ClinVar Miner

Variants from Yale Center for Mendelian Genomics, Yale University

Location: United States  Primary collection method: literature only
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 association likely risk allele not provided total
184 547 96 0 0 42 3 2 865

Gene and significance breakdown #

Total genes and gene combinations: 301
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance association likely risk allele not provided total
DNAH5 0 34 0 0 0 0 34
AP4B1 0 30 0 0 0 0 30
HPDL 0 25 0 0 0 0 25
AP4M1 0 24 0 0 0 0 24
PNPLA1 14 0 0 0 0 2 16
TAF1 0 0 0 16 0 0 16
ZMYM2 0 14 0 0 0 0 14
CACNA1E 0 13 0 0 0 0 13
NALCN 13 0 0 0 0 0 13
NKX6-2 8 5 0 0 0 0 13
NPHS1 1 11 0 0 0 0 12
COL4A1 0 11 0 0 0 0 11
AP4S1 0 10 0 0 0 0 10
PKHD1 3 8 0 0 0 0 10
PPIL1 0 10 0 0 0 0 10
AGXT 4 6 0 0 0 0 9
AP4E1 0 9 0 0 0 0 9
CARD14 9 0 0 0 0 0 9
CCDC39 0 9 0 0 0 0 9
GREB1L 0 2 0 7 0 0 9
COL4A5 4 4 0 0 0 0 8
HRAS, LRRC56 3 4 2 0 0 0 8
PLCE1 1 8 0 0 0 0 8
TNR 0 8 0 0 0 0 8
TRIM8 0 8 0 0 0 0 8
FOXC1 0 7 0 0 0 0 7
PRG4 7 0 0 0 0 0 7
UNC80 7 0 0 0 0 0 7
ACTL6B 6 0 0 0 0 0 6
ALG13 0 6 0 0 0 0 6
CHD7 0 0 6 0 0 0 6
JAG1 0 6 0 0 0 0 6
LAMB2 0 6 0 0 0 0 6
LRP2 0 6 0 0 0 0 6
MC1R 0 6 0 0 0 0 6
SMARCAL1 0 6 0 0 0 0 6
ACTB 0 5 0 0 0 0 5
APC 5 0 0 0 0 0 5
AXDND1, NPHS2 1 4 0 0 0 0 5
FAT1 0 5 0 0 0 0 5
FGFR1 0 2 3 0 0 0 5
FREM2 0 5 0 0 0 0 5
NF1 0 5 0 0 0 0 5
NOTCH2 5 0 0 0 0 0 5
POLR3B 0 0 2 3 0 0 5
SLC34A1 0 5 0 0 0 0 5
SLC35A2 0 5 0 0 0 0 5
SMARCC1 0 5 0 0 0 0 5
CCDC40 0 4 0 0 0 0 4
COL4A4 4 1 0 0 0 0 4
GIMAP1-GIMAP5, GIMAP5 0 4 0 0 0 0 4
GREB1L, LOC101927521 0 0 0 4 0 0 4
HNF1B 1 3 0 0 0 0 4
INF2 2 2 0 0 0 0 4
MYO9A 0 0 4 0 0 0 4
NPHS2 0 4 0 0 0 0 4
NUP93 0 4 0 0 0 0 4
PIK3CA 3 1 0 0 0 0 4
PTEN 3 0 1 0 0 0 4
TFAP2B 0 4 0 0 0 0 4
TTC21B 0 4 0 0 0 0 4
WNT10A 2 0 2 0 0 0 4
ANOS1 0 0 3 0 0 0 3
ATP6V0A4 3 0 0 0 0 0 3
ATP6V1B1 3 1 0 0 0 0 3
AVIL 3 0 0 0 0 0 3
CELSR3 0 0 0 0 3 0 3
DCC 0 0 3 0 0 0 3
DGKE 2 1 0 0 0 0 3
DNAI1 0 3 0 0 0 0 3
EYA1 1 2 0 0 0 0 3
LAMA5 0 0 3 0 0 0 3
NOTCH1 3 0 0 0 0 0 3
NPHP1 3 0 0 0 0 0 3
OFD1 0 3 0 0 0 0 3
PAX2 0 3 0 0 0 0 3
PCDH12, RNF14 3 0 0 0 0 0 3
