ClinVar for MedGen (Select 66323) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25046471.	NM_001370658.1(BTD):c.1352G>T (p.Cys451Phe) GRCh37: Chr3:15686775 GRCh38: Chr3:15645268	BTD	C451F, C471F	Biotinidase deficiency	Likely pathogenic (Jun 13, 2023)	criteria provided, single submitter
Select item 24457092.	NM_001370658.1(BTD):c.755G>A (p.Trp252Ter) GRCh37: Chr3:15686178 GRCh38: Chr3:15644671	BTD	W252*	Biotinidase deficiency	Likely pathogenic (Feb 4, 2023)	criteria provided, single submitter
Select item 24395823.	NM_001370658.1(BTD):c.1459G>A (p.Glu487Lys) GRCh37: Chr3:15686882 GRCh38: Chr3:15645375	BTD	E487K, E507K	Biotinidase deficiency	Uncertain significance (Jun 16, 2022)	criteria provided, single submitter
Select item 24395814.	NM_001370658.1(BTD):c.1110TCC[1] (p.Pro372del) GRCh37: Chr3:15686532-15686534 GRCh38: Chr3:15645025-15645027	BTD	P372del, P392del	Biotinidase deficiency	Uncertain significance (Mar 9, 2020)	criteria provided, single submitter
Select item 24355995.	NM_001370658.1(BTD):c.1030dup (p.Ile344fs) GRCh37: Chr3:15686448-15686449 GRCh38: Chr3:15644941-15644942	BTD	I344fs	Biotinidase deficiency	Pathogenic (Apr 5, 2022)	criteria provided, single submitter
Select item 24355976.	NM_001370658.1(BTD):c.1204dup (p.Leu402fs) GRCh37: Chr3:15686627 GRCh38: Chr3:15645120	BTD	L402fs	Biotinidase deficiency	Pathogenic (Sep 23, 2022)	criteria provided, single submitter
Select item 24222817.	NC_000003.11:g.(?_15643358)_(15643421_?)dup GRCh37: Chr3:15643358-15643421	BTD		Biotinidase deficiency	Uncertain significance (Oct 31, 2022)	criteria provided, single submitter
Select item 24222808.	NC_000003.11:g.(?_15643358)_(15687154_?)dup GRCh37: Chr3:15643358-15687154	BTD		Biotinidase deficiency	Uncertain significance (May 7, 2022)	criteria provided, single submitter
Select item 24222799.	NC_000003.11:g.(?_15512023)_(15687154_?)del GRCh37: Chr3:15512023-15687154	BTD, COLQ, HACL1		Biotinidase deficiency	Pathogenic (Jul 8, 2022)	criteria provided, single submitter
Select item 241967910.	NM_001370658.1(BTD):c.372G>A (p.Leu124=) GRCh37: Chr3:15683537 GRCh38: Chr3:15642030	BTD		Biotinidase deficiency	Likely benign (Aug 7, 2022)	criteria provided, single submitter
Select item 241882611.	NM_001370658.1(BTD):c.1102G>A (p.Val368Met) GRCh37: Chr3:15686525 GRCh38: Chr3:15645018	BTD	V368M, V388M	Biotinidase deficiency	Uncertain significance (Jul 20, 2022)	criteria provided, single submitter
Select item 241522712.	NM_001370658.1(BTD):c.219T>C (p.Tyr73=) GRCh37: Chr3:15677165 GRCh38: Chr3:15635658	BTD		Biotinidase deficiency	Likely benign (Jan 1, 2022)	criteria provided, single submitter
Select item 220332213.	NM_001370658.1(BTD):c.1309G>A (p.Val437Met) GRCh37: Chr3:15686732 GRCh38: Chr3:15645225	BTD	V437M	Biotinidase deficiency	Pathogenic (Jan 20, 2022)	criteria provided, single submitter
