ClinVar Miner

Variants from Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center

Location: United States  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
123 131 478 0 0 732

Gene and significance breakdown #

Total genes and gene combinations: 458
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
CCDST, FLG 7 5 2 14
TET3 0 1 11 12
ATM 1 1 8 10
TRRAP 0 0 9 9
TRIO 0 2 6 8
BRCA2 2 1 3 6
HUWE1 0 0 6 6
SPTBN1 0 0 6 6
FBN1 1 1 3 5
SETD5 1 2 2 5
TNXB 0 0 5 5
VWF 1 0 4 5
ANKRD11 2 0 2 4
ARID1A 0 2 2 4
BICRA 0 0 4 4
COL6A3 1 1 2 4
KMT2A 0 0 4 4
MAN1B1 0 3 1 4
NEXMIF 1 0 3 4
NSD1 2 0 2 4
PHIP 0 0 4 4
RERE 0 0 4 4
SCN8A 0 0 4 4
ADNP 1 0 2 3
ALPL 0 1 2 3
ARFGEF1 0 1 2 3
ARID1B 2 0 1 3
ASH1L 0 0 3 3
ATM, C11orf65 0 0 3 3
BRWD3 0 1 2 3
CDH1 0 0 3 3
CHD1 0 0 3 3
CHD2 0 1 2 3
CHD3 0 2 1 3
CIC 0 0 3 3
CLCN4 0 0 3 3
CNOT1 0 0 3 3
COL4A4 1 0 2 3
IRF2BPL 0 0 3 3
KDM4B 0 0 3 3
KDM6B 0 0 3 3
LAMA1 0 2 1 3
LZTR1 1 2 0 3
MADD 0 1 2 3
NF1 1 1 1 3
NSD2 0 0 3 3
OCA2 1 2 0 3
PKD1 1 0 2 3
PTPN11 2 0 1 3
SCN2A 2 0 1 3
SIN3A 0 0 3 3
TANC2 0 0 3 3
TCF20 1 0 2 3
TSPEAR 1 1 1 3
UNC80 0 1 2 3
ZNF292 1 0 2 3
ZNF469 0 0 3 3
ACADM 2 0 0 2
ANK3 0 0 2 2
ANKRD17 0 0 2 2
ARX 0 0 2 2
ASXL3 1 0 1 2
BCORL1 0 0 2 2
CACNA1A 0 1 1 2
CAMK2A 0 0 2 2
CC2D2A 0 0 2 2
CDC42BPB 0 1 1 2
CDH23 1 0 1 2
CEP104 0 0 2 2
CFTR 1 1 0 2
CHD3, LOC126862484 0 0 2 2
CHD5 0 1 1 2
COL4A5 1 0 1 2
COL5A1 0 0 2 2
CUL4B 0 0 2 2
DEAF1 0 0 2 2
DEPDC5 0 0 2 2
DHX30 0 1 1 2
EHMT1 1 1 0 2
EP300 0 0 2 2
EXOC7 0 0 2 2
F11 1 1 0 2
F7 0 1 1 2
FGD1 1 1 0 2
FOXP1 1 1 0 2
FRMPD4 0 0 2 2
FTCD 1 0 1 2
GJB1 0 2 0 2
GJB2 2 0 0 2
GPAA1 0 0 2 2
GRIN2A 0 0 2 2
GRIN2B 1 0 1 2
HCN1 0 0 2 2
HERC2 0 0 2 2
HSD17B4 0 2 0 2
IDUA 0 1 1 2
IGF1R 0 1 1 2
INPP5E 0 2 0 2
IQSEC2 0 0 2 2
IRAK1BP1, PHIP 0 0 2 2
KDM5B 0 2 0 2
KIAA0586 1 1 0 2
KIF11 1 0 1 2
KMT2B 0 0 2 2
KMT2C 0 0 2 2
LOC126859807, TNFAIP3 0 1 1 2
MAPK8IP3 0 0 2 2
MECP2 1 0 1 2
MED12L 0 0 2 2
MED13 0 0 2 2
MED13L 0 0 2 2
MVK 1 0 1 2
MYH3 0 1 1 2
MYO15A 0 1 1 2
NAGLU 2 0 0 2
NONO 0 0 2 2
NPC1 1 1 0 2
NPHP3-ACAD11, UBA5 2 0 0 2
NRXN1 0 0 2 2
OTC 0 1 1 2
OTOGL 0 0 2 2
PAH 1 1 0 2
PALB2 0 0 2 2
POLG 1 1 0 2
POLR2A 0 0 2 2
POLRMT 0 0 2 2
RELN 0 0 2 2
RYR2 0 0 2 2
SETBP1 0 0 2 2
SETD1B 0 0 2 2
SLC6A8 0 1 1 2
SLX4 0 0 2 2
SOS1 1 0 1 2
SPEN 0 0 2 2
SYNE1 0 0 2 2
TAF1 0 0 2 2
TAF4 0 1 1 2
TBR1 0 0 2 2
TCF4 1 1 0 2
TFAP2B 0 0 2 2
TIAM1 0 0 2 2
TLK2 0 0 2 2
TMEM67 0 2 0 2
TMTC3 1 0 1 2
TRIP12 0 0 2 2
TTN 0 0 2 2
TYR 2 0 0 2
UGDH 0 1 1 2
VARS1 0 1 1 2
VPS51 0 0 2 2
ZNF462 1 0 1 2
ABAT 0 0 1 1
ABCB4 1 0 0 1
ABCC6 1 0 0 1
ABCC8 0 0 1 1
ABL1 0 0 1 1
ACADS 1 0 0 1
ACAN 0 0 1 1
ACTB 1 0 0 1
ACTG1, LOC130061940 0 0 1 1
ACTL6B 0 1 0 1
ADAMTS17, LOC130058037 0 0 1 1
ADGRL1 0 0 1 1
ADGRV1 0 0 1 1
ADK 0 0 1 1
AFG2B 0 1 0 1
AGO2 0 0 1 1
AGRN 0 0 1 1
AHDC1 1 0 0 1
ALDH18A1 0 1 0 1
ALX4 0 0 1 1
AMELX, ARHGAP6 0 1 0 1
AMPD1 0 0 1 1
ANKRD26 0 0 1 1
ANO3 0 0 1 1
ANO5 0 1 0 1
AP1G1 0 1 0 1
ARID2 0 0 1 1
ASCC1 0 1 0 1
ATP1A3 0 1 0 1
ATP6V0A1 0 0 1 1
B3GAT3 0 1 0 1
B4GALNT1 0 0 1 1
BBS10 0 0 1 1
BCL11B 0 0 1 1
BLTP1 0 0 1 1
BMPR2 0 0 1 1
BPTF 0 0 1 1
BRAF 1 0 0 1
C10orf105, CDH23 0 0 1 1
C1S 1 0 0 1
C2 1 0 0 1
CABP2 1 0 0 1
CACNA1C 0 0 1 1
CACNA1H 0 0 1 1
CACNA1I 0 0 1 1
CAMK2B 0 0 1 1
CASK 0 1 0 1
CBL, LOC130006895 0 0 1 1
CC2D1A 0 1 0 1
CHD4 0 1 0 1
CHD8 0 1 0 1
CLCN3 0 0 1 1
CLDN14 0 1 0 1
CNKSR2 1 0 0 1
CNOT3 0 0 1 1
COCH 1 0 0 1
COL1A2 0 0 1 1
COL4A3, MFF-DT 0 0 1 1
COL5A2 0 0 1 1
COL6A2 0 0 1 1
COL9A2 0 1 0 1
COL9A3 0 0 1 1
CPSF1 0 0 1 1
CRAT 0 0 1 1
CSNK2A1 0 0 1 1
CSNK2B 0 1 0 1
CSTB 1 0 0 1
CTCF 0 1 0 1
CTNNB1 1 0 0 1
CUL3 0 1 0 1
CYFIP2 0 0 1 1
CYP21A2, LOC106780800 1 0 0 1
CYP21A2, LOC106780800, TNXB 1 0 0 1
CYP21A2, TNXB 0 0 1 1
CYP27A1 1 0 0 1
DBNL, PGAM2 0 0 1 1
DCDC2, KAAG1 1 0 0 1
DCHS1 0 0 1 1
DDC 0 0 1 1
DDX6 0 0 1 1
DEGS1 0 1 0 1
DHCR7 1 0 0 1
