ClinVar Miner

Variants from Clinical Genomics Laboratory, Stanford Medicine

Location: United States  Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
110 75 453 4 0 642

Gene and significance breakdown #

Total genes and gene combinations: 367
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
TTN 1 7 8 0 16
ALPK3 0 1 12 0 13
MYBPC3 6 5 2 0 13
RBM20 0 0 10 0 10
ALMS1 0 0 8 1 9
FLNC 0 2 6 0 8
DSP 0 0 7 0 7
MYH7 0 0 7 0 7
RYR2 0 0 7 0 7
FHOD3 0 0 6 0 6
LZTR1 1 0 5 0 6
MYPN 0 0 6 0 6
AGL 0 1 4 0 5
DMD 0 0 5 0 5
LAMA4 0 0 5 0 5
MYH6 0 0 5 0 5
SCN5A 1 0 4 0 5
SLC22A5 0 1 4 0 5
AMPD1 0 0 4 0 4
CACNA1C 0 0 4 0 4
DSC2 0 0 4 0 4
FKRP 1 1 2 0 4
GAA 2 0 2 0 4
JUP 0 0 3 1 4
KCNH2 0 0 4 0 4
KMT2A 2 1 1 0 4
KMT2D 3 1 0 0 4
LDLR 3 0 1 0 4
LMNA 0 0 4 0 4
PKD1 0 1 3 0 4
PKP2 1 0 3 0 4
PPA2 1 0 3 0 4
PRDM16 0 0 4 0 4
SDHA 0 1 3 0 4
TMEM43 0 0 4 0 4
TMEM70 0 0 4 0 4
ABCC9 0 0 3 0 3
ACADVL 1 0 2 0 3
CACNA1H 0 0 3 0 3
CAP2 0 0 3 0 3
CASQ2 0 0 3 0 3
CBL 0 1 2 0 3
CEP104 0 0 3 0 3
DSG2 0 0 3 0 3
FBN1 2 0 1 0 3
FRAS1 0 0 3 0 3
GJB2 3 0 0 0 3
HFE 2 0 1 0 3
JPH2 0 0 3 0 3
LAMB2 0 0 3 0 3
NCAPH2, SCO2 0 1 2 0 3
NEXN 0 0 2 1 3
NPHP4 0 0 3 0 3
NUP155 0 0 3 0 3
PRKAG2 0 0 3 0 3
SCN10A 0 0 3 0 3
TCTN2 0 0 3 0 3
TRIM63 0 0 3 0 3
ABCA3 1 0 1 0 2
ACAD9 0 0 2 0 2
ACTB 1 0 1 0 2
AKAP9 0 0 2 0 2
ANK2 0 0 2 0 2
ANKRD1 0 0 2 0 2
APOB 0 0 2 0 2
ARID1B 2 0 0 0 2
BTD 2 0 0 0 2
CACNA1D 0 0 2 0 2
CDH23 2 0 0 0 2
COL3A1 0 1 1 0 2
COL4A5 1 1 0 0 2
CPT2 0 0 2 0 2
CPT2, LOC129930561 1 0 1 0 2
CTNNA3 0 0 2 0 2
CYP11B2, LOC106799834 0 0 2 0 2
DHCR7 1 0 1 0 2
DYNC2I1 0 0 2 0 2
EYA4 0 0 2 0 2
FAT1 0 0 2 0 2
FKTN 0 0 2 0 2
FPGT-TNNI3K, TNNI3K 0 0 2 0 2
GATA4 0 0 2 0 2
GATA5 0 0 2 0 2
GNB1 1 1 0 0 2
GRIN1 1 0 1 0 2
GRIN2B 1 0 1 0 2
HCN4 0 0 2 0 2
KCNJ2 0 0 2 0 2
LAMA5 0 0 2 0 2
LDB3 0 0 2 0 2
LRP2 0 0 2 0 2
MED12L, P2RY12 0 1 1 0 2
MTOR 0 2 0 0 2
MYLK2 0 0 2 0 2
MYOM1 0 0 2 0 2
NF1 0 0 2 0 2
NFASC 0 2 0 0 2
NHERF1 0 0 2 0 2
PSAT1 0 0 2 0 2
SCN3A 0 0 2 0 2
SGCD 0 0 2 0 2
SLC12A3 0 0 2 0 2
SLC26A4 1 1 0 0 2
SLC6A8 0 0 2 0 2
SMC3 0 1 1 0 2
SOS1 0 0 2 0 2
SOS2 0 0 2 0 2
TBC1D24 2 0 0 0 2
TCOF1 0 1 1 0 2
TRDN 0 0 2 0 2
TRPM4 0 0 2 0 2
TRPM6 0 0 2 0 2
TSC1 0 0 2 0 2
TTR 2 0 0 0 2
USP9X 1 0 1 0 2
ABCC9, KCNJ8 0 0 1 0 1
ACAD9, LOC126806807 0 0 1 0 1
ACSF3 1 0 0 0 1
ACTC1, GJD2-DT 0 0 1 0 1
ACTN2 0 0 1 0 1
ADSL 0 0 1 0 1
AFF2 0 0 1 0 1
AFG2A 1 0 0 0 1
AHDC1 1 0 0 0 1
AHI1 0 0 1 0 1
AKAP9, LOC129998788 0 0 1 0 1
ALDH5A1 1 0 0 0 1
ALG1, EEF2KMT 0 0 1 0 1
ALG8 0 0 1 0 1
ALPK3, LOC111718493 0 0 1 0 1
ANK2, LOC126807137 0 0 1 0 1
ARID1A 0 0 1 0 1
ASXL3 1 0 0 0 1
ATP7B 0 0 1 0 1
ATRX 0 0 1 0 1
BBS4 0 0 1 0 1
BLK 0 0 1 0 1
BPTF 1 0 0 0 1
BRCA2 1 0 0 0 1
BRWD3 0 0 1 0 1
C2CD3 0 0 1 0 1
C2orf49, FHL2 0 0 1 0 1
C7 0 1 0 0 1
CACNA1A 0 1 0 0 1
CALM1 0 0 1 0 1
CCDST, FLG 0 1 0 0 1
CDC73 0 0 1 0 1
CENPF 0 0 1 0 1
CEP120 0 0 1 0 1
CEP164 0 1 0 0 1
CEP290 0 0 1 0 1
CEP85L, PLN 1 0 0 0 1
CHD2 1 0 0 0 1
CHRM2, LOC349160 0 0 1 0 1
CLCN4 0 1 0 0 1
CLDN10 0 0 1 0 1
CNNM2 0 0 1 0 1
CNOT1 0 0 1 0 1
COL4A1 0 0 1 0 1
COL4A3, MFF-DT 0 0 1 0 1
COL4A4 0 0 1 0 1
COMT, TXNRD2 0 0 1 0 1
CREBBP 0 0 1 0 1
CRYAB 0 0 1 0 1
CSNK2A1 1 0 0 0 1
CSPP1 0 1 0 0 1
CTCF 0 0 1 0 1
CTNNB1, LOC126806659 1 0 0 0 1
CTNS 0 0 1 0 1
CTU2 0 0 1 0 1
DDX3X 0 1 0 0 1
DEAF1 0 0 1 0 1
DGKE 0 0 1 0 1
DNAJC19 0 0 1 0 1
DOLK 0 0 1 0 1
DSC2, DSCAS 0 0 1 0 1
DYNC1H1 0 1 0 0 1
DYNC2H1 0 0 1 0 1
DYRK1A 1 0 0 0 1
EARS2 0 1 0 0 1
EDAR, RANBP2 0 1 0 0 1
EFTUD2 0 1 0 0 1
EGF, LOC126807134 0 0 1 0 1
ELAC2 0 0 1 0 1
ENPP1 0 0 1 0 1
EYA1 0 0 1 0 1
FAM20A 0 0 1 0 1
FANCA, LOC112486223 0 0 1 0 1
FANCA, ZNF276 0 0 1 0 1
FAT1, LOC126807254 0 0 1 0 1
FBN2 0 0 1 0 1
FGF3 0 0 1 0 1
FGFR2 0 1 0 0 1
FGFR3 0 0 1 0 1
FHL1 0 0 1 0 1
FLNA 0 0 1 0 1
FLNA, LOC107988032 0 0 1 0 1
