ClinVar Miner

Variants from SIB Swiss Institute of Bioinformatics

Location: Switzerland  Primary collection method: curation
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
165 586 296 17 80 1144

Gene and significance breakdown #

Total genes and gene combinations: 402
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
KIF1A 3 26 8 0 0 37
SOX11 4 27 5 0 0 36
MYORG 1 7 16 0 0 24
EPG5 5 11 5 0 0 21
CHD3 8 10 2 0 0 20
MPV17 1 13 6 0 0 20
TLK2 7 5 6 0 0 18
GRIA2 1 13 1 0 0 15
EPHB4 2 3 9 0 0 14
EPHB4, LOC126860124 1 6 7 0 0 14
ACTL6B 0 9 4 0 0 13
EIF2AK2 0 2 10 0 0 12
NARS1 1 4 7 0 0 12
PPP2CA 1 10 1 0 0 12
JAG2 0 2 9 0 0 11
KMT2B 0 4 7 0 0 11
TRIO 9 2 0 0 0 11
DEGS1 1 5 4 0 0 10
DNHD1 0 7 3 0 0 10
CDC45 0 6 3 0 0 9
IPO8 1 7 1 0 0 9
LPAR6, RB1 0 7 2 0 0 9
MYH3 2 3 4 0 0 9
RPE65 0 5 4 0 0 9
TRIP11 5 4 0 0 0 9
ATP7B 0 3 3 1 1 8
CLCN3 0 7 1 0 0 8
ERI1 0 8 0 0 0 8
GUCA1A, LOC118142757 1 4 3 0 0 8
MAPK8IP3 0 5 3 0 0 8
PKHD1 0 0 2 1 5 8
PRR12 5 3 0 0 0 8
SASH1 0 6 2 0 0 8
ANKRD17 0 7 0 0 0 7
CDC14A 4 3 0 0 0 7
FBXW11 0 7 0 0 0 7
GBA2 4 3 0 0 0 7
GUCA1A, GUCA1ANB-GUCA1A 1 5 1 0 0 7
MN1 6 1 0 0 0 7
PATL2 1 3 3 0 0 7
PLS3 0 3 4 0 0 7
STT3A 1 3 3 0 0 7
TREM2 2 3 2 0 0 7
CDIN1 0 4 2 0 0 6
CEP250 2 3 1 0 0 6
FN1 0 5 1 0 0 6
GPAA1 0 5 1 0 0 6
PARS2 0 0 6 0 0 6
RHOBTB2 2 4 0 0 0 6
SBDS 0 0 5 0 1 6
SETD1B 3 3 0 0 0 6
SMPD4 0 3 3 0 0 6
SPOP 0 6 0 0 0 6
TBL1X 0 1 5 0 0 6
TRPV6 0 6 0 0 0 6
MTHFD1 1 4 0 0 0 5
PDZD7 0 4 1 0 0 5
SYT1 0 5 0 0 0 5
TRIT1 1 0 4 0 0 5
YWHAG 0 3 2 0 0 5
ANO5 1 3 0 0 0 4
BIN1 0 4 0 0 0 4
BRD4 0 2 2 0 0 4
CALM1, LOC126862021 4 0 0 0 0 4
CARMIL2 1 3 0 0 0 4
COL3A1 2 2 0 0 0 4
DRG1 0 4 0 0 0 4
GALNT2 2 2 0 0 0 4
IFT74 1 3 0 0 0 4
IFT81 0 3 1 0 0 4
JAG1 0 2 1 0 1 4
KMT5B 0 1 3 0 0 4
NCKAP1L 0 4 0 0 0 4
NFIB 1 3 0 0 0 4
SPI1 2 2 0 0 0 4
WARS1 0 2 2 0 0 4
ZNF341 4 0 0 0 0 4
ACTN2 0 2 1 0 0 3
ALG14 0 1 2 0 0 3
ARSB 0 2 0 0 1 3
BCKDHA 0 2 0 0 1 3
BMP2 0 3 0 0 0 3
C1orf105, PIGC 0 3 0 0 0 3
CBS 0 1 0 1 1 3
CCN6 2 0 0 1 0 3
CHD7 0 0 0 1 2 3
COL4A3, MFF-DT 0 0 2 0 1 3
CPLX1 0 2 1 0 0 3
CSGALNACT1 0 3 0 0 0 3
CYFIP2 0 3 0 0 0 3
DNAH17 2 1 0 0 0 3
DNAJB11 1 2 0 0 0 3
EXOSC5 0 2 1 0 0 3
FBN1 0 1 1 1 0 3
GGA3, NUP85 0 2 1 0 0 3
IMPG1 0 1 2 0 0 3
INTU 0 3 0 0 0 3
KANSL1 3 0 0 0 0 3
KMT2C 0 3 0 0 0 3
LIPT2 0 3 0 0 0 3
LOC101928525, MRPS2 3 0 0 0 0 3
MBD5 0 0 3 0 0 3
MFN2 0 2 1 0 0 3
MYO7A 0 0 0 0 3 3
NARS2 0 2 1 0 0 3
NDUFS3 0 2 1 0 0 3
NUP133 0 3 0 0 0 3
PIGS 0 3 0 0 0 3
PKD1L1 0 0 3 0 0 3
PMM2 0 2 0 0 1 3
POLG, POLGARF 2 0 0 0 1 3
PUM1 0 3 0 0 0 3
SELENBP1 0 3 0 0 0 3
TRHR 1 2 0 0 0 3
USH2A 0 2 0 0 1 3
WDR35 1 2 0 0 0 3
ABCG8 0 1 1 0 0 2
ACTA1 0 2 0 0 0 2
AHI1 0 1 0 0 1 2
APC 0 0 1 0 1 2
ARID2 0 2 0 0 0 2
ASPM 0 0 0 0 2 2
ATAD1 1 0 1 0 0 2
ATM 0 0 1 0 1 2
BTG4 0 2 0 0 0 2
C12orf4 0 2 0 0 0 2
C19orf12 1 0 0 0 1 2
CACNA1A 0 1 1 0 0 2
CACNA1S 1 0 0 0 1 2
CALM1 0 2 0 0 0 2
CDKL5, RS1 0 2 0 0 0 2
CFTR 0 0 2 0 0 2
CLXN 0 2 0 0 0 2
COL7A1 0 0 0 0 2 2
COX6A2 0 2 0 0 0 2
DHPS 0 2 0 0 0 2
DHX38 0 1 1 0 0 2
DNAH10 0 0 2 0 0 2
DNAH10, DNAH10OS 0 1 1 0 0 2
ERBB3 0 2 0 0 0 2
FAT2, SLC36A1 0 0 2 0 0 2
FDX2, FDX2-ZGLP1 0 1 1 0 0 2
FGFR2 1 0 0 0 1 2
GDF6 1 0 1 0 0 2
GINS1 0 2 0 0 0 2
GJA8 1 1 0 0 0 2
GPC4 2 0 0 0 0 2
HAAO 2 0 0 0 0 2
HMGCS2 0 2 0 0 0 2
IFT43 0 2 0 0 0 2
IREB2 0 2 0 0 0 2
KCNH2 0 1 1 0 0 2
KCNQ1 0 1 1 0 0 2
KDM5B 0 2 0 0 0 2
LDHD 0 2 0 0 0 2
LOC126860990, MINPP1 0 0 2 0 0 2
LOC130006506, NARS2 0 1 1 0 0 2
LOC130064510, TGFB1 0 2 0 0 0 2
MCCC2 0 1 1 0 0 2
MECP2 0 0 1 0 1 2
MINPP1 0 1 1 0 0 2
MKKS 0 1 0 0 1 2
MYBPC3 0 0 2 0 0 2
NF1 0 0 2 0 0 2
NUP107 1 1 0 0 0 2
NUP160 0 0 2 0 0 2
