Case14

HPOsFreeText: See Group Phenotypes

CasePreviousTesting: Sanger sequencing

CaseMethod1: Sanger sequencing and PCR Amplification

CaseMethod2: Whole Exome Sequencing (WES)

CaseGenotypingMethod: Patients were previously confirmed with Pompe disease by Sanger sequencing to capture the pathogenic variants. The process was repeated as part of the study taking care to amplify the coding regions and exon/intron boundaries to compare with the WES results afterwards.

Variant: NM_000152.4:c.2560C>T (p.Arg854*)

ClinVar: 4034 https://www.ncbi.nlm.nih.gov/clinvar/variation/4034/

gnomAD: African 1.891e-3, Overall 2.090e-4 http://gnomad.broadinstitute.org/variant/17-78092070-C-T

CaseAddInfo: Infantile Onset Pompe Disease, Patient is homozygous for this variant, 6 more patients have the same genotype

Case13

HPOsFreeText: See Group Phenotypes

CasePreviousTesting: Sanger sequencing

CaseMethod1: Sanger sequencing and PCR Amplification

CaseMethod2: Whole Exome Sequencing (WES)

CaseGenotypingMethod: Patients were previously confirmed with Pompe disease by Sanger sequencing to capture the pathogenic variants. The process was repeated as part of the study taking care to amplify the coding regions and exon/intron boundaries to compare with the WES results afterwards.

Variant1: NM_000152.4:c.2560C>T (p.Arg854*)

ClinVar: 4034 https://www.ncbi.nlm.nih.gov/clinvar/variation/4034/

gnomAD: African 1.891e-3, Overall 2.090e-4 http://gnomad.broadinstitute.org/variant/17-78092070-C-T

Variant2: NM_000152.4:c.1292_1295dupTGCA (p.Gln433Alafs*74)

ClinVar: 552165 https://www.ncbi.nlm.nih.gov/clinvar/variation/552165/

gnomAD: African 6.992e-5, Overall 4.293e-6 http://gnomad.broadinstitute.org/variant/17-78082592-C-CTGCA

CaseAddInfo: Infantile Onset Pompe Disease

Case23

HPOsFreeText: See Group Phenotypes

CasePreviousTesting: Sanger sequencing

CaseMethod1: Sanger sequencing and PCR Amplification

CaseMethod2: Whole Exome Sequencing (WES)

CaseGenotypingMethod: Patients were previously confirmed with Pompe disease by Sanger sequencing to capture the pathogenic variants. The process was repeated as part of the study taking care to amplify the coding regions and exon/intron boundaries to compare with the WES results afterwards.

Variant1: NM_000152.4:c.2560C>T (p.Arg854*)

ClinVar: 4034 https://www.ncbi.nlm.nih.gov/clinvar/variation/4034/

gnomAD: African 1.891e-3, Overall 2.090e-4 http://gnomad.broadinstitute.org/variant/17-78092070-C-T

Variant2: NM_000152.4:c.2236T>C (p.Trp746Arg)

ClinVar: 499293 https://www.ncbi.nlm.nih.gov/clinvar/variation/499293/

gnomAD: Not in gnomAD

CaseAddInfo: Infantile Onset Pompe Disease

Case22

HPOsFreeText: See Group Phenotypes

CasePreviousTesting: Sanger sequencing

CaseMethod1: Sanger sequencing and PCR Amplification

CaseMethod2: Whole Exome Sequencing (WES)

CaseGenotypingMethod: Patients were previously confirmed with Pompe disease by Sanger sequencing to capture the pathogenic variants. The process was repeated as part of the study taking care to amplify the coding regions and exon/intron boundaries to compare with the WES results afterwards.

