ClinVar Miner

Variants from Mayo Clinic Genetic Testing Laboratories,Mayo Clinic

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
315 206 818 726 1405 3468

Gene and significance breakdown #

Total genes and gene combinations: 599
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
APC 65 58 26 29 26 204
MSH6 34 27 33 17 31 142
MLH1 35 12 26 14 23 110
MSH2 35 20 20 10 19 104
BRCA2 12 0 15 43 29 99
BRCA1 12 0 3 20 18 53
TP53 14 9 9 7 8 47
GAA 3 0 2 11 28 44
PTEN 6 3 13 11 5 37
NPC1 1 1 3 12 18 35
POLG 4 3 12 10 7 35
SACS 0 0 14 4 16 34
PMS2 7 0 1 5 20 33
AGL 2 1 3 15 11 32
CDH1 1 1 4 12 10 28
GALNS 0 0 2 6 20 28
VARS2 0 0 5 4 19 28
MLH3 0 2 5 11 9 27
AXIN2 0 0 6 8 12 26
ATP13A2 0 0 3 8 14 25
DARS2 1 0 0 7 16 24
GALC 0 0 5 3 16 24
GNPTAB 0 0 4 4 13 21
IDUA 1 0 3 6 11 21
MAN2B1 0 0 4 6 11 21
SMPD1 0 0 6 3 11 20
PYGL 0 0 3 4 12 19
SGSH 3 1 3 4 8 19
TPP1 2 0 0 2 15 19
HSD17B4 0 1 3 3 11 18
MANBA 0 1 1 2 13 17
PDHX 0 0 3 1 13 17
PEX6 0 1 1 2 13 17
PHKB 0 0 5 9 3 17
SMAD4 4 3 1 4 5 17
CHIT1 0 0 7 4 5 16
GBE1 2 0 5 3 6 16
NRL, PCK2 0 3 4 4 5 16
STK11 0 1 8 2 5 16
ARSB 0 0 4 3 8 15
ARSH 0 0 2 5 8 15
PANK2 1 0 1 5 8 15
PGM1 0 0 1 1 13 15
PYGM 1 0 5 4 5 15
ABCD1 2 1 4 2 5 14
CHAT 0 1 3 4 6 14
GFAP 0 0 5 2 7 14
LARS2 0 1 0 4 9 14
LDHA 0 0 2 4 8 14
OPA1 0 0 3 4 7 14
TIMM44 0 0 0 5 9 14
ABAT 0 0 0 5 8 13
ASAH1 0 0 0 1 12 13
CTSA 0 0 1 6 6 13
GUSB 0 0 2 3 8 13
GYS2 0 0 0 3 10 13
SUGCT 0 0 2 1 10 13
TRAP1 0 0 3 3 7 13
ACACA 0 0 1 7 4 12
ARSA 2 0 2 3 5 12
BMPR1A 0 0 2 4 6 12
COQ8A 0 0 3 0 9 12
COQ8B 0 0 2 4 6 12
CTSD 0 0 1 6 5 12
D2HGDH 0 0 2 1 9 12
GARS 0 0 1 2 9 12
GLB1 1 1 2 2 6 12
MTFMT 0 0 2 3 7 12
NDUFS1 0 0 0 3 9 12
SARS2 0 0 3 4 5 12
ACOX3 0 0 0 2 9 11
ALDH3A2 0 4 1 4 2 11
COX10 0 0 2 3 6 11
CTNS 0 0 1 1 9 11
CTSF 0 0 3 2 6 11
DNA2 0 0 2 2 7 11
ELAC2 0 0 1 2 8 11
LRPPRC 0 0 3 1 7 11
PEX1 1 1 3 1 5 11
PFKM 0 0 1 2 8 11
SLC25A12 0 0 4 4 3 11
ACOX1 0 0 3 2 5 10
AMACR, C1QTNF3-AMACR 0 0 0 3 7 10
DLAT 0 0 2 1 7 10
DLD 0 0 1 4 5 10
EARS2 0 0 2 2 6 10
FBXL4 0 1 2 2 5 10
GRN 0 0 2 3 5 10
OGDH 0 0 1 2 7 10
SUMF1 0 0 1 4 5 10
AARS2 0 0 3 3 3 9
ABCB7 0 0 2 2 5 9
ACAD9 0 0 4 1 4 9
AGA 0 0 2 3 4 9
AMPD1 1 1 4 1 2 9
APTX 0 0 2 1 6 9
AUH 0 0 5 1 3 9
GBA, LOC106627981 5 1 2 0 1 9
MCOLN1 0 0 1 4 4 9
MUTYH 2 0 1 1 5 9
PEX5 0 0 2 2 5 9
PHKA2 0 1 2 3 3 9
SCP2 0 0 0 1 8 9
TARS2 0 0 2 2 5 9
TRMU 0 0 1 1 7 9
AFG3L2 0 0 3 0 5 8
CA5A 0 0 1 2 5 8
ENO3 0 0 0 0 8 8
FUCA1 0 0 2 0 6 8
HGSNAT 0 1 0 2 5 8
NAGLU 0 1 0 3 4 8
NDUFAF1 0 0 1 1 6 8
PEX10 0 0 3 2 3 8
PEX14 0 0 1 2 5 8
PPT1 0 0 1 4 3 8
RARS2 0 0 0 4 4 8
SCO2, TYMP 0 0 1 2 5 8
SLC19A3 1 0 2 0 5 8
AASS 0 0 4 1 2 7
ATP5F1A 1 0 2 1 3 7
CLN6 0 0 3 3 1 7
ECH1 0 0 1 0 6 7
ETFDH 0 0 2 4 1 7
GFM1 0 0 0 3 4 7
GLA, RPL36A-HNRNPH2 1 0 0 1 5 7
GM2A 0 0 0 1 6 7
HEXA 1 0 0 1 5 7
IBA57 0 1 1 3 2 7
IDS, LOC106050102 0 0 2 1 4 7
ISCU 0 0 1 3 3 7
KCTD7 0 0 0 5 2 7
MTO1 0 0 4 0 3 7
NDUFA10 0 0 2 1 4 7
PC 0 0 1 2 4 7
PNPT1 0 0 0 2 5 7
PRKAG2 0 0 2 0 5 7
BCS1L 0 1 1 1 3 6
CLN3 0 0 2 2 2 6
CLN5 0 0 0 2 4 6
COA8 0 0 2 0 4 6
DGUOK 0 0 3 1 2 6
DNM1L 0 0 1 1 4 6
GFER 1 1 1 0 3 6
GNPTG 0 0 3 3 0 6
GNS 0 0 0 2 4 6
GYG1 0 0 0 2 4 6
IARS2 0 0 0 2 4 6
IDUA, SLC26A1 0 0 1 1 4 6
LAMP2 0 0 1 2 3 6
LIPA 0 0 1 2 3 6
NDUFAF5 0 0 0 3 3 6
NDUFAF6 0 0 1 2 3 6
NUBPL 0 1 3 2 0 6
PDZD9, UQCRC2 0 0 0 2 4 6
PSAP 0 0 0 0 6 6
SLC17A5 0 0 2 1 3 6
SUCLA2 0 0 1 1 4 6
SURF1 0 0 0 2 4 6
TMEM70 0 0 0 2 4 6
AIFM1, RAB33A 0 0 0 2 3 5
C12orf65 1 0 2 1 1 5
CLN5, FBXL3 0 1 1 0 3 5
CLPP 0 0 0 2 3 5
CYC1 0 0 1 2 2 5
DBNL, PGAM2 0 1 0 2 2 5
DNAJC5 0 0 1 1 3 5
DNASE1, TRAP1 0 0 2 1 2 5