PIK3R2 2 1 0 0 0 0 3
PMVK 0 3 0 0 0 0 3
PROKR2 0 1 3 0 0 0 3
RAB3GAP2 0 0 3 0 0 0 3
SALL1 1 2 0 0 0 0 3
SLC12A1 0 3 0 0 0 0 3
SLC4A1 3 0 0 0 0 0 3
SLIT2 3 0 0 0 0 0 3
SOS2 0 3 0 0 0 0 3
TUBA1A 0 0 3 0 0 0 3
UMOD 0 3 0 0 0 0 3
WDR73 0 3 0 0 0 0 3
ADAMTS9 0 2 0 0 0 0 2
AHCY 0 2 0 0 0 0 2
ALK 0 0 2 0 0 0 2
ATL1 0 0 2 0 0 0 2
AXL 0 0 2 0 0 0 2
CCDC103 0 2 0 0 0 0 2
CCNO, LOC129993895 0 2 0 0 0 0 2
CFAP221 0 2 0 0 0 0 2
CLDN14 0 0 0 2 0 0 2
COL18A1, SLC19A1 2 0 0 0 0 0 2
CRY1 0 0 0 2 0 0 2
DHX32 0 0 2 0 0 0 2
DMXL2 0 0 2 0 0 0 2
DNAAF1 0 2 0 0 0 0 2
DNAH11 0 2 0 0 0 0 2
DSPP 0 2 0 0 0 0 2
EPHB4 0 0 0 2 0 0 2
FAN1, MTMR10 0 2 0 0 0 0 2
FAT4 0 2 0 0 0 0 2
FRAS1 0 2 0 0 0 0 2
GNRHR 0 0 2 0 0 0 2
GRHPR 0 2 0 0 0 0 2
HEATR5B 0 2 0 0 0 0 2
HPDL, LOC129930439 0 2 0 0 0 0 2
HPSE2 2 0 0 0 0 0 2
ITGA3 0 2 0 0 0 0 2
KAT6A 0 1 0 1 0 0 2
KEL 0 0 0 2 0 0 2
KL 0 0 2 0 0 0 2
KLB 0 0 2 0 0 0 2
KRAS 2 1 0 0 0 0 2
LOC100287944, POLR3B 0 0 1 1 0 0 2
LRRC37A2, WNT9B 0 2 0 0 0 0 2
MTOR 1 0 1 0 0 0 2
MYO15A 0 2 0 0 0 0 2
MYO1E 0 2 0 0 0 0 2
OCRL 1 1 0 0 0 0 2
PRG4, TPR 2 0 0 0 0 0 2
PTCH1 0 2 0 0 0 0 2
RAB3GAP1 0 0 2 0 0 0 2
RNF170 2 0 0 0 0 0 2
SCN2A 0 2 0 0 0 0 2
SGPL1 0 2 0 0 0 0 2
SPAG1 0 2 0 0 0 0 2
SPAST 0 0 2 0 0 0 2
SPRY4 0 0 2 0 0 0 2
SRGAP1 2 0 0 0 0 0 2
TBX18 0 2 0 0 0 0 2
TRIM71 0 2 0 0 0 0 2
TRPC6 1 1 0 0 0 0 2
WDR72 0 2 0 0 0 0 2
​intergenic 0 1 0 0 0 0 1
ACAT1 1 0 0 0 0 0 1
ACTG1 1 0 0 0 0 0 1
AFAP1L2, VWA2 0 1 0 0 0 0 1
ALOXE3 0 1 0 0 0 0 1
AQP2, AQP5 0 1 0 0 0 0 1
ATIC, FN1 0 1 0 0 0 0 1
ATP6V1C2 0 1 0 0 0 0 1
ATRIP, ATRIP-TREX1, TREX1 0 1 0 0 0 0 1
AVIL, TSFM 1 0 0 0 0 0 1
BBS9 1 0 0 0 0 0 1
BRAF 1 0 0 0 0 0 1
C3 0 1 0 0 0 0 1
CACNA1C 0 1 0 0 0 0 1
CACNA1S 0 1 0 0 0 0 1
CCND2 1 0 0 0 0 0 1
CDC40 0 1 0 0 0 0 1
CDK20 0 0 1 0 0 0 1
CFAP57 0 1 0 0 0 0 1
CFI 0 1 0 0 0 0 1
CLCN5 0 1 0 0 0 0 1
CLCN5, LOC126863258 0 1 0 0 0 0 1
CLCNKB, LOC106501713 1 0 0 0 0 0 1
CLDN16 0 1 0 0 0 0 1
CLDN19 0 1 0 0 0 0 1
COG1, LOC126862634 0 0 1 0 0 0 1
COL18A1 1 0 0 0 0 0 1
COL1A2 0 1 0 0 0 0 1
COL4A2 0 1 0 0 0 0 1
COL4A3, MFF-DT 0 1 0 0 0 0 1
COQ2 0 1 0 0 0 0 1
COQ2, LOC112997540 0 1 0 0 0 0 1
CPT2 0 1 0 0 0 0 1
