ClinVar Miner

Variants from Knight Diagnostic Laboratories, Oregon Health and Sciences University

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
179 106 207 17 5 511

Gene and significance breakdown #

Total genes and gene combinations: 344
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
GJB2 13 2 0 0 0 14
POLE 0 0 8 0 0 8
TTN 1 0 6 1 0 8
ABCA4 5 2 0 0 0 7
CHEK2 3 4 0 0 0 7
MECP2 5 0 1 0 0 6
RYR1 0 1 5 0 0 6
USH2A 4 1 1 0 0 6
CACNA1S 0 0 5 0 0 5
CEP290 2 3 0 0 0 5
MYH11, NDE1 0 0 5 0 0 5
MYH7 3 0 1 1 0 5
MYO7A 1 2 2 0 0 5
PAH 4 1 0 0 0 5
TMPRSS3 2 2 1 0 0 5
CPT2 2 0 2 0 0 4
GAA 3 1 0 0 0 4
APC 0 1 2 0 0 3
APOB 2 0 1 0 0 3
ATM, C11orf65 3 0 0 0 0 3
ATP7B 1 2 0 0 0 3
CDH1 0 0 3 0 0 3
DMD 0 0 3 0 0 3
DSP 0 0 3 0 0 3
LAMA2 0 1 1 1 0 3
LDLR 0 1 2 0 0 3
MSH2 0 0 3 0 0 3
MSH6 0 1 2 0 0 3
MYBPC3 0 0 3 0 0 3
MYLK 0 0 3 0 0 3
NEB, RIF1 1 2 0 0 0 3
PKP2 0 0 3 0 0 3
PLA2G6 1 2 0 0 0 3
PMS2 0 0 3 0 0 3
POLG 0 3 0 0 0 3
SERPINA1 3 0 0 0 0 3
TGFB2 0 0 3 0 0 3
TSC2 0 0 3 0 0 3
ACADM 1 0 1 0 0 2
ACADVL 1 1 0 0 0 2
ADGRV1 0 1 1 0 0 2
AGL 1 0 1 0 0 2
BRCA1 0 0 2 0 0 2
BRCA2 1 0 1 0 0 2
BRIP1 2 0 0 0 0 2
BTD 2 0 0 0 0 2
CACNB2 0 0 2 0 0 2
CCDST, FLG 2 0 0 0 0 2
COL3A1 0 0 2 0 0 2
COL7A1 1 1 0 0 0 2
CSTB 0 1 1 0 0 2
CYP21A2, LOC106780800 2 0 0 0 0 2
DHCR7 1 0 1 0 0 2
EPG5 0 0 2 0 0 2
F5 1 1 0 0 0 2
FANCA 1 1 0 0 0 2
FANCD2, FANCD2OS 0 0 2 0 0 2
G6PD 2 0 0 0 0 2
GBA1, LOC106627981 2 0 0 0 0 2
GCK 2 0 0 0 0 2
HFE 2 0 0 0 0 2
IDUA 1 0 1 0 0 2
IMPG2 1 0 0 0 1 2
KCNH2 0 0 2 0 0 2
LRPPRC 0 2 0 0 0 2
MITF 1 0 1 0 0 2
MUTYH 1 1 0 0 0 2
MYO15A 0 1 1 0 0 2
NAGA 0 2 0 0 0 2
NEUROG3 2 0 0 0 0 2
PIGO 0 1 1 0 0 2
PLEC 0 0 2 0 0 2
POLD1 0 0 2 0 0 2
POMT1 1 1 0 0 0 2
SH3TC2 1 1 0 0 0 2
SLC3A1 1 1 0 0 0 2
SLC7A9 0 2 0 0 0 2
ABCA12 0 0 1 0 0 1
ABCC9 1 0 0 0 0 1
ACADS 1 0 0 0 0 1
ACSF3 0 0 0 1 0 1
ADAMTS13 0 1 0 0 0 1
AGA 0 1 0 0 0 1
AGXT 1 0 0 0 0 1
AIPL1 1 0 0 0 0 1
ALG1 1 0 0 0 0 1
ALG6 1 0 0 0 0 1
ALMS1 0 1 0 0 0 1
ALOX12B 0 1 0 0 0 1
ALOXE3 1 0 0 0 0 1
AMACR, C1QTNF3-AMACR 0 0 1 0 0 1
AMBN 0 0 0 1 0 1
ANGPT2, MCPH1 0 0 1 0 0 1
ANK2 1 0 0 0 0 1
ANKRD11 1 0 0 0 0 1
ANO5 1 0 0 0 0 1
AP3B2, CPEB1 0 0 1 0 0 1
APBB1, SMPD1 1 0 0 0 0 1
ARHGAP11A-SCG5, SCG5 0 0 1 0 0 1
ARID1B 1 0 0 0 0 1
ARSA 1 0 0 0 0 1
ARSB, LOC129994126 0 0 1 0 0 1
ASAH1 0 0 1 0 0 1
ASL 1 0 0 0 0 1
ASS1 1 0 0 0 0 1
ATL1 0 0 1 0 0 1
ATM 1 0 0 0 0 1
ATRIP, ATRIP-TREX1, TREX1 1 0 0 0 0 1
B3GLCT 1 0 0 0 0 1
B4GALNT1 1 0 0 0 0 1
B9D1 1 0 0 0 0 1
BBS1, ZDHHC24 1 0 0 0 0 1
BCHE 0 0 1 0 0 1
BPNT2 1 0 0 0 0 1
C12orf57 0 0 1 0 0 1
CACNA1B 0 0 0 1 0 1
CACNA1C 0 0 1 0 0 1
CASD1, SGCE 1 0 0 0 0 1
CASQ2 0 0 1 0 0 1
CC2D1A 0 0 1 0 0 1
CCDC40 1 0 0 0 0 1
CCDC8 0 0 0 1 0 1
CDKN1C 0 0 0 0 1 1
CEP290, RLIG1 0 1 0 0 0 1
CEP63 0 0 1 0 0 1
CFI 1 0 0 0 0 1
CFTR 1 0 0 0 0 1
CHRND 0 1 0 0 0 1
CHST14 0 0 1 0 0 1
CLCN2 0 0 0 0 1 1
CLN8 0 0 1 0 0 1
COL11A1 0 1 0 0 0 1
COL18A1, SLC19A1 0 0 1 0 0 1
COL4A3, MFF-DT 0 0 1 0 0 1
COL6A2 0 0 1 0 0 1
CRB1 0 0 1 0 0 1
CRTAP 0 1 0 0 0 1
CTC1 0 0 1 0 0 1
CTC1, PFAS 0 0 1 0 0 1
CTNS 1 0 0 0 0 1
CTRC 1 0 0 0 0 1
