Case: Patient #16, Male

DiseaseAssertion: UCD/OTCD

FamilyInfo: N/A

CasePresentingHPOs: Neonatal onset (HP:0003623), Hyperammonemia (HP:0001987)

CaseHPOFreeText:

CaseNOTHPOs:

CaseNOTHPOFreeText:

CasePreviousTesting: N/A

Variant: NM_000531.6: c.77+2dupT

ClinVarID: 567293

CAID: CA891844248

gnomAD:

Case: Patient #50, Male

DiseaseAssertion: UCD/OTCD

FamilyInfo: N/A

CasePresentingHPOs: Neonatal onset (HP:0003623), Hyperammonemia (HP:0001987)

CaseHPOFreeText:

CaseNOTHPOs:

CaseNOTHPOFreeText:

CasePreviousTesting: N/A

Variant: NM_000531.6: c.174G>A (p.Trp58*)

ClinVarID: 97127

CAID: CA224490

gnomAD:

Case: Patient #85, Male

DiseaseAssertion: UCD/OTCD

FamilyInfo: N/A

CasePresentingHPOs:

CaseHPOFreeText:

CaseNOTHPOs: Late Onset

CaseNOTHPOFreeText: Milder phenotype

CasePreviousTesting: N/A

Variant: NM_000531.6: c.298+1G>T

ClinVarID: 97160

CAID: CA224544

gnomAD:

Case: Patient #32, Female

DiseaseAssertion: UCD/OTCD

FamilyInfo: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText:

CaseNOTHPOs:

CaseNOTHPOFreeText:

CasePreviousTesting: N/A

Variant: NM_000531.6: c.140dup (p.(Asn47LysfsTer8))

ClinVarID:

CAID:

gnomAD:

Case: Patient #7, Female

DiseaseAssertion: UCD/OTCD

FamilyInfo: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText:

CaseNOTHPOs:

CaseNOTHPOFreeText:

CasePreviousTesting: N/A

Variant: NM_000531.6: c.29_32del (p.Asn10fs)

ClinVarID: 97157

CAID: CA224540

gnomAD:

Gene Name: OTC (ornithine transcarbamylase)

Case: Patient #15, Female

DiseaseAssertion: UCD/OTCD

FamilyInfo: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText:

CaseNOTHPOs:

CaseNOTHPOFreeText:

CasePreviousTesting:

Variant: NM_000531.6: c.77+1G>A

ClinVarID: 97313

CAID: CA224773

gnomAD:

Case: patient #273, Male

Disease Assertion: UCD/OTCD

Family Info: NA

Case Presenting HPOs: Neonatal onset (HP:0003623)

Case HPO FreeText:

Case NOT HPOs:

Case NOT HPO Free Text:

Case Previous Testing: NA

Supplemental Data: Supplemental table file Notes:

Variant: NM_000531.6: c.818del (p.Glu273Glyfs*16)

ClinVarID: 97338

CAID: CA224807

gnomAD:

Gene Name: OTC (ornithine transcarbamylase)