EPM2A 0 1 1 2 1 5
ETHE1 0 0 2 1 2 5
FASTKD2 0 0 2 2 1 5
GNPAT 0 0 0 2 3 5
MFSD8 0 0 0 2 3 5
MILR1, POLG2 0 0 1 1 3 5
NAGA 1 0 0 0 4 5
NCAPH2, SCO2, TYMP 0 0 0 1 4 5
NDUFV1 0 0 1 1 3 5
NEB 0 0 5 0 0 5
NEU1 1 0 0 2 2 5
OXCT1 0 0 1 2 2 5
PDHB 0 0 1 2 2 5
PEX16 0 0 0 1 4 5
PEX3 0 0 0 0 5 5
PHKA1 0 0 3 1 1 5
PHYH 0 1 0 0 4 5
SLC2A2 0 0 0 0 5 5
SUCLG1 0 0 1 4 0 5
TMEM126A 0 0 2 2 1 5
TRIM37 0 0 0 4 1 5
TTN 0 0 5 0 0 5
YARS2 0 1 0 2 2 5
ACO2 0 0 1 1 2 4
ACP2 0 0 1 2 1 4
AGPS 0 0 1 0 3 4
ALDOA, LOC112694756 0 0 1 2 1 4
CAT 0 0 0 0 4 4
CATIP, PNKD 0 0 1 0 3 4
CHEK2 4 0 0 0 0 4
COQ2, LOC112997540 0 0 0 2 2 4
COQ4 0 0 1 1 2 4
DNAH5 1 0 3 0 0 4
EPM2A, LOC100507557 0 0 0 1 3 4
FARS2 0 0 2 0 2 4
FH 0 0 0 1 3 4
FOXRED1 0 0 1 1 2 4
G6PC 1 0 0 0 3 4
HEXB 0 0 0 0 4 4
L2HGDH 0 0 1 1 2 4
MTPAP 0 0 1 2 1 4
NDUFA9 0 0 1 1 2 4
NDUFAF4 0 0 0 0 4 4
NDUFS4 0 0 1 0 3 4
NFU1 0 0 0 1 3 4
NHLRC1 0 0 1 0 3 4
PDSS1 0 0 0 2 2 4
SERAC1 0 0 1 2 1 4
SFXN4 0 0 0 0 4 4
TSFM 0 0 2 1 1 4
TWNK 0 0 0 1 3 4
ABCD3 0 0 0 1 2 3
ATPAF2 0 0 1 1 1 3
CACNA1A 1 0 1 1 0 3
CDK5RAP2 0 0 3 0 0 3
COQ2 0 0 1 0 2 3
COQ6, ENTPD5 0 0 0 0 3 3
DMAC2L, L2HGDH 0 0 1 1 1 3
DNM1L, YARS2 0 0 0 1 2 3
FA2H 0 0 3 0 0 3
FANCI, POLG 0 0 0 1 2 3
FXN 0 0 0 1 2 3
GCDH 0 0 0 2 1 3
GYS1 0 0 0 1 2 3
HYAL1 0 0 0 0 3 3
IDH2 0 0 0 1 2 3
IDS 1 0 0 2 0 3
LAMA2 0 0 3 0 0 3
LRBA 0 0 3 0 0 3
MECP2 2 1 0 0 0 3
MGME1 0 0 0 0 3 3
MPC1 0 0 0 2 1 3
MRPL3 0 0 2 0 1 3
MRPL44 0 0 1 0 2 3
NDUFB9 0 0 1 1 1 3
NDUFS2 0 0 0 0 3 3
NDUFS7 0 0 1 0 2 3
PDSS2 0 0 1 0 2 3
PEX2 0 0 2 0 1 3
PEX26 0 0 2 0 1 3
PEX7 0 0 1 1 1 3
PGK1 0 0 1 1 1 3
PIEZO2 0 0 3 0 0 3
RMND1 0 0 0 0 3 3
RRM2B 0 0 0 2 1 3
RYR3 0 0 3 0 0 3
SLC25A1 0 0 0 2 1 3
TK2 0 0 1 2 0 3
TTC19 0 0 2 0 1 3
TYMP 0 0 1 2 0 3
USP9X 1 0 2 0 0 3
ABCD2 0 0 1 0 1 2
ACO2, POLR3H 0 0 2 0 0 2
ACSF3 0 0 2 0 0 2
AFG3L2, TUBB6 0 0 1 0 1 2
AGK 0 0 1 1 0 2
AHNAK2 0 0 2 0 0 2
ALG8 0 1 1 0 0 2
ANKRD11 1 0 1 0 0 2
ASPM 0 0 2 0 0 2
ATP7B 2 0 0 0 0 2
BLM 0 1 1 0 0 2
CACNA1H 0 0 2 0 0 2
CACNB4 0 0 2 0 0 2
CDH23, PSAP 0 0 0 0 2 2
CHPT1, GNPTAB 0 0 1 0 1 2
CLCN1 0 0 2 0 0 2
COA5 0 0 1 1 0 2
COA6 0 0 1 0 1 2
COLQ 0 0 2 0 0 2
COQ6 0 0 1 0 1 2
COQ9 0 0 0 0 2 2
COX20, HNRNPU 0 0 0 1 1 2
COX7B 0 0 0 1 1 2
CSNK2B 0 2 0 0 0 2
CTC1 1 1 0 0 0 2
DLAT, PIH1D2 0 0 1 0 1 2
DNAJC19 0 0 0 1 1 2
DNAJC9, MRPS16 0 0 0 1 1 2
DOK7 0 0 2 0 0 2
ENPP1 1 1 0 0 0 2
ETFA 0 0 0 1 1 2
ETFB 0 0 0 0 2 2
EXT2 0 0 2 0 0 2
FBXO41 0 0 2 0 0 2
FLG 0 0 2 0 0 2
FRAS1 0 0 2 0 0 2
GAMT, NDUFS7 0 0 0 0 2 2
GBA 0 0 1 0 1 2
GEMIN5 0 0 2 0 0 2
GHR 0 0 2 0 0 2
GLB1, TMPPE 0 0 0 0 2 2
HARS2 0 0 0 2 0 2
HERC1 0 0 2 0 0 2
HERC2 0 0 2 0 0 2
HIBCH 0 0 0 0 2 2
HSPG2 0 0 2 0 0 2
IKBKB 0 0 2 0 0 2
KCNQ2 0 0 2 0 0 2
KIAA0586 1 0 1 0 0 2
KLLN, PTEN 0 0 2 0 0 2
LIAS 0 0 0 0 2 2
LOC100287042, SLC25A19 0 0 0 0 2 2
LOC113788297, NDUFAF6 0 0 1 1 0 2
LYRM4 0 0 1 0 1 2
MARS2 0 0 1 1 0 2
MASP1 0 0 2 0 0 2
MRPS22 0 0 1 1 0 2
MYH7 0 1 1 0 0 2
MYO7A 0 0 2 0 0 2
NDST1 0 0 2 0 0 2
NDUFV2 0 0 0 0 2 2
NLRC4 0 0 2 0 0 2
NPC2 0 0 0 2 0 2
NR2F1 0 1 1 0 0 2
NRXN1 0 0 2 0 0 2
PAH 2 0 0 0 0 2
PDHA1 0 0 0 1 1 2
PEX12 0 0 0 1 1 2
PEX19 0 0 0 0 2 2
PHLPP1 0 0 2 0 0 2
PIGV 1 1 0 0 0 2
PLA2G6 0 0 2 0 0 2
PMM2 1 0 1 0 0 2
PRODH 0 0 2 0 0 2
PRUNE2 0 0 2 0 0 2
PUS1 0 0 0 1 1 2
RELN 0 0 2 0 0 2
RINT1 0 0 2 0 0 2
SCN2A 0 0 2 0 0 2
SCN3A 0 0 2 0 0 2
SH3PXD2B 0 0 2 0 0 2
SLC25A19 0 0 0 1 1 2
SLC25A3 0 0 1 0 1 2
SLC25A4 0 0 1 1 0 2
SLC52A2 0 0 0 1 1 2
TACO1 0 0 0 1 1 2
TAZ 2 0 0 0 0 2
TBC1D24 0 0 2 0 0 2
THG1L 0 0 2 0 0 2
TIMM8A 0 1 0 1 0 2
TRAPPC9 0 0 2 0 0 2
XPNPEP3 0 0 1 0 1 2
AARS 0 0 1 0 0 1
ABCC8 0 0 1 0 0 1