CUL7 0 0 1 0 0 1
CYP24A1 0 1 0 0 0 1
CYP27A1 0 1 0 0 0 1
DBT 1 0 0 0 0 1
DHODH 0 0 1 0 0 1
DMPK, LOC107075317 0 0 1 0 0 1
DOCK7 0 0 1 0 0 1
DOCK7, LOC129930655 0 0 1 0 0 1
DUOX2 1 0 0 0 0 1
DYNC1H1 0 0 1 0 0 1
DYNC2I1 0 0 0 1 0 1
EIF2B4 0 0 1 0 0 1
EIF2B5 0 1 0 0 0 1
ELOVL5 0 0 0 1 0 1
ENG 0 0 1 0 0 1
EPCAM 0 0 1 0 0 1
EPM2A 1 0 0 0 0 1
ERCC2 0 1 0 0 0 1
ERCC4 0 0 1 0 0 1
ERCC6 0 1 0 0 0 1
ERCC6L2 0 1 0 0 0 1
ERP44, INVS 0 1 0 0 0 1
EYS 0 1 0 0 0 1
F11 0 1 0 0 0 1
F13B 0 0 1 0 0 1
F7 1 0 0 0 0 1
F8 0 1 0 0 0 1
FAH 0 0 1 0 0 1
FANCA, LOC112486223 1 0 0 0 0 1
FANCA, LOC132090450 1 0 0 0 0 1
FANCA, ZNF276 1 0 0 0 0 1
FANCG 0 1 0 0 0 1
FASN 0 0 1 0 0 1
FAT4 0 0 1 0 0 1
FBN1 0 0 1 0 0 1
FECH 0 1 0 0 0 1
FGA 1 0 0 0 0 1
FGFR2 1 0 0 0 0 1
FKBP14 0 0 1 0 0 1
FKTN 1 0 0 0 0 1
FOXP1 1 0 0 0 0 1
FREM2 0 0 1 0 0 1
G6PC1 1 0 0 0 0 1
GABBR2 0 0 1 0 0 1
GALT 1 0 0 0 0 1
GAREM2, HADHA 1 0 0 0 0 1
GATA4 0 0 1 0 0 1
GFER, LOC130058203 0 1 0 0 0 1
GLA, RPL36A-HNRNPH2 0 1 0 0 0 1
GLDC 0 1 0 0 0 1
GNAO1 1 0 0 0 0 1
GNE 1 0 0 0 0 1
GRIP1 0 0 0 1 0 1
GYS2 0 1 0 0 0 1
HADH 0 1 0 0 0 1
HBB, LOC106099062, LOC107133510 1 0 0 0 0 1
HBB, LOC107133510, LOC110006319 1 0 0 0 0 1
HEXA 1 0 0 0 0 1
HEXB 0 0 1 0 0 1
HGD 1 0 0 0 0 1
HMBS 0 0 1 0 0 1
HRAS, LRRC56 0 1 0 0 0 1
HYLS1, PUS3 1 0 0 0 0 1
ILDR1 0 0 1 0 0 1
ITGB4 0 1 0 0 0 1
IVD 0 1 0 0 0 1
KCND3 0 0 1 0 0 1
KCNQ1 0 0 1 0 0 1
KCNQ4 1 0 0 0 0 1
KCNV2 1 0 0 0 0 1
KIF1C 0 0 1 0 0 1
KIT 0 0 1 0 0 1
KMT2A 0 1 0 0 0 1
KPNA7 0 0 1 0 0 1
LAMB3 1 0 0 0 0 1
LIPT1, MITD1 0 1 0 0 0 1
LIX1L, LOC126805851, RBM8A 0 1 0 0 0 1
LMNA 0 0 1 0 0 1
LOC114827850, MYL2 0 0 1 0 0 1
LOC126806067, RYR2 0 0 1 0 0 1
LOC126806421, TTN 0 0 1 0 0 1
LOC126859690, PKHD1 0 1 0 0 0 1
LOC126860438, NBN 1 0 0 0 0 1
LOC126862264, MEFV 1 1 0 0 0 1
LOC130055602, NIN 0 0 0 1 0 1
LPO, MPO 0 1 0 0 0 1
MCCC2 1 0 0 0 0 1
MCEE 1 0 0 0 0 1
MKS1 1 0 0 0 0 1
MMAA 0 1 0 0 0 1
MMACHC 1 0 0 0 0 1
MTFMT 1 0 0 0 0 1
MTMR2 1 0 0 0 0 1
MTO1 0 1 0 0 0 1
MVK 1 0 0 0 0 1
MYH11 0 0 1 0 0 1
MYL3 0 1 0 0 0 1
MYO19, PIGW 0 1 0 0 0 1
MYPN 0 0 1 0 0 1
NAGLU 1 0 0 0 0 1
NARS2 0 1 0 0 0 1
NBEAL2 0 0 0 1 0 1
NBN 1 0 0 0 0 1
NEB 0 0 1 0 0 1
NF2 0 0 1 0 0 1
NOTCH1 0 0 0 0 1 1
NT5C2 0 1 0 0 0 1
OBSL1 0 0 1 0 0 1
OFD1, TRAPPC2 0 1 0 0 0 1
OTOA 0 1 0 0 0 1
OTOGL 0 0 1 0 0 1
PALB2 1 0 0 0 0 1
PC 0 0 1 0 0 1
PCBD1 0 0 1 0 0 1
PEPD 0 1 0 0 0 1
PEX7 1 0 0 0 0 1
PGAP1 0 0 1 0 0 1
PHGDH 0 0 1 0 0 1
PKLR 0 1 0 0 0 1
PLG 1 0 0 0 0 1
PMM2 1 0 0 0 0 1
PNKP 0 0 1 0 0 1
PNPO 0 1 0 0 0 1
PRDM16 0 0 1 0 0 1
PREPL, SLC3A1 0 1 0 0 0 1
PRF1 0 0 0 1 0 1
PRKAG2 0 0 1 0 0 1
PROC 0 0 1 0 0 1
PROM1 0 1 0 0 0 1
PRSS12 0 0 1 0 0 1
PTEN 1 0 0 0 0 1
PUS1 0 1 0 0 0 1
PYGM 0 1 0 0 0 1
RARS2 0 0 1 0 0 1
RBM10 0 1 0 0 0 1
RBM20 0 0 1 0 0 1
RERE 0 0 1 0 0 1
RIT1 0 0 1 0 0 1
ROGDI 0 0 1 0 0 1
RUNX1 1 0 0 0 0 1
RYR2 0 0 1 0 0 1
SACS 0 1 0 0 0 1
SAG 1 0 0 0 0 1
SBDS 1 0 0 0 0 1
SCN1A 0 0 0 1 0 1
SCN1A, SCN9A 0 0 1 0 0 1
SDHC 0 0 1 0 0 1
SELENON 0 0 1 0 0 1
SETX 0 0 1 0 0 1
SGCA 1 0 0 0 0 1
SGSH, SLC26A11 1 0 0 0 0 1
SLC12A3 0 1 0 0 0 1
SLC12A5 0 0 1 0 0 1
