Case1049: 5 yrs onset, United States, Black

CasePresentingHPOs: HP:0006785, HP:0003236 (Limb-girdle muscular dystrophy, Elevated serum creatine kinase)

HPOsFreeText: N/A

CaseNotHPOs: N/A

NotHPOsFreeText: N/A

CaseAddInfo: Affected brother, sister, and half-brother, Genotype confirmed in proband and affected brother only

CasePreviousTesting: Serum CK levels 8,000 - 18,000 UI/l; Genetic testing also included DMD, FKRP, DM1, DM2;

CaseGenotypingMethod: DNA was collected from peripheral blood or saliva samples. WES was performed and processed though a pipeline before aligning the reads and analyzing the candidate gene list for any variants using the various inheritance patterns. Screening was performed based on in silico predictors with a liberal threshold to filter variants before PCR amplification and Sanger sequencing confirmed the pathogenic mutations.

Variant1: NM_000231.2(SGCG):c.195+4_195+7del

ClinVar: 208611 https://www.ncbi.nlm.nih.gov/clinvar/variation/208611/

gnomAD: 0.00004009, https://gnomad.broadinstitute.org/variant/13-23778027-CAGTA-C

Variant2: NM_000231.2(SGCG):c.195+1G>C

ClinVar: 283707 https://www.ncbi.nlm.nih.gov/clinvar/variation/283707/

gnomAD: 0.0002004, https://gnomad.broadinstitute.org/variant/13-23778029-G-C

Case1 female, Finland

CasePresentingHPOs HP:0000202, HP:0000347, HP:0001341, HP:0000238, HP:0002126, HP:0007165, HP:0030449

(Oral Cleft, Micrognathia, Olfactory lobe agenesis, Hydrocephalus, Polymicrogyria, Periventricular neuronal heterotopia, Therapeutic abortion)

HPOsFreeText crown-heel length: 8cm, weight: 9g, hydrocephalus/open-book, occipitotemporal hypoplasia, infratentorial hypoplasia, occipitoschisis/keyhole, neuroepithelial rosettes, absent developed and identifiable mamillary bodies, absent anterior commissure, difficult to identify nucleus dentatus

CaseNotHPOs HP:0001161, HP:0001829, HP:0001627, HP:0000157, HP:0002101, HP:0007370, HP:0010664, HP:0002444, HP:0007260

(Hand polydactyly, Foot polydactyly, Congenital heart defect, Tongue abnormality, Defective lung lobation, Callosal agenesis, Fused thalami, Hypothalamic hamartoma, Type II lissencephaly)

NotHPOsFreeText abnormal larynx/trachea, uterus duplex, hydranencephaly/anencephaly, hypothalamic bulging, leptomeningeal heterotopia, true alobar or semilobar holoprosencephaly

CasePreviousTesting n/a

Variant NM_145014.2(HYLS1):c.632A>G (p.Asp211Gly), homozygous

ClinVar 1143

gnomAD MAF= 0.009594(European(Finnish)), no homozygotes

CaseAddInfo induced abortion at 12+1wk gestational age

CasePMIDs n/a

Case# Tadic Index, F, Turkish, 39yo report

CasePresentingHPOs HP:0001260, HP:0000514, HP:0001285, HP:0001276, HP:0001776, HP:0002070, HP:0002317

CasePreviousTesting The patient scored 4/40 on the Scale for the Assessment and Rating of Ataxia (SARA). Baclofen, tizanidine and tolperisone were not tolerated or inefficacious but she responded to botulinum toxin injections with a mean improvement of 40–50%. Her cranial MRI showed very mild cerebellar vermal atrophy, whereas spinal cord imaging was unremarkable

CaseMethod1 Whole Exome

Variant NM_001198869.1:c.759+1G>A

CAID CA381244789

gnomAD 0.00006707(African), 0.000004189(Overall)

VariantEvidence splice-site variant

CaseAddInfo in trans

From supplemental tables S2 and S3 (authors used hg19 alignment).

MONDO: MONDO:0005144 for FALS

Case#5: Smith 2014 FALS R320H, F, 41 y.o. onset, Italy

CasePresentingHPOs: HP:0007354

CaseHPOFreeText: spinal-onset ALS with upper and lower motor neuron signs

CasePreviousTesting: All FALS were screened for known causative mutations/repeat expansions in SOD1, C9orf72, TARDBP, FUS, PFN1, UBQLN2, OPTN, VCP and ANG and removed from cohort if positive for variant.

CaseMethod1: This case identified through case-control study

CaseGenotypingMethod: Exome sequencing, confirmed with Sanger sequencing.

Variant: NM_006000.3(TUBA4A):c.959G>A (p.Arg320His)

ClinVar: 180183

gnomAD: 2-220115462-C-T; Total overall AF (non-neuro) = 0.000 ; TUBA4A_p.Arg320His_gnomAD

CaseAddInfo: This variant found in 0/13023 control samples.

From supplemental tables S2 and S3 (authors used hg19 alignment).

MONDO: MONDO:0005144 for FALS

Case#2: Smith 2014 FALS, T145P, M, 69 y.o. onset, Italy

CasePresentingHPOs: HP:0007354

CaseHPOFreeText: spinal-onset ALS with upper and lower motor neuron signs

CasePreviousTesting: All FALS were screened for known causative mutations/repeat expansions in SOD1, C9orf72, TARDBP, FUS, PFN1, UBQLN2, OPTN, VCP and ANG and removed from cohort if positive for variant.

CaseMethod1: This case identified through case-control study

CaseGenotypingMethod: Exome sequencing, confirmed with Sanger sequencing.

Variant: NM_006000.3(TUBA4A):c.433A>C (p.Thr145Pro)

ClinVar: 180187

CaseAddInfo: This variant found in 0/13023 control samples.

Article is a PDF, so annotating here.

Case#: Atceken Patient 10, Turkey

DiseaseAssertion: MPS1, Hurler

FamilyInfo: n/a

CasePresentingHPOs: n/a

CaseHPOFreeText:

CaseNotHPOs:

CaseNotHPOFreeText:

CasePreviousTesting: n/a

GenotypingMethod: All IDUA exons were amplified using intronic primers flanking the exonic nucleotide sequences by direct DNA sequencing of PCR products, segregation analysis

PreviouslyPublished: n/a

Variant: p.R628X homozygous

ClinVar: 550421

CAID: CA2802462

gnomAD: The highest population minor allele frequency in gnomAD v4.1.0. is 0.00005038 (2/39700 alleles) in the East Asian population, which is lower than the ClinGen Lysosomal Diseases VCEP’s threshold for PM2_Supporting (<0.00025), meeting this criterion (PM2_Supporting).