Select item 220332114.	NM_001370658.1(BTD):c.1292G>A (p.Gly431Asp) GRCh37: Chr3:15686715 GRCh38: Chr3:15645208	BTD	G431D	Biotinidase deficiency, not specified	Uncertain significance (Jul 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 220332015.	NM_001370658.1(BTD):c.1256C>A (p.Ala419Asp) GRCh37: Chr3:15686679 GRCh38: Chr3:15645172	BTD	A419D, A439D	Biotinidase deficiency	Pathogenic (Jun 25, 2022)	criteria provided, single submitter
Select item 220331916.	NM_001370658.1(BTD):c.1253A>G (p.Tyr418Cys) GRCh37: Chr3:15686676 GRCh38: Chr3:15645169	BTD	Y418C	Biotinidase deficiency	Likely pathogenic (Sep 30, 2022)	criteria provided, single submitter
Select item 220331817.	NM_001370658.1(BTD):c.1154T>C (p.Leu385Pro) GRCh37: Chr3:15686577 GRCh38: Chr3:15645070	BTD	L385P	Biotinidase deficiency	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 220331718.	NM_001370658.1(BTD):c.941T>A (p.Ile314Asn) GRCh37: Chr3:15686364 GRCh38: Chr3:15644857	BTD	I314N	Biotinidase deficiency	Uncertain significance (Feb 9, 2022)	criteria provided, single submitter
Select item 220331619.	NM_001370658.1(BTD):c.750_752delinsCTA (p.Ala251Tyr) GRCh37: Chr3:15686173-15686175 GRCh38: Chr3:15644666-15644668	BTD	A251Y, A271Y	Biotinidase deficiency	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 220331520.	NM_001370658.1(BTD):c.524A>G (p.Asn175Ser) GRCh37: Chr3:15685947 GRCh38: Chr3:15644440	BTD	N175S	Biotinidase deficiency	Uncertain significance (Aug 24, 2022)	criteria provided, single submitter
Select item 220331421.	NM_001370658.1(BTD):c.506A>G (p.Asp169Gly) GRCh37: Chr3:15685929 GRCh38: Chr3:15644422	BTD	D169G	Biotinidase deficiency	Uncertain significance (Aug 17, 2022)	criteria provided, single submitter
Select item 220331322.	NM_001370658.1(BTD):c.419G>A (p.Cys140Tyr) GRCh37: Chr3:15685842 GRCh38: Chr3:15644335	BTD	C140Y, C160Y	Biotinidase deficiency	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter
Select item 220331223.	NM_001370658.1(BTD):c.238G>A (p.Ala80Thr) GRCh37: Chr3:15677184 GRCh38: Chr3:15635677	BTD	A80T	Biotinidase deficiency	Likely pathogenic (Aug 9, 2022)	criteria provided, single submitter
Select item 219942624.	NM_001370658.1(BTD):c.33C>A (p.Phe11Leu) GRCh37: Chr3:15676979 GRCh38: Chr3:15635472	BTD	F31L, F11L	Biotinidase deficiency	Uncertain significance (Feb 25, 2022)	criteria provided, single submitter
Select item 219708825.	NM_001370658.1(BTD):c.727G>T (p.Val243Leu) GRCh37: Chr3:15686150 GRCh38: Chr3:15644643	BTD	V243L, V263L	Biotinidase deficiency, Inborn genetic diseases	Uncertain significance (Jun 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 219130026.	NM_001370658.1(BTD):c.1422T>C (p.Tyr474=) GRCh37: Chr3:15686845 GRCh38: Chr3:15645338	BTD		Biotinidase deficiency	Likely benign (Jun 24, 2022)	criteria provided, single submitter
Select item 218962127.	NM_001370658.1(BTD):c.279T>C (p.Asp93=) GRCh37: Chr3:15683444 GRCh38: Chr3:15641937	BTD		Biotinidase deficiency	Likely benign (Aug 26, 2022)	criteria provided, single submitter
Select item 218799728.	NM_001370658.1(BTD):c.-17+7A>G GRCh37: Chr3:15643408 GRCh38: Chr3:15601901	BTD		Biotinidase deficiency	Likely benign (Mar 15, 2022)	criteria provided, single submitter
