PMID: 37628710

Gene: ABCA4

HGNC ID: 34

Case#: 1 female, 12 years old.

DiseaseAssertion: bilateral stage 2B Coats disease. ABCA4 gene mutations were found upon genetic analysis but Stargardt disease was not diagnosed.

FamilyInfo: Single affected individual. Past medical history and family history was reported as normal. No additional information about family is provided in text.

CasePresentingHPOs: HP:0007663 - Reduced visual acuity, HP:0001147 - Retinal exudate, HP:0007763 - Retinal telangiectasia, HP:0025355 - Retinal arteriolar macroaneurysms, HP:0011505- Cystoid macular edema, HP:0020032 - Hyperreflective retinal dots on OCT, HP:0001045 - Vitiligo

CaseHPOFreeText: bilateral significant capillary nonperfusion noted mostly in the temporal retinal periphery together with light-bulb-like capillary dilations and staining of telangiectatic vessels. Mild intravitreal hemorrhage

CaseNotHPOs: HP:0012045 - Retinal flecks, HP:0025010 - Foveal atrophy, HP:0000603 - Central scotoma, HP:0000556 - Retinal dystrophy, HP:0000512 - Abnormal electroretinogram

CaseNotHPOFreeText: Relatively normal foveal architecture.

Genotyping Method: Genetic analysis was performed using Sanger sequencing for the NDP gene, which revealed no pathogenic variants. Exome sequencing was then used with the Illumina HiSeq 2500 platform, which identified two compound heterozygous variants in the ABCA4 gene. Lastly, no mutations were found in the TINF2 gene.

PreviouslyPublished: N/A

Variant: NM_000350.3(ABCA4):c.1373C>T (p.Arg458Cys), NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)

ClinVar: Variation ID: 7888 ( for p.Arg458Cys variant however I believe this is mislabeled for this variant NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu), no variantion ID found for NM_000350.3(ABCA4):c.1373C>T (p.Arg458Cys)

CAID: N/A

SupplementalData: N/A

Case#: Female, family #5, Patient #20

DiseaseAssertion: STGD

FamilyInfo: Proband's sister presented with same clinical prognosis. Sister diagnosed with pattern dystrophy and photoaversion at age 57, with difficulty seeing at night. Sister has nuclear sclerotic and cortical cataracts in both eyes.

CasePresentingHPOs: HP:0000662, HP:0000603, HP:0000603, HP:0000493

CaseHPOFreeText: Proband presented with localized blur at age 62, (late onset) in her left eye. BVCA 20/20-3 and 20/20-2 at age 70. Also has macular lesions with stage 2 fundus flecks.

CaseNotHPOs: n/a

CaseNotHPOFreeText: n/a

Genotyping Method: Genotyping performed at Columbia University, sequencing technology used is not disclosed.

PreviouslyPublished: n/a

Variant: p.N18681, IVS36:c.5196+1G>A

ClinVar: M2) 99067, M6) 99351

CAID: N/A

SupplementalData: Fig 1: Pedigree illustrating ABCA4 variants and the associated Stargardt phenotype for 5 families. Proband Labeled w/ white arrow for each family. Fig 2: retinal scan measuring melanin in 4 patients of family 2. Panel shows bull's-eye ring of RPE atropy. Fig 3: Macular SD-OCT line profile from b-scans. Reflectivity plotted against function of retinal depth. Table 1: table shows patients with p.N18681 variant, type of mutation, and pathogenicity class. Table 2: Patients, age on-set and first symptom

Analysis of ABCA4 variants in 150 families with Stargardt disease. Most of which were of northern or central European ancestry. For comparison, 220 racially matched individuals with no personal history or known family history of STGD served as controls (Anderson et al. 1995; Allikmets et al. 1997b).

PMID: 9973280

Gene: ABCA4

HGNCID: HGNC:34

GenotypingMethod: combined SSCP and heteroduplex analyses of all 50 exons of ABCA4, Sanger sequencing

Pedigree AR417: onset at 8 years 2 segregations, 2 out of 3 offspring affected by STGD, parents and grandmother unaffected Variant: G1961E, A1038V CAID: CA119132, CA119135)

Pedigree AR427: onset at 12 years 1 segregation, 1 out of 2 offspring affected by STGD, parents unaffected Variant: G1961E, C75G CAID: CA119132, CA226985