PAK1 0 2 0 0 0 2
PCGF2 0 2 0 0 0 2
PEX1 1 0 0 0 1 2
POMT2 0 1 0 0 1 2
RAB11B 0 2 0 0 0 2
SCN5A 0 1 1 0 0 2
SETBP1 1 0 0 0 1 2
SGCB 0 2 0 0 0 2
SGSH 0 1 0 0 1 2
SLC17A5 1 0 0 0 1 2
SLC45A2 0 0 2 0 0 2
SLC6A6 0 2 0 0 0 2
SPAST 0 0 1 1 0 2
TBC1D8B 0 2 0 0 0 2
TNNT3 1 1 0 0 0 2
TUBB4B 0 2 0 0 0 2
WNT10A 0 0 2 0 0 2
AAAS 0 1 0 0 0 1
ABCB4 0 0 0 0 1 1
ABCD1 0 0 1 0 0 1
ABCG5 0 0 1 0 0 1
ACAD9 0 0 1 0 0 1
ACADVL 0 0 1 0 0 1
ACAT1 0 1 0 0 0 1
ADPRS 1 0 0 0 0 1
AEBP1 0 1 0 0 0 1
AGRN 0 0 0 0 1 1
AGXT 0 1 0 0 0 1
AK7 0 1 0 0 0 1
ALDH18A1 0 0 0 0 1 1
ALDH1L2 0 0 1 0 0 1
ALDOB 1 0 0 0 0 1
ALG8 0 0 0 0 1 1
ALOX12B 0 1 0 0 0 1
ALPL 0 1 0 0 0 1
AMACR, C1QTNF3-AMACR 0 0 0 0 1 1
ANK1 0 0 0 0 1 1
AP2M1 0 1 0 0 0 1
AP3B1 0 0 0 0 1 1
ARL3 0 0 1 0 0 1
ARPC4, ARPC4-TTLL3 0 1 0 0 0 1
ARSA 0 0 0 0 1 1
ARSB, LOC129994126 0 1 0 0 0 1
ASAH1 0 1 0 0 0 1
ASL 0 1 0 0 0 1
ASPA, SPATA22 0 1 0 0 0 1
ASS1 0 1 0 0 0 1
ATL1 1 0 0 0 0 1
ATP11C 0 1 0 0 0 1
ATP1A3 1 0 0 0 0 1
ATP6V0A2 0 0 0 0 1 1
ATXN7L3, UBTF 0 1 0 0 0 1
BBS12 0 0 1 0 0 1
BEST1, FTH1 0 1 0 0 0 1
BRAF 0 1 0 0 0 1
BSCL2, HNRNPUL2-BSCL2 1 0 0 0 0 1
BSND 0 0 0 0 1 1
C14orf39, SIX6 0 0 0 0 1 1
CAPN3 1 0 0 0 0 1
CAPN3, LOC126862115 0 0 0 0 1 1
CAPRIN1 0 1 0 0 0 1
CAV3, SSUH2 1 0 0 0 0 1
CCDC103 0 1 0 0 0 1
CCDC39 0 0 1 0 0 1
CCNH, RASA1 0 0 1 0 0 1
CEP290 0 0 0 0 1 1
CFL2 0 0 1 0 0 1
CIB2 0 0 1 0 0 1
CLN5 0 0 0 0 1 1
CLN5, LOC130009913 0 0 0 1 0 1
CLN6 0 0 0 0 1 1
CLN8 0 0 0 1 0 1
CLPB, LOC126861258 0 1 0 0 0 1
CLPX 0 1 0 0 0 1
CNNM2 0 1 0 0 0 1
COG4 1 0 0 0 0 1
COL5A1 0 0 0 0 1 1
CPLANE1 0 0 1 0 0 1
CTNNB1 0 0 1 0 0 1
CUL7 0 0 1 0 0 1
CUX2 0 1 0 0 0 1
CYB5A 0 1 0 0 0 1
CYB5A, LOC132090521 0 1 0 0 0 1
DENND5A 0 0 1 0 0 1
DES 0 1 0 0 0 1
DHTKD1 0 1 0 0 0 1
DMD 0 0 0 1 0 1
DNMBP 1 0 0 0 0 1
DSP 0 0 1 0 0 1
DYNC1H1 0 1 0 0 0 1
DYSF 0 1 0 0 0 1
EDAR, RANBP2 1 0 0 0 0 1
EFL1 0 0 1 0 0 1
EIF3F 0 1 0 0 0 1
ELMOD3 0 1 0 0 0 1
EME2, LOC130058184, MRPS34 0 1 0 0 0 1
EME2, MRPS34 0 1 0 0 0 1
ENG 0 0 0 1 0 1
EPG5, LOC126862737 0 0 1 0 0 1
EPS8L3 0 0 1 0 0 1
ESR1 0 1 0 0 0 1
ESRP1 1 0 0 0 0 1
FGFR1 0 0 0 1 0 1
FLNA 0 0 0 0 1 1
GAA 0 1 0 0 0 1
GAB1 1 0 0 0 0 1
GALC 0 0 1 0 0 1
GALNT3 1 0 0 0 0 1
GALT 0 1 0 0 0 1
GHR 0 0 0 0 1 1
GLA, RPL36A-HNRNPH2 0 0 0 0 1 1
GLI1 0 0 1 0 0 1
GLI3 0 0 0 1 0 1
GP9 0 0 0 0 1 1
GRAP 0 1 0 0 0 1
GUCA1A, GUCA1ANB-GUCA1A, GUCA1B 0 1 0 0 0 1
GUCY2D 0 0 1 0 0 1
HFE 0 0 1 0 0 1
HIBCH 0 1 0 0 0 1
HNF1B 0 0 1 0 0 1
IKBKB 1 0 0 0 0 1
IQCN 0 1 0 0 0 1
JPH2 0 0 1 0 0 1
KAT14, PET117 0 1 0 0 0 1
KCNE1 0 0 1 0 0 1
KCNQ2 1 0 0 0 0 1
KIF5C 1 0 0 0 0 1
KIF7, LOC126862216 0 0 0 0 1 1
KL 0 1 0 0 0 1
LDLR 0 0 1 0 0 1
LMNA 0 1 0 0 0 1
LOC123493284, NPR3 0 1 0 0 0 1
LOC126806253, STAMBP 0 1 0 0 0 1
LOC126859690, PKHD1 1 0 0 0 0 1
LOC126862264, MEFV 0 1 0 0 0 1
LOC126862611, TLK2 1 0 0 0 0 1
LOC129931648, NTRK1 0 0 0 1 0 1
LOC129996857, NDUFAF4 0 1 0 0 0 1
LOC130056977, PATL2 0 1 0 0 0 1
LRP5 0 0 1 0 0 1
LTBP3 0 0 1 0 0 1
MAFA 0 1 0 0 0 1
MCCC1 0 1 0 0 0 1
MEI1 0 1 0 0 0 1
MRPS7 0 1 0 0 0 1
MYCL, TRIT1 0 1 0 0 0 1
MYH7 0 0 1 0 0 1
MYL1 0 1 0 0 0 1
MYLK 0 0 0 1 0 1
NDUFAF2 1 0 0 0 0 1
NDUFAF3 0 1 0 0 0 1
NLRP1 0 0 1 0 0 1
NLRP3 0 1 0 0 0 1
NOTCH2 0 1 0 0 0 1
NPC1 0 0 0 0 1 1
NPHS1 0 0 0 0 1 1
NPR3 0 1 0 0 0 1
NUP37 0 1 0 0 0 1
OPA1 0 0 1 0 0 1
ORC4 0 1 0 0 0 1
PANK2 1 0 0 0 0 1
PDGFRB 1 0 0 0 0 1
PET100, STXBP2 0 1 0 0 0 1
PEX3 0 1 0 0 0 1
PFKM 0 0 0 0 1 1
PGM1 0 0 0 0 1 1
PHEX, PTCHD1 1 0 0 0 0 1
PHYH 0 0 0 0 1 1
PIK3C2A 0 1 0 0 0 1
PIK3CD 1 0 0 0 0 1
PKD1 0 0 0 0 1 1
PKP2 0 0 1 0 0 1
PLD3 0 0 1 0 0 1
POLH, POLR1C 0 0 0 1 0 1
POLR1C 1 0 0 0 0 1
PRICKLE1 0 0 0 0 1 1