SupplementalData: n/a

Case#: Consequence 19 Table 1 in Data Supplement (2 cases)

DiseaseAssertion: HCM

FamilyInfo: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: Cardiac magnetic resonance imaging, BSA, NYHA functional class, obstructive HCM, atrial fibrillation, coronary artery disease, NSVT, Syncope, SCD family hitory, wall thickness

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: Additional oligonucleotide hybridization–based DNA sequencing and dideoxy-based DNA sequencing for MYBPC3, TMP1, TNNC1, TNNI2, TNNI3, TNNT2, ACTC1, MYL3

CaseGenotypingMethod: oligonucleotide hybridization–based DNA sequencing and dideoxy-based DNA sequencing

Variant: NM_000257.4(MYH7):c.1491G>T (p.Glu497Asp)

ClinVar: 14124 https://www.ncbi.nlm.nih.gov/clinvar/variation/14124/

CAID: n/a

gnomAD: 0.0001984 Ashkenazi Jewish https://gnomad.broadinstitute.org/variant/14-23897796-C-A

Case#: Consequence 15 Table 1 in Data Supplement (1 cases)

DiseaseAssertion: HCM

FamilyInfo: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: Cardiac magnetic resonance imaging, BSA, NYHA functional class, obstructive HCM, atrial fibrillation, coronary artery disease, NSVT, Syncope, SCD family hitory, wall thickness

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: Additional oligonucleotide hybridization–based DNA sequencing and dideoxy-based DNA sequencing for MYBPC3, TMP1, TNNC1, TNNI2, TNNI3, TNNT2, ACTC1, MYL3

CaseGenotypingMethod: oligonucleotide hybridization–based DNA sequencing and dideoxy-based DNA sequencing

Variant: NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys)

ClinVar: 14095 https://www.ncbi.nlm.nih.gov/clinvar/variation/14095/

CAID: n/a

gnomAD: 0.00003266 South Asian https://gnomad.broadinstitute.org/variant/14-23895023-G-A

Case#: Consequence 10 Table 1 in Data Supplement (2 cases)

DiseaseAssertion: HCM

FamilyInfo: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: Cardiac magnetic resonance imaging, BSA, NYHA functional class, obstructive HCM, atrial fibrillation, coronary artery disease, NSVT, Syncope, SCD family hitory, wall thickness

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: Additional oligonucleotide hybridization–based DNA sequencing and dideoxy-based DNA sequencing for MYBPC3, TMP1, TNNC1, TNNI2, TNNI3, TNNT2, ACTC1, MYL3

CaseGenotypingMethod: oligonucleotide hybridization–based DNA sequencing and dideoxy-based DNA sequencing

Variant: NM_000257.4(MYH7):c.1816G>A (p.Val606Met)

ClinVar: 14091 https://www.ncbi.nlm.nih.gov/clinvar/variation/14091/

CAID: n/a

gnomAD: 0.00001548 European (non-Finnish) https://gnomad.broadinstitute.org/variant/14-23896866-C-T

Proband KH3 was 13yo at report, has the Hurler phenotype, and has this variant in compound heterozygosity with second missense variant on exon 3, but that variant is not provided.

Patient: ID266

Variant: c.685delG

CAID: CA2580612031

Functional effect: Normal exon inclusion (band A) *, exon 4 skipping (band B), exon 4 + 5 skipping. Observed in blood.

Case#: Yamagishi Case 2, female, 10mo, Japanese

DiseaseAssertion: MPS1-Hurler

FamilyInfo: n/a

CasePresentingHPOs:

CaseHPOFreeText: mental delay, height -1.5SD

CaseNotHPOs:

CaseNotHPOFreeText: cardiac involvement

PreviouslyPublished: n/a

Variant: 704ins5 homozygous

ClinVar: 11921

CAID: CA256123

SupplementalData: n/a

CaseP585: Male, 14 yrs onset

CasePresentingHPOs: HP:0002078, HP:0001152, HP:0000639, HP:0007340, HP:0007210, HP:0002495, HP:0001639 (Truncal ataxia, Saccadic smooth pursuit, Nystagmus, Lower limb muscle weakness, Lower limb amyotrophy, Impaired vibratory sensation, Hypertrophic cardiomyopathy)

HPOsFreeText: Wheelchair-bound 22 yrs

CaseNotHPOs: HP:0000648, HP:0000365, HP:0001760, HP:0002015 (Optic atrophy, Hearing impairment, Abnormal foot morphology, Dysphagia)

NotHPOsFreeText: N/A

CaseAddInfo: N/A

CasePreviousTesting: 19.4% fratraxin protein levels

CaseGenotypingMethod: See Group

Variant1: FXN, (GAA)n REPEAT EXPANSION, IVS1

ClinVar: 561195, https://www.ncbi.nlm.nih.gov/clinvar/variation/561195/

gnomAD: Not in gnomAD

Variant2: NM_000144.5:c.354C>G (p.Tyr118Ter)

CAID: CA193385376, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA193385376

gnomAD: Not in gnomAD

Case#: KMP 18, female, 71 yrs, East Slovakia

DiseaseAssertion: HCM

FamilyInfo: n/a

CasePresentingHPOs: n/a

CaseHPOFreeText: symptomatic; LVEF 60%; NYHA I.-II.; ECG; echocardiography;

CaseNotHPOs: n/a

CaseNotHPOFreeText: no LVOTO; no ICD

CasePreviousTesting: Additional Sanger sequencing of exons 12, 24, 25 of MYBPC3, exon 12 NEBL, exons 12, 20, 21 of SCN5A, exon 7 of TNNI3, and exon 9 of TNNT2 gene

CaseGenotypingMethod: Sanger sequencing;

Variant: NM_000257.4(MYH7):c.2845G>A (p.Glu949Lys)

ClinVar: 14093 https://www.ncbi.nlm.nih.gov/clinvar/variation/14093/

CAID: n/a

gnomAD: absent

Case#: 10014, Female, Caucasian, 47 years (onset), 70 years (report)

CaseHPOs: HP:0000643, HP:0012048 (Blepharospasm, oromandibular dystonia)

CaseHPOFreeText: Segmental dystonia (blepharospasm, oromandibular, lower face)

CaseNotHPOs:

CasePreviousTesting: Prior to WES, pathogenic variants in THAP1, GNAL, and Exon 5 of TOR1A were excluded by high resolution melt analysis.