GALT 1 0 0 0 1
GATA6 0 0 1 0 1
GH-LCR, SCN4A 0 0 1 0 1
GINS1 0 0 1 0 1
GINS1, LOC130065587 0 0 1 0 1
GLA, RPL36A-HNRNPH2 1 0 0 0 1
GRIA2 0 1 0 0 1
HDAC2 0 0 1 0 1
HEXB 1 0 0 0 1
HOGA1 1 0 0 0 1
HRAS, LRRC56 0 0 1 0 1
IFT122 0 0 1 0 1
IFT140 0 1 0 0 1
IFT54 0 0 1 0 1
IQSEC2 0 0 1 0 1
IRF2BPL, LOC107984638 1 0 0 0 1
KANSL1 1 0 0 0 1
KAT6A 0 1 0 0 1
KATNIP 0 0 1 0 1
KCNA2 0 1 0 0 1
KCNE1 0 0 1 0 1
KCNH1 0 0 1 0 1
KCNJ10 0 0 1 0 1
KCNJ8 0 0 1 0 1
KCNK17 0 0 1 0 1
KCNQ1 1 0 0 0 1
KDM3B 0 0 1 0 1
KDM5B 0 1 0 0 1
KDM6B 1 0 0 0 1
KLF10 0 0 1 0 1
KLF11 0 0 1 0 1
LAMP2 0 0 1 0 1
LEMD2 0 0 1 0 1
LIX1L, LOC126805851, RBM8A 1 0 0 0 1
LOC108281177, SOX2, SOX2-OT 1 0 0 0 1
LOC110121269, SCN5A 0 0 1 0 1
LOC110121288, SCN10A 0 0 1 0 1
LOC114827850, MYL2 0 0 1 0 1
LOC114827851, MYH6 0 0 1 0 1
LOC126806068, RYR2 0 0 1 0 1
LOC126806423, TTN 0 1 0 0 1
LOC126806425, TTN 0 1 0 0 1
LOC126862264, MEFV 0 0 1 0 1
LOC129994569, MIR3936HG, SLC22A5 1 0 0 0 1
LOC129996745, PHIP 1 0 0 0 1
LOC130055588, SOS2 0 0 1 0 1
LOC132090497, PIGN 0 0 1 0 1
LPIN1 0 0 1 0 1
LRBA 0 0 1 0 1
LRBA, MAB21L2 0 0 1 0 1
MAP2K1 1 0 0 0 1
MAPK8IP3 1 0 0 0 1
MAST1 0 0 1 0 1
MBD5 1 0 0 0 1
MECP2 1 0 0 0 1
MED13 0 0 1 0 1
MED13L 1 0 0 0 1
MEF2C 0 1 0 0 1
MEFV 0 0 1 0 1
MMACHC 1 0 0 0 1
MN1 0 0 1 0 1
MTO1 0 0 1 0 1
MYH11 0 0 1 0 1
MYH9 0 0 0 1 1
MYL2 0 0 1 0 1
MYL3 0 0 1 0 1
MYO6 0 1 0 0 1
NBAS 0 1 0 0 1
NEBL 0 0 1 0 1
NKX2-5 0 0 1 0 1
NOG 0 1 0 0 1
NPHP1 0 0 1 0 1
NPHP3, NPHP3-ACAD11 0 0 1 0 1
NPHS1 0 0 1 0 1
NR2F1 1 0 0 0 1
NSD1 1 0 0 0 1
NSD2 1 0 0 0 1
NUP133 0 0 1 0 1
OFD1 0 1 0 0 1
OTC 1 0 0 0 1
PAX6 0 1 0 0 1
PDLIM3 0 0 1 0 1
PDZD7 1 0 0 0 1
PHF6 0 1 0 0 1
PIBF1 0 0 1 0 1
PKHD1 0 0 1 0 1
PLG 0 0 1 0 1
PLN 0 0 1 0 1
POGZ 1 0 0 0 1
PPOX 0 1 0 0 1
PPP1CB 1 0 0 0 1
PPP2R5D 1 0 0 0 1
PRKCSH 0 0 1 0 1
PRODH 0 0 1 0 1
PSAP 0 1 0 0 1
PTCHD1 0 0 1 0 1
PTPN11 0 0 1 0 1
PTPRO 0 0 1 0 1
PUF60 1 0 0 0 1
PURA 1 0 0 0 1
RELN 0 0 1 0 1
RET 1 0 0 0 1
RNASEH2B 1 0 0 0 1
RNU4-1, RNU4-2, SIRT4 1 0 0 0 1
ROBO2 0 0 1 0 1
RORA 0 0 1 0 1
RPL3L 0 0 1 0 1
RPS7 1 0 0 0 1
SAMD9L 0 0 1 0 1
SCARB2 0 0 1 0 1
SCN2A 1 0 0 0 1
SCN2B 0 0 1 0 1
SEC63 0 0 1 0 1
SETD1B 0 0 1 0 1
SETD5 0 1 0 0 1
SFXN4 0 0 1 0 1
SHANK2 0 0 1 0 1
SHOC2 0 0 1 0 1
SHOX2 0 0 1 0 1
SLC25A4 0 1 0 0 1
SLC34A1 0 1 0 0 1
SLC5A1 0 1 0 0 1
SLC5A2 0 0 1 0 1
SLFN14 0 0 1 0 1
SMAD2 0 0 1 0 1
SMARCA4 0 0 1 0 1
SMARCC2 0 0 1 0 1
SMC1A 0 0 1 0 1
SNRPB 1 0 0 0 1
SPG7 1 0 0 0 1
SPTAN1 0 0 1 0 1
SPTBN1 0 1 0 0 1
SRD5A2 0 1 0 0 1
SRRM2 1 0 0 0 1
SSBP1 1 0 0 0 1
STAT3 1 0 0 0 1
TAF1 0 0 1 0 1
TBCK 1 0 0 0 1
TBL1XR1 0 1 0 0 1
TBR1 0 0 1 0 1
TBX19 0 0 1 0 1
TBX20 0 0 1 0 1
TCF12 1 0 0 0 1
TCF4 1 0 0 0 1
TGFB3 0 0 1 0 1
TGFBR2 1 0 0 0 1
THPO 0 1 0 0 1
TNFRSF13B 0 0 1 0 1
TNNC1 0 0 1 0 1
TNNI3 0 0 1 0 1
TNNT2 0 0 1 0 1
TNXB 0 0 1 0 1
TRIO 0 1 0 0 1
TRPS1 1 0 0 0 1
TSC2 0 1 0 0 1
TUBB3 0 0 1 0 1
TXNRD2 0 0 1 0 1
UBE2A 0 1 0 0 1
UBE4A 0 0 1 0 1
UPF3B 1 0 0 0 1
USH2A 0 1 0 0 1
USP7 1 0 0 0 1
VCL 0 0 1 0 1
VPS13B 1 0 0 0 1
WAC 0 0 1 0 1
WASHC4 0 0 1 0 1
WDR45 1 0 0 0 1
WDR73 0 0 1 0 1
XDH 0 0 1 0 1
ZNF462 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 386
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Condition pathogenic likely pathogenic uncertain significance likely benign total
not provided 2 1 41 3 47
Cardiomyopathy, familial hypertrophic 27 0 1 11 0 12
Dilated cardiomyopathy 1G 1 9 2 0 12
Hypertrophic cardiomyopathy 4 6 5 0 0 11
Dilated cardiomyopathy 1DD 0 0 10 0 10
Alstrom syndrome 0 0 8 0 8
Cardiomyopathy, familial hypertrophic, 28 0 0 6 0 6
Renal carnitine transport defect 1 1 4 0 6
Arrhythmogenic right ventricular dysplasia 11 0 0 5 0 5
Brugada syndrome 1; Long QT syndrome 3 0 0 5 0 5
Catecholaminergic polymorphic ventricular tachycardia 1 0 0 5 0 5