DHDDS 0 0 1 1
DHTKD1 0 1 0 1
DLG4, LOC126862479 0 1 0 1
DLL1 0 0 1 1
DMD 0 0 1 1
DPF2 0 1 0 1
DPYD 0 1 0 1
DUOX2 0 0 1 1
DVL3 0 0 1 1
DYNC1H1 0 0 1 1
DYRK1A 1 0 0 1
EEF1A2 0 0 1 1
EIF2B1 0 0 1 1
EPB41L1 0 0 1 1
ERCC4 0 1 0 1
ERF 1 0 0 1
EXT2 0 1 0 1
FAM50A 0 0 1 1
FANCB 0 0 1 1
FANCC 1 0 0 1
FBN2 0 0 1 1
FBXO11 0 1 0 1
FBXO11, MSH6 0 0 1 1
FGF3 0 1 0 1
FGFR3 1 0 0 1
FIBP 0 0 1 1
FIG4 1 0 0 1
FKRP 1 0 0 1
FOXP2 0 0 1 1
FRAS1 0 0 1 1
FRMD5 0 0 1 1
G6PD 0 0 1 1
G6PD, IKBKG, LOC108281126 0 0 1 1
GABBR2 0 1 0 1
GATA6 0 0 1 1
GH-LCR, SCN4A 0 0 1 1
GIGYF1 0 0 1 1
GJA5 0 0 1 1
GK 0 0 1 1
GLI2 0 1 0 1
GLI3 0 0 1 1
GLMN 0 1 0 1
GNAS 0 0 1 1
GRIA1 0 0 1 1
GRIK2 0 0 1 1
H1-4 1 0 0 1
HDAC8 0 1 0 1
HEPACAM 1 0 0 1
HPDL 0 1 0 1
HPS1 1 0 0 1
HPS1, MIR4685 1 0 0 1
HS6ST2 0 0 1 1
HSD17B3, SLC35D2-HSD17B3 0 0 1 1
IFIH1 0 0 1 1
IGSF1 0 0 1 1
INF2 0 0 1 1
IPO8 0 0 1 1
IQSEC1 0 0 1 1
IRF9 0 0 1 1
KAT6A 0 0 1 1
KCNN2 0 0 1 1
KCNQ1 1 0 0 1
KCNQ2 1 0 0 1
KCNQ3 0 0 1 1
KIDINS220 0 0 1 1
KIF26A 0 0 1 1
KIF4A 0 0 1 1
KMT2D 0 1 0 1
KMT2E 0 0 1 1
KPTN 1 0 0 1
LAS1L 0 0 1 1
LCK 0 1 0 1
LDLR 1 0 0 1
LMBRD2 0 0 1 1
LMNB1 0 0 1 1
LMX1B 1 0 0 1
LOC106780803, TNXB 0 0 1 1
LOC126806428, TTN 0 0 1 1
LOC126859827, TAB2 0 0 1 1
LOC126862264, MEFV 1 0 0 1
LOC126862603, SRSF1 0 1 0 1
LOC126863330, RBMX 0 0 1 1
LOC129996783, ZNF292 0 0 1 1
LOX, SRFBP1 0 0 1 1
MAGEL2 0 0 1 1
MAN2B1 0 1 0 1
MAOA 0 0 1 1
MED12 0 0 1 1
MED12L, P2RY12 0 0 1 1
MEIS2 1 0 0 1
METTL5 0 0 1 1
MPZ 1 0 0 1
MTOR 0 0 1 1
MUSK 1 0 0 1
MYCN 1 0 0 1
MYH9 0 0 1 1
MYO18B 0 1 0 1
MYO5B, SNHG22 0 0 1 1
MYO6 0 0 1 1
MYT1L 0 0 1 1
NAA15 0 0 1 1
NAF1 0 0 1 1
NBEAL2 0 0 1 1
NEB 0 0 1 1
NEB, RIF1 0 0 1 1
NFIB 1 0 0 1
NLGN1 0 0 1 1
NLGN3 0 0 1 1
NLRP12 0 0 1 1
NOD2 0 0 1 1
NOTCH1 0 0 1 1
NOTCH3 0 1 0 1
NRAS 0 0 1 1
NSUN2 0 1 0 1
NUP160 0 0 1 1
NUP93 0 0 1 1
OCRL 0 0 1 1
OGDHL 0 0 1 1
OPA1 1 0 0 1
OPHN1 0 1 0 1
PAK3 0 1 0 1
PCCA 1 0 0 1
PCDH15 0 0 1 1
PEX10 0 0 1 1
PEX6 0 0 1 1
PHEX, PTCHD1 0 0 1 1
PHF6 0 0 1 1
PIEZO2 0 0 1 1
PIGG 0 1 0 1
PIK3R1 1 0 0 1
PLA2G6 1 0 0 1
PLOD1 0 0 1 1
POGZ 0 0 1 1
PORCN 1 0 0 1
PPFIBP1 0 0 1 1
PPM1D 0 0 1 1
PPP1R15B 0 0 1 1
PPP2CA 0 0 1 1
PRMT7 0 1 0 1
PROC 0 0 1 1
PROP1 1 0 0 1
PRR12 0 0 1 1
PTCHD1 0 1 0 1
PTEN 0 0 1 1
PTHLH 0 1 0 1
PURA 0 1 0 1
RAB39B 0 0 1 1
RAD21 0 0 1 1
RBL2 0 0 1 1
RFX7 0 0 1 1
RIC1 0 0 1 1
RP1 0 1 0 1
RPS6KA3 0 0 1 1
RTEL1, RTEL1-TNFRSF6B 0 0 1 1
RTTN 0 0 1 1
RYR1 1 0 0 1
SATB1 0 0 1 1
SCN11A 0 0 1 1
SCN1A 0 1 0 1
SCN1A, SCN9A 0 0 1 1
SCN1B 0 0 1 1
SELENOI 0 0 1 1
SELENON 1 0 0 1
SET 0 0 1 1
SETD1A 0 0 1 1
SGCE 0 1 0 1
SGSH, SLC26A11 1 0 0 1
SHANK2 0 0 1 1
SHANK3 1 0 0 1
SHROOM4 0 0 1 1
SLC25A3 0 0 1 1
SLC25A4 1 0 0 1
SLC2A1 0 1 0 1
SLC45A1 0 0 1 1
SLC51A 0 0 1 1
SLC5A7 0 0 1 1
SLCO1B1 1 0 0 1
SMAD4 1 0 0 1
SMARCAL1 1 0 0 1
SMARCC1 0 1 0 1
SMS 0 0 1 1
SNHG14, UBE3A 0 0 1 1
SON 0 0 1 1
SOX5 0 1 0 1
SPECC1L, SPECC1L-ADORA2A 0 0 1 1
SPG7 1 0 0 1
SPTAN1 0 1 0 1
SRCAP 0 0 1 1
SRSF1 0 1 0 1
STAG1 0 0 1 1
STAG2 0 0 1 1
STRC 1 0 0 1
SYK 0 0 1 1
SYN1 0 0 1 1
SYNE2 0 0 1 1
SYP 0 0 1 1
SZT2 0 0 1 1
TAOK1 0 0 1 1
TBXA2R 0 1 0 1
TCF3 0 0 1 1
TFE3 0 1 0 1
TGFBR1 0 0 1 1
TGFBR2 0 0 1 1
THOC6 0 0 1 1
TLR8 0 0 1 1
TNFAIP3 0 0 1 1
TNFRSF13B 1 0 0 1
TNRC6B 0 1 0 1
TRAPPC9 0 0 1 1
TSC1 0 1 0 1
TUBB 0 0 1 1
TUBB3 0 1 0 1
U2AF2 0 0 1 1
UBE2A 0 0 1 1
UQCRB 0 0 1 1
WASHC4 0 1 0 1
WBP11 0 0 1 1
WFS1 1 0 0 1
WNK3 0 0 1 1
WNT1 0 0 1 1
XIAP 0 0 1 1
XRCC4 0 1 0 1
ZBTB7A 0 0 1 1
ZEB2 1 0 0 1
ZMIZ1 0 0 1 1

Condition and significance breakdown #

Total conditions: 460
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance total
Hereditary breast ovarian cancer syndrome 3 2 14 19
Ichthyosis vulgaris 7 4 2 13
Beck-Fahrner syndrome 0 1 11 12
Developmental delay with or without dysmorphic facies and autism 0 0 9 9
Developmental delay, impaired speech, and behavioral abnormalities 0 0 6 6
