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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Multiple Carboxylase Deficiency (D009100)
..Starting node ..Biotinidase Deficiency (D028921)
Child Nodes:
........Biotin deficiency (C531633)
Sister Nodes:
..Biotinidase Deficiency (D028921) 1
..Holocarboxylase Synthetase Deficiency (D028922)
..Multiple Carboxylase Deficiency, Juvenile-Onset (C565365)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1276

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:

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:

Slim Mappings:

Genetic disease (inborn)|Metabolic disease

Reference:

MedGen: D028921
MeSH: D028921
OMIM: 253260;

Genes: BTD;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001596	Alopecia
3	HP:0002104	Apnea
4	HP:0001251	Ataxia
5	HP:0000509	Conjunctivitis
6	HP:0410145	Decreased biotinidase level
7	HP:0002014	Diarrhea
8	HP:0100275	Diffuse cerebellar atrophy
9	HP:0002506	Diffuse cerebral atrophy
10	HP:0008872	Feeding difficulties in infancy
11	HP:0001290	Generalized hypotonia
12	HP:0001263	Global developmental delay
13	HP:0002240	Hepatomegaly
14	HP:0001987	Hyperammonemia
15	HP:0001252	Hypotonia
16	HP:0001254	Lethargy
17	HP:0005979	Metabolic ketoacidosis
18	HP:0000648	Optic atrophy
19	HP:0001992	Organic aciduria
20	HP:0001581	Recurrent skin infections
21	HP:0001051	Seborrheic dermatitis
22	HP:0001250	Seizure
23	HP:0000407	Sensorineural hearing impairment
24	HP:0000988	Skin rash
25	HP:0001744	Splenomegaly
26	HP:0002789	Tachypnea
27	HP:0000572	Visual loss
28	HP:0002013	Vomiting

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000060.3(BTD):c.-34C>T	-1	-	Benign	114567021	RCV000022029;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15643324	15643324	NM_000060.3:c.-34C>T		NC_000003.11:g.15643324C>T	-	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.98_104delGCGGCTGinsTCC (p.Cys33Phefs)	686	BTD	Pathogenic	80338684	RCV000001972; RCV000078084; RCV000021886;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004; MedGen:CN221809	3	15676984	15676990	NM_000060.3:c.98_104delGCGGCTGinsTCC	NP_000051.1:p.Cys33Phefs	NC_000003.11:g.15676984_15676990delGCGGCTGinsTCC	HGMD:CX952003,OMIM Allelic Variant:609019.0001	C0220754 253260 Biotinidase deficiency; CN221809 not provided
NM_000060.3(BTD):c.98_104delGCGGCTGinsTCC (p.Cys33Phefs)	686	BTD	Pathogenic	80338684	RCV000001972; RCV000078084; RCV000021886;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004; MedGen:CN221809	3	15676984	15676990	NM_000060.3:c.98_104delGCGGCTGinsTCC	NP_000051.1:p.Cys33Phefs	NC_000003.11:g.15676984_15676990delGCGGCTGinsTCC	HGMD:CX952003,OMIM Allelic Variant:609019.0001	C0220754 253260 Biotinidase deficiency; CN221809 not provided
NM_000060.3(BTD):c.99C>T (p.Cys33Cys=)	686	BTD	Benign	201564216	RCV000021887;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15676985	15676985	NM_000060.3:c.99C>T	NP_000051.1:p.Cys33Cys=	NC_000003.11:g.15676985C>T	ARUP_BTD:NM_000060.2:c.99C>T	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.100G>A (p.Gly34Ser)	686	BTD	Pathogenic	119103232	RCV000001976;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15676986	15676986	NM_000060.3:c.100G>A	NP_000051.1:p.Gly34Ser	NC_000003.11:g.15676986G>A	ARUP_BTD:NM_000060.2:c.100G>A,OMIM Allelic Variant:609019.0004	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.128A>G (p.His43Arg)	686	BTD	Pathogenic	146011150	RCV000022030;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15677014	15677014	NM_000060.3:c.128A>G	NP_000051.1:p.His43Arg	NC_000003.11:g.15677014A>G	ARUP_BTD:NM_000060.2:c.128A>G	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.133G>A (p.Gly45Arg)	686	BTD	Likely benign;Pathogenic;Uncertain significance	34885143	RCV000021888; RCV000175516; RCV000185799; RCV000021890; RCV000021889;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004; MedGen:CN169374; MedGen:CN221809	3	15677019	15677019	NM_000060.3:c.133G>A	NP_000051.1:p.Gly45Arg	NC_000003.11:g.15677019G>A	ARUP_BTD:NM_000060.2:c.133G>A	C0220754 253260 Biotinidase deficiency; CN221809 not provided; CN169374 not specified
NM_000060.3(BTD):c.133G>A (p.Gly45Arg)	686	BTD	Likely benign;Pathogenic;Uncertain significance	34885143	RCV000021888; RCV000175516; RCV000185799; RCV000021890; RCV000021889;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004; MedGen:CN169374; MedGen:CN221809	3	15677019	15677019	NM_000060.3:c.133G>A	NP_000051.1:p.Gly45Arg	NC_000003.11:g.15677019G>A	ARUP_BTD:NM_000060.2:c.133G>A	C0220754 253260 Biotinidase deficiency; CN221809 not provided; CN169374 not specified
NM_000060.3(BTD):c.133G>A (p.Gly45Arg)	686	BTD	Likely benign;Pathogenic;Uncertain significance	34885143	RCV000021888; RCV000175516; RCV000185799; RCV000021890; RCV000021889;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004; MedGen:CN169374; MedGen:CN221809	3	15677019	15677019	NM_000060.3:c.133G>A	NP_000051.1:p.Gly45Arg	NC_000003.11:g.15677019G>A	ARUP_BTD:NM_000060.2:c.133G>A	C0220754 253260 Biotinidase deficiency; CN221809 not provided; CN169374 not specified
NM_000060.3(BTD):c.136G>T (p.Glu46Ter)	686	BTD	Pathogenic	397514336	RCV000021891;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15677022	15677022	NM_000060.3:c.136G>T	NP_000051.1:p.Glu46Ter	NC_000003.11:g.15677022G>T	ARUP_BTD:NM_000060.2:c.136G>T	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.159C>A (p.His53Gln)	686	BTD	Pathogenic	397514337	RCV000021892;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15677045	15677045	NM_000060.3:c.159C>A	NP_000051.1:p.His53Gln	NC_000003.11:g.15677045C>A	ARUP_BTD:NM_000060.2:c.159C>A	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.160G>T (p.Glu54Ter)	686	BTD	Pathogenic	397514338	RCV000021892;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15677046	15677046	NM_000060.3:c.160G>T	NP_000051.1:p.Glu54Ter	NC_000003.11:g.15677045C>A	ARUP_BTD:NM_000060.2:c.160G>T	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.171T>G (p.Tyr57Ter)	686	BTD	Pathogenic	397514339	RCV000021893;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15677057	15677057	NM_000060.3:c.171T>G	NP_000051.1:p.Tyr57Ter	NC_000003.11:g.15677057T>G	ARUP_BTD:NM_000060.2:c.171T>G	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.184G>T (p.Val62Leu)	686	BTD	Pathogenic	397507170	RCV000021894;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15677070	15677070	NM_000060.3:c.184G>T	NP_000051.1:p.Val62Leu	NC_000003.11:g.15677070G>A,NC_000003.11:g.15677070G>T	ARUP_BTD:NM_000060.2:c.184G>T	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.184G>A (p.Val62Met)	686	BTD	Pathogenic	397507170	RCV000021895; RCV000185800;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004; MedGen:CN221809	3	15677070	15677070	NM_000060.3:c.184G>A	NP_000051.1:p.Val62Met	NC_000003.11:g.15677070G>A,NC_000003.11:g.15677070G>T	ARUP_BTD:NM_000060.2:c.184G>A	C0220754 253260 Biotinidase deficiency; CN221809 not provided
NM_000060.3(BTD):c.190G>A (p.Glu64Lys)	686	BTD	Pathogenic	397514340	RCV000021896;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15677076	15677076	NM_000060.3:c.190G>A	NP_000051.1:p.Glu64Lys	NC_000003.11:g.15677076G>A	ARUP_BTD:NM_000060.2:c.190G>A	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.192G>C (p.Glu64Asp)	686	BTD	Pathogenic	397514436	RCV000032017;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15677078	15677078	NM_000060.3:c.192G>C	NP_000051.1:p.Glu64Asp	NC_000003.11:g.15677078G>C	ARUP_BTD:NM_000060.2:c.192G>C	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.194A>G (p.His65Arg)	686	BTD	Pathogenic	397514341	RCV000021898;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15677080	15677080	NM_000060.3:c.194A>G	NP_000051.1:p.His65Arg	NC_000003.11:g.15677080A>G	ARUP_BTD:NM_000060.2:c.194A>G	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.202_205dupATCC (p.Leu69Hisfs)	686	BTD	Likely pathogenic	786204672	RCV000169475;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15677088	15677091	NM_000060.3:c.202_205dupATCC	NP_000051.1:p.Leu69Hisfs	NC_000003.11:g.15677088_15677091dupATCC	-	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.211C>T (p.Leu71Leu=)	686	BTD	Benign	397514342	RCV000021899;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15677097	15677097	NM_000060.3:c.211C>T	NP_000051.1:p.Leu71Leu=	NC_000003.11:g.15677097C>T	ARUP_BTD:NM_000060.2:c.211C>T	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.212T>C (p.Leu71Pro)	686	BTD	Pathogenic	397514333	RCV000021900; RCV000021886; RCV000021901;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15677098	15677098	NM_000060.3:c.212T>C	NP_000051.1:p.Leu71Pro	NC_000003.11:g.15677098T>C	ARUP_BTD:NM_000060.2:c.212T>C	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.212T>C (p.Leu71Pro)	686	BTD	Pathogenic	397514333	RCV000021900; RCV000021886; RCV000021901;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15677098	15677098	NM_000060.3:c.212T>C	NP_000051.1:p.Leu71Pro	NC_000003.11:g.15677098T>C	ARUP_BTD:NM_000060.2:c.212T>C	C0220754 253260 Biotinidase deficiency; CN221809 not provided
NM_000060.3(BTD):c.212T>C (p.Leu71Pro)	686	BTD	Pathogenic	397514333	RCV000021900; RCV000021886; RCV000021901;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15677098	15677098	NM_000060.3:c.212T>C	NP_000051.1:p.Leu71Pro	NC_000003.11:g.15677098T>C	ARUP_BTD:NM_000060.2:c.212T>C	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.234C>T (p.Ser78Ser=)	686	BTD	Benign	397514344	RCV000021902;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15677120	15677120	NM_000060.3:c.234C>T	NP_000051.1:p.Ser78Ser=	NC_000003.11:g.15677120C>T	ARUP_BTD:NM_000060.2:c.234C>T	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.235C>T (p.Arg79Cys)	686	BTD	Pathogenic	104893687	RCV000001982; RCV000185801; RCV000021903; RCV000032009;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004; MedGen:CN221809	3	15677121	15677121	NM_000060.3:c.235C>T	NP_000051.1:p.Arg79Cys	NC_000003.11:g.15677121C>T	ARUP_BTD:NM_000060.2:c.235C>T,OMIM Allelic Variant:609019.0010	C0220754 253260 Biotinidase deficiency; CN221809 not provided
NM_000060.3(BTD):c.235C>T (p.Arg79Cys)	686	BTD	Pathogenic	104893687	RCV000001982; RCV000185801; RCV000021903; RCV000032009;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004; MedGen:CN221809	3	15677121	15677121	NM_000060.3:c.235C>T	NP_000051.1:p.Arg79Cys	NC_000003.11:g.15677121C>T	ARUP_BTD:NM_000060.2:c.235C>T,OMIM Allelic Variant:609019.0010	C0220754 253260 Biotinidase deficiency; CN221809 not provided
NM_000060.3(BTD):c.235C>T (p.Arg79Cys)	686	BTD	Pathogenic	104893687	RCV000001982; RCV000185801; RCV000021903; RCV000032009;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004; MedGen:CN221809	3	15677121	15677121	NM_000060.3:c.235C>T	NP_000051.1:p.Arg79Cys	NC_000003.11:g.15677121C>T	ARUP_BTD:NM_000060.2:c.235C>T,OMIM Allelic Variant:609019.0010	C0220754 253260 Biotinidase deficiency; CN221809 not provided
NM_000060.3(BTD):c.236G>A (p.Arg79His)	686	BTD	Pathogenic	397514343	RCV000021901; RCV000021905;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15677122	15677122	NM_000060.3:c.236G>A	NP_000051.1:p.Arg79His	NC_000003.11:g.15677122G>A	ARUP_BTD:NM_000060.2:c.236G>A	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.236G>A (p.Arg79His)	686	BTD	Pathogenic	397514343	RCV000021901; RCV000021905;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15677122	15677122	NM_000060.3:c.236G>A	NP_000051.1:p.Arg79His	NC_000003.11:g.15677122G>A	ARUP_BTD:NM_000060.2:c.236G>A	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.245C>T (p.Ala82Val)	686	BTD	Pathogenic	397507171	RCV000021907;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15677131	15677131	NM_000060.3:c.245C>T	NP_000051.1:p.Ala82Val	NC_000003.11:g.15677131C>A,NC_000003.11:g.15677131C>T	ARUP_BTD:NM_000060.2:c.245C>T	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.245C>A (p.Ala82Asp)	686	BTD	Pathogenic	397507171	RCV000021906;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15677131	15677131	NM_000060.3:c.245C>A	NP_000051.1:p.Ala82Asp	NC_000003.11:g.15677131C>A,NC_000003.11:g.15677131C>T	ARUP_BTD:NM_000060.2:c.245C>A	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.246_254delCTTGGAGCT (p.Leu83_Leu85del)	686	BTD	Pathogenic	397514346	RCV000021908;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15677132	15677140	NM_000060.3:c.246_254delCTTGGAGCT	NP_000051.1:p.Leu83_Leu85del	NC_000003.11:g.15677132_15677140delCTTGGAGCT	-	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.248T>C (p.Leu83Ser)	686	BTD	Pathogenic	397514347	RCV000021909;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15677134	15677134	NM_000060.3:c.248T>C	NP_000051.1:p.Leu83Ser	NC_000003.11:g.15677134T>C	ARUP_BTD:NM_000060.2:c.248T>C	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.257T>G (p.Met86Arg)	686	BTD	Pathogenic	587783002	RCV000144056;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15677143	15677143	NM_000060.3:c.257T>G	NP_000051.1:p.Met86Arg	NC_000003.11:g.15677143T>G	-	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.262C>T (p.Gln88Ter)	686	BTD	Pathogenic	151071780	RCV000021910;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15677148	15677148	NM_000060.3:c.262C>T	NP_000051.1:p.Gln88Ter	NC_000003.11:g.15677148C>T	ARUP_BTD:NM_000060.2:c.262C>T	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.278A>G (p.Tyr93Cys)	686	BTD	Pathogenic	397514348	RCV000021911;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15677164	15677164	NM_000060.3:c.278A>G	NP_000051.1:p.Tyr93Cys	NC_000003.11:g.15677164A>G	ARUP_BTD:NM_000060.2:c.278A>G	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.283C>T (p.Gln95Ter)	686	BTD	Pathogenic	397514349	RCV000021912;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15677169	15677169	NM_000060.3:c.283C>T	NP_000051.1:p.Gln95Ter	NC_000003.11:g.15677169C>T	ARUP_BTD:NM_000060.2:c.283C>T	C0220754 253260 Biotinidase deficiency; CN221809 not provided
NM_000060.3(BTD):c.298G>A (p.Ala100Thr)	686	BTD	Pathogenic	397514350	RCV000021913;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15677184	15677184	NM_000060.3:c.298G>A	NP_000051.1:p.Ala100Thr	NC_000003.11:g.15677184G>A	ARUP_BTD:NM_000060.2:c.298G>A	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.310-15delT	686	BTD	Pathogenic	587783008	RCV000144063;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15683400	15683400	NM_000060.3:c.310-15delT		NC_000003.11:g.15683400delT	-	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.310G>T (p.Asp104Tyr)	686	BTD	Pathogenic	397514351	RCV000021914;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15683415	15683415	NM_000060.3:c.310G>T	NP_000051.1:p.Asp104Tyr	NC_000003.11:g.15683415G>T	ARUP_BTD:NM_000060.2:c.310G>T	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.326T>G (p.Val109Gly)	686	BTD	Pathogenic	397507172	RCV000021915;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15683431	15683431	NM_000060.3:c.326T>G	NP_000051.1:p.Val109Gly	NC_000003.11:g.15683431T>G	ARUP_BTD:NM_000060.2:c.326T>G	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.334G>C (p.Glu112Gln)	686	BTD	Pathogenic	397514352	RCV000021916;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15683439	15683439	NM_000060.3:c.334G>C	NP_000051.1:p.Glu112Gln	NC_000003.11:g.15683439G>A,NC_000003.11:g.15683439G>C	ARUP_BTD:NM_000060.2:c.334G>C	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.334G>A (p.Glu112Lys)	686	BTD	Pathogenic	397514352	RCV000021917;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15683439	15683439	NM_000060.3:c.334G>A	NP_000051.1:p.Glu112Lys	NC_000003.11:g.15683439G>A,NC_000003.11:g.15683439G>C	ARUP_BTD:NM_000060.2:c.334G>A	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.341G>T (p.Gly114Val)	686	BTD	Pathogenic	375712490	RCV000021918;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15683446	15683446	NM_000060.3:c.341G>T	NP_000051.1:p.Gly114Val	NC_000003.11:g.15683446G>T	ARUP_BTD:NM_000060.2:c.341G>T	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.356A>G (p.Asn119Ser)	686	BTD	Pathogenic	397514353	RCV000021919;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15683461	15683461	NM_000060.3:c.356A>G	NP_000051.1:p.Asn119Ser	NC_000003.11:g.15683461A>G	ARUP_BTD:NM_000060.2:c.356A>G	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.364A>G (p.Arg122Gly)	686	BTD	Pathogenic	397514354	RCV000021920;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15683469	15683469	NM_000060.3:c.364A>G	NP_000051.1:p.Arg122Gly	NC_000003.11:g.15683469A>G	ARUP_BTD:NM_000060.2:c.364A>G	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.382T>G (p.Phe128Val)	686	BTD	Pathogenic	397514355	RCV000021921;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15683487	15683487	NM_000060.3:c.382T>G	NP_000051.1:p.Phe128Val	NC_000003.11:g.15683487T>G	ARUP_BTD:NM_000060.2:c.382T>G	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.393delC (p.Phe131Leufs)	686	BTD	Pathogenic	397514356	RCV000021922;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15683498	15683498	NM_000060.3:c.393delC	NP_000051.1:p.Phe131Leufs	NC_000003.11:g.15683498delC	-	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.407dupA (p.Val137Glyfs)	686	BTD	Pathogenic	397514439	RCV000032021;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15683512	15683512	NM_000060.3:c.407dupA	NP_000051.1:p.Val137Glyfs	NC_000003.11:g.15683512dupA	-	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.424C>A (p.Pro142Thr)	686	BTD	Pathogenic	397514357	RCV000021923;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15683529	15683529	NM_000060.3:c.424C>A	NP_000051.1:p.Pro142Thr	NC_000003.11:g.15683529C>A	ARUP_BTD:NM_000060.2:c.424C>A	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.443G>A (p.Arg148His)	686	BTD	Pathogenic	367902696	RCV000021924;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15683548	15683548	NM_000060.3:c.443G>A	NP_000051.1:p.Arg148His	NC_000003.11:g.15683548G>A	ARUP_BTD:NM_000060.2:c.443G>A	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.444C>A (p.Arg148Arg=)	686	BTD	Benign	397514358	RCV000021925;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15683549	15683549	NM_000060.3:c.444C>A	NP_000051.1:p.Arg148Arg=	NC_000003.11:g.15683549C>A	ARUP_BTD:NM_000060.2:c.444C>A	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.445T>C (p.Phe149Leu)	686	BTD	Pathogenic	397514359	RCV000021926;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15683550	15683550	NM_000060.3:c.445T>C	NP_000051.1:p.Phe149Leu	NC_000003.11:g.15683550T>C	ARUP_BTD:NM_000060.2:c.445T>C	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.454A>C (p.Thr152Pro)	686	BTD	Pathogenic	374681173	RCV000021927;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15683559	15683559	NM_000060.3:c.454A>C	NP_000051.1:p.Thr152Pro	NC_000003.11:g.15683559A>C	ARUP_BTD:NM_000060.2:c.454A>C	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.455C>G (p.Thr152Arg)	686	BTD	Pathogenic	587783003	RCV000144057;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15683560	15683560	NM_000060.3:c.455C>G	NP_000051.1:p.Thr152Arg	NC_000003.11:g.15683560C>G	-	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.459G>A (p.Glu153Glu=)	686	BTD	Pathogenic	397514360	RCV000021928;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15683564	15683564	NM_000060.3:c.459G>A	NP_000051.1:p.Glu153Glu=	NC_000003.11:g.15683564G>A	ARUP_BTD:NM_000060.2:c.459G>A	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.460-8dupT	686	BTD	Benign;Uncertain significance	397514361	RCV000021929; RCV000178030;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004; MedGen:CN221809	3	15685815	15685815	NM_000060.3:c.460-8dupT		NC_000003.11:g.15685815dupT	-	C0220754 253260 Biotinidase deficiency; CN221809 not provided
NM_000060.3(BTD):c.466C>T (p.Gln156Ter)	686	BTD	Pathogenic	397514362	RCV000021930;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15685829	15685829	NM_000060.3:c.466C>T	NP_000051.1:p.Gln156Ter	NC_000003.11:g.15685829C>T	ARUP_BTD:NM_000060.2:c.466C>T	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.469C>T (p.Arg157Cys)	686	BTD	Pathogenic	397514363	RCV000021931;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15685832	15685832	NM_000060.3:c.469C>T	NP_000051.1:p.Arg157Cys	NC_000003.11:g.15685832C>T	ARUP_BTD:NM_000060.2:c.469C>T	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.470G>A (p.Arg157His)	686	BTD	Pathogenic	146015592	RCV000021904; RCV000078072; RCV000032009; RCV000021933;	Y	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004; MedGen:CN221809	3	15685833	15685833	NM_000060.3:c.470G>A	NP_000051.1:p.Arg157His	NC_000003.11:g.15685833G>A	ARUP_BTD:NM_000060.2:c.470G>A,HGMD:CM993548	C0220754 253260 Biotinidase deficiency; CN221809 not provided
NM_000060.3(BTD):c.470G>A (p.Arg157His)	686	BTD	Pathogenic	146015592	RCV000021904; RCV000078072; RCV000032009; RCV000021933;	Y	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004; MedGen:CN221809	3	15685833	15685833	NM_000060.3:c.470G>A	NP_000051.1:p.Arg157His	NC_000003.11:g.15685833G>A	ARUP_BTD:NM_000060.2:c.470G>A,HGMD:CM993548	C0220754 253260 Biotinidase deficiency; CN221809 not provided
NM_000060.3(BTD):c.470G>A (p.Arg157His)	686	BTD	Pathogenic	146015592	RCV000021904; RCV000078072; RCV000032009; RCV000021933;	Y	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004; MedGen:CN221809	3	15685833	15685833	NM_000060.3:c.470G>A	NP_000051.1:p.Arg157His	NC_000003.11:g.15685833G>A	ARUP_BTD:NM_000060.2:c.470G>A,HGMD:CM993548	C0220754 253260 Biotinidase deficiency; CN221809 not provided
NM_000060.3(BTD):c.485C>T (p.Ala162Val)	686	BTD	Pathogenic	397514364	RCV000021934;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15685848	15685848	NM_000060.3:c.485C>T	NP_000051.1:p.Ala162Val	NC_000003.11:g.15685848C>T	ARUP_BTD:NM_000060.2:c.485C>T	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.490_491delAG (p.Arg164Glyfs)	686	BTD	Pathogenic	397514365	RCV000021935;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15685853	15685854	NM_000060.3:c.490_491delAG	NP_000051.1:p.Arg164Glyfs	NC_000003.11:g.15685853_15685854delAG	-	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.511G>A (p.Ala171Thr)	686	BTD	Pathogenic	13073139	RCV000021936; RCV000031859; RCV000078073;	Y	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004; MedGen:CN221809	3	15685874	15685874	NM_000060.3:c.511G>A	NP_000051.1:p.Ala171Thr	NC_000003.11:g.15685874G>A	ARUP_BTD:NM_000060.2:c.511G>A,HGMD:CM980254,OMIM Allelic Variant:609019.0005	C0220754 253260 Biotinidase deficiency; CN221809 not provided
NM_000060.3(BTD):c.511G>A (p.Ala171Thr)	686	BTD	Pathogenic	13073139	RCV000021936; RCV000031859; RCV000078073;	Y	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004; MedGen:CN221809	3	15685874	15685874	NM_000060.3:c.511G>A	NP_000051.1:p.Ala171Thr	NC_000003.11:g.15685874G>A	ARUP_BTD:NM_000060.2:c.511G>A,HGMD:CM980254,OMIM Allelic Variant:609019.0005	C0220754 253260 Biotinidase deficiency; CN221809 not provided
NM_000060.3(BTD):c.515A>G (p.Asn172Ser)	686	BTD	Pathogenic	397514366	RCV000021937;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15685878	15685878	NM_000060.3:c.515A>G	NP_000051.1:p.Asn172Ser	NC_000003.11:g.15685878A>G	ARUP_BTD:NM_000060.2:c.515A>G	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.518T>G (p.Leu173Arg)	686	BTD	Pathogenic	397514437	RCV000032018;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15685881	15685881	NM_000060.3:c.518T>G	NP_000051.1:p.Leu173Arg	NC_000003.11:g.15685881T>G	ARUP_BTD:NM_000060.2:c.518T>G	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.528G>T (p.Lys176Asn)	686	BTD	Pathogenic	397514367	RCV000021938; RCV000078074;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004; MedGen:CN221809	3	15685891	15685891	NM_000060.3:c.528G>T	NP_000051.1:p.Lys176Asn	NC_000003.11:g.15685891G>T	ARUP_BTD:NM_000060.2:c.528G>T,HGMD:CM993550	C0220754 253260 Biotinidase deficiency; CN221809 not provided
NM_000060.3(BTD):c.544delA (p.Ser182Valfs)	686	BTD	Pathogenic	397514368	RCV000021939;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15685907	15685907	NM_000060.3:c.544delA	NP_000051.1:p.Ser182Valfs	NC_000003.11:g.15685907delA	-	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.557G>A (p.Cys186Tyr)	686	BTD	Likely pathogenic;Pathogenic	397514369	RCV000021940; RCV000078075;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004; MedGen:CN221809	3	15685920	15685920	NM_000060.3:c.557G>A	NP_000051.1:p.Cys186Tyr	NC_000003.11:g.15685920G>A	ARUP_BTD:NM_000060.2:c.557G>A,HGMD:CM000663	C0220754 253260 Biotinidase deficiency; CN221809 not provided
NM_000060.3(BTD):c.559C>T (p.Pro187Ser)	686	BTD	Pathogenic	397507173	RCV000021941;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15685922	15685922	NM_000060.3:c.559C>T	NP_000051.1:p.Pro187Ser	NC_000003.11:g.15685922C>T	ARUP_BTD:NM_000060.2:c.559C>T	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.583A>G (p.Asn195Asp)	686	BTD	Pathogenic	397514370	RCV000021942;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15685946	15685946	NM_000060.3:c.583A>G	NP_000051.1:p.Asn195Asp	NC_000003.11:g.15685946A>G	ARUP_BTD:NM_000060.2:c.583A>G	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.584A>G (p.Asn195Ser)	686	BTD	Pathogenic	397514371	RCV000021943; RCV000185802;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004; MedGen:CN221809	3	15685947	15685947	NM_000060.3:c.584A>G	NP_000051.1:p.Asn195Ser	NC_000003.11:g.15685947A>G	ARUP_BTD:NM_000060.2:c.584A>G	C0220754 253260 Biotinidase deficiency; CN221809 not provided
NM_000060.3(BTD):c.587C>G (p.Thr196Arg)	686	BTD	Pathogenic	397514372	RCV000021944;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15685950	15685950	NM_000060.3:c.587C>G	NP_000051.1:p.Thr196Arg	NC_000003.11:g.15685950C>G	ARUP_BTD:NM_000060.2:c.587C>G	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.594_596delCGT (p.Val199del)	686	BTD	Pathogenic	397514373	RCV000021945;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15685957	15685959	NM_000060.3:c.594_596delCGT	NP_000051.1:p.Val199del	NC_000003.11:g.15685957_15685959delCGT	-	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.594delC (p.Val199Cysfs)	686	BTD	Pathogenic	397514374	RCV000021946;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15685957	15685957	NM_000060.3:c.594delC	NP_000051.1:p.Val199Cysfs	NC_000003.11:g.15685957delC	-	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.595G>A (p.Val199Met)	686	BTD	Pathogenic	397514375	RCV000021947;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15685958	15685958	NM_000060.3:c.595G>A	NP_000051.1:p.Val199Met	NC_000003.11:g.15685958G>A	ARUP_BTD:NM_000060.2:c.595G>A	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.605A>T (p.Asn202Ile)	686	BTD	Pathogenic	397514376	RCV000021948;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15685968	15685968	NM_000060.3:c.605A>T	NP_000051.1:p.Asn202Ile	NC_000003.11:g.15685968A>T	ARUP_BTD:NM_000060.2:c.605A>T	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.626G>A (p.Arg209His)	686	BTD	Pathogenic;Uncertain significance	398123139	RCV000144058; RCV000078076; RCV000185803;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004; MedGen:CN169374; MedGen:CN221809	3	15685989	15685989	NM_000060.3:c.626G>A	NP_000051.1:p.Arg209His	NC_000003.11:g.15685989G>A	-	C0220754 253260 Biotinidase deficiency; CN221809 not provided; CN169374 not specified
NM_000060.3(BTD):c.629A>G (p.Tyr210Cys)	686	BTD	Likely pathogenic;Pathogenic	397507174	RCV000021949;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15685992	15685992	NM_000060.3:c.629A>G	NP_000051.1:p.Tyr210Cys	NC_000003.11:g.15685992A>G	ARUP:BTD,ARUP_BTD:NM_000060.2:c.629A>G	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.631C>T (p.Arg211Cys)	686	BTD	Pathogenic	372844636	RCV000021950;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15685994	15685994	NM_000060.3:c.631C>T	NP_000051.1:p.Arg211Cys	NC_000003.11:g.15685994C>T	ARUP_BTD:NM_000060.2:c.631C>T	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.632G>A (p.Arg211His)	686	BTD	Pathogenic;Uncertain significance	112195009	RCV000021951; RCV000078077;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004; MedGen:CN221809	3	15685995	15685995	NM_000060.3:c.632G>A	NP_000051.1:p.Arg211His	NC_000003.11:g.15685995G>A	ARUP_BTD:NM_000060.2:c.632G>A,HGMD:CM1110949	C0220754 253260 Biotinidase deficiency; CN221809 not provided
NM_000060.3(BTD):c.641A>G (p.Asn214Ser)	686	BTD	Pathogenic	397514377	RCV000021952; RCV000032022;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686004	15686004	NM_000060.3:c.641A>G	NP_000051.1:p.Asn214Ser	NC_000003.11:g.15686004A>G	ARUP_BTD:NM_000060.2:c.641A>G	C0220754 253260 Biotinidase deficiency; CN221809 not provided
NM_000060.3(BTD):c.641A>G (p.Asn214Ser)	686	BTD	Pathogenic	397514377	RCV000021952; RCV000032022;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686004	15686004	NM_000060.3:c.641A>G	NP_000051.1:p.Asn214Ser	NC_000003.11:g.15686004A>G	ARUP_BTD:NM_000060.2:c.641A>G	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.643C>T (p.Leu215Phe)	686	BTD	Pathogenic	190386869	RCV000021953; RCV000185804;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004; MedGen:CN221809	3	15686006	15686006	NM_000060.3:c.643C>T	NP_000051.1:p.Leu215Phe	NC_000003.11:g.15686006C>T	ARUP_BTD:NM_000060.2:c.643C>T	C0220754 253260 Biotinidase deficiency; CN221809 not provided
NM_000060.3(BTD):c.645C>T (p.Leu215Leu=)	686	BTD	Benign	145388314	RCV000021954; RCV000078078;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004; MedGen:CN169374	3	15686008	15686008	NM_000060.3:c.645C>T	NP_000051.1:p.Leu215Leu=	NC_000003.11:g.15686008C>T	ARUP_BTD:NM_000060.2:c.645C>T	C0220754 253260 Biotinidase deficiency; CN169374 not specified
NM_000060.3(BTD):c.652G>C (p.Glu218Gln)	686	BTD	Pathogenic	397514378	RCV000021955;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686015	15686015	NM_000060.3:c.652G>C	NP_000051.1:p.Glu218Gln	NC_000003.11:g.15686015G>C	ARUP_BTD:NM_000060.2:c.652G>C	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.654G>C (p.Glu218Asp)	686	BTD	Pathogenic	397514379	RCV000021956;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686017	15686017	NM_000060.3:c.654G>C	NP_000051.1:p.Glu218Asp	NC_000003.11:g.15686017G>C	ARUP_BTD:NM_000060.2:c.654G>C	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.664G>C (p.Asp222His)	686	BTD	Pathogenic	200337373	RCV000022031;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686027	15686027	NM_000060.3:c.664G>C	NP_000051.1:p.Asp222His	NC_000003.11:g.15686027G>C	ARUP_BTD:NM_000060.2:c.664G>C	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.682G>T (p.Asp228Tyr)	686	BTD	Pathogenic	397514380	RCV000021957; RCV000185805;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004; MedGen:CN221809	3	15686045	15686045	NM_000060.3:c.682G>T	NP_000051.1:p.Asp228Tyr	NC_000003.11:g.15686045G>T	ARUP_BTD:NM_000060.2:c.682G>T	C0220754 253260 Biotinidase deficiency; CN221809 not provided
NM_000060.3(BTD):c.683A>G (p.Asp228Gly)	686	BTD	Pathogenic	587783004	RCV000144059;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686046	15686046	NM_000060.3:c.683A>G	NP_000051.1:p.Asp228Gly	NC_000003.11:g.15686046A>G	-	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.701C>T (p.Thr234Ile)	686	BTD	Likely pathogenic;Pathogenic	587783005	RCV000144060; RCV000185806;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004; MedGen:CN221809	3	15686064	15686064	NM_000060.3:c.701C>T	NP_000051.1:p.Thr234Ile	NC_000003.11:g.15686064C>T	-	C0220754 253260 Biotinidase deficiency; CN221809 not provided
NM_000060.3(BTD):c.709G>A (p.Ala237Thr)	686	BTD	Pathogenic	397514381	RCV000021958;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686072	15686072	NM_000060.3:c.709G>A	NP_000051.1:p.Ala237Thr	NC_000003.11:g.15686072G>A	ARUP_BTD:NM_000060.2:c.709G>A	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.734G>A (p.Cys245Tyr)	686	BTD	Likely pathogenic;Pathogenic	397507175	RCV000021959;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686097	15686097	NM_000060.3:c.734G>A	NP_000051.1:p.Cys245Tyr	NC_000003.11:g.15686097G>A	ARUP_BTD:NM_000060.2:c.734G>A	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.743T>C (p.Ile248Thr)	686	BTD	Pathogenic	397514382	RCV000021960;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686106	15686106	NM_000060.3:c.743T>C	NP_000051.1:p.Ile248Thr	NC_000003.11:g.15686106T>C	ARUP_BTD:NM_000060.2:c.743T>C	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.755A>G (p.Asp252Gly)	686	BTD	Pathogenic	28934601	RCV000001978;	Y	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686118	15686118	NM_000060.3:c.755A>G	NP_000051.1:p.Asp252Gly	NC_000003.11:g.15686118A>G	ARUP_BTD:NM_000060.2:c.755A>G,OMIM Allelic Variant:609019.0006	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.757C>T (p.Pro253Ser)	686	BTD	Pathogenic	397514383	RCV000021961;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686120	15686120	NM_000060.3:c.757C>T	NP_000051.1:p.Pro253Ser	NC_000003.11:g.15686120C>T	ARUP_BTD:NM_000060.2:c.757C>T	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.758C>T (p.Pro253Leu)	686	BTD	Pathogenic	397514438	RCV000032019;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686121	15686121	NM_000060.3:c.758C>T	NP_000051.1:p.Pro253Leu	NC_000003.11:g.15686121C>T	ARUP_BTD:NM_000060.2:c.758C>T	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.764T>C (p.Ile255Thr)	686	BTD	Pathogenic	397514384	RCV000021962;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686127	15686127	NM_000060.3:c.764T>C	NP_000051.1:p.Ile255Thr	NC_000003.11:g.15686127T>C	ARUP_BTD:NM_000060.2:c.764T>C	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.794A>T (p.His265Leu)	686	BTD	Pathogenic	397514385	RCV000021963; RCV000021964;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686157	15686157	NM_000060.3:c.794A>T	NP_000051.1:p.His265Leu	NC_000003.11:g.15686157A>T	ARUP_BTD:NM_000060.2:c.794A>T	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.794A>T (p.His265Leu)	686	BTD	Pathogenic	397514385	RCV000021963; RCV000021964;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686157	15686157	NM_000060.3:c.794A>T	NP_000051.1:p.His265Leu	NC_000003.11:g.15686157A>T	ARUP_BTD:NM_000060.2:c.794A>T	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.814T>G (p.Trp272Gly)	686	BTD	Pathogenic	397514387	RCV000021965;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686177	15686177	NM_000060.3:c.814T>G	NP_000051.1:p.Trp272Gly	NC_000003.11:g.15686177T>G	ARUP_BTD:NM_000060.2:c.814T>G	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.832C>G (p.Leu278Val)	686	BTD	Pathogenic	397514388	RCV000021966;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686195	15686195	NM_000060.3:c.832C>G	NP_000051.1:p.Leu278Val	NC_000003.11:g.15686195C>G	ARUP_BTD:NM_000060.2:c.832C>G	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.833T>C (p.Leu278Pro)	686	BTD	Pathogenic	397514389	RCV000021967;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686196	15686196	NM_000060.3:c.833T>C	NP_000051.1:p.Leu278Pro	NC_000003.11:g.15686196T>C	ARUP_BTD:NM_000060.2:c.833T>C	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.836T>G (p.Leu279Trp)	686	BTD	Pathogenic	397514390	RCV000021968;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686199	15686199	NM_000060.3:c.836T>G	NP_000051.1:p.Leu279Trp	NC_000003.11:g.15686199T>G	ARUP_BTD:NM_000060.2:c.836T>G	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.865G>C (p.Ala289Pro)	686	BTD	Pathogenic	397514334	RCV000021889;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686228	15686228	NM_000060.3:c.865G>C	NP_000051.1:p.Ala289Pro	NC_000003.11:g.15686228G>C	ARUP_BTD:NM_000060.2:c.865G>C	C0220754 253260 Biotinidase deficiency; CN221809 not provided; CN169374 not specified
NM_000060.3(BTD):c.880A>G (p.Ile294Val)	686	BTD	Pathogenic	35976361	RCV000021969;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686243	15686243	NM_000060.3:c.880A>G	NP_000051.1:p.Ile294Val	NC_000003.11:g.15686243A>G	ARUP_BTD:NM_000060.2:c.880A>G	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.887T>G (p.Val296Gly)	686	BTD	Pathogenic	397514391	RCV000021970;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686250	15686250	NM_000060.3:c.887T>G	NP_000051.1:p.Val296Gly	NC_000003.11:g.15686250T>G	ARUP_BTD:NM_000060.2:c.887T>G	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.896C>T (p.Ala299Val)	686	BTD	Pathogenic	397514392	RCV000021971; RCV000185807;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004; MedGen:CN221809	3	15686259	15686259	NM_000060.3:c.896C>T	NP_000051.1:p.Ala299Val	NC_000003.11:g.15686259C>T	ARUP_BTD:NM_000060.2:c.896C>T	C0220754 253260 Biotinidase deficiency; CN221809 not provided
NM_000060.3(BTD):c.898A>C (p.Asn300His)	686	BTD	Pathogenic	587783006	RCV000144061;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686261	15686261	NM_000060.3:c.898A>C	NP_000051.1:p.Asn300His	NC_000003.11:g.15686261A>C	-	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.929G>A (p.Gly310Glu)	686	BTD	Pathogenic	397514393	RCV000021972;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686292	15686292	NM_000060.3:c.929G>A	NP_000051.1:p.Gly310Glu	NC_000003.11:g.15686292G>A	ARUP_BTD:NM_000060.2:c.929G>A	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.932G>A (p.Ser311Asn)	686	BTD	Pathogenic	397514394	RCV000021973;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686295	15686295	NM_000060.3:c.932G>A	NP_000051.1:p.Ser311Asn	NC_000003.11:g.15686295G>A	ARUP_BTD:NM_000060.2:c.932G>A	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.933T>G (p.Ser311Arg)	686	BTD	Pathogenic	397514386	RCV000021964; RCV000021975;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686296	15686296	NM_000060.3:c.933T>G	NP_000051.1:p.Ser311Arg	NC_000003.11:g.15686296T>G	ARUP_BTD:NM_000060.2:c.933T>G	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.933T>G (p.Ser311Arg)	686	BTD	Pathogenic	397514386	RCV000021964; RCV000021975;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686296	15686296	NM_000060.3:c.933T>G	NP_000051.1:p.Ser311Arg	NC_000003.11:g.15686296T>G	ARUP_BTD:NM_000060.2:c.933T>G	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.933delT (p.Ser311Argfs)	686	BTD	Likely pathogenic;Pathogenic	397514395	RCV000021974; RCV000078082;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004; MedGen:CN221809	3	15686296	15686296	NM_000060.3:c.933delT	NP_000051.1:p.Ser311Argfs	NC_000003.11:g.15686296delT	HGMD:CD982510	C0220754 253260 Biotinidase deficiency; CN221809 not provided
NM_000060.3(BTD):c.934G>A (p.Gly312Ser)	686	BTD	Pathogenic	397514396	RCV000021976;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686297	15686297	NM_000060.3:c.934G>A	NP_000051.1:p.Gly312Ser	NC_000003.11:g.15686297G>A	ARUP_BTD:NM_000060.2:c.934G>A	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.935G>A (p.Gly312Asp)	686	BTD	Pathogenic	377651057	RCV000021977;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686298	15686298	NM_000060.3:c.935G>A	NP_000051.1:p.Gly312Asp	NC_000003.11:g.15686298G>A	ARUP_BTD:NM_000060.2:c.935G>A	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.968A>G (p.His323Arg)	686	BTD	Pathogenic;Uncertain significance	397507176	RCV000021978; RCV000078083;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004; MedGen:CN221809	3	15686331	15686331	NM_000060.3:c.968A>G	NP_000051.1:p.His323Arg	NC_000003.11:g.15686331A>G	ARUP_BTD:NM_000060.2:c.968A>G,HGMD:CM980256	C0220754 253260 Biotinidase deficiency; CN221809 not provided
NM_000060.3(BTD):c.1001T>A (p.Ile334Asn)	686	BTD	Pathogenic	397514433	RCV000022032;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686364	15686364	NM_000060.3:c.1001T>A	NP_000051.1:p.Ile334Asn	NC_000003.11:g.15686364T>A	ARUP_BTD:NM_000060.2:c.1001T>A	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.1046A>C (p.Asn349Thr)	686	BTD	Pathogenic	200327983	RCV000022033;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686409	15686409	NM_000060.3:c.1046A>C	NP_000051.1:p.Asn349Thr	NC_000003.11:g.15686409A>C	ARUP_BTD:NM_000060.2:c.1046A>C	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.1049delC (p.Ala350Glufs)	686	BTD	Pathogenic	397514397	RCV000021979;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686412	15686412	NM_000060.3:c.1049delC	NP_000051.1:p.Ala350Glufs	NC_000003.11:g.15686412delC	-	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.1052delC (p.Thr351Lysfs)	686	BTD	Pathogenic	397514398	RCV000021980;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686415	15686415	NM_000060.3:c.1052delC	NP_000051.1:p.Thr351Lysfs	NC_000003.11:g.15686415delC	-	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.1096T>C (p.Ser366Pro)	686	BTD	Pathogenic	397514399	RCV000021981;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686459	15686459	NM_000060.3:c.1096T>C	NP_000051.1:p.Ser366Pro	NC_000003.11:g.15686459T>C	ARUP_BTD:NM_000060.2:c.1096T>C	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.1106C>T (p.Pro369Leu)	686	BTD	Pathogenic	397514400	RCV000021982;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686469	15686469	NM_000060.3:c.1106C>T	NP_000051.1:p.Pro369Leu	NC_000003.11:g.15686469C>T	ARUP_BTD:NM_000060.2:c.1106C>T	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.1157G>A (p.Trp386Ter)	686	BTD	Pathogenic	397514401	RCV000021983;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686520	15686520	NM_000060.3:c.1157G>A	NP_000051.1:p.Trp386Ter	NC_000003.11:g.15686520G>A	ARUP_BTD:NM_000060.2:c.1157G>A	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.1158G>A (p.Trp386Ter)	686	BTD	Pathogenic	397514434	RCV000032015;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686521	15686521	NM_000060.3:c.1158G>A	NP_000051.1:p.Trp386Ter	NC_000003.11:g.15686521G>A	ARUP_BTD:NM_000060.2:c.1158G>A	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.1171C>T (p.Pro391Ser)	686	BTD	Benign;Pathogenic	35034250	RCV000021984; RCV000021985;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686534	15686534	NM_000060.3:c.1171C>T	NP_000051.1:p.Pro391Ser	NC_000003.11:g.15686534C>T	ARUP_BTD:NM_000060.2:c.1171C>T	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.1171C>T (p.Pro391Ser)	686	BTD	Benign;Pathogenic	35034250	RCV000021984; RCV000021985;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686534	15686534	NM_000060.3:c.1171C>T	NP_000051.1:p.Pro391Ser	NC_000003.11:g.15686534C>T	ARUP_BTD:NM_000060.2:c.1171C>T	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.1191_1192delGA (p.Glu397Aspfs)	686	BTD	Pathogenic	397514403	RCV000021986;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686554	15686555	NM_000060.3:c.1191_1192delGA	NP_000051.1:p.Glu397Aspfs	NC_000003.11:g.15686554_15686555delGA	-	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.1205A>G (p.Asn402Ser)	686	BTD	Pathogenic	201023772	RCV000021987;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686568	15686568	NM_000060.3:c.1205A>G	NP_000051.1:p.Asn402Ser	NC_000003.11:g.15686568A>G	ARUP_BTD:NM_000060.2:c.1205A>G	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.1207T>G (p.Phe403Val)	686	BTD	Pathogenic	104893686	RCV000001981; RCV000185810;	Y	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004; MedGen:CN221809	3	15686570	15686570	NM_000060.3:c.1207T>G	NP_000051.1:p.Phe403Val	NC_000003.11:g.15686570T>G	ARUP_BTD:NM_000060.2:c.1207T>G,OMIM Allelic Variant:609019.0009	C0220754 253260 Biotinidase deficiency; CN221809 not provided
NM_000060.3(BTD):c.1207T>G (p.Phe403Val)	686	BTD	Pathogenic	104893686	RCV000001981; RCV000185810;	Y	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004; MedGen:CN221809	3	15686570	15686570	NM_000060.3:c.1207T>G	NP_000051.1:p.Phe403Val	NC_000003.11:g.15686570T>G	ARUP_BTD:NM_000060.2:c.1207T>G,OMIM Allelic Variant:609019.0009	C0220754 253260 Biotinidase deficiency; CN221809 not provided
NM_000060.3(BTD):c.1211C>T (p.Thr404Ile)	686	BTD	Pathogenic	397514405	RCV000021990;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686574	15686574	NM_000060.3:c.1211C>T	NP_000051.1:p.Thr404Ile	NC_000003.11:g.15686574C>T	ARUP_BTD:NM_000060.2:c.1211C>T	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.1214T>C (p.Leu405Pro)	686	BTD	Pathogenic	397514406	RCV000021991;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686577	15686577	NM_000060.3:c.1214T>C	NP_000051.1:p.Leu405Pro	NC_000003.11:g.15686577T>C	ARUP_BTD:NM_000060.2:c.1214T>C	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.1227_1241delGGGAAAGGAAGGCTAins11 (p.?)	686	BTD	Pathogenic	672601248	RCV000021992;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686590	15686604	NM_000060.3:c.1227_1241delGGGAAAGGAAGGCTAins11	NP_000051.1:p.?		-	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.1227_1241delGGGAAAGGAAGGCTAinsTTCCAATGGCC (p.Trp409Cysfs)	686	BTD	Likely pathogenic	672601248	RCV000169138;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686590	15686604	NM_000060.3:c.1227_1241delGGGAAAGGAAGGCTAinsTTCCAATGGCC	NP_000051.1:p.Trp409Cysfs		-	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.1237G>A (p.Gly413Ser)	686	BTD	Pathogenic	374141881	RCV000032020;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686600	15686600	NM_000060.3:c.1237G>A	NP_000051.1:p.Gly413Ser	NC_000003.11:g.15686600G>A	ARUP_BTD:NM_000060.2:c.1237G>A	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.1239delC (p.Tyr414Ilefs)	686	BTD	Pathogenic	397514407	RCV000021993;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686602	15686602	NM_000060.3:c.1239delC	NP_000051.1:p.Tyr414Ilefs	NC_000003.11:g.15686602delC	-	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.1241_1252delATCTCCACGTCT (p.Tyr414_Val417del)	686	BTD	Pathogenic	397514404	RCV000032016;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686604	15686615	NM_000060.3:c.1241_1252delATCTCCACGTCT	NP_000051.1:p.Tyr414_Val417del	NC_000003.11:g.15686604_15686615delATCTCCACGTCT	-	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.1249G>T (p.Val417Phe)	686	BTD	Pathogenic	397514409	RCV000021995;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686612	15686612	NM_000060.3:c.1249G>T	NP_000051.1:p.Val417Phe	NC_000003.11:g.15686612G>T	ARUP_BTD:NM_000060.2:c.1249G>T	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.1252T>C (p.Cys418Arg)	686	BTD	Pathogenic	397514408	RCV000021994;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686615	15686615	NM_000060.3:c.1252T>C	NP_000051.1:p.Cys418Arg	NC_000003.11:g.15686615T>C	ARUP_BTD:NM_000060.2:c.1252T>C	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.1253G>C (p.Cys418Ser)	686	BTD	Pathogenic	397514410	RCV000021996;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686616	15686616	NM_000060.3:c.1253G>C	NP_000051.1:p.Cys418Ser	NC_000003.11:g.15686616G>C	ARUP_BTD:NM_000060.2:c.1253G>C	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.1264dupC (p.Leu422Profs)	686	BTD	Pathogenic	397514411	RCV000021997;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686627	15686627	NM_000060.3:c.1264dupC	NP_000051.1:p.Leu422Profs	NC_000003.11:g.15686627dupC	-	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.1267T>C (p.Cys423Arg)	686	BTD	Pathogenic	397514412	RCV000021998;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686630	15686630	NM_000060.3:c.1267T>C	NP_000051.1:p.Cys423Arg	NC_000003.11:g.15686630T>C	ARUP_BTD:NM_000060.2:c.1267T>C	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.1268G>C (p.Cys423Ser)	686	BTD	Pathogenic	397514413	RCV000021999;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686631	15686631	NM_000060.3:c.1268G>C	NP_000051.1:p.Cys423Ser	NC_000003.11:g.15686631G>C	ARUP_BTD:NM_000060.2:c.1268G>C	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.1271G>C (p.Cys424Ser)	686	BTD	Pathogenic	397514335	RCV000021890; RCV000022001;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686634	15686634	NM_000060.3:c.1271G>C	NP_000051.1:p.Cys424Ser	NC_000003.11:g.15686634G>A,NC_000003.11:g.15686634G>C	ARUP_BTD:NM_000060.2:c.1271G>C	C0220754 253260 Biotinidase deficiency; CN221809 not provided; CN169374 not specified
NM_000060.3(BTD):c.1271G>C (p.Cys424Ser)	686	BTD	Pathogenic	397514335	RCV000021890; RCV000022001;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686634	15686634	NM_000060.3:c.1271G>C	NP_000051.1:p.Cys424Ser	NC_000003.11:g.15686634G>A,NC_000003.11:g.15686634G>C	ARUP_BTD:NM_000060.2:c.1271G>C	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.1271G>A (p.Cys424Tyr)	686	BTD	Pathogenic	397514335	RCV000022000;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686634	15686634	NM_000060.3:c.1271G>A	NP_000051.1:p.Cys424Tyr	NC_000003.11:g.15686634G>A,NC_000003.11:g.15686634G>C	ARUP_BTD:NM_000060.2:c.1271G>A	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.1275T>G (p.Tyr425Ter)	686	BTD	Pathogenic	397514414	RCV000022002;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686638	15686638	NM_000060.3:c.1275T>G	NP_000051.1:p.Tyr425Ter	NC_000003.11:g.15686638T>G	ARUP_BTD:NM_000060.2:c.1275T>G	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.1284C>A (p.Tyr428Ter)	686	BTD	Pathogenic	35145938	RCV000022003;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686647	15686647	NM_000060.3:c.1284C>A	NP_000051.1:p.Tyr428Ter	NC_000003.11:g.15686647C>A,NC_000003.11:g.15686647C>T	ARUP_BTD:NM_000060.2:c.1284C>A	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.1284C>T (p.Tyr428Tyr=)	686	BTD	Benign;Likely benign	35145938	RCV000032025; RCV000078063;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004; MedGen:CN169374	3	15686647	15686647	NM_000060.3:c.1284C>T	NP_000051.1:p.Tyr428Tyr=	NC_000003.11:g.15686647C>A,NC_000003.11:g.15686647C>T	-	C0220754 253260 Biotinidase deficiency; CN169374 not specified
NM_000060.3(BTD):c.1313A>G (p.Tyr438Cys)	686	BTD	Pathogenic	397514415	RCV000022004;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686676	15686676	NM_000060.3:c.1313A>G	NP_000051.1:p.Tyr438Cys	NC_000003.11:g.15686676A>G	ARUP_BTD:NM_000060.2:c.1313A>G	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.1314T>A (p.Tyr438Ter)	686	BTD	Likely pathogenic;Pathogenic	397514416	RCV000022005;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686677	15686677	NM_000060.3:c.1314T>A	NP_000051.1:p.Tyr438Ter	NC_000003.11:g.15686677T>A	ARUP_BTD:NM_000060.2:c.1314T>A	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.1330G>C (p.Asp444His)	686	BTD	Pathogenic	13078881	RCV000001977; RCV000078064; RCV000001981; RCV000021912; RCV000021936; RCV000021952; RCV000021933;	Y	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004; MedGen:CN221809	3	15686693	15686693	NM_000060.3:c.1330G>C	NP_000051.1:p.Asp444His	NC_000003.11:g.15686693G>C	ARUP_BTD:NM_000060.2:c.1330G>C,HGMD:CM980257,OMIM Allelic Variant:609019.0005,OMIM Allelic Variant:609019.0009	C0220754 253260 Biotinidase deficiency; CN221809 not provided
NM_000060.3(BTD):c.1330G>C (p.Asp444His)	686	BTD	Pathogenic	13078881	RCV000001977; RCV000078064; RCV000001981; RCV000021912; RCV000021936; RCV000021952; RCV000021933;	Y	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004; MedGen:CN221809	3	15686693	15686693	NM_000060.3:c.1330G>C	NP_000051.1:p.Asp444His	NC_000003.11:g.15686693G>C	ARUP_BTD:NM_000060.2:c.1330G>C,HGMD:CM980257,OMIM Allelic Variant:609019.0005,OMIM Allelic Variant:609019.0009	C0220754 253260 Biotinidase deficiency; CN221809 not provided
NM_000060.3(BTD):c.1330G>C (p.Asp444His)	686	BTD	Pathogenic	13078881	RCV000001977; RCV000078064; RCV000001981; RCV000021912; RCV000021936; RCV000021952; RCV000021933;	Y	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004; MedGen:CN221809	3	15686693	15686693	NM_000060.3:c.1330G>C	NP_000051.1:p.Asp444His	NC_000003.11:g.15686693G>C	ARUP_BTD:NM_000060.2:c.1330G>C,HGMD:CM980257,OMIM Allelic Variant:609019.0005,OMIM Allelic Variant:609019.0009	C0220754 253260 Biotinidase deficiency; CN221809 not provided
NM_000060.3(BTD):c.1330G>C (p.Asp444His)	686	BTD	Pathogenic	13078881	RCV000001977; RCV000078064; RCV000001981; RCV000021912; RCV000021936; RCV000021952; RCV000021933;	Y	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004; MedGen:CN221809	3	15686693	15686693	NM_000060.3:c.1330G>C	NP_000051.1:p.Asp444His	NC_000003.11:g.15686693G>C	ARUP_BTD:NM_000060.2:c.1330G>C,HGMD:CM980257,OMIM Allelic Variant:609019.0005,OMIM Allelic Variant:609019.0009	C0220754 253260 Biotinidase deficiency; CN221809 not provided
NM_000060.3(BTD):c.1330G>C (p.Asp444His)	686	BTD	Pathogenic	13078881	RCV000001977; RCV000078064; RCV000001981; RCV000021912; RCV000021936; RCV000021952; RCV000021933;	Y	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004; MedGen:CN221809	3	15686693	15686693	NM_000060.3:c.1330G>C	NP_000051.1:p.Asp444His	NC_000003.11:g.15686693G>C	ARUP_BTD:NM_000060.2:c.1330G>C,HGMD:CM980257,OMIM Allelic Variant:609019.0005,OMIM Allelic Variant:609019.0009	C0220754 253260 Biotinidase deficiency; CN221809 not provided
NM_000060.3(BTD):c.1330G>C (p.Asp444His)	686	BTD	Pathogenic	13078881	RCV000001977; RCV000078064; RCV000001981; RCV000021912; RCV000021936; RCV000021952; RCV000021933;	Y	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004; MedGen:CN221809	3	15686693	15686693	NM_000060.3:c.1330G>C	NP_000051.1:p.Asp444His	NC_000003.11:g.15686693G>C	ARUP_BTD:NM_000060.2:c.1330G>C,HGMD:CM980257,OMIM Allelic Variant:609019.0005,OMIM Allelic Variant:609019.0009	C0220754 253260 Biotinidase deficiency; CN221809 not provided
NM_000060.3(BTD):c.1333G>A (p.Gly445Arg)	686	BTD	Pathogenic	397514417	RCV000022006;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686696	15686696	NM_000060.3:c.1333G>A	NP_000051.1:p.Gly445Arg	NC_000003.11:g.15686696G>A	ARUP_BTD:NM_000060.2:c.1333G>A	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.1334G>T (p.Gly445Val)	686	BTD	Pathogenic	397514402	RCV000022007; RCV000021985;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686697	15686697	NM_000060.3:c.1334G>T	NP_000051.1:p.Gly445Val	NC_000003.11:g.15686697G>T	ARUP_BTD:NM_000060.2:c.1334G>T	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.1334G>T (p.Gly445Val)	686	BTD	Pathogenic	397514402	RCV000022007; RCV000021985;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686697	15686697	NM_000060.3:c.1334G>T	NP_000051.1:p.Gly445Val	NC_000003.11:g.15686697G>T	ARUP_BTD:NM_000060.2:c.1334G>T	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.1339C>T (p.His447Tyr)	686	BTD	Pathogenic	397514418	RCV000022008;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686702	15686702	NM_000060.3:c.1339C>T	NP_000051.1:p.His447Tyr	NC_000003.11:g.15686702C>T	ARUP_BTD:NM_000060.2:c.1339C>T	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.1352G>A (p.Gly451Asp)	686	BTD	Pathogenic	397514419	RCV000022009;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686715	15686715	NM_000060.3:c.1352G>A	NP_000051.1:p.Gly451Asp	NC_000003.11:g.15686715G>A	ARUP_BTD:NM_000060.2:c.1352G>A	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.1361A>C (p.Tyr454Ser)	686	BTD	Pathogenic	397514345	RCV000021903;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686724	15686724	NM_000060.3:c.1361A>C	NP_000051.1:p.Tyr454Ser	NC_000003.11:g.15686724A>C	ARUP_BTD:NM_000060.2:c.1361A>C	C0220754 253260 Biotinidase deficiency; CN221809 not provided
NM_000060.3(BTD):c.1368A>C (p.Gln456His)	686	BTD	Pathogenic	80338685	RCV000001979; RCV000078065;	Y	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004; MedGen:CN221809	3	15686731	15686731	NM_000060.3:c.1368A>C	NP_000051.1:p.Gln456His	NC_000003.11:g.15686731A>C	ARUP_BTD:NM_000060.2:c.1368A>C,HGMD:CM970190,OMIM Allelic Variant:609019.0007	C0220754 253260 Biotinidase deficiency; CN221809 not provided
NM_000060.3(BTD):c.1369G>A (p.Val457Met)	686	BTD	Pathogenic	146600671	RCV000022010;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686732	15686732	NM_000060.3:c.1369G>A	NP_000051.1:p.Val457Met	NC_000003.11:g.15686732G>A	ARUP_BTD:NM_000060.2:c.1369G>A	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.1372dupT (p.Cys458Leufs)	686	BTD	Pathogenic	587783007	RCV000144062;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686735	15686735	NM_000060.3:c.1372dupT	NP_000051.1:p.Cys458Leufs	NC_000003.11:g.15686735dupT	-	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.1384delA (p.Arg462Glyfs)	686	BTD	Pathogenic	397514420	RCV000022011;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686747	15686747	NM_000060.3:c.1384delA	NP_000051.1:p.Arg462Glyfs	NC_000003.11:g.15686747delA	-	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.1388G>A (p.Cys463Tyr)	686	BTD	Pathogenic	397514421	RCV000022012;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686751	15686751	NM_000060.3:c.1388G>A	NP_000051.1:p.Cys463Tyr	NC_000003.11:g.15686751G>A	ARUP_BTD:NM_000060.2:c.1388G>A	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.1394dupG (p.Leu466Serfs)	686	BTD	Pathogenic	397514440	RCV000032023;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686757	15686757	NM_000060.3:c.1394dupG	NP_000051.1:p.Leu466Serfs	NC_000003.11:g.15686757dupG	-	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.1413T>C (p.Cys471Cys=)	686	BTD	Benign	3817641	RCV000022013; RCV000078067;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004; MedGen:CN169374	3	15686776	15686776	NM_000060.3:c.1413T>C	NP_000051.1:p.Cys471Cys=	NC_000003.11:g.15686776T>C	ARUP_BTD:NM_000060.2:c.1413T>C	C0220754 253260 Biotinidase deficiency; CN169374 not specified
NM_000060.3(BTD):c.1432G>C (p.Ala478Pro)	686	BTD	Pathogenic	181396238	RCV000022014;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686795	15686795	NM_000060.3:c.1432G>C	NP_000051.1:p.Ala478Pro	NC_000003.11:g.15686795G>A,NC_000003.11:g.15686795G>C	ARUP_BTD:NM_000060.2:c.1432G>C	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.1432G>A (p.Ala478Thr)	686	BTD	Pathogenic	181396238	RCV000022034;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686795	15686795	NM_000060.3:c.1432G>A	NP_000051.1:p.Ala478Thr	NC_000003.11:g.15686795G>A,NC_000003.11:g.15686795G>C	ARUP_BTD:NM_000060.2:c.1432G>A	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.1455C>G (p.His485Gln)	686	BTD	Pathogenic	201604102	RCV000022015;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686818	15686818	NM_000060.3:c.1455C>G	NP_000051.1:p.His485Gln	NC_000003.11:g.15686818C>G	ARUP_BTD:NM_000060.2:c.1455C>G	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.1459T>C (p.Trp487Arg)	686	BTD	Pathogenic	397514422	RCV000022016;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686822	15686822	NM_000060.3:c.1459T>C	NP_000051.1:p.Trp487Arg	NC_000003.11:g.15686822T>C	ARUP_BTD:NM_000060.2:c.1459T>C	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.1459delT (p.Trp487Glyfs)	686	BTD	Pathogenic	397514423	RCV000022017;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686822	15686822	NM_000060.3:c.1459delT	NP_000051.1:p.Trp487Glyfs	NC_000003.11:g.15686822delT	-	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.1463G>A (p.Gly488Asp)	686	BTD	Pathogenic	397514424	RCV000022018;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686826	15686826	NM_000060.3:c.1463G>A	NP_000051.1:p.Gly488Asp	NC_000003.11:g.15686826G>A	ARUP_BTD:NM_000060.2:c.1463G>A	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.1466A>C (p.Asn489Thr)	686	BTD	Pathogenic	104893692	RCV000001980;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686829	15686829	NM_000060.3:c.1466A>C	NP_000051.1:p.Asn489Thr	NC_000003.11:g.15686829A>C	ARUP_BTD:NM_000060.2:c.1466A>C,OMIM Allelic Variant:609019.0008	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.1489C>T (p.Pro497Ser)	686	BTD	Pathogenic	138818907	RCV000022019; RCV000078068;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004; MedGen:CN221809	3	15686852	15686852	NM_000060.3:c.1489C>T	NP_000051.1:p.Pro497Ser	NC_000003.11:g.15686852C>T	ARUP_BTD:NM_000060.2:c.1489C>T,HGMD:CM993566	C0220754 253260 Biotinidase deficiency; CN221809 not provided
NM_000060.3(BTD):c.1493dupT (p.Leu498Phefs)	686	BTD	Pathogenic	397514425	RCV000022020;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686856	15686856	NM_000060.3:c.1493dupT	NP_000051.1:p.Leu498Phefs	NC_000003.11:g.15686856dupT	-	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.1508_1512delGGATG (p.Gly503Aspfs)	686	BTD	Pathogenic	398123138	RCV000178031; RCV000078069;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004; MedGen:CN221809	3	15686871	15686875	NM_000060.3:c.1508_1512delGGATG	NP_000051.1:p.Gly503Aspfs	NC_000003.11:g.15686871_15686875delGGATG	-	C0220754 253260 Biotinidase deficiency; CN221809 not provided
NM_000060.3(BTD):c.1511T>A (p.Met504Lys)	686	BTD	Pathogenic	397514426	RCV000022021;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686874	15686874	NM_000060.3:c.1511T>A	NP_000051.1:p.Met504Lys	NC_000003.11:g.15686874T>A	ARUP_BTD:NM_000060.2:c.1511T>A	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.1531C>G (p.Gln511Glu)	686	BTD	Pathogenic	397514427	RCV000022022;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686894	15686894	NM_000060.3:c.1531C>G	NP_000051.1:p.Gln511Glu	NC_000003.11:g.15686894C>G	-	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.1595C>T (p.Thr532Met)	686	BTD	Pathogenic	104893688	RCV000001974; RCV000185809;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004; MedGen:CN221809	3	15686958	15686958	NM_000060.3:c.1595C>T	NP_000051.1:p.Thr532Met	NC_000003.11:g.15686958C>T	ARUP_BTD:NM_000060.2:c.1595C>T,OMIM Allelic Variant:609019.0011	C0220754 253260 Biotinidase deficiency; CN221809 not provided
NM_000060.3(BTD):c.1610G>A (p.Gly537Glu)	686	BTD	Pathogenic	397514428	RCV000022023;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686973	15686973	NM_000060.3:c.1610G>A	NP_000051.1:p.Gly537Glu	NC_000003.11:g.15686973G>A	ARUP_BTD:NM_000060.2:c.1610G>A	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.1612C>T (p.Arg538Cys)	686	BTD	Pathogenic	80338686	RCV000001975; RCV000078070;	Y	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004; MedGen:CN221809	3	15686975	15686975	NM_000060.3:c.1612C>T	NP_000051.1:p.Arg538Cys	NC_000003.11:g.15686975C>A,NC_000003.11:g.15686975C>T	ARUP_BTD:NM_000060.2:c.1612C>T,HGMD:CM970191,OMIM Allelic Variant:609019.0003	C0220754 253260 Biotinidase deficiency; CN221809 not provided
NM_000060.3(BTD):c.1613G>A (p.Arg538His)	686	BTD	Pathogenic	397514429	RCV000022024;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686976	15686976	NM_000060.3:c.1613G>A	NP_000051.1:p.Arg538His	NC_000003.11:g.15686976G>A	ARUP_BTD:NM_000060.2:c.1613G>A	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.1616dupT (p.Leu539Phefs)	686	BTD	Pathogenic	397514430	RCV000022025;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686979	15686979	NM_000060.3:c.1616dupT	NP_000051.1:p.Leu539Phefs	NC_000003.11:g.15686979dupT	-	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.1619A>G (p.Tyr540Cys)	686	BTD	Pathogenic	397514431	RCV000022026;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686982	15686982	NM_000060.3:c.1619A>G	NP_000051.1:p.Tyr540Cys	NC_000003.11:g.15686982A>G	ARUP_BTD:NM_000060.2:c.1619A>G	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.1627G>C (p.Asp543His)	686	BTD	Pathogenic	397514432	RCV000022027;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004	3	15686990	15686990	NM_000060.3:c.1627G>C	NP_000051.1:p.Asp543His	NC_000003.11:g.15686990G>C	ARUP_BTD:NM_000060.2:c.1627G>C	C0220754 253260 Biotinidase deficiency
NM_000060.3(BTD):c.1629C>A (p.Asp543Glu)	686	BTD	Likely pathogenic;Uncertain significance	146136265	RCV000022028; RCV000078071;	N	MedGen:C0220754,OMIM:253260,ORPHA:79241,SNOMED CT:8808004; MedGen:CN221809	3	15686992	15686992	NM_000060.3:c.1629C>A	NP_000051.1:p.Asp543Glu	NC_000003.11:g.15686992C>A	ARUP_BTD:NM_000060.2:c.1629C>A	C0220754 253260 Biotinidase deficiency; CN221809 not provided