PRKAG2 1 0 0 0 0 1
PRKAR1B 0 1 0 0 0 1
PSEN2 0 0 0 1 0 1
PTPRQ 0 0 1 0 0 1
PYGM 0 1 0 0 0 1
RAB18 0 0 0 0 1 1
RAD21 1 0 0 0 0 1
RBL2 0 1 0 0 0 1
RNASEH2B 0 1 0 0 0 1
RNASEH2C 0 1 0 0 0 1
RNF170 0 1 0 0 0 1
RUNX2 0 0 0 0 1 1
RYR1 0 1 0 0 0 1
RYR2 0 1 0 0 0 1
SCN1A 0 0 0 0 1 1
SCN8A 0 0 1 0 0 1
SEC61A1 0 1 0 0 0 1
SEMA4A 0 0 0 0 1 1
SERAC1 0 0 1 0 0 1
SGCG 0 0 0 0 1 1
SKI 0 1 0 0 0 1
SLC16A2 0 1 0 0 0 1
SLC1A2 0 1 0 0 0 1
SLC22A5 0 0 0 0 1 1
SLC25A10 0 1 0 0 0 1
SLC25A42 1 0 0 0 0 1
SLC26A4 0 0 1 0 0 1
SLC37A4 1 0 0 0 0 1
SLC39A4 0 0 0 0 1 1
SLC9A7 0 1 0 0 0 1
SMARCB1 0 0 1 0 0 1
SOHLH1 1 0 0 0 0 1
SPG7 0 1 0 0 0 1
SRD5A2 0 1 0 0 0 1
SRPX2 0 0 1 0 0 1
SYNE2 0 0 0 0 1 1
SYNGAP1 0 0 0 0 1 1
TARDBP 0 1 0 0 0 1
TBCEL-TECTA, TECTA 0 0 0 0 1 1
TCIRG1 0 0 0 0 1 1
TCN2 0 0 0 0 1 1
TCOF1 0 0 0 0 1 1
TECPR2 0 0 0 0 1 1
TET3 0 0 1 0 0 1
TGFB1 0 1 0 0 0 1
TMEM106B 0 1 0 0 0 1
TMEM17 0 0 1 0 0 1
TMEM218 0 1 0 0 0 1
TMEM67 0 0 1 0 0 1
TMOD1 0 0 1 0 0 1
TOP6BL 0 0 1 0 0 1
TRAK1 0 0 1 0 0 1
TSC2 0 0 0 0 1 1
TTC21B 0 0 1 0 0 1
TXNRD2 0 1 0 0 0 1
UFSP2 1 0 0 0 0 1
VIM 0 0 1 0 0 1
VPS13D 0 0 1 0 0 1
WFS1 0 0 1 0 0 1
ZSWIM6 0 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 398
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Intellectual disability, autosomal dominant 27 4 27 5 0 0 36
Capillary malformation-arteriovenous malformation 2 3 9 16 0 0 28
not specified 0 0 0 0 27 27
Basal ganglia calcification, idiopathic, 7, autosomal recessive 1 7 16 0 0 24
Vici syndrome 5 11 6 0 0 22
Hereditary spastic paraplegia 30 1 13 7 0 0 21
Snijders Blok-Campeau syndrome 8 10 2 0 0 20
Intellectual disability, autosomal dominant 57 8 5 6 0 0 19
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 1 12 6 0 0 19
Cone dystrophy 3 2 10 4 0 0 16
Intellectual disability, autosomal dominant 9 2 13 1 0 0 16
Neurodevelopmental disorder with language impairment and behavioral abnormalities 1 13 1 0 0 15
Houge-Janssens syndrome 3 1 10 1 0 0 12
Developmental and epileptic encephalopathy, 76 0 8 3 0 0 11
Dystonia 28, childhood-onset 0 4 7 0 0 11
Muscular dystrophy, limb-girdle, autosomal recessive 27 0 2 9 0 0 11
Leukodystrophy, hypomyelinating, 18 1 5 4 0 0 10
Spermatogenic failure 65 0 7 3 0 0 10
Hypotrichosis 8 0 7 2 0 0 9
Leber congenital amaurosis 2 0 5 4 0 0 9
Meier-Gorlin syndrome 7 0 6 3 0 0 9
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities 0 3 6 0 0 9
VISS syndrome 1 7 1 0 0 9
Autosomal recessive polycystic kidney disease 0 0 2 1 5 8
Dyschromatosis universalis hereditaria 1 0 6 2 0 0 8
Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome 0 0 8 0 0 8
Neurodevelopmental disorder with hypotonia and brain abnormalities 0 7 1 0 0 8
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 0 5 3 0 0 8
Neuroocular syndrome 5 3 0 0 0 8
Oocyte maturation defect 4 1 4 3 0 0 8
Wilson disease 0 3 3 1 1 8
Autosomal recessive nonsyndromic hearing loss 32 4 3 0 0 0 7
CEBALID syndrome 6 1 0 0 0 7
Chopra-Amiel-Gordon syndrome 0 7 0 0 0 7
Congenital disorder of glycosylation, type Iw, autosomal dominant 1 3 3 0 0 7
Hereditary spastic paraplegia 46 4 3 0 0 0 7
Hernia, anterior diaphragmatic 0 3 4 0 0 7
Neurodevelopmental, jaw, eye, and digital syndrome 0 7 0 0 0 7
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 2 3 2 0 0 7
Combined oxidative phosphorylation deficiency 35 1 1 4 0 0 6
Congenital dyserythropoietic anemia type type 1B 0 4 2 0 0 6
Developmental and epileptic encephalopathy, 64 2 4 0 0 0 6
Developmental and epileptic encephalopathy, 75 0 0 6 0 0 6
Glycosylphosphatidylinositol biosynthesis defect 15 0 5 1 0 0 6