Intellectual disability, X-linked syndromic, Turner type 0 0 6 6
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 0 0 6 6
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 1 2 2 5
Snijders Blok-Campeau syndrome 0 2 3 5
Coffin-Siris syndrome 1 2 0 2 4
Coffin-Siris syndrome 12 0 0 4 4
Cognitive impairment with or without cerebellar ataxia 0 0 4 4
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly 0 1 3 4
Intellectual developmental disorder, autosomal dominant 64 1 0 3 4
KBG syndrome 2 0 2 4
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 0 1 3 4
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 0 0 4 4
Rafiq syndrome 0 3 1 4
Sotos syndrome 2 0 2 4
Vesicoureteral reflux 8 0 0 4 4
Wiedemann-Steiner syndrome 0 0 4 4
X-linked intellectual disability, Cantagrel type 1 0 3 4
von Willebrand disease type 1 1 0 3 4
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 1 0 2 3
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 0 2 1 3
Autoinflammatory syndrome, familial, Behcet-like 1 0 1 2 3
Brittle cornea syndrome 1 0 0 3 3
Deeah syndrome 0 1 2 3
Developmental and epileptic encephalopathy 94 0 1 2 3
Developmental delay with variable intellectual impairment and behavioral abnormalities 1 0 2 3
Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures 0 1 2 3
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis 1 1 1 3
Ehlers-Danlos syndrome due to tenascin-X deficiency 0 0 3 3
Episodic ataxia, type 9 2 0 1 3
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 0 1 2 3
Infantile hypophosphatasia 0 1 2 3
Intellectual developmental disorder with autistic features and language delay, with or without seizures 0 0 3 3
Intellectual developmental disorder, autosomal dominant 65 0 0 3 3
Intellectual disability, X-linked 49 0 0 3 3
Intellectual disability, X-linked 93 0 1 2 3
Intellectual disability, autosomal dominant 14 0 2 1 3
Intellectual disability, autosomal dominant 45 0 0 3 3
Intellectual disability, autosomal dominant 52 0 0 3 3
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities 0 0 3 3
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 0 0 3 3
Neurofibromatosis-Noonan syndrome 1 1 1 3
Nizon-Isidor syndrome 0 0 3 3
Noonan syndrome 2 1 2 0 3
Pilarowski-Bjornsson syndrome 0 0 3 3
Polycystic kidney disease, adult type 1 0 2 3
Rauch-Steindl syndrome 0 0 3 3
SIN3A-related intellectual disability syndrome due to a point mutation 0 0 3 3
Tyrosinase-positive oculocutaneous albinism 1 2 0 3
Ullrich congenital muscular dystrophy 1A 0 0 3 3
Vissers-Bodmer syndrome 0 0 3 3
Weill-Marchesani syndrome 2, dominant 0 0 3 3
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 2 0 0 2
Aarskog syndrome 1 1 0 2
Autosomal recessive nonsyndromic hearing loss 3 0 1 1 2
Autosomal recessive nonsyndromic hearing loss 84B 0 0 2 2
Bifunctional peroxisomal enzyme deficiency 0 2 0 2
COACH syndrome 1 0 2 0 2
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 0 0 2 2
Catecholaminergic polymorphic ventricular tachycardia 1 0 0 2 2
Char syndrome 0 0 2 2
Charcot-Marie-Tooth disease X-linked dominant 1 0 2 0 2
Chilton-Okur-Chung neurodevelopmental syndrome 0 1 1 2
Chopra-Amiel-Gordon syndrome 0 0 2 2
Clark-Baraitser syndrome 0 0 2 2
Coffin-Siris syndrome 6 0 0 2 2
Combined oxidative phosphorylation deficiency 55 0 0 2 2
Congenital factor VII deficiency 0 1 1 2
Creatine transporter deficiency 0 1 1 2
Cystic fibrosis 1 1 0 2
Developmental and epileptic encephalopathy, 44 2 0 0 2
Developmental and epileptic encephalopathy, 84 0 1 1 2
Developmental delay with autism spectrum disorder and gait instability 0 0 2 2
Dystonia 27 1 1 0 2
Emery-Dreifuss muscular dystrophy 4, autosomal dominant 0 0 2 2
Epilepsy, familial focal, with variable foci 1 0 0 2 2
Fanconi anemia complementation group P 0 0 2 2