CTNNA1 0 1 0 0 0 0 1
CTNNB1, LOC126806658 0 0 1 0 0 0 1
CTNS 0 1 0 0 0 0 1
CTU2 0 1 0 0 0 0 1
DBNL, PGAM2 0 1 0 0 0 0 1
DDX53, PTCHD1 0 0 1 0 0 0 1
DGUOK, LOC129934096 0 1 0 0 0 0 1
DHTKD1 0 0 1 0 0 0 1
DHX8, ETV4 0 1 0 0 0 0 1
DNAAF3 0 1 0 0 0 0 1
DNAAF4, DNAAF4-CCPG1 0 1 0 0 0 0 1
DNAAF6 0 1 0 0 0 0 1
DNASE1, TRAP1 1 0 0 0 0 0 1
DUSP1, ERGIC1, NEURL1B 0 0 1 0 0 0 1
DYNC1H1 0 1 0 0 0 0 1
DYNC2H1 1 0 0 0 0 0 1
ESRRB 0 1 0 0 0 0 1
FAM186B 0 1 0 0 0 0 1
FANCI 0 1 0 0 0 0 1
FBN1 1 0 0 0 0 0 1
FBXO31 0 1 1 0 0 0 1
FEZF1 0 0 1 0 0 0 1
FGF18, NPM1 0 0 1 0 0 0 1
FLRT3, MACROD2 0 0 1 0 0 0 1
FOXJ1 1 0 0 0 0 0 1
GATA6 0 1 0 0 0 0 1
GBA1, LOC106627981 1 0 0 0 0 0 1
GH-LCR, SCN4A 0 1 0 0 0 0 1
GJA4 1 0 0 0 0 0 1
GJB2 1 0 0 0 0 0 1
GLA, RPL36A-HNRNPH2 0 1 0 0 0 0 1
GLI2 0 1 0 0 0 0 1
GLI3 0 1 0 0 0 0 1
GNA11 0 1 0 0 0 0 1
GNA14 0 1 0 0 0 0 1
GNPTAB 1 0 0 0 0 0 1
GNRH1 0 0 1 0 0 0 1
GPC4 0 1 0 0 0 0 1
GRIA3 0 1 0 0 0 0 1
HESX1 0 0 1 0 0 0 1
HPDL, LOC129930440 0 1 0 0 0 0 1
HPGD 1 0 0 0 0 0 1
IFT140, LOC105371046 1 0 0 0 0 0 1
INCENP 0 1 0 0 0 0 1
INPP5B 0 1 0 0 0 0 1
IPO11 0 0 1 0 0 0 1
KANK4 0 1 0 0 0 0 1
KAT6B 0 1 0 0 0 0 1
KDR 0 1 0 0 0 0 1
KIF22 1 0 0 0 0 0 1
KIRREL2, NPHS1 0 1 0 0 0 0 1
KISS1R 0 0 1 0 0 0 1
KMT2D 0 0 0 1 0 0 1
KRT1 1 0 0 0 0 0 1
KRT10 0 1 0 0 0 0 1
LHX3 0 0 1 0 0 0 1
LMX1B 0 1 0 0 0 0 1
LOC100507346, PTCH1 0 1 0 0 0 0 1
LOC107372315, OSGEP 0 0 1 0 0 0 1
LOC108281177, SOX2, SOX2-OT 0 0 1 0 0 0 1
LOC122861286, UNC80 1 0 0 0 0 0 1
LOC126859690, PKHD1 1 0 0 0 0 0 1
LOC126860794, NOTCH1 1 0 0 0 0 0 1
LOC126862442, SLC7A5 0 0 1 0 0 0 1
LOC130059740, MVD 0 1 0 0 0 0 1
MAP2K2 0 1 0 0 0 0 1
METAP1 0 1 0 0 0 0 1
MPV17 1 0 0 0 0 0 1
MSH6 0 1 0 0 0 0 1
MVD 0 1 0 0 0 0 1
MXRA5 0 0 1 0 0 0 1
MYCN 0 1 0 0 0 0 1
MYH3 0 1 0 0 0 0 1
NGLY1 0 1 0 0 0 0 1
NHERF1 0 1 0 0 0 0 1
NPHP4 0 1 0 0 0 0 1
NRAS 0 1 0 0 0 0 1
NRIP1 1 0 0 0 0 0 1
ODAD1 0 1 0 0 0 0 1
OSGEP 0 0 1 0 0 0 1
OTUD4 0 0 1 0 0 0 1
PDSS2 0 1 0 0 0 0 1
PFKM 0 1 0 0 0 0 1
PIAS1 0 1 0 0 0 0 1
PNPLA6 0 0 1 0 0 0 1
POFUT1 1 0 0 0 0 0 1
POLR1C, RSPH9 0 1 0 0 0 0 1
PREPL, SLC3A1 0 1 0 0 0 0 1
PROK2 0 0 1 0 0 0 1