CaseMethod1: WES

CaseMethod2: Confirmation by Sanger sequencing

CaseGenotypingMethod:

Variant: NM_020821.2:c.10954C>T (p.Arg3652Ter)

ClinVar: N/A

CAID: CA7594135

gnomAD: 0.0002887 (European non-Finnish); no homozygotes

VariantEvidence: None

Case: Male, 15 yrs onset

CasePresentingHPOs: HP:0002875, HP:0001639, HP:0009073, HP:0003551, HP:0001962, HP:0004749, HP:0003758, HP:0003306, HP:0003712, HP:0003691, HP:0003184, HP:0002515, HP:0001265, HP:0003236, HP:0003458, HP:0012548, HP:0031295, HP:0006699, HP:0002375, HP:0012664, HP:0001685, HP:0032341, HP:0003557 (Exertional dyspnea, Hypertrophic cardiomyopathy, Progressive proximal muscle weakness, Difficulty climbing stairs, Palpitations, Atrial flutter, Reduced subcutaneous adipose tissue, Spinal rigidity, Skeletal muscle hypertrophy, Scapular winging, Decreased hip abduction, Waddling gait, Hyporeflexia, Elevated serum creatine kinase, EMG: myopathic abnormalities, Fatty replacement of skeletal muscle, Left atrial enlargement, Premature atrial contractions, Hypokinesia, Reduced ejection fraction, Myocardial fibrosis, Reduced forced vital capacity, Increased variability in muscle fiber diameter)

HPOsFreeText: Difficulty lifting heavy objects, Unable to get up from the floor or stand up from a chair without support

CaseNotHPOs: HP:0000822, HP:0030319, HP:0007715 (Hypertension, Weakness of facial musculature, Weak extraocular muscles)

NotHPOsFreeText: N/A

CaseAddInfo: RT-PCR analysis indicated complete absence of TRIM63 transcripts in the proband indicating NMD, with TRIM54 expression found in muscle tissue and cultured cells

CasePreviousTesting: Treated with diltiazem 200 mg daily because he did not tolerate betablockers owing to asthenia; There were single or multiple well-circumscribed non-membrane-bound subsarcolemmal deposits in the majority of type I fibres, with partial colocalization to MyHC and MuRF3; Tested for mutations in MYH7 and gene panel involved in familial HCM (genes not provided)

CaseGenotypingMethod: Sanger sequencing was performed for the proband due to similarities found in MuRF1/MuRF3 null mice, with a homozygous nonsense variant in TRIM63 and heterozygous missense variant in TRIM54 being found. To exclude any other potential disease-causing variants, WES was performed and filtered down to nine genes with only these variants encoding muscle-specific proteins.

Variant: NM_032588.3(TRIM63):c.739C>T (p.Gln247Ter)

ClinVar: 222849, https://www.ncbi.nlm.nih.gov/clinvar/variation/222849/

gnomAD: 0.008100, https://gnomad.broadinstitute.org/variant/1-26384973-G-A?dataset=gnomad_r2_1

Case#: Perrone 2017, F, 47 y.o. onset, Belgium

CasePresentingHPOs: HP:0007354, HP:0009027, HP:0001260, HP:0007289, HP:0001324, HP:0003487

CasePreviousTesting: Multiplex exome NGS panel for major FTD, ALS, AD, and PD genes: GRN, MAPT, VCP, TARDBP, FUS, SOD1, TBK1, APP, PSEN1, PSEN2, PRNP, LRRK2, PARK2, and SNCA

CaseMethod1:

CaseMethod2:

CaseGenotypingMethod: Whole-genome sequencing, exome resequencing using a multiplex NGS panel for major FTD, ALS, AD, and PD genes, and multiplex PCR amplification of the 4 TUBA4A exons (if all patients from the "Belgian Neurology consortium" are also the "patients of Project MinE").

Variant: NM_006000.3(TUBA4A):c.1142C>T p.Thr381Met

CAID: CA2122379

gnomAD: 2-220115279-G-A, Total overall AF (non-neuro) = 0.00001922; TUBA4A_Thr381Met_gnomAD

CaseAddInfo: The reported variant c.1142G>A is not a valid allele for TUBA4A. That is the genomic coordinate of the reference, not the coding sequence (TUBA4A is on the antisense strand). The CAID was found using fuzzy query at the protein level.

Case1: 58 year old female

DiseaseAssertion: HCM

FamilyInfo: proband's daughter presents with same disease and mutation

CasePresentingHPOs: HP:0008994, HP:0000218

"Proximal muscle weakness in lower limbs, High palate

CaseHPOFreeText: symmetrical bilateral ptosis without oculomotor palsy, high arched palate but the rest of the cranial examination was normal, weakness of neck flexors, weakness in psoas and tibialis anterior, unable to walk on heels

CaseNotHPOs: n/a

CaseNotHPOFreeText: atrophy of the sternocleidomastoid muscles, hanging big toe

CasePreviousTesting: n/a

GenotypingMethod: "gene sequencing"

Variant: NM_000257.4:c.746G>A

ClinVar: 14088

CAID: CA016781

gnomAD: not found

Case: Family III-II:2, female, 24 years

CaseHPOs: HP:0003563, (decreased LDL cholesterol)

CaseNotHPOs: HP:0000819 (Diabetes)

CasePreviousTesting: TC 143 mg/dl, LDL-C 28 mg/dl, HDL-C 110 mg/dl, TG 26 mg/dl (see additional values in Table 1). ApoB100 40 mg/dl (normal range 49-88) (Supplemental data). Normal ranges- total cholesterol (TC) 92-234 mg/dl, LDL-cholesterol (LDL-C) 136-174 mg/dl, HDL-cholesterol (HDL-C) 60-95 mg/dl), triglyceride (TG) 35-132 mg/dl.

Variant: NM_000384.2:c.8799C>A (p.Cys2933*), heterozygous

CAID: CA345993342

gnomAD: Absent

Variant evidence: APOB-p.Cys2933* leads to the formation of expected truncated ApoB form (ApoB-64) of 330 kDa (Fig. 1C, right panel) that can be secreted by the liver and lipidated.

Case: CP, 37 years, female

CasePresentingHPOs: HP:0003563 (reduced LDL-cholesterol level)

CasePresentingHPOsFreeText:* Plasma cholesterol and triglyceride levels for CP were below the 5th percentile; total cholesterol 2.61 (normal range 4-6.5 mmol/l), triglyceride 0.36 (normal range 0.3-1.8 mmol/l), apoB 9 (normal range 60-140 mg/dl, on Vitamin E supplement.

PresentingNotHPOs: HP:0001927 (acanthocytosis)

CaseGenotypingMethod: Genomic DNA was digested with a panel of restriction enzymes and Southern blotted. CP was heterozygous for a loss of a TaqI restriction site change which was localized to exon 25 by the hybridization pattern on Southern blot. ChP, her son, was also heterozygous. Genomic DNA in that region was amplified by the polymerase chain reaction (PCR), cloned, and sequenced.

Variant: NM_000384.3(APOB):c.3997C>T (p.Arg1333Ter), heterozygous

ClinVar: 17883

gnomAD: Not in gnomAD

CaseAddInfo: Patient is the mother of ChP who is under investigation for fat malabsorption. ChP is heterozygous for the variant c.3997C>T (p.Arg1333Ter). No abnormal i.e. truncated apoB was detected on Western blot of protein from VLDL/chylomicron, LDL, HDL or infranate fractions for CP.

Family#PresentingHPOs HP:0001263, HP:0002342, HP:0002465, HP:0000729, HP:0001290, HP:0002370, HP:0000574, HP:0000426, HP:0000426, HP:0000637, HP:0000675, HP:0000664, HP:0000545, HP:0001763

FamilyNotHPOs

CountryOrigin Pakistan

Ethnicity

Race

Family#PreviousTesting None

Family#Method1

Family#Method2

Family#GenotypingMethod three affected individuals (V-1, V-3, V-5) and four unaffected individuals (IV-7, IV-8, V-4 and V-6) were genotyped using the Illumina HumanOmniExpress BeadChip.

