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