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MCID: BTN003
MIFTS: 56

Biotinidase Deficiency

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases, Metabolic diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Biotinidase Deficiency

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MalaCards integrated aliases for Biotinidase Deficiency:

Name: Biotinidase Deficiency 57 12 76 24 53 25 59 75 37 29 13 55 6 44 15 73
Late-Onset Multiple Carboxylase Deficiency 12 24 53 25 59 75
Btd Deficiency 57 12 53 25 59 75
Multiple Carboxylase Deficiency, Juvenile-Onset 57 75 73
Multiple Carboxylase Deficiency, Late-Onset 57 25 75
Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency 53 25
Juvenile-Onset Multiple Carboxylase Deficiency 12 59
Biotin Deficiency 53 73
Carboxylase Deficiency, Multiple, Late-Onset 25
Deficiency of Biotinidase 12
Biotin Deficiency Disease 73
Deficiency, Biotinidase 40
Mcd Juvenile Form 75
Late-Onset Mcd 75
Biotinidase 13
Biot 25

Characteristics:

Orphanet epidemiological data:

59
biotinidase deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
age of onset usually 1 week to 2 years


HPO:

32
biotinidase deficiency:
Inheritance autosomal recessive inheritance


GeneReviews:

24
Penetrance Almost all children with profound biotinidase deficiency become symptomatic or are at risk of becoming symptomatic if not treated...

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Skin diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare neurological diseases
Rare skin diseases
Inborn errors of metabolism


Sources

Summaries for Biotinidase Deficiency

About this section
NIH Rare Diseases : 53 Biotinidase deficiency is an inherited disorder in which the body is unable to recycle the vitamin biotin. The disorder may become apparent in the first few months of life, or later in childhood. The more severe form of the disorder is called 'profound biotinidase deficiency' and may cause delayed development, seizures, weak muscle tone (hypotonia), breathing problems, hearing and vision loss, problems with movement and balance (ataxia), skin rashes, hair loss (alopecia), and a fungal infection called candidiasis. The milder form is called 'partial biotinidase deficiency'; without treatment, affected children may experience hypotonia, skin rashes, and hair loss. In some cases, these symptoms only appear during illness, infection, or other times of stress on the body. Biotinidase deficiency is caused by mutations in the BTD gene and is inherited in an autosomal recessive manner. Lifelong treatment with biotin can prevent symptoms and complications from occurring or improve them if they have already developed.

MalaCards based summary : Biotinidase Deficiency, also known as late-onset multiple carboxylase deficiency, is related to holocarboxylase synthetase deficiency and biotin deficiency, and has symptoms including apnea, ataxia and diarrhea. An important gene associated with Biotinidase Deficiency is BTD (Biotinidase), and among its related pathways/superpathways are Biotin metabolism and Vitamin digestion and absorption. The drugs Miconazole and Antifungal Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, cerebellum and testes, and related phenotypes are muscular hypotonia and generalized myoclonic seizures

OMIM : 57 Multiple carboxylase deficiency (MCD) is an autosomal recessive metabolic disorder characterized primarily by cutaneous and neurologic abnormalities. Symptoms result from the patient's inability to reutilize biotin, a necessary nutrient. Sweetman (1981) recognized that multiple carboxylase deficiency could be classified into early (see 253270) and late forms. The early form showed higher urinary excretion of 3-hydroxyisovaleric acid and 3-hydroxypropionic acid than the late form and was associated with normal plasma biotin concentrations. Sweetman (1981) proposed a defect in holocarboxylase synthetase and intestinal biotin absorption, respectively. Some patients with biotinidase deficiency present in infancy (Baumgartner et al., 1985; Kalayci et al., 1994), and some individuals with this deficiency are asymptomatic (Wolf et al., 1997). (253260)

UniProtKB/Swiss-Prot : 75 Biotinidase deficiency: A juvenile form of multiple carboxylase deficiency, an autosomal recessive disorder of biotin metabolism, characterized by ketoacidosis, hyperammonemia, excretion of abnormal organic acid metabolites, and dermatitis. Biotinidase deficiency is characterized by seizures, hypotonia, skin rash, alopecia, ataxia, hearing loss, and optic atrophy. If untreated, symptoms usually become progressively worse, and coma and death may occur.

Genetics Home Reference : 25 Biotinidase deficiency is an inherited disorder in which the body is unable to recycle the vitamin biotin. If this condition is not recognized and treated, its signs and symptoms typically appear within the first few months of life, although it can also become apparent later in childhood.

Disease Ontology : 12 A multiple carboxylase deficiency that involves a deficiency in biotinidase.

Wikipedia : 76 Biotinidase deficiency is an autosomal recessive metabolic disorder in which biotin is not released from... more...

GeneReviews: NBK1322
Sources

Related Diseases for Biotinidase Deficiency

About this section

Diseases related to Biotinidase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 55, show less)
# Related Disease Score Top Affiliating Genes
1 holocarboxylase synthetase deficiency 31.9 BTD HLCS
2 biotin deficiency 30.8 BTD HLCS PCCB
3 multiple carboxylase deficiency 29.9 BTD HLCS MCCC2 PCCB
4 3-methylglutaconic aciduria, type iii 28.9 BTD EIF2B4
5 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
6 carbohydrate metabolic disorder 10.1 BTD HLCS
7 neuropathy 10.0
8 encephalopathy 10.0
9 multiple sclerosis 10.0
10 galactosemia 10.0
11 neuromyelitis optica 10.0
12 optic nerve disease 10.0
13 fatal familial insomnia 9.9
14 bacterial meningitis 9.9
15 meningitis 9.9
16 amino acid metabolic disorder 9.9 BTD PCCB
17 aging 9.9
18 congenital hypothyroidism 9.9
19 hypothyroidism 9.9
20 infantile epileptic encephalopathy 9.9
21 cerebritis 9.9
22 neonatal hypothyroidism 9.9
23 coffin-siris syndrome 1 9.7
24 pancreas, annular 9.7
25 vater/vacterl association 9.7
26 autism 9.7
27 celiac disease 1 9.7
28 leigh syndrome 9.7
29 phenylketonuria 9.7
30 adrenoleukodystrophy 9.7
31 combined immunodeficiency, x-linked 9.7
32 juvenile myelomonocytic leukemia 9.7
33 leukemia 9.7
34 severe combined immunodeficiency 9.7
35 skin disease 9.7
36 basal ganglia calcification 9.7
37 respiratory failure 9.7
38 optic neuritis 9.7
39 vacterl association 9.7
40 candidiasis 9.7
41 neuritis 9.7
42 epilepsy 9.7
43 vaginitis 9.7
44 spinal cord disease 9.7
45 laryngitis 9.7
46 lactic acidosis 9.7
47 myopathy 9.7
48 paraplegia 9.7
49 auditory neuropathy spectrum disorder 9.7
50 neuromyelitis optica spectrum disorder 9.7
51 hypertonia 9.7
52 hypotonia 9.7
53 spasticity 9.7
54 propionic acidemia 9.7 HLCS PCCB
55 organic acidemia 9.5 BTD HLCS PCCB

Graphical network of the top 20 diseases related to Biotinidase Deficiency:



Diseases related to Biotinidase Deficiency
Sources

Symptoms & Phenotypes for Biotinidase Deficiency

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Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
ataxia
lethargy
diffuse cerebellar atrophy
diffuse cerebral atrophy
more
Abdomen Liver:
hepatomegaly

Abdomen Gastrointestinal:
vomiting
feeding difficulties
diarrhea

Respiratory:
apnea
tachypnea
breathing problems

Metabolic Features:
metabolic ketoacidosis
organic aciduria

Laboratory Abnormalities:
organic aciduria (elevated beta-hydroxyisovalerate, lactate, beta-methylcrotonylglycine, beta-hydroxypropionate, methylcitrate)
mild hyperammonemia
biotinidase deficiency

AbdomenSpleen:
splenomegaly

Head And Neck Eyes:
optic atrophy
conjunctivitis
vision loss

Skin Nails Hair Hair:
alopecia

Skin Nails Hair Skin:
seborrheic dermatitis
skin rash
skin infections

Head And Neck Ears:
hearing loss, sensorineural


Clinical features from OMIM:

253260

Human phenotypes related to Biotinidase Deficiency:

59 32 (showing 43, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
2 generalized myoclonic seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0002123
3 metabolic ketoacidosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0005979
4 hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000365
5 optic atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0000648
6 keratoconjunctivitis 59 32 frequent (33%) Frequent (79-30%) HP:0001096
7 ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0001251
8 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
9 alopecia 59 32 frequent (33%) Frequent (79-30%) HP:0001596
10 desquamation of skin soon after birth 59 32 frequent (33%) Frequent (79-30%) HP:0007549
11 perioral eczema 59 32 frequent (33%) Frequent (79-30%) HP:0011127
12 myopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000545
13 visual field defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001123
14 lethargy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001254
15 coma 59 32 occasional (7.5%) Occasional (29-5%) HP:0001259
16 hypertonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001276
17 muscle weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0001324
18 growth delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001510
19 apnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002104
20 recurrent fungal infections 59 32 occasional (7.5%) Occasional (29-5%) HP:0002841
21 hyperventilation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002883
22 laryngeal stridor 59 32 occasional (7.5%) Occasional (29-5%) HP:0006511
23 iris hypopigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0007730
24 abnormality of the cerebellum 59 Occasional (29-5%)
25 sensorineural hearing impairment 32 HP:0000407
26 conjunctivitis 32 HP:0000509
27 visual loss 32 HP:0000572
28 skin rash 32 HP:0000988
29 seborrheic dermatitis 32 HP:0001051
30 seizures 32 HP:0001250
31 generalized hypotonia 32 HP:0001290
32 recurrent skin infections 32 HP:0001581
33 splenomegaly 32 HP:0001744
34 hyperammonemia 32 HP:0001987
35 organic aciduria 32 HP:0001992
36 vomiting 32 HP:0002013
37 diarrhea 32 HP:0002014
38 hepatomegaly 32 HP:0002240
39 diffuse cerebral atrophy 32 HP:0002506
40 tachypnea 32 HP:0002789
41 feeding difficulties in infancy 32 HP:0008872
42 diffuse cerebellar atrophy 32 HP:0100275
43 decreased biotinidase activity 32 HP:0410145

UMLS symptoms related to Biotinidase Deficiency:


apnea, ataxia, diarrhea, exanthema, lethargy, seizures, vomiting, unspecified visual loss
Sources

Drugs & Therapeutics for Biotinidase Deficiency

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Drugs for Biotinidase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 17, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
2 Antifungal Agents Phase 2
3 Anti-Infective Agents Phase 2
4 Antirheumatic Agents Phase 2
5 Calcineurin Inhibitors Phase 2
6 Cyclosporins Phase 2
7 Dermatologic Agents Phase 2
8 Immunosuppressive Agents Phase 2
9
Biotin Approved, Investigational, Nutraceutical Not Applicable 58-85-5 171548
10
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
11 Micronutrients Not Applicable
12 Trace Elements Not Applicable
13 Vitamin B Complex Not Applicable
14 Vitamins Not Applicable
15 Folate Nutraceutical Not Applicable
16 Vitamin B7 Nutraceutical Not Applicable
17 Vitamin B9 Nutraceutical Not Applicable

Interventional clinical trials:

(showing 5, show less)
# Name Status NCT ID Phase Drugs
1 Study of ORL-1B in Patients With Biotinidase Deficiency Completed NCT03269045 Phase 1, Phase 2 ORL-1B
2 Topical Cyclosporine Suspension for the Treatment of Brittle Nails Completed NCT01064830 Phase 2 topical cyclosporine ophthalmic suspension 0.05%;vehicle
3 Biotin Deficiency and Restless Legs Syndrome Completed NCT02011191 Not Applicable
4 Biotin Status in Pregnancy Completed NCT00894920 Not Applicable
5 BIOtinidase Test In Optic-Neuropathy Recruiting NCT03268681

Search NIH Clinical Center for Biotinidase Deficiency

Cochrane evidence based reviews: biotinidase deficiency

Sources

Genetic Tests for Biotinidase Deficiency

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Genetic tests related to Biotinidase Deficiency:

# Genetic test Affiliating Genes
1 Biotinidase Deficiency 29 BTD
Sources

Anatomical Context for Biotinidase Deficiency

About this section

MalaCards organs/tissues related to Biotinidase Deficiency:

41
Skin, Cerebellum, Testes, Spinal Cord, Brain, Eye, Pancreas
Sources

Publications for Biotinidase Deficiency

About this section

Articles related to Biotinidase Deficiency:

(showing 241, show less)
# Title Authors Year
1
Are we missing patients with biotinidase deficiency in France? ( 29778138 )
2018
2
Twenty-seven mutations with three novel pathologenic variants causing biotinidase deficiency: a report of 203 patients from the southeastern part of Turkey. ( 29353266 )
2018
3
Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: A BabySeq Project case report. ( 29728376 )
2018
4
Clinical features, BTD gene mutations, and their functional studies of eight symptomatic patients with biotinidase deficiency from Southern China. ( 29359854 )
2018
5
Multiplex tandem mass spectrometry assay for newborn screening of X-linked adrenoleukodystrophy, biotinidase deficiency, and galactosemia with flexibility to assay other enzyme assays and biomarkers. ( 29680633 )
2018
6
Characterizing the Biotinidase Deficiency in a Child When Considering a Possible Disease Association. ( 28991128 )
2018
7
Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics. ( 28682309 )
2017
8
Corrigendum to "First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children" [Mol. Genet. Metab. Rep. 2 (2016) 81-84]. ( 28653700 )
2017
9
Reply to the letter: Biotinidase deficiency masquerading as multiple sclerosis? ( 28337934 )
2017
10
Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. ( 28498829 )
2017
11
Neonatal screening for biotinidase deficiency: A 30-year single center experience. ( 28971021 )
2017
12
Correction: Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. ( 28640880 )
2017
13
Adult-onset biotinidase deficiency: two individuals with severe, but reversible optic neuropathy. ( 29025919 )
2017
14
Irreversibility of Symptoms with Biotin Therapy in an Adult with Profound Biotinidase Deficiency. ( 28220409 )
2017
15
Biotinidase deficiency masquerading as multiple sclerosis? ( 28337933 )
2017
16
ERRATUM: Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics. ( 29240078 )
2017
17
"Think metabolic" in adults with diagnostic challenges: Biotinidase deficiency as a paradigm disorder. ( 29431165 )
2017
18
Developmental window of sensorineural deafness in biotinidase-deficient mice. ( 28516283 )
2017
19
A treatable cause of myelopathy and vision loss mimicking neuromyelitis optica spectrum disorder: late-onset biotinidase deficiency. ( 28281033 )
2017
20
Comment on: Childhood optic atrophy in biotinidase deficiency. ( 27688290 )
2016
21
A Case of Biotinidase Deficiency in an Adult with Respiratory Failure in the Intensive Care Unit. ( 27761288 )
2016
22
Clinical, Biochemical and Genetic Analysis of Biotinidase Deficiency in Iranian Population. ( 27845546 )
2016
23
First microdeletion involving only the biotinidase gene that can cause biotinidase deficiency: A lesson for clinical practice. ( 27014582 )
2016
24
Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations. ( 27329734 )
2016
25
Forty-eight novel mutations causing biotinidase deficiency. ( 26810761 )
2016
26
Diagnostic Dilemma Of Biotinidase Deficiency: Case Of A Child From Pakistan. ( 28586590 )
2016
27
Auditory Neuropathy/Dyssynchrony in Biotinidase Deficiency. ( 27144235 )
2016
28
Biotinidase deficiency mimicking neuromyelitis optica beginning at the age of 4: A treatable disease. ( 27207447 )
2016
29
Celiac Disease Presenting with Biotinidase Deficiency and Paraplegia. ( 26830281 )
2016
30
Comparison of Spectrophotometric and Fluorimetric Methods in Evaluation of Biotinidase Deficiency. ( 28356871 )
2016
31
Partial biotinidase deficiency: identification of a single novel mutation (p.H314R) in a Greek newborn. ( 26656798 )
2016
32
Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening. ( 27657684 )
2016
33
Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014). ( 26361991 )
2015
34
Biotinidase Deficiency in Newborns as Respiratory Distress and Tachypnea: A Case Report. ( 26221165 )
2015
35
Biotinidase deficiency and our champagne legacy. ( 26456103 )
2015
36
Biotinidase deficiency due to a de novo mutation or gonadal mosaicism in a first child. ( 25795614 )
2015
37
Cost-Effectiveness Analysis of a National Newborn Screening Program for Biotinidase Deficiency. ( 26169436 )
2015
38
Clinical utility gene card for: Biotinidase deficiency-update 2015. ( 26577040 )
2015
39
Biotinidase deficiency should be considered in individuals exhibiting myelopathy with or without and vision loss. ( 26358973 )
2015
40
Why screen newborns for profound and partial biotinidase deficiency? ( 25638506 )
2015
41
Biotinidase deficiency mimicking primary immune deficiencies. ( 25956498 )
2015
42
Brainstem and spinal cord lesions associated with skin changes and hearing loss: think of biotinidase deficiency. ( 25556014 )
2015
43
Biotinidase deficiency mimicking neuromyelitis optica: Initially exhibiting symptoms in adulthood. ( 26203071 )
2015
44
Novel imaging findings in two cases of biotinidase deficiency-a treatable metabolic disorder. ( 26037171 )
2015
45
High Incidence of Biotinidase Deficiency from a Pilot Newborn Screening Study in Minas Gerais, Brazil. ( 25967232 )
2015
46
Mutations in BTD gene causing biotinidase deficiency: a regional report. ( 25423671 )
2015
47
Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients. ( 25174816 )
2014
48
Newborn screening for congenital hypothyroidism, galactosemia and biotinidase deficiency in Uttar Pradesh, India. ( 25228601 )
2014
49
Biotinidase deficiency: Novel mutations in Algerian patients. ( 23481307 )
2014
50
Management of anesthesia in biotinidase deficiency. ( 24574621 )
2014
51
Optic neuropathy due to biotinidase deficiency in a 19-year-old man. ( 24525934 )
2014
52
Outcomes of individuals with profound and partial biotinidase deficiency ascertained by newborn screening in Michigan over 25 years. ( 25144890 )
2014
53
Novel mutations causing biotinidase deficiency in individuals identified by newborn screening in Michigan including an unique intronic mutation that alters mRNA expression of the biotinidase gene. ( 24797656 )
2014
54
Abnormal cerebrospinal fluid biochemistry in biotinidase deficiency causing diagnostic conundrum. ( 23220796 )
2014
55
Characterization and functional analysis of cellular immunity in mice with biotinidase deficiency. ( 24630269 )
2014
56
Biotinidase deficiency in childhood. ( 24005734 )
2013
57
Biotinidase deficiency: an atypical presentation. ( 24066991 )
2013
58
Diagnosis, treatment and follow-up in four children with biotinidase deficiency from Pakistan. ( 24169397 )
2013
59
Biotinidase deficiency: a reversible neurometabolic disorder (an Iranian pediatric case series). ( 24665318 )
2013
60
Novel application of digital microfluidics for the detection of biotinidase deficiency in newborns. ( 24036022 )
2013
61
Hair-shaft abnormality in a 7-year-old girl. Trichorrhexis nodosa dueto biotinidase deficiency. ( 23552716 )
2013
62
High incidence of partial biotinidase deficiency cases in newborns of Greek origin. ( 23644139 )
2013
63
Epilepsy in biotinidase deficiency after biotin treatment. ( 23430899 )
2012
64
Optic neuritis in a child with biotinidase deficiency: case report and literature review. ( 22457589 )
2012
65
Increased incidence of profound biotinidase deficiency among Hispanic newborns in California. ( 22698809 )
2012
66
Biotinidase deficiency in Pakistani children; what needs to be known and done. ( 22755269 )
2012
67
Neurological deficits in mice with profound biotinidase deficiency are associated with demylination and axonal degeneration. ( 22579707 )
2012
68
VACTERL association: a new case with biotinidase deficiency and annular pancreas. ( 22010814 )
2012
69
Clinical utility gene card for: biotinidase deficiency. ( 22378278 )
2012
70
Biotinidase deficiency: "if you have to have an inherited metabolic disease, this is the one to have". ( 22241090 )
2012
71
Hemophagocytic syndrome in a 4-month-old infant with biotinidase deficiency. ( 22605457 )
2012
72
Biotinidase deficiency--clinching the diagnosis rapidly can make all the difference! ( 22679321 )
2011
73
The neurology of biotinidase deficiency. ( 21696988 )
2011
74
Biotinidase deficiency presenting as recurrent myelopathy in a 7-year-old boy and a review of the literature. ( 21907891 )
2011
75
Ohtahara syndrome with biotinidase deficiency. ( 21115748 )
2011
76
[Clinical and genetic findings in patients with biotinidase deficiency detected through newborn screening or selective screening for hearing loss or inherited metabolic disease]. ( 21752405 )
2011
77
Mutational analysis for biotinidase deficiency of a Greek patients' cohort ascertained through expanded newborn screening. ( 22011816 )
2011
78
Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder. ( 21051254 )
2011
79
A girl with spastic tetraparesis associated with biotinidase deficiency. ( 21571559 )
2011
80
Peculiar neuroimaging and electrophysiological findings in a patient with biotinidase deficiency. ( 21123088 )
2011
81
Two unusual clinical and radiological presentations of biotinidase deficiency. ( 20153672 )
2010
82
[Epileptic encephalopathy due to partial biotinidase deficiency]. ( 20171151 )
2010
83
Analysis of mutations causing biotinidase deficiency. ( 20556795 )
2010
84
Profound biotinidase deficiency: a rare disease among native Swedes. ( 20224900 )
2010
85
Biotinidase deficiency: A treatable cause of infantile seizures. ( 21042519 )
2010
86
[The importance of a law on time: presentation of a girl with biotinidase deficiency who was not picked up through the neonatal screening]. ( 20204226 )
2010
87
Biotin responsive seizures and encephalopathy due to biotinidase deficiency. ( 20508364 )
2010
88
Technical standards and guidelines for the diagnosis of biotinidase deficiency. ( 20539236 )
2010
89
Clinical issues and frequent questions about biotinidase deficiency. ( 20129807 )
2010
90
Brain diffusion-weighted and diffusion tensor imaging findings in an infant with biotinidase deficiency. ( 19509076 )
2009
91
High incidence of profound biotinidase deficiency detected in newborn screening blood spots in the Somalian population in Minnesota. ( 19757147 )
2009
92
Biotinidase deficiency with hypertonia as unusual feature. ( 19179722 )
2009
93
Diagnosis, treatment, follow-up and gene mutation analysis in four Chinese children with biotinidase deficiency. ( 19728141 )
2009
94
Biotinidase deficiency: a reversible metabolic encephalopathy. Neuroimaging and MR spectroscopic findings in a series of four patients. ( 18545994 )
2008
95
Profound biotinidase deficiency in a child with predominantly spinal cord disease. ( 18645204 )
2008
96
Biotinidase deficiency. ( 18820388 )
2008
97
Biotinidase deficiency and juvenile myelomonocytic leukemia in a Turkish infant of consanguineous parents. ( 17710663 )
2007
98
Spinal cord demyelination associated with biotinidase deficiency in 3 Chinese patients. ( 17621476 )
2007
99
Hearing loss in biotinidase deficiency: genotype-phenotype correlation. ( 17382128 )
2007
100
Long-term follow-up of hearing loss in biotinidase deficiency. ( 17761663 )
2007
101
Audiologic findings in children with biotinidase deficiency in Turkey. ( 17161472 )
2007
102
Mutations causing biotinidase deficiency in children ascertained by newborn screening in Western Hungary. ( 17185019 )
2007
103
Novel mutation causing partial biotinidase deficiency in a Syrian boy with infantile spasms and retardation. ( 17092467 )
2006
104
Qualitative colorimetric ultramicroassay for the detection of biotinidase deficiency in newborns. ( 16480705 )
2006
105
Successful pregnancy in a treated patient with biotinidase deficiency. ( 16151912 )
2005
106
Biotinidase deficiency: novel mutations and their biochemical and clinical correlates. ( 15776412 )
2005
107
Biotinidase: its role in biotinidase deficiency and biotin metabolism. ( 15992688 )
2005
108
Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency. ( 15877202 )
2005
109
Asymptomatic adults and older siblings with biotinidase deficiency ascertained by family studies of index cases. ( 16435182 )
2005
110
Biotinidase deficiency: the importance of adequate follow-up for an inconclusive newborn screening result. ( 15711955 )
2005
111
Emergency department presentation of biotinidase deficiency: fulminant sepsis in a 4-year-old Hispanic male. ( 14716165 )
2004
112
Outcome in patients with profound biotinidase deficiency: relevance of newborn screening. ( 15230462 )
2004
113
Biotinidase deficiency: a treatable leukoencephalopathy. ( 15328559 )
2004
114
Newborn screening for biotinidase deficiency in Brazil: biochemical and molecular characterizations. ( 15060693 )
2004
115
[Optic neuropathy in biotinidase deficiency]. ( 15306966 )
2004
116
Biotinidase deficiency-Diagnosis by enzyme assay and a follow-up study. ( 23105388 )
2003
117
Real time PCR assays to detect common mutations in the biotinidase gene and application of mutational analysis to newborn screening for biotinidase deficiency. ( 12618081 )
2003
118
Biotinidase Deficiency: New Directions and Practical Concerns. ( 12791199 )
2003
119
A case of partial biotinidase deficiency associated with autism. ( 13680408 )
2003
120
Molecular characterisation and neuropsychological outcome of 21 patients with profound biotinidase deficiency detected by newborn screening and family studies. ( 14628140 )
2003
121
[Diagnosis and treatment of biotinidase deficiency-clinical study of six patients]. ( 14754524 )
2003
122
Biotinidase deficiency: clinical and MRI findings consistent with myelopathy. ( 13679123 )
2003
123
Neonatal screening for biotinidase deficiency in Hungary: clinical, biochemical and molecular studies. ( 14707518 )
2003
124
[Screening for congenital hypothyroidism, phenylketonuria, galactosemia and biotinidase deficiency in a sample of mentally retarded patients in the city of Havana]. ( 12766862 )
2003
125
Children with profound biotinidase deficiency should be treated with biotin regardless of their residual enzyme activity or genotype. ( 11998918 )
2002
126
Localization of biotinidase in the brain: implications for its role in hearing loss in biotinidase deficiency. ( 12372635 )
2002
127
Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency. ( 11865279 )
2002
128
Seventeen novel mutations that cause profound biotinidase deficiency. ( 12359137 )
2002
129
[Biotinidase deficiency--a case report]. ( 12608316 )
2002
130
Complete biotinidase deficiency presenting as reversible progressive ataxia and sensorineural deafness. ( 11952077 )
2002
131
Two new mutations in children affected by partial biotinidase deficiency ascertained by newborn screening. ( 12227467 )
2002
132
[Biotinidase deficiency and eye]. ( 12608322 )
2002
133
Mutations in BTD causing biotinidase deficiency. ( 11668630 )
2001
134
Molecular characterisation of 34 patients with biotinidase deficiency ascertained by newborn screening and family investigation. ( 11313766 )
2001
135
Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria. ( 11388594 )
2001
136
Novel mutations in children with profound biotinidase deficiency from Saudi Arabia. ( 10801060 )
2000
137
Cutaneous and neurologic manifestations of biotinidase deficiency. ( 10849128 )
2000
138
Biotinidase deficiency--a treatable entity. ( 10932969 )
2000
139
Novel mutations cause biotinidase deficiency in Turkish children. ( 10801053 )
2000
140
Reversible deafness caused by biotinidase deficiency. ( 11033293 )
2000
141
Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children. ( 10400129 )
1999
142
Biotinidase deficiency: a treatable genetic disorder in the Saudi population. ( 11924114 )
1999
143
Chronic vaginal candidiasis responsive to biotin therapy in a carrier of biotinidase deficiency. ( 9764646 )
1998
144
Double mutation (A171T and D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States. ( 10206677 )
1998
145
[Prevalence study of biotinidase deficiency in newborns]. ( 9713119 )
1998
146
Mutation in a putative glycosylation site (N489T) of biotinidase in the only known Japanese child with biotinidase deficiency. ( 9705240 )
1998
147
Delayed-onset profound biotinidase deficiency. ( 9506660 )
1998
148
Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene. ( 9654207 )
1998
149
Incidence of biotinidase deficiency in Turkish newborns. ( 9825985 )
1998
150
Prenatal diagnosis of heterozygosity for biotinidase deficiency by enzymatic and molecular analyses. ( 9516011 )
1998
151
Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children: molecular, biochemical, and clinical analysis. ( 9396567 )
1997
152
Biotinidase deficiency: result of treatment with biotin from age 12 years. ( 10728214 )
1997
153
Late presentation of biotinidase deficiency with acute visual loss and gait disturbance. ( 9433860 )
1997
154
Profound biotinidase deficiency in two asymptomatic adults. ( 9375914 )
1997
155
Biotinidase deficiency: two cases of very early presentation. ( 9433861 )
1997
156
Profound biotinidase deficiency caused by a point mutation that creates a downstream cryptic 3' splice acceptor site within an exon of the human biotinidase gene. ( 9158148 )
1997
157
Arg538 to Cys mutation in a CpG dinucleotide of the human biotinidase gene is the second most common cause of profound biotinidase deficiency in symptomatic children. ( 9099842 )
1997
158
Biotinidase deficiency with neurological features resembling multiple sclerosis. ( 9323568 )
1997
159
Cerebral metabolic changes in biotinidase deficiency. ( 9427142 )
1997
160
Mutation (Q456H) is the most common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States. ( 9232193 )
1997
161
Deletion/insertion mutation that causes biotinidase deficiency may result from the formation of a quasipalindromic structure. ( 8894703 )
1996
162
Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency. ( 7550325 )
1995
163
Biotinylation of histones by human serum biotinidase: assessment of biotinyl-transferase activity in sera from normal individuals and children with biotinidase deficiency. ( 8593541 )
1995
164
Reversible metabolic myopathy in biotinidase deficiency: its possible role in causing hypotonia. ( 8750607 )
1995
165
Biotinidase deficiency: early neurological presentation. ( 8138076 )
1994
166
Normalisation of severe cranial CT scan abnormalities after biotin in a case of biotinidase deficiency. ( 7843204 )
1994
167
Screening for biotinidase deficiency in some skin diseases. ( 7761790 )
1994
168
First trimester prenatal exclusion of biotinidase deficiency. ( 7707701 )
1994
169
Infantile spasms as the initial symptom of biotinidase deficiency. ( 8283357 )
1994
170
Biotinidase deficiency in Scotland. ( 8050627 )
1994
171
[Biotinidase deficiency. Progressive encephalopathy curable with biotin]. ( 8053766 )
1993
172
Cerebral metabolic change after treatment in biotinidase deficiency. ( 8412000 )
1993
173
Biotinidase Deficiency ( 20301497 )
1993
174
Reversal of brain atrophy with biotin treatment in biotinidase deficiency. ( 8232780 )
1993
175
Deteriorating neurological and neuroradiological course in treated biotinidase deficiency. ( 8327062 )
1993
176
Characterization of seizures associated with biotinidase deficiency. ( 8327137 )
1993
177
Cerebrospinal fluid organic acids in biotinidase deficiency. ( 7609439 )
1993
178
Ophthalmologic findings in biotinidase deficiency. ( 8278163 )
1993
179
Biochemical and immunologic characterization of serum biotinidase in partial biotinidase deficiency. ( 1561012 )
1992
180
Neuropathology of biotinidase deficiency. ( 1441928 )
1992
181
Biochemical and immunological characterization of serum biotinidase in profound biotinidase deficiency. ( 1729884 )
1992
182
Neonatal screening for biotinidase deficiency. ( 1503382 )
1992
183
Lipoamidase and biotinidase deficiency: evidence that lipoamidase and biotinidase are the same enzyme in human serum. ( 1599976 )
1992
184
Biotinidase deficiency: a rare cause of laryngeal stridor. ( 1592565 )
1992
185
Comparison of profound biotinidase deficiency in children ascertained clinically and by newborn screening using a simple method of accurately determining residual biotinidase activity. ( 1524870 )
1992
186
Statistical approaches for the detection of heterozygotes for biotinidase deficiency. ( 1877614 )
1991
187
Screening for biotinidase deficiency in children with unexplained neurologic or developmental abnormalities. ( 1706649 )
1991
188
Rat as a potential model for hearing loss in biotinidase deficiency. ( 2018287 )
1991
189
Worldwide survey of neonatal screening for biotinidase deficiency. ( 1779651 )
1991
190
[Biotinidase deficiency. Results of neonatal screening 1985-1989 in Lower Saxony]. ( 1896047 )
1991
191
Biotinidase deficiency. ( 1927696 )
1991
192
Neonatal screening for biotinidase deficiency in east-Hungary. ( 1779652 )
1991
193
Partial biotinidase deficiency: clinical and biochemical features. ( 2295967 )
1990
194
Screening for biotinidase deficiency in newborns: worldwide experience. ( 2314964 )
1990
195
Comparison of patients with complete and partial biotinidase deficiency: biochemical studies. ( 2109151 )
1990
196
Partial biotinidase deficiency associated with Coffin-Siris syndrome. ( 2373113 )
1990
197
Biotinidase deficiency in black children. ( 2329428 )
1990
198
[Biotinidase deficiency--a progressive metabolic disease in children with seizures and ataxia]. ( 2356250 )
1990
199
Neonatal screening for biotinidase deficiency. A pilot study in Scotland. ( 2515386 )
1989
200
Requirement of high biotin doses in a case of biotinidase deficiency. ( 2515382 )
1989
201
Prospective ascertainment of complete and partial serum biotinidase deficiency in the newborn. ( 2502673 )
1989
202
Biotinidase deficiency associated with severe combined immunodeficiency. ( 2568564 )
1989
203
Biotinidase deficiency: a cause of subacute necrotizing encephalomyelopathy (Leigh syndrome). Report of a case with lethal outcome. ( 2587127 )
1989
204
Quantitative determination of biocytin in urine of patients with biotinidase deficiency using high-performance liquid chromatography (HPLC). ( 3148376 )
1988
205
Neonatal screening for biotinidase deficiency in north eastern Italy. ( 3391228 )
1988
206
Basal ganglia calcifications in a case of biotinidase deficiency. ( 3399084 )
1988
207
"Cerebral" lactic acidosis and biotinidase deficiency. ( 3234447 )
1988
208
Simon has biotinidase deficiency. ( 3195302 )
1988
209
Biotinidase deficiency: a survey of 10 cases. ( 3196050 )
1988
210
A qualitative assessment of biotinidase deficiency. ( 3500673 )
1987
211
Sudden death associated with biotinidase deficiency. ( 3822661 )
1987
212
A simple method for quantification of biotinidase activity in dried blood spot and its application to screening of biotinidase deficiency. ( 3660404 )
1987
213
Ocular aspects in biotinidase deficiency. Clinical and genetic original studies. ( 3658339 )
1987
214
Neonatal screening for biotinidase deficiency: results of a 1-year pilot study. ( 3944695 )
1986
215
Screening for biotinidase deficiency. ( 3702961 )
1986
216
Biotinidase deficiency: metabolites in CSF. ( 3099073 )
1986
217
A new solid-phase assay for biotin and biocytin and its application to the study of patients with biotinidase deficiency. ( 3095002 )
1986
218
Neurological deterioration and lactic acidemia in biotinidase deficiency. A treatable condition mimicking Leigh's disease. ( 3762868 )
1986
219
Biotinidase deficiency: a novel vitamin recycling defect. ( 3930841 )
1985
220
Biotinidase deficiency associated with renal loss of biocytin and biotin. ( 3925858 )
1985
221
Biotinidase deficiency: presymptomatic treatment. ( 4015175 )
1985
222
Neurologic symptoms of biotinidase deficiency: possible explanation. ( 4033935 )
1985
223
Intestinal absorption and renal excretion of biotin in patients with biotinidase deficiency. ( 3926500 )
1985
224
Biotin-responsive 3-methylcrotonylglycinuria with biotinidase deficiency. ( 3930850 )
1985
225
Biotinidase deficiency: initial clinical features and rapid diagnosis. ( 4073853 )
1985
226
Clinical findings in four children with biotinidase deficiency detected through a statewide neonatal screening program. ( 4000223 )
1985
227
Long-term auditory and visual complications of biotinidase deficiency. ( 4054050 )
1985
228
Biotinidase deficiency. ( 3925856 )
1985
229
Biotinidase deficiency: factors responsible for the increased biotin requirement. ( 3930842 )
1985
230
Detection of biocytin in urine of children with congenital biotinidase deficiency. ( 6438010 )
1984
231
Biotinidase deficiency: clinical course and biochemical findings. ( 6438396 )
1984
232
Biotinidase deficiency: the possible role of biotinidase in the processing of dietary protein-bound biotin. ( 6434861 )
1984
233
Phenotypic variability in biotinidase deficiency. ( 6726540 )
1984
234
A screening method for biotinidase deficiency in newborns. ( 6690118 )
1984
235
Different organic acid patterns in urine and in cerebrospinal fluid in a patient with biotinidase deficiency. ( 6434860 )
1984
236
Potential for prenatal diagnosis of biotinidase deficiency. ( 6483793 )
1984
237
Biotinidase deficiency in juvenile multiple carboxylase deficiency. ( 6135890 )
1983
238
Hearing loss in biotinidase deficiency. ( 6139700 )
1983
239
Biotinidase deficiency and the eye and ear. ( 6137736 )
1983
240
Phenotypic variation in biotinidase deficiency. ( 6875714 )
1983
241
Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency. ( 6883721 )
1983
Sources

Variations for Biotinidase Deficiency

About this section

UniProtKB/Swiss-Prot genetic disease variations for Biotinidase Deficiency:

75 (showing 9, show less)
# Symbol AA change Variation ID SNP ID
1 BTD p.Phe128Val VAR_005113 rs397514355
2 BTD p.Ala171Thr VAR_005114 rs13073139
3 BTD p.Asp228Tyr VAR_005115 rs397514380
4 BTD p.His323Arg VAR_005116 rs397507176
5 BTD p.Asp444His VAR_005117 rs13078881
6 BTD p.Gly451Asp VAR_005118 rs397514419
7 BTD p.Gln456His VAR_005119 rs80338685
8 BTD p.Thr532Met VAR_005120 rs104893688
9 BTD p.Arg538Cys VAR_005121 rs80338686

ClinVar genetic disease variations for Biotinidase Deficiency:

6
(showing 364, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 BTD NM_000060.4(BTD): c.98_104delGCGGCTGinsTCC (p.Cys33Phefs) indel Pathogenic rs80338684 GRCh37 Chromosome 3, 15676984: 15676990
2 BTD NM_000060.4(BTD): c.98_104delGCGGCTGinsTCC (p.Cys33Phefs) indel Pathogenic rs80338684 GRCh38 Chromosome 3, 15635477: 15635483
3 BTD BTD, 15-BP DEL/11-BP INS indel Pathogenic
4 BTD NM_000060.4(BTD): c.1595C> T (p.Thr532Met) single nucleotide variant Pathogenic rs104893688 GRCh37 Chromosome 3, 15686958: 15686958
5 BTD NM_000060.4(BTD): c.1595C> T (p.Thr532Met) single nucleotide variant Pathogenic rs104893688 GRCh38 Chromosome 3, 15645451: 15645451
6 BTD NM_000060.4(BTD): c.1612C> T (p.Arg538Cys) single nucleotide variant Pathogenic rs80338686 GRCh37 Chromosome 3, 15686975: 15686975
7 BTD NM_000060.4(BTD): c.1612C> T (p.Arg538Cys) single nucleotide variant Pathogenic rs80338686 GRCh38 Chromosome 3, 15645468: 15645468
8 BTD NM_000060.4(BTD): c.100G> A (p.Gly34Ser) single nucleotide variant Pathogenic rs119103232 GRCh37 Chromosome 3, 15676986: 15676986
9 BTD NM_000060.4(BTD): c.100G> A (p.Gly34Ser) single nucleotide variant Pathogenic rs119103232 GRCh38 Chromosome 3, 15635479: 15635479
10 BTD NM_001281724.2(BTD): c.1336G> C (p.Asp446His) single nucleotide variant Pathogenic/Likely pathogenic rs13078881 GRCh37 Chromosome 3, 15686693: 15686693
11 BTD NM_001281724.2(BTD): c.1336G> C (p.Asp446His) single nucleotide variant Pathogenic/Likely pathogenic rs13078881 GRCh38 Chromosome 3, 15645186: 15645186
12 BTD NM_000060.4(BTD): c.755A> G (p.Asp252Gly) single nucleotide variant Pathogenic rs28934601 GRCh37 Chromosome 3, 15686118: 15686118
13 BTD NM_000060.4(BTD): c.755A> G (p.Asp252Gly) single nucleotide variant Pathogenic rs28934601 GRCh38 Chromosome 3, 15644611: 15644611
14 BTD NM_000060.4(BTD): c.1368A> C (p.Gln456His) single nucleotide variant Pathogenic rs80338685 GRCh37 Chromosome 3, 15686731: 15686731
15 BTD NM_000060.4(BTD): c.1368A> C (p.Gln456His) single nucleotide variant Pathogenic rs80338685 GRCh38 Chromosome 3, 15645224: 15645224
16 BTD NM_000060.4(BTD): c.1207T> G (p.Phe403Val) single nucleotide variant Pathogenic rs104893686 GRCh37 Chromosome 3, 15686570: 15686570
17 BTD NM_000060.4(BTD): c.1207T> G (p.Phe403Val) single nucleotide variant Pathogenic rs104893686 GRCh38 Chromosome 3, 15645063: 15645063
18 BTD NM_000060.4(BTD): c.235C> T (p.Arg79Cys) single nucleotide variant Pathogenic rs104893687 GRCh37 Chromosome 3, 15677121: 15677121
19 BTD NM_000060.4(BTD): c.235C> T (p.Arg79Cys) single nucleotide variant Pathogenic rs104893687 GRCh38 Chromosome 3, 15635614: 15635614
20 BTD NM_000060.4(BTD): c.1157G> A (p.Trp386Ter) single nucleotide variant Pathogenic rs397514401 GRCh37 Chromosome 3, 15686520: 15686520
21 BTD NM_000060.4(BTD): c.1157G> A (p.Trp386Ter) single nucleotide variant Pathogenic rs397514401 GRCh38 Chromosome 3, 15645013: 15645013
22 BTD NM_000060.4(BTD): c.341G> T (p.Gly114Val) single nucleotide variant Pathogenic rs375712490 GRCh37 Chromosome 3, 15683446: 15683446
23 BTD NM_000060.4(BTD): c.334G> A (p.Glu112Lys) single nucleotide variant Pathogenic rs397514352 GRCh38 Chromosome 3, 15641932: 15641932
24 BTD NM_000060.4(BTD): c.341G> T (p.Gly114Val) single nucleotide variant Pathogenic rs375712490 GRCh38 Chromosome 3, 15641939: 15641939
25 BTD NM_000060.4(BTD): c.334G> A (p.Glu112Lys) single nucleotide variant Pathogenic rs397514352 GRCh37 Chromosome 3, 15683439: 15683439
26 BTD NM_000060.4(BTD): c.356A> G (p.Asn119Ser) single nucleotide variant Pathogenic rs397514353 GRCh37 Chromosome 3, 15683461: 15683461
27 BTD NM_000060.4(BTD): c.1271G> C (p.Cys424Ser) single nucleotide variant Pathogenic rs397514335 GRCh37 Chromosome 3, 15686634: 15686634
28 BTD NM_000060.4(BTD): c.1271G> C (p.Cys424Ser) single nucleotide variant Pathogenic rs397514335 GRCh38 Chromosome 3, 15645127: 15645127
29 BTD NM_000060.4(BTD): c.136G> T (p.Glu46Ter) single nucleotide variant Pathogenic rs397514336 GRCh37 Chromosome 3, 15677022: 15677022
30 BTD NM_000060.4(BTD): c.136G> T (p.Glu46Ter) single nucleotide variant Pathogenic rs397514336 GRCh38 Chromosome 3, 15635515: 15635515
31 BTD NM_000060.4(BTD): c.171T> G (p.Tyr57Ter) single nucleotide variant Pathogenic rs397514339 GRCh37 Chromosome 3, 15677057: 15677057
32 BTD NM_000060.4(BTD): c.171T> G (p.Tyr57Ter) single nucleotide variant Pathogenic rs397514339 GRCh38 Chromosome 3, 15635550: 15635550
33 BTD NM_000060.4(BTD): c.184G> T (p.Val62Leu) single nucleotide variant Pathogenic rs397507170 GRCh37 Chromosome 3, 15677070: 15677070
34 BTD NM_000060.4(BTD): c.184G> T (p.Val62Leu) single nucleotide variant Pathogenic rs397507170 GRCh38 Chromosome 3, 15635563: 15635563
35 BTD NM_000060.4(BTD): c.190G> A (p.Glu64Lys) single nucleotide variant Pathogenic rs397514340 GRCh37 Chromosome 3, 15677076: 15677076
36 BTD NM_000060.4(BTD): c.190G> A (p.Glu64Lys) single nucleotide variant Pathogenic rs397514340 GRCh38 Chromosome 3, 15635569: 15635569
37 BTD H65fs insertion Pathogenic
38 BTD NM_000060.4(BTD): c.194A> G (p.His65Arg) single nucleotide variant Pathogenic rs397514341 GRCh37 Chromosome 3, 15677080: 15677080
39 BTD NM_000060.4(BTD): c.194A> G (p.His65Arg) single nucleotide variant Pathogenic rs397514341 GRCh38 Chromosome 3, 15635573: 15635573
40 BTD NM_000060.4(BTD): c.245C> T (p.Ala82Val) single nucleotide variant Pathogenic rs397507171 GRCh37 Chromosome 3, 15677131: 15677131
41 BTD NM_000060.4(BTD): c.245C> T (p.Ala82Val) single nucleotide variant Pathogenic rs397507171 GRCh38 Chromosome 3, 15635624: 15635624
42 BTD NM_000060.4(BTD): c.246_254delCTTGGAGCT (p.Leu83_Leu85del) deletion Pathogenic rs397514346 GRCh37 Chromosome 3, 15677132: 15677140
43 BTD NM_000060.4(BTD): c.246_254delCTTGGAGCT (p.Leu83_Leu85del) deletion Pathogenic rs397514346 GRCh38 Chromosome 3, 15635625: 15635633
44 BTD NM_000060.4(BTD): c.248T> C (p.Leu83Ser) single nucleotide variant Pathogenic rs397514347 GRCh37 Chromosome 3, 15677134: 15677134
45 BTD NM_000060.4(BTD): c.248T> C (p.Leu83Ser) single nucleotide variant Pathogenic rs397514347 GRCh38 Chromosome 3, 15635627: 15635627
46 BTD NM_000060.4(BTD): c.262C> T (p.Gln88Ter) single nucleotide variant Pathogenic rs151071780 GRCh37 Chromosome 3, 15677148: 15677148
47 BTD NM_000060.4(BTD): c.262C> T (p.Gln88Ter) single nucleotide variant Pathogenic rs151071780 GRCh38 Chromosome 3, 15635641: 15635641
48 BTD NM_000060.4(BTD): c.278A> G (p.Tyr93Cys) single nucleotide variant Pathogenic rs397514348 GRCh37 Chromosome 3, 15677164: 15677164
49 BTD NM_000060.4(BTD): c.278A> G (p.Tyr93Cys) single nucleotide variant Pathogenic rs397514348 GRCh38 Chromosome 3, 15635657: 15635657
50 BTD NM_000060.4(BTD): c.298G> A (p.Ala100Thr) single nucleotide variant Pathogenic rs397514350 GRCh37 Chromosome 3, 15677184: 15677184
51 BTD NM_000060.4(BTD): c.298G> A (p.Ala100Thr) single nucleotide variant Pathogenic rs397514350 GRCh38 Chromosome 3, 15635677: 15635677
52 BTD NM_000060.4(BTD): c.310G> T (p.Asp104Tyr) single nucleotide variant Pathogenic rs397514351 GRCh37 Chromosome 3, 15683415: 15683415
53 BTD NM_000060.4(BTD): c.310G> T (p.Asp104Tyr) single nucleotide variant Pathogenic rs397514351 GRCh38 Chromosome 3, 15641908: 15641908
54 BTD NM_000060.4(BTD): c.334G> C (p.Glu112Gln) single nucleotide variant Pathogenic rs397514352 GRCh37 Chromosome 3, 15683439: 15683439
55 BTD NM_000060.4(BTD): c.334G> C (p.Glu112Gln) single nucleotide variant Pathogenic rs397514352 GRCh38 Chromosome 3, 15641932: 15641932
56 BTD NM_000060.4(BTD): c.356A> G (p.Asn119Ser) single nucleotide variant Pathogenic rs397514353 GRCh38 Chromosome 3, 15641954: 15641954
57 BTD NM_000060.4(BTD): c.364A> G (p.Arg122Gly) single nucleotide variant Pathogenic rs397514354 GRCh37 Chromosome 3, 15683469: 15683469
58 BTD NM_000060.4(BTD): c.364A> G (p.Arg122Gly) single nucleotide variant Pathogenic rs397514354 GRCh38 Chromosome 3, 15641962: 15641962
59 BTD NM_000060.4(BTD): c.382T> G (p.Phe128Val) single nucleotide variant Pathogenic rs397514355 GRCh37 Chromosome 3, 15683487: 15683487
60 BTD NM_000060.4(BTD): c.382T> G (p.Phe128Val) single nucleotide variant Pathogenic rs397514355 GRCh38 Chromosome 3, 15641980: 15641980
61 BTD NM_000060.4(BTD): c.393delC (p.Phe131Leufs) deletion Pathogenic rs397514356 GRCh37 Chromosome 3, 15683498: 15683498
62 BTD NM_000060.4(BTD): c.393delC (p.Phe131Leufs) deletion Pathogenic rs397514356 GRCh38 Chromosome 3, 15641991: 15641991
63 BTD NM_000060.4(BTD): c.424C> A (p.Pro142Thr) single nucleotide variant Likely pathogenic rs397514357 GRCh37 Chromosome 3, 15683529: 15683529
64 BTD NM_000060.4(BTD): c.424C> A (p.Pro142Thr) single nucleotide variant Likely pathogenic rs397514357 GRCh38 Chromosome 3, 15642022: 15642022
65 BTD NM_000060.4(BTD): c.443G> A (p.Arg148His) single nucleotide variant Likely pathogenic rs367902696 GRCh37 Chromosome 3, 15683548: 15683548
66 BTD NM_000060.4(BTD): c.443G> A (p.Arg148His) single nucleotide variant Likely pathogenic rs367902696 GRCh38 Chromosome 3, 15642041: 15642041
67 BTD NM_000060.4(BTD): c.445T> C (p.Phe149Leu) single nucleotide variant Pathogenic rs397514359 GRCh37 Chromosome 3, 15683550: 15683550
68 BTD NM_000060.4(BTD): c.445T> C (p.Phe149Leu) single nucleotide variant Pathogenic rs397514359 GRCh38 Chromosome 3, 15642043: 15642043
69 BTD NM_000060.4(BTD): c.454A> C (p.Thr152Pro) single nucleotide variant Pathogenic rs374681173 GRCh37 Chromosome 3, 15683559: 15683559
70 BTD NM_000060.4(BTD): c.454A> C (p.Thr152Pro) single nucleotide variant Pathogenic rs374681173 GRCh38 Chromosome 3, 15642052: 15642052
71 BTD NM_000060.4(BTD): c.459G> A (p.Glu153Glu=) single nucleotide variant Pathogenic/Likely pathogenic rs397514360 GRCh37 Chromosome 3, 15683564: 15683564
72 BTD NM_000060.4(BTD): c.459G> A (p.Glu153Glu=) single nucleotide variant Pathogenic/Likely pathogenic rs397514360 GRCh38 Chromosome 3, 15642057: 15642057
73 BTD NM_000060.4(BTD): c.466C> T (p.Gln156Ter) single nucleotide variant Pathogenic rs397514362 GRCh37 Chromosome 3, 15685829: 15685829
74 BTD NM_000060.4(BTD): c.466C> T (p.Gln156Ter) single nucleotide variant Pathogenic rs397514362 GRCh38 Chromosome 3, 15644322: 15644322
75 BTD NM_000060.4(BTD): c.469C> T (p.Arg157Cys) single nucleotide variant Likely pathogenic rs397514363 GRCh37 Chromosome 3, 15685832: 15685832
76 BTD NM_000060.4(BTD): c.469C> T (p.Arg157Cys) single nucleotide variant Likely pathogenic rs397514363 GRCh38 Chromosome 3, 15644325: 15644325
77 BTD NM_000060.4(BTD): c.485C> T (p.Ala162Val) single nucleotide variant Pathogenic rs397514364 GRCh37 Chromosome 3, 15685848: 15685848
78 BTD NM_000060.4(BTD): c.485C> T (p.Ala162Val) single nucleotide variant Pathogenic rs397514364 GRCh38 Chromosome 3, 15644341: 15644341
79 BTD NM_000060.4(BTD): c.490_491delAG (p.Arg164Glyfs) deletion Pathogenic rs397514365 GRCh37 Chromosome 3, 15685853: 15685854
80 BTD NM_000060.4(BTD): c.490_491delAG (p.Arg164Glyfs) deletion Pathogenic rs397514365 GRCh38 Chromosome 3, 15644346: 15644347
81 BTD NM_000060.4(BTD): c.515A> G (p.Asn172Ser) single nucleotide variant Pathogenic rs397514366 GRCh37 Chromosome 3, 15685878: 15685878
82 BTD NM_000060.4(BTD): c.515A> G (p.Asn172Ser) single nucleotide variant Pathogenic rs397514366 GRCh38 Chromosome 3, 15644371: 15644371
83 BTD NM_000060.4(BTD): c.528G> T (p.Lys176Asn) single nucleotide variant Pathogenic/Likely pathogenic rs397514367 GRCh37 Chromosome 3, 15685891: 15685891
84 BTD NM_000060.4(BTD): c.528G> T (p.Lys176Asn) single nucleotide variant Pathogenic/Likely pathogenic rs397514367 GRCh38 Chromosome 3, 15644384: 15644384
85 BTD NM_000060.4(BTD): c.544delA (p.Ser182Valfs) deletion Pathogenic rs397514368 GRCh37 Chromosome 3, 15685907: 15685907
86 BTD NM_000060.4(BTD): c.544delA (p.Ser182Valfs) deletion Pathogenic rs397514368 GRCh38 Chromosome 3, 15644400: 15644400
87 BTD NM_000060.4(BTD): c.557G> A (p.Cys186Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs397514369 GRCh37 Chromosome 3, 15685920: 15685920
88 BTD NM_000060.4(BTD): c.557G> A (p.Cys186Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs397514369 GRCh38 Chromosome 3, 15644413: 15644413
89 BTD NM_000060.4(BTD): c.583A> G (p.Asn195Asp) single nucleotide variant Pathogenic rs397514370 GRCh37 Chromosome 3, 15685946: 15685946
90 BTD NM_000060.4(BTD): c.583A> G (p.Asn195Asp) single nucleotide variant Pathogenic rs397514370 GRCh38 Chromosome 3, 15644439: 15644439
91 BTD NM_000060.4(BTD): c.584A> G (p.Asn195Ser) single nucleotide variant Pathogenic rs397514371 GRCh37 Chromosome 3, 15685947: 15685947
92 BTD NM_000060.4(BTD): c.584A> G (p.Asn195Ser) single nucleotide variant Pathogenic rs397514371 GRCh38 Chromosome 3, 15644440: 15644440
93 BTD NM_000060.4(BTD): c.587C> G (p.Thr196Arg) single nucleotide variant Pathogenic rs397514372 GRCh37 Chromosome 3, 15685950: 15685950
94 BTD NM_000060.4(BTD): c.587C> G (p.Thr196Arg) single nucleotide variant Pathogenic rs397514372 GRCh38 Chromosome 3, 15644443: 15644443
95 BTD NM_000060.4(BTD): c.594_596delCGT (p.Val199del) deletion Pathogenic rs397514373 GRCh37 Chromosome 3, 15685957: 15685959
96 BTD NM_000060.4(BTD): c.594_596delCGT (p.Val199del) deletion Pathogenic rs397514373 GRCh38 Chromosome 3, 15644450: 15644452
97 BTD NM_000060.4(BTD): c.594delC (p.Val199Cysfs) deletion Pathogenic rs397514374 GRCh37 Chromosome 3, 15685957: 15685957
98 BTD NM_000060.4(BTD): c.594delC (p.Val199Cysfs) deletion Pathogenic rs397514374 GRCh38 Chromosome 3, 15644450: 15644450
99 BTD NM_000060.4(BTD): c.595G> A (p.Val199Met) single nucleotide variant Likely pathogenic rs397514375 GRCh37 Chromosome 3, 15685958: 15685958
100 BTD NM_000060.4(BTD): c.595G> A (p.Val199Met) single nucleotide variant Likely pathogenic rs397514375 GRCh38 Chromosome 3, 15644451: 15644451
101 BTD NM_000060.4(BTD): c.605A> T (p.Asn202Ile) single nucleotide variant Pathogenic rs397514376 GRCh37 Chromosome 3, 15685968: 15685968
102 BTD NM_000060.4(BTD): c.605A> T (p.Asn202Ile) single nucleotide variant Pathogenic rs397514376 GRCh38 Chromosome 3, 15644461: 15644461
103 BTD NM_000060.4(BTD): c.631C> T (p.Arg211Cys) single nucleotide variant Pathogenic rs372844636 GRCh37 Chromosome 3, 15685994: 15685994
104 BTD NM_000060.4(BTD): c.631C> T (p.Arg211Cys) single nucleotide variant Pathogenic rs372844636 GRCh38 Chromosome 3, 15644487: 15644487
105 BTD NM_000060.4(BTD): c.643C> T (p.Leu215Phe) single nucleotide variant Pathogenic rs190386869 GRCh37 Chromosome 3, 15686006: 15686006
106 BTD NM_000060.4(BTD): c.643C> T (p.Leu215Phe) single nucleotide variant Pathogenic rs190386869 GRCh38 Chromosome 3, 15644499: 15644499
107 BTD NM_000060.4(BTD): c.652G> C (p.Glu218Gln) single nucleotide variant Pathogenic rs397514378 GRCh37 Chromosome 3, 15686015: 15686015
108 BTD NM_000060.4(BTD): c.652G> C (p.Glu218Gln) single nucleotide variant Pathogenic rs397514378 GRCh38 Chromosome 3, 15644508: 15644508
109 BTD NM_000060.4(BTD): c.654G> C (p.Glu218Asp) single nucleotide variant Pathogenic rs397514379 GRCh37 Chromosome 3, 15686017: 15686017
110 BTD NM_000060.4(BTD): c.654G> C (p.Glu218Asp) single nucleotide variant Pathogenic rs397514379 GRCh38 Chromosome 3, 15644510: 15644510
111 BTD NM_000060.4(BTD): c.682G> T (p.Asp228Tyr) single nucleotide variant Pathogenic rs397514380 GRCh37 Chromosome 3, 15686045: 15686045
112 BTD NM_000060.4(BTD): c.682G> T (p.Asp228Tyr) single nucleotide variant Pathogenic rs397514380 GRCh38 Chromosome 3, 15644538: 15644538
113 BTD NM_000060.4(BTD): c.709G> A (p.Ala237Thr) single nucleotide variant Pathogenic rs397514381 GRCh37 Chromosome 3, 15686072: 15686072
114 BTD NM_000060.4(BTD): c.709G> A (p.Ala237Thr) single nucleotide variant Pathogenic rs397514381 GRCh38 Chromosome 3, 15644565: 15644565
115 BTD NM_000060.4(BTD): c.743T> C (p.Ile248Thr) single nucleotide variant Likely pathogenic rs397514382 GRCh37 Chromosome 3, 15686106: 15686106
116 BTD NM_000060.4(BTD): c.743T> C (p.Ile248Thr) single nucleotide variant Likely pathogenic rs397514382 GRCh38 Chromosome 3, 15644599: 15644599
117 BTD NM_000060.4(BTD): c.757C> T (p.Pro253Ser) single nucleotide variant Pathogenic rs397514383 GRCh37 Chromosome 3, 15686120: 15686120
118 BTD NM_000060.4(BTD): c.757C> T (p.Pro253Ser) single nucleotide variant Pathogenic rs397514383 GRCh38 Chromosome 3, 15644613: 15644613
119 BTD NM_000060.4(BTD): c.764T> C (p.Ile255Thr) single nucleotide variant Pathogenic rs397514384 GRCh37 Chromosome 3, 15686127: 15686127
120 BTD NM_000060.4(BTD): c.764T> C (p.Ile255Thr) single nucleotide variant Pathogenic rs397514384 GRCh38 Chromosome 3, 15644620: 15644620
121 BTD NM_000060.4(BTD): c.794A> T (p.His265Leu) single nucleotide variant Pathogenic rs397514385 GRCh37 Chromosome 3, 15686157: 15686157
122 BTD NM_000060.4(BTD): c.794A> T (p.His265Leu) single nucleotide variant Pathogenic rs397514385 GRCh38 Chromosome 3, 15644650: 15644650
123 BTD NM_000060.4(BTD): c.933T> G (p.Ser311Arg) single nucleotide variant Pathogenic rs397514386 GRCh37 Chromosome 3, 15686296: 15686296
124 BTD NM_000060.4(BTD): c.933T> G (p.Ser311Arg) single nucleotide variant Pathogenic rs397514386 GRCh38 Chromosome 3, 15644789: 15644789
125 BTD NM_000060.4(BTD): c.814T> G (p.Trp272Gly) single nucleotide variant Pathogenic rs397514387 GRCh37 Chromosome 3, 15686177: 15686177
126 BTD NM_000060.4(BTD): c.814T> G (p.Trp272Gly) single nucleotide variant Pathogenic rs397514387 GRCh38 Chromosome 3, 15644670: 15644670
127 BTD NM_000060.4(BTD): c.832C> G (p.Leu278Val) single nucleotide variant Pathogenic rs397514388 GRCh37 Chromosome 3, 15686195: 15686195
128 BTD NM_000060.4(BTD): c.832C> G (p.Leu278Val) single nucleotide variant Pathogenic rs397514388 GRCh38 Chromosome 3, 15644688: 15644688
129 BTD NM_000060.4(BTD): c.833T> C (p.Leu278Pro) single nucleotide variant Pathogenic rs397514389 GRCh37 Chromosome 3, 15686196: 15686196
130 BTD NM_000060.4(BTD): c.833T> C (p.Leu278Pro) single nucleotide variant Pathogenic rs397514389 GRCh38 Chromosome 3, 15644689: 15644689
131 BTD NM_000060.4(BTD): c.836T> G (p.Leu279Trp) single nucleotide variant Pathogenic rs397514390 GRCh37 Chromosome 3, 15686199: 15686199
132 BTD NM_000060.4(BTD): c.836T> G (p.Leu279Trp) single nucleotide variant Pathogenic rs397514390 GRCh38 Chromosome 3, 15644692: 15644692
133 BTD NM_000060.4(BTD): c.887T> G (p.Val296Gly) single nucleotide variant Pathogenic rs397514391 GRCh37 Chromosome 3, 15686250: 15686250
134 BTD NM_000060.4(BTD): c.887T> G (p.Val296Gly) single nucleotide variant Pathogenic rs397514391 GRCh38 Chromosome 3, 15644743: 15644743
135 BTD NM_000060.4(BTD): c.896C> T (p.Ala299Val) single nucleotide variant Pathogenic rs397514392 GRCh37 Chromosome 3, 15686259: 15686259
136 BTD NM_000060.4(BTD): c.896C> T (p.Ala299Val) single nucleotide variant Pathogenic rs397514392 GRCh38 Chromosome 3, 15644752: 15644752
137 BTD NM_000060.4(BTD): c.929G> A (p.Gly310Glu) single nucleotide variant Pathogenic rs397514393 GRCh37 Chromosome 3, 15686292: 15686292
138 BTD NM_000060.4(BTD): c.929G> A (p.Gly310Glu) single nucleotide variant Pathogenic rs397514393 GRCh38 Chromosome 3, 15644785: 15644785
139 BTD NM_000060.4(BTD): c.932G> A (p.Ser311Asn) single nucleotide variant Pathogenic rs397514394 GRCh37 Chromosome 3, 15686295: 15686295
140 BTD NM_000060.4(BTD): c.932G> A (p.Ser311Asn) single nucleotide variant Pathogenic rs397514394 GRCh38 Chromosome 3, 15644788: 15644788
141 BTD NM_000060.4(BTD): c.933delT (p.Ser311Argfs) deletion Pathogenic/Likely pathogenic rs397514395 GRCh37 Chromosome 3, 15686296: 15686296
142 BTD NM_000060.4(BTD): c.933delT (p.Ser311Argfs) deletion Pathogenic/Likely pathogenic rs397514395 GRCh38 Chromosome 3, 15644789: 15644789
143 BTD NM_000060.4(BTD): c.934G> A (p.Gly312Ser) single nucleotide variant Pathogenic rs397514396 GRCh37 Chromosome 3, 15686297: 15686297
144 BTD NM_000060.4(BTD): c.934G> A (p.Gly312Ser) single nucleotide variant Pathogenic rs397514396 GRCh38 Chromosome 3, 15644790: 15644790
145 BTD NM_000060.4(BTD): c.935G> A (p.Gly312Asp) single nucleotide variant Pathogenic rs377651057 GRCh37 Chromosome 3, 15686298: 15686298
146 BTD NM_000060.4(BTD): c.935G> A (p.Gly312Asp) single nucleotide variant Pathogenic rs377651057 GRCh38 Chromosome 3, 15644791: 15644791
147 BTD NM_000060.4(BTD): c.1049delC (p.Ala350Glufs) deletion Pathogenic rs397514397 GRCh37 Chromosome 3, 15686412: 15686412
148 BTD NM_000060.4(BTD): c.1049delC (p.Ala350Glufs) deletion Pathogenic rs397514397 GRCh38 Chromosome 3, 15644905: 15644905
149 BTD NM_000060.4(BTD): c.1052delC (p.Thr351Lysfs) deletion Pathogenic rs397514398 GRCh37 Chromosome 3, 15686415: 15686415
150 BTD NM_000060.4(BTD): c.1052delC (p.Thr351Lysfs) deletion Pathogenic rs397514398 GRCh38 Chromosome 3, 15644908: 15644908
151 BTD NM_000060.4(BTD): c.1096T> C (p.Ser366Pro) single nucleotide variant Pathogenic rs397514399 GRCh37 Chromosome 3, 15686459: 15686459
152 BTD NM_000060.4(BTD): c.1096T> C (p.Ser366Pro) single nucleotide variant Pathogenic rs397514399 GRCh38 Chromosome 3, 15644952: 15644952
153 BTD NM_000060.4(BTD): c.1106C> T (p.Pro369Leu) single nucleotide variant Pathogenic rs397514400 GRCh37 Chromosome 3, 15686469: 15686469
154 BTD NM_000060.4(BTD): c.1106C> T (p.Pro369Leu) single nucleotide variant Pathogenic rs397514400 GRCh38 Chromosome 3, 15644962: 15644962
155 BTD NM_000060.4(BTD): c.1334G> T (p.Gly445Val) single nucleotide variant Pathogenic rs397514402 GRCh37 Chromosome 3, 15686697: 15686697
156 BTD NM_000060.4(BTD): c.1334G> T (p.Gly445Val) single nucleotide variant Pathogenic rs397514402 GRCh38 Chromosome 3, 15645190: 15645190
157 BTD NM_000060.4(BTD): c.1191_1192delGA (p.Glu397Aspfs) deletion Pathogenic rs397514403 GRCh37 Chromosome 3, 15686554: 15686555
158 BTD NM_000060.4(BTD): c.1191_1192delGA (p.Glu397Aspfs) deletion Pathogenic rs397514403 GRCh38 Chromosome 3, 15645047: 15645048
159 BTD NM_000060.4(BTD): c.1211C> T (p.Thr404Ile) single nucleotide variant Pathogenic rs397514405 GRCh37 Chromosome 3, 15686574: 15686574
160 BTD NM_000060.4(BTD): c.1211C> T (p.Thr404Ile) single nucleotide variant Pathogenic rs397514405 GRCh38 Chromosome 3, 15645067: 15645067
161 BTD NM_000060.4(BTD): c.1214T> C (p.Leu405Pro) single nucleotide variant Pathogenic rs397514406 GRCh37 Chromosome 3, 15686577: 15686577
162 BTD NM_000060.4(BTD): c.1214T> C (p.Leu405Pro) single nucleotide variant Pathogenic rs397514406 GRCh38 Chromosome 3, 15645070: 15645070
163 BTD NM_000060.4(BTD): c.1227_1241delGGGAAAGGAAGGCTAins11 indel Pathogenic rs672601248 GRCh37 Chromosome 3, 15686590: 15686604
164 BTD NM_000060.4(BTD): c.1227_1241delGGGAAAGGAAGGCTAins11 indel Pathogenic rs672601248 GRCh38 Chromosome 3, 15645083: 15645097
165 BTD NM_000060.4(BTD): c.1239delC (p.Tyr414Ilefs) deletion Pathogenic rs397514407 GRCh37 Chromosome 3, 15686602: 15686602
166 BTD NM_000060.4(BTD): c.1239delC (p.Tyr414Ilefs) deletion Pathogenic rs397514407 GRCh38 Chromosome 3, 15645095: 15645095
167 BTD NM_000060.4(BTD): c.1252T> C (p.Cys418Arg) single nucleotide variant Pathogenic rs397514408 GRCh37 Chromosome 3, 15686615: 15686615
168 BTD NM_000060.4(BTD): c.1252T> C (p.Cys418Arg) single nucleotide variant Pathogenic rs397514408 GRCh38 Chromosome 3, 15645108: 15645108
169 BTD NM_000060.4(BTD): c.1249G> T (p.Val417Phe) single nucleotide variant Pathogenic rs397514409 GRCh37 Chromosome 3, 15686612: 15686612
170 BTD NM_000060.4(BTD): c.1249G> T (p.Val417Phe) single nucleotide variant Pathogenic rs397514409 GRCh38 Chromosome 3, 15645105: 15645105
171 BTD NM_000060.4(BTD): c.1253G> C (p.Cys418Ser) single nucleotide variant Pathogenic rs397514410 GRCh37 Chromosome 3, 15686616: 15686616
172 BTD NM_000060.4(BTD): c.1253G> C (p.Cys418Ser) single nucleotide variant Pathogenic rs397514410 GRCh38 Chromosome 3, 15645109: 15645109
173 BTD NM_000060.4(BTD): c.1264dupC (p.Leu422Profs) duplication Pathogenic rs397514411 GRCh37 Chromosome 3, 15686627: 15686627
174 BTD NM_000060.4(BTD): c.1264dupC (p.Leu422Profs) duplication Pathogenic rs397514411 GRCh38 Chromosome 3, 15645120: 15645120
175 BTD NM_000060.4(BTD): c.1267T> C (p.Cys423Arg) single nucleotide variant Pathogenic rs397514412 GRCh37 Chromosome 3, 15686630: 15686630
176 BTD NM_000060.4(BTD): c.1267T> C (p.Cys423Arg) single nucleotide variant Pathogenic rs397514412 GRCh38 Chromosome 3, 15645123: 15645123
177 BTD NM_000060.4(BTD): c.1268G> C (p.Cys423Ser) single nucleotide variant Pathogenic rs397514413 GRCh37 Chromosome 3, 15686631: 15686631
178 BTD NM_000060.4(BTD): c.1268G> C (p.Cys423Ser) single nucleotide variant Pathogenic rs397514413 GRCh38 Chromosome 3, 15645124: 15645124
179 BTD NM_000060.4(BTD): c.1271G> A (p.Cys424Tyr) single nucleotide variant Likely pathogenic rs397514335 GRCh37 Chromosome 3, 15686634: 15686634
180 BTD NM_000060.4(BTD): c.1271G> A (p.Cys424Tyr) single nucleotide variant Likely pathogenic rs397514335 GRCh38 Chromosome 3, 15645127: 15645127
181 BTD NM_000060.4(BTD): c.1275T> G (p.Tyr425Ter) single nucleotide variant Pathogenic rs397514414 GRCh37 Chromosome 3, 15686638: 15686638
182 BTD NM_000060.4(BTD): c.1275T> G (p.Tyr425Ter) single nucleotide variant Pathogenic rs397514414 GRCh38 Chromosome 3, 15645131: 15645131
183 BTD NM_000060.4(BTD): c.1284C> A (p.Tyr428Ter) single nucleotide variant Pathogenic rs35145938 GRCh37 Chromosome 3, 15686647: 15686647
184 BTD NM_000060.4(BTD): c.1284C> A (p.Tyr428Ter) single nucleotide variant Pathogenic rs35145938 GRCh38 Chromosome 3, 15645140: 15645140
185 BTD NM_000060.4(BTD): c.1313A> G (p.Tyr438Cys) single nucleotide variant Pathogenic rs397514415 GRCh37 Chromosome 3, 15686676: 15686676
186 BTD NM_000060.4(BTD): c.1313A> G (p.Tyr438Cys) single nucleotide variant Pathogenic rs397514415 GRCh38 Chromosome 3, 15645169: 15645169
187 BTD NM_000060.4(BTD): c.1314T> A (p.Tyr438Ter) single nucleotide variant Likely pathogenic rs397514416 GRCh37 Chromosome 3, 15686677: 15686677
188 BTD NM_000060.4(BTD): c.1314T> A (p.Tyr438Ter) single nucleotide variant Likely pathogenic rs397514416 GRCh38 Chromosome 3, 15645170: 15645170
189 BTD NM_000060.4(BTD): c.1333G> A (p.Gly445Arg) single nucleotide variant Pathogenic rs397514417 GRCh37 Chromosome 3, 15686696: 15686696
190 BTD NM_000060.4(BTD): c.1333G> A (p.Gly445Arg) single nucleotide variant Pathogenic rs397514417 GRCh38 Chromosome 3, 15645189: 15645189
191 BTD NM_000060.4(BTD): c.1339C> T (p.His447Tyr) single nucleotide variant Pathogenic rs397514418 GRCh37 Chromosome 3, 15686702: 15686702
192 BTD NM_000060.4(BTD): c.1339C> T (p.His447Tyr) single nucleotide variant Pathogenic rs397514418 GRCh38 Chromosome 3, 15645195: 15645195
193 BTD NM_000060.4(BTD): c.1352G> A (p.Gly451Asp) single nucleotide variant Pathogenic rs397514419 GRCh37 Chromosome 3, 15686715: 15686715
194 BTD NM_000060.4(BTD): c.1352G> A (p.Gly451Asp) single nucleotide variant Pathogenic rs397514419 GRCh38 Chromosome 3, 15645208: 15645208
195 BTD NM_000060.4(BTD): c.1369G> A (p.Val457Met) single nucleotide variant Pathogenic rs146600671 GRCh37 Chromosome 3, 15686732: 15686732
196 BTD NM_000060.4(BTD): c.1369G> A (p.Val457Met) single nucleotide variant Pathogenic rs146600671 GRCh38 Chromosome 3, 15645225: 15645225
197 BTD NM_000060.4(BTD): c.1384delA (p.Arg462Glyfs) deletion Pathogenic rs397514420 GRCh37 Chromosome 3, 15686747: 15686747
198 BTD NM_000060.4(BTD): c.1384delA (p.Arg462Glyfs) deletion Pathogenic rs397514420 GRCh38 Chromosome 3, 15645240: 15645240
199 BTD NM_000060.4(BTD): c.1388G> A (p.Cys463Tyr) single nucleotide variant Pathogenic rs397514421 GRCh37 Chromosome 3, 15686751: 15686751
200 BTD NM_000060.4(BTD): c.1388G> A (p.Cys463Tyr) single nucleotide variant Pathogenic rs397514421 GRCh38 Chromosome 3, 15645244: 15645244
201 BTD NM_000060.4(BTD): c.1432G> C (p.Ala478Pro) single nucleotide variant Pathogenic rs181396238 GRCh37 Chromosome 3, 15686795: 15686795
202 BTD NM_000060.4(BTD): c.1432G> C (p.Ala478Pro) single nucleotide variant Pathogenic rs181396238 GRCh38 Chromosome 3, 15645288: 15645288
203 BTD NM_000060.4(BTD): c.1455C> G (p.His485Gln) single nucleotide variant Pathogenic rs201604102 GRCh37 Chromosome 3, 15686818: 15686818
204 BTD NM_000060.4(BTD): c.1455C> G (p.His485Gln) single nucleotide variant Pathogenic rs201604102 GRCh38 Chromosome 3, 15645311: 15645311
205 BTD NM_000060.4(BTD): c.1459T> C (p.Trp487Arg) single nucleotide variant Pathogenic rs397514422 GRCh37 Chromosome 3, 15686822: 15686822
206 BTD NM_000060.4(BTD): c.1459T> C (p.Trp487Arg) single nucleotide variant Pathogenic rs397514422 GRCh38 Chromosome 3, 15645315: 15645315
207 BTD NM_000060.4(BTD): c.1459delT (p.Trp487Glyfs) deletion Likely pathogenic rs397514423 GRCh37 Chromosome 3, 15686822: 15686822
208 BTD NM_000060.4(BTD): c.1459delT (p.Trp487Glyfs) deletion Likely pathogenic rs397514423 GRCh38 Chromosome 3, 15645315: 15645315
209 BTD NM_000060.4(BTD): c.1463G> A (p.Gly488Asp) single nucleotide variant Pathogenic rs397514424 GRCh37 Chromosome 3, 15686826: 15686826
210 BTD NM_000060.4(BTD): c.1463G> A (p.Gly488Asp) single nucleotide variant Pathogenic rs397514424 GRCh38 Chromosome 3, 15645319: 15645319
211 BTD NM_000060.4(BTD): c.1489C> T (p.Pro497Ser) single nucleotide variant Pathogenic rs138818907 GRCh37 Chromosome 3, 15686852: 15686852
212 BTD NM_000060.4(BTD): c.1489C> T (p.Pro497Ser) single nucleotide variant Pathogenic rs138818907 GRCh38 Chromosome 3, 15645345: 15645345
213 BTD NM_000060.4(BTD): c.1493dupT (p.Leu498Phefs) duplication Pathogenic rs397514425 GRCh37 Chromosome 3, 15686856: 15686856
214 BTD NM_000060.4(BTD): c.1493dupT (p.Leu498Phefs) duplication Pathogenic rs397514425 GRCh38 Chromosome 3, 15645349: 15645349
215 BTD NM_000060.4(BTD): c.1511T> A (p.Met504Lys) single nucleotide variant Pathogenic rs397514426 GRCh37 Chromosome 3, 15686874: 15686874
216 BTD NM_000060.4(BTD): c.1511T> A (p.Met504Lys) single nucleotide variant Pathogenic rs397514426 GRCh38 Chromosome 3, 15645367: 15645367
217 BTD NM_000060.4(BTD): c.1531C> G (p.Gln511Glu) single nucleotide variant Pathogenic rs397514427 GRCh37 Chromosome 3, 15686894: 15686894
218 BTD NM_000060.4(BTD): c.1531C> G (p.Gln511Glu) single nucleotide variant Pathogenic rs397514427 GRCh38 Chromosome 3, 15645387: 15645387
219 BTD NM_000060.4(BTD): c.1610G> A (p.Gly537Glu) single nucleotide variant Pathogenic rs397514428 GRCh37 Chromosome 3, 15686973: 15686973
220 BTD NM_000060.4(BTD): c.1610G> A (p.Gly537Glu) single nucleotide variant Pathogenic rs397514428 GRCh38 Chromosome 3, 15645466: 15645466
221 BTD NM_000060.4(BTD): c.1613G> A (p.Arg538His) single nucleotide variant Pathogenic rs397514429 GRCh37 Chromosome 3, 15686976: 15686976
222 BTD NM_000060.4(BTD): c.1613G> A (p.Arg538His) single nucleotide variant Pathogenic rs397514429 GRCh38 Chromosome 3, 15645469: 15645469
223 BTD NM_000060.4(BTD): c.1616dupT (p.Leu539Phefs) duplication Pathogenic rs397514430 GRCh37 Chromosome 3, 15686979: 15686979
224 BTD NM_000060.4(BTD): c.1616dupT (p.Leu539Phefs) duplication Pathogenic rs397514430 GRCh38 Chromosome 3, 15645472: 15645472
225 BTD NM_000060.4(BTD): c.1627G> C (p.Asp543His) single nucleotide variant Pathogenic rs397514432 GRCh37 Chromosome 3, 15686990: 15686990
226 BTD NM_000060.4(BTD): c.1627G> C (p.Asp543His) single nucleotide variant Pathogenic rs397514432 GRCh38 Chromosome 3, 15645483: 15645483
227 BTD NM_000060.4(BTD): c.664G> C (p.Asp222His) single nucleotide variant Pathogenic rs200337373 GRCh37 Chromosome 3, 15686027: 15686027
228 BTD NM_000060.4(BTD): c.664G> C (p.Asp222His) single nucleotide variant Pathogenic rs200337373 GRCh38 Chromosome 3, 15644520: 15644520
229 BTD NM_000060.4(BTD): c.1001T> A (p.Ile334Asn) single nucleotide variant Pathogenic rs397514433 GRCh37 Chromosome 3, 15686364: 15686364
230 BTD NM_000060.4(BTD): c.1001T> A (p.Ile334Asn) single nucleotide variant Pathogenic rs397514433 GRCh38 Chromosome 3, 15644857: 15644857
231 BTD NM_000060.4(BTD): c.1432G> A (p.Ala478Thr) single nucleotide variant Pathogenic rs181396238 GRCh37 Chromosome 3, 15686795: 15686795
232 BTD NM_000060.4(BTD): c.1432G> A (p.Ala478Thr) single nucleotide variant Pathogenic rs181396238 GRCh38 Chromosome 3, 15645288: 15645288
233 BTD NM_000060.4(BTD): c.1158G> A (p.Trp386Ter) single nucleotide variant Likely pathogenic rs397514434 GRCh38 Chromosome 3, 15645014: 15645014
234 BTD NM_000060.4(BTD): c.1158G> A (p.Trp386Ter) single nucleotide variant Likely pathogenic rs397514434 GRCh37 Chromosome 3, 15686521: 15686521
235 BTD NM_000060.4(BTD): c.629A> G (p.Tyr210Cys) single nucleotide variant Likely pathogenic rs397507174 GRCh37 Chromosome 3, 15685992: 15685992
236 BTD NM_000060.4(BTD): c.629A> G (p.Tyr210Cys) single nucleotide variant Likely pathogenic rs397507174 GRCh38 Chromosome 3, 15644485: 15644485
237 BTD NM_000060.4(BTD): c.559C> T (p.Pro187Ser) single nucleotide variant Pathogenic rs397507173 GRCh37 Chromosome 3, 15685922: 15685922
238 BTD NM_000060.4(BTD): c.559C> T (p.Pro187Ser) single nucleotide variant Pathogenic rs397507173 GRCh38 Chromosome 3, 15644415: 15644415
239 BTD NM_000060.4(BTD): c.734G> A (p.Cys245Tyr) single nucleotide variant Likely pathogenic rs397507175 GRCh37 Chromosome 3, 15686097: 15686097
240 BTD NM_000060.4(BTD): c.734G> A (p.Cys245Tyr) single nucleotide variant Likely pathogenic rs397507175 GRCh38 Chromosome 3, 15644590: 15644590
241 BTD NM_000060.4(BTD): c.326T> G (p.Val109Gly) single nucleotide variant Pathogenic rs397507172 GRCh37 Chromosome 3, 15683431: 15683431
242 BTD NM_000060.4(BTD): c.326T> G (p.Val109Gly) single nucleotide variant Pathogenic rs397507172 GRCh38 Chromosome 3, 15641924: 15641924
243 BTD NM_000060.4(BTD): c.470G> A (p.Arg157His) single nucleotide variant Pathogenic rs146015592 GRCh37 Chromosome 3, 15685833: 15685833
244 BTD NM_000060.4(BTD): c.470G> A (p.Arg157His) single nucleotide variant Pathogenic rs146015592 GRCh38 Chromosome 3, 15644326: 15644326
245 BTD NM_000060.4(BTD): c.184G> A (p.Val62Met) single nucleotide variant Pathogenic rs397507170 GRCh37 Chromosome 3, 15677070: 15677070
246 BTD NM_000060.4(BTD): c.184G> A (p.Val62Met) single nucleotide variant Pathogenic rs397507170 GRCh38 Chromosome 3, 15635563: 15635563
247 BTD NM_000060.4(BTD): c.236G> A (p.Arg79His) single nucleotide variant Pathogenic rs397514343 GRCh37 Chromosome 3, 15677122: 15677122
248 BTD NM_000060.4(BTD): c.236G> A (p.Arg79His) single nucleotide variant Pathogenic rs397514343 GRCh38 Chromosome 3, 15635615: 15635615
249 BTD NM_000060.4(BTD): c.245C> A (p.Ala82Asp) single nucleotide variant Pathogenic rs397507171 GRCh37 Chromosome 3, 15677131: 15677131
250 BTD NM_000060.4(BTD): c.245C> A (p.Ala82Asp) single nucleotide variant Pathogenic rs397507171 GRCh38 Chromosome 3, 15635624: 15635624
251 BTD NM_000060.4(BTD): c.128A> G (p.His43Arg) single nucleotide variant Pathogenic rs146011150 GRCh37 Chromosome 3, 15677014: 15677014
252 BTD NM_000060.4(BTD): c.128A> G (p.His43Arg) single nucleotide variant Pathogenic rs146011150 GRCh38 Chromosome 3, 15635507: 15635507
253 BTD NM_000060.4(BTD): c.1241_1252delATCTCCACGTCT (p.Tyr414_Val417del) deletion Pathogenic rs397514404 GRCh37 Chromosome 3, 15686604: 15686615
254 BTD NM_000060.4(BTD): c.1241_1252delATCTCCACGTCT (p.Tyr414_Val417del) deletion Pathogenic rs397514404 GRCh38 Chromosome 3, 15645097: 15645108
255 BTD NM_000060.4(BTD): c.192G> C (p.Glu64Asp) single nucleotide variant Pathogenic rs397514436 GRCh37 Chromosome 3, 15677078: 15677078
256 BTD NM_000060.4(BTD): c.192G> C (p.Glu64Asp) single nucleotide variant Pathogenic rs397514436 GRCh38 Chromosome 3, 15635571: 15635571
257 BTD NM_000060.4(BTD): c.518T> G (p.Leu173Arg) single nucleotide variant Pathogenic rs397514437 GRCh37 Chromosome 3, 15685881: 15685881
258 BTD NM_000060.4(BTD): c.518T> G (p.Leu173Arg) single nucleotide variant Pathogenic rs397514437 GRCh38 Chromosome 3, 15644374: 15644374
259 BTD NM_000060.4(BTD): c.758C> T (p.Pro253Leu) single nucleotide variant Pathogenic rs397514438 GRCh37 Chromosome 3, 15686121: 15686121
260 BTD NM_000060.4(BTD): c.758C> T (p.Pro253Leu) single nucleotide variant Pathogenic rs397514438 GRCh38 Chromosome 3, 15644614: 15644614
261 BTD NM_000060.4(BTD): c.407dupA (p.Val137Glyfs) insertion Pathogenic rs397514439 GRCh37 Chromosome 3, 15683512: 15683512
262 BTD NM_000060.4(BTD): c.407dupA (p.Val137Glyfs) insertion Pathogenic rs397514439 GRCh38 Chromosome 3, 15642005: 15642005
263 BTD NM_000060.4(BTD): c.1394dupG (p.Leu466Serfs) duplication Likely pathogenic rs397514440 GRCh37 Chromosome 3, 15686757: 15686757
264 BTD NM_000060.4(BTD): c.1394dupG (p.Leu466Serfs) duplication Likely pathogenic rs397514440 GRCh38 Chromosome 3, 15645250: 15645250
265 BTD NM_000060.4(BTD): c.1508_1512delGGATG (p.Gly503Aspfs) deletion Pathogenic rs398123138 GRCh37 Chromosome 3, 15686871: 15686875
266 BTD NM_000060.4(BTD): c.1508_1512delGGATG (p.Gly503Aspfs) deletion Pathogenic rs398123138 GRCh38 Chromosome 3, 15645364: 15645368
267 BTD NM_000060.4(BTD): c.257T> G (p.Met86Arg) single nucleotide variant Pathogenic rs587783002 GRCh37 Chromosome 3, 15677143: 15677143
268 BTD NM_000060.4(BTD): c.257T> G (p.Met86Arg) single nucleotide variant Pathogenic rs587783002 GRCh38 Chromosome 3, 15635636: 15635636
269 BTD NM_000060.4(BTD): c.455C> G (p.Thr152Arg) single nucleotide variant Pathogenic rs587783003 GRCh37 Chromosome 3, 15683560: 15683560
270 BTD NM_000060.4(BTD): c.455C> G (p.Thr152Arg) single nucleotide variant Pathogenic rs587783003 GRCh38 Chromosome 3, 15642053: 15642053
271 BTD NM_000060.4(BTD): c.683A> G (p.Asp228Gly) single nucleotide variant Pathogenic rs587783004 GRCh37 Chromosome 3, 15686046: 15686046
272 BTD NM_000060.4(BTD): c.683A> G (p.Asp228Gly) single nucleotide variant Pathogenic rs587783004 GRCh38 Chromosome 3, 15644539: 15644539
273 BTD NM_000060.4(BTD): c.701C> T (p.Thr234Ile) single nucleotide variant Pathogenic rs587783005 GRCh37 Chromosome 3, 15686064: 15686064
274 BTD NM_000060.4(BTD): c.701C> T (p.Thr234Ile) single nucleotide variant Pathogenic rs587783005 GRCh38 Chromosome 3, 15644557: 15644557
275 BTD NM_000060.4(BTD): c.898A> C (p.Asn300His) single nucleotide variant Likely pathogenic rs587783006 GRCh37 Chromosome 3, 15686261: 15686261
276 BTD NM_000060.4(BTD): c.898A> C (p.Asn300His) single nucleotide variant Likely pathogenic rs587783006 GRCh38 Chromosome 3, 15644754: 15644754
277 BTD NM_000060.4(BTD): c.1372dupT (p.Cys458Leufs) duplication Pathogenic rs587783007 GRCh37 Chromosome 3, 15686735: 15686735
278 BTD NM_000060.4(BTD): c.1372dupT (p.Cys458Leufs) duplication Pathogenic rs587783007 GRCh38 Chromosome 3, 15645228: 15645228
279 BTD NM_000060.4(BTD): c.310-15delT deletion Pathogenic rs587783008 GRCh37 Chromosome 3, 15683400: 15683400
280 BTD NM_000060.4(BTD): c.310-15delT deletion Pathogenic rs587783008 GRCh38 Chromosome 3, 15641893: 15641893
281 BTD NM_000060.4(BTD): c.202_205dupATCC (p.Leu69Hisfs) duplication Likely pathogenic rs786204672 GRCh37 Chromosome 3, 15677088: 15677091
282 BTD NM_000060.4(BTD): c.202_205dupATCC (p.Leu69Hisfs) duplication Likely pathogenic rs786204672 GRCh38 Chromosome 3, 15635581: 15635584
283 BTD NM_000060.4(BTD) indel Likely pathogenic rs672601248 GRCh37 Chromosome 3, 15686590: 15686604
284 BTD NM_000060.4(BTD) indel Likely pathogenic rs672601248 GRCh38 Chromosome 3, 15645083: 15645097
285 BTD NM_000060.4(BTD): c.1612C> A (p.Arg538Ser) single nucleotide variant Pathogenic/Likely pathogenic rs80338686 GRCh38 Chromosome 3, 15645468: 15645468
286 BTD NM_000060.4(BTD): c.1612C> A (p.Arg538Ser) single nucleotide variant Pathogenic/Likely pathogenic rs80338686 GRCh37 Chromosome 3, 15686975: 15686975
287 BTD NM_000060.4(BTD): c.1410dupC (p.Cys471Leufs) duplication Pathogenic/Likely pathogenic rs886041559 GRCh37 Chromosome 3, 15686773: 15686773
288 BTD NM_000060.4(BTD): c.1410dupC (p.Cys471Leufs) duplication Pathogenic/Likely pathogenic rs886041559 GRCh38 Chromosome 3, 15645266: 15645266
289 BTD NM_000060.4(BTD): c.1101C> T (p.Gly367=) single nucleotide variant Conflicting interpretations of pathogenicity rs142421934 GRCh37 Chromosome 3, 15686464: 15686464
290 BTD NM_000060.4(BTD): c.1101C> T (p.Gly367=) single nucleotide variant Conflicting interpretations of pathogenicity rs142421934 GRCh38 Chromosome 3, 15644957: 15644957
291 BTD NM_000060.4(BTD): c.1062G> A (p.Thr354=) single nucleotide variant Benign/Likely benign rs148764524 GRCh37 Chromosome 3, 15686425: 15686425
292 BTD NM_000060.4(BTD): c.1062G> A (p.Thr354=) single nucleotide variant Benign/Likely benign rs148764524 GRCh38 Chromosome 3, 15644918: 15644918
293 BTD NM_000060.4(BTD): c.261C> T (p.Asn87=) single nucleotide variant Conflicting interpretations of pathogenicity rs147057169 GRCh37 Chromosome 3, 15677147: 15677147
294 BTD NM_000060.4(BTD): c.261C> T (p.Asn87=) single nucleotide variant Conflicting interpretations of pathogenicity rs147057169 GRCh38 Chromosome 3, 15635640: 15635640
295 BTD NM_000060.4(BTD): c.-88C> T single nucleotide variant Uncertain significance rs774964227 GRCh38 Chromosome 3, 15601763: 15601763
296 BTD NM_000060.4(BTD): c.-88C> T single nucleotide variant Uncertain significance rs774964227 GRCh37 Chromosome 3, 15643270: 15643270
297 BTD NM_000060.4(BTD): c.-45C> T single nucleotide variant Uncertain significance rs184480128 GRCh38 Chromosome 3, 15601806: 15601806
298 BTD NM_000060.4(BTD): c.-45C> T single nucleotide variant Uncertain significance rs184480128 GRCh37 Chromosome 3, 15643313: 15643313
299 BTD NM_000060.4(BTD): c.1103A> C (p.Asp368Ala) single nucleotide variant Uncertain significance rs886058115 GRCh38 Chromosome 3, 15644959: 15644959
300 BTD NM_000060.4(BTD): c.1103A> C (p.Asp368Ala) single nucleotide variant Uncertain significance rs886058115 GRCh37 Chromosome 3, 15686466: 15686466
301 BTD NM_000060.4(BTD): c.1487T> C (p.Phe496Ser) single nucleotide variant Uncertain significance rs886058117 GRCh37 Chromosome 3, 15686850: 15686850
302 BTD NM_000060.4(BTD): c.1487T> C (p.Phe496Ser) single nucleotide variant Uncertain significance rs886058117 GRCh38 Chromosome 3, 15645343: 15645343
303 BTD NM_000060.4(BTD): c.*57T> A single nucleotide variant Uncertain significance rs886058118 GRCh38 Chromosome 3, 15645545: 15645545
304 BTD NM_000060.4(BTD): c.*57T> A single nucleotide variant Uncertain significance rs886058118 GRCh37 Chromosome 3, 15687052: 15687052
305 BTD NM_000060.4(BTD): c.*211G> A single nucleotide variant Uncertain significance rs78601074 GRCh38 Chromosome 3, 15645699: 15645699
306 BTD NM_000060.4(BTD): c.*211G> A single nucleotide variant Uncertain significance rs78601074 GRCh37 Chromosome 3, 15687206: 15687206
307 BTD NM_000060.4(BTD): c.108C> T (p.Tyr36=) single nucleotide variant Uncertain significance rs201823743 GRCh38 Chromosome 3, 15635487: 15635487
308 BTD NM_000060.4(BTD): c.108C> T (p.Tyr36=) single nucleotide variant Uncertain significance rs201823743 GRCh37 Chromosome 3, 15676994: 15676994
309 BTD NM_000060.4(BTD): c.907C> T (p.His303Tyr) single nucleotide variant Uncertain significance rs144084212 GRCh38 Chromosome 3, 15644763: 15644763
310 BTD NM_000060.4(BTD): c.907C> T (p.His303Tyr) single nucleotide variant Uncertain significance rs144084212 GRCh37 Chromosome 3, 15686270: 15686270
311 BTD NM_000060.4(BTD): c.1285G> A (p.Glu429Lys) single nucleotide variant Uncertain significance rs770633850 GRCh38 Chromosome 3, 15645141: 15645141
312 BTD NM_000060.4(BTD): c.1285G> A (p.Glu429Lys) single nucleotide variant Uncertain significance rs770633850 GRCh37 Chromosome 3, 15686648: 15686648
313 BTD NM_000060.4(BTD): c.-27G> T single nucleotide variant Uncertain significance rs755119589 GRCh38 Chromosome 3, 15601824: 15601824
314 BTD NM_000060.4(BTD): c.-27G> T single nucleotide variant Uncertain significance rs755119589 GRCh37 Chromosome 3, 15643331: 15643331
315 BTD NM_000060.4(BTD): c.-5G> T single nucleotide variant Uncertain significance rs199516128 GRCh38 Chromosome 3, 15601846: 15601846
316 BTD NM_000060.4(BTD): c.-5G> T single nucleotide variant Uncertain significance rs199516128 GRCh37 Chromosome 3, 15643353: 15643353
317 BTD NM_000060.4(BTD): c.196C> A (p.Pro66Thr) single nucleotide variant Uncertain significance rs778785164 GRCh38 Chromosome 3, 15635575: 15635575
318 BTD NM_000060.4(BTD): c.196C> A (p.Pro66Thr) single nucleotide variant Uncertain significance rs778785164 GRCh37 Chromosome 3, 15677082: 15677082
319 BTD NM_000060.4(BTD): c.200C> G (p.Ser67Cys) single nucleotide variant Uncertain significance rs747489101 GRCh38 Chromosome 3, 15635579: 15635579
320 BTD NM_000060.4(BTD): c.200C> G (p.Ser67Cys) single nucleotide variant Uncertain significance rs747489101 GRCh37 Chromosome 3, 15677086: 15677086
321 BTD NM_000060.4(BTD): c.1172C> T (p.Pro391Leu) single nucleotide variant Uncertain significance rs375239909 GRCh38 Chromosome 3, 15645028: 15645028
322 BTD NM_000060.4(BTD): c.1172C> T (p.Pro391Leu) single nucleotide variant Uncertain significance rs375239909 GRCh37 Chromosome 3, 15686535: 15686535
323 BTD NM_000060.4(BTD): c.1174C> T (p.Pro392Ser) single nucleotide variant Uncertain significance rs886058116 GRCh38 Chromosome 3, 15645030: 15645030
324 BTD NM_000060.4(BTD): c.1174C> T (p.Pro392Ser) single nucleotide variant Uncertain significance rs886058116 GRCh37 Chromosome 3, 15686537: 15686537
325 BTD NM_000060.4(BTD): c.1485C> A (p.Ile495=) single nucleotide variant Uncertain significance rs780182371 GRCh38 Chromosome 3, 15645341: 15645341
326 BTD NM_000060.4(BTD): c.1485C> A (p.Ile495=) single nucleotide variant Uncertain significance rs780182371 GRCh37 Chromosome 3, 15686848: 15686848
327 BTD NM_000060.4(BTD): c.43A> T (p.Arg15Ter) single nucleotide variant Likely pathogenic rs143058480 GRCh38 Chromosome 3, 15601893: 15601893
328 BTD NM_000060.4(BTD): c.43A> T (p.Arg15Ter) single nucleotide variant Likely pathogenic rs143058480 GRCh37 Chromosome 3, 15643400: 15643400
329 BTD NM_000060.4(BTD): c.44+1G> A single nucleotide variant Likely pathogenic rs1057516440 GRCh38 Chromosome 3, 15601895: 15601895
330 BTD NM_000060.4(BTD): c.44+1G> A single nucleotide variant Likely pathogenic rs1057516440 GRCh37 Chromosome 3, 15643402: 15643402
331 BTD NM_000060.4(BTD): c.44+1G> C single nucleotide variant Likely pathogenic rs1057516440 GRCh38 Chromosome 3, 15601895: 15601895
332 BTD NM_000060.4(BTD): c.44+1G> C single nucleotide variant Likely pathogenic rs1057516440 GRCh37 Chromosome 3, 15643402: 15643402
333 BTD NM_000060.4(BTD): c.44+1G> T single nucleotide variant Likely pathogenic rs1057516440 GRCh37 Chromosome 3, 15643402: 15643402
334 BTD NM_000060.4(BTD): c.44+1G> T single nucleotide variant Likely pathogenic rs1057516440 GRCh38 Chromosome 3, 15601895: 15601895
335 BTD NM_000060.4(BTD): c.44+1delG deletion Likely pathogenic rs1057517114 GRCh37 Chromosome 3, 15643402: 15643402
336 BTD NM_000060.4(BTD): c.44+1delG deletion Likely pathogenic rs1057517114 GRCh38 Chromosome 3, 15601895: 15601895
337 BTD NM_000060.4(BTD): c.107dupA (p.Tyr36Terfs) duplication Likely pathogenic rs1057516812 GRCh37 Chromosome 3, 15676993: 15676993
338 BTD NM_000060.4(BTD): c.107dupA (p.Tyr36Terfs) duplication Likely pathogenic rs1057516812 GRCh38 Chromosome 3, 15635486: 15635486
339 BTD NM_000060.4(BTD): c.309+1G> T single nucleotide variant Likely pathogenic rs373249212 GRCh38 Chromosome 3, 15635689: 15635689
340 BTD NM_000060.4(BTD): c.309+1G> T single nucleotide variant Likely pathogenic rs373249212 GRCh37 Chromosome 3, 15677196: 15677196
341 BTD NM_000060.4(BTD): c.372_375dupCATT (p.Tyr126Hisfs) duplication Likely pathogenic rs1057516223 GRCh38 Chromosome 3, 15641970: 15641973
342 BTD NM_000060.4(BTD): c.372_375dupCATT (p.Tyr126Hisfs) duplication Likely pathogenic rs1057516223 GRCh37 Chromosome 3, 15683477: 15683480
343 BTD NM_000060.4(BTD): c.1129G> T (p.Glu377Ter) single nucleotide variant Likely pathogenic rs1057516252 GRCh38 Chromosome 3, 15644985: 15644985
344 BTD NM_000060.4(BTD): c.1129G> T (p.Glu377Ter) single nucleotide variant Likely pathogenic rs1057516252 GRCh37 Chromosome 3, 15686492: 15686492
345 BTD NM_000060.4(BTD): c.1170_1171dupTC (p.Pro391Leufs) duplication Likely pathogenic rs1057517256 GRCh38 Chromosome 3, 15645026: 15645027
346 BTD NM_000060.4(BTD): c.1170_1171dupTC (p.Pro391Leufs) duplication Likely pathogenic rs1057517256 GRCh37 Chromosome 3, 15686533: 15686534
347 BTD NM_000060.4(BTD): c.1307_1308delAG (p.Glu436Alafs) deletion Likely pathogenic rs1057517225 GRCh38 Chromosome 3, 15645163: 15645164
348 BTD NM_000060.4(BTD): c.1307_1308delAG (p.Glu436Alafs) deletion Likely pathogenic rs1057517225 GRCh37 Chromosome 3, 15686670: 15686671
349 BTD NM_000060.4(BTD): c.1324delG (p.Val442Serfs) deletion Likely pathogenic rs1057517362 GRCh38 Chromosome 3, 15645180: 15645180
350 BTD NM_000060.4(BTD): c.1324delG (p.Val442Serfs) deletion Likely pathogenic rs1057517362 GRCh37 Chromosome 3, 15686687: 15686687
351 BTD NM_000060.4(BTD): c.605A> G (p.Asn202Ser) single nucleotide variant Uncertain significance rs397514376 GRCh38 Chromosome 3, 15644461: 15644461
352 BTD NM_000060.4(BTD): c.605A> G (p.Asn202Ser) single nucleotide variant Uncertain significance rs397514376 GRCh37 Chromosome 3, 15685968: 15685968
353 BTD NM_000060.4(BTD): c.625C> T (p.Arg209Cys) single nucleotide variant Uncertain significance rs369102875 GRCh38 Chromosome 3, 15644481: 15644481
354 BTD NM_000060.4(BTD): c.625C> T (p.Arg209Cys) single nucleotide variant Uncertain significance rs369102875 GRCh37 Chromosome 3, 15685988: 15685988
355 BTD NM_000060.4(BTD): c.541A> G (p.Ser181Gly) single nucleotide variant Uncertain significance rs541012569 GRCh38 Chromosome 3, 15644397: 15644397
356 BTD NM_000060.4(BTD): c.541A> G (p.Ser181Gly) single nucleotide variant Uncertain significance rs541012569 GRCh37 Chromosome 3, 15685904: 15685904
357 BTD NM_000060.4(BTD): c.1361A> G (p.Tyr454Cys) single nucleotide variant Uncertain significance rs397514345 GRCh38 Chromosome 3, 15645217: 15645217
358 BTD NM_000060.4(BTD): c.1361A> G (p.Tyr454Cys) single nucleotide variant Uncertain significance rs397514345 GRCh37 Chromosome 3, 15686724: 15686724
359 BTD NM_000060.4(BTD): c.202A> G (p.Ile68Val) single nucleotide variant Benign rs114092911 GRCh38 Chromosome 3, 15635581: 15635581
360 BTD NM_000060.4(BTD): c.202A> G (p.Ile68Val) single nucleotide variant Benign rs114092911 GRCh37 Chromosome 3, 15677088: 15677088
361 BTD NM_000060.4(BTD): c.587del (p.Thr196Lysfs) deletion Pathogenic GRCh37 Chromosome 3, 15685950: 15685950
362 BTD NM_000060.4(BTD): c.587del (p.Thr196Lysfs) deletion Pathogenic GRCh38 Chromosome 3, 15644443: 15644443
363 BTD NM_000060.4(BTD): c.1516C> T (p.Leu506=) single nucleotide variant Likely benign rs774018881 GRCh37 Chromosome 3, 15686879: 15686879
364 BTD NM_000060.4(BTD): c.1516C> T (p.Leu506=) single nucleotide variant Likely benign rs774018881 GRCh38 Chromosome 3, 15645372: 15645372
Sources

Expression for Biotinidase Deficiency

About this section
Search GEO for disease gene expression data for Biotinidase Deficiency.
Sources

Pathways for Biotinidase Deficiency

About this section

Pathways related to Biotinidase Deficiency according to KEGG:

37 (showing 2, show less)
# Name Kegg Source Accession
1 Biotin metabolism hsa00780
2 Vitamin digestion and absorption hsa04977

Pathways related to Biotinidase Deficiency according to GeneCards Suite gene sharing:

(showing 6, show less)
# Super pathways Score Top Affiliating Genes
1
Metabolism 66
Show member pathways
 13.37 BTD HACL1 HLCS LPL MCCC2 PCCB
2
Metabolism of water-soluble vitamins and cofactors 66
Show member pathways
 11.63 BTD HLCS LPL MCCC2 PCCB
3
Valine, leucine and isoleucine degradation 37
Show member pathways
 11.44 MCCC2 PCCB
4
Diseases of metabolism 66
Show member pathways
 11.29 MCCC2 PCCB
5
Defects in biotin (Btn) metabolism 66
Show member pathways
 10.23 MCCC2 PCCB
6
Biotin metabolism 37
9.43 BTD HLCS
Sources

GO Terms for Biotinidase Deficiency

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Cellular components related to Biotinidase Deficiency according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 8.8 BTD MCCC2 PCCB

Biological processes related to Biotinidase Deficiency according to GeneCards Suite gene sharing:

(showing 3, show less)
# Name GO ID Score Top Affiliating Genes
1 response to glucose GO:0009749 9.16 EIF2B4 LPL
2 fatty acid biosynthetic process GO:0006633 8.96 LPL PCCB
3 biotin metabolic process GO:0006768 8.92 BTD HLCS MCCC2 PCCB

Molecular functions related to Biotinidase Deficiency according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 ligase activity GO:0016874 8.8 HLCS MCCC2 PCCB
Sources

Sources for Biotinidase Deficiency

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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