Pedigree AR370: onset at 13 years 1 segregation, 1 out of 3 offspring affected by STGD, parents and grandparents unaffected Variant: G1961E, C1490Y CAID: CA119132, CA227198

Pedigree AR 218: onset at 14 years family history of AMD, was first reported by Anderson et al. [1995] Variant: G1961E, 2160+1G>C CAID: CA119132, CA226984

Pedigree AR 373: onset at 19 years 2 segregations, 2 out of 3 offspring affected by STGD, parents and grandparents unaffected Variant: G1961E, 4253+5G>T CAID: CA119132, CA227174

Pedigree AR 274: onset at 20 years 1 segregation, 1 out of 4 siblings affected by STGD, parents and grandparents unaffected Variant: G1961E, A1038V CAID: CA119132, CA119135

Annotating here since the full text is a PDF.

Case#: Family AR321 proband, US, 6yo at onset

DiseaseAssertion: Stargardt

FamilyInfo: proband and two other siblings are affected

CasePresentingHPOs: The essential and defining features of STGD were (1) pedigrees with at least one living affected individual compatible with autosomal recessive inheritance; (2) an ophthalmoscopically characteristic retinal disorder in families with both parents living; (3) bilateral central visual loss with both “beaten metal” elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, with or without yellow-pigment epithelial flecks in the macular and/or retinal “near periphery”; and (4) the characteristic fluorescein angiographic feature of a dark choroid (Blacharski 1988).

CaseHPOFreeText:

CaseNotHPOs:

CaseNotHPOFreeText: (1) evidence of autosomal dominant inheritance; (2) any history of night blindness, loss of peripheral vision, or "retinitis pigmentosa"; (3) cataracta complicata or cells in the vitreous; (4) substantially abnormal electroretinographic or electrooculographic responses; (5) no fluorescein angiography performed or no dark choroid documented; (6) neurological disease (including loss of cognition or seizures); 7) drug exposures (especially to antimalarial and agents known to cause crystalline retinopathies); or (8) any "atypical" maculopathies in which a unique diagnosis of STGD could not be established.

PreviouslyPublished: PMID: 8533764

Variant: c.3113C>T p.A1038V; c.1715G>C p.R572P . Heteroduplex and SSCP analyses were used to screen the 50 exons of ABCA4. Linkage analysis and haplotype analysis were previously performed

ClinVar: 99073

CAID: CA226919

SupplementalData: n/a

PMID:39398711

Gene: ABCA4

HGNC ID: 34

Case Annotation Template

Case#: 19-year-old male

DiseaseAssertion: Stargardt disease 1 (STGD1)

FamilyInfo: No family history of eye disease reported. Autosomal recessive inheritance consistent with STGD1. Homozygous ABCA4 variant identified.

CasePresentingHPOs: DecreasedCentralVA, MacularAtrophy, MacularFlecks, PeripapillarySparing, OpticNervePallor

CaseHPOFreeText: Five-year history of progressive bilateral central vision loss, worse at near. Alternating exotropia measuring 16 prism diopters in all gazes OU. Best corrected visual acuity 20/200 OU. Fundus examination revealed pigment deposition and macular mottling. Fundus autofluorescence showed central decreased autofluorescence surrounded by increased autofluorescence. Fluorescein angiography demonstrated dark choroid. OCT showed loss of the central ellipsoid zone with hyperreflective deposits. Multifocal ERG demonstrated significant functional loss.

CaseNotHPOs: NightBlindness

CaseNotHPOFreeText: Patient denied nyctalopia, photophobia, or flashes. Color vision normal on Ishihara testing.

Genotyping Method: Genotyping Method: Next-generation sequencing (NGS) with deletion/duplication analysis (Invitae Corporation).

PreviouslyPublished: N/A

Variant: ABCA4 c.52C>T (p.Arg18Trp)

ClinVar: ClinVarID:7899

CAID: N/A

SupplementalData: N/A

Autofluorescence and A2E production was measured in transgenic mice and showed loss of function of ABCA4 protein indicating that this variant impacts protein function (PS3; PMIDs).

another case with 541 variant potentially not in cis with 1038

PMID: 22863181

Gene: ABCA4

HGNC ID: 34

This variant is reported in Table S6, but only location, predictions, frequencies, etc are reported for it, not cases.

This variant is reported in Table S6, but only location, predictions, frequencies, etc are reported for it, not cases.

