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Parent Node:
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Multiple Carboxylase Deficiency (D009100)
..Starting node
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Biotinidase Deficiency (D028921)

       Child Nodes:
........expandBiotin deficiency (C531633)



 Sister Nodes: 
..expandBiotinidase Deficiency (D028921) Child1
..expandHolocarboxylase Synthetase Deficiency (D028922)
..expandMultiple Carboxylase Deficiency, Juvenile-Onset (C565365)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:1366
Name:Biotinidase Deficiency
Definition:The late onset form of MULTIPLE CARBOXYLASE DEFICIENCY (deficiency of the activities of biotin-dependent enzymes propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to a defect or deficiency in biotinidase which is essential for recycling BIOTIN.
Alternative IDs:DO:DOID:856|OMIM:253260
ParentIDs:MESH:D009100
TreeNumbers:C16.320.565.100.620.100 |C16.320.565.202.720.100 |C18.452.648.100.620.100 |C18.452.648.202.720.100
Synonyms:Biotinidase Deficiencies |BTD Deficiencies |BTD Deficiency |Carboxylase Deficiency, Multiple, Late-Onset |Deficiencies, Biotinidase |Deficiencies, BTD |Deficiency, Biotinidase |Deficiency, BTD |Deficiency, Multiple Carboxylase, Late-Onset |Late Onset Biotin Respo
Slim Mappings:Genetic disease (inborn)|Metabolic disease
Reference: MedGen: D028921
MeSH: D028921
OMIM: 253260;
MSeqDR LSDB:  
Genes: BTD;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001596Alopecia
3 HP:0002104Apnea
4 HP:0001251Ataxia
5 HP:0000509Conjunctivitis
6 HP:0410145Decreased biotinidase activity
7 HP:0002014Diarrhea
8 HP:0100275Diffuse cerebellar atrophy
9 HP:0002506Diffuse cerebral atrophy
10 HP:0008872Feeding difficulties in infancy
11 HP:0001290Generalized hypotonia
12 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
13 HP:0001263Global developmental delay
NAMDC:  Mental retardation
14 HP:0002240Hepatomegaly
15 HP:0001987Hyperammonemia
16 HP:0001254Lethargy
17 HP:0005979Metabolic ketoacidosis
18 HP:0001252Muscular hypotonia
NAMDC:  Hypotonia
19 HP:0000648Optic atrophy
20 HP:0001992Organic aciduria
21 HP:0001581Recurrent skin infections
22 HP:0001051Seborrheic dermatitis
23 HP:0001250Seizures
NAMDC:  Seizures
24 HP:0000407Sensorineural hearing impairment
NAMDC:  Sensorineural hearing loss
25 HP:0000988Skin rash
26 HP:0001744Splenomegaly
27 HP:0002789Tachypnea
28 HP:0000572Visual loss
29 HP:0002013Vomiting
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001370658.1(BTD):c.-148C>T686BTDConflicting interpretations of pathogenicityrs774964227RCV000380207|RCV001354666; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN51720231564327015643270CT3:g.15643270C>TClinGen:CA2277149
NM_001370658.1(BTD):c.-105C>T686BTDUncertain significancers184480128RCV000285810; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131564331315643313CT3:g.15643313C>TClinGen:CA2277158
NM_001370658.1(BTD):c.-94C>T686BTDBenign/Likely benignrs114567021RCV000022029|RCV000313163|RCV000755227; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN169374|MedGen:CN51720231564332415643324CT3:g.15643324C>TClinGen:CA278363C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.-87G>T686BTDUncertain significancers755119589RCV000381441; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131564333115643331GT3:g.15643331G>TClinGen:CA2277164
NC_000003.12:g.(?_15601831)_(15601914_?)del686BTDPathogenic-1RCV001033806; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131564333815643421nana-1-
NM_001370658.1(BTD):c.-74G>A686BTDUncertain significancers200884349RCV000664987; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131564334415643344GA3:g.15643344G>A-C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.-65G>T686BTDUncertain significancers199516128RCV000291779; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131564335315643353GT3:g.15643353G>TClinGen:CA2277172
NM_001370658.1(BTD):c.-60A>G686BTDUncertain significancers1553646820RCV000674979; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131564335815643358AG3:g.15643358A>G-C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.-59T>A686BTDUncertain significancers768258310RCV000667774; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131564335915643359TA3:g.15643359T>A-C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.-59T>C686BTDUncertain significancers768258310RCV000674871; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131564335915643359TC3:g.15643359T>C-C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.-58G>A686BTDUncertain significancers1553646827RCV000670834; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131564336015643360GA3:g.15643360G>A-C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.-46T>C686BTDLikely benign-1RCV001408355; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131564337215643372TC15643372-
NM_001370658.1(BTD):c.-45A>T686BTDUncertain significancers540641302RCV001280041; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131564337315643373AT3:g.15643373A>T-
NM_001370658.1(BTD):c.-38G>A686BTDUncertain significancers138473616RCV001217923; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131564338015643380GA3:g.15643380G>A-
NM_001370658.1(BTD):c.-28C>T686BTDLikely benign-1RCV001450450; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131564339015643390CT15643390-
NM_001370658.1(BTD):c.-22G>A686BTDLikely benign-1RCV001410239; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131564339615643396GA15643396-
NM_001370658.1(BTD):c.-18A>T686BTDLikely pathogenicrs143058480RCV000411121; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131564340015643400AT3:g.15643400A>TClinGen:CA16040904
NM_001370658.1(BTD):c.-17_-17+3del686BTDLikely pathogenicrs1050514843RCV000667343; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131564340015643403CAGGTC3:g.15643400_15643403del-C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.-18del686BTDPathogenicrs2064260290RCV000794161; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131564340015643400CAC3:g.15643400_15643400del-
NM_001370658.1(BTD):c.-17+1del686BTDLikely pathogenicrs1057517114RCV000412426; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131564340115643401AGA3:g.15643401_15643401delClinGen:CA16040908
NM_001370658.1(BTD):c.-17+1G>A686BTDLikely pathogenicrs1057516440RCV000409752; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131564340215643402GA3:g.15643402G>AClinGen:CA16040905
NM_001370658.1(BTD):c.-17+1G>C686BTDLikely pathogenicrs1057516440RCV000410337; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131564340215643402GC3:g.15643402G>CClinGen:CA16040906
NM_001370658.1(BTD):c.-17+1G>T686BTDLikely pathogenicrs1057516440RCV000411884; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131564340215643402GT3:g.15643402G>TClinGen:CA16040907C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.-17+2T>C686BTDLikely pathogenic-1RCV001379913; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131564340315643403TC15643403-
NM_001370658.1(BTD):c.-17+7A>C686BTDLikely benign-1RCV001451705; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131564340815643408AC15643408-
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs)686BTDPathogenicrs80338684RCV000001972|RCV000078084; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN51720231567698415676990GCGGCTGTCC3:g.15676985_15676990delOMIM:609019.0001,ClinGen:CA285306C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.38G>T (p.Cys13Phe)686BTDUncertain significancers141131444RCV000987126|RCV000998006; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN51720231567698415676984GT3:g.15676984G>T-
NM_001370658.1(BTD):c.39C>T (p.Cys13=)686BTDLikely benignrs201564216RCV000021887; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131567698515676985CT3:g.15676985C>TClinGen:CA278143C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser)686BTDConflicting interpretations of pathogenicityrs119103232RCV000001976; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131567698615676986GA3:g.15676986G>AClinGen:CA278010,OMIM:609019.0004C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.41_44del (p.Gly14fs)686BTDConflicting interpretations of pathogenicityrs1249246307RCV000778682|RCV001090471; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN51720231567698615676989CGGCTC3:g.15676986_15676989del-