Hyperparathyroidism, transient neonatal 0 6 0 0 0 6
Hypothyroidism, congenital, nongoitrous, 8 0 1 5 0 0 6
Intellectual developmental disorder with seizures and language delay 3 3 0 0 0 6
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly 5 1 0 0 0 6
Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies 0 3 3 0 0 6
Shwachman-Diamond syndrome 1 0 0 5 0 1 6
Spondyloepimetaphyseal dysplasia, Guo-Campeau type 0 6 0 0 0 6
Spondylometaphyseal dysplasia - Sutcliffe type 0 5 1 0 0 6
Arthrogryposis, distal, type 2B3 1 1 3 0 0 5
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia 1 4 0 0 0 5
Cone-rod dystrophy and hearing loss 2 2 3 0 0 0 5
Developmental and epileptic encephalopathy, 56 0 3 2 0 0 5
Hearing loss, autosomal recessive 57 0 4 1 0 0 5
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome 0 5 0 0 0 5
Long QT syndrome 14 4 1 0 0 0 5
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 4 1 0 0 0 5
Odontochondrodysplasia 1 2 3 0 0 0 5
Achondrogenesis, type IA 3 1 0 0 0 4
Agammaglobulinemia 10, autosomal dominant 2 2 0 0 0 4
Combined oxidative phosphorylation defect type 24 0 2 2 0 0 4
Congenital disorder of glycosylation, type iit 2 2 0 0 0 4
Dystonia 33 0 2 2 0 0 4
Hyper-IgE recurrent infection syndrome 3, autosomal recessive 4 0 0 0 0 4
Immunodeficiency 72 with autoinflammation 0 4 0 0 0 4
Intellectual disability, autosomal dominant 51 0 1 3 0 0 4
Macrocephaly, acquired, with impaired intellectual development 1 3 0 0 0 4
Mucopolysaccharidosis type 6 0 3 0 0 1 4
Myopathy, centronuclear, 2 0 4 0 0 0 4
Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies 0 4 0 0 0 4
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome 2 2 0 0 0 4
Pontocerebellar hypoplasia, type 16 0 1 3 0 0 4
Severe combined immunodeficiency due to CARMIL2 deficiency 1 3 0 0 0 4
Short-rib thoracic dysplasia 19 with or without polydactyly 0 3 1 0 0 4
Spermatogenic failure 56 0 1 3 0 0 4
Tan-Almurshedi syndrome 0 4 0 0 0 4
Autosomal recessive limb-girdle muscular dystrophy type 2L 1 2 0 0 0 3
Benign concentric annular macular dystrophy 0 1 2 0 0 3
Cerebellar ataxia, brain abnormalities, and cardiac conduction defects 0 2 1 0 0 3
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; 0 2 1 0 0 3
Classic homocystinuria 0 1 0 1 1 3
Combined oxidative phosphorylation deficiency 36 3 0 0 0 0 3
Congenital chylothorax 0 0 3 0 0 3
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A 0 2 1 0 0 3
Developmental and epileptic encephalopathy, 63 0 2 1 0 0 3
Developmental and epileptic encephalopathy, 65 0 3 0 0 0 3
Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities 0 3 0 0 0 3
Extra oral halitosis 0 3 0 0 0 3
Glycosylphosphatidylinositol biosynthesis defect 16 0 3 0 0 0 3
Glycosylphosphatidylinositol biosynthesis defect 18 0 3 0 0 0 3
Hypothyroidism, congenital, nongoitrous, 7 1 2 0 0 0 3
Inflammatory bowel disease, immunodeficiency, and encephalopathy 0 3 0 0 0 3
Intellectual disability, autosomal dominant 1 0 0 3 0 0 3
Joubert syndrome 40 0 3 0 0 0 3
Kleefstra syndrome 2 0 3 0 0 0 3
Koolen-de Vries syndrome 3 0 0 0 0 3
Marfan syndrome 0 1 1 1 0 3
Mitochondrial complex 1 deficiency, nuclear type 8 0 2 1 0 0 3
Myopathy, epilepsy, and progressive cerebral atrophy 0 1 2 0 0 3
Nephrotic syndrome, type 17 0 2 1 0 0 3
Nephrotic syndrome, type 18 0 3 0 0 0 3
Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities 0 1 2 0 0 3
Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities 1 1 1 0 0 3
PMM2-congenital disorder of glycosylation 0 2 0 0 1 3