Variant1: NM_000152.4:c.2560C>T (p.Arg854*)

ClinVar: 4034 https://www.ncbi.nlm.nih.gov/clinvar/variation/4034/

gnomAD: African 1.891e-3, Overall 2.090e-4 http://gnomad.broadinstitute.org/variant/17-78092070-C-T

Variant2: NM_000152.4:c.1710C>G (p.Asn570Lys)

ClinVar: 555153 https://www.ncbi.nlm.nih.gov/clinvar/variation/555153/

gnomAD: African 1.149e-4, Overall 3.187e-5 http://gnomad.broadinstitute.org/variant/17-78085855-C-G

CaseAddInfo: Infantile Onset Pompe Disease

Case12

HPOsFreeText: See Group Phenotypes

CasePreviousTesting: Sanger sequencing

CaseMethod1: Sanger sequencing and PCR Amplification

CaseMethod2: Whole Exome Sequencing (WES)

CaseGenotypingMethod: Patients were previously confirmed with Pompe disease by Sanger sequencing to capture the pathogenic variants. The process was repeated as part of the study taking care to amplify the coding regions and exon/intron boundaries to compare with the WES results afterwards.

Variant1: NM_000152.4:c.2560C>T (p.Arg854*)

ClinVar: 4034 https://www.ncbi.nlm.nih.gov/clinvar/variation/4034/

gnomAD: African 1.891e-3, Overall 2.090e-4 http://gnomad.broadinstitute.org/variant/17-78092070-C-T

Variant2: NM_000152.4:c.1654delC (p.Leu552Serfs*26)

CAID: CA658795262 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.4%3Ac.1654delC

gnomAD: Not in gnomAD

CaseAddInfo: Infantile Onset Pompe Disease

Case77

HPOsFreeText: See Group Phenotypes

CasePreviousTesting: Sanger sequencing

CaseMethod1: Sanger sequencing and PCR Amplification

CaseMethod2: Whole Exome Sequencing (WES)

CaseGenotypingMethod: Patients were previously confirmed with Pompe disease by Sanger sequencing to capture the pathogenic variants. The process was repeated as part of the study taking care to amplify the coding regions and exon/intron boundaries to compare with the WES results afterwards.

Variant1: NM_000152.4:c.2560C>T (p.Arg854*)

ClinVar: 4034 https://www.ncbi.nlm.nih.gov/clinvar/variation/4034/

gnomAD: African 1.891e-3, Overall 2.090e-4 http://gnomad.broadinstitute.org/variant/17-78092070-C-T

Variant2: NM_000152.4:c.-32-13T>G

ClinVar: 4027 https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/

gnomAD: Ashkenazi Jewish 5.541e-3, Overall 3.401e-3 http://gnomad.broadinstitute.org/variant/17-78078341-T-G

CaseAddInfo: Adult Late Onset Pompe Disease

Case21

HPOsFreeText: See Group Phenotypes

CasePreviousTesting: Sanger sequencing

CaseMethod1: Sanger sequencing and PCR Amplification

CaseMethod2: Whole Exome Sequencing (WES)

CaseGenotypingMethod: Patients were previously confirmed with Pompe disease by Sanger sequencing to capture the pathogenic variants. The process was repeated as part of the study taking care to amplify the coding regions and exon/intron boundaries to compare with the WES results afterwards.

Variant1: NM_000152.4:c.2560C>T (p.Arg854*)

ClinVar: 4034 https://www.ncbi.nlm.nih.gov/clinvar/variation/4034/

gnomAD: African 1.891e-3, Overall 2.090e-4 http://gnomad.broadinstitute.org/variant/17-78092070-C-T

Variant2: NM_000152.4:c.1129G>C (p.Gly377Arg)

ClinVar: 497033 https://www.ncbi.nlm.nih.gov/clinvar/variation/497033/

gnomAD: European (Non-Finnish) 2.356e-5, Overall 1.072e-5 http://gnomad.broadinstitute.org/variant/17-78082341-G-C

CaseAddInfo: Infantile Onset Pompe Disease

Subject III-10: female

CasePresentingHPOs:

HPOsFreeText: DBS neutral/acid = 38.1

CaseNotHPOs:

NotHPOsFreeText:

CaseAddInfo: asymptomatic, asserted carrier status

CasePMIDs:

CasePreviousTesting: DBS

CaseGenotypingMethod: GAA genotyping

Variant: NM_000152.4(GAA):c.2560C>T (p.Arg854Ter)