SLC17A5 1 0 0 0 0 1
SLC25A22 0 0 1 0 0 1
SLC26A4 1 0 0 0 0 1
SLC7A7 1 0 0 0 0 1
SMAD3 0 0 1 0 0 1
SMAD4 0 0 1 0 0 1
SNTA1 0 0 1 0 0 1
SOX5 1 0 0 0 0 1
SPAG1 0 1 0 0 0 1
SPG11 1 0 0 0 0 1
SPG7 1 0 0 0 0 1
SRD5A3 0 0 1 0 0 1
STIL 0 0 1 0 0 1
STRC 0 1 0 0 0 1
SUFU 0 0 1 0 0 1
SZT2 0 0 1 0 0 1
TBC1D24 0 0 1 0 0 1
TBCE 1 0 0 0 0 1
TBCEL-TECTA, TECTA 1 0 0 0 0 1
TBX15 0 0 1 0 0 1
TBXAS1 0 0 1 0 0 1
TCTN2 0 0 1 0 0 1
TGFBR1 0 0 1 0 0 1
TGFBR2 0 0 1 0 0 1
TH 0 0 1 0 0 1
TICAM1 0 0 1 0 0 1
TJP2 0 0 1 0 0 1
TK2 1 0 0 0 0 1
TMC1 1 0 0 0 0 1
TMEM127 0 0 1 0 0 1
TMPRSS6 0 1 0 0 0 1
TNFRSF13B 0 1 0 0 0 1
TNNT2 0 0 1 0 0 1
TPP1 1 0 0 0 0 1
TRPS1 1 0 0 0 0 1
TSPEAR 0 0 1 0 0 1
TUBGCP6 0 0 0 1 0 1
TULP1 1 0 0 0 0 1
TXNRD2 0 0 1 0 0 1
TYK2 0 0 0 1 0 1
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 0 1 0 0 0 1
UNC80 0 0 0 1 0 1
USH1G 0 0 1 0 0 1
VARS2 0 0 1 0 0 1
VHL 0 0 1 0 0 1
VPS13B 0 0 1 0 0 1
ZC3H14 0 0 0 0 1 1
ZFYVE26 0 0 1 0 0 1
ZMYND10 1 0 0 0 0 1
ZNF469 0 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 337
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 25 5 15 4 5 54
Hereditary cancer-predisposing syndrome 13 6 0 0 0 19
Autosomal recessive nonsyndromic hearing loss 1A 7 2 0 0 0 9
Colorectal cancer, susceptibility to, 12 0 0 8 0 0 8
Aortic aneurysm, familial thoracic 4 0 0 6 0 0 6
Hypertrophic cardiomyopathy 3 2 1 0 0 6
Cystinuria 1 4 0 0 0 5
Lynch syndrome 1 0 0 5 0 0 5
Malignant hyperthermia, susceptibility to, 1 0 0 5 0 0 5
Malignant hyperthermia, susceptibility to, 5 0 0 5 0 0 5
Phenylketonuria 4 1 0 0 0 5
Glycogen storage disease, type II 3 1 0 0 0 4
Rett syndrome 3 0 1 0 0 4
Alpha-1-antitrypsin deficiency 3 0 0 0 0 3
Aortic aneurysm, familial thoracic 7 0 0 3 0 0 3
Arrhythmogenic right ventricular dysplasia 8 0 0 3 0 0 3
Arrhythmogenic right ventricular dysplasia 9 0 0 3 0 0 3
Delayed speech and language development; Abnormality of eye movement; Generalized hypotonia; Abnormal speech pattern; Delayed gross motor development; Hypotonia 0 0 3 0 0 3
Dilated cardiomyopathy 1G 0 0 3 0 0 3
Familial hypobetalipoproteinemia 1 2 0 1 0 0 3
Fanconi anemia 1 1 1 0 0 3
Hereditary diffuse gastric adenocarcinoma 0 0 3 0 0 3
Hypertrophic cardiomyopathy 4 0 0 3 0 0 3
Hypertrophic cardiomyopathy 9 0 0 3 0 0 3
Joubert syndrome 5 1 2 0 0 0 3
Left ventricular noncompaction 10 0 0 3 0 0 3
Loeys-Dietz syndrome 4 0 0 3 0 0 3
Lynch syndrome 4 0 0 3 0 0 3
Nemaline myopathy 2 0 2 1 0 0 3
Nonsyndromic Deafness 3 0 0 0 0 3
Progressive sclerosing poliodystrophy 0 3 0 0 0 3
Tuberous sclerosis 2 0 0 3 0 0 3
Alpha-N-acetylgalactosaminidase deficiency type 1 0 2 0 0 0 2
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2 0 0 0 0 2
Arrhythmogenic right ventricular dysplasia 2 0 0 2 0 0 2
Autosomal recessive nonsyndromic hearing loss 8 0 2 0 0 0 2
Becker muscular dystrophy 0 0 2 0 0 2
Biotinidase deficiency 2 0 0 0 0 2
Breast-ovarian cancer, familial, susceptibility to, 1 0 0 2 0 0 2
Carnitine palmitoyl transferase II deficiency, severe infantile form 0 0 2 0 0 2