Glycogen storage disease type III 0 1 4 0 5
Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 0 0 5 0 5
Arrhythmogenic right ventricular dysplasia 5 0 0 4 0 4
Arrhythmogenic right ventricular dysplasia 8 0 0 4 0 4
Arrhythmogenic right ventricular dysplasia 9 1 0 3 0 4
Focal segmental glomerulosclerosis 0 0 4 0 4
Hypercholesterolemia, familial, 1 3 0 1 0 4
Kabuki syndrome 1 3 1 0 0 4
LZTR1-related schwannomatosis 1 0 3 0 4
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 0 0 4 0 4
Muscle AMP deaminase deficiency 0 0 4 0 4
Polycystic kidney disease, adult type 0 1 3 0 4
Wiedemann-Steiner syndrome 2 1 1 0 4
Acyl-CoA dehydrogenase 9 deficiency 0 0 3 0 3
Autosomal recessive nonsyndromic hearing loss 1A 3 0 0 0 3
CBL-related disorder 0 1 2 0 3
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 0 1 2 0 3
Catecholaminergic polymorphic ventricular tachycardia 1; Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome 0 0 3 0 3
Fraser syndrome 1 0 0 3 0 3
Glycogen storage disease, type II 2 0 1 0 3
Hemochromatosis type 1 2 0 1 0 3
Hyperaldosteronism, familial, type IV 0 0 3 0 3
Hypertrichotic osteochondrodysplasia Cantu type 0 0 3 0 3
Hypertrophic cardiomyopathy 1 0 0 3 0 3
Long QT syndrome 11 0 0 3 0 3
Marfan syndrome 2 0 1 0 3
Muscular dystrophy-dystroglycanopathy type B5; Autosomal recessive limb-girdle muscular dystrophy type 2I; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 1 1 1 0 3
Noonan syndrome 9 0 0 3 0 3
Short QT syndrome type 1; Long QT syndrome 2 0 0 3 0 3
Very long chain acyl-CoA dehydrogenase deficiency 1 0 2 0 3
not specified 0 0 2 1 3
Amyloidosis, hereditary systemic 1 2 0 0 0 2
Andersen Tawil syndrome 0 0 2 0 2
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 0 0 2 0 2
Arrhythmogenic right ventricular dysplasia 10 0 0 2 0 2
Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome 1 1 0 0 2
Baraitser-Winter syndrome 1 1 0 1 0 2
Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B 0 0 2 0 2
Biotinidase deficiency 2 0 0 0 2
Cardiomyopathy 0 0 2 0 2
Cardiomyopathy, dilated, 2I 0 0 2 0 2
Carnitine palmitoyltransferase II deficiency 0 0 2 0 2
Catecholaminergic polymorphic ventricular tachycardia 2 0 0 2 0 2
Catecholaminergic polymorphic ventricular tachycardia 5 0 0 2 0 2
Coffin-Siris syndrome 1 2 0 0 0 2
Combined immunodeficiency due to GINS1 deficiency 0 0 2 0 2
Congenital heart defects, multiple types, 5 0 0 2 0 2
Cornelia de Lange syndrome 3 0 1 1 0 2
Creatine transporter deficiency 0 0 2 0 2
Dilated cardiomyopathy 1A 0 0 2 0 2
Dilated cardiomyopathy 1C; Myofibrillar myopathy 4 0 0 2 0 2
Dilated cardiomyopathy 1CC; Hypertrophic cardiomyopathy 20 0 0 2 0 2
Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14 0 0 2 0 2
Dilated cardiomyopathy 1G; TTN-related myopathy 0 0 2 0 2
Dilated cardiomyopathy 1JJ 0 0 2 0 2
Dilated cardiomyopathy 1KK 0 0 2 0 2
Dilated cardiomyopathy 1KK; MYPN-related myopathy 0 0 2 0 2
Dilated cardiomyopathy 1S 0 0 2 0 2
Donnai-Barrow syndrome 0 0 2 0 2
Ehlers-Danlos syndrome, type 4 0 1 1 0 2
Familial hypokalemia-hypomagnesemia 0 0 2 0 2
Fanconi anemia complementation group A 0 0 2 0 2
Focal and Segmental Glomerulosclerosis, Autosomal recessive 0 0 2 0 2
Heterotopia, periventricular, X-linked dominant 0 0 2 0 2
Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 0 0 2 0 2
Hypertrophic cardiomyopathy 10 0 0 2 0 2
Hypertrophic cardiomyopathy 17; Cardiomyopathy, dilated, 2E 0 0 2 0 2
Hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy 0 0 2 0 2
Hypertrophic cardiomyopathy 26 0 1 1 0 2
Hypertrophic cardiomyopathy 4; Left ventricular noncompaction 10 0 0 2 0 2
Hypoaldosteronism, congenital 0 0 2 0 2
Hypophosphatemic nephrolithiasis/osteoporosis 2 0 0 2 0 2
Intellectual disability, autosomal dominant 42 1 1 0 0 2