PROP1 0 0 1 0 0 0 1
RANBP17 0 0 1 0 0 0 1
RBM48 0 1 0 0 0 0 1
RCOR1 0 1 0 0 0 0 1
RHOB 0 0 1 0 0 0 1
RNF213 0 1 0 0 0 0 1
ROBO2 0 1 0 0 0 0 1
RPGR 0 1 0 0 0 0 1
RYR1 0 1 0 0 0 0 1
SEMA3A 0 0 1 0 0 0 1
SEMA3E 0 0 1 0 0 0 1
SERAC1 1 0 0 0 0 0 1
SGCD 0 1 0 0 0 0 1
SLC29A3 1 0 0 0 0 0 1
SLC35F1 0 0 1 0 0 0 1
SLC3A1 0 1 0 0 0 0 1
SLC4A2 0 1 0 0 0 0 1
SLC51A 1 0 0 0 0 0 1
SLC7A5 0 0 1 0 0 0 1
SMAD6 1 0 0 0 0 0 1
SMARCA2 0 0 0 1 0 0 1
SOX11 0 1 0 0 0 0 1
SPTAN1 0 1 0 0 0 0 1
SRA1 0 0 1 0 0 0 1
SYNPO 0 1 0 0 0 0 1
TACR3 0 0 1 0 0 0 1
TBC1D8B 0 1 0 0 0 0 1
TCF12 1 0 0 0 0 0 1
TFCP2L1 0 1 0 0 0 0 1
TG 0 1 0 0 0 0 1
TMC1 0 1 0 0 0 0 1
TMEM231 0 1 0 0 0 0 1
TP63 0 1 0 0 0 0 1
TPRKB 0 0 1 0 0 0 1
TRPS1 0 1 0 0 0 0 1
WDR11 0 0 1 0 0 0 1
WFS1 0 1 0 0 0 0 1
WNK4 1 0 0 0 0 0 1
WT1 1 0 0 0 0 0 1

Condition and significance breakdown #

Total conditions: 156
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance association likely risk allele not provided total
Spastic paraplegia 2 101 0 0 0 0 103
Nephrotic syndrome 2 77 12 0 0 0 91
Primary ciliary dyskinesia 0 72 0 0 0 0 72
Congenital anomaly of kidney and urinary tract 11 52 0 0 0 0 63
Amenorrhea 0 0 51 0 0 0 51
Congenital hydrocephalus 0 12 4 0 0 0 16
Congenital ichthyosiform erythroderma 14 0 0 0 0 2 16
Heart, malformation of 0 0 0 16 0 0 16
Nephrocalcinosis; Nephrolithiasis 0 16 0 0 0 0 16
Congenital pontocerebellar hypoplasia 0 13 0 0 0 0 13
Distal renal tubular acidosis 9 4 0 0 0 0 13
Early infantile epileptic encephalopathy with suppression bursts 0 13 0 0 0 0 13
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 13 0 0 0 0 0 13
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 8 5 0 0 0 0 13
Atypical coarctation of aorta 0 11 0 0 0 0 11
Craniosynostosis syndrome 2 9 0 0 0 0 11
Renal agenesis and hypodysplasia 0 0 0 11 0 0 11
Seizure 3 7 0 0 0 0 10
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome 9 0 0 0 0 0 9
Focal segmental glomerulosclerosis 3 2 4 0 0 0 9
Papulosquamous eruptions 9 0 0 0 0 0 9
Rhabdomyolysis 0 9 0 0 0 0 9
Vein of Galen aneurysmal malformation 0 0 0 9 0 0 9
Autism spectrum disorder 6 0 2 0 0 0 8