Select item 218757129.	NM_001370658.1(BTD):c.400-18C>T GRCh37: Chr3:15685805 GRCh38: Chr3:15644298	BTD		Biotinidase deficiency	Likely benign (Jul 4, 2022)	criteria provided, single submitter
Select item 218478230.	NM_001370658.1(BTD):c.798A>G (p.Lys266=) GRCh37: Chr3:15686221 GRCh38: Chr3:15644714	BTD		Biotinidase deficiency	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 218432531.	NM_001370658.1(BTD):c.373G>C (p.Glu125Gln) GRCh37: Chr3:15683538 GRCh38: Chr3:15642031	BTD	E125Q, E145Q, E146Q	Biotinidase deficiency	Uncertain significance (Dec 25, 2021)	criteria provided, single submitter
Select item 218429732.	NM_001370658.1(BTD):c.-17+13C>G GRCh37: Chr3:15643414 GRCh38: Chr3:15601907	BTD		Biotinidase deficiency	Benign (Jul 4, 2022)	criteria provided, single submitter
Select item 217435533.	NM_001370658.1(BTD):c.490C>T (p.Pro164Ser) GRCh37: Chr3:15685913 GRCh38: Chr3:15644406	BTD	P164S, P184S	Biotinidase deficiency	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 217212934.	NM_001370658.1(BTD):c.-17+16G>A GRCh37: Chr3:15643417 GRCh38: Chr3:15601910	BTD		Biotinidase deficiency	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 217107835.	NM_001370658.1(BTD):c.597A>G (p.Ala199=) GRCh37: Chr3:15686020 GRCh38: Chr3:15644513	BTD		Biotinidase deficiency	Likely benign (Apr 7, 2022)	criteria provided, single submitter
Select item 216822036.	NM_001370658.1(BTD):c.-17+20C>A GRCh37: Chr3:15643421 GRCh38: Chr3:15601914	BTD		Biotinidase deficiency	Likely benign (Jul 29, 2022)	criteria provided, single submitter
Select item 216060037.	NM_001370658.1(BTD):c.405C>G (p.Leu135=) GRCh37: Chr3:15685828 GRCh38: Chr3:15644321	BTD		Biotinidase deficiency	Likely benign (Apr 6, 2022)	criteria provided, single submitter
Select item 215981438.	NM_001370658.1(BTD):c.928A>C (p.Ser310Arg) GRCh37: Chr3:15686351 GRCh38: Chr3:15644844	BTD	S330R, S310R	Biotinidase deficiency	Uncertain significance (Feb 5, 2022)	criteria provided, single submitter
Select item 215958139.	NM_001370658.1(BTD):c.1268T>A (p.Phe423Tyr) GRCh37: Chr3:15686691 GRCh38: Chr3:15645184	BTD	F443Y, F423Y	Biotinidase deficiency	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter
Select item 215908640.	NM_001370658.1(BTD):c.1199A>G (p.Asn400Ser) GRCh37: Chr3:15686622 GRCh38: Chr3:15645115	BTD	N420S, N400S	Biotinidase deficiency	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 215513541.	NM_001370658.1(BTD):c.387C>T (p.Phe129=) GRCh37: Chr3:15683552 GRCh38: Chr3:15642045	BTD		Biotinidase deficiency	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 215168542.	NM_001370658.1(BTD):c.1300T>G (p.Tyr434Asp) GRCh37: Chr3:15686723 GRCh38: Chr3:15645216	BTD	Y434D, Y454D	Biotinidase deficiency	Likely pathogenic (Oct 24, 2022)	criteria provided, single submitter
Select item 214904143.	NM_001370658.1(BTD):c.1314T>C (p.Cys438=) GRCh37: Chr3:15686737 GRCh38: Chr3:15645230	BTD		Biotinidase deficiency	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 214405344.	NM_001370658.1(BTD):c.180A>G (p.Gln60=) GRCh37: Chr3:15677126 GRCh38: Chr3:15635619	BTD		Biotinidase deficiency	Likely benign (May 11, 2022)	criteria provided, single submitter