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2 0 0 0 0 2
Colorectal cancer, susceptibility to, 10 0 0 2 0 0 2
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 0 2 0 0 0 2
Congenital malabsorptive diarrhea 4 2 0 0 0 0 2
Developmental and epileptic encephalopathy, 23 0 0 2 0 0 2
Dilated cardiomyopathy 3B 0 0 2 0 0 2
Duchenne muscular dystrophy 0 0 2 0 0 2
Eczematoid dermatitis 2 0 0 0 0 2
Ehlers-Danlos syndrome, type 4 0 0 2 0 0 2
Familial adenomatous polyposis 1 0 0 2 0 0 2
Familial adenomatous polyposis 2 1 1 0 0 0 2
Fanconi anemia complementation group A 1 1 0 0 0 2
Gaucher disease type I 2 0 0 0 0 2
Glycogen storage disease type III 1 0 1 0 0 2
Hearing loss 1 1 0 0 0 2
Hemochromatosis type 1 2 0 0 0 0 2
Hurler syndrome 1 0 1 0 0 2
Hypercholesterolemia, familial, 1 0 0 2 0 0 2
Hyperphosphatasia with intellectual disability syndrome 2 0 1 1 0 0 2
Long QT syndrome 2 0 0 2 0 0 2
Medium-chain acyl-coenzyme A dehydrogenase deficiency 1 0 1 0 0 2
Muscular dystrophy, limb-girdle, autosomal recessive 23 0 0 1 1 0 2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 1 1 0 0 0 2
Primary dilated cardiomyopathy 1 0 1 0 0 2
Recessive dystrophic epidermolysis bullosa 1 1 0 0 0 2
Short QT Syndrome 5 0 0 2 0 0 2
Short QT syndrome type 1 0 0 2 0 0 2
Smith-Lemli-Opitz syndrome 1 0 1 0 0 2
Susceptibility to mononeuropathy of the median nerve, mild 1 1 0 0 0 2
Unverricht-Lundborg syndrome 0 1 1 0 0 2
Vanishing white matter disease 0 1 1 0 0 2
Very long chain acyl-CoA dehydrogenase deficiency 1 1 0 0 0 2
Vici syndrome 0 0 2 0 0 2
Wilson disease 1 1 0 0 0 2
beta Thalassemia 2 0 0 0 0 2
3-methylcrotonyl-CoA carboxylase 2 deficiency 1 0 0 0 0 1
ALG1-congenital disorder of glycosylation 1 0 0 0 0 1
ALG6-congenital disorder of glycosylation 1C 1 0 0 0 0 1
Abnormal cardiovascular system morphology; Failure to thrive; Hearing impairment; Abnormal optic nerve morphology; Hypotonia 0 1 0 0 0 1
Abnormality of the nervous system; Atypical behavior; Abdominal pain; Abnormal peripheral nervous system morphology; Abnormality of the male genitalia; Pain; Peripheral neuropathy 1 0 0 0 0 1
Abnormality of the nervous system; Nystagmus 1 0 0 0 0 1
Acrocephalosyndactyly type I 1 0 0 0 0 1
Acute intermittent porphyria 0 0 1 0 0 1
Aicardi-Goutieres syndrome 1 1 0 0 0 0 1
Alkaptonuria 1 0 0 0 0 1
Alport syndrome 0 0 1 0 0 1
Alstrom syndrome 0 1 0 0 0 1
Amelocerebrohypohidrotic syndrome 0 0 1 0 0 1
Amelogenesis imperfecta type 1F 0 0 0 1 0 1
Amyotrophic lateral sclerosis type 4 0 0 1 0 0 1
Aneurysm-osteoarthritis syndrome 0 0 1 0 0 1
Argininosuccinate lyase deficiency 1 0 0 0 0 1
Aspartylglucosaminuria 0 1 0 0 0 1
Atypical hemolytic-uremic syndrome with I factor anomaly 1 0 0 0 0 1
Autism; Global developmental delay; Feeding difficulties; Delayed speech and language development; Microcephaly; Abnormality of eye movement; Generalized hypotonia; Gastroesophageal reflux; Abnormal speech pattern; Hypotonia 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 2A 1 0 0 0 0 1
Autosomal recessive DOPA responsive dystonia 0 0 1 0 0 1