ClinVar: 4034, https://www.ncbi.nlm.nih.gov/clinvar/variation/4034/

gnomAD: 0.0002090, http://gnomad.broadinstitute.org/variant/17-78092070-C-T

Subject II-8: male, 50yo

CasePresentingHPOs: HP:0002094, HP:0002015, HP:0003323, HP:0002878, HP:0006532, HP:0000822, HP:0005978, HP:0003119, HP:0004325, HP:0009055, HP:0012533, HP:0002540, HP:0003698, HP:0030829, HP:0003236, HP:0010899, HP:0003445, HP:0001271

HPOsFreeText: Previously hospitalized 3 times, during the last of which he received a tracheostomy and was dependent on a ventilator. When study began, he was being treated with IV gamma-globulin therapy for likely chronic inflammatory demyelinating polyneuropathy. Motor examination showed symmetrical 2/5 proximal and 4/5 distal strength. Absent reflexes of bilateral biceps, triceps, patellar, and ankle jerk. Allodynia in soles and distal parts of both legs, normal cardiologic examination, bilateral reduced breath sounds, CK = 132 IU/L, aspartate aminotransferase = 46 IU/L, denervation and spontaneous activity with complex repetitive discharges on muscles associated with cranial nerves and cervical, thoracic, and lumbar areas. Demyelinating, mixed sensorimotor polyneuropathy with absent F wave, reduced GAA activity. 6mo after discharge with tracheostomy and ventilator support patient died from respiratory failure due to pulmonary infection.

CaseNotHPOs: HP:0007185, HP:0001291, HP:0003487, HP:0002370, HP:0011675

NotHPOsFreeText: Absent Hoffmann signs, no myotonic phenomenon

CaseAddInfo: Symptoms (dyspnea, dysphagia, and muscle weakness) had been occurring for 2yrs prior to initiation of case study. based on pedigree, it is likely this patients variants are in trans

CasePMIDs:

CasePreviousTesting: neurological examination, motor examination, cardiologic eamination, pulmonary evaluation, lab studies (CK, AST), ECG, needle electromyogram, nerve conduction studies, DBS

CaseGenotypingMethod: genetic analysis (method not described)

Variant1: NM_000152.4(GAA):c.-32-13T>G

Clinvar: 4027, https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/

gnomAD: 0.003582, http://exac.broadinstitute.org/variant/17-78078341-T-G

Variant2: NM_000152.4(GAA):c.2560C>T (p.Arg854Ter)

ClinVar: 4034, https://www.ncbi.nlm.nih.gov/clinvar/variation/4034/

gnomAD: 0.0002090, http://gnomad.broadinstitute.org/variant/17-78092070-C-T

Variant3: NM_000152.4(GAA):c.1551+42G>A

ClinVar: 496841, https://www.ncbi.nlm.nih.gov/clinvar/variation/496841/

gnomAD: 0.003009, http://gnomad.broadinstitute.org/variant/17-78084681-G-A

Subject III-9: Female

CasePresentingHPOs:

HPOsFreeText: DBS neutral/acid = 36.0

CaseNotHPOs:

NotHPOsFreeText:

CaseAddInfo: asymptomatic, asserted carrier status

CasePMIDs:

CasePreviousTesting: DBS

CaseGenotypingMethod: GAA Genotyping

Variant: NM_000152.4(GAA):c.2560C>T (p.Arg854Ter)

ClinVar: 4034, https://www.ncbi.nlm.nih.gov/clinvar/variation/4034/

gnomAD: 0.0002090, http://gnomad.broadinstitute.org/variant/17-78092070-C-T

Subject II-6: female, 56yo

CasePresentingHPOs: HP:0000822, HP:0003701, HP:0001611, HP:0003691, HP:0003700, HP:0009023, HP:0003307, HP:0002515, HP:0040081, HP:0003458

HPOsFreeText: altered DBS, treated with beta-blockers, occasional cramping of lower limbs, muscle atrophy of temporal, deltoids, and thigh muscle extensors, muscle strength was 5/5 proximal and distal for upper limbs and distal for lower limbs, and 4/5 on hip extension, diminished biceps, triceps, patellar, and ankle jerk reflexes. Intact pain, temperature, vibration, proprioception, and coordination. CK = 86 IU/L, AST = 33 IU/L, reduced GAA activity, reduced duration and amplitude of motor unit action potentials (mainly on thigh extensors), normal muscle biopsy