Autosomal dominant polycystic liver disease 0 8 0 0 0 0 8
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 8 0 0 0 0 0 8
Nephronophthisis 0 8 0 0 0 0 8
Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus 0 8 0 0 0 0 8
Seizure; Focal segmental glomerulosclerosis; Neurodevelopmental delay 0 8 0 0 0 0 8
Vascular Tumors Including Pyogenic Granuloma 0 5 2 0 0 0 7
Donnai-Barrow syndrome 0 6 0 0 0 0 6
Tyrosinase-positive oculocutaneous albinism 0 6 0 0 0 0 6
Autosomal dominant Alport syndrome 3 2 0 0 0 0 5
Congenital smooth muscle hamartoma 0 5 0 0 0 0 5
Familial adenomatous polyposis 1 5 0 0 0 0 0 5
Hearing impairment 1 4 0 0 0 0 5
KA-like vemurafenib-induced squamous lesions 5 0 0 0 0 0 5
Keratoacanthoma 5 0 0 0 0 0 5
Linear porokeratosis 0 5 0 0 0 0 5
non-lesional focal epilepsy 0 5 0 0 0 0 5
Disease of glomerular basement membrane 3 1 0 0 0 0 4
Hypogonadotropic hypogonadism 0 0 0 4 0 0 4
Portal hypertension 0 4 0 0 0 0 4
Primary hyperoxaluria, type I 4 0 0 0 0 0 4
Steroid-resistant nephrotic syndrome 4 0 0 0 0 0 4
Tooth agenesis 2 0 2 0 0 0 4
Diencephalic-mesencephalic junction dysplasia 3 0 0 0 0 0 3
Familial juvenile hyperuricemic nephropathy type 1 0 3 0 0 0 0 3
Focal segmental glomerulosclerosis; Steroid-resistant nephrotic syndrome 0 3 0 0 0 0 3
Knobloch syndrome 3 0 0 0 0 0 3
Nevus sebaceous 3 0 0 0 0 0 3
Noonan syndrome 0 3 0 0 0 0 3
Renal cysts and diabetes syndrome 1 2 0 0 0 0 3
Tourette syndrome 0 0 0 0 3 0 3
Alagille syndrome due to a NOTCH2 point mutation 2 0 0 0 0 0 2
Attention deficit hyperactivity disorder; Sleep-wake schedule disorder, delayed phase type 0 0 0 2 0 0 2
Autosomal recessive polycystic kidney disease 2 0 0 0 0 0 2
Branchiooculofacial syndrome 1 1 0 0 0 0 2
Dent disease type 1 0 2 0 0 0 0 2
Dent disease type 2 0 2 0 0 0 0 2
Denticles 0 2 0 0 0 0 2
Focal segmental glomerulosclerosis 5 1 1 0 0 0 0 2
Fraser syndrome 2 0 2 0 0 0 0 2
Gaucher disease type I 1 1 0 0 0 0 2
Hepatic Ductular Hypoplasia 0 2 0 0 0 0 2
Hereditary cancer-predisposing syndrome 1 0 1 0 0 0 2
Hypogonadotropic hypogonadism 2 with or without anosmia 0 2 0 0 0 0 2
