ClinVar Miner

Variants from Human Genetics Bochum, Ruhr University Bochum

Location: Germany  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
134 241 132 1 0 507

Gene and significance breakdown #

Total genes and gene combinations: 299
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
TTN 2 11 1 0 14
BRCA2 9 2 2 0 13
MLH1 7 4 0 0 11
MSH2 8 2 1 0 11
MYH7 2 7 2 0 11
BRCA1 8 1 1 0 10
MSH6 3 5 1 0 9
FLNC 1 3 4 0 8
NF1 4 4 0 0 8
FBN1 2 4 1 0 7
MUTYH 3 1 1 0 5
MYBPC3 3 2 0 0 5
MYO15A 1 4 0 0 5
PKD1 0 4 1 0 5
RYR1 0 4 1 0 5
APC 1 3 0 0 4
MYO7A 0 1 3 0 4
OTOG 0 4 0 0 4
PMS2 3 0 1 0 4
SPAST 3 1 0 0 4
SYNE2 0 3 1 0 4
TARDBP 1 2 1 0 4
ARID1B 0 2 1 0 3
ATM, C11orf65 2 1 0 0 3
CHD7 0 2 1 0 3
CHEK2 2 1 0 0 3
GJB1 1 1 1 0 3
KIF5A 2 0 1 0 3
LRSAM1 0 3 0 0 3
MYO6 0 2 1 0 3
OPTN 2 2 0 0 3
PRKN 0 3 0 0 3
PTPRQ 1 2 0 0 3
SOD1 3 0 0 0 3
TPM1 1 2 0 0 3
WASHC5 0 1 2 0 3
ACTG1 0 2 0 0 2
ACTN2 0 0 2 0 2
ADAMTSL4 0 2 0 0 2
ADGRV1 0 1 1 0 2
ATRX 0 0 2 0 2
CACNA1D 0 1 1 0 2
CFTR 2 0 0 0 2
CHD3 0 1 1 0 2
CLCN1 2 0 0 0 2
COL1A1 1 1 0 0 2
COL4A2 0 2 0 0 2
COL5A1 1 1 0 0 2
ERBB4 0 0 2 0 2
ETFDH 0 0 2 0 2
GARS1 0 0 2 0 2
GCOM1, MYZAP 0 2 0 0 2
GNAS 1 1 0 0 2
ITPR3 0 1 1 0 2
JMJD8, STUB1 0 0 2 0 2
KCNH2 1 0 1 0 2
KCNQ4 0 1 1 0 2
LAMA2 0 0 2 0 2
LMNA 1 0 1 0 2
LOXHD1 0 2 0 0 2
LZTR1 1 0 1 0 2
MED13L 0 1 1 0 2
MME 0 1 1 0 2
MORC2 0 2 0 0 2
MPZ 0 2 0 0 2
MYOT, PKD2L2-DT 0 1 1 0 2
NAA15 2 0 0 0 2
NEK1 0 2 0 0 2
NEU1 1 1 0 0 2
NOTCH3 1 1 0 0 2
PALB2 1 1 0 0 2
PKHD1 0 2 0 0 2
PKP2 0 1 1 0 2
PNPT1 0 1 1 0 2
PTCH1 2 0 0 0 2
RAC3 0 1 1 0 2
RAD51D, RAD51L3-RFFL 1 1 0 0 2
SCN1A 1 1 0 0 2
SCN1A, SCN9A 0 0 2 0 2
SCN5A 1 1 0 0 2
SHANK3 1 1 0 0 2
TBCEL-TECTA, TECTA 0 1 1 0 2
TNNT2 0 1 1 0 2
AAGAB, LOC130057363 1 0 0 0 1
AARS1 0 0 1 0 1
ABCA7 0 0 1 0 1
ABCD1, PLXNB3 1 0 0 0 1
ACTA1 0 1 0 0 1
ACTC1, GJD2-DT 0 1 0 0 1
ADGRL1 0 1 0 0 1
AEBP1 0 1 0 0 1
AKAP9 0 1 0 0 1
ALDH4A1 0 0 1 0 1
ALDH4A1, LOC120893116 0 0 1 0 1
ALPK3 1 0 0 0 1
ALPL 1 0 0 0 1
AMELX, ARHGAP6 0 1 0 0 1
ANG, EGILA, RNASE4 0 0 1 0 1
ANO5 0 0 1 0 1
ARHGEF10 0 0 1 0 1
ASH1L 1 0 0 0 1
ATL3, LNCROPM 0 0 1 0 1
ATM 0 1 0 0 1
ATP2B2 0 1 0 0 1
ATP6V1B1 1 0 0 0 1
BMPR1A 0 1 0 0 1
BRCA1, LOC126862571 1 0 0 0 1
CACNA1A, LOC130063717 0 0 1 0 1
CACNA1E 0 1 0 0 1
CACNB2 0 0 1 0 1
CAPN1 0 0 1 0 1
CARD8 0 1 0 0 1
CASK 0 0 1 0 1
CASQ1 0 0 1 0 1
CAV3, OXTR 0 0 1 0 1
CBS 0 0 1 0 1
CCDC50 0 0 1 0 1
CDH1 0 0 1 0 1
CDH23 0 1 0 0 1
CDK10 1 0 0 0 1
CEP152 0 1 0 0 1
CEP85L 0 1 0 0 1
CERT1 0 1 0 0 1
CHCHD10 1 0 0 0 1
CHD4 0 1 0 0 1
CIB2 0 0 1 0 1
CIC 0 1 0 0 1
CLTC 0 1 0 0 1
CNOT3 0 0 1 0 1
COL4A4 0 1 0 0 1
COL6A2 0 1 0 0 1