Polycystic kidney disease 6 with or without polycystic liver disease 1 2 0 0 0 3
Progressive pseudorheumatoid dysplasia 2 0 0 1 0 3
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 0 3 0 0 0 3
Short-rib thoracic dysplasia 20 with polydactyly 0 3 0 0 0 3
Short-rib thoracic dysplasia 7 with or without polydactyly 1 2 0 0 0 3
Skeletal dysplasia, mild, with joint laxity and advanced bone age 0 3 0 0 0 3
Spermatogenic failure 39 2 1 0 0 0 3
Spinocerebellar ataxia 47 0 3 0 0 0 3
Usher syndrome type 1 0 0 0 0 3 3
3-hydroxy-3-methylglutaryl-CoA synthase deficiency 0 2 0 0 0 2
3-methylcrotonyl-CoA carboxylase 2 deficiency 0 1 1 0 0 2
Abnormality of the dentition 0 0 2 0 0 2
Actin accumulation myopathy 0 2 0 0 0 2
Alagille syndrome due to a JAG1 point mutation 0 0 1 0 1 2
Arthrogryposis, distal, type 2B2 1 1 0 0 0 2
Ataxia-telangiectasia syndrome 0 0 1 0 1 2
Autosomal recessive limb-girdle muscular dystrophy type 2A 1 0 0 0 1 2
Autosomal recessive limb-girdle muscular dystrophy type 2E 0 2 0 0 0 2
Bardet-Biedl syndrome 6 0 1 0 0 1 2
Boudin-Mortier syndrome 0 2 0 0 0 2
CHARGE association 0 0 0 1 1 2
Cataract 1 multiple types 1 1 0 0 0 2
Ciliary dyskinesia, primary, 53 0 2 0 0 0 2
Coffin-Siris syndrome 6 0 2 0 0 0 2
Combined immunodeficiency due to GINS1 deficiency 0 2 0 0 0 2
Combined oxidative phosphorylation deficiency 32 0 2 0 0 0 2
Cystic fibrosis 0 0 2 0 0 2
Familial adenomatous polyposis 1 0 0 1 0 1 2
Freeman-Sheldon syndrome 2 0 0 0 0 2
Hereditary spastic paraplegia 4 0 0 1 1 0 2
Hoxha-Aliu syndrome 0 2 0 0 0 2
Hyperekplexia 4 1 0 1 0 0 2
Hypertrophic cardiomyopathy 4 0 0 2 0 0 2
Inborn mitochondrial myopathy 0 1 1 0 0 2
Intellectual developmental disorder with macrocephaly, seizures, and speech delay 0 2 0 0 0 2
Intellectual developmental disorder with severe speech and ambulation defects 0 1 1 0 0 2
Intellectual disability, autosomal recessive 65 0 2 0 0 0 2
Intellectual disability, autosomal recessive 66 0 2 0 0 0 2
Joubert syndrome 3 0 1 0 0 1 2
Juvenile retinoschisis 0 2 0 0 0 2
Keipert syndrome 2 0 0 0 0 2
Lactic aciduria due to D-lactic acid 0 2 0 0 0 2
Leber congenital amaurosis with early-onset deafness 0 2 0 0 0 2
Long QT syndrome 1 0 1 1 0 0 2
Long QT syndrome 2 0 1 1 0 0 2
Maple syrup urine disease 0 2 0 0 0 2
Mental disorder 0 1 1 0 0 2
Methemoglobinemia type 4 0 2 0 0 0 2
Mitochondrial complex 4 deficiency, nuclear type 18 0 2 0 0 0 2
Multiple synostoses syndrome 4 1 0 1 0 0 2
Myopathy, distal, 6, adult-onset, autosomal dominant 0 1 1 0 0 2
Nephrotic syndrome, type 19 0 0 2 0 0 2
Nephrotic syndrome, type 20 0 2 0 0 0 2
Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia 0 2 0 0 0 2
Neurodevelopmental disorder 0 0 2 0 0 2
Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 0 2 0 0 0 2
Neurodevelopmental disorder with microcephaly and dysmorphic facies 0 2 0 0 0 2
Neurodevelopmental disorder with seizures and speech and walking impairment 0 2 0 0 0 2
Neurofibromatosis, type 1 0 0 2 0 0 2
Neuronal ceroid lipofuscinosis 5 0 0 0 1 1 2
Oculocutaneous albinism type 4 0 0 2 0 0 2
Oocyte maturation defect 8 0 2 0 0 0 2
Peroxisome biogenesis disorder 1A (Zellweger) 1 0 0 0 1 2
Recessive dystrophic epidermolysis bullosa 0 0 0 0 2 2
Retinal degeneration 0 2 0 0 0 2
Retinitis pigmentosa 84 0 1 1 0 0 2
Rett syndrome 0 0 1 0 1 2
Sitosterolemia 0 1 1 0 0 2
Spinocerebellar ataxia 45 0 0 2 0 0 2
Turnpenny-fry syndrome 0 2 0 0 0 2
Usher syndrome type 2A 0 1 0 0 1 2
Vertebral, cardiac, renal, and limb defects syndrome 1 2 0 0 0 0 2
Visceral neuropathy, familial, 1, autosomal recessive 0 2 0 0 0 2