Freeman-Sheldon syndrome 0 1 1 2
Glutamate formiminotransferase deficiency 1 0 1 2
Glycosylphosphatidylinositol biosynthesis defect 15 0 0 2 2
Growth delay due to insulin-like growth factor I resistance 0 1 1 2
Hematuria, benign familial, 1 0 0 2 2
Hereditary cancer-predisposing syndrome 0 0 2 2
Hereditary diffuse gastric adenocarcinoma 0 0 2 2
Hereditary factor XI deficiency disease 1 1 0 2
Hermansky-Pudlak syndrome 1 2 0 0 2
Hurler syndrome 0 1 1 2
Intellectual developmental disorder 61 0 0 2 2
Intellectual developmental disorder with autism and speech delay 0 0 2 2
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 0 1 1 2
Intellectual developmental disorder with seizures and language delay 0 0 2 2
Intellectual developmental disorder, autosomal dominant 73 0 1 1 2
Intellectual developmental disorder, autosomal recessive 77 0 0 2 2
Intellectual disability, X-linked 1 0 0 2 2
Intellectual disability, X-linked 104 0 0 2 2
Intellectual disability, X-linked, syndromic 33 0 0 2 2
Intellectual disability, autosomal dominant 24 0 0 2 2
Intellectual disability, autosomal dominant 53 0 0 2 2
Intellectual disability, autosomal dominant 57 0 0 2 2
Intellectual disability, autosomal dominant 6 1 0 1 2
Intellectual disability, autosomal recessive 65 0 2 0 2
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome 0 0 2 2
Intellectual disability-severe speech delay-mild dysmorphism syndrome 1 1 0 2
Joubert syndrome 1 0 2 0 2
Joubert syndrome 23 1 1 0 2
Joubert syndrome 9 0 0 2 2
Kleefstra syndrome 1 1 1 0 2
Kleefstra syndrome 2 0 0 2 2
Landau-Kleffner syndrome 0 0 2 2
Lissencephaly 8 1 0 1 2
Medium-chain acyl-coenzyme A dehydrogenase deficiency 2 0 0 2
Menke-Hennekam syndrome 2 0 0 2 2
Mevalonic aciduria 1 0 1 2
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 1 0 1 2
Mucopolysaccharidosis, MPS-III-B 2 0 0 2
Nemaline myopathy 2 0 0 2 2
Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities 0 2 0 2
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities 0 0 2 2
Neurodevelopmental disorder with language delay and seizures 0 0 2 2
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 0 1 1 2
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 0 0 2 2
Neurodevelopmental disorder with seizures and brain atrophy 0 0 2 2
Neurodevelopmental disorder with severe motor impairment and absent language 0 1 1 2
Niemann-Pick disease, type C1 1 1 0 2
Noonan syndrome 1 1 0 1 2
Noonan syndrome 4 1 0 1 2
Norman-Roberts syndrome 0 0 2 2
Oculocutaneous albinism type 1B 2 0 0 2
Ornithine carbamoyltransferase deficiency 0 1 1 2
Parenti-mignot neurodevelopmental syndrome 0 1 1 2
Phenylketonuria 1 1 0 2
Pitt-Hopkins syndrome 1 1 0 2
Pitt-Hopkins-like syndrome 2 0 0 2 2
Pontocerebellar hypoplasia, type 13 0 0 2 2
Progeroid and marfanoid aspect-lipodystrophy syndrome 1 1 0 2
Radio-Tartaglia syndrome 0 0 2 2
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 1 0 1 2
Shukla-Vernon syndrome 0 0 2 2
Spinocerebellar ataxia type 6 0 1 1 2
Syndromic X-linked intellectual disability 34 0 0 2 2
Usher syndrome type 1D 1 0 1 2
Weiss-Kruszka syndrome 1 0 1 2
X-linked Alport syndrome 1 0 1 2
X-linked intellectual disability Cabezas type 0 0 2 2
2-aminoadipic 2-oxoadipic aciduria 0 1 0 1
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 1 0 0 1
ALDH18A1-related de Barsy syndrome 0 1 0 1
Adams-Oliver syndrome 5 0 0 1 1
Adenosine kinase deficiency 0 0 1 1
Agammaglobulinemia 8b, autosomal recessive 0 0 1 1
Aicardi-Goutieres syndrome 7 0 0 1 1
Alkuraya-Kucinskas syndrome 0 0 1 1
Amelogenesis imperfecta type 1E 0 1 0 1
Amyotrophic lateral sclerosis type 11 1 0 0 1
Angelman syndrome 0 0 1 1
Aortic aneurysm, familial thoracic 10 0 0 1 1
Armfield syndrome 0 0 1 1
Atrial fibrillation, familial, 11 0 0 1 1
Autism, susceptibility to, 17 0 0 1 1