CaseNotHPOs: HP:0001291, HP:0002015, HP:0001618, HP:0003391, HP:0003487

NotHPOsFreeText: no Hoffmann sign, paraspinal complex repetitive discharges

CaseAddInfo: This patient's 5 daughters had DBS and GAA sequencing evaluations, only 2 (III-9 and III-10) had altered DBS and carried GAA variants

CasePMIDs:

CasePreviousTesting: DBS, EMG, muscle biopsy from thigh extensors

CaseGenotypingMethod: GAA genotyping

Variant1: NM_000152.4(GAA):c.-32-13T>G

Clinvar: 4027, https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/

gnomAD: 0.003582, http://exac.broadinstitute.org/variant/17-78078341-T-G

Variant2: NM_000152.4(GAA):c.2560C>T (p.Arg854Ter)

ClinVar: 4034, https://www.ncbi.nlm.nih.gov/clinvar/variation/4034/

gnomAD: 0.0002090, http://gnomad.broadinstitute.org/variant/17-78092070-C-T

Subject II-4: female

CasePresentingHPOs:

HPOsFreeText: normal GAA enzyme values

CaseNotHPOs:

NotHPOsFreeText:

CaseAddInfo: carrier status, clinically asymptomatic

CasePMIDs:

CasePreviousTesting: DBS

CaseGenotypingMethod: GAA genotyping

Variant: NM_000152.4(GAA):c.2560C>T (p.Arg854Ter)

ClinVar: 4034, https://www.ncbi.nlm.nih.gov/clinvar/variation/4034/

gnomAD: 0.0002090, http://gnomad.broadinstitute.org/variant/17-78092070-C-T

Patient 6

Variant1: NM_000152.4(GAA):c.1292_1295dup (p.Gln433Alafs)

ClinVar: 552165, https://www.ncbi.nlm.nih.gov/clinvar/variation/552165/

gnomAD: 0.000004293, http://gnomad.broadinstitute.org/variant/17-78082592-C-CTGCA

Variant2: NM_000152.4(GAA):c.2560C>T (p.Arg854Ter)

ClinVar: 4034, https://www.ncbi.nlm.nih.gov/clinvar/variation/4034/

gnomAD: 0.0002090, http://gnomad.broadinstitute.org/variant/17-78092070-C-T

Patient 1

Variant1: NM_000152.3:c.1654del

CAID: CA658795262, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA658795262

gnomAD: n/a

Variant2: NM_000152.4(GAA):c.2560C>T (p.Arg854Ter)

ClinVar: 4034, https://www.ncbi.nlm.nih.gov/clinvar/variation/4034/#clinical-assertions

gnomAD: 0.0002090, http://gnomad.broadinstitute.org/variant/17-78092070-C-T

Patient 2 - homozygous

Variant: NM_000152.4(GAA):c.2560C>T (p.Arg854Ter)

ClinVar: 4034, https://www.ncbi.nlm.nih.gov/clinvar/variation/4034/#clinical-assertions

gnomAD: 0.0002090, http://gnomad.broadinstitute.org/variant/17-78092070-C-T

Case#: Patient 4, Female, 10 days old at diagnosis, African American

DiseaseAssertion: Pompe disease

FamilyInfo:N/A

CasePresentingHPOs: HP:0009062, HP:0001638

(Infantile axial hypotonia, Cardiomyopathy)

CaseHPOFreeText: Before ERT patient withdraws extremities to stimulation, contractures of large joint of upper and lower extremities, weak grasp. Also patient was invasively ventilated. Baseline – G-tube feeds and continues

Currently patient is off ventilator 10-12 hours a day. Sits with support; and has minimal capacity for weight bearing on lower extremities. G tube feed.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: No GAA measurement

Variant 1: M_000152.5(GAA):c.525del (p.Glu176fs)

ClinVar: 4033

CAID: CA220406

gnomAD: N/A

Variant 2: NM_000152.5(GAA):c.2560C>T (p.Arg854Ter)

ClinVar: 4034

CAID: CA340130

gnomAD: Highest population MAF= 0.001891 (African)

ParentalGenotype:N/A

PreviouslyPublished:N/A

Case#: Patient 7, Female, diagnosed at 3 months old (died at 15 months old), African American

DiseaseAssertion: Pompe disease

FamilyInfo: N/A

CasePresentingHPOs: HP:0001638 (Cardiomyopathy)

CaseHPOFreeText: Previous to ERT patient did not required oxygen support. Patient needed Invasive ventilation at week 38 ERT until death 2 months later.