Intellectual disability, autosomal dominant 6 1 0 1 0 2
Interstitial lung disease due to ABCA3 deficiency 1 0 1 0 2
Joubert syndrome 0 0 2 0 2
Joubert syndrome 25 0 0 2 0 2
Left ventricular noncompaction 8 0 0 2 0 2
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 0 2 0 0 2
Meckel syndrome, type 8; Joubert syndrome 24 0 0 2 0 2
Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paraganglioma syndrome 5 0 0 2 0 2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 1 0 1 0 2
Naxos disease; Arrhythmogenic right ventricular dysplasia 12 0 0 2 0 2
Nephronophthisis 4; Senior-Loken syndrome 4; Focal segmental glomerulosclerosis 0 0 2 0 2
Neurodevelopmental disorder with central and peripheral motor dysfunction 0 2 0 0 2
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 1 0 1 0 2
Neurofibromatosis, type 1 0 0 2 0 2
Noonan syndrome 2; LZTR1-related schwannomatosis; Noonan syndrome 10 0 0 2 0 2
PSAT deficiency; Neu-Laxova syndrome 2 0 0 2 0 2
Pierson syndrome; focal and segmental glomerulosclerosis 0 0 2 0 2
Short-rib thoracic dysplasia 8 with or without polydactyly 0 0 2 0 2
Sick sinus syndrome 2, autosomal dominant 0 0 2 0 2
Smith-Lemli-Opitz syndrome 1 0 1 0 2
Timothy syndrome; Brugada syndrome 3; Long QT syndrome 8; Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures 0 0 2 0 2
Timothy syndrome; arrhythmogenic disorders 0 0 2 0 2
Treacher Collins syndrome 1 0 1 1 0 2
Tuberous sclerosis 1 0 0 2 0 2
Usher syndrome type 1D 2 0 0 0 2
X-linked Alport syndrome 1 1 0 0 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 0 1 0 0 1
3-methylglutaconic aciduria type 5 0 0 1 0 1
8q24.3 microdeletion syndrome 1 0 0 0 1
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 1 0 0 0 1
ALG1-congenital disorder of glycosylation; Focal segmental glomerulosclerosis 0 0 1 0 1
ALG8 congenital disorder of glycosylation; Polycystic liver disease 3 with or without kidney cysts 0 0 1 0 1
ASXL3-related disorder 1 0 0 0 1
Acrocephalosyndactyly type I; Pfeiffer syndrome; Crouzon syndrome 0 1 0 0 1
Action myoclonus-renal failure syndrome 0 0 1 0 1
Adenylosuccinate lyase deficiency 0 0 1 0 1
Aicardi-Goutieres syndrome 2 1 0 0 0 1
Aldosterone-producing adenoma with seizures and neurological abnormalities 0 0 1 0 1
Amelogenesis imperfecta type 1G 0 0 1 0 1
Aniridia 1 0 1 0 0 1
Anophthalmia/microphthalmia-esophageal atresia syndrome 1 0 0 0 1
Aortic aneurysm, familial thoracic 4; Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 0 0 1 0 1
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8; Lethal acantholytic epidermolysis bullosa; Keratosis palmoplantaris striata 2; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 0 0 1 0 1
Arrhythmogenic right ventricular dysplasia 1 0 0 1 0 1
Arrhythmogenic right ventricular dysplasia 10; Dilated cardiomyopathy 1BB 0 0 1 0 1
Asphyxiating thoracic dystrophy 3 0 0 1 0 1
Ataxia-pancytopenia syndrome 0 0 1 0 1
Atrial fibrillation, familial, 12 0 0 1 0 1
Atrial fibrillation, familial, 15 0 0 1 0 1
Atrial septal defect 2; Tetralogy of Fallot; Ventricular septal defect 1; Atrioventricular septal defect 4 0 0 1 0 1
Atrial septal defect 4 0 0 1 0 1
Autism, susceptibility to, 17 0 0 1 0 1
Autism, susceptibility to, X-linked 4 0 0 1 0 1
Autosomal dominant Alport syndrome; Hematuria, benign familial, 2; Alport syndrome 3b, autosomal recessive 0 0 1 0 1
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 10 0 0 1 0 1
Autosomal dominant nonsyndromic hearing loss 22 0 1 0 0 1
Autosomal recessive Alport syndrome; Focal segmental glomerulosclerosis; Hematuria, benign familial, 1 0 0 1 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2F 0 0 1 0 1
Bardet-Biedl syndrome 4 0 0 1 0 1
Becker muscular dystrophy 0 0 1 0 1