Karyomegalic interstitial nephritis 0 2 0 0 0 0 2
Megalencephaly-capillary malformation-polymicrogyria syndrome 1 1 0 0 0 0 2
Nephrocalcinosis 0 2 0 0 0 0 2
Nephronophthisis 1 2 0 0 0 0 0 2
Neurodevelopmental delay 0 2 0 0 0 0 2
PTEN hamartoma tumor syndrome 2 0 0 0 0 0 2
Pilomyxoid astrocytoma 0 0 2 0 0 0 2
Polycystic kidney disease 4 2 0 0 0 0 0 2
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 1 0 0 0 0 0 1
Abnormal immunoglobulin level 0 0 1 0 0 0 1
Abnormality of the skeletal system; Abnormal facial shape; Macrocephaly 0 0 1 0 0 0 1
Accessory ectopic thyroid tissue 0 0 1 0 0 0 1
Alport syndrome 1 0 0 0 0 0 1
Asphyxiating thoracic dystrophy 3 1 0 0 0 0 0 1
Atypical hemolytic-uremic syndrome 1 0 0 0 0 0 1
Atypical hemolytic-uremic syndrome with C3 anomaly 0 1 0 0 0 0 1
Autoimmune thyroid disease, susceptibility to, 3 0 1 0 0 0 0 1
Bardet-Biedl syndrome 9 1 0 0 0 0 0 1
Bartter disease type 3 1 0 0 0 0 0 1
Bilateral cryptorchidism; Microphallus 0 0 1 0 0 0 1
Cardiofaciocutaneous syndrome 4 0 1 0 0 0 0 1
Cerebral palsy 0 0 1 0 0 0 1
Cerebral palsy; Seizure; Intellectual disability 0 1 0 0 0 0 1
Cholestasis, progressive familial intrahepatic, 6 1 0 0 0 0 0 1
Chronic kidney disease 0 1 0 0 0 0 1
Ciliary dyskinesia, primary, 43 1 0 0 0 0 0 1
Complement-mediated glomerular disease 0 1 0 0 0 0 1
Congenital nonbullous ichthyosiform erythroderma 0 1 0 0 0 0 1
Congenital reticular ichthyosiform erythroderma 1 0 0 0 0 0 1
Conspicuously happy disposition 0 0 1 0 0 0 1
Cowden syndrome 1 0 0 0 0 0 1
Cystic epithelial invagination containing papillae lined by columnar epithelium 1 0 0 0 0 0 1
Cystic renal dysplasia; Chronic kidney disease 0 1 0 0 0 0 1
Cystinuria 0 1 0 0 0 0 1
Deficiency of acetyl-CoA acetyltransferase 1 0 0 0 0 0 1
Dentinogenesis imperfecta 0 1 0 0 0 0 1
Diabetes insipidus, nephrogenic, autosomal 0 1 0 0 0 0 1
Dowling-Degos disease 2 1 0 0 0 0 0 1
Dysosteosclerosis 1 0 0 0 0 0 1
Ectopic thyroid 0 0 1 0 0 0 1
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 0 1 0 0 0 0 1
Epidermolytic acanthoma 0 1 0 0 0 0 1
Familial aplasia of the vermis 0 1 0 0 0 0 1
