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 |
74
|
1
|
14
|
0 |
0 |
89
|
Gene and significance breakdown #
Total genes and gene combinations: 65
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
total |
A2ML1
|
1
|
0 |
8
|
9
|
VPS13B
|
7
|
0 |
0 |
7
|
TANGO2
|
3
|
0 |
0 |
3
|
CLPP
|
2
|
0 |
0 |
2
|
FBXL4
|
2
|
0 |
0 |
2
|
GALC
|
1
|
1
|
0 |
2
|
IL7R
|
2
|
0 |
0 |
2
|
KARS1
|
2
|
0 |
0 |
2
|
RMND1
|
1
|
0 |
1
|
2
|
TBC1D24
|
2
|
0 |
0 |
2
|
TBCK
|
2
|
0 |
0 |
2
|
ACBD5
|
1
|
0 |
0 |
1
|
ADAMTS16, ADCY2, AHRR, ANKH, ANKRD33B, ATPSCKMT, BASP1, BRD9, CCDC127, CCT5, CDH12, CDH18, CEP72, CFAP90, CLPTM1L, CMBL, CTNND2, DAP, DNAH5, EXOC3, FASTKD3, FBXL7, ICE1, IRX1, IRX2, IRX2-DT, IRX4, LINC01194, LPCAT1, LRRC14B, MARCHF11, MARCHF6, MED10, MRPL36, MTRR, MYO10, NDUFS6, NKD2, NSUN2, OTULIN, OTULIN-DT, OTULINL, PDCD6, PLEKHG4B, RETREG1, ROPN1L, SDHA, SEMA5A, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SRD5A1, TAS2R1, TENT4A, TERT, TPPP, TRIO, TRIP13, UBE2QL1, ZDHHC11, ZDHHC11B, ZNF622
|
1
|
0 |
0 |
1
|
ADCY1
|
1
|
0 |
0 |
1
|
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6L, DGCR8, ESS2, FAM230A, GGTLC3, GNB1L, GP1BB, GSC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74
|
1
|
0 |
0 |
1
|
ALOXE3
|
1
|
0 |
0 |
1
|
ALOXE3, GUCY2D
|
1
|
0 |
0 |
1
|
ANGPT2, MCPH1
|
1
|
0 |
0 |
1
|
ARSB
|
1
|
0 |
0 |
1
|
ASF1A, CALHM4, CALHM5, CALHM6, CEP85L, DCBLD1, DSE, FAM162B, FAM184A, GOPC, GPRC6A, KPNA5, MAN1A1, MCM9, NUS1, PLN, RFX6, ROS1, RSPH4A, RWDD1, SLC35F1, TRAPPC3L, VGLL2, ZUP1
|
1
|
0 |
0 |
1
|
ASF1A, CEP85L, DCBLD1, FAM184A, GOPC, MCM9, NUS1, PLN, SLC35F1
|
1
|
0 |
0 |
1
|
ASPA, CTNS, EMC6, HASPIN, ITGAE, P2RX5, SHPK, TAX1BP3, TRPV1, TRPV3
|
0 |
0 |
1
|
1
|
ATF6
|
1
|
0 |
0 |
1
|
C8orf17, TRAPPC9
|
1
|
0 |
0 |
1
|
CALHM4, CALHM5, CALHM6, COL10A1, DCBLD1, DSE, FAM162B, FRK, GOPC, GPRC6A, HDAC2, HS3ST5, KPNA5, LAMA4, MARCKS, NT5DC1, NUS1, RFPL4B, RFX6, ROS1, RSPH4A, RWDD1, TRAPPC3L, TSPYL1, TSPYL4, VGLL2, ZUP1
|
1
|
0 |
0 |
1
|
CLCNKB, FAM131C
|
1
|
0 |
0 |
1
|
CLCNKB, LOC106501713
|
1
|
0 |
0 |
1
|
CLN3
|
1
|
0 |
0 |
1
|
CLPP, LOC130063288
|
1
|
0 |
0 |
1
|
CNTNAP2
|
1
|
0 |
0 |
1
|
COQ8A
|
1
|
0 |
0 |
1
|
CRX
|
1
|
0 |
0 |
1
|
CRYL1, GJB6
|
1
|
0 |
0 |
1
|
DDR2
|
1
|
0 |
0 |
1
|
DNAH5
|
1
|
0 |
0 |
1
|
DSE, TSPYL1
|
1
|
0 |
0 |
1
|
ECE1
|
0 |
0 |
1
|
1
|
EFHC1, IL17A, IL17F, MCM3, MIR133B, MIR206, PAQR8, PKHD1, TRAM2
|
1
|
0 |
0 |
1
|
ETHE1