2-aminoadipic 2-oxoadipic aciduria 0 1 0 0 0 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 0 1 0 0 0 1
3-methylcrotonyl-CoA carboxylase 1 deficiency 0 1 0 0 0 1
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 0 0 1 0 0 1
3-methylglutaconic aciduria, type VIIB 0 1 0 0 0 1
3M syndrome 1 0 0 1 0 0 1
ALDH18A1-related de Barsy syndrome 0 0 0 0 1 1
ALG8 congenital disorder of glycosylation 0 0 0 0 1 1
Acrocephalosyndactyly type I 1 0 0 0 0 1
Acromelic frontonasal dysostosis 0 1 0 0 0 1
Acyl-CoA dehydrogenase 9 deficiency 0 0 1 0 0 1
Adrenoleukodystrophy 0 0 1 0 0 1
Adult hypophosphatasia 0 1 0 0 0 1
Aicardi-Goutieres syndrome 2 0 1 0 0 0 1
Aicardi-Goutieres syndrome 3 0 1 0 0 0 1
Allan-Herndon-Dudley syndrome 0 1 0 0 0 1
Alternating hemiplegia of childhood 2 1 0 0 0 0 1
Alzheimer disease 4 0 0 0 1 0 1
Amyotrophic lateral sclerosis type 10 0 1 0 0 0 1
Aortic aneurysm, familial thoracic 7 0 0 0 1 0 1
Argininosuccinate lyase deficiency 0 1 0 0 0 1
Arrhythmogenic right ventricular dysplasia 8 0 0 1 0 0 1
Arrhythmogenic right ventricular dysplasia 9 0 0 1 0 0 1
Autoinflammation with arthritis and dyskeratosis 0 0 1 0 0 1
Autosomal dominant Alport syndrome 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 6 0 0 1 0 0 1
Autosomal dominant optic atrophy classic form 0 0 1 0 0 1
Autosomal recessive Alport syndrome 0 0 1 0 0 1
Autosomal recessive bestrophinopathy 0 1 0 0 0 1
Autosomal recessive congenital ichthyosis 2 0 1 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2B 0 1 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2C 0 0 0 0 1 1
Autosomal recessive nonsyndromic hearing loss 26 1 0 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 4 0 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 48 0 0 1 0 0 1
Bardet-Biedl syndrome 12 0 0 1 0 0 1
Beck-Fahrner syndrome 0 0 1 0 0 1
Bernard Soulier syndrome 0 0 0 0 1 1
Beta-hydroxyisobutyryl-CoA deacylase deficiency 0 1 0 0 0 1
Brugada syndrome 1 0 0 1 0 0 1
Brunet-Wagner neurodevelopmental syndrome 0 1 0 0 0 1
Capillary malformation-arteriovenous malformation 1 0 0 1 0 0 1
Cardiomyopathy, dilated, 2E 0 0 1 0 0 1
Cataract 30 0 0 1 0 0 1
Cataract 48 1 0 0 0 0 1
Catecholaminergic polymorphic ventricular tachycardia 1 0 1 0 0 0 1
Catecholaminergic polymorphic ventricular tachycardia 4 0 1 0 0 0 1
Ceroid lipofuscinosis, neuronal, 6A 0 0 0 0 1 1
Charcot-Marie-Tooth disease axonal type 2O 0 1 0 0 0 1
Charcot-Marie-Tooth disease, axonal, type 2EE 0 1 0 0 0 1
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder 0 1 0 0 0 1
Choroidal dystrophy, central areolar, 1 0 0 1 0 0 1
Citrullinemia type I 0 1 0 0 0 1
Cleidocranial dysostosis 0 0 0 0 1 1
Combined oxidative phosphorylation deficiency 34 0 1 0 0 0 1
Complex cortical dysplasia with other brain malformations 2 1 0 0 0 0 1
Congenital disorder of glycosylation, type IIw 1 0 0 0 0 1
Congenital myasthenic syndrome 8 0 0 0 0 1 1
Congenital myopathy with reduced type 2 muscle fibers 0 1 0 0 0 1
Cornelia de Lange syndrome 6 0 1 0 0 0 1
Crouzon syndrome 0 0 0 0 1 1
Deafness, congenital heart defects, and posterior embryotoxon 0 1 0 0 0 1
Decreased circulating antibody level 0 1 0 0 0 1
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 0 1 0 0 0 1
Deficiency of acetyl-CoA acetyltransferase 0 1 0 0 0 1
Desmin-related myofibrillar myopathy 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 13 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 41 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 49 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 67 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 68 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 7 1 0 0 0 0 1
