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 |
affects |
total |
34
|
34
|
21
|
1
|
0 |
1
|
91
|
Gene and significance breakdown #
Total genes and gene combinations: 63
Condition and significance breakdown #
Condition |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
affects |
total |
Neonatal intrahepatic cholestasis due to citrin deficiency
|
2
|
1
|
3
|
0 |
0 |
6
|
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
|
3
|
1
|
0 |
0 |
0 |
4
|
Hypogonadotropic hypogonadism 1 with or without anosmia
|
1
|
3
|
0 |
0 |
0 |
4
|
Kabuki syndrome 1
|
2
|
1
|
0 |
1
|
0 |
4
|
Peutz-Jeghers syndrome
|
0 |
3
|
0 |
0 |
0 |
3
|
Charlevoix-Saguenay spastic ataxia
|
0 |
0 |
2
|
0 |
0 |
2
|
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
|
2
|
0 |
0 |
0 |
0 |
2
|
Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
|
0 |
1
|
1
|
0 |
0 |
2
|
Hypogonadotropic hypogonadism 5 with or without anosmia
|
1
|
1
|
0 |
0 |
0 |
2
|
Intestinal hypomagnesemia 1
|
1
|
1
|
0 |
0 |
0 |
2
|
Knobloch syndrome
|
1
|
1
|
0 |
0 |
0 |
2
|
Multiple epiphyseal dysplasia type 1; Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
|
0 |
1
|
1
|
0 |
0 |
2
|
Ornithine carbamoyltransferase deficiency
|
1
|
1
|
0 |
0 |
0 |
2
|
Renal carnitine transport defect
|
1
|
1
|
0 |
0 |
0 |
2
|
Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome
|
1
|
0 |
1
|
0 |
0 |
2
|
Thyroid hormone resistance, generalized, autosomal dominant
|
1
|
1
|
0 |
0 |
0 |
2
|
Type 2 diabetes mellitus
|
1
|
0 |
0 |
0 |
1
|
2
|
46,XY sex reversal 1
|
0 |
1
|
0 |
0 |
0 |
1
|
46,XY sex reversal 3
|
0 |
1
|
0 |
0 |
0 |
1
|
46,XY sex reversal 4
|
0 |
1
|
0 |
0 |
0 |
1
|
46,XY sex reversal 5
|
0 |
0 |
1
|
0 |
0 |
1
|
46,XY sex reversal 6
|
0 |
1
|
0 |
0 |
0 |
1
|
46,XY sex reversal 7
|
0 |
1
|
0 |
0 |
0 |
1
|
Adrenoleukodystrophy
|
0 |
0 |
1
|
0 |
0 |
1
|
Androgen resistance syndrome
|
0 |
1
|
0 |
0 |
0 |
1
|
Angelman syndrome
|
1
|
0 |
0 |
0 |
0 |
1
|
Arthrogryposis, renal dysfunction, and cholestasis 1
|
1
|
0 |
0 |
0 |
0 |
1
|
Bardet-Biedl syndrome 7
|
0 |
1
|
0 |
0 |
0 |
1
|
Bardet-Biedl syndrome 9
|
1
|
0 |
0 |
0 |
0 |
1
|
Borjeson-Forssman-Lehmann syndrome
|
0 |
0 |
1
|
0 |
0 |
1
|
Central core myopathy
|
0 |
0 |
1
|
0 |
0 |
1
|
Congenital adrenal hypoplasia, X-linked
|
0 |
1
|
0 |
0 |
0 |
1
|
Deficiency of acetyl-CoA acetyltransferase
|
0 |
1
|
0 |
0 |
0 |
1
|
Diabetes mellitus type 1
|
0 |
1
|
0 |
0 |
0 |
1
|
Episodic kinesigenic dyskinesia 1
|
1
|
0 |
0 |
0 |
0 |
1
|
Familial hypokalemia-hypomagnesemia
|
1
|
0 |
0 |
0 |
0 |
1
|
Glucocorticoid deficiency with achalasia
|
0 |
0 |
1
|
0 |
0 |
1
|
Glutaric aciduria, type 1
|
1
|
0 |
0 |
0 |
0 |
1
|
HSD10 mitochondrial disease
|
0 |
1
|
0 |
0 |
0 |
1
|
Holocarboxylase synthetase deficiency
|
0 |
1
|
0 |
0 |
0 |
1
|
Hypogonadotropic hypogonadism 2 with or without anosmia
|
0 |
0 |
1
|
0 |
0 |
1
|
Hypogonadotropic hypogonadism 3 with or without anosmia
|
0 |
1
|
0 |
0 |
0 |
1
|
Hypophosphatemic nephrolithiasis/osteoporosis 1
|
1
|
0 |
0 |
0 |
0 |
1
|
Hypospadias 2, X-linked
|
1
|
0 |
0 |
0 |
0 |
1
|
Maturity-onset diabetes of the young type 2
|
1
|
0 |
0 |
0 |
0 |
1
|
Mitochondrial complex I deficiency; Leigh syndrome
|
0 |
0 |
1
|
0 |
0 |
1
|
Myhre syndrome
|
0 |
0 |
1
|
0 |
0 |
1
|
Neurofibromatosis, type 1
|
0 |
0 |
1
|
0 |
0 |
1
|
Noonan syndrome 4
|
0 |
0 |
1
|
0 |
0 |
1
|
Orofaciodigital syndrome type 6; Joubert syndrome 17
|
0 |
1
|
0 |
0 |
0 |
1
|
Osteochondritis dissecans; Spondyloepiphyseal dysplasia, Kimberley type
|
0 |
0 |
1
|
0 |
0 |
1
|
Osteogenesis imperfecta type I
|
1
|
0 |
0 |
0 |
0 |
1
|
Osteogenesis imperfecta, recessive perinatal lethal
|
0 |
1
|
0 |
0 |
0 |
1
|
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
|
0 |
0 |
1
|
0 |
0 |
1
|
Propionic acidemia
|
1
|
0 |
0 |
0 |
0 |
1
|
Rubinstein-Taybi syndrome due to CREBBP mutations
|
0 |
1
|
0 |
0 |
0 |
1
|
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
|
0 |
1
|
0 |
0 |
0 |
1
|
Smith-Magenis syndrome
|
0 |
0 |
1
|
0 |
0 |
1
|
Syndromic X-linked intellectual disability Najm type
|
1
|
0 |
0 |
0 |
0 |
1
|
Type 2 diabetes mellitus; Maturity-onset diabetes of the young type 13
|
1
|
0 |
0 |
0 |
0 |
1
|
Vitamin D-dependent rickets, type 1
|
1
|
0 |
0 |
0 |
0 |
1
|
Weill-Marchesani syndrome 1
|
1
|
0 |
0 |
0 |
0 |
1
|
Wiedemann-Steiner syndrome
|
1
|
0 |
0 |
0 |
0 |
1
|
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