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 |
43
|
23
|
32
|
2
|
4
|
104
|
Gene and significance breakdown #
Total genes and gene combinations: 83
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
DOCK8
|
1
|
0 |
0 |
0 |
3
|
4
|
LOC107303340, VHL
|
2
|
0 |
1
|
1
|
0 |
4
|
ABCB4
|
1
|
0 |
1
|
0 |
0 |
2
|
ATP8B1
|
1
|
1
|
0 |
0 |
0 |
2
|
BMP6
|
0 |
0 |
2
|
0 |
0 |
2
|
C17orf107, CHRNE
|
2
|
0 |
0 |
0 |
0 |
2
|
CFI
|
0 |
0 |
2
|
0 |
0 |
2
|
COLQ
|
0 |
2
|
0 |
0 |
0 |
2
|
HSD3B7, STX1B
|
0 |
0 |
1
|
1
|
0 |
2
|
IRAK4
|
0 |
1
|
1
|
0 |
0 |
2
|
MCM10
|
2
|
0 |
0 |
0 |
0 |
2
|
NPHP3, NPHP3-ACAD11
|
0 |
2
|
0 |
0 |
0 |
2
|
RTTN
|
1
|
1
|
0 |
0 |
0 |
2
|
SEC23B
|
1
|
0 |
1
|
0 |
0 |
2
|
SLC34A1
|
1
|
1
|
0 |
0 |
0 |
2
|
SPG7
|
2
|
0 |
0 |
0 |
0 |
2
|
TYR
|
1
|
1
|
0 |
0 |
0 |
2
|
intergenic
|
0 |
0 |
1
|
0 |
0 |
1
|
ACTC1, GJD2-DT
|
0 |
1
|
0 |
0 |
0 |
1
|
AGRN
|
0 |
0 |
1
|
0 |
0 |
1
|
ALG13
|
0 |
0 |
1
|
0 |
0 |
1
|
ALG6, DLEU2L, EFCAB7, FOXD3, ITGB3BP, LOC121725027, LOC129930667, LOC129930668, LOC129930669, LOC129930670, PGM1
|
0 |
0 |
1
|
0 |
0 |
1
|
ANK1
|
1
|
0 |
0 |
0 |
0 |
1
|
APP
|
0 |
0 |
1
|
0 |
0 |
1
|
ARX
|
1
|
0 |
0 |
0 |
0 |
1
|
BMP4
|
0 |
0 |
1
|
0 |
0 |
1
|
CACNA1A
|
1
|
0 |
0 |
0 |
0 |
1
|
CHRNE
|
1
|
0 |
0 |
0 |
0 |
1
|
COG7
|
0 |
0 |
1
|
0 |
0 |
1
|
CTPS1
|
1
|
0 |
0 |
0 |
0 |
1
|
DHRS3
|
0 |
0 |
1
|
0 |
0 |
1
|
DOCK11
|
0 |
0 |
1
|
0 |
0 |
1
|
DOCK7
|
0 |
1
|
0 |
0 |
0 |
1
|
DOCK8, LOC126860552
|
0 |
0 |
0 |
0 |
1
|
1
|
DOCK8, LOC126860552, LOC130001435, LOC130001436, LOC130001437, LOC130001438, LOC130001439, LOC130001440
|
1
|
0 |
0 |
0 |
0 |
1
|
DST
|
1
|
0 |
0 |
0 |
0 |
1
|
FBN1, LOC126862124
|
1
|
0 |
0 |
0 |
0 |
1
|
FLNA
|
1
|
0 |
0 |
0 |
0 |
1
|
FLNC
|
0 |
0 |
1
|
0 |
0 |
1
|
G6PC3
|
1
|
0 |
0 |
0 |
0 |
1
|
GATA2
|
1
|
0 |
0 |
0 |
0 |
1
|
HDLBP
|
0 |
0 |
1
|
0 |
0 |
1
|
INPP5D
|
0 |
0 |
1
|
0 |
0 |
1
|
KCNQ1
|
1
|
0 |
0 |
0 |
0 |
1
|
KCNT1
|
1
|
0 |
0 |
0 |
0 |
1
|
KDM2B
|
0 |
0 |
1
|
0 |
0 |
1
|
KIF11
|
1
|
0 |
0 |
0 |
0 |
1
|
KIF5C
|
0 |
1
|
0 |
0 |
0 |
1
|
KMT2E
|
1
|
0 |
0 |
0 |
0 |
1
|
KPTN
|
0 |
0 |
1
|
0 |
0 |
1
|
LEMD3
|
0 |
0 |
1
|
0 |
0 |
1
|
LOC110120570, LOC112486209, LOC132090432, LOC132090433, LOC132090434, LOC132090435, WWOX
|
1
|
0 |
0 |
0 |
0 |
1
|
LOC126806068, RYR2
|
0 |
1
|
0 |
0 |
0 |
1
|
LZTR1
|
0 |
0 |
1
|
0 |
0 |
1
|
NPAS4
|
0 |
0 |
1
|
0 |
0 |
1
|
NTRK3
|
0 |
0 |
1
|
0 |
0 |
1
|
PAPSS2
|
1
|
0 |
0 |
0 |
0 |
1
|
PAX2
|
0 |
1
|
0 |
0 |
0 |
1
|
PIK3CA
|
1
|
0 |
0 |
0 |
0 |
1
|
PKDCC
|
1
|
0 |
0 |
0 |
0 |
1
|
POLR2A
|
0 |
1
|
0 |
0 |
0 |
1
|
POR
|
0 |
1
|
0 |
0 |
0 |
1
|
PRKAG2
|
1
|
0 |
0 |
0 |
0 |
1
|
PSTPIP1
|
1
|
0 |
0 |
0 |
0 |
1
|
PTPRC
|
1
|
0 |
0 |
0 |
0 |
1
|
RMND1