Autism, susceptibility to, 20 0 0 1 1
Autism, susceptibility to, X-linked 1 0 0 1 1
Autism, susceptibility to, X-linked 4 0 1 0 1
Autosomal dominant Alport syndrome 0 0 1 1
Autosomal dominant Robinow syndrome 3 0 0 1 1
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 0 0 1 1
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 22 0 0 1 1
Autosomal dominant nonsyndromic hearing loss 9 1 0 0 1
Autosomal recessive Alport syndrome 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2J 0 0 1 1
Autosomal recessive limb-girdle muscular dystrophy type 2L 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 1A 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 29 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 93 1 0 0 1
Baraitser-Winter syndrome 1 1 0 0 1
Baraitser-winter syndrome 2 0 0 1 1
Bardet-Biedl syndrome 10 0 0 1 1
Blau syndrome 0 0 1 1
Bleeding disorder, platelet-type, 13, susceptibility to 0 1 0 1
Blepharocheilodontic syndrome 1 0 0 1 1
Borjeson-Forssman-Lehmann syndrome 0 0 1 1
Brachydactyly type E2 0 1 0 1
Brunet-Wagner neurodevelopmental syndrome 0 0 1 1
Brunner syndrome 0 0 1 1
CBL-related disorder 0 0 1 1
CTCF-related neurodevelopmental disorder 0 1 0 1
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies 1 0 0 1
Cardiomyopathy-hypotonia-lactic acidosis syndrome 0 0 1 1
Catifa syndrome 0 0 1 1
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome 0 1 0 1
Charcot-Marie-Tooth disease dominant intermediate E 0 0 1 1
Childhood apraxia of speech 0 0 1 1
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 0 1 0 1
Cholestanol storage disease 1 0 0 1
Cholestasis, progressive familial intrahepatic, 10 0 0 1 1
Cholestasis, progressive familial intrahepatic, 6 0 0 1 1
Coffin-Lowry syndrome 0 0 1 1
Coffin-Siris syndrome 7 0 1 0 1
Complement component 2 deficiency 1 0 0 1
Congenital contractural arachnodactyly 0 0 1 1
Congenital heart defects and skeletal malformations syndrome 0 0 1 1
Congenital heart defects, multiple types, 2 0 0 1 1
Congenital myasthenic syndrome 8 0 0 1 1
Cornelia de Lange syndrome 4 0 0 1 1
Cornelia de Lange syndrome 5 0 1 0 1
Cortical dysplasia, complex, with other brain malformations 11 0 0 1 1
DYRK1A-related intellectual disability syndrome 1 0 0 1
Deafness with labyrinthine aplasia, microtia, and microdontia 0 1 0 1
Deafness-infertility syndrome 1 0 0 1
Deficiency of alpha-mannosidase 0 1 0 1
Deficiency of aromatic-L-amino-acid decarboxylase 0 0 1 1
Deficiency of butyryl-CoA dehydrogenase 1 0 0 1
Dejerine-Sottas disease 1 0 0 1
Dermatitis, atopic, 2 0 1 0 1
Developmental and epileptic encephalopathy 104 0 0 1 1
Developmental and epileptic encephalopathy 6B 0 1 0 1
Developmental and epileptic encephalopathy, 18 0 0 1 1
Developmental and epileptic encephalopathy, 24 0 0 1 1
Developmental and epileptic encephalopathy, 5 0 1 0 1
Developmental and epileptic encephalopathy, 59 0 1 0 1
Developmental and epileptic encephalopathy, 65 0 0 1 1
Developmental and epileptic encephalopathy, 7 1 0 0 1
Developmental delay and seizures with or without movement abnormalities 0 0 1 1
Developmental delay with dysmorphic facies and dental anomalies 0 0 1 1
Developmental delay with or without intellectual impairment or behavioral abnormalities 0 0 1 1
Developmental delay with variable neurologic and brain abnormalities 0 0 1 1
Developmental delay, behavioral abnormalities, and neuropsychiatric disorders 0 0 1 1
Developmental delay, dysmorphic facies, and brain anomalies 0 0 1 1
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities 0 0 1 1
Dihydropyrimidine dehydrogenase deficiency 0 1 0 1
Duchenne muscular dystrophy 0 0 1 1
Dystonia 24 0 0 1 1
Dystonia 28, childhood-onset 0 0 1 1
Early-onset myopathy with fatal cardiomyopathy 0 0 1 1
Early-onset parkinsonism-intellectual disability syndrome 0 0 1 1