Developmental delay, language impairment, and ocular abnormalities 0 1 0 0 0 1
Dilated cardiomyopathy 1A 0 1 0 0 0 1
Dilated cardiomyopathy 1S 0 0 1 0 0 1
Dilated cardiomyopathy 3B 0 0 0 1 0 1
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant 1 0 0 0 0 1
Ehlers-Danlos syndrome, classic type 0 0 0 0 1 1
Ehlers-Danlos syndrome, classic-like, 2 0 1 0 0 0 1
Episodic ataxia type 2 0 1 0 0 0 1
Estrogen resistance syndrome 0 1 0 0 0 1
Exudative vitreoretinopathy 4 0 0 1 0 0 1
Fabry disease 0 0 0 0 1 1
Familial Mediterranean fever 0 1 0 0 0 1
Familial X-linked hypophosphatemic vitamin D refractory rickets 1 0 0 0 0 1
Farber lipogranulomatosis 0 1 0 0 0 1
Finnish congenital nephrotic syndrome 0 0 0 0 1 1
Galactosylceramide beta-galactosidase deficiency 0 0 1 0 0 1
Galloway-Mowat syndrome 7 1 0 0 0 0 1
Geleophysic dysplasia 3 0 0 1 0 0 1
Glucocorticoid deficiency 5 0 1 0 0 0 1
Glucocorticoid deficiency with achalasia 0 1 0 0 0 1
Glycogen storage disease, type II 0 1 0 0 0 1
Glycogen storage disease, type V 0 1 0 0 0 1
Glycogen storage disease, type VII 0 0 0 0 1 1
Greig cephalopolysyndactyly syndrome 0 0 0 1 0 1
Hajdu-Cheney syndrome 0 1 0 0 0 1
Hearing loss, autosomal dominant 73 0 0 1 0 0 1
Hearing loss, autosomal dominant 81 0 1 0 0 0 1
Hearing loss, autosomal recessive 109 1 0 0 0 0 1
Hearing loss, autosomal recessive 114 0 1 0 0 0 1
Hearing loss, autosomal recessive 94 0 1 0 0 0 1
Hemochromatosis type 1 0 0 1 0 0 1
Hereditary acrodermatitis enteropathica 0 0 0 0 1 1
Hereditary fructosuria 1 0 0 0 0 1
Hereditary insensitivity to pain with anhidrosis 0 0 0 1 0 1
Hereditary spastic paraplegia 17 1 0 0 0 0 1
Hereditary spastic paraplegia 3A 1 0 0 0 0 1
Hereditary spastic paraplegia 7 0 1 0 0 0 1
Heterotopia, periventricular, X-linked dominant 0 0 0 0 1 1
Hydatidiform mole, recurrent, 3 0 1 0 0 0 1
Hydatidiform mole, recurrent, 4 0 0 1 0 0 1
Hydrolethalus syndrome 2 0 0 0 0 1 1
Hypercholesterolemia, familial, 1 0 0 1 0 0 1
Hypertrophic cardiomyopathy 6 1 0 0 0 0 1
Hypogonadotropic hypogonadism 2 with or without anosmia 0 0 0 1 0 1
Hypogonadotropic hypogonadism 5 with or without anosmia 0 0 0 0 1 1
Hypokalemic periodic paralysis, type 1 1 0 0 0 0 1
Hypomagnesemia, seizures, and intellectual disability 1 0 1 0 0 0 1
Hypotrichosis 5 0 0 1 0 0 1
Idiopathic cardiomyopathy 0 0 1 0 0 1
Immunodeficiency 14 1 0 0 0 0 1
Immunodeficiency 15a 1 0 0 0 0 1
Increased bone mineral density 0 0 1 0 0 1
Intellectual developmental disorder 60 with seizures 0 1 0 0 0 1
Intellectual developmental disorder, X-linked 108 0 1 0 0 0 1
Intellectual developmental disorder, autosomal recessive 67 0 1 0 0 0 1
Intellectual disability, autosomal dominant 15 0 0 1 0 0 1
Intellectual disability, autosomal dominant 5 0 0 0 0 1 1
Islet cell adenomatosis 0 1 0 0 0 1
Joubert syndrome 39 0 1 0 0 0 1
Joubert syndrome 5 0 0 0 0 1 1
Joubert syndrome 6 0 0 1 0 0 1
Keratitis fugax hereditaria 0 1 0 0 0 1
Laron-type isolated somatotropin defect 0 0 0 0 1 1
Learning Disabilities, Adolescent 0 0 1 0 0 1
Leukodystrophy, hypomyelinating, 16 0 1 0 0 0 1
Long QT syndrome 3 0 1 0 0 0 1
Long QT syndrome 5 0 0 1 0 0 1
Malignant hyperthermia, susceptibility to, 1 0 1 0 0 0 1
Marbach-Schaaf neurodevelopmental syndrome 0 1 0 0 0 1
Meier-Gorlin syndrome 2 0 1 0 0 0 1
Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression 1 0 0 0 0 1
Metachromatic leukodystrophy 0 0 0 0 1 1
Microcephalic osteodysplastic dysplasia, Saul-Wilson type 1 0 0 0 0 1