Autosomal recessive congenital ichthyosis 2 0 1 0 0 0 1
Autosomal recessive congenital ichthyosis 3 1 0 0 0 0 1
Autosomal recessive congenital ichthyosis 4B 0 0 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2D 1 0 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2L 1 0 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2M 1 0 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2Q 0 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 16 0 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 22 0 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 42 0 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 7 1 0 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 84B 0 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 98 0 0 1 0 0 1
Bardet-Biedl syndrome 1 1 0 0 0 0 1
Bardet-Biedl syndrome; Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5 0 1 0 0 0 1
Breast-ovarian cancer, familial, susceptibility to, 2 0 0 1 0 0 1
Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1 1 0 0 0 0 1
Brittle cornea syndrome 1 0 0 1 0 0 1
Carnitine palmitoyl transferase II deficiency, myopathic form 1 0 0 0 0 1
Carnitine palmitoyl transferase II deficiency, neonatal form 1 0 0 0 0 1
Catecholaminergic polymorphic ventricular tachycardia 2 0 0 1 0 0 1
Cerebellar ataxia; Seizure 1 0 0 0 0 1
Cerebroretinal microangiopathy with calcifications and cysts 1 0 0 1 0 0 1
Charcot-Marie-Tooth disease axonal type 2X 1 0 0 0 0 1
Charcot-Marie-Tooth disease type 2B1 0 0 1 0 0 1
Charcot-Marie-Tooth disease type 4B1 1 0 0 0 0 1
Charlevoix-Saguenay spastic ataxia 0 1 0 0 0 1
Cholestanol storage disease 0 1 0 0 0 1
Chondrodysplasia with joint dislocations, gPAPP type 1 0 0 0 0 1
Citrullinemia type I 1 0 0 0 0 1
Classic homocystinuria 0 1 0 0 0 1
Cobalamin C disease 1 0 0 0 0 1
Cockayne syndrome type 2 0 1 0 0 0 1
Coffin-Siris syndrome 1 1 0 0 0 0 1
Cohen syndrome 0 0 1 0 0 1
Combined malonic and methylmalonic acidemia 0 0 0 1 0 1
Combined oxidative phosphorylation defect type 15 1 0 0 0 0 1
Combined oxidative phosphorylation defect type 20 0 0 1 0 0 1
Cone-rod dystrophy 3 0 1 0 0 0 1
Cone-rod dystrophy 3; Severe early-childhood-onset retinal dystrophy 0 1 0 0 0 1
Congenital afibrinogenemia 1 0 0 0 0 1
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome 0 1 0 0 0 1
Costello syndrome 0 1 0 0 0 1
Cystic fibrosis 1 0 0 0 0 1
Deficiency of 3-hydroxyacyl-CoA dehydrogenase 0 1 0 0 0 1
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 1 0 0 0 0 1
Deficiency of butyryl-CoA dehydrogenase 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 18 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 3 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 34 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 59 0 0 1 0 0 1
Dilated cardiomyopathy 1D 0 0 1 0 0 1
Dilated cardiomyopathy 1DD 0 0 1 0 0 1
Dilated cardiomyopathy 1S 0 0 1 0 0 1
Dystonia 23 0 0 0 1 0 1
Ehlers-Danlos syndrome, musculocontractural type 0 0 1 0 0 1
Eichsfeld type congenital muscular dystrophy 0 0 1 0 0 1