Becker muscular dystrophy; Neuromuscular disease caused by qualitative or quantitative defects of dystrophin; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B 0 0 1 0 1
Borjeson-Forssman-Lehmann syndrome 0 1 0 0 1
Bosch-Boonstra-Schaaf optic atrophy syndrome 1 0 0 0 1
Brachydactyly type B2; Symphalangism-brachydactyly syndrome; Tarsal-carpal coalition syndrome; Stapes ankylosis with broad thumbs and toes; Proximal symphalangism 1A 0 1 0 0 1
Brain small vessel disease 1 with or without ocular anomalies 0 0 1 0 1
Breast-ovarian cancer, familial, susceptibility to, 2 1 0 0 0 1
Brugada syndrome 1 1 0 0 0 1
CACNA1A-associated disorders 0 1 0 0 1
CEBALID syndrome 0 0 1 0 1
CHD2-related neurodevelopmental disorder 1 0 0 0 1
CTCF-related neurodevelopmental disorder 0 0 1 0 1
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 1 0 0 0 1
Cardiac arrhythmia, ankyrin-B-related 0 0 1 0 1
Cardiofaciocutaneous syndrome 3 1 0 0 0 1
Cardiomyopathy, dilated, 2E 0 0 1 0 1
Cardiomyopathy, mitochondrial; sudden cardiac failure 0 0 1 0 1
Carnitine palmitoyl transferase II deficiency, myopathic form 1 0 0 0 1
Carnitine palmitoyl transferase II deficiency, severe infantile form; Carnitine palmitoyl transferase II deficiency, myopathic form; Carnitine palmitoyl transferase II deficiency, neonatal form 0 0 1 0 1
Cataract 46 juvenile-onset 0 0 1 0 1
Catecholaminergic polymorphic ventricular tachycardia 4; Long QT syndrome 14 0 0 1 0 1
Cerebro-costo-mandibular syndrome 1 0 0 0 1
Cobalamin C disease 1 0 0 0 1
Coffin-Siris syndrome 8 0 0 1 0 1
Cohen syndrome 1 0 0 0 1
Colobomatous microphthalmia-rhizomelic dysplasia syndrome 0 0 1 0 1
Combined immunodeficiency due to LRBA deficiency 0 0 1 0 1
Combined malonic and methylmalonic acidemia 1 0 0 0 1
Complement component 7 deficiency 0 1 0 0 1
Complex cortical dysplasia with other brain malformations 1 0 0 1 0 1
Congenital anomaly of kidney and urinary tract 0 0 1 0 1
Congenital contractural arachnodactyly 0 0 1 0 1
Congenital isolated adrenocorticotropic hormone deficiency 0 0 1 0 1
Congenital muscular hypertrophy-cerebral syndrome 0 0 1 0 1
Costello syndrome 0 0 1 0 1
Cranioectodermal dysplasia; Short-rib thoracic dysplasia with or without polydactyly 0 0 1 0 1
Cystinosis 0 0 1 0 1
DK1-congenital disorder of glycosylation 0 0 1 0 1
DYNC1H1-related disorder 0 1 0 0 1
DYRK1A-related intellectual disability syndrome 1 0 0 0 1
Danon disease 0 0 1 0 1
DeSanto-Shinawi syndrome due to WAC point mutation 0 0 1 0 1
Deafness with labyrinthine aplasia, microtia, and microdontia 0 0 1 0 1
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 1 0 0 0 1
Dermatitis, atopic, 2; Ichthyosis vulgaris 0 1 0 0 1
Developmental and epileptic encephalopathy, 32 0 1 0 0 1
Developmental and epileptic encephalopathy, 62 0 0 1 0 1
Diamond-Blackfan anemia 8 1 0 0 0 1
Diets-Jongmans syndrome 0 0 1 0 1
Dilated cardiomyopathy 1A; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Familial partial lipodystrophy, Dunnigan type; Congenital muscular dystrophy due to LMNA mutation; Emery-Dreifuss muscular dystrophy 3, autosomal recessive 0 0 1 0 1
Dilated cardiomyopathy 1FF; Hypertrophic cardiomyopathy 7 0 0 1 0 1
Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Autosomal dominant centronuclear myopathy; Early-onset myopathy with fatal cardiomyopathy 0 0 1 0 1
Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy 0 0 1 0 1
Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Myopathy 0 0 1 0 1
Dilated cardiomyopathy 1J; Autosomal dominant nonsyndromic hearing loss 10 0 0 1 0 1
Dilated cardiomyopathy 1L; Autosomal recessive limb-girdle muscular dystrophy type 2F 0 0 1 0 1
Dilated cardiomyopathy 1P 0 0 1 0 1
Dilated cardiomyopathy 1W; Hypertrophic cardiomyopathy 15 0 0 1 0 1