|
1
|
0 |
0 |
0 |
0 |
1
|
SAMD9L
|
0 |
1
|
0 |
0 |
0 |
1
|
SLC30A10
|
0 |
0 |
1
|
0 |
0 |
1
|
SLC39A13
|
0 |
0 |
1
|
0 |
0 |
1
|
SLC4A1
|
0 |
1
|
0 |
0 |
0 |
1
|
SLC5A7
|
0 |
0 |
1
|
0 |
0 |
1
|
SPAST
|
0 |
1
|
0 |
0 |
0 |
1
|
SYNGAP1
|
0 |
1
|
0 |
0 |
0 |
1
|
TNNI2
|
1
|
0 |
0 |
0 |
0 |
1
|
TNNT3
|
1
|
0 |
0 |
0 |
0 |
1
|
TP63
|
1
|
0 |
0 |
0 |
0 |
1
|
TUBA1A
|
0 |
1
|
0 |
0 |
0 |
1
|
TUBB2B
|
0 |
1
|
0 |
0 |
0 |
1
|
UBE2Q2
|
0 |
0 |
1
|
0 |
0 |
1
|
VDAC2
|
0 |
0 |
1
|
0 |
0 |
1
|
WDFY3
|
1
|
0 |
0 |
0 |
0 |
1
|
WDR45
|
0 |
1
|
0 |
0 |
0 |
1
|
WWOX
|
1
|
0 |
0 |
0 |
0 |
1
|
Condition and significance breakdown #
Condition |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Combined immunodeficiency due to DOCK8 deficiency
|
2
|
0 |
0 |
0 |
4
|
6
|
Neonatal hemochromatosis
|
0 |
0 |
3
|
1
|
0 |
4
|
Chuvash polycythemia
|
1
|
0 |
1
|
1
|
0 |
3
|
Congenital dyserythropoietic anemia
|
0 |
1
|
2
|
0 |
0 |
3
|
Congenital myasthenic syndrome 4C
|
3
|
0 |
0 |
0 |
0 |
3
|
Craniosynostosis syndrome
|
0 |
0 |
3
|
0 |
0 |
3
|
Fine-Lubinsky syndrome
|
0 |
1
|
2
|
0 |
0 |
3
|
See cases
|
1
|
1
|
1
|
0 |
0 |
3
|
Severe combined immunodeficiency disease
|
0 |
0 |
3
|
0 |
0 |
3
|
Benign recurrent intrahepatic cholestasis type 1
|
1
|
1
|
0 |
0 |
0 |
2
|
Congenital Erythrocytosis
|
1
|
0 |
1
|
0 |
0 |
2
|
Congenital dyserythropoietic anemia, type II
|
1
|
0 |
1
|
0 |
0 |
2
|
Congenital myasthenic syndrome 5
|
0 |
2
|
0 |
0 |
0 |
2
|
Developmental and epileptic encephalopathy, 28
|
2
|
0 |
0 |
0 |
0 |
2
|
Factor I deficiency
|
0 |
0 |
2
|
0 |
0 |
2
|
Fetal Cardiomyopathy
|
2
|
0 |
0 |
0 |
0 |
2
|
Fibrotic kidney disease
|
0 |
2
|
0 |
0 |
0 |
2
|
Hereditary spastic paraplegia 7
|
2
|
0 |
0 |
0 |
0 |
2
|
Hypercalcemia, infantile, 2
|
1
|
1
|
0 |
0 |
0 |
2
|
Microcephalic primordial dwarfism due to RTTN deficiency
|
1
|
1
|
0 |
0 |
0 |
2
|
Oculocutaneous albinism type 1B
|
1
|
1
|
0 |
0 |
0 |
2
|
Progressive familial intrahepatic cholestasis type 3
|
1
|
0 |
1
|
0 |
0 |
2
|
Aicardi syndrome
|
1
|
0 |
0 |
0 |
0 |
1
|
Arthrogryposis, distal, type 2B2
|
1
|
0 |
0 |
0 |
0 |
1
|
Ataxia-pancytopenia syndrome
|
0 |
1
|
0 |
0 |
0 |
1
|
Autosomal dominant distal renal tubular acidosis
|
0 |
1
|
0 |
0 |
0 |
1
|
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
|
1
|
0 |
0 |
0 |
0 |
1
|
COG7 congenital disorder of glycosylation
|
0 |
0 |
1
|
0 |
0 |
1
|
Combined oxidative phosphorylation defect type 11
|
1
|
0 |
0 |
0 |
0 |
1
|
Complex cortical dysplasia with other brain malformations 2
|
0 |
1
|
0 |
0 |
0 |
1
|
Complex cortical dysplasia with other brain malformations 7
|
0 |
1
|
0 |
0 |
0 |
1
|
Congenital myasthenic syndrome 20
|
0 |
0 |
1
|
0 |
0 |
1
|
Congenital myasthenic syndrome 8
|
0 |
0 |
1
|
0 |
0 |
1
|
Developmental and epileptic encephalopathy, 14
|
1
|
0 |
0 |
0 |
0 |
1
|
Developmental and epileptic encephalopathy, 23
|
0 |
1
|
0 |
0 |
0 |
1
|
Developmental and epileptic encephalopathy, 36
|
0 |
0 |
1
|
0 |
0 |
1
|
Developmental and epileptic encephalopathy, 42
|
1
|
0 |
0 |
0 |
0 |
1
|
Dilated cardiomyopathy 1R
|
0 |
1
|
0 |
0 |
0 |
1
|
Distal arthrogryposis type 2B1
|
1
|
0 |
0 |
0 |
0 |
1
|
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
|
1
|
0 |
0 |
0 |
0 |
1
|
Familial focal epilepsy with variable foci
|
0 |
0 |
1
|
0 |
0 |
1
|
Gorham-Stout disease
|
0 |
0 |
1
|
0 |
0 |
1
|
Hereditary sensory and autonomic neuropathy type 6
|
1
|
0 |
0 |
0 |
0 |
1
|
Hereditary spastic paraplegia 4
|
0 |
1
|
0 |
0 |
0 |
1
|
Hereditary spherocytosis type 1
|
1
|
0 |
0 |
0 |
0 |
1
|
Heterotopia, periventricular, X-linked dominant
|
1
|
0 |
0 |
0 |
0 |
1
|
Hypertrophic cardiomyopathy 26
|
0 |
0 |
1
|
0 |
0 |
1
|
Immunodeficiency 104
|
1
|
0 |
0 |
0 |
0 |
1
|
Intellectual disability, autosomal dominant 5
|
0 |
1
|
0 |
0 |
0 |
1
|
Kapur-Toriello syndrome
|
0 |
0 |
1
|
0 |
0 |
1
|
Klippel-Trenaunay-like-Syndrome
|
1
|
0 |
0 |
0 |
0 |
1
|
Lethal congenital glycogen storage disease of heart
|
1
|
0 |
0 |
0 |
0 |
1
|
Lissencephaly due to TUBA1A mutation
|
0 |
1
|
0 |
0 |
0 |
1
|
Long QT syndrome 1
|
1
|
0 |
0 |
0 |
0 |
1
|
Macrocephaly-developmental delay syndrome
|
0 |
0 |
1
|
0 |
0 |
1
|
Marfan syndrome
|
1
|
0 |
0 |
0 |
0 |
1
|
Microcephaly
|
0 |
0 |
1
|
0 |
0 |
1
|
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
|
1
|
0 |
0 |
0 |
0 |
1
|
Monocytopenia with susceptibility to infections
|
1
|
0 |
0 |
0 |
0 |
1
|
Neonatal cardiomyopathy
|
0 |
0 |
1
|
0 |
0 |
1
|
Neurodegeneration with brain iron accumulation 5
|
0 |
1
|
0 |
0 |
0 |
1
|
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
|
0 |
1
|
0 |
0 |
0 |
1
|
Noonan syndrome 2
|
0 |
0 |
1
|
0 |
0 |
1
|
O'Donnell-Luria-Rodan syndrome
|
1
|
0 |
0 |
0 |
0 |
1
|
Paroxysmal familial ventricular fibrillation
|
0 |
1
|
0 |
0 |
0 |
1
|
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
|
1
|
0 |
0 |
0 |
0 |
1
|
Rhizomelic limb shortening with dysmorphic features
|
1
|
0 |
0 |
0 |
0 |
1
|
Severe combined immunodeficiency due to CTPS1 deficiency
|
1
|
0 |
0 |
0 |
0 |
1
|
Spondyloepimetaphyseal dysplasia, PAPSS2 type
|
1
|
0 |
0 |
0 |
0 |
1
|
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health behavior solely on the basis of information contained on
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Institutes of Health independently verfies the submitted
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