ClinVar Miner

Variants from Clinical Genetics and Genomics, Karolinska University Hospital

Location: Sweden  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
761 390 33 2 0 1184

Gene and significance breakdown #

Total genes and gene combinations: 394
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
BRCA2 82 0 0 0 82
BRCA1 42 5 0 0 47
TP53 20 22 3 1 46
MEN1 25 4 1 0 30
FBN1 14 12 1 0 27
CYP21A2, LOC106780800 17 9 0 0 26
APC 24 0 0 0 24
AR 14 8 0 0 22
MSH2 18 3 0 0 21
COL2A1 10 9 1 0 20
CFTR 17 2 0 0 19
HBB, LOC106099062, LOC107133510 18 1 0 0 19
CEBPA 10 6 0 0 16
COL1A1 12 3 1 0 16
MLH1 15 1 0 0 16
MSH6 16 0 0 0 16
BRCA1, LOC126862571 14 0 0 0 14
RET 13 1 0 0 14
FLCN 12 1 0 0 13
DYNC2H1 6 6 0 0 12
FGFR3 11 1 0 0 12
DNAH5 8 3 0 0 11
GALC 4 6 0 0 10
MEFV 3 3 4 0 10
ARID1B 8 1 0 0 9
COL1A2 7 2 0 0 9
MECP2 7 2 0 0 9
SRD5A2 4 5 0 0 9
LOC126862264, MEFV 7 1 0 0 8
RYR1 0 8 0 0 8
BTK 7 0 0 0 7
CHD7 4 3 0 0 7
CSF3R 6 1 0 0 7
GJB2 6 1 0 0 7
MUTYH 5 2 0 0 7
KMT2A 6 0 0 0 6
ANKRD11 2 3 0 0 5
CASR 1 4 0 0 5
DNAH11 2 1 2 0 5
ELANE 3 2 0 0 5
GNAS 0 5 0 0 5
PALB2 5 0 0 0 5
PAPSS2 5 0 0 0 5
PAX6 5 0 0 0 5
PTEN 3 2 0 0 5
TCF4 3 2 0 0 5
TTN 1 4 0 0 5
CHEK2 2 2 0 0 4
COL10A1, NT5DC1 1 2 1 0 4
CPLANE1 2 2 0 0 4
DNMT3A 0 4 0 0 4
EXT1 2 2 0 0 4
KIT 4 0 0 0 4
NF1 3 1 0 0 4
NIPBL 3 1 0 0 4
PMS2 3 1 0 0 4
SGCA 2 2 0 0 4
SHOX 2 2 0 0 4
TRPV4 3 1 0 0 4
BMPER 2 1 0 0 3
CAPN3 2 1 0 0 3
CDH1 3 0 0 0 3
CDKN1C 2 1 0 0 3
COL3A1 2 1 0 0 3
DOK7 2 1 0 0 3
FOXF1 2 1 0 0 3
GRIN2B 1 2 0 0 3
HBB, LOC107133510, LOC110006319 3 0 0 0 3
KMT2D 2 1 0 0 3
KMT5B 1 2 0 0 3
LOC107303340, VHL 1 2 0 0 3
NR5A1 1 2 0 0 3
PLOD2 1 2 0 0 3
POU3F4 3 0 0 0 3
SACS 0 1 2 0 3
SATB2 2 1 0 0 3
SIN3A 2 1 0 0 3
SOX9 3 0 0 0 3
SYNGAP1 1 2 0 0 3
TRPS1 3 0 0 0 3
TTR 3 0 0 0 3
ZBTB18 2 1 0 0 3
ACAN 1 0 1 0 2
ADAMTSL2 0 1 1 0 2
ALG3 2 0 0 0 2
ALPL 1 1 0 0 2
ANO10 0 2 0 0 2
ASPM 2 0 0 0 2
ASXL3 0 2 0 0 2
BBS12 0 2 0 0 2
BBS7 2 0 0 0 2
BMPR1A 1 1 0 0 2
BRAF 2 0 0 0 2
BRAT1 0 2 0 0 2
CAPN1 0 2 0 0 2
CC2D2A 2 0 0 0 2
CCNO 1 1 0 0 2
CDC73 2 0 0 0 2
CDKL5 2 0 0 0 2
CEP290 1 0 0 1 2
CEP83 1 1 0 0 2
CFTR, LOC111674472 0 2 0 0 2
CNGB3 2 0 0 0 2
COL11A2 1 1 0 0 2
COL6A3 0 2 0 0 2
COL9A2 1 1 0 0 2