Dilated cardiomyopathy 1Z; Hypertrophic cardiomyopathy 13 0 0 1 0 1
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome; Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2B1; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Heart-hand syndrome, Slovenian type; Hutchinson-Gilford syndrome; Familial partial lipodystrophy, Dunnigan type; Congenital muscular dystrophy due to LMNA mutation; Emery-Dreifuss muscular dystrophy 3, autosomal recessive; Mandibuloacral dysplasia; Laminopathy; Restrictive dermopathy 2 0 0 1 0 1
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome; Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2B1; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Heart-hand syndrome, Slovenian type; Hutchinson-Gilford syndrome; Familial partial lipodystrophy, Dunnigan type; Mandibuloacral dysplasia with type A lipodystrophy; Congenital muscular dystrophy due to LMNA mutation; Emery-Dreifuss muscular dystrophy 3, autosomal recessive; Laminopathy; Restrictive dermopathy 2 0 0 1 0 1
EAST syndrome 0 0 1 0 1
EDAR-related disorder 0 1 0 0 1
Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8 0 0 1 0 1
Epilepsy, familial focal, with variable foci 4 0 0 1 0 1
Episodic pain syndrome, familial, 2 0 0 1 0 1
FKRP-related muscular dystrophy-dystroglycanopathy 1 0 0 0 1
FLNC-associated cardiomyopathy 0 1 0 0 1
FRAXE 0 0 1 0 1
Fabry disease 1 0 0 0 1
Familial Mediterranean fever 0 0 1 0 1
Familial Mediterranean fever; Familial Mediterranean fever, autosomal dominant 0 0 1 0 1
Familial renal glucosuria 0 0 1 0 1
Familial temporal lobe epilepsy 7 0 0 1 0 1
Fibromatosis, gingival, 1 0 0 1 0 1
Finnish congenital nephrotic syndrome; Focal segmental glomerulosclerosis 0 0 1 0 1
Galloway-Mowat syndrome 1 0 0 1 0 1
Galloway-Mowat syndrome; focal and segmental glomerulosclerosis 0 0 1 0 1
Glucocorticoid deficiency 5 0 0 1 0 1
Glycogen storage disease, type II; Glycogen storage disease due to acid maltase deficiency, late-onset 0 0 1 0 1
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome 0 0 1 0 1
HELIX syndrome 0 0 1 0 1
Hao-Fountain syndrome 1 0 0 0 1
Hearing loss, autosomal recessive 57 1 0 0 0 1
Hereditary spastic paraplegia 7 1 0 0 0 1
Hereditary xanthinuria type 1 0 0 1 0 1
Houge-Janssens syndrome 1 1 0 0 0 1
Hyperkalemic periodic paralysis 0 0 1 0 1
Hyperparathyroidism 1 0 0 1 0 1
Hypertrichotic osteochondrodysplasia Cantu type; Atrial fibrillation, familial, 12; Intellectual disability and myopathy syndrome 0 0 1 0 1
Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 0 0 1 0 1
Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1S 0 0 1 0 1
Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D 0 0 1 0 1
Hypertrophic cardiomyopathy 6 0 0 1 0 1
Hypertrophic cardiomyopathy 8 0 0 1 0 1
Hypertrophic cardiomyopathy 9 0 0 1 0 1
Hypomagnesemia 0 0 1 0 1
Hypophosphatemic nephrolithiasis/osteoporosis 1 0 1 0 0 1
Hypophosphatemic rickets 0 0 1 0 1
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 1 0 0 0 1
Immunodeficiency, common variable, 2 0 0 1 0 1
Intellectual developmental disorder 61 0 0 1 0 1
Intellectual developmental disorder, autosomal dominant 72 1 0 0 0 1
Intellectual disability, X-linked 1 0 0 1 0 1
Intellectual disability, X-linked 102 0 1 0 0 1
Intellectual disability, X-linked 49 0 1 0 0 1
Intellectual disability, X-linked 93 0 0 1 0 1
Intellectual disability, X-linked 99 0 0 1 0 1
Intellectual disability, X-linked 99, syndromic, female-restricted 1 0 0 0 1
Intellectual disability, X-linked, syndromic 33 0 0 1 0 1
Intellectual disability, autosomal dominant 1 1 0 0 0 1
Intellectual disability, autosomal dominant 14 0 0 1 0 1
Intellectual disability, autosomal dominant 16 0 0 1 0 1