Previous to ERT and during it patient was unable to independently hold head or sit unsupported.

Previous to ERT NG tube feeds at age 3 months due to aspiration. During ERT patient used a GJ tube

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

Variant: NM_000152.5(GAA):c.2560C>T (p.Arg854Ter)

ClinVar: 4034

CAID: CA340130

gnomAD: Highest population MAF= 0.001891 (African)

ParentalGenotype:N/A

PreviouslyPublished: N/A

Case#: Patient 5, Female, 3.0 months old at diagnosis, African American

DiseaseAssertion: Pompe disease

FamilyInfo: N/A

CasePresentingHPOs: HP:0032988, HP:0001638

(Persistent head lag, Cardiomyopathy)

CaseHPOFreeText:

Previous to ERT patient was invasively ventilated, patient was unable to sit or roll over. NJ feeds started at age 3 months

Currently patient requires Oxygen and BiPAP at night. Stands with support and uses G tube for feeding.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: No GAA measurement

Variant: NM_000152.5(GAA):c.2560C>T (p.Arg854Ter)

ClinVar: 4034

CAID: CA340130

gnomAD: Highest population MAF= 0.001891 (African)

ParentalGenotype: N/A

PreviouslyPublished: N/A

Case#: Patient 3, Gender unknown, age unknown, ethnicity unknown

DiseaseAssertion: Pompe disease

FamilyInfo: N/A

CasePresentingHPOs: HP:0001638, HP:0003756

(Cardiomyopathy, Skeletal myopathy)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: Sequence analysis of the GAA gene was performed in a CLIA and CAP certified laboratory. Cross Reactive Immune reaction was indeterminate in peripheral blood mononuclear cells (PBMCs)

Cross Reactive Immune reaction was negative in Dried blood spots.

Variant: NM_000152.5(GAA):c.2560C>T (p.Arg854Ter)Cite this record

ClinVar: 4034

CAID: CA340130

gnomAD: Highest population MAF= 0.001891 (African)

ParentalGenotype: N/A

PreviouslyPublished:N/A

Case: male, gestational age of 37 weeks and 4 days, birth weight = 3.640kg

CasePresentingHPOs: HP:0001639, HP:0030148, HP:0200128, HP:0001640, HP:0003236, HP:0002910, HP:0002788, HP:0001522, HP:0009051

HPOsFreeText: ventricular septal thickness = 11mm, left ventricular posterior wall thickness = 8-9mm (higher at apical level), CK = 4168 UI/L, glutamic oxaloacetic transaminase = 250 UI/L, normal brain and abdominal ultrasounds, GAA activity = 0.9 μmol/L/h, CRIM positive, treated with ERT and beta-blockers, subsarcolemmal vacuolization of the cardiac muscle, moderate vacuoles in skeletal and smooth muscle, neurons, and glial cells due to glycogen accumulation

CaseNotHPOs: HP:0006673, HP:0001941, HP:0001943

CaseAddInfo: diagnosis of HCM at 48hrs of life, non consanguineous Nigerian parents, no family history of heart disease, admitted to hospital at 2 months due to upper respiratory infection, death due to ventricular fibrillation during central line placement procedure

CasePreviousTesting: (2D) echocardiogram, EKG, laboratory tests, brain and abdominal ultrasounds, DBS

CaseGenotypingMethod: n/a

Variant: NM_000152.4(GAA):c.2560C>T (p.Arg854Ter)

ClinVar: 4034, https://www.ncbi.nlm.nih.gov/clinvar/variation/4034/

gnomAD: 0.0002146, http://exac.broadinstitute.org/variant/17-78092070-C-T

Case#: Subject number 11(L)

DiseaseAssertion: Late Onset Pompe disease

FamilyInfo: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: CK testing: 421 U/L (60-305 U/L is normal)

glucosidase activity: GAA activity (NBS) 0.63 in dried blood spots (>2.10 micromole/L/h is normal). 3.00 in confirmatory testing (>3.88 is normal).