Epicanthus; Micrognathia; Tapered finger; Coarse facial features; Abnormal facial shape; Bulbous nose; Depressed nasal bridge; Thick upper lip vermilion; Macrocephaly; Abnormality of the face; Low anterior hairline; Large hands; Joint hypermobility; Left ventricular hypertrophy; Patent ductus arteriosus 1 0 0 0 0 1
Epidermolysis bullosa simplex, Ogna type 0 0 1 0 0 1
Epileptic encephalopathy 0 0 1 0 0 1
FRAXE 1 0 0 0 0 1
Factor V deficiency 0 1 0 0 0 1
Factor VII deficiency 1 0 0 0 0 1
Familial Mediterranean fever 1 0 0 0 0 1
Familial hypokalemia-hypomagnesemia 0 1 0 0 0 1
Farber lipogranulomatosis 0 0 1 0 0 1
Fraser syndrome 2 0 0 1 0 0 1
Fraser syndrome 3 0 0 0 1 0 1
GNE myopathy 1 0 0 0 0 1
Gastrointestinal stromal tumor 0 0 1 0 0 1
Generalized epilepsy with febrile seizures plus, type 7 0 0 1 0 0 1
Ghosal hematodiaphyseal dysplasia 0 0 1 0 0 1
Gilbert syndrome 0 1 0 0 0 1
Global developmental delay; Abnormal skeletal morphology; Cleft palate 0 1 0 0 0 1
Global developmental delay; Abnormality of the nervous system; Atypical behavior; Aggressive behavior; Gait disturbance; Intellectual disability; Impulsivity 0 0 0 1 0 1
Global developmental delay; Clinodactyly of the 5th finger; Abnormal brain morphology 0 1 0 0 0 1
Global developmental delay; Intellectual disability; Cleft palate 0 0 1 0 0 1
Global developmental delay; Micrognathia; Abnormal facial shape; Hypotonia 0 1 0 0 0 1
Glucocorticoid deficiency 5 0 0 1 0 0 1
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 1 0 0 0 0 1
Glycogen storage disease, type V 0 1 0 0 0 1
Glycogen storage disorder due to hepatic glycogen synthase deficiency 0 1 0 0 0 1
Hearing loss, autosomal recessive 1 0 0 0 0 1
Hearing loss, autosomal recessive 94 0 1 0 0 0 1
Heart, malformation of; Abnormal cardiovascular system morphology; Renal insufficiency 0 1 0 0 0 1
Hennekam lymphangiectasia-lymphedema syndrome 2 0 0 1 0 0 1
Hereditary factor VIII deficiency disease 0 1 0 0 0 1
Hereditary factor XI deficiency disease 0 1 0 0 0 1
Hereditary factor XIII deficiency disease 0 0 1 0 0 1
Hereditary mixed polyposis syndrome 0 0 1 0 0 1
Hereditary pheochromocytoma-paraganglioma 0 0 1 0 0 1
Hereditary spastic paraplegia 15 0 0 1 0 0 1
Hereditary spastic paraplegia 26 1 0 0 0 0 1
Hereditary spastic paraplegia 3A 0 0 1 0 0 1
Hereditary spastic paraplegia 45 0 1 0 0 0 1
Hereditary spastic paraplegia 7 1 0 0 0 0 1
Herpes simplex encephalitis, susceptibility to, 4 0 0 1 0 0 1
Hydrolethalus syndrome 1 1 0 0 0 0 1
Hypercalcemia, infantile, 1 0 1 0 0 0 1
Hypercholesterolemia 0 1 0 0 0 1
Hyperimmunoglobulin D with periodic fever 1 0 0 0 0 1
Hypertrophic cardiomyopathy 1 0 0 1 0 0 1
Hypertrophic cardiomyopathy 10 0 0 1 0 0 1
Hypertrophic cardiomyopathy 2 0 0 1 0 0 1
Hypoparathyroidism-retardation-dysmorphism syndrome 1 0 0 0 0 1
Hypotonia 0 0 1 0 0 1
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 0 0 0 1 0 1
Immunodeficiency 35 0 0 0 1 0 1
Immunodeficiency, common variable, 2 0 1 0 0 0 1
Infantile nephronophthisis 0 1 0 0 0 1