NM_001370658.1(BTD):c.44_45del (p.Cys15fs)686BTDPathogenicrs750965140RCV000987128; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131567698915676990CTGC3:g.15676989_15676990del-
NM_001370658.1(BTD):c.47dup (p.Tyr16Ter)686BTDLikely pathogenicrs1057516812RCV000411926; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131567699215676993TTA3:g.15676992_15676993insAClinGen:CA16040909C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.48C>T (p.Tyr16=)686BTDConflicting interpretations of pathogenicityrs201823743RCV000346716; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131567699415676994CT3:g.15676994C>TClinGen:CA2277241
NM_001370658.1(BTD):c.56_59dup (p.Gly21fs)686BTDPathogenic-1RCV001389326; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131567700115677002GGCCCT15677001-
NM_001370658.1(BTD):c.58_59del (p.Leu20fs)686BTDLikely pathogenicrs1553652080RCV000664888; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131567700415677005CCTC3:g.15677004_15677005del-C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.68A>G (p.His23Arg)686BTDConflicting interpretations of pathogenicityrs146011150RCV000022030|RCV001251701; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0002122,Human Phen31567701415677014AG3:g.15677014A>GClinGen:CA278364C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.72C>T (p.Thr24=)686BTDLikely benign-1RCV001427843; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131567701815677018CT15677018-
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg)686BTDConflicting interpretations of pathogenicityrs34885143RCV000021888|RCV000185799|RCV000724323; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN169374|MedGen:CN51720231567701915677019GA3:g.15677019G>AClinGen:CA241269C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.81G>A (p.Glu27=)686BTDLikely benign-1RCV001491917; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131567702715677027GA15677027-
NM_001370658.1(BTD):c.123C>T (p.Ala41=)686BTDLikely benign-1RCV001442571; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131567706915677069CT15677069-
NM_001370658.1(BTD):c.124G>A (p.Val42Met)686BTDPathogenicrs397507170RCV000021895; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131567707015677070GA3:g.15677070G>AClinGen:CA278152
NM_001370658.1(BTD):c.132G>C (p.Glu44Asp)686BTDConflicting interpretations of pathogenicityrs397514436RCV000032017|RCV000506513; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN16937431567707815677078GC3:g.15677078G>CClinGen:CA278386
NM_001370658.1(BTD):c.142_145dup (p.Leu49fs)686BTDPathogenic/Likely pathogenicrs1205964567RCV000169475|RCV000759005; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN51720231567707815677079GGCATC3:g.15677078_15677079insCATCClinGen:CA278485C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.136C>A (p.Pro46Thr)686BTDUncertain significancers778785164RCV000394008; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131567708215677082CA3:g.15677082C>AClinGen:CA10617565
NM_001370658.1(BTD):c.140C>G (p.Ser47Cys)686BTDUncertain significancers747489101RCV000311192; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131567708615677086CG3:g.15677086C>GClinGen:CA2277258
NM_001370658.1(BTD):c.142A>G (p.Ile48Val)686BTDBenignrs114092911RCV000633686; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131567708815677088AG3:g.15677088A>GClinGen:CA2277259
NM_001370658.1(BTD):c.152T>C (p.Leu51Pro)686BTDConflicting interpretations of pathogenicityrs397514333RCV000021900|RCV000427971; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN16937431567709815677098TC3:g.15677098T>CClinGen:CA278161C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.175C>T (p.Arg59Cys)686BTDPathogenic/Likely pathogenicrs104893687RCV000001982; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131567712115677121CT3:g.15677121C>TClinGen:CA278016,OMIM:609019.0010C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.176G>A (p.Arg59His)686BTDConflicting interpretations of pathogenicityrs397514343RCV000021905; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131567712215677122GA3:g.15677122G>AClinGen:CA278166C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.179A>C (p.Gln60Pro)686BTDUncertain significancers2065326975RCV000814343; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131567712515677125AC3:g.15677125A>C-
NM_001370658.1(BTD):c.183G>A (p.Glu61=)686BTDLikely benign-1RCV001487131; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131567712915677129GA15677129-
NM_001370658.1(BTD):c.185C>T (p.Ala62Val)686BTDConflicting interpretations of pathogenicityrs397507171RCV000021907|RCV001171830|RCV001800312; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN517202|MedGen:CN16937431567713115677131CT3:g.15677131C>TClinGen:CA278170C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.188T>C (p.Leu63Ser)686BTDUncertain significancers397514347RCV000021909; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131567713415677134TC3:g.15677134T>CClinGen:CA278175C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.195C>T (p.Leu65=)686BTDUncertain significance-1RCV001559219; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131567714115677141CT15677141-
NM_001370658.1(BTD):c.197T>G (p.Met66Arg)686BTDPathogenicrs587783002RCV000144056; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131567714315677143TG3:g.15677143T>GClinGen:CA278433C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.201C>T (p.Asn67=)686BTDConflicting interpretations of pathogenicityrs147057169RCV000266987|RCV000633685|RCV000726430; NMedGen:CN169374|MONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN51720231567714715677147CT3:g.15677147C>TClinGen:CA2277271C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.202C>G (p.Gln68Glu)686BTDConflicting interpretations of pathogenicityrs151071780RCV000876680|RCV000755884; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN51720231567714815677148CG3:g.15677148C>GClinGen:CA2277272CN169374 not specified;
NM_001370658.1(BTD):c.203del (p.Gln68fs)686BTDPathogenicrs1575013953RCV000987129; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131567714915677149CAC3:g.15677149_15677149del-
NM_001370658.1(BTD):c.204G>A (p.Gln68=)686BTDLikely benignrs781457122RCV000940931|RCV001480987; NMedGen:CN517202|MONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131567715015677150GA3:g.15677150G>A-
NM_001370658.1(BTD):c.218A>G (p.Tyr73Cys)686BTDPathogenic/Likely pathogenicrs397514348RCV000021911; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131567716415677164AG3:g.15677164A>GClinGen:CA278179C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.225G>A (p.Gln75=)686BTDLikely benign-1RCV001503413; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131567717115677171GA15677171-
NM_001370658.1(BTD):c.239C>T (p.Ala80Val)686BTDUncertain significancers1553652171RCV000673777; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131567718515677185CT3:g.15677185C>T-C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.249+1G>T686BTDLikely pathogenicrs373249212RCV000409760; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131567719615677196GT3:g.15677196G>TClinGen:CA2277279
NM_001370658.1(BTD):c.249+1G>A686BTDPathogenicrs373249212RCV001195863; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131567719615677196GA3:g.15677196G>A-
NM_001370658.1(BTD):c.249+5G>T686BTDUncertain significancers2065329555RCV001316905; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131567720015677200GT15677200-
NM_001370658.1(BTD):c.250-15del686BTDConflicting interpretations of pathogenicityrs587783008RCV000144063; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568340015683400ATANC_000003.11:g.15683400delTClinGen:CA278444C0220754 253260 Biotinidase deficiency;
NC_000003.11:g.(?_15683405)_(15687154_?)del686BTDPathogenic-1RCV001385260; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568340515687154nana-1-
NM_001370658.1(BTD):c.250-1G>T686BTDLikely pathogenicrs1553653053RCV000666795; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568341415683414GT3:g.15683414G>T-C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.252T>C (p.Asp84=)686BTDLikely benignrs138545268RCV000897832; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568341715683417TC3:g.15683417T>C-
NM_001370658.1(BTD):c.255A>C (p.Val85=)686BTDLikely benign-1RCV001476050; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568342015683420AC15683420-
NM_001370658.1(BTD):c.256C>T (p.Gln86Ter)686BTDLikely pathogenicrs1553653062RCV000669656; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568342115683421CT3:g.15683421C>T-C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.261T>G (p.Ile87Met)686BTDUncertain significancers1024847163RCV000672725; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568342615683426TG3:g.15683426T>G-C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.262A>G (p.Ile88Val)686BTDLikely pathogenicrs976185636RCV000987130; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568342715683427AG3:g.15683427A>G-
NM_001370658.1(BTD):c.271C>G (p.Pro91Ala)686BTDUncertain significancers1553653070RCV000507334|RCV001348854; NMedGen:CN169374|MONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568343615683436CG3:g.15683436C>GClinGen:CA351605101CN169374 not specified;
NM_001370658.1(BTD):c.274G>C (p.Glu92Gln)686BTDLikely pathogenicrs397514352RCV000021916|RCV000759006; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN51720231568343915683439GC3:g.15683439G>CClinGen:CA278187C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.281G>T (p.Gly94Val)686BTDPathogenic/Likely pathogenicrs375712490RCV000021918|RCV000759007; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN51720231568344615683446GT3:g.15683446G>TClinGen:CA278191C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.282del (p.Ile95fs)686BTDPathogenicrs2065521862RCV001203912; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568344715683447GCG3:g.15683447_15683447del-
NM_001370658.1(BTD):c.288T>C (p.His96=)686BTDLikely benign-1RCV001480183; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568345315683453TC15683453-
NM_001370658.1(BTD):c.296A>G (p.Asn99Ser)686BTDUncertain significancers397514353RCV000021919; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568346115683461AG3:g.15683461A>GClinGen:CA278193C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.304A>G (p.Arg102Gly)686BTDUncertain significancers397514354RCV000021920|RCV000755882; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN51720231568346915683469AG3:g.15683469A>GClinGen:CA278195
NM_001370658.1(BTD):c.312_315dup (p.Tyr106fs)686BTDLikely pathogenicrs1057516223RCV000410710; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568347615683477CCCATT3:g.15683476_15683477insCATTClinGen:CA16040910
NM_001370658.1(BTD):c.333del (p.Phe111fs)686BTDLikely pathogenicrs397514356RCV000021922; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568349815683498TCT3:g.15683498_15683498del-
NM_001370658.1(BTD):c.339G>A (p.Pro113=)686BTDConflicting interpretations of pathogenicityrs181743799RCV000176974|RCV000714993; NMedGen:CN517202|MONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568350415683504GA3:g.15683504G>AClinGen:CA243087CN169374 not specified;
NM_001370658.1(BTD):c.345C>T (p.Pro115=)686BTDLikely benign-1RCV001405989; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568351015683510CT15683510-
NM_001370658.1(BTD):c.357G>A (p.Arg119=)686BTDLikely benign-1RCV001405282; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568352215683522GA15683522-
NM_001370658.1(BTD):c.359G>A (p.Trp120Ter)686BTDPathogenic-1RCV001381017; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568352415683524GA15683524-
NM_001370658.1(BTD):c.360G>A (p.Trp120Ter)686BTDLikely pathogenicrs1306944669RCV000672734; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568352515683525GA3:g.15683525G>A-C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.364C>A (p.Pro122Thr)686BTDConflicting interpretations of pathogenicityrs397514357RCV000021923|RCV000438885|RCV001266904; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN517202|MeSH:D030342,MedGen:C095012331568352915683529CA3:g.15683529C>AClinGen:CA278199C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.382C>T (p.Arg128Cys)686BTDLikely pathogenicrs137877018RCV000414058|RCV000675064; NMedGen:CN517202|MONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568354715683547CT3:g.15683547C>TClinGen:CA2277309C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.382C>G (p.Arg128Gly)686BTDUncertain significancers137877018RCV001313934; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568354715683547CG15683547-
NM_001370658.1(BTD):c.383G>A (p.Arg128His)686BTDLikely pathogenicrs367902696RCV000021924|RCV000490188; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN51720231568354815683548GA3:g.15683548G>AClinGen:CA278201C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.385T>C (p.Phe129Leu)686BTDUncertain significancers397514359RCV000021926; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568355015683550TC3:g.15683550T>CClinGen:CA278206C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.395C>G (p.Thr132Arg)686BTDLikely pathogenicrs587783003RCV000144057|RCV000985647; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN51720231568356015683560CG3:g.15683560C>GClinGen:CA278435C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.399G>A (p.Glu133=)686BTDPathogenic/Likely pathogenicrs397514360RCV000021928|RCV000425369; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN51720231568356415683564GA3:g.15683564G>AClinGen:CA278210C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.399+8del686BTDLikely benign-1RCV001465188; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568357115683571TCT15683570-
NM_001370658.1(BTD):c.400-8dup686BTDConflicting interpretations of pathogenicityrs397514361RCV000021929|RCV000178030; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN51720231568580815685809CCT3:g.15685808_15685809insTClinGen:CA245052C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.400-8T>C686BTDLikely benign-1RCV001402130; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568581515685815TC15685815-
NM_001370658.1(BTD):c.400-6C>T686BTDLikely benign-1RCV001491305; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568581715685817CT15685817-
NM_001370658.1(BTD):c.400-4C>T686BTDLikely benign-1RCV001396349; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568581915685819CT15685819-
NM_001370658.1(BTD):c.406C>T (p.Gln136Ter)686BTDPathogenicrs397514362RCV000021930; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568582915685829CT3:g.15685829C>TClinGen:CA278213C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.409C>T (p.Arg137Cys)686BTDPathogenic/Likely pathogenicrs397514363RCV000021931|RCV000414201; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN51720231568583215685832CT3:g.15685832C>TClinGen:CA278215C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.410G>A (p.Arg137His)686BTDPathogenicrs146015592RCV000021904|RCV000078072; YMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN51720231568583315685833GA3:g.15685833G>AClinGen:CA220323C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.411C>T (p.Arg137=)686BTDLikely benign-1RCV001455619; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568583415685834CT15685834-
NM_001370658.1(BTD):c.416G>A (p.Ser139Asn)686BTDLikely pathogenic-1RCV001619776; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568583915685839GA15685839-
NM_001370658.1(BTD):c.417T>C (p.Ser139=)686BTDLikely benign-1RCV001429680; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568584015685840TC15685840-
NM_001370658.1(BTD):c.419G>T (p.Cys140Phe)686BTDLikely pathogenicrs745343884RCV000693060; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568584215685842GT3:g.15685842G>T-
NM_001370658.1(BTD):c.425C>T (p.Ala142Val)686BTDUncertain significancers397514364RCV000021934; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568584815685848CT3:g.15685848C>TClinGen:CA278217C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.429C>T (p.Ile143=)686BTDLikely benign-1RCV001506788; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568585215685852CT15685852-
NM_001370658.1(BTD):c.430A>C (p.Arg144=)686BTDLikely benign-1RCV001488468; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568585315685853AC15685853-
NM_001370658.1(BTD):c.435A>T (p.Gly145=)686BTDLikely benign-1RCV001449474; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568585815685858AT15685858-
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr)686BTDConflicting interpretations of pathogenicityrs13073139RCV000031859|RCV000078073; YMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN51720231568587415685874GA3:g.15685874G>AClinVar:25016,UniProtKB:P43251#VAR_005114,OMIM:609019.0005,ClinGen:CA285305C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.455A>G (p.Asn152Ser)686BTDUncertain significancers397514366RCV000021937; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568587815685878AG3:g.15685878A>GClinGen:CA278220C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn)686BTDPathogenicrs397514367RCV000021938|RCV000078074|RCV000623242; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN517202|MeSH:D030342,MedGen:C095012331568589115685891GT3:g.15685891G>TClinGen:CA220325C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.481A>G (p.Ser161Gly)686BTDUncertain significancers541012569RCV000532215; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568590415685904AG3:g.15685904A>GClinGen:CA2277340C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.496T>G (p.Cys166Gly)686BTDLikely pathogenicrs955385869RCV000987131; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568591915685919TG3:g.15685919T>G-
NM_001370658.1(BTD):c.496T>C (p.Cys166Arg)686BTDUncertain significancers955385869RCV001299844; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568591915685919TC15685919-
NM_001370658.1(BTD):c.497G>A (p.Cys166Tyr)686BTDPathogenic/Likely pathogenicrs397514369RCV000021940|RCV000790752; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN51720231568592015685920GA3:g.15685920G>AClinGen:CA220327
NM_001370658.1(BTD):c.498C>G (p.Cys166Trp)686BTDUncertain significance-1RCV001580645; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568592115685921CG15685921-
NM_001370658.1(BTD):c.522C>G (p.Phe174Leu)686BTDUncertain significancers750363004RCV000714997; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568594515685945CG3:g.15685945C>G-
NM_001370658.1(BTD):c.522C>T (p.Phe174=)686BTDLikely benign-1RCV001408670; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568594515685945CT15685945-
NM_001370658.1(BTD):c.523A>G (p.Asn175Asp)686BTDConflicting interpretations of pathogenicityrs397514370RCV000021942|RCV000727575; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN51720231568594615685946AG3:g.15685946A>GClinGen:CA278225C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.525C>T (p.Asn175=)686BTDLikely benign-1RCV001445587; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568594815685948CT15685948-
NM_001370658.1(BTD):c.527del (p.Thr176fs)686BTDPathogenic/Likely pathogenicrs1553653680RCV000633683; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568595015685950ACA3:g.15685950_15685950delClinGen:CA658796245C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.528_542del (p.Val178_Asn182del)686BTDLikely pathogenicrs1575029290RCV001030027; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568595115685965CAAATGTCGTGTTCAGC3:g.15685951_15685965del-
NM_001370658.1(BTD):c.535G>A (p.Val179Met)686BTDPathogenic/Likely pathogenicrs397514375RCV000021947|RCV000985649; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN51720231568595815685958GA3:g.15685958G>AClinGen:CA278235C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.545A>G (p.Asn182Ser)686BTDUncertain significancers397514376RCV000556792; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568596815685968AG3:g.15685968A>GClinGen:CA2277347C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.557TTG[1] (p.Val187del)686BTDUncertain significancers1553653699RCV000675038; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568598015685982CTTGC3:g.15685980_15685982del-C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys)686BTDConflicting interpretations of pathogenicityrs369102875RCV000537387|RCV001591206|RCV001778993; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN517202|MedGen:CN16937431568598815685988CT3:g.15685988C>TClinGen:CA2277351
NM_001370658.1(BTD):c.566G>A (p.Arg189His)686BTDPathogenicrs398123139RCV000144058|RCV000185803|RCV000507456; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN169374|MedGen:CN51720231568598915685989GA3:g.15685989G>AClinGen:CA220329C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.569A>G (p.Tyr190Cys)686BTDLikely pathogenicrs397507174RCV000021949|RCV000724129; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN51720231568599215685992AG3:g.15685992A>GClinGen:CA278239C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.571C>T (p.Arg191Cys)686BTDPathogenicrs372844636RCV000021950|RCV000508413; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN51720231568599415685994CT3:g.15685994C>TClinGen:CA278241C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.572G>A (p.Arg191His)686BTDConflicting interpretations of pathogenicityrs112195009RCV000021951|RCV000078077; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN51720231568599515685995GA3:g.15685995G>AClinGen:CA220331C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.577del (p.His193fs)686BTDLikely pathogenicrs780874850RCV000721974; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568600015686000ACA3:g.15686000_15686000del-
NM_001370658.1(BTD):c.581A>G (p.Asn194Ser)686BTDUncertain significancers397514377RCV000032022|RCV000520641; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN51720231568600415686004AG3:g.15686004A>GClinGen:CA278395C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.583C>T (p.Leu195Phe)686BTDPathogenicrs190386869RCV000021953; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568600615686006CT3:g.15686006C>TClinGen:CA278243C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.585C>T (p.Leu195=)686BTDConflicting interpretations of pathogenicityrs145388314RCV000021954|RCV000078078|RCV000755881; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN169374|MedGen:CN51720231568600815686008CT3:g.15686008C>TClinGen:CA145713C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.589_591delinsAGTA (p.Phe197fs)686BTDLikely pathogenicrs1553653732RCV000673413; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568601215686014TTTAGTA3:g.15686012_15686013insGTA-C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.600A>G (p.Ala200=)686BTDLikely benign-1RCV001416749; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568602315686023AG15686023-
NM_001370658.1(BTD):c.603C>T (p.Phe201=)686BTDLikely benignrs142418812RCV000895094; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568602615686026CT3:g.15686026C>T-
NM_001370658.1(BTD):c.604G>A (p.Asp202Asn)686BTDConflicting interpretations of pathogenicityrs200337373RCV000420327|RCV000675128|RCV001251699|RCV001731677; NMedGen:CN517202|MONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0031568602715686027GA3:g.15686027G>AClinGen:CA2277359C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.616A>G (p.Lys206Glu)686BTDUncertain significancers1003975438RCV001280042; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568603915686039AG3:g.15686039A>G-
NM_001370658.1(BTD):c.623A>G (p.Asp208Gly)686BTDPathogenicrs587783004RCV000144059; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568604615686046AG3:g.15686046A>GClinGen:CA278437C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile)686BTDPathogenic/Likely pathogenicrs587783005RCV000144060; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568606415686064CT3:g.15686064C>TClinGen:CA278439C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.645C>A (p.Pro215=)686BTDLikely benignrs140769832RCV000877401; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568606815686068CA3:g.15686068C>A-
NM_001370658.1(BTD):c.649G>A (p.Ala217Thr)686BTDUncertain significancers397514381RCV000021958; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568607215686072GA3:g.15686072G>AClinGen:CA278250C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.653G>C (p.Gly218Ala)686BTDUncertain significancers144901367RCV000506608|RCV001234656; NMedGen:CN169374|MONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568607615686076GC3:g.15686076G>CClinGen:CA2277365CN169374 not specified;
NM_001370658.1(BTD):c.669C>T (p.Phe223=)686BTDLikely benign-1RCV001456071; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568609215686092CT15686092-
NM_001370658.1(BTD):c.672A>G (p.Thr224=)686BTDLikely benign-1RCV001447457; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568609515686095AG15686095-
NM_001370658.1(BTD):c.674G>A (p.Cys225Tyr)686BTDConflicting interpretations of pathogenicityrs397507175RCV000021959|RCV000724643; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN51720231568609715686097GA3:g.15686097G>AClinGen:CA278252C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.682A>C (p.Ile228Leu)686BTDUncertain significancers398123140RCV001301669; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568610515686105AC15686105-
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr)686BTDConflicting interpretations of pathogenicityrs397514382RCV000021960|RCV001284605; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN51720231568610615686106TC3:g.15686106T>CClinGen:CA278254C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.695A>G (p.Asp232Gly)686BTDPathogenicrs28934601RCV000001978|RCV000445043; YMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN51720231568611815686118AG3:g.15686118A>GClinGen:CA278012,OMIM:609019.0006C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.697C>T (p.Pro233Ser)686BTDUncertain significancers397514383RCV000021961; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568612015686120CT3:g.15686120C>TClinGen:CA278256C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.704T>C (p.Ile235Thr)686BTDUncertain significancers397514384RCV000021962; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568612715686127TC3:g.15686127T>CClinGen:CA278258C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.705C>G (p.Ile235Met)686BTDLikely pathogenicrs1575029719RCV000987132; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568612815686128CG3:g.15686128C>G-
NM_001370658.1(BTD):c.721_723del (p.Tyr241del)686BTDUncertain significancers1553653835RCV000666357; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568614215686144GACTG3:g.15686142_15686144del-C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.723C>T (p.Tyr241=)686BTDLikely benign-1RCV001402079; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568614615686146CT15686146-
NM_001370658.1(BTD):c.729G>A (p.Val243=)686BTDLikely benign-1RCV001456523; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568615215686152GA15686152-
NM_001370658.1(BTD):c.741G>A (p.Val247=)686BTDLikely benign-1RCV001450348; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568616415686164GA15686164-
NM_001370658.1(BTD):c.743dup (p.Tyr248Ter)686BTDPathogenic-1RCV001380155; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568616515686166TTA15686165-
NM_001370658.1(BTD):c.751G>T (p.Ala251Ser)686BTDConflicting interpretations of pathogenicityrs144575084RCV001327642|RCV001800982; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN51720231568617415686174GT15686174-
NM_001370658.1(BTD):c.754T>G (p.Trp252Gly)686BTDUncertain significancers397514387RCV000021965; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568617715686177TG3:g.15686177T>GClinGen:CA278262C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.772C>G (p.Leu258Val)686BTDPathogenicrs397514388RCV000021966; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568619515686195CG3:g.15686195C>GClinGen:CA278264C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.773T>C (p.Leu258Pro)686BTDUncertain significancers397514389RCV000021967|RCV001251702; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0002122,Human Phen31568619615686196TC3:g.15686196T>CClinGen:CA278266C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.789G>A (p.Glu263=)686BTDLikely benign-1RCV001496840; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568621215686212GA15686212-
NM_001370658.1(BTD):c.795G>C (p.Gln265His)686BTDUncertain significancers1553653855RCV000670667; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568621815686218GC3:g.15686218G>C-C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.798del (p.Ala267fs)686BTDPathogenicrs1575029897RCV000987133; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568621915686219GAG3:g.15686219_15686219del-
NM_001370658.1(BTD):c.806C>T (p.Ala269Val)686BTDConflicting interpretations of pathogenicityrs1057520533RCV000428786|RCV000675056; NMedGen:CN517202|MONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568622915686229CT3:g.15686229C>TClinGen:CA16604827C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.817G>C (p.Gly273Arg)686BTDUncertain significancers762757117RCV000492955|RCV000689556; NMedGen:CN517202|MONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568624015686240GC3:g.15686240G>CClinGen:CA2277389C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.820A>G (p.Ile274Val)686BTDBenign/Likely benignrs35976361RCV000021969|RCV000224487; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN51720231568624315686243AG3:g.15686243A>GClinGen:CA278270C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.825C>T (p.Asn275=)686BTDLikely benign-1RCV001414059; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568624815686248CT15686248-
NM_001370658.1(BTD):c.835G>C (p.Ala279Pro)686BTDConflicting interpretations of pathogenicityrs1157567876RCV000508475|RCV000715008; NMedGen:CN517202|MONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568625815686258GC3:g.15686258G>CClinGen:CA351607446CN517202 not provided;
NM_001370658.1(BTD):c.838A>C (p.Asn280His)686BTDLikely pathogenicrs587783006RCV000144061|RCV000494587; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN51720231568626115686261AC3:g.15686261A>CClinGen:CA278441C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.843C>A (p.Val281=)686BTDLikely benignrs1344958210RCV000929156|RCV001428748; NMedGen:CN517202|MONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568626615686266CA3:g.15686266C>A-
NM_001370658.1(BTD):c.847C>T (p.His283Tyr)686BTDUncertain significancers144084212RCV000298188; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568627015686270CT3:g.15686270C>TClinGen:CA2277394
NM_001370658.1(BTD):c.852A>G (p.Pro284=)686BTDLikely benign-1RCV001406508; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568627515686275AG15686275-
NM_001370658.1(BTD):c.862A>C (p.Met288Leu)686BTDUncertain significancers757604137RCV000665673|RCV001779041; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN16937431568628515686285AC3:g.15686285A>C-C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.873del (p.Ser291fs)686BTDPathogenic/Likely pathogenicrs397514395RCV000021974|RCV000078082; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN51720231568629615686296GTG3:g.15686296_15686296delClinGen:CA278280
NM_001370658.1(BTD):c.874G>A (p.Gly292Ser)686BTDUncertain significancers397514396RCV000021976; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568629715686297GA3:g.15686297G>AClinGen:CA278283C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.875G>A (p.Gly292Asp)686BTDConflicting interpretations of pathogenicityrs377651057RCV000021977; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568629815686298GA3:g.15686298G>AClinGen:CA278285C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.881A>G (p.His294Arg)686BTDUncertain significancers1553653888RCV000671387|RCV001779048; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN16937431568630415686304AG3:g.15686304A>G-C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.886C>A (p.Pro296Thr)686BTDUncertain significancers1553653894RCV000670326; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568630915686309CA3:g.15686309C>A-C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.894G>A (p.Glu298=)686BTDLikely benign-1RCV001421468; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568631715686317GA15686317-
NM_001370658.1(BTD):c.908A>G (p.His303Arg)686BTDConflicting interpretations of pathogenicityrs397507176RCV000021978|RCV000622271|RCV000723564; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MeSH:D030342,MedGen:C0950123|MedGen:CN51720231568633115686331AG3:g.15686331A>GClinGen:CA220339,UniProtKB:P43251#VAR_005116C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.932_941del (p.His311fs)686BTDLikely pathogenicrs773137513RCV000666133; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568635515686364CACCTTATAATC3:g.15686355_15686364del-C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.941_942del (p.Ile314fs)686BTDLikely pathogenicrs749162799RCV000669098; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568636415686365ATTA3:g.15686364_15686365del-C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.972C>T (p.Leu324=)686BTDLikely benignrs117806438RCV000919396; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568639515686395CT3:g.15686395C>T-
NM_001370658.1(BTD):c.978T>G (p.Gly326=)686BTDLikely benign-1RCV001495901; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568640115686401TG15686401-
NM_001370658.1(BTD):c.986A>C (p.Asn329Thr)686BTDUncertain significancers200327983RCV000022033|RCV000278976; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN51720231568640915686409AC3:g.15686409A>CClinGen:CA278370C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.992del (p.Thr331fs)686BTDPathogenicrs397514398RCV000021980|RCV000269677; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN51720231568641515686415ACANC_000003.11:g.15686415delClinGen:CA278288
NM_001370658.1(BTD):c.997G>A (p.Glu333Lys)686BTDLikely benignrs753466926RCV000918930; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568642015686420GA3:g.15686420G>A-
NM_001370658.1(BTD):c.1002G>A (p.Thr334=)686BTDBenign/Likely benignrs148764524RCV000369904|RCV000558183; NMedGen:CN169374|MONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568642515686425GA3:g.15686425G>AClinGen:CA2277415C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.1014T>C (p.His338=)686BTDLikely benignrs371365798RCV000871677; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568643715686437TC3:g.15686437T>C-
NM_001370658.1(BTD):c.1021T>G (p.Phe341Val)686BTDPathogenicrs1204990361RCV001251432; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568644415686444TG3:g.15686444T>GOMIM:609019.0012
NM_001370658.1(BTD):c.1025T>A (p.Leu342Ter)686BTDPathogenic/Likely pathogenicrs747548016RCV000665777; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568644815686448TA3:g.15686448T>A-C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.1026A>G (p.Leu342=)686BTDLikely benign-1RCV001493596; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568644915686449AG15686449-
NM_001370658.1(BTD):c.1041C>T (p.Gly347=)686BTDConflicting interpretations of pathogenicityrs142421934RCV000352964|RCV000371736; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN16937431568646415686464CT3:g.15686464C>TClinGen:CA2277421C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.1041C>A (p.Gly347=)686BTDLikely benign-1RCV001466363; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568646415686464CA15686464-
NM_001370658.1(BTD):c.1042G>A (p.Asp348Asn)686BTDUncertain significancers769903360RCV000822202|RCV001759616; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN51720231568646515686465GA3:g.15686465G>A-
NM_001370658.1(BTD):c.1043A>C (p.Asp348Ala)686BTDUncertain significancers886058115RCV000262752|RCV000437667; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN51720231568646615686466AC3:g.15686466A>CClinGen:CA10615137
NM_001370658.1(BTD):c.1046C>T (p.Pro349Leu)686BTDUncertain significancers397514400RCV000021982; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568646915686469CT3:g.15686469C>TClinGen:CA278291C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.1066C>T (p.Gln356Ter)686BTDPathogenicrs760612966RCV000667458; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568648915686489CT3:g.15686489C>T-C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.1069G>T (p.Glu357Ter)686BTDLikely pathogenicrs1057516252RCV000410177; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568649215686492GT3:g.15686492G>TClinGen:CA16040911
NM_001370658.1(BTD):c.1076A>G (p.His359Arg)686BTDUncertain significancers763540316RCV000819793; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568649915686499AG3:g.15686499A>G-
NM_001370658.1(BTD):c.1086G>A (p.Glu362=)686BTDLikely benign-1RCV001426380; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568650915686509GA15686509-
NM_001370658.1(BTD):c.1092C>T (p.Thr364=)686BTDLikely benignrs753278397RCV000944771; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568651515686515CT3:g.15686515C>T-
NM_001370658.1(BTD):c.1098G>A (p.Trp366Ter)686BTDPathogenic/Likely pathogenicrs397514434RCV000032015; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568652115686521GA3:g.15686521G>AClinGen:CA278383C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.1101C>T (p.Asn367=)686BTDLikely benignrs756863026RCV000978132; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568652415686524CT3:g.15686524C>T-
NM_001370658.1(BTD):c.1110_1111dup (p.Pro371fs)686BTDLikely pathogenicrs1057517256RCV000410764; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568653115686532GGCT3:g.15686531_15686532insCTClinGen:CA16040912
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser)686BTDBenign/Likely benignrs35034250RCV000021984|RCV000434224|RCV000985643; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN169374|MedGen:CN51720231568653415686534CT3:g.15686534C>TClinGen:CA278295,UniProtKB:P43251#VAR_056238C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.1112C>T (p.Pro371Leu)686BTDUncertain significancers375239909RCV000299326; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568653515686535CT3:g.15686535C>TClinGen:CA2277434
NM_001370658.1(BTD):c.1114C>T (p.Pro372Ser)686BTDUncertain significancers886058116RCV000358739; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568653715686537CT3:g.15686537C>TClinGen:CA10617574
NM_001370658.1(BTD):c.1116_1118del (p.Thr373del)686BTDUncertain significancers2065654912RCV000807358; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568653815686540CCCAC3:g.15686538_15686540del-
NM_001370658.1(BTD):c.1135A>T (p.Met379Leu)686BTDUncertain significance-1RCV001559251; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568655815686558AT15686558-
NM_001370658.1(BTD):c.1145A>G (p.Asn382Ser)686BTDUncertain significancers201023772RCV000021987|RCV000405919; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN51720231568656815686568AG3:g.15686568A>GClinGen:CA278298C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val)686BTDConflicting interpretations of pathogenicity, otherrs104893686RCV000501861|RCV000727665; YMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN51720231568657015686570TG3:g.15686570T>GClinVar:1904,ClinGen:CA312373,OMIM:609019.0009C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.1151C>T (p.Thr384Ile)686BTDUncertain significancers397514405RCV000021990|RCV000759002; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN51720231568657415686574CT3:g.15686574C>TClinGen:CA278300C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.1158C>A (p.Val386=)686BTDLikely benign-1RCV001488622; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568658115686581CA15686581-
NM_001370658.1(BTD):c.1167_1181delinsTTCCAATGGCC (p.Trp389fs)686BTDPathogenic/Likely pathogenicrs672601248RCV000169138|RCV000728443; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN51720231568659015686604GGGAAAGGAAGGCTATTCCAATGGCC3:g.15686591_15686604delClinGen:CA278470,OMIM:609019.0002C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.1170A>C (p.Gly390=)686BTDLikely benign-1RCV001393680; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568659315686593AC15686593-
NM_001370658.1(BTD):c.1177G>A (p.Gly393Ser)686BTDUncertain significancers374141881RCV000032020; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568660015686600GA3:g.15686600G>AClinGen:CA278392C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.1181_1192del (p.Tyr394_Val397del)686BTDPathogenic/Likely pathogenicrs397514404RCV000032016|RCV000726739; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN51720231568660215686613GCTATCTCCACGTG3:g.15686602_15686613delClinGen:CA278384C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.1182T>C (p.Tyr394=)686BTDLikely benign-1RCV001466670; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568660515686605TC15686605-
NM_001370658.1(BTD):c.1188C>T (p.His396=)686BTDLikely benignrs372039874RCV000921173; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568661115686611CT3:g.15686611C>T-
NM_001370658.1(BTD):c.1189G>A (p.Val397Ile)686BTDUncertain significancers397514409RCV001326990; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568661215686612GA15686612-
NM_001370658.1(BTD):c.1192T>C (p.Cys398Arg)686BTDConflicting interpretations of pathogenicityrs397514408RCV000021994; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568661515686615TC3:g.15686615T>CClinGen:CA278305C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.1193G>C (p.Cys398Ser)686BTDLikely pathogenicrs397514410RCV000021996; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568661615686616GC3:g.15686616G>CClinGen:CA278309C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.1203C>T (p.Gly401=)686BTDLikely benign-1RCV001474414; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568662615686626CT15686626-
NM_001370658.1(BTD):c.1207T>C (p.Cys403Arg)686BTDConflicting interpretations of pathogenicityrs397514412RCV000021998|RCV001800313; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN16937431568663015686630TC3:g.15686630T>CClinGen:CA278312C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.1211G>A (p.Cys404Tyr)686BTDPathogenic/Likely pathogenicrs397514335RCV000022000|RCV000493447; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN51720231568663415686634GA3:g.15686634G>AClinGen:CA278316C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.1224C>T (p.Tyr408=)686BTDBenign/Likely benignrs35145938RCV000032025|RCV000078063|RCV000429839; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN169374|MedGen:CN51720231568664715686647CT3:g.15686647C>TClinGen:CA145707C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.1225G>A (p.Glu409Lys)686BTDUncertain significancers770633850RCV000264378; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568664815686648GA3:g.15686648G>AClinGen:CA2277449
NM_001370658.1(BTD):c.1236C>T (p.Thr412=)686BTDLikely benign-1RCV001395644; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568665915686659CT15686659-
NM_001370658.1(BTD):c.1247_1248del (p.Glu416fs)686BTDLikely pathogenicrs1057517225RCV000411441; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568666815686669AAGA3:g.15686668_15686669delClinGen:CA16040913
NM_001370658.1(BTD):c.1246G>A (p.Glu416Lys)686BTDConflicting interpretations of pathogenicityrs749460715RCV000483848|RCV000675109; NMedGen:CN517202|MONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568666915686669GA3:g.15686669G>AClinGen:CA2277452C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.1248G>A (p.Glu416=)686BTDLikely benign-1RCV001429335; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568667115686671GA15686671-
NM_001370658.1(BTD):c.1249C>G (p.Leu417Val)686BTDUncertain significancers1553654107RCV000674889; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568667215686672CG3:g.15686672C>G-C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.1251G>C (p.Leu417=)686BTDLikely benign-1RCV001419093; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568667415686674GC15686674-
NM_001370658.1(BTD):c.1254T>A (p.Tyr418Ter)686BTDLikely pathogenicrs397514416RCV000022005; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568667715686677TA3:g.15686677T>AClinGen:CA278326C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.1264del (p.Val422fs)686BTDLikely pathogenicrs1057517362RCV000410785; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568668315686683TGT3:g.15686683_15686683delClinGen:CA16040914
NM_001370658.1(BTD):c.1264G>A (p.Val422Ile)686BTDUncertain significancers776369447RCV000293118|RCV001036979; NMedGen:CN517202|MONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568668715686687GA3:g.15686687G>AClinGen:CA2277457CN169374 not specified;
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)686BTDConflicting interpretations of pathogenicityrs13078881RCV000001977|RCV000078064|RCV001263308; YMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN517202|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:0031568669315686693GC3:g.15686693G>CClinGen:CA090886,UniProtKB:P43251#VAR_005117,OMIM:609019.0005,OMIM:609019.0009,ClinVar:1904,ClinVar:25016C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.1274G>T (p.Gly425Val)686BTDPathogenicrs397514402RCV000022007|RCV000985644; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN51720231568669715686697GT3:g.15686697G>TClinGen:CA278330C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.1274G>A (p.Gly425Glu)686BTDUncertain significancers397514402RCV000672281; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568669715686697GA3:g.15686697G>A-C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.1279C>T (p.His427Tyr)686BTDLikely pathogenicrs397514418RCV000022008; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568670215686702CT3:g.15686702C>TClinGen:CA278332C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.1292_1293del (p.Gly431fs)686BTDLikely pathogenicrs1553654142RCV000674623; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568671515686716GGCG3:g.15686715_15686716del-C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.1298dup (p.Tyr433Ter)686BTDLikely pathogenicrs1553654145RCV000668358; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568672015686721TTA3:g.15686720_15686721insA-C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys)686BTDConflicting interpretations of pathogenicityrs397514345RCV000524591|RCV001578266; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN51720231568672415686724AG3:g.15686724A>GClinGen:CA2277463C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.1308A>C (p.Gln436His)686BTDPathogenicrs80338685RCV000001979|RCV000078065|RCV001251700; YMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN517202|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0031568673115686731AC3:g.15686731A>CClinGen:CA285304,UniProtKB:P43251#VAR_005119,OMIM:609019.0007C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.1309G>T (p.Val437Leu)686BTDUncertain significancers146600671RCV000665732; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568673215686732GT3:g.15686732G>T-C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.1312dup (p.Cys438fs)686BTDPathogenicrs587783007RCV000144062; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568673415686735GGT3:g.15686734_15686735insTClinGen:CA278443C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.1328G>A (p.Cys443Tyr)686BTDUncertain significancers397514421RCV000022012; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568675115686751GA3:g.15686751G>AClinGen:CA278338C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.1334dup (p.Leu446fs)686BTDLikely pathogenicrs397514440RCV000032023; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568675215686753TTG3:g.15686752_15686753insGClinGen:CA278397C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.1333G>T (p.Gly445Cys)686BTDConflicting interpretations of pathogenicityrs746099217RCV000483575|RCV000675116; NMedGen:CN517202|MONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568675615686756GT3:g.15686756G>TClinGen:CA2277467C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.1334G>T (p.Gly445Val)686BTDUncertain significancers1223614917RCV000794472; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568675715686757GT3:g.15686757G>T-
NM_001370658.1(BTD):c.1344C>T (p.Phe448=)686BTDLikely benignrs781065270RCV000944594; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568676715686767CT3:g.15686767C>T-
NM_001370658.1(BTD):c.1350dup (p.Cys451fs)686BTDPathogenicrs886041559RCV000296640|RCV000411318; NMedGen:CN517202|MONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568677115686772AAC3:g.15686771_15686772insCClinGen:CA10602892C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.1353T>C (p.Cys451=)686BTDBenignrs3817641RCV000022013|RCV000078067|RCV001705597; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN169374|MedGen:CN51720231568677615686776TC3:g.15686776T>CClinGen:CA145710C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.1362A>G (p.Glu454=)686BTDLikely benignrs189789794RCV000927579; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568678515686785AG3:g.15686785A>G-
NM_001370658.1(BTD):c.1372G>C (p.Ala458Pro)686BTDConflicting interpretations of pathogenicityrs181396238RCV000022014|RCV000484254; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN51720231568679515686795GC3:g.15686795G>CClinGen:CA278340C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr)686BTDUncertain significancers181396238RCV000022034|RCV001266891; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MeSH:D030342,MedGen:C095012331568679515686795GA3:g.15686795G>AClinGen:CA278372C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.1379G>A (p.Gly460Glu)686BTDUncertain significancers558477960RCV000664856|RCV001355022; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN51720231568680215686802GA3:g.15686802G>A-
NM_001370658.1(BTD):c.1387G>T (p.Glu463Ter)686BTDPathogenicrs1559600871RCV000755883|RCV001065482; NMedGen:CN517202|MONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568681015686810GT3:g.15686810G>T-
NM_001370658.1(BTD):c.1396_1415del (p.Leu466fs)686BTDLikely pathogenicrs1553654178RCV000669535; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568681715686836CACCTGTGGGGCAACTTCAGTC3:g.15686817_15686836del-C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.1395C>G (p.His465Gln)686BTDConflicting interpretations of pathogenicityrs201604102RCV000022015; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568681815686818CG3:g.15686818C>GClinGen:CA278342C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.1399del (p.Trp467fs)686BTDLikely pathogenicrs397514423RCV000022017; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568682215686822GTG3:g.15686822_15686822delClinGen:CA278346
NM_001370658.1(BTD):c.1400G>A (p.Trp467Ter)686BTDLikely pathogenicrs1277029090RCV000672288; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568682315686823GA3:g.15686823G>A-C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.1401G>A (p.Trp467Ter)686BTDLikely pathogenicrs1553654186RCV000664962; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568682415686824GA3:g.15686824G>A-C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr)686BTDUncertain significancers104893692RCV000001980; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568682915686829AC3:g.15686829A>CClinGen:CA278014,OMIM:609019.0008C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.1419del (p.Tyr474fs)686BTDPathogenicrs1559600938RCV000696396; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568684115686841TCT3:g.15686841_15686841del-C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.1419C>G (p.Ser473=)686BTDLikely benign-1RCV001407126; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568684215686842CG15686842-
NM_001370658.1(BTD):c.1421A>G (p.Tyr474Cys)686BTDUncertain significancers750598655RCV000670347; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568684415686844AG3:g.15686844A>G-C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.1425C>A (p.Ile475=)686BTDConflicting interpretations of pathogenicityrs780182371RCV000270145; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568684815686848CA3:g.15686848C>AClinGen:CA2277480
NM_001370658.1(BTD):c.1427T>C (p.Phe476Ser)686BTDUncertain significancers886058117RCV000325459; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568685015686850TC3:g.15686850T>CClinGen:CA10615142
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser)686BTDPathogenicrs138818907RCV000022019|RCV000078068; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN51720231568685215686852CT3:g.15686852C>TClinGen:CA220317C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.1433dup (p.Leu478fs)686BTDPathogenicrs397514425RCV000022020; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568685315686854CCT3:g.15686853_15686854insT-
NM_001370658.1(BTD):c.1438C>T (p.Leu480=)686BTDLikely benign-1RCV001443130; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568686115686861CT15686861-
NM_001370658.1(BTD):c.1446A>G (p.Ser482=)686BTDLikely benign-1RCV001400862; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568686915686869AG15686869-
NM_001370658.1(BTD):c.1448_1452del (p.Gly483fs)686BTDPathogenicrs398123138RCV000178031|RCV000790753; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN51720231568687015686874AGGGATA3:g.15686870_15686874delClinGen:CA220319
NM_001370658.1(BTD):c.1456C>T (p.Leu486=)686BTDLikely benignrs774018881RCV000633684; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568687915686879CT3:g.15686879C>TClinGen:CA2277485C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.1456C>A (p.Leu486Ile)686BTDUncertain significancers774018881RCV001308421; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568687915686879CA15686879-
NM_001370658.1(BTD):c.1465C>T (p.Pro489Ser)686BTDPathogenicrs1344607767RCV000987134; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568688815686888CT3:g.15686888C>T-
NM_001370658.1(BTD):c.1471C>G (p.Gln491Glu)686BTDUncertain significancers397514427RCV000022022; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568689415686894CG3:g.15686894C>GClinGen:CA278352C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.1495dup (p.Tyr499fs)686BTDLikely pathogenicrs1553654220RCV000672895; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568691715686918CCT3:g.15686917_15686918insT-C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.1496A>G (p.Tyr499Cys)686BTDUncertain significancers199859507RCV001246806; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568691915686919AG3:g.15686919A>G-
NM_001370658.1(BTD):c.1503del (p.Arg502fs)686BTDUncertain significancers1163419871RCV000668694; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568692615686926TGT3:g.15686926_15686926del-C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.1528C>G (p.Leu510Val)686BTDLikely benignrs201852672RCV000923093; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568695115686951CG3:g.15686951C>G-
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met)686BTDPathogenicrs104893688RCV000001974|RCV000185809; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN51720231568695815686958CT3:g.15686958C>TOMIM:609019.0011,ClinGen:CA278009,UniProtKB:P43251#VAR_005120C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.1536G>A (p.Thr512=)686BTDUncertain significancers774052068RCV000597261|RCV000801863; NMedGen:CN517202|MONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568695915686959GA3:g.15686959G>AClinGen:CA2277499CN169374 not specified;
NM_001370658.1(BTD):c.1541C>T (p.Ala514Val)686BTDPathogenicrs1210441433RCV001251433; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568696415686964CT3:g.15686964C>TOMIM:609019.0013
NM_001370658.1(BTD):c.1543C>T (p.Leu515Phe)686BTDUncertain significancers771537277RCV000505981|RCV001309054; NMedGen:CN169374|MONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568696615686966CT3:g.15686966C>TClinGen:CA351962544
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys)686BTDPathogenicrs80338686RCV000001975|RCV000790794; YMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN51720231568697515686975CT3:g.15686975C>TClinGen:CA220320,UniProtKB:P43251#VAR_005121,OMIM:609019.0003
NM_001370658.1(BTD):c.1552C>A (p.Arg518Ser)686BTDPathogenic/Likely pathogenicrs80338686RCV000409281|RCV000623390; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MeSH:D030342,MedGen:C095012331568697515686975CA3:g.15686975C>AClinGen:CA312375
NM_001370658.1(BTD):c.1553G>A (p.Arg518His)686BTDPathogenicrs397514429RCV000022024; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568697615686976GA3:g.15686976G>AClinGen:CA278356C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.1553G>T (p.Arg518Leu)686BTDUncertain significancers397514429RCV000506930|RCV001315219; NMedGen:CN169374|MONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568697615686976GT3:g.15686976G>TClinGen:CA351962560CN169374 not specified;
NM_001370658.1(BTD):c.1559A>G (p.Tyr520Cys)686BTDUncertain significancers397514431RCV000022026; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568698215686982AG3:g.15686982A>GClinGen:CA278359C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.1568A>G (p.Asp523Gly)686BTDLikely pathogenicrs1050035768RCV000985098; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568699115686991AG3:g.15686991A>G-
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu)686BTDPathogenicrs146136265RCV000022028|RCV000078071; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:79241|MedGen:CN51720231568699215686992CA3:g.15686992C>AClinGen:CA220321C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.*57T>A686BTDUncertain significancers886058118RCV000384641; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568705215687052TA3:g.15687052T>AClinGen:CA10615146
NM_001370658.1(BTD):c.*159G>A686BTDConflicting interpretations of pathogenicityrs530872564RCV000671749; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568715415687154GA3:g.15687154G>A-C0220754 253260 Biotinidase deficiency;
NM_001370658.1(BTD):c.*211G>A686BTDUncertain significancers78601074RCV000290219; NMONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260, Orphanet:7924131568720615687206GA3:g.15687206G>AClinGen:CA10615154
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