Intellectual disability, autosomal dominant 24 0 0 1 0 1
Intellectual disability, autosomal recessive 43 0 0 1 0 1
Intellectual disability, autosomal recessive 65 0 1 0 0 1
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 0 1 0 0 1
Intellectual disability-hypotonic facies syndrome, X-linked, 1 0 0 1 0 1
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 1 0 0 0 1
Intestinal hypomagnesemia 1 0 0 1 0 1
Jervell and Lange-Nielsen syndrome 2 0 0 1 0 1
Joubert syndrome 10 0 1 0 0 1
Joubert syndrome 24 0 0 1 0 1
Joubert syndrome 26 0 0 1 0 1
Joubert syndrome 33 0 0 1 0 1
Joubert syndrome with renal defect; Nephronophthisis 1; Senior-Loken syndrome 1 0 0 1 0 1
Joubert syndrome; Meckel-Gruber syndrome 0 1 0 0 1
Joubert syndrome; Meckel-Gruber syndrome; Renal-hepatic-pancreatic dysplasia 1; Renal dysplasia and retinal aplasia; Nephronophthisis 0 0 1 0 1
Joubert syndrome; Nephronophthisis 0 0 1 0 1
Joubert syndrome; Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome; Renal dysplasia and retinal aplasia 0 0 1 0 1
KDM6B-related neurodevelopmental disorder 1 0 0 0 1
Koolen-de Vries syndrome 1 0 0 0 1
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome 0 1 0 0 1
Loeys-Dietz syndrome 2 1 0 0 0 1
Long QT syndrome 1; Jervell and Lange-Nielsen syndrome 1 1 0 0 0 1
MED12L-associated neurodevelopmental disorder 0 1 0 0 1
MYH7-related cardiomyopathy 0 0 1 0 1
MYPN-related myopathy 0 0 1 0 1
Mandibulofacial dysostosis-microcephaly syndrome 0 1 0 0 1
Maturity-onset diabetes of the young type 11 0 0 1 0 1
Maturity-onset diabetes of the young type 7 0 0 1 0 1
Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 0 0 1 0 1
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 0 0 1 0 1
Melnick-Fraser syndrome; Serpentine fibula with polycystic kidney disease; common Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) 0 0 1 0 1
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome 1 0 0 0 1
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 0 1 0 0 1
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive 0 1 0 0 1
Mitochondrial complex II deficiency, nuclear type 1 0 0 1 0 1
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 0 0 1 0 1
Muenke syndrome 0 0 1 0 1
Multiple congenital anomalies-hypotonia-seizures syndrome 1 0 0 1 0 1
Multiple endocrine neoplasia type 2A 1 0 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 0 0 1 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4; Autosomal recessive limb-girdle muscular dystrophy type 2M; Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 0 0 1 0 1
Myofibrillar myopathy 2; Cataract 16 multiple types; Fatal infantile hypertonic myofibrillar myopathy; Dilated cardiomyopathy 1II 0 0 1 0 1
Myoglobinuria, acute recurrent, autosomal recessive 0 0 1 0 1
NSD2-associated disorder; atypical Wolf-Hirschhorn syndrome 1 0 0 0 1
Naxos disease; non-syndromic arrhythmogenic right ventricular cardiomyopathy 0 0 1 0 1
Nephrotic syndrome, IIa 26 0 0 1 0 1
Neurodegeneration with brain iron accumulation 5 1 0 0 0 1
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 1 0 0 0 1
Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language 1 0 0 0 1
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language 0 1 0 0 1
Neurodevelopmental disorder with language impairment and behavioral abnormalities 0 1 0 0 1
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 1 0 0 0 1
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 1 0 0 0 1
Neuromuscular disease caused by qualitative or quantitative defects of dystrophin 0 0 1 0 1
Nizon-Isidor syndrome 0 0 1 0 1
Noonan syndrome 1; LEOPARD syndrome 1 0 0 1 0 1
Noonan syndrome 4 0 0 1 0 1
Noonan syndrome-like disorder with loose anagen hair 1 0 0 1 0 1