Inherited bleeding disorder, platelet-type 1 0 0 0 0 1
Intellectual disability, autosomal dominant 13 0 0 1 0 0 1
Intellectual disability, autosomal recessive 1 0 0 1 0 0 1
Intellectual disability, autosomal recessive 3 0 0 1 0 0 1
Intellectual disability, autosomal recessive 42 0 0 1 0 0 1
Intellectual disability-severe speech delay-mild dysmorphism syndrome 1 0 0 0 0 1
Isovaleryl-CoA dehydrogenase deficiency 0 1 0 0 0 1
Joubert syndrome 24 0 0 1 0 0 1
Joubert syndrome 27 1 0 0 0 0 1
Joubert syndrome 28 1 0 0 0 0 1
Joubert syndrome 32 0 0 1 0 0 1
Junctional epidermolysis bullosa gravis of Herlitz 1 0 0 0 0 1
Junctional epidermolysis bullosa with pyloric atresia 0 1 0 0 0 1
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 0 0 1 0 0 1
KBG syndrome 1 0 0 0 0 1
Lafora disease 1 0 0 0 0 1
Lamb-Shaffer syndrome 1 0 0 0 0 1
Leber congenital amaurosis 15 1 0 0 0 0 1
Leber congenital amaurosis 4 1 0 0 0 0 1
Left ventricular noncompaction 8 0 0 1 0 0 1
Lethal multiple pterygium syndrome 0 1 0 0 0 1
Loeys-Dietz syndrome 0 0 1 0 0 1
Loeys-Dietz syndrome 1 0 0 1 0 0 1
Long QT syndrome 1 0 0 1 0 0 1
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 1 0 0 0 0 1
Low-set ears; Dysphagia; Abnormality of the neck 1 0 0 0 0 1
Low-set ears; Hemangioma; Generalized hypotonia 0 0 1 0 0 1
Lynch syndrome 0 0 1 0 0 1
Lynch syndrome 8 0 0 1 0 0 1
Lysinuric protein intolerance 1 0 0 0 0 1
MYPN-related myopathy 0 0 1 0 0 1
Malignant hyperthermia of anesthesia 0 1 0 0 0 1
Mandibulofacial dysostosis with mental deficiency 1 0 0 0 0 1
Maple syrup urine disease type 2 1 0 0 0 0 1
Marfan syndrome 0 0 1 0 0 1
Meckel syndrome, type 4 1 0 0 0 0 1
Merosin deficient congenital muscular dystrophy 0 1 0 0 0 1
Metachromatic leukodystrophy 1 0 0 0 0 1
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency 1 0 0 0 0 1
Methylmalonic aciduria, cblA type 0 1 0 0 0 1
Microcephaly 7, primary, autosomal recessive 0 0 1 0 0 1
Microcephaly and chorioretinopathy 1 0 0 0 1 0 1
Microcephaly, seizures, and developmental delay 0 0 1 0 0 1
Microcytic anemia 0 1 0 0 0 1
Miller syndrome 0 0 1 0 0 1
Mitochondrial DNA depletion syndrome, myopathic form 1 0 0 0 0 1
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 0 1 0 0 0 1
Motor delay 0 0 1 0 0 1
Mucopolysaccharidosis type 6 0 0 1 0 0 1
Mucopolysaccharidosis, MPS-I-H/S 1 0 0 0 0 1
Mucopolysaccharidosis, MPS-III-A 1 0 0 0 0 1
Myeloperoxidase deficiency 0 1 0 0 0 1
Myopathy, lactic acidosis, and sideroblastic anemia 1 0 1 0 0 0 1
Nephropathic cystinosis 1 0 0 0 0 1
Neu-Laxova syndrome 1 0 0 1 0 0 1
Neurodevelopmental disorder with involuntary movements 1 0 0 0 0 1
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 0 0 1 0 0 1
Neurofibromatosis, type 2 0 0 1 0 0 1
Neuronal ceroid lipofuscinosis 2 1 0 0 0 0 1
Neuronal ceroid lipofuscinosis 8 0 0 1 0 0 1
Niemann-Pick disease, type A 1 0 0 0 0 1
Non-ketotic hyperglycinemia 0 1 0 0 0 1
Noonan syndrome 8 0 0 1 0 0 1
Oguchi disease 1 0 0 0 0 1
Osteogenesis imperfecta type 7 0 1 0 0 0 1
PMM2-congenital disorder of glycosylation 1 0 0 0 0 1