Ehlers-Danlos syndrome, arthrochalasia type, 2 0 0 1 1
Ehlers-Danlos syndrome, classic type, 1 0 0 1 1
Ehlers-Danlos syndrome, kyphoscoliotic type 1 0 0 1 1
Ehlers-Danlos syndrome, periodontal type 2 1 0 0 1
Eichsfeld type congenital muscular dystrophy 1 0 0 1
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 0 0 1 1
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders 0 0 1 1
Epilepsy, childhood absence, susceptibility to, 6 0 0 1 1
Epiphyseal dysplasia, multiple, 2 0 1 0 1
Epiphyseal dysplasia, multiple, 3 0 0 1 1
Exostoses, multiple, type 2 0 1 0 1
FG syndrome 1 0 0 1 1
Familial Mediterranean fever 1 0 0 1
Familial X-linked hypophosphatemic vitamin D refractory rickets 0 0 1 1
Familial cold autoinflammatory syndrome 2 0 0 1 1
Fanconi anemia complementation group B 0 0 1 1
Fanconi anemia complementation group C 1 0 0 1
Febrile seizures, familial, 4 0 0 1 1
Feingold syndrome type 1 1 0 0 1
Fetal akinesia deformation sequence 1 1 0 0 1
Fibromuscular dysplasia, multifocal 0 0 1 1
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement 0 1 0 1
Focal dermal hypoplasia 1 0 0 1
Fraser syndrome 1 0 0 1 1
Frontonasal dysplasia with alopecia and genital anomaly 0 0 1 1
Gamma-aminobutyric acid transaminase deficiency 0 0 1 1
Generalized epilepsy with febrile seizures plus, type 1 0 0 1 1
Generalized epilepsy with febrile seizures plus, type 10 0 0 1 1
Global developmental delay with speech and behavioral abnormalities 0 1 0 1
Glomuvenous malformation 0 1 0 1
Glycogen storage disease type X 0 0 1 1
Gray platelet syndrome 0 0 1 1
Hereditary cryohydrocytosis with reduced stomatin 0 1 0 1
Hereditary sensory and autonomic neuropathy type 7 0 0 1 1
Hereditary spastic paraplegia 26 0 0 1 1
Hereditary spastic paraplegia 7 1 0 0 1
Holoprosencephaly 9 0 1 0 1
Houge-Janssens syndrome 3 0 0 1 1
Hydrocephalus, congenital, 5, susceptibility to 0 1 0 1
Hypercholesterolemia, familial, 1 1 0 0 1
Immunodeficiency 65, susceptibility to viral infections 0 0 1 1
Immunodeficiency 82 with systemic inflammation 0 0 1 1
Immunodeficiency 98 with autoinflammation, X-linked 0 0 1 1
Immunodeficiency, common variable, 2 1 0 0 1
Inborn glycerol kinase deficiency 0 0 1 1
Incontinentia pigmenti syndrome 0 0 1 1
Infantile neuroaxonal dystrophy 1 0 0 1
Intellectual developmental disorder 62 0 1 0 1
Intellectual developmental disorder with autism and macrocephaly 0 1 0 1
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 0 0 1 1
Intellectual developmental disorder with impaired language and dysmorphic facies 0 0 1 1
Intellectual developmental disorder with neuropsychiatric features 0 0 1 1
Intellectual developmental disorder with severe speech and ambulation defects 0 1 0 1
Intellectual developmental disorder with short stature and behavioral abnormalities 0 0 1 1
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies 0 0 1 1
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities 0 0 1 1
Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies 0 1 0 1
Intellectual developmental disorder, autosomal dominant 67 0 0 1 1
Intellectual developmental disorder, autosomal dominant 68 0 0 1 1
Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities 0 0 1 1
Intellectual developmental disorder, autosomal recessive 72 0 0 1 1
Intellectual disability, X-linked 100 0 0 1 1
Intellectual disability, X-linked 30 0 1 0 1
Intellectual disability, X-linked 96 0 0 1 1
Intellectual disability, X-linked, syndromic, Houge type 1 0 0 1
Intellectual disability, X-linked, with or without seizures, ARX-related 0 0 1 1
Intellectual disability, autosomal dominant 11 0 0 1 1
Intellectual disability, autosomal dominant 13 0 0 1 1
Intellectual disability, autosomal dominant 29 0 0 1 1
Intellectual disability, autosomal dominant 38 0 0 1 1