PMID: 36471740

Gene: ABCA4

HGNC ID: 34

Unable to find this variant in the text or supplementary even though Mastermind says it's in supplemental MOESM1

Case#: Patient 225, Female, age of onset 7 y.o, Poland

DiseaseAssertion: STGD-1

FamilyInfo: no given family information.

CasePresentingHPOs: HP:0007722, HP:0000608, HP:0025158

CaseHPOFreeText: RPE atrophy, macular degeneration, central hyper-autofluorescence in fundus autofluorescence

CaseNotHPOs: n/a

CaseNotHPOFreeText: n/a, non-proband identified HPO's mentioned, but not assignable to individual proband.

Genotyping Method: DNA isolated from peripheral blood from patients and relatives via MagNA Pure 24, samples screened with MIPs targeting 108 genes involved in pathogensis of IRD's. PCR completed on library, analysed with NGS fragment analysis kit.

PreviouslyPublished: yes

Variant: c.[1622T>C;3113C>T]

ClinVar: 99067, 7894

CAID: n/a

gnomeAD 0.0001266 allele frequency

SupplementalData: Fig1: List of families displaying pseudo-dominant inheritance. Fig2: Number of alleles for most common variants.

PMID:39967245

Gene: ABCA4

HGNC ID: 34

Case#:39 man

DiseaseAssertion:NA

FamilyInfo:NA

CasePresentingHPOs:Snellen in both eye, visual impairment with night blindnessisual acuity was 20/20Snellen in both eyes, with a minor correction for astig-matism. The anterior segment and intraocular pressurewere within normal limits. On fundus examination, dif-fuse fleck-like lesions were scattered both inside and out-side the arcades, while sharply demarcated areas ofmacular atrophy with foveal sparing, more pronouncedin the left eye, were visible.

CaseHPOFreeText:NA

CaseNotHPOs:NA

CaseNotHPOFreeText:

Genotyping Method:Next-Generation Sequencing (NGS), using theTruSight One Clinical Exome sequencing panel on anIllumina NexSeq500 platform, enriching for 4800 genesincluding ABCA4, CNGB3, ELOVL4, PROM1, and PRPH2

PreviouslyPublished:Under refernces?

Variant:WDR19 variants:the novel deletion at c.1777 + 1 within the donor splicingsite (class 4) and the rare c.1430 G>T variant causing theamino-acid substitution p.(Arg477Leu) (class 3) in the putative protein. Additionally, a heterozygous c.1793A>G(class 3) variant in the CDH23 gene was found, though it was deemed as not contributive to the patient’s clinical phenotype. All reported variants were confirmed throughSanger sequencing

ClinVar:NA

CAID:NA

SupplementalData:NA

Case#: Family 12 Proband, male, 43yo at onset, Portuguese

DiseaseAssertion: Stargardt

FamilyInfo: no affected family members in pedigree (Fig. 1)

CasePresentingHPOs: HP:0007663

CaseHPOFreeText: "The criteria for STGD phenotype included bilateral central vision loss and pigmentary macular lesions, normal caliber of retinal vessels, absence of pigmented bone spicules, and compatibility with recessive mode of inheritance." Moderate central retinal changes, decreased mfERG responses exclusively in the central 15 degrees

CaseNotHPOs:

CaseNotHPOFreeText:

PreviouslyPublished: n/a

Variant: p.Glu1574X; p.Val931Met. Several other polymorphisms also reported. ABCR400 gene chip microarray, DHPLC

ClinVar: 1460063

CAID: CA341283936

SupplementalData: n/a

PMID: 23949494 HGNC: 34 Gene: ABCA4 DiseaseAssertion: Stargardt Disease

Case#: Bryant Subject JB260, US

DiseaseAssertion: Stargardt

FamilyInfo:

CasePresentingHPOs: "Stargardt disease is a childhood-onset macular degeneration and is most commonly caused by mutations in ABCA4. Characteristic yellow flecks are typically seen under the macula during a fundus exam."

CaseHPOFreeText:

CaseNotHPOs:

CaseNotHPOFreeText:

GenotypingMethod: WES; previously screened using arrayed primer extension (APEX) multigene panels for the relevant disease and no disease-causing variants had been identified; PCR and Sanger for verification

PreviouslyPublished: n/a

Variant: c.6119G>A p.Arg2040Gln; c.2879del p.Ala960Aspfs*17

CAID: CA232815

SupplementalData:

PMID:39215425

Gene: ABCA4

HGNC ID: 34

case27-year-old male, the brother of case 1

DiseaseAssertion: Table 1 The summary of the clinical assessment of IRD patients’ family in this research fro there down they did a whole pannel on the family

Pedigree one can be fore form the beggginnings of case presention section?

CasePresentingHPOs: Case 2, a 27-year-old male, the brother of case 1 had blurry vision which was not corrected with an eyeglass and inconveniences under bright light starting from 14 years ago. Case 2 also underwent a fundus examination after finding that case 1 was RP. In further examination of those patients and their family members found that case 1 was confirmed as RP and case 2

CaseHPOFreeText:NA

CaseNotHPOs:NA

CaseNotHPOFreeText:NA

Genotyping Method:NA

PreviouslyPublished:NA

Variant:NA

ClinVar:

CAID:NA

SupplementalData:NA

Inheritance pattern Autosomal Recessive

Case#: Patients were identified from the inherited retinal disease (IRD) database at UC San Diego (UCSD).

DiseaseAssertion: RP with macular edema

FamilyInfo:

CasePresentingHPOs:

CaseHPOFreeText: Dx of RP based on "a history of progressive peripheral vision loss or nyctalopia, and ocular examination findings of RP including bone spicule pigmentation, disc pallor and attenuated vessels and genetic confirmation."

CaseNotHPOs:

CaseNotHPOFreeText:

GenotypingMethod: Next-generation sequencing (NGS), exome sequencing, and/or targeted Sanger sequencing were the primary genetic testing approaches.

PreviouslyPublished: PMID:10206579 is referenced but it seems a reference to the variant and not the proband

Variant: c.6383A>G (p.His2128Arg); c.3G>T (p.Met1?). phase unknown

ClinVar: 99455

CAID: CA227399

SupplementalData: Variant is found in table S2

Case#: Female, family #5, Patient #20

DiseaseAssertion: STGD

FamilyInfo: Proband's sister presented with same clinical prognosis. Sister diagnosed with pattern dystrophy and photoaversion at age 57, with difficulty seeing at night. Sister has nuclear sclerotic and cortical cataracts in both eyes.

CasePresentingHPOs: HP:0000662, HP:0000603, HP:0000603, HP:0000493

CaseHPOFreeText: Proband presented with localized blur at age 62, (late onset) in her left eye. BVCA 20/20-3 and 20/20-2 at age 70. Also has macular lesions with stage 2 fundus flecks.

CaseNotHPOs: n/a

CaseNotHPOFreeText: n/a

Genotyping Method: Genotyping performed at Columbia University, sequencing technology used is not disclosed.

PreviouslyPublished: n/a

Variant: p.N18681, IVS36:c.5196+1G>A

ClinVar: M2) 99067, M6) 99351

CAID: N/A

SupplementalData: Fig 1: Pedigree illustrating ABCA4 variants and the associated Stargardt phenotype for 5 families. Proband Labeled w/ white arrow for each family. Fig 2: retinal scan measuring melanin in 4 patients of family 2. Panel shows bull's-eye ring of RPE atropy. Fig 3: Macular SD-OCT line profile from b-scans. Reflectivity plotted against function of retinal depth. Table 1: table shows patients with p.N18681 variant, type of mutation, and pathogenicity class. Table 2: Patients, age on-set and first symptom

Case#: Patient 225, Female, age of onset 7 y.o, Poland

DiseaseAssertion: STGD-1

FamilyInfo: no given family information.

CasePresentingHPOs: HP:0007722, HP:0000608, HP:0025158

CaseHPOFreeText: RPE atrophy, macular degeneration, central hyper-autofluorescence in fundus autofluorescence

CaseNotHPOs: n/a

CaseNotHPOFreeText: n/a, non-proband identified HPO's mentioned, but not assignable to individual proband.

Genotyping Method: DNA isolated from peripheral blood from patients and relatives via MagNA Pure 24, samples screened with MIPs targeting 108 genes involved in pathogensis of IRD's. PCR completed on library, analysed with NGS fragment analysis kit.

PreviouslyPublished: yes

Variant: c.[1622T>C;3113C>T]

ClinVar: 99067, 7894

CAID: n/a

gnomeAD 0.0001266 allele frequency

SupplementalData: Fig1: List of families displaying pseudo-dominant inheritance. Fig2: Number of alleles for most common variants.

Case#: 1

DiseaseAssertion: stargardt disease originally but didn;t have fishtail flecks

FamilyInfo: both unaffected parents carrying heterozygous MFSD8 variants

CasePresentingHPOs:HP:0001272

CaseHPOFreeText:at 5 years old BCVA was measured at a Snellen equivalent at 0.13 in both eyes, at age 8, BCVA had decreased to 0.07 in both eyes, complete absence of all retinal responses on full‐field flash ERG, No fishtail flecks typical of Stargardt disease were observed

CaseNotHPOs: n/a

CaseNotHPOFreeText:n/a

Genotyping Method: HaloPlex target enrichment kit amplified and sequenced using illumina, then WES

PreviouslyPublished: n/a

Variant: c.3113C>T p.(Ala1038Val)

ClinVar: https://www.ncbi.nlm.nih.gov/clinvar/variation/7894/

SupplementalData: MFSD8 variants identified

Case#: 19 year old woman

DiseaseAssertion: Stargardt disease (STGD)

FamilyInfo: no family history of ocular disease

CasePresentingHPOs:HP:0025158

CaseHPOFreeText:20/25 in the right eye and 20/25-1 in the left eye, small irregular perifoveal lesions of both increased and decreased autofluorescence

CaseNotHPOs:na

CaseNotHPOFreeText:na

Genotyping Method: next gen sequencing

PreviouslyPublished: na

Variant: c.6079C > T, p.(Leu2027Phe) c.4139C > T, p.(Pro1380Leu)

ClinVar: not found not found

CAID: not found not found

SupplementalData: “black shadow” in the right eye after getting hit by a volley ball

PMID:39917552

Gene: ABCA4

HGNC ID: 34

Case#: 43 year old woman II:2

DiseaseAssertion: Stargardt disease (STGD1)

FamilyInfo: none of family had co-existing systemic disorders, father carried variant, probands affected suster did not

CasePresentingHPOs:HP:0000007

CaseHPOFreeText: loss of ellipsoid zone, mascular dystrophy with features of bull's eye maculopathy,

CaseNotHPOs: na

CaseNotHPOFreeText: na

Genotyping Method: sanger sequencing

PreviouslyPublished: n/a

Variant: c.4685 T > C, p.(I1562T)

ClinVar: not found

CAID: not found

SupplementalData: probands affected sister did not carry the ABAA4 variant, indicating ABCA4 was not relevant to mascular dystrophy in family, CRX variant was also found

Case#:case 1 II:4

DiseaseAssertion: Stargardt disease (STGD1)

FamilyInfo: mother has identical phenotype as proband, dad and sister asymptomatic, brother was symptomatic at 8 years old, other brother symptomatic at 15 years old.

CasePresentingHPOs: HP:0000007

CaseHPOFreeText: at age 50, with central visual imparement in right eye, 20/40 right, 20/20 left, linear and branching hyperautofluorescent subretinal deposits and extrafoveal RPE atrophy in both eyes,

CaseNotHPOs: n/a

CaseNotHPOFreeText: n/a

Genotyping Method:

PreviouslyPublished: n/a

Variant: c.6031_6044delins18M/p.(Ile2003LeufsTer41)

ClinVar: not found

CAID: not found

SupplementalData:

PMID:31836589

Gene: ABCA4

HGNC ID: 34

PMID:32043016

Gene: ABCA4

HGNC ID: 34

PMID:31721179

Gene: ABCA4

HGNC ID: 34

Case#: 10 years old

DiseaseAssertion:See Table 1

FamilyInfo: Not Mentioned

CasePresentingHPOs: Not specified

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/a

CasePreviousTesting: See Table 2

Variant: NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu)

ClinVar: 7904 https://www.ncbi.nlm.nih.gov/clinvar/variation/7904/

CAID: CA129033

gnomAD: 0.00030430 https://gnomad.broadinstitute.org/variant/chr1-94031110-G-A?dataset=gnomad_r4

SupplementalData: Table 2

Case#: Age is not specified (Age of onset: 15 years old, with the time from onset: 8 years)

DiseaseAssertion: Presented with macular flecks and alterations in the retinal pigment epithelium (RPE) subretinal deposits.

FamilyInfo: Consanguinity within the family

CasePresentingHPOs: HP:0000608, HP:0008035 (Macular Degeneration, Retinis pigmentosa inversa)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: Visual Acuity: 20/20

CasePreviousTesting: See Table 2

Variant: NM_000350.3(ABCA4):C.4793C>A (p.Ala1598Asp)

ClinVar: 99321 https://www.ncbi.nlm.nih.gov/clinvar/variation/99321/

CAID: CA227239

gnomAD: 0.00002631 https://gnomad.broadinstitute.org/variant/1-94021695-G-T?dataset=gnomad_r3

SupplementalData: Table 2, Results Section

for - stats - 2025 - digital nomads - 34 million - with crypto - 10 million - rootless - SOURCE - Youtube Ma Earth channel interview - Devcon 2024 - Cosmo Local Commoning with Web 3 - Michel Bauwens - 2025, Jan 2

Find out more! What does the Monroe Doctrine say? (Summary)

Cite your source(s)!

1:24:34 Money is not the scare resource. Money is the organising tool that mobilises people and tangible resources to manifest a vision

for - stats - 25 to 34 year old people of color is earliest U.S. working class cohort to transition in the year 2021.

https://en.wikipedia.org/wiki/Shmita

During shmita, the land is left to lie fallow and all agricultural activity, including plowing, planting, pruning and harvesting, is forbidden by halakha (Jewish law).

The sabbath year (shmita; Hebrew: שמיטה, literally "release"), also called the sabbatical year or shǝvi'it (שביעית‎, literally "seventh"), or "Sabbath of The Land", is the seventh year of the seven-year agricultural cycle mandated by the Torah in the Land of Israel and is observed in Judaism.

§ 122 Bekanntgabe des Verwaltungsakts

(1) Ein Verwaltungsakt ist demjenigen Beteiligten bekannt zu geben, für den er bestimmt ist oder der von ihm betroffen wird. § 34 Abs. 2 ist entsprechend anzuwenden. Der Verwaltungsakt kann auch gegenüber einem Bevollmächtigten bekannt gegeben werden. Er soll dem Bevollmächtigten bekannt gegeben werden, wenn der Finanzbehörde eine schriftliche oder eine nach amtlich vorgeschriebenem Datensatz elektronisch übermittelte Empfangsvollmacht vorliegt, solange dem Bevollmächtigten nicht eine Zurückweisung nach § 80 Absatz 7 bekannt gegeben worden ist.

AssayResult: 4.8

AssayResultAssertion: Normal

StandardErrorMean: 0.23

HGVS: NM_024675.3:c.2755G>A p.(Val919Ile)

AssayResult: 106.8

AssayResultAssertion: Not reported

PValue: > 0.9999

Comment: Exact values reported in Table S3.

HGVS: NM_024675.3:c.344G>T p.(Gly115Val)

AssayResult: 1.24 foci/cell

AssayResultAssertion: Abnormal

Range: 0 - 25

Comment: Exact values reported in "Source Data" file

AssayResult: 27.29

AssayResultAssertion: Not reported

ReplicateCount: 2

StandardErrorMean: 6.53

Comment: Exact values reported in “Source Data” file.

AssayResult: 8.41

AssayResultAssertion: Abnormal

ReplicateCount: 2

StandardErrorMean: 1.95

Comment: Exact values reported in “Source Data” file.

AssayResult: 6.53

AssayResultAssertion: Abnormal

ReplicateCount: 2

StandardDeviation: 0.29

StandardErrorMean: 0.21

Comment: Exact values reported in “Source Data” file.

HGVS: NM_024675.3:c.2882T>C p.(L961P)

AssayResult: 0.2

AssayResultAssertion: Abnormal

ReplicateCount: 15

StandardErrorMean: 0.2

Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

HGVS: NM_198056.2:c.278T>C p.(Phe93Ser)

AssayResult: 61

AssayResultAssertion: Normal

Comment: See Table S2 for details

AssayResult: 10.8

AssayResultAssertion: Abnormal

Comment: See Table S2 for details

HGVS: NM_000546.5:c.690del p.(Thr231Profs*16)

§§. 21-36 & § 91(1) of the Constitution Act, 1867

Referenced in Re: Authority of Parliament in relation to the Upper House, [1980] 1 SCR 54, 1979 CanLII 169 (SCC)

§§. 21-36 & § 91(1) of the Constitution Act, 1867

Referenced in Re: Authority of Parliament in relation to the Upper House, [1980] 1 SCR 54, 1979 CanLII 169 (SCC)

§§. 21-36 & § 91(1) of the Constitution Act, 1867

Referenced in Re: Authority of Parliament in relation to the Upper House, [1980] 1 SCR 54, 1979 CanLII 169 (SCC)

§.34 of the Constitution Act, 1867.

§.34 of the Constitution Act, 1867.