CPT1C 0 1 0 0 1
CREBBP 0 1 0 0 1
CRYAB 0 1 0 0 1
CRYGD, LOC100507443 0 1 0 0 1
CTNNB1 0 1 0 0 1
CUX1 0 1 0 0 1
DDX41 0 1 0 0 1
DES 1 0 0 0 1
DMD 0 1 0 0 1
DSG2 0 0 1 0 1
DSG2, LOC130062340 1 0 0 0 1
DSP 0 0 1 0 1
DYRK1A 1 0 0 0 1
EDNRB 0 1 0 0 1
EMD 1 0 0 0 1
EPS8L2 0 1 0 0 1
FBN2, LOC126807501 0 0 1 0 1
FBXO11 1 0 0 0 1
FGFR2 0 1 0 0 1
FH 0 1 0 0 1
FHL1 0 1 0 0 1
FIG4 0 1 0 0 1
FKTN 0 1 0 0 1
FPGT-TNNI3K, TNNI3K 0 0 1 0 1
GABRB2 1 0 0 0 1
GANAB 0 0 1 0 1
GATAD2B 0 1 0 0 1
GBA1, LOC106627981 1 0 0 0 1
GFAP 1 0 0 0 1
GJB2 0 1 0 0 1
GMPPB 0 0 1 0 1
GNAL 0 0 1 0 1
GRN 1 0 0 0 1
H1-4 0 1 0 0 1
HADHB 1 0 0 0 1
HBB, LOC106099062, LOC107133510 0 0 1 0 1
HES7, LOC130060203 0 0 1 0 1
HEXB 0 1 0 0 1
HK1 0 1 0 0 1
HMGA2 0 1 0 0 1
HNRNPH2, RPL36A-HNRNPH2 0 1 0 0 1
HOXD10 0 0 1 0 1
HTT 0 0 1 0 1
IFIH1 0 1 0 0 1
IL1RAPL1 0 0 1 0 1
IQSEC2 0 0 1 0 1
IRF2BPL 0 1 0 0 1
KAT6B 0 1 0 0 1
KCNA2 0 1 0 0 1
KCNQ2 1 0 0 0 1
KDM5C 0 1 0 0 1
KDM6B, LOC121587574 0 1 0 0 1
KIF1A 0 1 0 0 1
KIF1A, LOC126806583 0 1 0 0 1
KMT2C 0 0 1 0 1
KMT2E 0 1 0 0 1
KMT5B 0 0 1 0 1
LDB3 0 1 0 0 1
LITAF 0 0 1 0 1
LMX1B 0 1 0 0 1
LOC107652445, SHOX 0 1 0 0 1
LOC124629354, PRPH, TROAP 0 0 1 0 1
LOC126806422, TTN 0 1 0 0 1
LOC126859827, TAB2 0 1 0 0 1
LOC126862264, MEFV 1 0 0 0 1
LOC126862500, MYH2, MYHAS 0 0 1 0 1
LOC126863256, WDR45 1 0 0 0 1
LOC129995966, SOX4 0 0 1 0 1
LOC130004614, SUFU 1 0 0 0 1
MECP2 1 0 0 0 1
MED12 0 0 1 0 1
MED13 0 0 1 0 1
MEF2A 1 0 0 0 1
MEIS2 0 1 0 0 1
MFN2 0 1 0 0 1
MIB1 0 1 0 0 1
MICAL1 0 1 0 0 1
MLH3 0 0 0 1 1
MSL3 0 0 1 0 1
MYH9 0 0 1 0 1
MYLK 0 0 1 0 1
NAGLU 0 1 0 0 1
NARS1 0 1 0 0 1
NDP 0 1 0 0 1
NDST1 0 1 0 0 1
NEFH 0 0 1 0 1
NEXN 0 1 0 0 1
NOD2 0 1 0 0 1
NOTCH1 1 0 0 0 1
NPC1 0 1 0 0 1
NPRL2 0 0 1 0 1
NSD1 0 1 0 0 1
NTHL1, TSC2 1 0 0 0 1
OTOA 0 1 0 0 1
P2RX2 0 0 1 0 1
PAK1 0 1 0 0 1
PAPSS2 1 0 0 0 1
PCDH15 1 0 0 0 1
PCDH19 0 0 1 0 1
PCSK9 0 0 1 0 1
PCYT2 0 1 0 0 1
PDYN 0 1 0 0 1
PHF21A 1 0 0 0 1
PHF6 0 1 0 0 1
PHIP 0 1 0 0 1
PINK1 0 1 0 0 1
PLIN4 0 1 0 0 1
POLG 0 0 1 0 1
POLR1A 0 1 0 0 1
POLR3B 1 0 0 0 1
POU3F3 0 0 1 0 1
PPOX 0 1 0 0 1
PPP1R12A 0 1 0 0 1
PROS1 0 1 0 0 1
PSEN2 0 0 1 0 1
PTEN 0 1 0 0 1
RAD51C 0 1 0 0 1
REEP1 0 1 0 0 1
RLIM 0 0 1 0 1
RNF213 0 1 0 0 1
RPS6KA3 0 0 1 0 1
RYR2 0 0 1 0 1
SAMD9L 0 0 1 0 1
SAMHD1 0 1 0 0 1
SCAPER 0 1 0 0 1
SCN3A 0 0 1 0 1
SERPINI1 0 0 1 0 1
SETD1A 0 0 1 0 1
SHANK2 0 1 0 0 1
SKI 0 1 0 0 1
SLC10A1 0 1 0 0 1
SLC12A3 1 0 0 0 1
SLC12A5 0 1 0 0 1
SLC6A8 0 1 0 0 1
SMAD4 1 0 0 0 1
SPG7 1 0 0 0 1
SPTLC1 0 0 1 0 1
SQSTM1 0 1 0 0 1
SRCAP 0 0 1 0 1
STK11 0 1 0 0 1
STRC 0 0 1 0 1
STUB1 0 1 0 0 1
SYNGAP1 0 0 1 0 1