Intellectual disability, autosomal dominant 39 0 0 1 1
Intellectual disability, autosomal dominant 47 0 0 1 1
Intellectual disability, autosomal dominant 50 0 0 1 1
Intellectual disability, autosomal dominant 54 0 0 1 1
Intellectual disability, autosomal dominant 58 0 0 1 1
Intellectual disability, autosomal recessive 13 0 0 1 1
Intellectual disability, autosomal recessive 3 0 1 0 1
Intellectual disability, autosomal recessive 43 0 1 0 1
Intellectual disability, autosomal recessive 5 0 1 0 1
Intellectual disability, autosomal recessive 53 0 1 0 1
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 0 0 1 1
Isolated neonatal sclerosing cholangitis 1 0 0 1
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome 0 1 0 1
LEOPARD syndrome 1 1 0 0 1
Lamb-Shaffer syndrome 0 1 0 1
Lambdoidal craniosynostosis 1 0 0 1
Larsen-like syndrome, B3GAT3 type 0 1 0 1
Lateral meningocele syndrome 0 1 0 1
Lessel-Kreienkamp syndrome 0 0 1 1
Leucine-induced hypoglycemia 0 0 1 1
Leukodystrophy, hypomyelinating, 18 0 1 0 1
Leukoencephalopathy with vanishing white matter 1 0 0 1 1
Loeys-Dietz syndrome 1 0 0 1 1
Loeys-Dietz syndrome 2 0 0 1 1
Long QT syndrome 1 1 0 0 1
Lowe syndrome 0 0 1 1
Macrocephaly, acquired, with impaired intellectual development 1 0 0 1
Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin 0 0 1 1
Macrocephaly-autism syndrome 0 0 1 1
Macrocephaly-developmental delay syndrome 1 0 0 1
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 0 0 1 1
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 0 0 1 1
Malaria, susceptibility to 0 0 1 1
Malignant hyperthermia, susceptibility to, 1 1 0 0 1
Marden-Walker syndrome 0 0 1 1
Megalencephalic leukoencephalopathy with subcortical cysts 2A 1 0 0 1
Microcephalic primordial dwarfism due to RTTN deficiency 0 0 1 1
Microcephaly 26, primary, autosomal dominant 0 0 1 1
Microcephaly, short stature, and impaired glucose metabolism 2 0 0 1 1
Mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type) 1 0 0 1
Mitochondrial complex III deficiency nuclear type 3 0 0 1 1
Mitral valve prolapse, myxomatous 2 0 0 1 1
Mowat-Wilson syndrome 1 0 0 1
Mucopolysaccharidosis, MPS-III-A 1 0 0 1
Mullegama-Klein-Martinez syndrome 0 0 1 1
Multiple benign circumferential skin creases on limbs 1 0 0 1 1
Muscle AMP deaminase deficiency 0 0 1 1
Muscular dystrophy-dystroglycanopathy type B5 1 0 0 1
Myhre syndrome 1 0 0 1
Myoclonic dystonia 11 0 1 0 1
Myopathy, myofibrillar, 9, with early respiratory failure 0 0 1 1
Myopia 27 0 0 1 1
Nail-patella syndrome 1 0 0 1
Nephrotic syndrome, type 12 0 0 1 1
Nephrotic syndrome, type 19 0 0 1 1
Neurodegeneration with brain iron accumulation 8 0 0 1 1
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 0 0 1 1
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies 0 0 1 1
Neurodevelopmental disorder with eye movement abnormalities and ataxia 0 0 1 1
Neurodevelopmental disorder with hearing loss and spasticity 0 1 0 1
Neurodevelopmental disorder with hypotonia and brain abnormalities 0 0 1 1
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures 0 0 1 1
Neurodevelopmental disorder with impaired language and ataxia and with or without seizures 0 0 1 1
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures 0 0 1 1
Neurodevelopmental disorder with or without autism or seizures 0 1 0 1
Neurodevelopmental disorder with or without variable movement or behavioral abnormalities 0 0 1 1
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities 0 1 0 1
Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities 0 0 1 1
Neurodevelopmental disorder with speech impairment and dysmorphic facies 0 0 1 1
Neurodevelopmental disorder with speech impairment and with or without seizures 0 0 1 1
Neuronopathy, distal hereditary motor, type 7A 0 0 1 1
Neuroocular syndrome 1 0 0 1 1