Variant 1: NM_000152.5(GAA):c.-32-13T>G

Variant 1 ClinVarID: 4027

Variant 1 CAid: CA116606

Variant 2: NM_000152.5(GAA):c.2560C>T

Variant 2 ClinVarID: 4034

Variant 2 CAid: CA340130

Zygosity: compound heterozygous

ParentalGenotype: N/A

PreviouslyPublished: N/A

Patient20: Female, Northern China

CasePresentingHPOs:

HPOsFreeText: IOPD

CaseNotHPOs:

NotHPOsFreeText:

CaseAddInfo:

CasePMIDs:

CasePreviousTesting: same as group

CaseGenotypingMethod: same as group

Variant1: NM_000152.4(GAA):c.1320_1322del (p.Met440del)

ClinVar: 526518, https://www.ncbi.nlm.nih.gov/clinvar/variation/526518/

gnomAD: n/a

Variant2: NM_000152.4(GAA):c.2560C>T (p.Arg854Ter)

ClinVar: 4034, https://www.ncbi.nlm.nih.gov/clinvar/variation/4034/

gnomAD: 0.0002146, http://exac.broadinstitute.org/variant/17-78092070-C-T

Case3: Female, Swedish, 64 years report, 48 years onset

CasePresentingHPOs: HP:0008956 (Thigh muscle atrophy)

HPOsFreeText: 6-min walk test achieved 369 m, MRC score is 4/5 (thigh/calf), Forced vital capacity sitting/supine is 2.8/2.7 (L), On the medications Zopiklon and Ketoprofen

NotHPOsFreetext: Not on ERT

GroupGenotypingMethod: Mutation Analysis on the GAA Gene

Variant1: NM_000152.4:c.2560C>T (p.Arg854Ter)

ClinVar: 4034 https://www.ncbi.nlm.nih.gov/clinvar/variation/4034/

gnomAD: African 1.891e-3, Overall 2.090e-4 http://gnomad.broadinstitute.org/variant/17-78092070-C-T

Variant2: NM_000152.4:c.-32-13T>G

ClinVar: 4027 https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/

gnomAD: Ashkenazi Jewish 5.541e-3, Overall 3.401e-3 http://gnomad.broadinstitute.org/variant/17-78078341-T-G

CaseAddInfo: Late Onset Pompe Disease

Case#: Patient 5

DiseaseAssertion: Pompe Disease

FamilyInfo: None given

CasePresentingHPOs: None

CaseHPOFreeText: None

CaseNotHPOs: None

CaseNotHPOFreeText: None

CasePreviousTesting: Single gene sequencing with Ion Torrent Persional Genome Machine

Glucosidase activity: 0.0 nmol 5MU/hr/mL

Variant 1: NM_000152.5:c.2560C>T

Variant 1 ClinVarID: 4034

Variant 1 CAid: CA340130

Variant 2: NM_000152.5:c.2446G>A

Variant 2 ClinVarID: 92477

Variant 2 CAid: CA145772

ParentalGenotype: Not provided

Case#: Patient 7

DiseaseAssertion: Pompe Disease

FamilyInfo: None given

CasePresentingHPOs: None

CaseHPOFreeText: None

CaseNotHPOs: None

CaseNotHPOFreeText: None

CasePreviousTesting: Single gene sequencing with Ion Torrent Persional Genome Machine

Glucosidase activity: 0.05 nmol 5MU/hr/mL

Variant 1: NM_000152.5:c.2560C>T

Variant 1 ClinVarID: 4034

Variant 1 CAid: CA340130

Variant 2: NM_000152.5:c.596A>G

Variant 2 ClinVarID: 92486

Variant 2 CAid: CA145785

Variant 3: NM_000152.5:c.668G>A

Variant 3 ClinVarID: 92488

Variant 3 CAid: CA145791

ParentalGenotype: Not provided