KaryoStudio program from Illumina Inc. was used to exclude cytogenetic abnormalities, and HBD mapping was performed by using the HomozygosityMapper.

whole exome capturing and sequencing in two affected individuals (V-1 and V-5) identified 1bp deletion at c.6879delT. confirmed by Sanger in affecteds and unaffecteds.

Exclusion of LOF variants in other genes per SFARI gene list.

Potential candidate variants were further validated in additional family members, and Pakistani population controls through Sanger sequencing

Affected 3

Unaffected 2

Segregations 2

PublishedLOD No

eLOD 1.45

AddSegregationInfo Unaffected parents and two unaffected siblings genotyped along with the 3 affected individuals.

ProbandLabel ATM02_V-3

Variant NM_017890.4:c.6879delT

ClinVar

CAID CA4824093

gnomAD 0.00003250 (South Asian)

FamilyAddInfo 3 affected brothers clinically evaluated. 1 underwent biochemical testing.

Case#: 24

DiseaseAssertion: Hemophilia A

FamilyInfo: NA

ParentalTesting: NA

CasePresentingHPOs: NA

CaseHPOFreeText: FVIII:C 23/18%, Mild Phenotype, No inhibitors present

CasePreviousTesting: Screened for IVS-22 and IVS-1, sample was blinded for NGS and the sequencing component was validated by comparing results with Sanger Sequencing

Gene: F8

Variant: NM_000132.3(F8):c.5954G>A (p.Arg1985Gln)

ClinVar: 618098 https://www.ncbi.nlm.nih.gov/clinvar/variation/618098/

CAID: CA414905715

gnomAD: MAF for Arg1985Gln in the European (non-Finnish) population 0.00001224<br> https://gnomad.broadinstitute.org/variant/X-154132225-C-T?dataset=gnomad_r2_1

Case#: 11

DiseaseAssertion: Hemophilia A

FamilyInfo: NA

ParentalTesting: NA

CasePresentingHPOs: NA

CaseHPOFreeText: FVIII:C <1% (Severe Phenotype), No inhibitors present

CasePreviousTesting: Screened for IVS-22 and IVS-1, Possibility that sample was blinded for NGS and validated by comparing results with Sanger Sequencing

Gene: F8

Variant: NM_000132.3(F8):c.1336C>T (p.Arg446Ter)

ClinVar: 10145 https://www.ncbi.nlm.nih.gov/clinvar/variation/10145/

CAID: CA255038

gnomAD: Not reported

Case#: 23

DiseaseAssertion: Hemophilia A

FamilyInfo: NA

ParentalTesting: NA

CasePresentingHPOs: NA

CaseHPOFreeText: FVIII:C <1% (Severe Phenotype), No inhibitors present

CasePreviousTesting: Screened for IVS-22 and IVS-1, Possibility that sample was blinded for NGS and validated by comparing results with Sanger Sequencing

Gene: F8

Variant: NM_000132.3(F8):c.5953C>T (p.Arg1985Ter)

ClinVar: 10300 https://www.ncbi.nlm.nih.gov/clinvar/variation/10300/

CAID: CA255191

gnomAD: Not reported

Case#: 37

DiseaseAssertion: Hemophilia A

FamilyInfo: NA

ParentalTesting: NA

CasePresentingHPOs: NA

CaseHPOFreeText: FVIII:C 36%, Mild Phenotype, No inhibitors present

CasePreviousTesting: Screened for IVS-22 and IVS-1, sample was blinded for NGS and the sequencing component was validated by comparing results with Sanger Sequencing

Gene: F8

Variant: NM_000132.3(F8):c.6977G>A (p.Arg2326Gln)

ClinVar: 10126 https://www.ncbi.nlm.nih.gov/clinvar/variation/10126/

CAID: CA255027

gnomAD: Not reported

Case#: 1

DiseaseAssertion: Hemophilia A

FamilyInfo: NA

ParentalTesting: NA

CasePresentingHPOs: NA

CaseHPOFreeText: FVIII:C 21% (Mild Phenotype), No inhibitors present

CasePreviousTesting: Screened for IVS-22 and IVS-1, sample was blinded for NGS and the sequencing component was validated by comparing results with Sanger Sequencing

Gene: F8

Variant: NM_000132.3:c.197A>T (p.Lys66Ile)

ClinVar: NA

CAID: CA414920295

gnomAD: Not reported

Case#: 21

DiseaseAssertion: Hemophilia A

FamilyInfo: NA

ParentalTesting: NA

CasePresentingHPOs: NA

CaseHPOFreeText: FVIII:C <=1% (Severe Phenotype), No inhibitors present

CasePreviousTesting: Screened for IVS-22 and IVS-1, Possibility that sample was blinded for NGS and validated by comparing results with Sanger Sequencing

Gene: F8

Variant: NM_000132.3:c.5213del

ClinVar: NA

CAID: CA1139532038

gnomAD: Not reported

Case#: 47

DiseaseAssertion: Hemophilia B

FamilyInfo: NA

ParentalTesting: NA

CasePresentingHPOs: NA

CaseHPOFreeText: FIX:C 18/26% (Mild Phenotype)

CasePreviousTesting: Screened for IVS-22 and IVS-1, sample was blinded for NGS and the sequencing component was validated by comparing results with Sanger Sequencing

Gene: F9

Variant: NM_000133.3(F9):c.835G>A (p.Ala279Thr)

ClinVar: 216926 https://www.ncbi.nlm.nih.gov/clinvar/variation/216926/

CAID: CA277507

gnomAD: Not reported

Case#: 4

DiseaseAssertion: Hemophilia A

FamilyInfo: NA

ParentalTesting: NA

CasePresentingHPOs: NA

CaseHPOFreeText: FVIII:C 3/5/3% (Moderate Phenotype), No inhibitors present

CasePreviousTesting: Screened for IVS-22 and IVS-1, sample was blinded for NGS and the sequencing component was validated by comparing results with Sanger Sequencing

Gene: F8

Variant: NM_000132.3(F8):c.541G>A (p.Val181Met)

ClinVar: 10177 https://www.ncbi.nlm.nih.gov/clinvar/variation/10177/

CAID: CA255066

gnomAD: Not reported

Case#: 22, Female HA carrier

DiseaseAssertion: Hemophilia A

FamilyInfo: NA

ParentalTesting: NA

CasePresentingHPOs: NA

CaseHPOFreeText: FVIII:C 60%, Mild Phenotype, No inhibitors present

CasePreviousTesting: Screened for IVS-22 and IVS-1, sample was blinded for NGS and the sequencing component was validated by comparing results with Sanger Sequencing

