 0 0 0 1
Neurodevelopmental disorder with hypotonia, seizures, and absent language 0 0 1 0 0 1
Neurofibromatosis, type 2 1 0 0 0 0 1
Neurohypophyseal diabetes insipidus 0 1 0 0 0 1
Noonan syndrome 1 0 0 1 0 0 1
Orofaciodigital syndrome I 0 1 0 0 0 1
Osteochondritis dissecans 0 1 0 0 0 1
Osteogenesis imperfecta type 11 1 0 0 0 0 1
Osteogenesis imperfecta type 12 0 0 1 0 0 1
Osteogenesis imperfecta type 5 0 1 0 0 0 1
Osteogenesis imperfecta type 6 1 0 0 0 0 1
Osteogenesis imperfecta type 8 1 0 0 0 0 1
Osteogenesis imperfecta, type 19 0 0 1 0 0 1
Osteopetrosis with renal tubular acidosis 1 0 0 0 0 1
PHARC syndrome 0 1 0 0 0 1
PPARG-related familial partial lipodystrophy 0 1 0 0 0 1
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome 0 0 1 0 0 1
Pancreatic triacylglycerol lipase deficiency 0 1 0 0 0 1
Pfeiffer syndrome 1 0 0 0 0 1
Phelan-McDermid syndrome 0 0 1 0 0 1
Pigmentary retinal dystrophy 0 1 0 0 0 1
Polycystic kidney disease 6 with or without polycystic liver disease 0 0 1 0 0 1
Polycystic liver disease 4 with or without kidney cysts 0 0 1 0 0 1
Porphobilinogen synthase deficiency 0 0 1 0 0 1
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 1 0 0 0 0 1
Primary ciliary dyskinesia 3 0 1 0 0 0 1
Primary hyperoxaluria, type II 0 0 1 0 0 1
Primary hypomagnesemia 1 0 0 0 0 1
Protoporphyria, erythropoietic, 1 0 0 1 0 0 1
Proximal symphalangism 1A 0 1 0 0 0 1
RFT1-congenital disorder of glycosylation 0 1 0 0 0 1
Renal carnitine transport defect 0 1 0 0 0 1
Renal coloboma syndrome 0 1 0 0 0 1
Renal tubular acidosis with progressive nerve deafness 0 0 1 0 0 1
Retinitis pigmentosa 10 0 0 1 0 0 1
Retinitis pigmentosa 2 0 1 0 0 0 1
Retinitis pigmentosa 20 0 1 0 0 0 1
Retinitis pigmentosa 3 1 0 0 0 0 1
Retinitis pigmentosa 31 0 0 1 0 0 1
Retinitis pigmentosa 37 0 1 0 0 0 1
Retinitis pigmentosa 4 0 1 0 0 0 1
Retinitis pigmentosa 40 1 0 0 0 0 1
Retinitis pigmentosa 45 0 1 0 0 0 1
Retinitis pigmentosa 54 0 1 0 0 0 1
Rett syndrome 1 0 0 0 0 1
Sandhoff disease 1 0 0 0 0 1
Seizures, benign familial neonatal, 1 1 0 0 0 0 1
Severe intellectual disability-progressive spastic diplegia syndrome 0 0 1 0 0 1
Severe myoclonic epilepsy in infancy 0 0 1 0 0 1
Short QT syndrome type 1 0 0 1 0 0 1
Short-rib thoracic dysplasia 14 with polydactyly 1 0 0 0 0 1
Split hand-foot malformation 6 0 1 0 0 0 1
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 1 0 0 0 0 1
Spondyloepimetaphyseal dysplasia with multiple dislocations 0 0 1 0 0 1
Spondyloperipheral dysplasia 0 1 0 0 0 1
Stickler syndrome type 1 1 0 0 0 0 1
Syndactyly type 5 1 0 0 0 0 1
Thrombocytopenia 1 1 0 0 0 0 1
Thyroid hormone resistance, generalized, autosomal dominant 0 1 0 0 0 1
Treacher Collins syndrome 1 1 0 0 0 0 1
Type II complement component 8 deficiency 1 0 0 0 0 1
Tyrosinemia type I 1 0 0 0 0 1
Ulnar/fibula ray defect-brachydactyly syndrome 0 1 0 0 0 1
Usher syndrome type 2D 0 0 1 0 0 1
Usher syndrome type 3 0 0 1 0 0 1
Usher syndrome type 3A 0 1 0 0 0 1
Vasculitis due to ADA2 deficiency 0 1 0 0 0 1
Very long chain acyl-CoA dehydrogenase deficiency 1 0 0 0 0 1
Vici syndrome 0 0 1 0 0 1
Vitamin D-dependent rickets type II with alopecia 0 0 1 0 0 1
Vitelliform macular dystrophy 5 0 1 0 0 0 1
Waardenburg syndrome type 2A 0 1 0 0 0 1
Wiedemann-Steiner syndrome 1 0 0 0 0 1
Wolcott-Rallison dysplasia 0 0 1 0 0 1
X-linked cone-rod dystrophy 3 0 1 0 0 0 1
ZTTK syndrome 0 0 1 0 0 1
alpha Thalassemia 0 1 0 0 0 1

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