Noonan syndrome 6 0 0 1 1
Noonan syndrome 7 1 0 0 1
O'Donnell-Luria-Rodan syndrome 0 0 1 1
Okur-Chung neurodevelopmental syndrome 0 0 1 1
Osteogenesis imperfecta type 15 0 0 1 1
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 0 1 0 1
Paganini-Miozzo syndrome 0 0 1 1
Pallister-Hall syndrome 0 0 1 1
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome 0 0 1 1
Partington syndrome 0 0 1 1
Peroxisome biogenesis disorder 4B 0 0 1 1
Peroxisome biogenesis disorder 6B 0 0 1 1
Phelan-McDermid syndrome 1 0 0 1
Pituitary adenoma 5, multiple types 0 0 1 1
Pituitary hormone deficiency, combined, 2 1 0 0 1
Poirier-Bienvenu neurodevelopmental syndrome 0 1 0 1
Potassium-aggravated myotonia 0 0 1 1
Prieto syndrome 0 0 1 1
Primary erythromelalgia 0 0 1 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 1 0 0 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 1 0 0 1
Progressive familial intrahepatic cholestasis type 3 1 0 0 1
Progressive sclerosing poliodystrophy 0 1 0 1
Propionic acidemia 1 0 0 1
Pseudohypoparathyroidism type 1C 0 0 1 1
Pseudoxanthoma elasticum, forme fruste 1 0 0 1
Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7 0 0 1 1
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 0 0 1 1
Pulmonary hypertension, primary, 1 0 0 1 1
Rahman syndrome 1 0 0 1
Retinitis pigmentosa 1 0 1 0 1
Rotor syndrome 1 0 0 1
SHORT syndrome 1 0 0 1
Schaaf-Yang syndrome 0 0 1 1
Schimke immuno-osseous dysplasia 1 0 0 1
Schinzel-Giedion syndrome 0 0 1 1
Seizures, benign familial neonatal, 2 0 0 1 1
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome 1 0 0 1
Severe combined immunodeficiency due to LCK deficiency 0 1 0 1
Severe intellectual disability-progressive spastic diplegia syndrome 1 0 0 1
Short stature, microcephaly, and endocrine dysfunction 0 1 0 1
Short stature-brachydactyly-obesity-global developmental delay syndrome 0 1 0 1
Sifrim-Hitz-Weiss syndrome 0 1 0 1
Smith-Lemli-Opitz syndrome 1 0 0 1
Spastic paraplegia 81, autosomal recessive 0 0 1 1
Spastic paraplegia, intellectual disability, nystagmus, and obesity 0 0 1 1
Spinal muscular atrophy with congenital bone fractures 2 0 1 0 1
Spondyloepimetaphyseal dysplasia, aggrecan type 0 0 1 1
Syndromic X-linked intellectual disability Lubs type 0 0 1 1
Syndromic X-linked intellectual disability Najm type 0 1 0 1
Syndromic X-linked intellectual disability Nascimento type 0 0 1 1
Syndromic X-linked intellectual disability Shashi type 0 0 1 1
Syndromic X-linked intellectual disability Snyder type 0 0 1 1
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 0 0 1 1
Tall stature-intellectual disability-renal anomalies syndrome 0 0 1 1
Teebi hypertelorism syndrome 1 0 0 1 1
Telecanthus 0 0 1 1
Testosterone 17-beta-dehydrogenase deficiency 0 0 1 1
Thrombocytopenia 2 0 0 1 1
Thrombophilia due to protein C deficiency, autosomal dominant 0 0 1 1
Thyroid dyshormonogenesis 6 0 0 1 1
Tuberous sclerosis 1 0 1 0 1
Unverricht-Lundborg syndrome 1 0 0 1
Usher syndrome type 1F 0 0 1 1
Usmani-Riazuddin syndrome, autosomal dominant 0 1 0 1
VISS syndrome 0 0 1 1
Vertebral, cardiac, tracheoesophageal, renal, and limb defects 0 0 1 1
Weill-Marchesani 4 syndrome, recessive 0 0 1 1
Wilson-Turner syndrome 0 0 1 1
Wolfram syndrome 1 1 0 0 1
X-linked central congenital hypothyroidism with late-onset testicular enlargement 0 0 1 1
X-linked intellectual disability, Stocco dos Santos type 0 0 1 1
X-linked intellectual disability-cerebellar hypoplasia syndrome 0 1 0 1
X-linked intellectual disability-psychosis-macroorchidism syndrome 1 0 0 1
X-linked lymphoproliferative disease due to XIAP deficiency 0 0 1 1
XFE progeroid syndrome 0 1 0 1
Yoon-Bellen neurodevelopmental syndrome 0 0 1 1
ZTTK syndrome 0 0 1 1
von Willebrand disease type 2 0 0 1 1

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