|
1
|
0 |
0 |
1
|
FAM177A1
|
0 |
0 |
1
|
1
|
FBP1
|
1
|
0 |
0 |
1
|
ITGB4
|
1
|
0 |
0 |
1
|
ITGB6
|
1
|
0 |
0 |
1
|
KRT25
|
1
|
0 |
0 |
1
|
LARGE1
|
1
|
0 |
0 |
1
|
LOC101927919, LOC126859772, LOC129389624, LOC129389625, LOC129997069, NUS1, SLC35F1
|
1
|
0 |
0 |
1
|
LOC101927919, LOC129389624, LOC129389625, LOC129997069, NUS1
|
1
|
0 |
0 |
1
|
LOC105377967, LOC129997070, SLC35F1
|
0 |
0 |
1
|
1
|
LRBA
|
1
|
0 |
0 |
1
|
LRBA, MAB21L2
|
1
|
0 |
0 |
1
|
MCPH1
|
1
|
0 |
0 |
1
|
MPLKIP
|
1
|
0 |
0 |
1
|
MTRFR
|
1
|
0 |
0 |
1
|
P2RX5-TAX1BP3, TAX1BP3
|
0 |
0 |
1
|
1
|
PKHD1
|
1
|
0 |
0 |
1
|
PLA2G6
|
1
|
0 |
0 |
1
|
PRDM12
|
1
|
0 |
0 |
1
|
PREPL, SLC3A1
|
1
|
0 |
0 |
1
|
S1PR2
|
1
|
0 |
0 |
1
|
SERAC1
|
1
|
0 |
0 |
1
|
SLCO1B1, SLCO1B3, SLCO1B7
|
1
|
0 |
0 |
1
|
SPTA1
|
1
|
0 |
0 |
1
|
TGM1
|
1
|
0 |
0 |
1
|
TRIM37
|
1
|
0 |
0 |
1
|
WWOX
|
1
|
0 |
0 |
1
|
Condition and significance breakdown #
Condition |
pathogenic |
likely pathogenic |
uncertain significance |
total |
Nonsyndromic otitis media
|
1
|
0 |
8
|
9
|
Cohen syndrome
|
7
|
0 |
0 |
7
|
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
|
3
|
0 |
0 |
3
|
Autosomal recessive congenital ichthyosis 3
|
2
|
0 |
0 |
2
|
Autosomal recessive nonsyndromic hearing loss 86
|
2
|
0 |
0 |
2
|
Autosomal recessive nonsyndromic hearing loss 89
|
2
|
0 |
0 |
2
|
Autosomal recessive polycystic kidney disease
|
2
|
0 |
0 |
2
|
Bartter disease type 3
|
2
|
0 |
0 |
2
|
Combined immunodeficiency due to LRBA deficiency
|
2
|
0 |
0 |
2
|
Combined oxidative phosphorylation defect type 11
|
1
|
0 |
1
|
2
|
Galactosylceramide beta-galactosidase deficiency
|
1
|
1
|
0 |
2
|
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
|
2
|
0 |
0 |
2
|
Immunodeficiency 104
|
2
|
0 |
0 |
2
|
Microcephaly 1, primary, autosomal recessive
|
2
|
0 |
0 |
2
|
Mitochondrial DNA depletion syndrome 13
|
2
|
0 |
0 |
2
|
Perrault syndrome 3
|
2
|
0 |
0 |
2
|
Primary familial dilated cardiomyopathy
|
0 |
0 |
2
|
2
|
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
|
1
|
0 |
0 |
1
|
5p partial monosomy syndrome
|
1
|
0 |
0 |
1
|
Achromatopsia 7
|
1
|
0 |
0 |
1
|
Adolescent alopeciam dentogingival abnormalitites and intellectual disability
|
1
|
0 |
0 |
1
|
Autistic behavior; Delayed speech and language development; Generalized non-motor (absence) seizure
|
1
|
0 |
0 |
1
|
Autosomal recessive ataxia due to ubiquinone deficiency
|
1
|
0 |
0 |
1
