ClinVar Miner

List of variants in gene PLOD1 reported as likely pathogenic for Ehlers-Danlos syndrome

Included ClinVar conditions (43):

Brittle cornea syndrome 1
Brittle cornea syndrome 2
Cardiac valvular dysplasia, X-linked
Cardiac valvular dysplasia, X-linked; FG syndrome 2; Periventricular nodular heterotopia 1; Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked; Melnick-Needles syndrome; Oto-palato-digital syndrome, type I; Oto-palato-digital syndrome, type II; Terminal osseous dysplasia; Frontometaphyseal dysplasia 1
Cardiac valvular dysplasia, X-linked; FG syndrome 2; Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type I; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 1
Complement component c1s deficiency; Ehlers-Danlos syndrome, periodontal type, 2
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2
EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2
Ehlers-Danlos syndrome
Ehlers-Danlos syndrome classic type 2
Ehlers-Danlos syndrome classic type 2; Ehlers-Danlos syndrome, classic type
Ehlers-Danlos syndrome dermatosparaxis type
Ehlers-Danlos syndrome due to tenascin-X deficiency
Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8
Ehlers-Danlos syndrome progeroid type
Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form
Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form; Osteogenesis imperfecta type I; EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2
Ehlers-Danlos syndrome, classic type
Ehlers-Danlos syndrome, classic type; Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, hydroxylysine-deficient
Ehlers-Danlos syndrome, musculocontractural type
Ehlers-Danlos syndrome, musculocontractural type 2
Ehlers-Danlos syndrome, periodontal type, 2
Ehlers-Danlos syndrome, procollagen proteinase deficient
Ehlers-Danlos syndrome, procollagen proteinase deficient; Osteogenesis imperfecta
Ehlers-Danlos syndrome, progeroid type, 2
Ehlers-Danlos syndrome, progeroid type, 2; Spondyloepimetaphyseal dysplasia with joint laxity
Ehlers-Danlos syndrome, type 3
Ehlers-Danlos syndrome, type 4
Ehlers-Danlos syndrome, type 4; Ehlers-Danlos syndrome, type 3
Ehlers-Danlos syndrome, type 8
Infantile cortical hyperostosis; Ehlers-Danlos syndrome, classic type; Ehlers-Danlos syndrome, procollagen proteinase deficient; Osteogenesis imperfecta type I
Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, recessive perinatal lethal; Osteogenesis imperfecta type III; Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form; EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2
Osteogenesis imperfecta with normal sclerae, dominant form; Postmenopausal osteoporosis; Osteogenesis imperfecta, recessive perinatal lethal; Osteogenesis imperfecta type III; Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form; EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2
Osteogenesis imperfecta with normal sclerae, dominant form; Postmenopausal osteoporosis; Osteogenesis imperfecta, recessive perinatal lethal; Osteogenesis imperfecta type III; Infantile cortical hyperostosis; Ehlers-Danlos syndrome, procollagen proteinase deficient; Osteogenesis imperfecta type I
Osteogenesis imperfecta, recessive perinatal lethal; Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form; Ehlers-Danlos syndrome, procollagen proteinase deficient
Periventricular nodular heterotopia 1
Periventricular nodular heterotopia 1; Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked
Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia
Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 1
Spondylocheirodysplasia, Ehlers-Danlos syndrome-like
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures; Ehlers-Danlos syndrome, progeroid type, 2

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Gene type:		Distinguish antisense genes from sense genes
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Total variants: 4

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HGVS	dbSNP
NM_000302.3(PLOD1):c.[136C>T];[2075C>T]
NM_000302.4(PLOD1):c.1329-1G>T	rs112460511
NM_000302.4(PLOD1):c.1470+2T>C	rs886043927
NM_000302.4(PLOD1):c.2008C>T (p.Arg670Ter)	rs121913554

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