ABCC9 0 0 1 0 0 1
ABHD14A-ACY1, ACY1 0 0 1 0 0 1
ACADM 1 0 0 0 0 1
ACADVL 0 0 1 0 0 1
ACOX2 0 0 1 0 0 1
ACP2, NR1H3 0 0 0 0 1 1
ADAR 0 1 0 0 0 1
ADSL 0 0 1 0 0 1
AGO1 0 0 1 0 0 1
AGRN 0 0 1 0 0 1
AHDC1 0 1 0 0 0 1
AHNAK 0 0 1 0 0 1
ALG12 0 0 1 0 0 1
AMACR, C1QTNF3-AMACR, SLC45A2 0 0 0 0 1 1
ANK3 0 0 1 0 0 1
AP4S1 0 0 1 0 0 1
ARHGAP35 0 0 1 0 0 1
ARSE 0 0 1 0 0 1
ASTN2, TRIM32 0 0 1 0 0 1
ASXL3 0 1 0 0 0 1
ATM, C11orf65 1 0 0 0 0 1
ATP2C2 0 0 1 0 0 1
ATP5MC3 0 0 0 0 1 1
ATP8A2 0 0 1 0 0 1
AUTS2 0 0 1 0 0 1
B3GAT3 0 0 1 0 0 1
B3GLCT 0 0 1 0 0 1
BBS1, ZDHHC24 0 0 1 0 0 1
BIN1 0 0 1 0 0 1
BMPR2 0 0 1 0 0 1
BOLA3 0 0 0 1 0 1
BTK 0 0 1 0 0 1
C12orf57 1 0 0 0 0 1
C5 0 0 1 0 0 1
CADPS 0 0 1 0 0 1
CARD11 0 0 1 0 0 1
CASQ1 0 0 1 0 0 1
CBL 1 0 0 0 0 1
CCDC103 0 0 1 0 0 1
CCDC103, GFAP 0 0 0 0 1 1
CCDC40, GAA 0 0 0 0 1 1
CCNO 0 0 1 0 0 1
CDHR1 0 0 1 0 0 1
CEP290 0 0 1 0 0 1
CFTR, LOC111674472 0 0 1 0 0 1
CHD2 1 0 0 0 0 1
CHD3 0 1 0 0 0 1
CHKB, CHKB-CPT1B 0 0 1 0 0 1
CHRNG 1 0 0 0 0 1
CHST6 0 0 1 0 0 1
CLN8 0 0 1 0 0 1
CNTN2 0 0 1 0 0 1
COL11A2 0 0 1 0 0 1
COL27A1 0 0 1 0 0 1
COL2A1 0 0 1 0 0 1
COL5A1 0 0 0 0 1 1
COL5A2 0 0 1 0 0 1
COL6A1 0 0 1 0 0 1
COL6A2 0 0 1 0 0 1
COL9A2 0 0 1 0 0 1
COX14 0 0 0 1 0 1
COX15 0 0 0 0 1 1
COX20 0 0 0 1 0 1
COX4I2 0 0 0 0 1 1
COX6B1 0 0 0 0 1 1
CTCF 0 1 0 0 0 1
CTNNB1 0 1 0 0 0 1
CTSK 0 0 0 1 0 1
DCX 0 1 0 0 0 1
DDX3X 0 1 0 0 0 1
DEPDC5 0 0 1 0 0 1
DGAT1 0 0 1 0 0 1
DMD 0 0 1 0 0 1
DNAAF1 0 0 1 0 0 1
DNAH11 0 0 1 0 0 1
DNAI2 0 0 0 1 0 1
DNM2 0 0 1 0 0 1
DNMT1 0 0 1 0 0 1
DOCK3 0 0 1 0 0 1
DPAGT1 0 0 1 0 0 1
DRC1 0 0 1 0 0 1
DUOX2 0 0 1 0 0 1
DUOXA2 1 0 0 0 0 1
DYNC1H1 0 0 1 0 0 1
DYSF 0 0 1 0 0 1
EBF3 0 0 1 0 0 1
EDNRB 0 0 1 0 0 1
ELN 0 1 0 0 0 1
ENTPD1 0 0 1 0 0 1
ERCC8, NDUFAF2 0 0 0 0 1 1
EVC 0 0 1 0 0 1
FANCA 0 0 1 0 0 1
FBXO11, MSH6 0 0 0 0 1 1
FBXW7 0 0 1 0 0 1
FGB 1 0 0 0 0 1
FGD1 0 0 1 0 0 1
FGG 1 0 0 0 0 1
FKRP 1 0 0 0 0 1
FLNA 0 0 1 0 0 1
FOXC2 0 0 1 0 0 1
GABRB3 0 0 1 0 0 1
GATAD1, PEX1 0 0 1 0 0 1
GJC2 0 0 1 0 0 1
GPR15 0 0 1 0 0 1
GRIN2A 0 0 1 0 0 1
GRIN2B 0 0 1 0 0 1
HADHB 0 0 1 0 0 1
HARS 0 1 0 0 0 1
HCFC1 0 0 1 0 0 1
HDAC6 0 0 1 0 0 1
HDAC9 0 0 1 0 0 1
HIC2 0 0 1 0 0 1
HLCS 1 0 0 0 0 1
HNRNPCL1 0 0 1 0 0 1
HPSE2 1 0 0 0 0 1
HUWE1 0 0 1 0 0 1
HYDIN 0 0 1 0 0 1
IDH2, IDH2-DT 0 0 1 0 0 1
IFIH1 0 0 1 0 0 1
IGF1R 0 0 1 0 0 1
IGLL1 0 0 1 0 0 1
INSL6, JAK2 0 0 1 0 0 1
ITGA7 0 0 1 0 0 1
KANSL1 0 1 0 0 0 1
KARS 0 0 1 0 0 1
KCNJ10 0 0 1 0 0 1
KCNK3 0 1 0 0 0 1
KCNQ3 0 0 1 0 0 1
KIF11 0 0 1 0 0 1
KIF22 0 0 1 0 0 1
KIT 0 0 1 0 0 1
KMT2B 0 1 0 0 0 1
KMT2D 0 0 1 0 0 1
KPTN 0 0 1 0 0 1
L1CAM 0 0 1 0 0 1
LAMC3 0 0 1 0 0 1
LGI1 0 0 1 0 0 1
LMNA 0 0 1 0 0 1
LOC110806263, TERT 0 0 1 0 0 1
LOC112529895, SCO1 0 0 1 0 0 1
LONP1 0 0 1 0 0 1
LOXHD1 0 0 1 0 0 1
LYRM7 0 0 0 0 1 1
MALT1 0 0 1 0 0 1
MAN1B1 0 0 1 0 0 1
MARK2 0 0 1 0 0 1
MASP2 0 0 1 0 0 1
MBD5 0 0 1 0 0 1
MCOLN1, PNPLA6 0 0 0 0 1 1
MCPH1 0 0 1 0 0 1
MED23 0 0 1 0 0 1
MEFV 0 0 1 0 0 1
MICU1 0 0 0 0 1 1
MLC1 0 0 1 0 0 1
MPV17 0 1 0 0 0 1
MUTYH, TOE1 0 0 1 0 0 1
MYO18B 0 0 1 0 0 1
NCAPH2, SCO2 0 0 0 0 1 1
NDUFA1 0 0 1 0 0 1
NDUFA12 0 0 0 1 0 1
NDUFA2, TMCO6 0 0 0 1 0 1
NDUFAF2 0 0 0 0 1 1
NDUFB3 0 0 1 0 0 1
NDUFS3 0 0 1 0 0 1
NDUFS6 0 0 0 1 0 1
NDUFS8 0 0 0 1 0 1
NEB, RIF1 0 0 1 0 0 1
NKX2-5 0 0 1 0 0 1
NLRP12 0 0 1 0 0 1
NOTCH1 0 0 1 0 0 1
NR2F2 0 1 0 0 0 1
NSD2 1 0 0 0 0 1
OPA3 0 0 0 0 1 1
ORC1 0 0 1 0 0 1
P3H2 0 0 1 0 0 1
PDP1 0 0 1 0 0 1
PEX10, PLCH2 0 0 0 1 0 1
PEX11B 0 0 0 1 0 1
PEX13 0 0 0 1 0 1
PGAP3 0 0 1 0 0 1
PHKG2 0 0 0 1 0 1
PIGN 0 0 1 0 0 1
PIGT 0 0 1 0 0 1