COMP 1 1 0 0 2
CREBBP 1 0 1 0 2
CRTAP 1 1 0 0 2
CSNK2A1 1 1 0 0 2
CTCF 0 2 0 0 2
CYP21A2, LOC106780800, TNXB 2 0 0 0 2
DDX3X 2 0 0 0 2
DHCR7 1 1 0 0 2
DNAAF4, DNAAF4-CCPG1 1 1 0 0 2
EFTUD2 0 2 0 0 2
GLA, RPL36A-HNRNPH2 0 2 0 0 2
GNPTG 2 0 0 0 2
HAX1 1 1 0 0 2
HNRNPU 1 1 0 0 2
IDH1 2 0 0 0 2
KAT6A 1 1 0 0 2
KIAA0586 2 0 0 0 2
KIAA0753 1 1 0 0 2
LAMA2 2 0 0 0 2
LMNA 0 2 0 0 2
MKKS 0 2 0 0 2
PLS3 0 2 0 0 2
PNKP 0 2 0 0 2
PRF1 2 0 0 0 2
PTPN11 0 2 0 0 2
PYGM 1 1 0 0 2
RAB3GAP2 2 0 0 0 2
RIT1 1 1 0 0 2
RSPH9 1 1 0 0 2
SCN5A 0 2 0 0 2
SDHA 0 2 0 0 2
SEC24D 1 1 0 0 2
SETD5 2 0 0 0 2
SHANK3 1 1 0 0 2
SPG7 1 1 0 0 2
SPNS1 0 0 2 0 2
STX11 2 0 0 0 2
TBCEL-TECTA, TECTA 0 2 0 0 2
TBCK 2 0 0 0 2
TBL1XR1 0 2 0 0 2
TUBB3 0 2 0 0 2
UNC13D 2 0 0 0 2
WRAP53 0 2 0 0 2
ZMYND10 2 0 0 0 2
AARS1 0 1 0 0 1
ABCA4 0 1 0 0 1
ABCG5, DYNC2LI1 0 1 0 0 1
ACTA2 0 1 0 0 1
ACTB 0 1 0 0 1
ADAMTSL4 1 0 0 0 1
ADNP 0 1 0 0 1
ADSL 0 1 0 0 1
AFG3L2 1 0 0 0 1
ALG12 0 1 0 0 1
ALG9 1 0 0 0 1
AMER1 1 0 0 0 1
ANK3 1 1 0 0 1
ANO5 1 0 0 0 1
AR, LOC109504725 1 0 0 0 1
ARID2 1 0 0 0 1
ARMC5 1 0 0 0 1
ASAH1 0 1 0 0 1
ATM 1 0 0 0 1
ATM, C11orf65 1 0 0 0 1
ATP1A3 1 0 0 0 1
ATP2A2 0 1 0 0 1
B9D1 1 0 0 0 1
BBS10 1 0 0 0 1
BBS9 1 0 0 0 1
BCL11B 0 1 0 0 1
BEST1 1 0 0 0 1
BLOC1S1-RDH5, CD63, RDH5 1 0 0 0 1
BMPR1B 0 1 0 0 1
BRD4 0 1 0 0 1
CACNA1E 0 1 0 0 1
CALHM4, CALHM5, CALHM6, COL10A1, DSE, FAM162B, FRK, GPRC6A, KPNA5, NT5DC1, RFX6, RSPH4A, RWDD1, TRAPPC3L, TSPYL1, TSPYL4, ZUP1 1 0 0 0 1
CAPN1, LOC126861236 0 1 0 0 1
CCDC39, TTC14 1 0 0 0 1
CCNO, LOC129993895 1 0 0 0 1
CEBPA, LOC130064183 1 0 0 0 1
CEP120 0 0 1 0 1
CEP78 1 0 0 0 1
CFAP410 1 0 0 0 1
CFTR, LOC111674477 0 0 1 0 1
CFTR, LOC113664106 1 0 0 0 1
CHRDL1 1 0 0 0 1
CHRNG 0 1 0 0 1
CHST3 0 1 0 0 1
CLCN1 0 1 0 0 1
CLCN7 1 0 0 0 1
CLN5 0 1 0 0 1
CNNM2, NT5C2 0 1 0 0 1
COG4 0 1 0 0 1
COL18A1, SLC19A1 0 1 0 0 1
COL1A1, LOC126862586 0 1 0 0 1
COL4A3, COL4A4, LOC129935730 0 1 0 0 1
COL5A1 1 0 0 0 1
COL6A2 1 0 0 0 1
COQ2 0 1 0 0 1
CTNNB1 1 0 0 0 1
CUL3 0 1 0 0 1
CXCR4 1 0 0 0 1
CYP11A1 1 0 0 0 1
CYP11B1, LOC106799833 1 0 0 0 1
CYP2U1 0 1 0 0 1
CYP7B1 1 0 0 0 1
DCC 1 0 0 0 1
DCTN5, PALB2 1 0 0 0 1
DEAF1 0 1 0 0 1
DLG3 0 1 0 0 1