Gene: F8

Variant: NM_000132.3(F8):c.5374-19del

ClinVar: 439679 https://www.ncbi.nlm.nih.gov/clinvar/variation/439679/

CAID: CA10567985

gnomAD: MAF in the South Asian population 0.3867<br>https://gnomad.broadinstitute.org/variant/X-154133316-CA-C

Case#: 19

DiseaseAssertion: Hemophilia A

FamilyInfo: NA

ParentalTesting: NA

CasePresentingHPOs: NA

CaseHPOFreeText: FVIII:C <1% (Severe Phenotype), No inhibitors present

CasePreviousTesting: Screened for IVS-22 and IVS-1, Possibility that sample was blinded for NGS and validated by comparing results with Sanger Sequencing

Gene: F8

Variant: NM_000132.3:c.4692del (p.Leu1566Ter)

ClinVar: NA

CAID: CA1139532037

gnomAD: NA

Case#: 83, male, 17 years old, Chinese

DiseaseAssertion: Hemophilia A, severe

FamilyInfo: NA

ParentalTesting: Maternity confirmed

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C < 1%, Inhibitor present

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

Gene: F8

Variant: NM_000132.3:c.5816C>A

LegacyVariant:

ClinVar: No

CAID: CA414906727

gnomAD:

Case#: 68, male, 10 years old, Chinese

DiseaseAssertion: Hemophilia A, severe

FamilyInfo: NA

ParentalTesting: NA

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C < 1%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

Gene: F8

Variant: NM_000132.3:c.3780C>G

LegacyVariant:

ClinVar: 40999

CAID: CA343865

gnomAD:

Case#: 96, male, 55 years old, Chinese

DiseaseAssertion: Hemophilia A, moderate

FamilyInfo: Noted Family History

ParentalTesting: Maternity confirmed

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C = 1.2%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

Gene: F8

Variant: NM_000132.3:c.6515C>T

LegacyVariant:

ClinVar: No

CAID: CA414907354

gnomAD:

Case#: 145, male, 35 years old, Chinese

DiseaseAssertion: Hemophilia A, severe

FamilyInfo: Noted Family History

ParentalTesting: Maternity confirmed

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C < 1%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

Gene: F8

Variant: NM_000132.3:c.205_206delCT

LegacyVariant:

ClinVar: No

CAID: CA873358609

gnomAD:

Case#: 150, male, 32 years old, Chinese

DiseaseAssertion: Hemophilia A, severe

FamilyInfo: Noted Family History

ParentalTesting: Maternity confirmed

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C < 1%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

Gene: F8

Variant: NM_000132.3:c.1786delT

LegacyVariant:

ClinVar: No

CAID: No

gnomAD:

Case#: 19, male, 48 years old, Chinese

DiseaseAssertion: Hemophilia A, moderate

FamilyInfo: NA

ParentalTesting: NA

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C < 1%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

Gene: F8

Variant: NM_000132.3:c.4342C>T

LegacyVariant:

ClinVar: No

CAID: CA414918542

gnomAD:

Case#: 178, male, 29 years old, Chinese

DiseaseAssertion: Hemophilia A, severe

FamilyInfo: NA

ParentalTesting: NA

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C < 1%, Inhibitor present

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

Gene: F8

Variant: NM_000132.3:c.del exons8_9

LegacyVariant:

ClinVar: No

CAID: No

gnomAD:

Case#: 156, male, 23 years old, Chinese

DiseaseAssertion: Hemophilia A, severe

FamilyInfo: NA

ParentalTesting: Maternity confirmed

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C < 1%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

Gene: F8

Variant: NM_000132.3:c.3637delA

LegacyVariant:

ClinVar: No

CAID: CA255146

gnomAD:

Case#: 121, male, 16 years old, Chinese

DiseaseAssertion: Hemophilia A, moderate

FamilyInfo: NA

ParentalTesting: NA

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C = 2%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

Gene: F8

Variant: NM_000132.3:c.5586+2T>A

LegacyVariant:

ClinVar: No

CAID: CA414908347

gnomAD:

Case#: 131, male, 23 years old, Chinese

DiseaseAssertion: Hemophilia A, moderate

FamilyInfo: NA

ParentalTesting: na

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C = 1.5%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

Gene: F8

Variant: NM_000132.3:c.4379dupA

LegacyVariant:

ClinVar: No

CAID: CA645292749

gnomAD:

Case#: 126, male, 33 years old, Chinese

DiseaseAssertion: Hemophilia A, mild

FamilyInfo: Noted Family History

ParentalTesting: Maternity confirmed

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C = 7.9%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

Gene: F8

Variant: NM_000132.3:c.2133_2134insT

LegacyVariant:

ClinVar: No

CAID: No

gnomAD:

Case#: 48, male, 37 years old, Chinese

DiseaseAssertion: Hemophilia A, moderate

FamilyInfo: NA

ParentalTesting: NA

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C = 1.2%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

Gene: F8

Variant: NM_000132.3:c.1331A>C

LegacyVariant:

ClinVar: No

CAID: CA414914983

gnomAD:

Case#: 38, male, 10 years old, Chinese

DiseaseAssertion: Hemophilia A, mild

FamilyInfo: NA

ParentalTesting: Maternity confirmed

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C = 13%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

Gene: F8

Variant: NM_000132.3:c.530A>G

LegacyVariant:

ClinVar: No

CAID: CA414919515

gnomAD:

Case#: 59, male, 13 years old, Chinese

DiseaseAssertion: Hemophilia A, moderate

FamilyInfo: NA

ParentalTesting: NA

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C = 1.1%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

Gene: F8

Variant: NM_000132.3:c.1913G>A

LegacyVariant:

ClinVar: No

CAID: CA414909831

gnomAD:

Case#: 57, male, 9 years old, Chinese

DiseaseAssertion: Hemophilia A, moderate

FamilyInfo: Noted Family History

ParentalTesting: Maternity confirmed

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C = 2%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

Gene: F8

Variant: NM_000132.3:c.1909A>G

LegacyVariant:

ClinVar: No

CAID: CA414909856

gnomAD:

Case#: 119, male, 10 years old, Chinese

DiseaseAssertion: Hemophilia A, moderate

FamilyInfo: NA

ParentalTesting: Maternity confirmed

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C = 3.3%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

Gene: F8

Variant: NM_000132.3:c.5219+3A>G

LegacyVariant:

ClinVar: No

CAID: CA873340051

gnomAD:

Case#: 35, male, 19 years old, Chinese

DiseaseAssertion: Hemophilia A, severe

FamilyInfo: Noted Family History

ParentalTesting: Maternity confirmed

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C < 1%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

Gene: F8

Variant: NM_000132.3:c.385G>C

LegacyVariant:

ClinVar: No

CAID: CA414919872

gnomAD:

Case#: 155, male, 27 years old, Chinese

DiseaseAssertion: Hemophilia A, moderate

FamilyInfo: Noted Family History

ParentalTesting: Maternity confirmed

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C = 1.4%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