|
Autosomal recessive congenital ichthyosis 1
|
1
|
0 |
0 |
1
|
Autosomal recessive hearing impairment with normal menstrual cycles
|
1
|
0 |
0 |
1
|
Autosomal recessive nonsyndromic hearing loss 1B
|
1
|
0 |
0 |
1
|
Autosomal recessive nonsyndromic hearing loss 44
|
1
|
0 |
0 |
1
|
Autosomal recessive nonsyndromic hearing loss 68
|
1
|
0 |
0 |
1
|
Combined oxidative phosphorylation defect type 7
|
1
|
0 |
0 |
1
|
Congenital insensitivity to pain-hypohidrosis syndrome
|
1
|
0 |
0 |
1
|
Cortical dysplasia-focal epilepsy syndrome
|
1
|
0 |
0 |
1
|
Cystinuria; Myasthenic syndrome, congenital, 22
|
1
|
0 |
0 |
1
|
Delayed speech and language development; Microcephaly; Intellectual disability; Tremor
|
1
|
0 |
0 |
1
|
Developmental and epileptic encephalopathy, 28
|
1
|
0 |
0 |
1
|
DiGeorge syndrome
|
1
|
0 |
0 |
1
|
Dysmorphic features; Delayed speech and language development; Hypotonia
|
1
|
0 |
0 |
1
|
Ethylmalonic encephalopathy
|
1
|
0 |
0 |
1
|
Fructose-biphosphatase deficiency
|
1
|
0 |
0 |
1
|
Global developmental delay; Dysmorphic features; Hypotonia
|
0 |
0 |
1
|
1
|
Hereditary spherocytosis type 3
|
1
|
0 |
0 |
1
|
Hirschsprung disease, cardiac defects, and autonomic dysfunction
|
0 |
0 |
1
|
1
|
Hypotrichosis 8
|
1
|
0 |
0 |
1
|
Infantile neuroaxonal dystrophy
|
1
|
0 |
0 |
1
|
Intellectual disability, autosomal recessive 13
|
1
|
0 |
0 |
1
|
Intellectual disability; Tremor; generalized epilepsy with atypical absence and tonic/myoclonic seizures
|
1
|
0 |
0 |
1
|
Intellectual disability; Tremor; generalized epilepsy with atypical absence seizures
|
1
|
0 |
0 |
1
|
Junctional epidermolysis bullosa with pyloric atresia
|
1
|
0 |
0 |
1
|
Leber congenital amaurosis 7
|
1
|
0 |
0 |
1
|
Macrocephaly; Dolichocephaly; Intellectual disability; Mild obesity
|
0 |
0 |
1
|
1
|
Mucopolysaccharidosis type 6
|
1
|
0 |
0 |
1
|
Mulibrey nanism syndrome
|
1
|
0 |
0 |
1
|
Muscular dystrophy-dystroglycanopathy type B6
|
1
|
0 |
0 |
1
|
Neuronal ceroid lipofuscinosis 3
|
1
|
0 |
0 |
1
|
Primary ciliary dyskinesia 3
|
1
|
0 |
0 |
1
|
Retinal dystrophy with leukodystrophy
|
1
|
0 |
0 |
1
|
Rotor syndrome
|
1
|
0 |
0 |
1
|
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
|
1
|
0 |
0 |
1
|
Sudden infant death-dysgenesis of the testes syndrome
|
1
|
0 |
0 |
1
|
Trichothiodystrophy 4, nonphotosensitive
|
1
|
0 |
0 |
1
|
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