Noonan syndrome-like disorder with loose anagen hair 2 1 0 0 0 1
Okur-Chung neurodevelopmental syndrome 1 0 0 0 1
Optic atrophy 13 with retinal and foveal abnormalities 1 0 0 0 1
Ornithine carbamoyltransferase deficiency 1 0 0 0 1
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 1 0 0 0 1
PLN-related cardiomyopathy 1 0 0 0 1
PRKAG2 cardiac syndrome 0 0 1 0 1
PRKAG2-related cardiomyopathy 0 0 1 0 1
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 1 0 0 0 1
Pierson syndrome; Focal segmental glomerulosclerosis 0 0 1 0 1
Pitt-Hopkins syndrome 1 0 0 0 1
Plasminogen deficiency, type I 0 0 1 0 1
Platelet-type bleeding disorder 20 0 0 1 0 1
Polycystic kidney disease 0 1 0 0 1
Polycystic kidney disease 4 0 0 1 0 1
Polycystic liver disease 1 0 0 1 0 1
Polycystic liver disease 2 0 0 1 0 1
Primary dilated cardiomyopathy 0 0 1 0 1
Primary familial hypertrophic cardiomyopathy 0 0 1 0 1
Primary hyperoxaluria type 3 1 0 0 0 1
Progressive familial heart block type IB 0 0 1 0 1
Progressive familial heart block type IB; Erythrokeratodermia variabilis et progressiva 6 0 0 1 0 1
Proline dehydrogenase deficiency 0 0 1 0 1
Prostate cancer, hereditary, 2 0 0 1 0 1
RORA-associated neurodevelopmental disorder 0 0 1 0 1
Radial aplasia-thrombocytopenia syndrome 1 0 0 0 1
Renal dysplasia and retinal aplasia; Nephronophthisis 15 0 1 0 0 1
Renal dysplasia and retinal aplasia; Nephronophthisis; focal and segmental glomerulosclerosis 0 0 1 0 1
Renal glycosuria 0 1 0 0 1
Renal hypomagnesemia 4 0 0 1 0 1
Renal hypomagnesemia 6 0 0 1 0 1
Rett syndrome 1 0 0 0 1
Rubinstein-Taybi syndrome due to CREBBP mutations 0 0 1 0 1
SCN2A-associated neurodevelopmental disorders 1 0 0 0 1
SDHA-related disorder 0 1 0 0 1
SETD1B-Related Neurodevelopmental Disorder 0 0 1 0 1
SMAD2-congenital heart disease and multiple congenital anomaly disorder 0 0 1 0 1
SPTAN1-related disorder 0 0 1 0 1
SPTBN1-related neurodevelopmental disease 0 1 0 0 1
STAT3-related early-onset multisystem autoimmune disease 1 0 0 0 1
Sandhoff disease 1 0 0 0 1
Senior-Loken syndrome 9 0 0 1 0 1
Severe intellectual disability-progressive spastic diplegia syndrome 1 0 0 0 1
Short QT syndrome type 1 0 0 1 0 1
Short stature-optic atrophy-Pelger-Huët anomaly syndrome; Infantile liver failure syndrome 2 0 1 0 0 1
Short-rib thoracic dysplasia 13 with or without polydactyly; Joubert syndrome 31 0 0 1 0 1
Sotos syndrome 1 0 0 0 1
Stromme syndrome 0 0 1 0 1
Succinate-semialdehyde dehydrogenase deficiency 1 0 0 0 1
Sudden cardiac failure, alcohol-induced 0 0 1 0 1
Sudden cardiac failure, infantile 1 0 0 0 1
Syndromic X-linked intellectual disability 14 1 0 0 0 1
Syndromic X-linked intellectual disability Nascimento type 0 1 0 0 1
TBL1XR1-related neurodevelopmental disorder 0 1 0 0 1
TBR1-related neurodevelopmental disorder 0 0 1 0 1
TCF12-related craniosynostosis 1 0 0 0 1
Thrombocythemia 1 0 1 0 0 1
Timothy syndrome; QT prolongation and arrhythmias in the absence of other syndromic features; arrhythmogenic disorders; short QT interval with or without a Brugada syndrome ECG pattern 0 0 1 0 1
Trichorhinophalangeal dysplasia type I 1 0 0 0 1
Tuberous sclerosis 2 0 1 0 0 1
Usher syndrome type 2A 0 1 0 0 1
Variegate porphyria 0 1 0 0 1
Vesicoureteral reflux 2 0 0 1 0 1
Vissers-Bodmer syndrome 0 0 1 0 1
Weiss-Kruszka syndrome 1 0 0 0 1
Wilson disease 0 0 1 0 1
X-linked cardiomyopathies; X-linked myopathies 0 0 1 0 1
Zimmermann-Laband syndrome 1; Temple-Baraitser syndrome 0 0 1 0 1
autosomal dominant dilated cardiomyopathy; autosomal dominant myopathies; autosomal recessive myopathies 0 0 1 0 1
mitochondrial cardiomyopathy and sudden cardiac failure 0 0 1 0 1
pediatric-onset cardiomyopathy 0 0 1 0 1

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