Pancytopenia-developmental delay syndrome 0 1 0 0 0 1
Pelviscapular dysplasia 0 0 1 0 0 1
Pendred syndrome 1 0 0 0 0 1
Peroxisome biogenesis disorder 9B 1 0 0 0 0 1
Peters plus syndrome 1 0 0 0 0 1
Pheochromocytoma, susceptibility to 0 0 1 0 0 1
Pigmented paravenous retinochoroidal atrophy 0 0 1 0 0 1
Plasminogen deficiency, type I 1 0 0 0 0 1
Pontocerebellar hypoplasia type 6 0 0 1 0 0 1
Porokeratosis 3, disseminated superficial actinic type 1 0 0 0 0 1
Primary ciliary dyskinesia 15 1 0 0 0 0 1
Primary ciliary dyskinesia 28 0 1 0 0 0 1
Primary hyperoxaluria, type I 1 0 0 0 0 1
Prolidase deficiency 0 1 0 0 0 1
Protoporphyria, erythropoietic, 1 0 1 0 0 0 1
Pseudocholinesterase deficiency 0 0 1 0 0 1
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency 0 0 1 0 0 1
Pyridoxal phosphate-responsive seizures 0 1 0 0 0 1
Pyruvate carboxylase deficiency 0 0 1 0 0 1
Pyruvate kinase deficiency of red cells 0 1 0 0 0 1
Retinitis pigmentosa 14 1 0 0 0 0 1
Retinitis pigmentosa 25 0 1 0 0 0 1
Retinitis pigmentosa 41 0 1 0 0 0 1
Rhizomelic chondrodysplasia punctata type 1 1 0 0 0 0 1
Sandhoff disease 0 0 1 0 0 1
Seckel syndrome 6 0 0 1 0 0 1
Seckel syndrome 7 0 0 0 1 0 1
Seizure; Abnormality of the nervous system 1 0 0 0 0 1
Seizure; Nystagmus; Dysarthria; Myoclonus; Tremor 0 0 1 0 0 1
Severe early-childhood-onset retinal dystrophy 1 0 0 0 0 1
Short QT Syndrome 4 0 0 1 0 0 1
Short QT syndrome type 2 0 0 1 0 0 1
Short stature; Failure to thrive; Generalized muscle weakness; Delayed speech and language development; Abnormal speech pattern; Abnormality of the immune system; Hypotonia 0 0 0 1 0 1
Short stature; Growth delay 0 0 1 0 0 1
Short stature; Intellectual disability 0 0 1 0 0 1
Short-rib thoracic dysplasia 8 with or without polydactyly 0 0 0 1 0 1
Shwachman syndrome 1 0 0 0 0 1
Sialic acid storage disease, severe infantile type 1 0 0 0 0 1
Spastic ataxia 2 0 0 1 0 0 1
Spinocerebellar ataxia type 38 0 0 0 1 0 1
Spondyloepiphyseal dysplasia tarda 0 1 0 0 0 1
Steinert myotonic dystrophy syndrome 0 0 1 0 0 1
Stickler syndrome type 2 0 1 0 0 0 1
TARP syndrome 0 1 0 0 0 1
Tay-Sachs disease 1 0 0 0 0 1
Telangiectasia, hereditary hemorrhagic, type 1 0 0 1 0 0 1
Temtamy syndrome 0 0 1 0 0 1
Tetralogy of Fallot 0 0 1 0 0 1
Thrombophilia due to activated protein C resistance 1 0 0 0 0 1
Thrombophilia due to protein C deficiency, autosomal recessive 0 0 1 0 0 1
Thyroid dyshormonogenesis 6 1 0 0 0 0 1
Trichorhinophalangeal dysplasia type I 1 0 0 0 0 1
Trichothiodystrophy 1, photosensitive 0 1 0 0 0 1
Tyrosinemia type I 0 0 1 0 0 1
Ullrich congenital muscular dystrophy 1A 0 0 1 0 0 1
Upshaw-Schulman syndrome 0 1 0 0 0 1
Usher syndrome 0 0 1 0 0 1
Usher syndrome type 2A 0 1 0 0 0 1
Usher syndrome type 2C 0 1 0 0 0 1
Vitelliform macular dystrophy 5 1 0 0 0 0 1
Von Hippel-Lindau syndrome 0 0 1 0 0 1
Wiedemann-Steiner syndrome 0 1 0 0 0 1
Xeroderma pigmentosum, group D 0 1 0 0 0 1
Xeroderma pigmentosum, group F 0 0 1 0 0 1

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