Table 1: Results of identification of pathogenic variants in exomic sequencing.
Gene |
Variant |
Chr |
Position |
Type |
Genotype |
Exon |
Effect |
Amino Acids |
Sift |
PolyPhen |
ClinVarRS |
ClinVar Significancia |
ClinVar Disease Name |
BSND |
G > G/A |
1 |
55464998 |
Snv |
het |
Yes |
missense_variant |
G/R |
Deleterious(0.04) |
probably_damaging |
Rs74315289 |
Pathogenic |
Bartter_syndrome_type_4 |
CP |
G > G/A |
3 |
148916215 |
Snv |
het |
Yes |
missense_variant |
T/I |
Deleterious(0) |
possible_damaging |
Rs61733458 |
Pathogenic |
Deficiency_of_ferroxidase |
SERPINE1 |
G > G/A |
7 |
100771717 |
Snv |
het |
Yes |
missense_variant |
A/T |
Deleterious(0.49) |
benign(0.069) |
Rs6092 |
Pathogenic |
Plasminogen_activator_inhibiter_type_1_deficiency |
CYP1182 |
A > A/G |
8 |
143994266 |
Snv |
het |
Yes |
missense_variant |
V/A |
Deleterious(0.41) |
benign(0.006) |
Rs61757294 |
Pathogenic |
Corticosterone_methyloxidase_type_2_deficiency |
PTH |
G > G/T |
11 |
13514053 |
Snv |
het |
Yes |
synonymous_variant |
R |
|
|
Rs6256 |
Pathogenic |
Primary_hyperparathyrodism |
SCNN1A |
A > A/G |
12 |
6458350 |
Snv |
het |
Yes |
missense_variant |
W/R |
Deleterious(0) |
probably_damaging |
Rs5742912 |
Pathogenic |
Bronchiectasis_with_or_without_elevated_sweat_chloride-2 |
PANK2 |
G > A/A |
20 |
3899342 |
Snv |
hom |
Yes |
upstream_gene_variant |
|
|
|
Rs137852959 |
Pathogenic |
Neurodegeneration_with_brain_iron_accumulation |
COL18A1 |
G > G/A |
21 |
46931109 |
Snv |
het |
Yes |
downstream_gene-variant |
|
|
|
Rs12483377 |
Pathogenic |
Knobloch_syndrome_1 |