Microcephaly 24, primary, autosomal recessive 0 1 0 0 0 1
Microcephaly 5, primary, autosomal recessive 0 0 0 0 1 1
Microcephaly-capillary malformation syndrome 0 1 0 0 0 1
Mitochondrial DNA depletion syndrome 19 0 1 0 0 0 1
Mitochondrial complex 1 deficiency, nuclear type 10 1 0 0 0 0 1
Mitochondrial complex 1 deficiency, nuclear type 15 0 1 0 0 0 1
Mitochondrial complex 1 deficiency, nuclear type 18 0 1 0 0 0 1
Mitochondrial complex 4 deficiency, nuclear type 12 0 1 0 0 0 1
Mitochondrial complex 4 deficiency, nuclear type 19 0 1 0 0 0 1
Mucopolysaccharidosis, MPS-III-A 0 1 0 0 0 1
Mungan syndrome 1 0 0 0 0 1
Muscular dystrophy 0 1 0 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 0 1 0 0 0 1
Myofibromatosis, infantile, 1 1 0 0 0 0 1
Myopathy, congenital, with structured cores and z-line abnormalities 0 1 0 0 0 1
Nemaline myopathy 7 0 0 1 0 0 1
Nephronophthisis 12 0 0 1 0 0 1
Nephrotic syndrome, type 11 0 1 0 0 0 1
Neurodegeneration with brain iron accumulation 4 1 0 0 0 0 1
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures 1 0 0 0 0 1
Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline 0 1 0 0 0 1
Neuronal ceroid lipofuscinosis 8 0 0 0 1 0 1
Neuronopathy, distal hereditary motor, type 9 0 1 0 0 0 1
Niemann-Pick disease, type C1 0 0 0 0 1 1
Noonan syndrome 7 0 1 0 0 0 1
Oculocerebrodental syndrome 0 1 0 0 0 1
Orofaciodigital syndrome I 0 0 1 0 0 1
Orofaciodigital syndrome type 6 0 0 1 0 0 1
Ovarian dysgenesis 5 1 0 0 0 0 1
Peroxisome biogenesis disorder 10B 0 1 0 0 0 1
Phytanic acid storage disease 0 0 0 0 1 1
Pigmentary pallidal degeneration 1 0 0 0 0 1
Polycystic kidney disease 4 1 0 0 0 0 1
Polycystic kidney disease, adult type 0 0 0 0 1 1
Preaxial hand polydactyly 0 0 1 0 0 1
Primary ciliary dyskinesia 14 0 0 1 0 0 1
Primary ciliary dyskinesia 17 0 1 0 0 0 1
Primary hyperoxaluria, type I 0 1 0 0 0 1
Progressive familial intrahepatic cholestasis type 3 0 0 0 0 1 1
Progressive sclerosing poliodystrophy 1 0 0 0 0 1
Protoporphyria, erythropoietic, 2 0 1 0 0 0 1
Renal cysts and diabetes syndrome 0 0 1 0 0 1
Retinal dystrophy 0 0 1 0 0 1
Retinitis pigmentosa 39 0 1 0 0 0 1
Retinitis pigmentosa 81 0 1 0 0 0 1
Retinitis pigmentosa 83 0 0 1 0 0 1
Rippling muscle disease 2 1 0 0 0 0 1
Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked 0 0 1 0 0 1
Salla disease 1 0 0 0 0 1
Schinzel-Giedion syndrome 1 0 0 0 0 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 1 0 0 0 0 1
Severe myoclonic epilepsy in infancy 0 0 0 0 1 1
Short-rib thoracic dysplasia 18 with polydactyly 0 1 0 0 0 1
Shprintzen-Goldberg syndrome 0 1 0 0 0 1
Shwachman-Diamond syndrome 2 0 0 1 0 0 1
Sitosterolemia 2 0 0 1 0 0 1
Spastic paraplegia 85, autosomal recessive 0 1 0 0 0 1
Spermatogenic failure 27 0 1 0 0 0 1
Spermatogenic failure 58 1 0 0 0 0 1
Spermatogenic failure 78 0 1 0 0 0 1
Spinocerebellar ataxia 46 0 0 1 0 0 1
Spinocerebellar ataxia type 6 0 0 1 0 0 1
Spondyloepimetaphyseal dysplasia, di rocco type 1 0 0 0 0 1
Spongy degeneration of central nervous system 0 1 0 0 0 1
Telangiectasia, hereditary hemorrhagic, type 1 0 0 0 1 0 1
Tetralogy of Fallot 0 1 0 0 0 1
Treacher Collins syndrome 3 1 0 0 0 0 1
Tuberous sclerosis 2 0 0 0 0 1 1
Tumoral calcinosis, hyperphosphatemic, familial, 1 1 0 0 0 0 1
Tumoral calcinosis, hyperphosphatemic, familial, 3 0 1 0 0 0 1
Very long chain acyl-CoA dehydrogenase deficiency 0 0 1 0 0 1
X-linked congenital hemolytic anemia 0 1 0 0 0 1
Xeroderma pigmentosum variant type 0 0 0 1 0 1

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