DNAAF1 0 1 0 0 1
DNAAF11 1 0 0 0 1
DNAAF2 0 1 0 0 1
DNAH1 1 0 0 0 1
DNAI1 0 1 0 0 1
DNAJB11 1 0 0 0 1
DNAJC3 1 0 0 0 1
DSP 0 1 0 0 1
DVL3 0 1 0 0 1
DYNC1H1 0 1 0 0 1
DYNC2LI1 0 1 0 0 1
DYRK1A 1 0 0 0 1
DYSF 1 0 0 0 1
EBP 1 0 0 0 1
EIF2S3 1 0 0 0 1
ELN 1 0 0 0 1
ELP4, PAX6 0 1 0 0 1
ENG 1 0 0 0 1
EXOSC3 1 0 0 0 1
EXT2 1 0 0 0 1
EYS 1 0 0 0 1
FAM111A, LOC130005740 0 1 0 0 1
FBLN5 0 1 0 0 1
FBXW7 0 1 0 0 1
FGF14 0 1 0 0 1
FGFR1 0 1 0 0 1
FKRP 0 1 0 0 1
FLNA 0 1 0 0 1
FLNB 1 0 0 0 1
FOXL2 0 1 0 0 1
FOXP1 1 0 0 0 1
FSHR 0 1 0 0 1
GABBR1 0 1 0 0 1
GABRA1 0 0 1 0 1
GATAD2B 1 0 0 0 1
GDAP1 0 1 0 0 1
GFPT1 1 0 0 0 1
GJA1 0 1 0 0 1
GNAI3 0 1 0 0 1
GNB1 1 0 0 0 1
GPC3 0 1 0 0 1
GREB1L 0 1 0 0 1
GRIA1 0 1 0 0 1
GRIN2A 1 0 0 0 1
H3-3A 0 1 0 0 1
HBA1, HBA2, HBM, HBQ1, HBZ 1 0 0 0 1
HDAC8 0 1 0 0 1
HIF1A 1 0 0 0 1
HMGA2 1 0 0 0 1
HNF1B 0 1 0 0 1
HRAS, LRRC56 1 0 0 0 1
HUWE1 0 1 0 0 1
HYDIN 1 0 0 0 1
IFITM5 1 0 0 0 1
IFITM5, PGGHG 1 0 0 0 1
IFT43 0 1 0 0 1
IGHMBP2 0 1 0 0 1
IHH 1 0 0 0 1
IL6ST 1 0 0 0 1
INPPL1 0 0 1 0 1
IQSEC2 0 1 0 0 1
IRAK1BP1, PHIP 0 1 0 0 1
KANSL1 0 1 0 0 1
KIF1A 0 1 0 0 1
KIF22 0 1 0 0 1
KIF7 1 0 0 0 1
KMT2D, LOC126861520 1 0 0 0 1
L1CAM 0 1 0 0 1
LAMA1 0 1 0 0 1
LBR 0 0 1 0 1
LIG4 0 0 1 0 1
LIPA 1 0 0 0 1
LMX1B 1 0 0 0 1
LOC102724058, SCN1A 0 1 0 0 1
LOC121725182, SEC24D 0 0 1 0 1
LOC126806878, TBL1XR1 0 1 0 0 1
LOC129389144, PLOD2 0 1 0 0 1
LOC129992585, SGCB 1 0 0 0 1
LOX, SRFBP1 1 0 0 0 1
LOXHD1 0 1 0 0 1
LRP2 0 1 0 0 1
LRP5 0 1 0 0 1
LRP6 0 1 0 0 1
LTBP3 1 0 0 0 1
LZTR1 0 1 0 0 1
MALL, NPHP1 1 0 0 0 1
MAMLD1 1 0 0 0 1
MAN1B1 0 1 0 0 1
MAP3K1 0 1 0 0 1
MATN3 0 1 0 0 1
MCFD2, TTC7A 1 0 0 0 1
MCM2 0 1 0 0 1
MEGF10 1 0 0 0 1
MKS1 1 0 0 0 1
MME 0 1 0 0 1
MTMR2 0 1 0 0 1
MYL2 0 0 1 0 1
MYO15A 0 1 0 0 1
MYO6 0 1 0 0 1
MYO7A 0 1 0 0 1
MYT1L 0 1 0 0 1
NBEA 0 1 0 0 1
NEFH 0 1 0 0 1
NFIX 1 0 0 0 1
NKAP 0 0 1 0 1
NPC1 0 1 0 0 1
NQO1 0 1 0 0 1
OFD1 0 1 0 0 1
OPTN 1 0 0 0 1
PACS1 1 0 0 0 1
PCARE 0 1 0 0 1
PDGFB 0 1 0 0 1
PHF6 0 1 0 0 1
PHOX2B 1 0 0 0 1
PIK3CA 0 1 0 0 1
PKD2 1 0 0 0 1
PNPT1 0 1 0 0 1
POGLUT1 0 1 0 0 1
POLG 1 0 0 0 1
POLR3A 0 1 0 0 1
POMGNT1, TSPAN1 0 1 0 0 1
PORCN 0 1 0 0 1
PPP1R12A 0 1 0 0 1
PPP2R1A 0 1 0 0 1
PRNP 1 0 0 0 1