Gene: F8

Variant: NM_000132.3:c.3637delA

LegacyVariant:

ClinVar: No

CAID: CA255146

gnomAD:

Case#: 28, male, 55 years old, Chinese

DiseaseAssertion: Hemophilia A, severe

FamilyInfo: Noted Family History

ParentalTesting: Maternity confirmed

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C < 1%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

Gene: F8

Variant: NM_000132.3:c.301G>C

LegacyVariant:

ClinVar: No

CAID: CA414920057

gnomAD:

Case#: 51, male, 8 years old, Chinese

DiseaseAssertion: Hemophilia A, mild

FamilyInfo: NA

ParentalTesting: Maternity confirmed

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C = 22%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

Gene: F8

Variant: NM_000132.3:c.1758G>A

LegacyVariant:

ClinVar: No

CAID: CA414911269

gnomAD:

Case#: 67, male, 30 years old, Chinese

DiseaseAssertion: Hemophilia A, mild

FamilyInfo: Noted Family History

ParentalTesting: Maternity confirmed

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C = 8.5%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

Gene: F8

Variant: NM_000132.3:c.2167G>A

LegacyVariant:

ClinVar: 10246

CAID: CA255138

gnomAD:

Case#: 169, male, 25 years old, Chinese

DiseaseAssertion: Hemophilia A, severe

FamilyInfo: NA

ParentalTesting: Maternity confirmed

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C < 1%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

Gene: F8

Variant: NM_000132.3:c.6254delA

LegacyVariant:

ClinVar: No

CAID: No

gnomAD:

Case#: 78, male, 44 years old, Chinese

DiseaseAssertion: Hemophilia A, mild

FamilyInfo: Noted Family History

ParentalTesting: Maternity confirmed

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C = 21%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

Gene: F8

Variant: NM_000132.3:c.5558C>T

LegacyVariant:

ClinVar: 10284

CAID: CA255174

gnomAD:

Case#: 149, male, 37 years old, Chinese

DiseaseAssertion: Hemophilia A, moderate

FamilyInfo: NA

ParentalTesting: Maternity confirmed

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C = 2.1%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

Gene: F8

Variant: NM_000132.3:c.1780delC

LegacyVariant:

ClinVar: No

CAID: No

gnomAD:

Case#: 116, male, 29 years old, Chinese

DiseaseAssertion: Hemophilia A, severe

FamilyInfo: Noted Family History

ParentalTesting: Maternity confirmed

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C < 1%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

Gene: F8

Variant: NM_000132.3:c.1443+2T>G

LegacyVariant:

ClinVar: No

CAID: CA414914230

gnomAD:

Case#: 173, male, 21 years old, Chinese

DiseaseAssertion: Hemophilia A, severe

FamilyInfo: Noted Family History

ParentalTesting: Maternity confirmed

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C < 1%, Inhibitor present

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

Gene: F8

Variant: NM_000132.3:c.del exons1_26

LegacyVariant:

ClinVar: No

CAID: No

gnomAD:

Case#: 86, male, 63 years old, Chinese

DiseaseAssertion: Hemophilia A, mild

FamilyInfo: NA

ParentalTesting: NA

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C = 26%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

Gene: F8

Variant: NM_000132.3:c.6380A>G

LegacyVariant:

ClinVar: No

CAID: CA414899587

gnomAD:

Case#: 135, male, 54 years old, Chinese

DiseaseAssertion: Hemophilia A, severe

FamilyInfo: Noted Family History

ParentalTesting: Maternity confirmed

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C < 1%, Inhibitor present

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

Gene: F8

Variant: NM_000132.3:c.5961dupA

LegacyVariant:

ClinVar: No

CAID: CA645251974

gnomAD:

Case#: 82, male, 38 years old, Chinese

DiseaseAssertion: Hemophilia A, moderate

FamilyInfo: Noted Family History

ParentalTesting: Maternity confirmed

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C = 1%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

Gene: F8

Variant: NM_000132.3:c.5720G>A

LegacyVariant:

ClinVar: No

CAID: CA414907651

gnomAD:

Case#: 55, male, 36 years old, Chinese

DiseaseAssertion: Hemophilia A, mild

FamilyInfo: NA

ParentalTesting: Maternity confirmed

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C = 17%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

Gene: F8

Variant: NM_000132.3:c.1834C>T

LegacyVariant:

ClinVar: 10236

CAID: CA255129

gnomAD:

Case#: 18, male, 15 years old, Chinese

DiseaseAssertion: Hemophilia A, mild

FamilyInfo: NA

ParentalTesting: NA

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C = 20%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

Gene: F8

Variant: NM_000132.3:c.3325C>T

LegacyVariant:

ClinVar: No

CAID: CA414897253

gnomAD:

Case#: 144, male, 14 years old, Chinese

DiseaseAssertion: Hemophilia A, moderate

FamilyInfo: Noted Family History

ParentalTesting: Maternity confirmed

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C = 1.1%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

Gene: F8

Variant: NM_000132.3:c.4320_4325delTAGAAA

LegacyVariant:

ClinVar: No

CAID: No

gnomAD:

Case#: 160, male, 16 years old, Chinese

DiseaseAssertion: Hemophilia A, severe

FamilyInfo: Noted Family History

ParentalTesting: Maternity confirmed

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C < 1%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

Gene: F8

Variant: NM_000132.3:c.3637delA

LegacyVariant:

ClinVar: No

CAID: CA255146

gnomAD:

Case#: 185, male, 29 years old, Chinese

DiseaseAssertion: Hemophilia A, severe

FamilyInfo: Noted Family History

ParentalTesting: Maternity confirmed

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C < 1%, Inhibitor present

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

Gene: F8

Variant: NM_000132.3:c.del exon26

LegacyVariant:

ClinVar: No

CAID: No

gnomAD:

Case#: 110, male, 9 years old, Chinese

DiseaseAssertion: Hemophilia A, severe

FamilyInfo: NA

ParentalTesting: Maternity confirmed

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C < 1%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

Gene: F8

Variant: NM_000132.3:c.7021G>C

LegacyVariant:

ClinVar: No

CAID: CA414896760

gnomAD:

Case#: 130, male, 16 years old, Chinese

DiseaseAssertion: Hemophilia A, mild

FamilyInfo: Noted Family History

ParentalTesting: Maternity confirmed

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C = 17.5%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

Gene: F8

Variant: NM_000132.3:c.3802dupC

LegacyVariant:

ClinVar: No

CAID: No

gnomAD:

Case#: 50, male, 50 years old, Chinese

DiseaseAssertion: Hemophilia A, mild

FamilyInfo: Noted Family History

ParentalTesting: Maternity confirmed

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C = 16.3%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

Gene: F8

Variant: NM_000132.3:c.1745G>A

LegacyVariant:

ClinVar: No

CAID: CA414911614

gnomAD:

Case#: 95, male, 76 years old, Chinese

DiseaseAssertion: Hemophilia A, mild

FamilyInfo: NA

ParentalTesting: NA

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C = 17%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