PIH1D3 0 0 1 0 0 1
PITPNM3 0 0 1 0 0 1
PKHD1 0 0 1 0 0 1
PLEC 0 0 1 0 0 1
PLP1, RAB9B 0 1 0 0 0 1
PNKP 0 0 1 0 0 1
PNPLA6 0 0 1 0 0 1
PRX 0 0 1 0 0 1
PTCH1 0 0 1 0 0 1
PTX3, VEPH1 0 0 1 0 0 1
RAPSN 0 0 1 0 0 1
RARS2, SLC35A1 0 0 0 0 1 1
RBM20 0 0 1 0 0 1
RFT1 0 0 1 0 0 1
ROR2 0 0 1 0 0 1
RPS6KA3 0 0 1 0 0 1
RYR1 0 0 1 0 0 1
RYR2 0 0 1 0 0 1
SCN8A 0 0 1 0 0 1
SDHAF1 0 0 0 0 1 1
SELENON 1 0 0 0 0 1
SLC22A5 0 0 1 0 0 1
SLC25A15 0 0 1 0 0 1
SLC26A2 0 0 1 0 0 1
SLC2A1 0 0 1 0 0 1
SLC34A3 0 1 0 0 0 1
SLC6A13 0 0 1 0 0 1
SLC6A3 0 0 1 0 0 1
SLC9A3 0 0 1 0 0 1
SMC1A 0 1 0 0 0 1
SON 1 0 0 0 0 1
SPG7 1 0 0 0 0 1
SPTA1 0 0 1 0 0 1
SPTBN2 0 0 1 0 0 1
SRCAP 0 0 1 0 0 1
SYNE1 0 0 1 0 0 1
SYNGAP1 0 1 0 0 0 1
TBX4 1 0 0 0 0 1
TCAP 0 0 1 0 0 1
TCF4 1 0 0 0 0 1
TGFBR2 0 0 1 0 0 1
THAP1 0 1 0 0 0 1
TNFRSF11A 1 0 0 0 0 1
TPK1 0 0 0 0 1 1
TRIOBP 0 0 1 0 0 1
TSC2 0 0 1 0 0 1
TTC7A 0 0 1 0 0 1
TUBA1A 0 1 0 0 0 1
TUFM 0 0 0 1 0 1
TUSC3 0 0 1 0 0 1
UPF3B 0 0 1 0 0 1
UQCRB 0 0 0 1 0 1
UQCRQ 0 0 0 1 0 1
USH1G 1 0 0 0 0 1
USH2A 1 0 0 0 0 1
VAV1 0 0 1 0 0 1
VPS13B 0 1 0 0 0 1
VPS13C 0 0 1 0 0 1
VWF 1 0 0 0 0 1
WDR81 0 0 1 0 0 1
ZBTB18 1 0 0 0 0 1
ZC4H2 1 0 0 0 0 1
ZFYVE26 0 0 1 0 0 1
ZNF148 0 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 293
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 269 172 386 597 1222 2646
not specified 0 0 154 127 182 462
Nemaline myopathy 2 0 0 6 0 0 6
Ciliary dyskinesia, primary, 3 1 0 3 0 0 4
Adrenoleukodystrophy 0 0 3 0 0 3
Arthrogryposis, distal, with impaired proprioception and touch 0 0 3 0 0 3
Common variable immunodeficiency 8, with autoimmunity 0 0 3 0 0 3
Deficiency of alpha-mannosidase 0 0 3 0 0 3
Limb-girdle muscular dystrophy, type 2J 0 0 3 0 0 3
Merosin deficient congenital muscular dystrophy 0 0 3 0 0 3
Primary autosomal recessive microcephaly 3 0 0 3 0 0 3
Spastic paraplegia 35 0 0 3 0 0 3
3-Methylglutaconic aciduria type 1 0 0 2 0 0 2
Afibrinogenemia, congenital 2 0 0 0 0 2
Arterial calcification of infancy; Hypophosphatemic rickets, autosomal recessive, 2 1 1 0 0 0 2
Autoinflammation with infantile enterocolitis; Familial cold autoinflammatory syndrome 4 0 0 2 0 0 2
Benign familial neonatal seizures 1; Early infantile epileptic encephalopathy 7 0 0 2 0 0 2
Benign familial neonatal-infantile seizures; Early infantile epileptic encephalopathy 11 0 0 2 0 0 2
Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1 0 0 2 0 0 2
Bloom syndrome 0 1 1 0 0 2
Bosch-Boonstra-Schaaf optic atrophy syndrome 0 1 1 0 0 2
Carbohydrate-deficient glycoprotein syndrome type I 1 0 1 0 0 2
Cerebroretinal microangiopathy with calcifications and cysts 1 1 1 0 0 0 2
Combined malonic and methylmalonic aciduria 0 0 2 0 0 2
Combined oxidative phosphorylation deficiency 10 0 0 2 0 0 2
Congenital disorder of glycosylation type 1H 0 1 1 0 0 2
Congenital myotonia, autosomal recessive form 0 0 2 0 0 2
Cryptophthalmos syndrome 0 0 2 0 0 2
Dermatitis, atopic, 2; Ichthyosis vulgaris 0 0 2 0 0 2
Dilated cardiomyopathy 1S 0 1 1 0 0 2
Ehlers-Danlos syndrome, classic type 0 0 1 0 1 2
Endplate acetylcholinesterase deficiency 0 0 2 0 0 2
Epilepsy, childhood absence 6 0 0 2 0 0 2
Episodic ataxia type 2 1 0 1 0 0 2
Familial infantile myasthenia 0 1 1 0 0 2
Frank Ter Haar syndrome 0 0 2 0 0 2
Glycogen storage disease, type II 1 0 1 0 0 2
Hyperphosphatasia with mental retardation syndrome 1 1 1 0 0 0 2
Immunodeficiency 15 0 0 2 0 0 2
Infantile cerebellar-retinal degeneration 0 0 2 0 0 2
Joubert syndrome 23 1 0 1 0 0 2
KBG syndrome 1 0 1 0 0 2
Macrocephaly, dysmorphic facies, and psychomotor retardation 0 0 2 0 0 2
Mental retardation, X-linked 99 0 0 2 0 0 2
Mental retardation, autosomal recessive 13 0 0 2 0 0 2
Mental retardation, autosomal recessive 38 0 0 2 0 0 2
Mental retardation, autosomal recessive 46 0 0 2 0 0 2
Mitochondrial complex I deficiency 0 1 1 0 0 2
Muscle AMP deaminase deficiency 0 0 2 0 0 2
Myasthenia, limb-girdle, familial 0 0 2 0 0 2
Niemann-Pick disease type C1 1 1 0 0 0 2
Peroxisome biogenesis disorder 5a (zellweger); Peroxisome biogenesis disorder 5B 0 0 2 0 0 2
Phenylketonuria 2 0 0 0 0 2
Polyglucosan body disease, adult; Glycogen storage disease, type IV 1 0 1 0 0 2
Primary autosomal recessive microcephaly 5 0 0 2 0 0 2
Progressive sclerosing poliodystrophy; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Mitochondrial DNA depletion syndrome 4B, MNGIE type 0 0 2 0 0 2
Proline dehydrogenase deficiency 0 0 2 0 0 2
Pyruvate dehydrogenase E2 deficiency 0 0 2 0 0 2
Rett syndrome 1 1 0 0 0 2
Schwartz Jampel syndrome type 1 0 0 2 0 0 2
Seizures, scoliosis, and macrocephaly syndrome 0 0 2 0 0 2
Wilson disease 2 0 0 0 0 2
4p partial monosomy syndrome 1 0 0 0 0 1
ALG12-congenital disorder of glycosylation 0 0 1 0 0 1
Aarskog syndrome 0 0 1 0 0 1
Achondrogenesis, type II; Avascular necrosis of the head of femur; Epiphyseal dysplasia, multiple, with myopia and conductive deafness; Coxa plana; Kniest dysplasia; Osteoarthritis with mild chondrodysplasia; Spondyloperipheral dysplasia; Stickler syndrome type 1; Platyspondylic lethal skeletal dysplasia Torrance type; Spondylometaphyseal dysplasia; Spondyloepiphyseal dysplasia; Czech dysplasia metatarsal type; Stickler syndrome, type I, nonsyndromic ocular; Multiple epiphyseal dysplasia 6; Stickler syndrome, type 4; Spondyloepiphyseal dysplasia, stanescu type 0 0 1 0 0 1
Adams-Oliver syndrome 5 0 0 1 0 0 1
Adenylosuccinate lyase deficiency 0 0 1 0 0 1
Agammaglobulinemia 2, autosomal recessive 0 0 1 0 0 1
Aminoacylase 1 deficiency 0 0 1 0 0 1
Arrhythmogenic right ventricular dysplasia, familial, 2; Catecholaminergic polymorphic ventricular tachycardia type 1 0 0 1 0 0 1
Aspartylglucosaminuria 0 0 1 0 0 1
Ataxia-telangiectasia syndrome 1 0 0 0 0 1
Atrial septal defect 7 with or without atrioventricular conduction defects; Ventricular septal defect 3 0 0 1 0 0 1
Autosomal recessive centronuclear myopathy 0 0 1 0 0 1
Autosomal recessive hypophosphatemic bone disease 0 1 0 0 0 1
Autosomal recessive polycystic kidney disease 0 0 1 0 0 1
Bainbridge-Ropers syndrome 0 1 0 0 0 1
Bardet-Biedl syndrome 1 0 0 1 0 0 1
Benign familial neonatal seizures 2 0 0 1 0 0 1
Bile acid synthesis defect, congenital, 6 0 0 1 0 0 1
Biotin-thiamine-responsive basal ganglia disease 1 0 0 0 0 1
Boucher Neuhauser syndrome; Laurence-Moon syndrome; Spastic paraplegia 39; Trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina 0 0 1 0 0 1
CODAS syndrome 0 0 1 0 0 1
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant; Hereditary sensory neuropathy type IE 0 0 1 0 0 1
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 0 0 1 0 0 1
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 0 0 1 0 0 1
Charcot-Marie-Tooth disease type 2D; Distal hereditary motor neuronopathy type 5 0 0 1 0 0 1
Charcot-Marie-Tooth disease, dominant intermediate B; Myopathy, centronuclear, 1; Lethal congenital contracture syndrome 5 0 0 1 0 0 1
Chondrodysplasia punctata 1, X-linked recessive 0 0 1 0 0 1
Chondroectodermal dysplasia; Curry-Hall syndrome 0 0 1 0 0 1
Ciliary dyskinesia, primary, 13 0 0 1 0 0 1
Ciliary dyskinesia, primary, 17 0 0 1 0 0 1
Ciliary dyskinesia, primary, 21 0 0 1 0 0 1
Ciliary dyskinesia, primary, 29 0 0 1 0 0 1
Ciliary dyskinesia, primary, 36, X-linked 0 0 1 0 0 1
Ciliary dyskinesia, primary, 5 0 0 1 0 0 1
Ciliary dyskinesia, primary, 7 0 0 1 0 0 1
Ciliary dyskinesia, primary, 9 0 0 0 1 0 1
Coenzyme Q10 deficiency, primary, 4 0 0 1 0 0 1
Coffin-Lowry syndrome; Mental retardation, X-linked 19 0 0 1 0 0 1
Cohen syndrome 0 1 0 0 0 1
Combined oxidative phosphorylation deficiency 15 0 0 1 0 0 1
Combined oxidative phosphorylation deficiency 19 0 0 1 0 0 1
Combined oxidative phosphorylation deficiency 7; Spastic paraplegia 55, autosomal recessive 0 0 1 0 0 1
Cone-rod dystrophy 15 0 0 1 0 0 1
Cone-rod dystrophy 5 0 0 1 0 0 1
Congenital disorder of glycosylation type 1J; Congenital myasthenic syndrome 13 0 0 1 0 0 1
Congenital disorder of glycosylation type 1N 0 0 1 0 0 1
Congenital heart defects, multiple types, 4 0 1 0 0 0 1
Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5; Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 1 0 0 0 0 1
Congenital muscular hypertrophy-cerebral syndrome 0 1 0 0 0 1
Cortical malformations, occipital 0 0 1 0 0 1
Cutis laxa, autosomal dominant 1; Supravalvar aortic stenosis 0 1 0 0 0 1
Cystic fibrosis 0 0 1 0 0 1
Deafness, autosomal dominant 11 0 0 1 0 0 1
Deafness, autosomal dominant 11; Deafness, autosomal recessive 2; Usher syndrome, type 1 0 0 1 0 0 1
Deafness, autosomal recessive 28 0 0 1 0 0 1
Deafness, autosomal recessive 77 0 0 1 0 0 1
Dejerine-Sottas disease; Charcot-Marie-Tooth disease, demyelinating, type 4f 0 0 1 0 0 1
Diarrhea 7 0 0 1 0 0 1
Diarrhea 8, secretory sodium, congenital 0 0 1 0 0 1
Dilated cardiomyopathy 1DD 0 0 1 0 0 1
Dilated cardiomyopathy 1G 0 0 1 0 0 1
Dilated cardiomyopathy 1O 0 0 1 0 0 1
Dilated cardiomyopathy 3B 0 0 1 0 0 1
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome; Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2B1; Benign scapuloperoneal muscular dystrophy with cardiomyopathy; Heart-hand syndrome, Slovenian type; Hutchinson-Gilford syndrome; Familial partial lipodystrophy 2; Mandibuloacral dysostosis; Limb-girdle muscular dystrophy, type 1B; Lethal tight skin contracture syndrome; Congenital muscular dystrophy, LMNA-related; Emery-Dreifuss muscular dystrophy 3, autosomal recessive 0 0 1 0 0 1
Distichiasis-lymphedema syndrome 0 0 1 0 0 1
Dyskeratosis congenita, autosomal dominant, 2 0 0 1 0 0 1
Dystonia 28, childhood-onset 0 1 0 0 0 1
Dystonia 6, torsion 0 1 0 0 0 1
Early infantile epileptic encephalopathy 10; Ataxia-oculomotor apraxia 4 0 0 1 0 0 1
Early infantile epileptic encephalopathy 13; Seizures, benign familial infantile, 5 0 0 1 0 0 1
Early infantile epileptic encephalopathy 16 0 0 1 0 0 1
Eichsfeld type congenital muscular dystrophy; Congenital myopathy with fiber type disproportion 1 0 0 0 0 1
Enlarged vestibular aqueduct; SeSAME syndrome 0 0 1 0 0 1
Epilepsy, childhood absence 5 0 0 1 0 0 1
Epilepsy, familial adult myoclonic, 5 0 0 1 0 0 1
Epilepsy, familial focal, with variable foci 1 0 0 1 0 0 1
Epilepsy, familial temporal lobe, 7 0 0 1 0 0 1
Epilepsy, focal, with speech disorder and with or without mental retardation 0 0 1 0 0 1
Epilepsy, idiopathic generalized 9 0 0 1 0 0 1
Epilepsy, idiopathic generalized 9; Episodic ataxia, type 5 0 0 1 0 0 1
Epilepsy, idiopathic generalized, susceptibility to, 12 0 0 1 0 0 1
Epilepsy, lateral temporal lobe, autosomal dominant 0 0 1 0 0 1
Epileptic encephalopathy, childhood-onset 1 0 0 0 0 1
Epileptic encephalopathy, early infantile, 29 0 0 1 0 0 1
Epileptic encephalopathy, early infantile, 42 0 0 0 1 0 1
Familial Mediterranean fever 0 0 1 0 0 1
Familial cold autoinflammatory syndrome 2 0 0 1 0 0 1
Fanconi anemia, complementation group A 0 0 1 0 0 1
Floating-Harbor syndrome 0 0 1 0 0 1
GM1 gangliosidosis type 2; Gangliosidosis GM1 type 3; Infantile GM1 gangliosidosis 0 0 1 0 0 1
Galactosylceramide beta-galactosidase deficiency 0 0 1 0 0 1
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 0 1 0 0 0 1
Glutaric aciduria, type 2 0 0 1 0 0 1
Glycogen storage disease, type IV 0 0 1 0 0 1
Gorlin syndrome 0 0 1 0 0 1
Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency 0 0 1 0 0 1
Holocarboxylase synthetase deficiency 1 0 0 0 0 1
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 0 0 1 0 0 1
Hyperphosphatasia with mental retardation syndrome 4 0 0 1 0 0 1
Hypotonia, ataxia, and delayed development syndrome 0 0 1 0 0 1
Immunodeficiency 11; B-cell expansion with NFKB and T-cell anergy; IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS 0 0 1 0 0 1
Immunodeficiency 12 0 0 1 0 0 1
Infantile GM1 gangliosidosis 0 0 1 0 0 1
Infantile Parkinsonism-dystonia 0 0 1 0 0 1
Infantile neuroaxonal dystrophy 0 0 1 0 0 1
Infantile neuroaxonal dystrophy; Neurodegeneration with brain iron accumulation 2b; Parkinson disease 14 0 0 1 0 0 1
Insulin-like growth factor 1 resistance to 0 0 1 0 0 1
Joubert syndrome 5 0 0 1 0 0 1
Juvenile myelomonocytic leukemia; Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 1 0 0 0 0 1
Kabuki syndrome 1 0 0 1 0 0 1
Kanzaki disease; Schindler disease, type 1 1 0 0 0 0 1
Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism 0 0 1 0 0 1
Koolen-de Vries syndrome 0 1 0 0 0 1
Laron-type isolated somatotropin defect; Short stature, idiopathic, autosomal 0 0 1 0 0 1
Leiner disease 0 0 1 0 0 1
Leukodystrophy, hypomyelinating, 2 0 0 1 0 0 1
Limb-girdle muscular dystrophy, type 2G; Dilated cardiomyopathy 1N 0 0 1 0 0 1
Limb-girdle muscular dystrophy, type 2J; Distal myopathy Markesbery-Griggs type; Hereditary myopathy with early respiratory failure 0 0 1 0 0 1
Limb-girdle muscular dystrophy, type 2Q 0 0 1 0 0 1
Lissencephaly 2; Epilepsy, familial temporal lobe, 7 0 0 1 0 0 1
Lissencephaly 3 0 1 0 0 0 1
Lissencephaly, X-linked 0 1 0 0 0 1
Loeys-Dietz syndrome 2 0 0 1 0 0 1
MASP2 deficiency 0 0 1 0 0 1
Macular corneal dystrophy Type I 0 0 1 0 0 1
Mastocytosis 0 0 1 0 0 1
Medium-chain acyl-coenzyme A dehydrogenase deficiency 1 0 0 0 0 1
Megalencephalic leukoencephalopathy with subcortical cysts 1 0 0 1 0 0 1
Meier-Gorlin syndrome 1 0 0 1 0 0 1
Mental retardation 3, X-linked 0 0 1 0 0 1
Mental retardation, X-linked 102 0 1 0 0 0 1
Mental retardation, X-linked 99, syndromic, female-restricted 1 0 0 0 0 1
Mental retardation, X-linked, syndromic 13 1 0 0 0 0 1
Mental retardation, X-linked, syndromic, Turner type 0 0 1 0 0 1
Mental retardation, autosomal dominant 1 0 0 1 0 0 1
Mental retardation, autosomal dominant 19 0 1 0 0 0 1
Mental retardation, autosomal dominant 21 0 1 0 0 0 1
Mental retardation, autosomal dominant 22 1 0 0 0 0 1
Mental retardation, autosomal dominant 26 0 0 1 0 0 1
Mental retardation, autosomal dominant 5 0 1 0 0 0 1
Mental retardation, autosomal dominant 6; Epileptic encephalopathy, early infantile, 27 0 0 1 0 0 1
Mental retardation, autosomal recessive 15 0 0 1 0 0 1
Mental retardation, autosomal recessive 18 0 0 1 0 0 1
Mental retardation, autosomal recessive 37 0 0 1 0 0 1
Mental retardation, autosomal recessive 7 0 0 1 0 0 1
Mental retardation, syndromic 14, X-linked 0 0 1 0 0 1
Michels syndrome 0 0 1 0 0 1
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 0 0 1 0 0 1
Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive 0 0 1 0 0 1
Mitochondrial DNA depletion syndrome 2 0 0 1 0 0 1
Mitochondrial DNA-depletion syndrome 3, hepatocerebral 0 0 1 0 0 1
Mitochondrial complex I deficiency; Leigh syndrome 0 0 1 0 0 1
Mitochondrial complex III deficiency, nuclear type 2 0 0 1 0 0 1
Mitochondrial trifunctional protein deficiency 0 0 1 0 0 1
Miyoshi muscular dystrophy 1; Limb-girdle muscular dystrophy, type 2B; Myopathy, distal, with anterior tibial onset 0 0 1 0 0 1
Mucopolysaccharidosis type VI 0 0 1 0 0 1
Mucopolysaccharidosis, MPS-III-A 1 0 0 0 0 1
Multiple congenital anomalies-hypotonia-seizures syndrome 1 0 0 1 0 0 1
Multiple congenital anomalies-hypotonia-seizures syndrome 3; Paroxysmal nocturnal hemoglobinuria 2 0 0 1 0 0 1
Multiple epiphyseal dysplasia 2; Stickler syndrome, type 5 0 0 1 0 0 1
Multiple epiphyseal dysplasia 4 0 0 1 0 0 1
Multiple gastrointestinal atresias 0 0 1 0 0 1
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects 0 0 1 0 0 1
Multiple pterygium syndrome Escobar type; Lethal multiple pterygium syndrome 1 0 0 0 0 1
Muscular dystrophy, congenital, due to integrin alpha-7 deficiency 0 0 1 0 0 1
Muscular dystrophy, congenital, megaconial type 0 0 1 0 0 1
Myasthenic syndrome, congenital, 8 0 0 1 0 0 1
Myoclonic epilepsy, familial infantile; Early infantile epileptic encephalopathy 16 0 0 1 0 0 1
Myopathy, Central Core 0 0 1 0 0 1
Myopathy, vacuolar, with casq1 aggregates 0 0 1 0 0 1
Myopia, high, with cataract and vitreoretinal degeneration 0 0 1 0 0 1
Navajo neurohepatopathy 0 1 0 0 0 1
Neonatal adrenoleucodystrophy; Peroxisome biogenesis disorder 2A (Zellweger); Rhizomelic chondrodysplasia punctata type 5 0 0 1 0 0 1
Ochoa syndrome 1 0 0 0 0 1
Paget disease of bone 2, early-onset; Familial expansile osteolysis 1 0 0 0 0 1
Parkinson disease 23, autosomal recessive early-onset 0 0 1 0 0 1
Pelizaeus-Merzbacher disease; Spastic paraplegia 2 0 1 0 0 0 1
Pena-Shokeir syndrome type I; Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency 0 0 1 0 0 1
Periventricular nodular heterotopia 1 0 0 1 0 0 1
Peroxisome biogenesis disorder 1A (Zellweger); Deafness enamel hypoplasia nail defects; Peroxisome biogenesis disorder 1B 0 0 1 0 0 1
Peroxisome biogenesis disorder 1B 0 0 1 0 0 1
Peroxisome biogenesis disorder 7B 0 0 1 0 0 1
Persistent hyperinsulinemic hypoglycemia of infancy 0 0 1 0 0 1
Peters plus syndrome 0 0 1 0 0 1
Phosphoglycerate kinase 1 deficiency 0 0 1 0 0 1
Phytanic acid storage disease 0 1 0 0 0 1
Pigmentary pallidal degeneration 1 0 0 0 0 1
Pitt-Hopkins syndrome; Corneal dystrophy, Fuchs endothelial, 3 1 0 0 0 0 1
Pitt-Hopkins-like syndrome 2 0 0 1 0 0 1
Primary autosomal recessive microcephaly 1 0 0 1 0 0 1
Primary pulmonary hypertension 4 0 1 0 0 0 1
Progressive sclerosing poliodystrophy 1 0 0 0 0 1
Pseudoneonatal adrenoleukodystrophy 0 0 1 0 0 1
Renal carnitine transport defect 0 0 1 0 0 1
Robinow syndrome, autosomal recessive 0 0 1 0 0 1
Rokitansky Kuster Hauser syndrome 0 0 1 0 0 1
Sarcotubular myopathy; Bardet-Biedl syndrome 11 0 0 1 0 0 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 1 0 0 0 0 1
Short stature, idiopathic, autosomal 0 0 1 0 0 1
Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 0 0 1 0 0 1
Spastic ataxia Charlevoix-Saguenay type 0 0 1 0 0 1
Spastic paraplegia 1 0 0 1 0 0 1
Spastic paraplegia 15 0 0 1 0 0