RAD51C 1 0 0 0 1
RARB 0 1 0 0 1
RB1 1 0 0 0 1
RERE 0 1 0 0 1
RPGR 0 1 0 0 1
RSPH4A 0 0 1 0 1
RUNX1 1 0 0 0 1
RYR2 1 0 0 0 1
SCN11A 0 1 0 0 1
SEC63 0 1 0 0 1
SF3B4 1 0 0 0 1
SGCB 0 1 0 0 1
SGCG 0 1 0 0 1
SH3TC2 0 1 0 0 1
SKIC3 0 1 0 0 1
SLC45A2 0 1 0 0 1
SLC9A6 0 1 0 0 1
SMAD4 1 0 0 0 1
SMARCA2 0 1 0 0 1
SMARCA4 0 1 0 0 1
SMARCAL1 1 0 0 0 1
SPATA7 1 0 0 0 1
SPTB 0 1 0 0 1
STK11 1 0 0 0 1
STRC 1 0 0 0 1
STXBP1 0 1 0 0 1
SZT2 0 1 0 0 1
TAP1 0 1 0 0 1
TBX5 1 0 0 0 1
TCF12 0 1 0 0 1
TCTN2 0 1 0 0 1
TGFB3 1 0 0 0 1
TGFBR1 1 0 0 0 1
TGFBR2 0 0 1 0 1
THAP1 0 0 1 0 1
THOC6 1 0 0 0 1
TIA1 1 0 0 0 1
TMEM126B 0 1 0 0 1
TMEM240 0 1 0 0 1
TMEM67 1 0 0 0 1
TNNI2 1 0 0 0 1
TNPO2 0 1 0 0 1
TOR1A 1 0 0 0 1
TSC2 0 1 0 0 1
TSPEAR 1 0 0 0 1
TTC7A 0 1 0 0 1
TUBB2B 0 1 0 0 1
TUBB4A 0 1 0 0 1
WAC 1 0 0 0 1
WDR62 0 1 0 0 1
XRCC4 1 0 0 0 1
ZMPSTE24 1 0 0 0 1
ZMYND11 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 165
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Condition pathogenic likely pathogenic uncertain significance likely benign total
not provided 637 262 10 0 909
TP53-related disorder 17 18 3 1 39
Osteogenesis imperfecta type I 8 3 0 0 11
Primary ciliary dyskinesia 3 8 3 0 0 11
Primary ciliary dyskinesia 7 3 1 2 0 6
Marfan syndrome 2 3 0 0 5
Achondrogenesis type II 3 1 0 0 4
Familial hypocalciuric hypercalcemia 1 1 3 0 0 4
Joubert syndrome 17 2 2 0 0 4
Neurofibromatosis, type 1 3 1 0 0 4
Primary ciliary dyskinesia 12 2 1 1 0 4
Dilated cardiomyopathy 1G 0 3 0 0 3
KBG syndrome 1 2 0 0 3
Metaphyseal chondrodysplasia, Schmid type 0 2 1 0 3
Osteogenesis imperfecta type III 2 1 0 0 3
Osteogenesis imperfecta with normal sclerae, dominant form 2 0 1 0 3
Otospondylomegaepiphyseal dysplasia, autosomal recessive 1 1 1 0 3
Primary ciliary dyskinesia 29 2 1 0 0 3
Tatton-Brown-Rahman overgrowth syndrome 0 3 0 0 3
Achromatopsia 3 2 0 0 0 2
Bardet-Biedl syndrome 12 0 2 0 0 2
Bardet-Biedl syndrome 6 0 2 0 0 2
Bardet-Biedl syndrome 7 2 0 0 0 2
Congenital myasthenic syndrome 10 2 0 0 0 2
Elevated circulating creatine kinase concentration; Motor delay; Hyperbilirubinemia; Delayed speech and language development; Left ventricular hypertrophy; Elevated circulating hepatic transaminase concentration; Myalgia; Fatigue; Attention deficit hyperactivity disorder 0 0 2 0 2
Geleophysic dysplasia 1 0 1 1 0 2
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 2 0 0 0 2
Infantile hypophosphatasia 1 1 0 0 2
Intellectual disability, autosomal dominant 51 0 2 0 0 2
Joubert syndrome 23 2 0 0 0 2
Joubert syndrome 9 2 0 0 0 2
Meckel syndrome, type 4 1 0 0 1 2
Osteogenesis imperfecta, perinatal lethal 2 0 0 0 2
Primary ciliary dyskinesia 22 2 0 0 0 2
Rod-cone dystrophy 2 0 0 0 2
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 1 0 1 0 2
Short-rib thoracic dysplasia 15 with polydactyly 0 2 0 0 2
Smith-Lemli-Opitz syndrome 1 1 0 0 2
Spondyloepiphyseal dysplasia congenita 0 2 0 0 2
Spondyloperipheral dysplasia 2 0 0 0 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 1 0 0 0 1
ACTH-independent macronodular adrenal hyperplasia 2 1 0 0 0 1
Alport syndrome 3b, autosomal recessive 0 1 0 0 1
Androgen resistance syndrome 0 1 0 0 1
Aniridia 1 1 0 0 0 1
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 0 1 0 0 1
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 12 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 22 0 1 0 0 1
Autosomal dominant osteopetrosis 2 1 0 0 0 1
Autosomal recessive distal spinal muscular atrophy 1 0 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2B 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 3 0 1 0 0 1
Axial spondylometaphyseal dysplasia 1 0 0 0 1
Bardet-Biedl syndrome 10 1 0 0 0 1
Birt-Hogg-Dube syndrome 1 1 0 0 0 1
Blepharophimosis, ptosis, and epicanthus inversus syndrome 0 1 0 0 1
Breast-ovarian cancer, familial, susceptibility to, 1 1 0 0 0 1
Bruck syndrome 2 0 1 0 0 1
Brugada syndrome 1 0 1 0 0 1
Bryant-Li-Bhoj neurodevelopmental syndrome 1 0 1 0 0 1
Camptomelic dysplasia 1 0 0 0 1
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 0 1 0 0 1
Charcot-Marie-Tooth disease, demyelinating, IIA 1H 0 1 0 0 1
Christianson syndrome 0 1 0 0 1
Coenzyme Q10 deficiency, primary, 1 0 1 0 0 1
Cole-Carpenter syndrome 2 0 0 1 0 1
Complex cortical dysplasia with other brain malformations 1 0 1 0 0 1
Complex cortical dysplasia with other brain malformations 7 0 1 0 0 1
Cone-rod dystrophy and hearing loss 1 1 0 0 0 1
Cornelia de Lange syndrome 6 0 1 0 0 1
Costello syndrome 1 0 0 0 1
Cowden syndrome 1 0 1 0 0 1
DNA ligase IV deficiency 0 0 1 0 1
Developmental and epileptic encephalopathy, 19 0 0 1 0 1
Developmental delay, hypotonia, and impaired language 0 1 0 0 1
Donnai-Barrow syndrome 0 1 0 0 1
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis 1 0 0 0 1
Ehlers-Danlos syndrome, type 4 1 0 0 0 1
Elliptocytosis 3 0 1 0 0 1
Exostoses, multiple, type 2 1 0 0 0 1
Focal dermal hypoplasia 0 1 0 0 1
Genitourinary and/or brain malformation syndrome 0 1 0 0 1
Gillessen-Kaesbach-Nishimura dysplasia 1 0 0 0 1
Gnathodiaphyseal dysplasia 1 0 0 0 1
Greenberg dysplasia 0 0 1 0 1
Houge-Janssens syndrome 2 0 1 0 0 1
Hypertelorism; Visual impairment; Nystagmus 0 1 0 0 1
Hypomagnesemia, seizures, and intellectual disability 1 0 1 0 0 1
Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies 0 1 0 0 1
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities 0 1 0 0 1
Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type 0 0 1 0 1
Intellectual disability, autosomal dominant 41 0 1 0 0 1
Intellectual disability, autosomal dominant 42 1 0 0 0 1
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome 0 1 0 0 1
Isolated congenital megalocornea 1 0 0 0 1
Joubert syndrome 6 1 0 0 0 1
Joubert syndrome with renal defect 1 0 0 0 1
Kartagener syndrome 0 1 0 0 1
Kniest dysplasia 1 0 0 0 1
Knobloch syndrome 1 0 1 0 0 1
LZTR1-related schwannomatosis 0 1 0 0 1
Landau-Kleffner syndrome 1 0 0 0 1
Larsen syndrome 1 0 0 0 1
Lynch syndrome 1 0 1 0 0 1
MHC class I deficiency 1 0 1 0 0 1
Macrocephaly-autism syndrome 0 1 0 0 1
Macular degeneration, X-linked atrophic 0 1 0 0 1
Malan overgrowth syndrome 1 0 0 0 1
Malignant hyperthermia, susceptibility to, 1 0 1 0 0 1
Meckel syndrome, type 1 1 0 0 0 1
Meckel syndrome, type 8 0 1 0 0 1
Menke-Hennekam syndrome 1 0 0 1 0 1
Metachondromatosis 0 1 0 0 1
Metatropic dysplasia 1 0 0 0 1
Microcephaly 5, primary, autosomal recessive 1 0 0 0 1
Migraine, familial hemiplegic, 3 0 1 0 0 1
Multiple endocrine neoplasia, type 1 0 0 1 0 1
Nager syndrome 1 0 0 0 1