Gene: F8

Variant: NM_000132.3:c.6506G>A

LegacyVariant:

ClinVar: 10315

CAID: CA255208

gnomAD:

Case#: 33, male, 25 years old, Chinese

DiseaseAssertion: Hemophilia A, moderate

FamilyInfo: NA

ParentalTesting: Maternity confirmed

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C = 3.8%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

Gene: F8

Variant: NM_000132.3:c.382T>C

LegacyVariant:

ClinVar: 811825

CAID: CA414919878

gnomAD:

Case#: 103, male, 10 years old, Chinese

DiseaseAssertion: Hemophilia A, severe

FamilyInfo: NA

ParentalTesting: NA

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C < 1%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

Gene: F8

Variant: NM_000132.3:c.6635C>T

LegacyVariant:

ClinVar: No

CAID: CA414905841

gnomAD:

Case#: 113, male, 27 years old, Chinese

DiseaseAssertion: Hemophilia A, severe

FamilyInfo: Noted Family History

ParentalTesting: Maternity confirmed

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C < 1%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

Gene: F8

Variant: NM_000132.3:c.388+5G>A

LegacyVariant:

ClinVar: No

CAID: CA873357439

gnomAD:

Case#: 22, male, 30 years old, Chinese

DiseaseAssertion: Hemophilia A, moderate

FamilyInfo: NA

ParentalTesting: NA

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C = 3.1%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

Gene: F8

Variant: NM_000132.3:c.6496C>T

LegacyVariant:

ClinVar: 10096

CAID: CA255013

gnomAD:

Case#: 72, male, 31 years old, Chinese

DiseaseAssertion: Hemophilia A, moderate

FamilyInfo: Noted Family History

ParentalTesting: Maternity confirmed

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C = 4.6%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

Gene: F8

Variant: NM_000132.3:c.5399G>A

LegacyVariant:

ClinVar: 10274

CAID: CA255162

gnomAD:

Case#: 44, male, 9 years old, Chinese

DiseaseAssertion: Hemophilia A, moderate

FamilyInfo: Noted Family History

ParentalTesting: Maternity confirmed

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C = 1.7%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA

Gene: F8

Variant: NM_000132.3:c.1171C>T

LegacyVariant:

ClinVar: 10125

CAID: CA255026

gnomAD:

Case#: 038-2012

DiseaseAssertion: Hemophilia A, mild

FamilyInfo: NA

ParentalTesting: NA

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: 5% < FVIII:C < 40%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification

Gene: F8

Variant: NM_000132.3:c.1834C>T

LegacyVariant:

ClinVar: No

CAID: CA255129

gnomAD:

Case#: 047-1013

DiseaseAssertion: Hemophilia A, mild

FamilyInfo: NA

ParentalTesting: NA

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: 5% < FVIII:C < 40%, Inhibitor present

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification

Gene: F8

Variant: NM_000132.3:c.1492G>C

LegacyVariant:

ClinVar: No

CAID: CA414912741

gnomAD:

Case#: 048-1001

DiseaseAssertion: Hemophilia A, severe

FamilyInfo: NA

ParentalTesting: NA

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C < 1%, Inhibitor present

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification

Gene: F8

Variant:

LegacyVariant:

ClinVar: No

CAID: No

gnomAD:

Case#: 047-1008

DiseaseAssertion: Hemophilia A, severe

FamilyInfo: NA

ParentalTesting: NA

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C < 1%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification

Gene: F8

Variant: NM_000132.3:c.1336C>T

LegacyVariant:

ClinVar: No

CAID: CA255038

gnomAD:

Case#: 002-2010

DiseaseAssertion: Hemophilia A, severe

FamilyInfo: NA

ParentalTesting: NA

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C < 1%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification

Gene: F8

Variant: NM_000132.3:c.901C>T

LegacyVariant:

ClinVar: No

CAID: CA414917990

gnomAD:

Case#: 035-2005

DiseaseAssertion: Hemophilia A, moderate

FamilyInfo: NA

ParentalTesting: NA

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: 1% < FVIII:C < 5%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification

Gene: F8

Variant: NM_000132.3:c.1175C>T

LegacyVariant:

ClinVar: No

CAID: CA255095

gnomAD:

Case#: 068-2003

DiseaseAssertion: Hemophilia A, mild

FamilyInfo: NA

ParentalTesting: NA

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: 5% < FVIII:C < 40%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification

Gene: F8

Variant: NM_000132.3:c.5275G>A

LegacyVariant:

ClinVar: No

CAID: CA414911087

gnomAD:

Case#: 004-2013

DiseaseAssertion: Hemophilia A, severe

FamilyInfo: NA

ParentalTesting: NA

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C < 1%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification

Gene: F8

Variant: NM_000132.3:c.6046C>T

LegacyVariant:

ClinVar: No

CAID: CA255197

gnomAD:

Case#: 022-2007

DiseaseAssertion: Hemophilia A, moderate

FamilyInfo: NA

ParentalTesting: NA

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: 1% < FVIII:C < 5%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification

Gene: F8

Variant: NM_000132.3:c.73_75delTAC

LegacyVariant:

ClinVar: No

CAID: No

gnomAD:

Case#: 015-2008

DiseaseAssertion: Hemophilia A, severe

FamilyInfo: NA

ParentalTesting: NA

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C < 1%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification

Gene: F8

Variant: NM_000132.3:c.dupexons7_22

LegacyVariant:

ClinVar: No

CAID: No

gnomAD:

Case#: 001-2052

DiseaseAssertion: Hemophilia A, mild

FamilyInfo: NA

ParentalTesting: NA

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: 5% < FVIII:C < 40%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification

Gene: F8

Variant: NM_000132.3:c.1988C>T

LegacyVariant:

ClinVar: No

CAID: CA255135

gnomAD:

Case#: 050-1001

DiseaseAssertion: Hemophilia A, moderate

FamilyInfo: NA

ParentalTesting: NA

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C < 1%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification

Gene: F8

Variant: NM_000132.3:c.6046C>T

LegacyVariant:

ClinVar: No

CAID: CA255197

gnomAD:

Case#: 003-1002

DiseaseAssertion: Hemophilia A, severe

FamilyInfo: NA

ParentalTesting: NA

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C < 1%, Inhibitor present

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification

Gene: F8

Variant: NM_000132.3:c.493C>T

LegacyVariant:

ClinVar: No

CAID: CA255065

gnomAD:

Case#: 001-2022

DiseaseAssertion: Hemophilia A, severe

FamilyInfo: NA

ParentalTesting: NA

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C < 1%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification

Gene: F8

Variant: NM_000132.3:c.947_949insA

LegacyVariant:

ClinVar: No

CAID: No

gnomAD:

Case#: 060-2008

DiseaseAssertion: Hemophilia A, severe

FamilyInfo: NA

ParentalTesting: NA

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C < 1%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification

Gene: F8

Variant: NM_000132.3:c.1618C>A

LegacyVariant:

ClinVar: No

CAID: CA414911950

gnomAD:

Case#: 047-1007

DiseaseAssertion: Hemophilia A, severe

FamilyInfo: NA

ParentalTesting: NA

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C < 1%, Inhibitor present

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification

Gene: F8

Variant: NM_000132.3:c.1093T>G

LegacyVariant:

ClinVar: No

CAID: CA414916885

gnomAD:

Case#: 020-2015

DiseaseAssertion: Hemophilia A, mild

FamilyInfo: NA

ParentalTesting: NA

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: 5% < FVIII:C < 40%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification

Gene: F8

Variant: NM_000132.3:c.5612T>G

LegacyVariant:

ClinVar: No

CAID: CA414908197

gnomAD:

Case#: 028-1001

DiseaseAssertion: Hemophilia A, severe

FamilyInfo: NA

ParentalTesting: NA

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C < 1%, Inhibitor present

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification

Gene: F8

Variant:

LegacyVariant:

ClinVar: No

CAID: No

gnomAD:

Case#: 004-2025

DiseaseAssertion: Hemophilia A, mild

FamilyInfo: NA

ParentalTesting: NA

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: 5% < FVIII:C < 40%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification

Gene: F8

Variant: NM_000132.3:c.328A>G

LegacyVariant:

ClinVar: No

CAID: CA255057

gnomAD:

Case#: 001-2049

DiseaseAssertion: Hemophilia A, severe

FamilyInfo: NA

ParentalTesting: NA

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C < 1%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification

Gene: F8

Variant: NM_000132.3:c.901C>T

LegacyVariant:

ClinVar: No

CAID: CA414917990

gnomAD:

Case#: 004-2007

DiseaseAssertion: Hemophilia A, severe

FamilyInfo: NA

ParentalTesting: NA

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C < 1%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification

Gene: F8

Variant: NM_000132.3:c.3637delA

LegacyVariant:

ClinVar: No

CAID: CA255146

gnomAD:

Case#: 045-2002

DiseaseAssertion: Hemophilia A, moderate

FamilyInfo: NA

ParentalTesting: NA

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: 1% < FVIII:C < 5%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification

Gene: F8

Variant: NM_000132.3:c.3637delA

LegacyVariant:

ClinVar: No

CAID: CA255146

gnomAD:

Case#: 003-2012

DiseaseAssertion: Hemophilia A, mild

FamilyInfo: NA

ParentalTesting: NA

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: 5% < FVIII:C < 40%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification

Gene: F8

Variant: NM_000132.3:c.992T>C

LegacyVariant:

ClinVar: No

CAID: CA414917621

gnomAD:

Case#: 003-2017

DiseaseAssertion: Hemophilia A, severe

FamilyInfo: NA

ParentalTesting: NA

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C < 1%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification

Gene: F8

Variant: NM_000132.3:c.4379dupA

LegacyVariant:

ClinVar: No

CAID: CA645292749

gnomAD:

Case#: 020-2052

DiseaseAssertion: Hemophilia A, mild

FamilyInfo: NA

ParentalTesting: NA

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: 5% < FVIII:C < 40%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification

Gene: F8

Variant: NM_000132.3:c.923C>T

LegacyVariant:

ClinVar: No

CAID: CA255082

gnomAD:

Case#: 003-2007

DiseaseAssertion: Hemophilia A, moderate

FamilyInfo: NA

ParentalTesting: NA

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: 1% < FVIII:C < 5%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification

Gene: F8

Variant: NM_000132.3:c.1475A>G

LegacyVariant:

ClinVar: No

CAID: CA337334224

gnomAD:

Case#: 047-1001

DiseaseAssertion: Hemophilia A, severe

FamilyInfo: NA

ParentalTesting: NA

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C < 1%, Inhibitor present

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification

Gene: F8

Variant:

LegacyVariant:

ClinVar: No

CAID: No

gnomAD:

Case#: 087-2003

DiseaseAssertion: Hemophilia A, severe

FamilyInfo: NA

ParentalTesting: NA

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C < 1%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification

Gene: F8

Variant: NM_000132.3:c.5122C>T

LegacyVariant:

ClinVar: No

CAID: CA120919

gnomAD:

Case#: 038-2016

DiseaseAssertion: Hemophilia A, severe

FamilyInfo: NA

ParentalTesting: NA

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C < 1%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification

Gene: F8

Variant: NM_000132.3:c.3531_3533delA

LegacyVariant:

ClinVar: No

CAID: No

gnomAD:

Case#: 020-2045

DiseaseAssertion: Hemophilia A, mild

FamilyInfo: NA

ParentalTesting: NA

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: 5% < FVIII:C < 40%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification

Gene: F8

Variant: NM_000132.3:c.458A>T

LegacyVariant:

ClinVar: No

CAID: CA414919676

gnomAD:

Case#: 038-1003

DiseaseAssertion: Hemophilia A, severe

FamilyInfo: NA

ParentalTesting: NA

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C < 1%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification

Gene: F8

Variant: NM_000132.3:c.331G>A

LegacyVariant:

ClinVar: No

CAID: CA414919991

gnomAD:

Case#: 035-1003

DiseaseAssertion: Hemophilia A, severe

FamilyInfo: NA

ParentalTesting: NA

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C < 1%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification

Gene: F8

Variant:

LegacyVariant:

ClinVar: No

CAID: No

gnomAD:

Case#: 084-2006

DiseaseAssertion: Hemophilia A, mild

FamilyInfo: NA

ParentalTesting: NA

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: 5% < FVIII:C < 40%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification

Gene: F8

Variant: NM_000132.3:c.1910A>G

LegacyVariant:

ClinVar: No

CAID: CA414909849

gnomAD:

Case#: 001-2045

DiseaseAssertion: Hemophilia A, severe

FamilyInfo: NA

ParentalTesting: NA

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C < 1%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification

Gene: F8

Variant: NM_000132.3:c.1462G>A

LegacyVariant:

ClinVar: No

CAID: CA414912862

gnomAD:

Case#: 071-2032

DiseaseAssertion: Hemophilia A, severe

FamilyInfo: NA

ParentalTesting: NA

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C < 1%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification

Gene: F8

Variant: NM_000132.3:c.308_319delGTGGTCATTACA

LegacyVariant:

ClinVar: No

CAID: No

gnomAD:

Case#: 001-2028

DiseaseAssertion: Hemophilia A, severe

FamilyInfo: NA

ParentalTesting: NA

CasePresentingHPOs: HP:0003125

CaseHPOFreeText: FVIII:C < 1%

CaseNotHPOs: NA

CaseNotHPOFreeText: NA

CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification

Gene: F8

Variant: NM_000132.3:c.4379dupA

LegacyVariant:

ClinVar: No

CAID: CA645292749

gnomAD: