ClinVar Genomic variation as it relates to human health
NM_001171.5(ABCC6):c.2996-1724_4209-478del
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_001171.5(ABCC6):c.2996-1724_4209-478del
Variation ID: 433442 Accession: VCV000433442.3
- Type and length
-
Deletion, 16,408 bp
- Location
-
Cytogenetic: 16p13.11 16: 16151250-16167657 (GRCh38) [ NCBI UCSC ] 16: 16245107-16261514 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Mar 18, 2021 Mar 18, 2021 Mar 12, 2021 - HGVS
-
Nucleotide Protein Molecular
consequenceNC_000016.10:g.16151250_16167657del NC_000016.9:g.16245107_16261514del - Protein change
- Other names
- -
- Canonical SPDI
- -
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
-
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
-
- Links
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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ABCC6 | - | - |
GRCh38 GRCh38 GRCh37 |
1445 | 1802 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Uncertain significance (1) |
no assertion criteria provided
|
Mar 12, 2021 | RCV000499352.3 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
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Uncertain significance
(Mar 12, 2021)
|
no assertion criteria provided
Method: research
|
Autosomal recessive inherited pseudoxanthoma elasticum
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
|
PXE International
Accession: SCV000589206.2
First in ClinVar: Oct 27, 2017 Last updated: Mar 18, 2021 |
Observation 1:
Number of individuals with the variant: 1
Clinical Features:
Papule (present) , Skin plaque (present) , Angioid streaks of the fundus (present)
Tissue: blood
Method: long PCR
Observation 2:
Number of individuals with the variant: 1
Clinical Features:
Papule (present) , Skin plaque (present) , Angioid streaks of the fundus (present)
Tissue: blood
Method: long PCR
Observation 3:
Number of individuals with the variant: 1
Clinical Features:
Papule (present) , Angioid streaks of the fundus (present)
Tissue: blood
Method: long PCR
Observation 4:
Number of individuals with the variant: 1
Clinical Features:
Papule (present) , Skin plaque (present) , Retinal hemorrhage (present) , Weak or absent arterial pulse (present)
Tissue: blood
Method: long PCR
Observation 5:
Number of individuals with the variant: 1
Clinical Features:
Papule (present) , Skin plaque (present) , Retinal hemorrhage (present) , Weak or absent arterial pulse (present)
Tissue: blood
Method: long PCR
Observation 6:
Number of individuals with the variant: 1
Clinical Features:
Papule (present)
Tissue: blood
Method: long PCR
Observation 7:
Number of individuals with the variant: 1
Clinical Features:
Transient ischemic attack (present) , Papule (present) , Skin plaque (present) , Angioid streaks of the fundus (present) , Intermittent claudication (present)
Tissue: blood
Method: long PCR
Observation 8:
Number of individuals with the variant: 1
Clinical Features:
Transient ischemic attack (present) , Papule (present) , Skin plaque (present) , Angioid streaks of the fundus (present) , Intermittent claudication (present)
Tissue: blood
Method: long PCR
Observation 9:
Number of individuals with the variant: 1
Clinical Features:
Papule (present) , Angioid streaks of the fundus (present) , Weak or absent arterial pulse (present)
Tissue: blood
Method: long PCR
Observation 10:
Number of individuals with the variant: 1
Clinical Features:
Papule (present) , Angioid streaks of the fundus (present)
Tissue: blood
Method: long PCR
Observation 11:
Number of individuals with the variant: 1
Clinical Features:
Papule (present) , Skin plaque (present) , Angioid streaks of the fundus (present)
Tissue: blood
Method: long PCR
Observation 12:
Number of individuals with the variant: 1
Clinical Features:
Papule (present) , Skin plaque (present) , Angioid streaks of the fundus (present)
Tissue: blood
Method: long PCR
Observation 13:
Number of individuals with the variant: 1
Clinical Features:
Papule (present)
Tissue: blood
Method: long PCR
Observation 14:
Number of individuals with the variant: 1
Clinical Features:
Papule (present) , Skin plaque (present) , Angioid streaks of the fundus (present) , Vascular surgery (present)
Tissue: blood
Method: long PCR
Observation 15:
Number of individuals with the variant: 1
Clinical Features:
Papule (present)
Tissue: blood
Method: long PCR
Observation 16:
Number of individuals with the variant: 1
Clinical Features:
Papule (present)
Tissue: blood
Method: long PCR
Observation 17:
Number of individuals with the variant: 1
Clinical Features:
Papule (present) , Skin plaque (present) , Retinal hemorrhage (present) , Intermittent claudication (present)
Tissue: blood
Method: long PCR
Observation 18:
Number of individuals with the variant: 1
Clinical Features:
Renal calcification (present) , Papule (present) , Skin plaque (present) , Angioid streaks of the fundus (present) , Intermittent claudication (present) , Angina pectoris (present) … (more)
Renal calcification (present) , Papule (present) , Skin plaque (present) , Angioid streaks of the fundus (present) , Intermittent claudication (present) , Angina pectoris (present) , Abnormal EKG (present) (less)
Tissue: blood
Method: long PCR
Observation 19:
Number of individuals with the variant: 1
Clinical Features:
Retinal hemorrhage (present)
Tissue: blood
Method: long PCR
Observation 20:
Number of individuals with the variant: 1
Clinical Features:
Papule (present) , Retinal hemorrhage (present) , Gastrointestinal hemorrhage (present) , Weak or absent arterial pulse (present) , Myocardial infarction (present)
Tissue: blood
Method: long PCR
Observation 21:
Number of individuals with the variant: 1
Clinical Features:
Papule (present) , Skin plaque (present) , Angioid streaks of the fundus (present) , Intermittent claudication (present)
Tissue: blood
Method: long PCR
Observation 22:
Number of individuals with the variant: 1
Clinical Features:
Papule (present) , Skin plaque (present) , Angioid streaks of the fundus (present)
Tissue: blood
Method: long PCR
Observation 23:
Number of individuals with the variant: 1
Clinical Features:
Papule (present) , Skin plaque (present) , Angioid streaks of the fundus (present)
Tissue: blood
Method: long PCR
Observation 24:
Number of individuals with the variant: 1
Clinical Features:
Retinal hemorrhage (present)
Tissue: blood
Method: long PCR
Observation 25:
Number of individuals with the variant: 1
Clinical Features:
Papule (present) , Skin plaque (present) , Retinal hemorrhage (present) , Weak or absent arterial pulse (present) , Angina pectoris (present) , Abnormal EKG (present)
Tissue: blood
Method: long PCR
Observation 26:
Number of individuals with the variant: 1
Clinical Features:
Papule (present) , Angioid streaks of the fundus (present)
Tissue: blood
Method: long PCR
Observation 27:
Number of individuals with the variant: 1
Clinical Features:
Papule (present) , Angioid streaks of the fundus (present)
Tissue: blood
Method: long PCR
Observation 28:
Number of individuals with the variant: 1
Clinical Features:
Renal calcification (present) , Papule (present) , Skin plaque (present) , Retinal hemorrhage (present) , Angina pectoris (present) , Abnormal EKG (present)
Tissue: blood
Method: long PCR
Observation 29:
Number of individuals with the variant: 1
Clinical Features:
Papule (present) , Skin plaque (present) , Angioid streaks of the fundus (present) , Weak or absent arterial pulse (present) , Angina pectoris (present) , … (more)
Papule (present) , Skin plaque (present) , Angioid streaks of the fundus (present) , Weak or absent arterial pulse (present) , Angina pectoris (present) , Abnormal EKG (present) (less)
Tissue: blood
Method: long PCR
Observation 30:
Number of individuals with the variant: 1
Clinical Features:
Papule (present) , Angioid streaks of the fundus (present)
Tissue: blood
Method: long PCR
Observation 31:
Number of individuals with the variant: 1
Clinical Features:
Papule (present) , Skin plaque (present) , Angioid streaks of the fundus (present)
Tissue: blood
Method: long PCR
Observation 32:
Number of individuals with the variant: 1
Tissue: blood
Method: long PCR
Observation 33:
Number of individuals with the variant: 1
Tissue: blood
Method: long PCR
Observation 34:
Number of individuals with the variant: 1
Clinical Features:
Papule (present) , Skin plaque (present) , Retinal hemorrhage (present) , Weak or absent arterial pulse (present)
Tissue: blood
Method: long PCR
Observation 35:
Number of individuals with the variant: 1
Clinical Features:
Stroke disorder (present) , Papule (present) , Angioid streaks of the fundus (present) , Vascular surgery (present)
Tissue: blood
Method: long PCR
Observation 36:
Number of individuals with the variant: 1
Clinical Features:
Papule (present) , Peau d'orange retinal changes (present)
Tissue: blood
Method: long PCR
Observation 37:
Number of individuals with the variant: 1
Clinical Features:
Papule (present) , Skin plaque (present) , Retinal hemorrhage (present) , Weak or absent arterial pulse (present) , Angina pectoris (present) , Abnormal EKG (present)
Tissue: blood
Method: long PCR
Observation 38:
Number of individuals with the variant: 1
Clinical Features:
Angioid streaks of the fundus (present)
Tissue: blood
Observation 39:
Number of individuals with the variant: 1
Clinical Features:
Papule (present) , Skin plaque (present) , Retinal hemorrhage (present) , Gastrointestinal hemorrhage (present) , Vascular surgery (present) , Myocardial infarction (present)
Tissue: blood
Method: long PCR
Observation 40:
Number of individuals with the variant: 1
Clinical Features:
Retinal hemorrhage (present)
Tissue: blood
Observation 41:
Number of individuals with the variant: 1
Clinical Features:
Retinal hemorrhage (present)
Tissue: blood
Observation 42:
Number of individuals with the variant: 1
Clinical Features:
Stroke disorder (present) , Papule (present) , Skin plaque (present) , Angioid streaks of the fundus (present) , Vascular surgery (present)
Tissue: blood
Method: long PCR
Observation 43:
Number of individuals with the variant: 1
Clinical Features:
Papule (present) , Skin plaque (present) , Retinal hemorrhage (present) , Vascular surgery (present) , Myocardial infarction (present)
Tissue: blood
Method: long PCR
Observation 44:
Number of individuals with the variant: 1
Clinical Features:
Nephrolithiasis (present) , Abnormally lax or hyperextensible skin (present) , Retinal hemorrhage (present) , Vascular surgery (present) , Angina pectoris (present) , Abnormal EKG (present)
Tissue: blood
Method: long PCR
Observation 45:
Number of individuals with the variant: 1
Clinical Features:
Nephrolithiasis (present) , Papule (present) , Skin plaque (present) , Retinal hemorrhage (present) , Weak or absent arterial pulse (present)
Tissue: blood
Method: long PCR
Observation 46:
Number of individuals with the variant: 1
Clinical Features:
Nephrolithiasis (present) , Papule (present) , Skin plaque (present) , Retinal hemorrhage (present) , Weak or absent arterial pulse (present)
Tissue: blood
Method: long PCR
Observation 47:
Number of individuals with the variant: 1
Clinical Features:
Papule (present) , Skin plaque (present) , Angioid streaks of the fundus (present)
Tissue: blood
Method: long PCR
Observation 48:
Number of individuals with the variant: 1
Clinical Features:
Papule (present) , Skin plaque (present) , Retinal hemorrhage (present)
Tissue: blood
Method: long PCR
Observation 49:
Number of individuals with the variant: 1
Clinical Features:
Abnormally lax or hyperextensible skin (present) , Retinal hemorrhage (present) , Intermittent claudication (present) , Angina pectoris (present) , Abnormal EKG (present)
Age: 30-39 years
Ethnicity/Population group: Causasians
Tissue: blood
Method: sanger sequencing
Observation 50:
Number of individuals with the variant: 1
Clinical Features:
Abnormally lax or hyperextensible skin (present) , Angioid streaks of the fundus (present) , Gastrointestinal hemorrhage (present) , Intermittent claudication (present)
Age: 50-59 years
Ethnicity/Population group: American Indian or Alaska Native
Tissue: blood
Method: sanger sequencing
Observation 51:
Number of individuals with the variant: 1
Clinical Features:
Abnormally lax or hyperextensible skin (present) , Intermittent claudication (present)
Age: 30-39 years
Ethnicity/Population group: Causasians
Tissue: blood
Method: sanger sequencing
Observation 52:
Number of individuals with the variant: 1
Clinical Features:
Papule (present) , Skin plaque (present) , Retinal hemorrhage (present) , Intermittent claudication (present)
Age: 40-49 years
Ethnicity/Population group: Causasians
Tissue: blood
Method: sanger sequencing
Observation 53:
Number of individuals with the variant: 1
Clinical Features:
Papule (present) , Skin plaque (present) , Intermittent claudication (present)
Age: 60-69 years
Ethnicity/Population group: Causasians
Tissue: blood
Method: sanger sequencing
Observation 54:
Number of individuals with the variant: 1
Clinical Features:
Abnormally lax or hyperextensible skin (present) , Retinal hemorrhage (present) , Vascular surgery (present)
Age: 60-69 years
Ethnicity/Population group: .
Tissue: blood
Method: sanger sequencing
Observation 55:
Number of individuals with the variant: 1
Clinical Features:
Abnormally lax or hyperextensible skin (present) , Retinal hemorrhage (present) , Intermittent claudication (present)
Age: 50-59 years
Ethnicity/Population group: .
Tissue: blood
Method: sanger sequencing
Observation 56:
Number of individuals with the variant: 1
Clinical Features:
Papule (present) , Skin plaque (present) , Retinal hemorrhage (present) , Intermittent claudication (present)
Age: 50-59 years
Ethnicity/Population group: Causasians
Tissue: blood
Method: sanger sequencing
Observation 57:
Number of individuals with the variant: 1
Clinical Features:
Abnormally lax or hyperextensible skin (present) , Weak or absent arterial pulse (present)
Age: 30-39 years
Ethnicity/Population group: Causasians
Tissue: blood
Method: sanger sequencing
Observation 58:
Number of individuals with the variant: 1
Clinical Features:
Abnormally lax or hyperextensible skin (present) , Retinal hemorrhage (present)
Age: 50-59 years
Ethnicity/Population group: Causasians
Tissue: blood
Method: sanger sequencing
Observation 59:
Number of individuals with the variant: 1
Clinical Features:
Papule (present) , Skin plaque (present) , Retinal hemorrhage (present) , Intermittent claudication (present)
Age: 40-49 years
Ethnicity/Population group: Causasians
Tissue: blood
Method: sanger sequencing
Observation 60:
Number of individuals with the variant: 1
Clinical Features:
Abnormally lax or hyperextensible skin (present) , Retinal hemorrhage (present) , Vascular surgery (present)
Age: 60-69 years
Ethnicity/Population group: Causasians
Tissue: blood
Method: sanger sequencing
Observation 61:
Number of individuals with the variant: 1
Clinical Features:
Papule (present) , Skin plaque (present) , Retinal hemorrhage (present) , Intermittent claudication (present)
Age: 60-69 years
Ethnicity/Population group: .
Tissue: blood
Method: sanger sequencing
Observation 62:
Number of individuals with the variant: 1
Clinical Features:
Papule (present) , Retinal hemorrhage (present) , Intermittent claudication (present)
Age: 30-39 years
Ethnicity/Population group: Causasians
Tissue: blood
Method: sanger sequencing
Observation 63:
Number of individuals with the variant: 1
Clinical Features:
Papule (present) , Skin plaque (present) , Retinal hemorrhage (present) , Intermittent claudication (present)
Age: 50-59 years
Ethnicity/Population group: Causasians
Tissue: blood
Method: sanger sequencing
Observation 64:
Number of individuals with the variant: 1
Clinical Features:
Abnormally lax or hyperextensible skin (present) , Retinal hemorrhage (present) , Vascular surgery (present)
Age: 50-59 years
Ethnicity/Population group: .
Tissue: blood
Method: sanger sequencing
Observation 65:
Number of individuals with the variant: 1
Clinical Features:
Papule (present) , Skin plaque (present) , Retinal hemorrhage (present) , Vascular surgery (present) , Angina pectoris (present) , Abnormal EKG (present)
Age: 50-59 years
Ethnicity/Population group: Causasians
Tissue: blood
Method: sanger sequencing
Observation 66:
Number of individuals with the variant: 1
Clinical Features:
Abnormally lax or hyperextensible skin (present) , Retinal hemorrhage (present) , Angina pectoris (present) , Abnormal EKG (present)
Age: 30-39 years
Ethnicity/Population group: .
Tissue: blood
Method: sanger sequencing
Observation 67:
Number of individuals with the variant: 1
Clinical Features:
Papule (present) , Skin plaque (present)
Age: 60-69 years
Ethnicity/Population group: Causasians
Tissue: blood
Method: sanger sequencing
Observation 68:
Number of individuals with the variant: 1
Clinical Features:
Abnormally lax or hyperextensible skin (present) , Retinal hemorrhage (present)
Age: 40-49 years
Ethnicity/Population group: Causasians
Tissue: blood
Method: sanger sequencing
Observation 69:
Number of individuals with the variant: 1
Clinical Features:
Papule (present) , Skin plaque (present) , Retinal hemorrhage (present) , Intermittent claudication (present)
Age: 30-39 years
Ethnicity/Population group: Causasians
Tissue: blood
Method: sanger sequencing
Observation 70:
Number of individuals with the variant: 1
Clinical Features:
Papule (present) , Retinal hemorrhage (present) , Vascular surgery (present) , Myocardial infarction (present)
Age: 60-69 years
Ethnicity/Population group: Causasians
Tissue: blood
Method: sanger sequencing
Observation 71:
Number of individuals with the variant: 1
Clinical Features:
Papule (present) , Retinal hemorrhage (present) , Vascular surgery (present) , Myocardial infarction (present)
Age: 60-69 years
Ethnicity/Population group: Causasians
Tissue: blood
Method: sanger sequencing
Observation 72:
Number of individuals with the variant: 1
Clinical Features:
Papule (present) , Skin plaque (present) , Retinal hemorrhage (present)
Age: 40-49 years
Ethnicity/Population group: Causasians
Tissue: blood
Method: sanger sequencing
Observation 73:
Number of individuals with the variant: 1
Clinical Features:
Papule (present) , Skin plaque (present)
Age: 20-29 years
Ethnicity/Population group: Causasians
Tissue: blood
Method: sanger sequencing
Observation 74:
Number of individuals with the variant: 1
Clinical Features:
Abnormally lax or hyperextensible skin (present) , Retinal hemorrhage (present) , Gastrointestinal hemorrhage (present) , Intermittent claudication (present) , Angina pectoris (present) , Abnormal EKG … (more)
Abnormally lax or hyperextensible skin (present) , Retinal hemorrhage (present) , Gastrointestinal hemorrhage (present) , Intermittent claudication (present) , Angina pectoris (present) , Abnormal EKG (present) (less)
Age: 50-59 years
Ethnicity/Population group: Causasians
Tissue: blood
Method: sanger sequencing
Observation 75:
Number of individuals with the variant: 1
Clinical Features:
Abnormally lax or hyperextensible skin (present) , Angioid streaks of the fundus (present) , Weak or absent arterial pulse (present)
Age: 0-9 years
Ethnicity/Population group: .
Tissue: blood
Method: sanger sequencing
Observation 76:
Number of individuals with the variant: 1
Clinical Features:
Abnormally lax or hyperextensible skin (present) , Retinal hemorrhage (present) , Weak or absent arterial pulse (present)
Age: 60-69 years
Ethnicity/Population group: Causasians
Tissue: blood
Method: sanger sequencing
Observation 77:
Number of individuals with the variant: 1
Clinical Features:
Abnormally lax or hyperextensible skin (present) , Angioid streaks of the fundus (present) , Intermittent claudication (present)
Age: 50-59 years
Ethnicity/Population group: Causasians
Tissue: blood
Method: sanger sequencing
Observation 78:
Number of individuals with the variant: 1
Clinical Features:
Abnormally lax or hyperextensible skin (present) , Retinal hemorrhage (present) , Intermittent claudication (present) , Angina pectoris (present) , Abnormal EKG (present)
Age: 40-49 years
Ethnicity/Population group: Causasians,American Indian or Alaska Native
Tissue: blood
Method: sanger sequencing
Observation 79:
Number of individuals with the variant: 1
Clinical Features:
Abnormally lax or hyperextensible skin (present) , Retinal hemorrhage (present)
Age: 30-39 years
Ethnicity/Population group: Causasians
Tissue: blood
Method: sanger sequencing
Observation 80:
Number of individuals with the variant: 1
Clinical Features:
Papule (present) , Retinal hemorrhage (present)
Age: 30-39 years
Ethnicity/Population group: Causasians
Tissue: blood
Method: sanger sequencing
Observation 81:
Number of individuals with the variant: 1
Clinical Features:
Papule (present) , Skin plaque (present) , Gastrointestinal hemorrhage (present) , Vascular surgery (present)
Age: 60-69 years
Ethnicity/Population group: Causasians,American Indian or Alaska Native
Tissue: blood
Method: sanger sequencing
Observation 82:
Number of individuals with the variant: 1
Clinical Features:
Abnormally lax or hyperextensible skin (present) , Angioid streaks of the fundus (present) , Intermittent claudication (present) , Angina pectoris (present) , Abnormal EKG (present)
Age: 30-39 years
Ethnicity/Population group: Causasians
Tissue: blood
Method: sanger sequencing
Observation 83:
Number of individuals with the variant: 1
Clinical Features:
Papule (present) , Angioid streaks of the fundus (present)
Age: 10-19 years
Ethnicity/Population group: Causasians
Tissue: blood
Method: sanger sequencing
Observation 84:
Number of individuals with the variant: 1
Clinical Features:
Abnormally lax or hyperextensible skin (present) , Retinal hemorrhage (present) , Vascular surgery (present) , Myocardial infarction (present)
Age: 60-69 years
Ethnicity/Population group: Causasians
Tissue: blood
Method: sanger sequencing
Observation 85:
Number of individuals with the variant: 1
Clinical Features:
Papule (present) , Skin plaque (present) , Retinal hemorrhage (present) , Intermittent claudication (present) , Angina pectoris (present) , Abnormal EKG (present)
Age: 70-79 years
Ethnicity/Population group: Causasians
Tissue: blood
Method: sanger sequencing
Observation 86:
Number of individuals with the variant: 1
Clinical Features:
Papule (present) , Skin plaque (present) , Peau d'orange retinal changes (present)
Age: 10-19 years
Ethnicity/Population group: Causasians
Tissue: blood
Method: sanger sequencing
Observation 87:
Number of individuals with the variant: 1
Clinical Features:
Papule (present) , Angioid streaks of the fundus (present)
Age: 20-29 years
Ethnicity/Population group: Causasians
Tissue: blood
Method: sanger sequencing
Observation 88:
Number of individuals with the variant: 1
Clinical Features:
Papule (present) , Skin plaque (present) , Retinal hemorrhage (present) , Intermittent claudication (present)
Age: 60-69 years
Ethnicity/Population group: Causasians
Tissue: blood
Method: sanger sequencing
Observation 89:
Number of individuals with the variant: 1
Clinical Features:
Abnormally lax or hyperextensible skin (present) , Retinal hemorrhage (present) , Gastrointestinal hemorrhage (present) , Intermittent claudication (present) , Angina pectoris (present) , Abnormal EKG … (more)
Abnormally lax or hyperextensible skin (present) , Retinal hemorrhage (present) , Gastrointestinal hemorrhage (present) , Intermittent claudication (present) , Angina pectoris (present) , Abnormal EKG (present) (less)
Age: 30-39 years
Ethnicity/Population group: .
Tissue: blood
Method: sanger sequencing
Observation 90:
Number of individuals with the variant: 1
Clinical Features:
Retinal hemorrhage (present)
Age: 40-49 years
Ethnicity/Population group: .
Tissue: blood
Method: sanger sequencing
Observation 91:
Number of individuals with the variant: 1
Clinical Features:
Papule (present) , Retinal hemorrhage (present) , Intermittent claudication (present)
Age: 50-59 years
Ethnicity/Population group: Causasians
Tissue: blood
Method: sanger sequencing
Observation 92:
Number of individuals with the variant: 1
Clinical Features:
Abnormally lax or hyperextensible skin (present) , Retinal hemorrhage (present) , Weak or absent arterial pulse (present) , Angina pectoris (present) , Abnormal EKG (present)
Age: 40-49 years
Ethnicity/Population group: Causasians
Tissue: blood
Method: sanger sequencing
Observation 93:
Number of individuals with the variant: 1
Clinical Features:
Papule (present) , Intermittent claudication (present)
Age: 10-19 years
Ethnicity/Population group: Causasians
Tissue: blood
Method: sanger sequencing
Observation 94:
Number of individuals with the variant: 1
Clinical Features:
Papule (present) , Intermittent claudication (present)
Age: 10-19 years
Ethnicity/Population group: Causasians
Tissue: blood
Method: sanger sequencing
Observation 95:
Number of individuals with the variant: 1
Clinical Features:
Abnormally lax or hyperextensible skin (present) , Angioid streaks of the fundus (present) , Intermittent claudication (present)
Age: 0-9 years
Ethnicity/Population group: Causasians
Tissue: blood
Method: sanger sequencing
Observation 96:
Number of individuals with the variant: 1
Clinical Features:
Abnormally lax or hyperextensible skin (present) , Retinal hemorrhage (present) , Intermittent claudication (present)
Age: 30-39 years
Ethnicity/Population group: Causasians
Tissue: blood
Method: sanger sequencing
Observation 97:
Number of individuals with the variant: 1
Clinical Features:
Papule (present) , Skin plaque (present) , Retinal hemorrhage (present) , Gastrointestinal hemorrhage (present) , Intermittent claudication (present) , Myocardial infarction (present)
Age: 40-49 years
Ethnicity/Population group: .
Tissue: blood
Method: sanger sequencing
Observation 98:
Number of individuals with the variant: 1
Clinical Features:
Papule (present) , Retinal hemorrhage (present)
Age: 50-59 years
Ethnicity/Population group: .
Tissue: blood
Method: sanger sequencing
Observation 99:
Number of individuals with the variant: 1
Clinical Features:
Abnormally lax or hyperextensible skin (present) , Angioid streaks of the fundus (present) , Vascular surgery (present) , Angina pectoris (present) , Abnormal EKG (present)
Age: 50-59 years
Ethnicity/Population group: .
Tissue: blood
Method: sanger sequencing
Observation 100:
Number of individuals with the variant: 1
Clinical Features:
Papule (present) , Skin plaque (present) , Retinal hemorrhage (present)
Age: 40-49 years
Ethnicity/Population group: .
Tissue: blood
Method: sanger sequencing
Observation 101:
Number of individuals with the variant: 1
Clinical Features:
Abnormally lax or hyperextensible skin (present) , Retinal hemorrhage (present) , Intermittent claudication (present)
Age: 60-69 years
Ethnicity/Population group: .
Tissue: blood
Method: sanger sequencing
Observation 102:
Number of individuals with the variant: 1
Age: 30-39 years
Ethnicity/Population group: Causasians
Tissue: blood
Method: sanger sequencing
Observation 103:
Number of individuals with the variant: 1
Clinical Features:
Abnormally lax or hyperextensible skin (present) , Angina pectoris (present) , Abnormal EKG (present)
Age: 20-29 years
Ethnicity/Population group: Causasians
Tissue: blood
Method: sanger sequencing
Observation 104:
Number of individuals with the variant: 1
Clinical Features:
Papule (present) , Skin plaque (present) , Retinal hemorrhage (present) , Intermittent claudication (present) , Angina pectoris (present) , Abnormal EKG (present)
Age: 50-59 years
Ethnicity/Population group: Causasians
Tissue: blood
Method: sanger sequencing
Observation 105:
Number of individuals with the variant: 1
Clinical Features:
Papule (present) , Skin plaque (present) , Angioid streaks of the fundus (present) , Weak or absent arterial pulse (present)
Age: 30-39 years
Ethnicity/Population group: .
Tissue: blood
Method: sanger sequencing
Observation 106:
Number of individuals with the variant: 1
Clinical Features:
Angioid streaks of the fundus (present)
Age: 40-49 years
Ethnicity/Population group: Causasians
Tissue: blood
Method: sanger sequencing
Observation 107:
Number of individuals with the variant: 1
Clinical Features:
Papule (present)
Age: 20-29 years
Ethnicity/Population group: Causasians
Tissue: blood
Method: sanger sequencing
Observation 108:
Number of individuals with the variant: 1
Clinical Features:
Papule (present) , Skin plaque (present) , Angioid streaks of the fundus (present)
Age: 30-39 years
Ethnicity/Population group: .
Tissue: blood
Method: sanger sequencing
Observation 109:
Number of individuals with the variant: 1
Age: 0-9 years
Ethnicity/Population group: Causasians
Tissue: blood
Method: sanger sequencing
Observation 110:
Number of individuals with the variant: 1
Clinical Features:
Abnormally lax or hyperextensible skin (present) , Retinal hemorrhage (present) , Weak or absent arterial pulse (present)
Age: 0-9 years
Ethnicity/Population group: Causasians
Tissue: blood
Method: sanger sequencing
Observation 111:
Number of individuals with the variant: 1
Clinical Features:
Abnormally lax or hyperextensible skin (present) , Retinal hemorrhage (present) , Weak or absent arterial pulse (present)
Age: 0-9 years
Ethnicity/Population group: Causasians
Tissue: blood
Method: sanger sequencing
Observation 112:
Number of individuals with the variant: 1
Clinical Features:
Angioid streaks of the fundus (present)
Age: 20-29 years
Ethnicity/Population group: .
Tissue: blood
Method: sanger sequencing
Observation 113:
Number of individuals with the variant: 1
Age: 0-9 years
Ethnicity/Population group: Causasians
Tissue: blood
Method: sanger sequencing
Observation 114:
Number of individuals with the variant: 1
Clinical Features:
Angioid streaks of the fundus (present)
Age: 30-39 years
Ethnicity/Population group: .
Tissue: blood
Method: sanger sequencing
Observation 115:
Number of individuals with the variant: 1
Age: 0-9 years
Ethnicity/Population group: .
Tissue: blood
Method: sanger sequencing
|
Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpThere are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for this variant ...
HelpRecord last updated Feb 14, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.