Nephronophthisis 1 1 0 0 0 1
Neurodevelopmental disorder with language delay and variable cognitive abnormalities 0 1 0 0 1
Neurodevelopmental disorder with or without autism or seizures 0 1 0 0 1
Neurodevelopmental disorder with or without early-onset generalized epilepsy 0 1 0 0 1
Noonan syndrome 1 0 1 0 0 1
Oculocutaneous albinism type 4 0 1 0 0 1
Oculodentodigital dysplasia 0 1 0 0 1
Opsismodysplasia 0 0 1 0 1
Osteogenesis imperfecta type 5 1 0 0 0 1
Osteopathia striata with cranial sclerosis 1 0 0 0 1
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 0 1 0 0 1
Pheochromocytoma/paraganglioma syndrome 5 0 1 0 0 1
Pigmentary retinal dystrophy 1 0 0 0 1
Pitt-Hopkins syndrome 0 1 0 0 1
Polycystic kidney disease 2 1 0 0 0 1
Polycystic kidney disease 6 with or without polycystic liver disease 1 0 0 0 1
Polycystic liver disease 2 0 1 0 0 1
Primary ciliary dyskinesia 10 0 1 0 0 1
Primary ciliary dyskinesia 13 0 1 0 0 1
Primary ciliary dyskinesia 14 1 0 0 0 1
Primary ciliary dyskinesia 19 1 0 0 0 1
Primary ciliary dyskinesia 25 1 0 0 0 1
Primary ciliary dyskinesia 5 1 0 0 0 1
Pseudohypoparathyroidism type I A 0 1 0 0 1
Renal cysts and diabetes syndrome 0 1 0 0 1
Retinitis pigmentosa 25 1 0 0 0 1
Retinoblastoma 1 0 0 0 1
Rienhoff syndrome 1 0 0 0 1
Severe early-childhood-onset retinal dystrophy 0 1 0 0 1
Short-rib thoracic dysplasia 13 with or without polydactyly 0 0 1 0 1
Silver-Russell syndrome 5 1 0 0 0 1
Spinocerebellar ataxia 27A 0 1 0 0 1
Spinocerebellar ataxia type 25 0 1 0 0 1
Spondyloepimetaphyseal dysplasia, Strudwick type 0 1 0 0 1
Spondyloepiphyseal dysplasia with congenital joint dislocations 0 1 0 0 1
Spondyloepiphyseal dysplasia, Stanescu type 1 0 0 0 1
Syndromic intellectual disability 1 0 0 0 1
Telangiectasia, hereditary hemorrhagic, type 1 1 0 0 0 1
Tooth agenesis, selective, 7 0 1 0 0 1
Torsion dystonia 6 0 0 1 0 1
Trichohepatoenteric syndrome 1 0 1 0 0 1
Tuberous sclerosis 2 0 1 0 0 1
Vitelliform macular dystrophy 2 1 0 0 0 1
X-linked hydrocephalus syndrome 0 1 0 0 1
X-linked intellectual disability-psychosis-macroorchidism syndrome 0 1 0 0 1
alpha Thalassemia 1 0 0 0 1

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