TBK1 0 1 0 0 1
TBX20 0 1 0 0 1
TCF4 0 1 0 0 1
TCOF1 0 1 0 0 1
TGFB3 0 0 1 0 1
TMEM43 0 1 0 0 1
TMEM65 0 0 1 0 1
TMIE 0 1 0 0 1
TOP3A 0 0 1 0 1
TP53 0 0 1 0 1
TPRN 1 0 0 0 1
TRAF7 0 0 1 0 1
TRPV4 0 0 1 0 1
TTPA 0 1 0 0 1
TUBA4A 0 0 1 0 1
TUBB4A 0 1 0 0 1
UBQLN2 1 0 0 0 1
UPF3B 0 1 0 0 1
USH2A 0 1 0 0 1
WDR26 0 0 1 0 1
WFS1 0 1 0 0 1
XDH 0 0 1 0 1
ZBTB7A 0 1 0 0 1
ZFYVE26 1 0 0 0 1
ZNF292 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 295
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Condition pathogenic likely pathogenic uncertain significance likely benign total
See cases 2 13 9 0 24
Global developmental delay 1 11 5 0 17
Lynch syndrome 1 9 5 2 1 17
Amyotrophic lateral sclerosis type 10 3 3 6 0 12
Breast-ovarian cancer, familial, susceptibility to, 1 7 1 1 0 9
Dilated cardiomyopathy 1G 2 6 1 0 9
Breast-ovarian cancer, familial, susceptibility to, 2 4 2 2 0 8
Colorectal cancer, hereditary nonpolyposis, type 2 6 2 0 0 8
Lynch syndrome 5 3 4 0 0 7
Neurofibromatosis, type 1 3 4 0 0 7
Marfan syndrome 2 3 1 0 6
not provided 4 1 1 0 6
Autosomal recessive nonsyndromic hearing loss 3 1 4 0 0 5
Colorectal cancer 4 1 0 0 5
Familial adenomatous polyposis 1 1 4 0 0 5
Familial adenomatous polyposis 2 3 1 1 0 5
Hypertrophic cardiomyopathy 1 1 3 1 0 5
Autosomal recessive nonsyndromic hearing loss 18B 0 4 0 0 4
Dilated cardiomyopathy 1S 1 3 0 0 4
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 0 3 1 0 4
Hereditary spastic paraplegia 4 3 1 0 0 4
Hypertrophic cardiomyopathy 26 1 1 2 0 4
Lynch syndrome 4 3 0 1 0 4
Myopathy 0 1 3 0 4
Amyotrophic lateral sclerosis type 12 2 1 0 0 3
Autosomal dominant nonsyndromic hearing loss 11 0 0 3 0 3
Autosomal recessive juvenile Parkinson disease 2 0 3 0 0 3
Charcot-Marie-Tooth disease X-linked dominant 1 1 1 1 0 3
Dilated cardiomyopathy 1G; Hypertrophic cardiomyopathy 9 0 3 0 0 3
Familial cancer of breast 3 0 0 0 3
Hereditary spastic paraplegia 8 0 1 2 0 3
Hypertrophic cardiomyopathy 4 1 2 0 0 3
Polycystic kidney disease, adult type 0 2 1 0 3
Spinocerebellar ataxia 48 0 1 2 0 3
Aldosterone-producing adenoma with seizures and neurological abnormalities 0 1 1 0 2
Alpha thalassemia-X-linked intellectual disability syndrome; Intellectual disability-hypotonic facies syndrome, X-linked, 1 0 0 2 0 2
Amyotrophic lateral sclerosis 0 1 1 0 2
Amyotrophic lateral sclerosis, susceptibility to, 24 0 2 0 0 2
Arrhythmogenic right ventricular dysplasia 10 1 0 1 0 2
Arrhythmogenic right ventricular dysplasia 9 0 1 1 0 2
Autosomal dominant nonsyndromic hearing loss 2A 0 1 1 0 2
Autosomal dominant polycystic kidney disease 0 2 0 0 2
Autosomal recessive nonsyndromic hearing loss 77 0 2 0 0 2
Autosomal recessive nonsyndromic hearing loss 84A 1 1 0 0 2
Brain small vessel disease 2A, autosomal dominant 0 2 0 0 2
CHARGE syndrome 0 2 0 0 2
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 0 1 1 0 2
Cardiomyopathy 0 2 0 0 2
Cardiomyopathy, dilated, 2K 0 2 0 0 2
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 1 1 0 0 2
Charcot-Marie-Tooth disease type 2D 0 0 2 0 2
Charcot-Marie-Tooth disease, demyelinating, type 1J 0 1 1 0 2
Coffin-Siris syndrome 1 0 1 1 0 2
Congenital multicore myopathy with external ophthalmoplegia 0 2 0 0 2
Congenital myotonia, autosomal recessive form 2 0 0 0 2
Dilated cardiomyopathy 1A 1 0 1 0 2
Ehlers-Danlos syndrome, classic type, 1 1 1 0 0 2
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 2 0 0 0 2
Hereditary spastic paraplegia 10 1 0 1 0 2
Holoprosencephaly 7 2 0 0 0 2
Hyperprolinemia type 2 0 0 2 0 2
Hypertrophic cardiomyopathy 3; Dilated cardiomyopathy 1Y 1 1 0 0 2
LZTR1-related schwannomatosis 0 2 0 0 2
Long QT syndrome 2 1 0 1 0 2
Muscular dystrophy 0 0 2 0 2
Myofibrillar myopathy 3 0 1 1 0 2
Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies 0 1 1 0 2
Pancreatic cancer, susceptibility to, 2 1 1 0 0 2
Phelan-McDermid syndrome 1 1 0 0 2
Polycystic kidney disease 4 0 2 0 0 2
Primary erythromelalgia 0 0 2 0 2
Sialidosis type 2 1 1 0 0 2
Usher syndrome type 2C 0 1 1 0 2
Acrocephalosyndactyly type I 0 1 0 0 1
Acrofacial dysostosis Cincinnati type 0 1 0 0 1
Actin accumulation myopathy; Congenital myopathy 2c, severe infantile, autosomal dominant 0 1 0 0 1
Adams-Oliver syndrome 5 1 0 0 0 1
Adrenoleukodystrophy 1 0 0 0 1
Adult hypophosphatasia 1 0 0 0 1
Aicardi-Goutieres syndrome 5 0 1 0 0 1
Aicardi-Goutieres syndrome 7 0 1 0 0 1
Al Kaissi syndrome 1 0 0 0 1
Alexander disease 1 0 0 0 1
Alzheimer disease 4 0 0 1 0 1
Amelogenesis imperfecta type 1E 0 1 0 0 1
Amyotrophic lateral sclerosis type 1 1 0 0 0 1
Amyotrophic lateral sclerosis type 15 1 0 0 0 1
Amyotrophic lateral sclerosis, susceptibility to, 25 1 0 0 0 1
Aortic aneurysm, familial thoracic 7 0 0 1 0 1
Arrhythmogenic right ventricular dysplasia 8; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 0 0 1 0 1
Atrial conduction disease 0 0 1 0 1
Atrial septal defect 4 0 1 0 0 1
Atrophia bulborum hereditaria 0 1 0 0 1
Autism, susceptibility to, 17 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 12; Autosomal recessive nonsyndromic hearing loss 21 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 17 0 0 1 0 1
Autosomal dominant nonsyndromic hearing loss 20 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 22 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 3A 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 41 0 0 1 0 1
Autosomal dominant nonsyndromic hearing loss 44 0 0 1 0 1
Autosomal dominant nonsyndromic hearing loss 6 0 1 0 0 1
Autosomal dominant slowed nerve conduction velocity 0 0 1 0 1
Autosomal recessive Alport syndrome 0 1 0 0 1
Autosomal recessive early-onset Parkinson disease 6 0 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2L; Miyoshi muscular dystrophy 3 0 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 16 0 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 1A 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 21 0 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 23; Usher syndrome type 1D 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 37 0 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 48 0 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 6 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 79 1 0 0 0 1
Autosomal recessive spastic paraplegia type 76 0 0 1 0 1
Basal cell nevus syndrome 2 1 0 0 0 1
Basilicata-Akhtar syndrome 0 0 1 0 1
Bethlem myopathy 1A 0 1 0 0 1
Blau syndrome 0 1 0 0 1
Borjeson-Forssman-Lehmann syndrome 0 1 0 0 1
Breast-ovarian cancer, familial, susceptibility to, 3 0 1 0 0 1
Breast-ovarian cancer, familial, susceptibility to, 4 0 1 0 0 1
Brugada syndrome 1; Long QT syndrome 3; Dilated cardiomyopathy 1E 0 1 0 0 1
Brugada syndrome 4 0 0 1 0 1
CHD7-related CHARGE syndrome 0 0 1 0 1
Carcinoma of pancreas 0 1 0 0 1
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies 0 1 0 0 1
Cardiomyopathy, familial hypertrophic 27 1 0 0 0 1
Cataract 16 multiple types; Dilated cardiomyopathy 1II 0 1 0 0 1
Cataract 4 multiple types 0 1 0 0 1
Central core myopathy 0 1 0 0 1
Charcot-Marie-Tooth disease axonal type 2C 0 0 1 0 1
Charcot-Marie-Tooth disease axonal type 2CC 0 0 1 0 1
Charcot-Marie-Tooth disease axonal type 2N 0 0 1 0 1
Charcot-Marie-Tooth disease axonal type 2P 0 1 0 0 1
Charcot-Marie-Tooth disease axonal type 2V 0 1 0 0 1
Charcot-Marie-Tooth disease axonal type 2Z 0 1 0 0 1
Charcot-Marie-Tooth disease type 1C 0 0 1 0 1
Charcot-Marie-Tooth disease type 2A2 0 1 0 0 1
Charcot-Marie-Tooth disease type 2I; Charcot-Marie-Tooth disease type 2J; Charcot-Marie-Tooth disease type 1B; Charcot-Marie-Tooth disease dominant intermediate D 0 1 0 0 1
Charcot-Marie-Tooth disease, demyelinating, IIA 1I 1 0 0 0 1
Classic homocystinuria 0 0 1 0 1
Coffin-Siris syndrome 10 0 0 1 0 1
Congenital contractural arachnodactyly 0 0 1 0 1
Congenital heart defects, multiple types, 2 0 1 0 0 1
Congenital vertical talus 0 0 1 0 1
Coronary artery disease, autosomal dominant, 1 1 0 0 0 1
Creatine transporter deficiency 0 1 0 0 1
Cystic fibrosis 1 0 0 0 1
DDX41-related hematologic malignancy predisposition syndrome 0 1 0 0 1
DYRK1A-related intellectual disability syndrome 1 0 0 0 1
Developmental and epileptic encephalopathy 92 1 0 0 0 1
Developmental and epileptic encephalopathy, 69 0 1 0 0 1
Developmental and epileptic encephalopathy, 9 0 0 1 0 1
Developmental delay, behavioral abnormalities, and neuropsychiatric disorders 0 1 0 0 1
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities 0 0 1 0 1
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy 0 1 0 0 1
Dilated cardiomyopathy 1AA 0 0 1 0 1
Dilated cardiomyopathy 1CC 0 1 0 0 1
Dilated cardiomyopathy 1D 0 0 1 0 1
Dilated cardiomyopathy 1I 1 0 0 0 1
Dilated cardiomyopathy 1R 0 1 0 0 1
Dilated cardiomyopathy 1Y 0 1 0 0 1
Duchenne muscular dystrophy 0 1 0 0 1
Dystonia 25 0 0 1 0 1
Ehlers-Danlos syndrome, classic-like, 2 0 1 0 0 1
Emery-Dreifuss muscular dystrophy 1, X-linked 1 0 0 0 1
Emery-Dreifuss muscular dystrophy 7, autosomal dominant 0 1 0 0 1
Endometrial carcinoma 0 0 1 0 1
Endometrial carcinoma; Lynch syndrome 5 0 1 0 0 1
Epilepsy, familial focal, with variable foci 2 0 0 1 0 1
Epilepsy, familial focal, with variable foci 4 0 0 1 0 1
Epilepsy, familial temporal lobe, 1 0 1 0 0 1
Epilepsy, idiopathic generalized, susceptibility to, 14 0 1 0 0 1
Familial Mediterranean fever, autosomal dominant 1 0 0 0 1
Familial adenomatous polyposis 3 1 0 0 0 1
Familial encephalopathy with neuroserpin inclusion bodies 0 0 1 0 1
Familial hypokalemia-hypomagnesemia 1 0 0 0 1
Familial isolated deficiency of vitamin E 0 1 0 0 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 0 1 0 0 1
Genitopatellar syndrome; Blepharophimosis - intellectual disability syndrome, SBBYS type 0 1 0 0 1
Genitourinary and/or brain malformation syndrome 0 1 0 0 1
Global developmental delay with or without impaired intellectual development 0 1 0 0 1
Hearing impairment 0 1 0 0 1
Hearing loss, autosomal dominant 73 0 1 0 0 1
Hearing loss, autosomal dominant 82 0 1 0 0 1
Hearing loss, autosomal recessive 106 0 1 0 0 1
Hereditary diffuse gastric adenocarcinoma 0 0 1 0 1
Hereditary leiomyomatosis and renal cell cancer 0 1 0 0 1
Hereditary nonpolyposis colorectal carcinoma 0 1 0 0 1
Hereditary pancreatitis 1 0 0 0 1
Hereditary spastic paraplegia 15 1 0 0 0 1
Hereditary spastic paraplegia 30 0 1 0 0 1
Hereditary spastic paraplegia 31; Neuronopathy, distal hereditary motor, type 5B 0 1 0 0 1
Hereditary spastic paraplegia 73 0 1 0 0 1
Hereditary xanthinuria type 1 0 0 1 0 1
Hypercholanemia, familial, 2 0 1 0 0 1
Hypercholesterolemia, autosomal dominant, 3 0 0 1 0 1
Hypertrophic cardiomyopathy 1 0 0 0 1
Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1S 0 1 0 0 1
Hypertrophic cardiomyopathy 4; Left ventricular noncompaction 10 1 0 0 0 1
Inflammatory bowel disease 30 0 1 0 0 1
Intellectual developmental disorder 61 0 0 1 0 1
Intellectual developmental disorder and retinitis pigmentosa; IDDRP 0 1 0 0 1
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures 1 0 0 0 1
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 1 0 0 0 1
Intellectual developmental disorder with macrocephaly, seizures, and speech delay 0 1 0 0 1
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies 0 0 1 0 1
Intellectual developmental disorder, autosomal dominant 64 1 0 0 0 1
Intellectual disability, X-linked 1 0 0 1 0 1
Intellectual disability, X-linked 19 0 0 1 0 1
Intellectual disability, X-linked 21 0 0 1 0 1
Intellectual disability, X-linked 61 0 0 1 0 1
Intellectual disability, X-linked, syndromic, Bain type 0 1 0 0 1
Intellectual disability, autosomal dominant 34 0 1 0 0 1
Intellectual disability, autosomal dominant 45 0 1 0 0 1
Intellectual disability, autosomal dominant 50 1 0 0 0 1
Intellectual disability, autosomal dominant 52 1 0 0 0 1
Juvenile polyposis syndrome 1 0 0 0 1
Kleefstra syndrome 2 0 0 1 0 1
Left ventricular noncompaction 7 0 1 0 0 1
Leri-Weill dyschondrosteosis 0 1 0 0 1
Lissencephaly 10 0 1 0 0 1
Long QT syndrome 11 0 1 0 0 1
Long QT syndrome 3 1 0 0 0 1
Lopes-Maciel-Rodan syndrome 0 0 1 0 1
Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin 0 1 0 0 1
Melanoma 1 0 0 0 1
Microcephaly 9, primary, autosomal recessive 0 1 0 0 1
Migraine, familial hemiplegic, 1 0 0 1 0 1
Mitochondrial trifunctional protein deficiency 2 1 0 0 0 1
Moyamoya disease 2 0 1 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14; Autosomal recessive limb-girdle muscular dystrophy type 2T 0 0 1 0 1
Myofibrillar myopathy 4 0 1 0 0 1
Myofibrillar myopathy 5 0 0 1 0 1
Myopathy, distal, 6, adult-onset, autosomal dominant 0 0 1 0 1
Myopathy, proximal, and ophthalmoplegia 0 0 1 0 1
Nail-patella syndrome; Nail-patella-like renal disease 0 1 0 0 1
Neurodegeneration with brain iron accumulation 5 1 0 0 0 1
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities 0 1 0 0 1
Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities 0 1 0 0 1