Fanconi anemia complementation group I 0 1 0 0 0 0 1
Feingold syndrome 0 1 0 0 0 0 1
Frasier syndrome 1 0 0 0 0 0 1
Greig cephalopolysyndactyly syndrome 0 1 0 0 0 0 1
HANAC-like syndrome 0 1 0 0 0 0 1
Hemolytic-uremic syndrome 1 0 0 0 0 0 1
Hepatic hemangioma 1 0 0 0 0 0 1
Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 1 0 0 0 0 0 1
Hypogonadotropic hypogonadism 3 with or without anosmia 0 1 0 0 0 0 1
Intellectual disability 0 1 0 0 0 0 1
Intellectual disability; Peripheral neuropathy; Neuromotor delay 0 1 0 0 0 0 1
Kaposiform hemangioendothelioma; Congenital tufted angioma; Pyogenic granuloma 0 1 0 0 0 0 1
Lingual thyroid 0 0 1 0 0 0 1
Lobular capillary hemangiomas 0 1 0 0 0 0 1
Lowe syndrome 1 0 0 0 0 0 1
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 1 0 0 0 0 0 1
Marfan syndrome 1 0 0 0 0 0 1
Microcephaly 0 1 0 0 0 0 1
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 1 0 0 0 0 0 1
Motor tics 0 0 1 0 0 0 1
Movement disorder 0 0 1 0 0 0 1
Nephrolithiasis; Hypophosphatemia 0 1 0 0 0 0 1
Phonic tics 0 0 1 0 0 0 1
Polycystic kidney disease 1 0 0 0 0 0 1
Portal hypertension, noncirrhotic 0 1 0 0 0 0 1
Pseudo-Hurler polydystrophy 1 0 0 0 0 0 1
Pseudo-fractures 0 0 1 0 0 0 1
Pseudohypoaldosteronism type 2B 1 0 0 0 0 0 1
Recurrent hand flapping 0 0 1 0 0 0 1
Recurrent pancreatitis 0 0 1 0 0 0 1
Renal hypoplasia; Chronic kidney disease; Renal dysplasia 0 1 0 0 0 0 1
Saldino-Mainzer syndrome 1 0 0 0 0 0 1
Seizure; Microcephaly; Neurodevelopmental delay 0 1 0 0 0 0 1
Seizure; Microcephaly; Neurodevelopmental delay; Hypotonia 0 1 0 0 0 0 1
Seizure; Neurodevelopmental delay; Hypotonia 0 1 0 0 0 0 1
Skin hemangioma 1 0 0 0 0 0 1
Spastic cerebral palsy 0 1 0 0 0 0 1
Spondyloepimetaphyseal dysplasia with multiple dislocations 1 0 0 0 0 0 1
Thrombotic microangiopathy 0 1 0 0 0 0 1
Thyroid tumor 0 0 1 0 0 0 1
Tics 0 0 1 0 0 0 1
Townes syndrome 1 0 0 0 0 0 1
Tufted angioma of skin 0 1 0 0 0 0 1
Vesicoureteral reflux 0 1 0 0 0 0 1
Wolfram-like syndrome 0 1 0 0 0 0 1
cutaneous-skeletal hypophosphatemia syndrome 0 1 0 0 0 0 1

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