Neurodevelopmental disorder with visual defects and brain anomalies 0 1 0 0 1
Neurofibromatosis-Noonan syndrome 1 0 0 0 1
Neuropathy, hereditary sensory and autonomic, type 1A 0 0 1 0 1
Neuropathy, hereditary sensory, type 1F 0 0 1 0 1
Neuropathy, hereditary sensory, type 2C 0 1 0 0 1
Niemann-Pick disease, type C1 0 1 0 0 1
Noonan syndrome 2 0 0 1 0 1
Noonan syndrome 2; LZTR1-related schwannomatosis 1 0 0 0 1
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 0 1 0 0 1
Palmoplantar keratoderma, punctate type 1A 1 0 0 0 1
Pancreatic cancer, susceptibility to, 4 1 0 0 0 1
Parkinson disease, late-onset 1 0 0 0 1
Polycystic kidney disease 3 with or without polycystic liver disease 0 0 1 0 1
Polyposis syndrome, hereditary mixed, 2 0 1 0 0 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 0 0 1 0 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 0 0 1 0 1
Pseudopseudohypoparathyroidism 1 0 0 0 1
Rahman syndrome 0 1 0 0 1
Renal tubular acidosis with progressive nerve deafness 1 0 0 0 1
Rett syndrome 1 0 0 0 1
Rienhoff syndrome 0 0 1 0 1
Sandhoff disease 0 1 0 0 1
Seizure 1 0 0 0 1
Seizures, benign familial neonatal, 1; Developmental and epileptic encephalopathy, 7 1 0 0 0 1
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 0 1 0 0 1
Severe myoclonic epilepsy in infancy 0 1 0 0 1
Shprintzen-Goldberg syndrome 0 1 0 0 1
Sifrim-Hitz-Weiss syndrome 0 1 0 0 1
Silver-Russell syndrome 5 0 1 0 0 1
Skraban-Deardorff syndrome 0 0 1 0 1
Snijders Blok-Campeau syndrome 0 0 1 0 1
Snijders blok-fisher syndrome 0 0 1 0 1
Sotos syndrome 0 1 0 0 1
Spastic paraplegia 0 1 0 0 1
Spastic paraplegia 82, autosomal recessive 0 1 0 0 1
Spastic tetraplegia and axial hypotonia, progressive 1 0 0 0 1
Spinocerebellar ataxia 43 0 1 0 0 1
Spinocerebellar ataxia 49 0 0 1 0 1
Spinocerebellar ataxia type 23 0 1 0 0 1
Spondylocostal dysostosis 4, autosomal recessive 0 0 1 0 1
Spondyloepimetaphyseal dysplasia, PAPSS2 type 1 0 0 0 1
Syndromic X-linked intellectual disability 14 0 1 0 0 1
Syndromic X-linked intellectual disability Claes-Jensen type 0 1 0 0 1
Thrombophilia due to protein S deficiency, autosomal dominant 0 1 0 0 1
Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure 0 1 0 0 1
Treacher Collins syndrome 1 0 1 0 0 1
Usher syndrome type 1 0 1 0 0 1
Usher syndrome type 1D 0 1 0 0 1
Usher syndrome type 2A 0 1 0 0 1
Vacuolar Neuromyopathy 0 1 0 0 1
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome 0 0 1 0 1
Waardenburg syndrome type 4A 0 1 0 0 1
X-linked myopathy with postural muscle atrophy 0 1 0 0 1

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