Select item 213936445.	NM_001370658.1(BTD):c.366A>T (p.Pro122=) GRCh37: Chr3:15683531 GRCh38: Chr3:15642024	BTD		Biotinidase deficiency	Likely benign (Aug 13, 2022)	criteria provided, single submitter
Select item 212228646.	NM_001370658.1(BTD):c.1130_1155dup (p.Val386delinsArgTer) GRCh37: Chr3:15686549-15686550 GRCh38: Chr3:15645042-15645043	BTD		Biotinidase deficiency	Pathogenic (Aug 1, 2022)	criteria provided, single submitter
Select item 211392647.	NM_001370658.1(BTD):c.1177G>C (p.Gly393Arg) GRCh37: Chr3:15686600 GRCh38: Chr3:15645093	BTD	G393R, G413R	Biotinidase deficiency	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 209646448.	NM_001370658.1(BTD):c.351_352delinsTT (p.Val118Phe) GRCh37: Chr3:15683516-15683517 GRCh38: Chr3:15642009-15642010	BTD	V139F, V118F, V138F	Biotinidase deficiency	Uncertain significance (Jun 15, 2022)	criteria provided, single submitter
Select item 209223249.	NM_001370658.1(BTD):c.1380G>A (p.Gly460=) GRCh37: Chr3:15686803 GRCh38: Chr3:15645296	BTD		Biotinidase deficiency	Likely benign (Jun 9, 2022)	criteria provided, single submitter
Select item 209200350.	NM_001370658.1(BTD):c.813C>A (p.Ala271=) GRCh37: Chr3:15686236 GRCh38: Chr3:15644729	BTD		Biotinidase deficiency	Likely benign (Sep 20, 2022)	criteria provided, single submitter
Select item 208317551.	NM_001370658.1(BTD):c.826G>A (p.Val276Ile) GRCh37: Chr3:15686249 GRCh38: Chr3:15644742	BTD	V276I, V296I	Biotinidase deficiency	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 207834652.	NM_001370658.1(BTD):c.558T>A (p.Leu186=) GRCh37: Chr3:15685981 GRCh38: Chr3:15644474	BTD		Biotinidase deficiency	Likely benign (Jan 11, 2022)	criteria provided, single submitter
Select item 207481453.	NM_001370658.1(BTD):c.1346A>G (p.Asp449Gly) GRCh37: Chr3:15686769 GRCh38: Chr3:15645262	BTD	D449G, D469G	Biotinidase deficiency, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Jul 6, 2022)	criteria provided, conflicting interpretations
Select item 207010254.	NM_001370658.1(BTD):c.545A>T (p.Asn182Ile) GRCh37: Chr3:15685968 GRCh38: Chr3:15644461	BTD	N182I	Biotinidase deficiency	Conflicting interpretations of pathogenicity (Jul 11, 2022)	criteria provided, conflicting interpretations
Select item 206679755.	NM_001370658.1(BTD):c.48C>G (p.Tyr16Ter) GRCh37: Chr3:15676994 GRCh38: Chr3:15635487	BTD	Y36, Y16	Biotinidase deficiency	Pathogenic (Dec 30, 2021)	criteria provided, single submitter
Select item 206503756.	NM_001370658.1(BTD):c.1350C>T (p.Thr450=) GRCh37: Chr3:15686773 GRCh38: Chr3:15645266	BTD		Biotinidase deficiency	Likely benign (Jul 13, 2022)	criteria provided, single submitter
Select item 206176857.	NM_001370658.1(BTD):c.-17+8G>C GRCh37: Chr3:15643409 GRCh38: Chr3:15601902	BTD		Biotinidase deficiency	Likely benign (Dec 27, 2021)	criteria provided, single submitter
Select item 206085558.	NM_001370658.1(BTD):c.825C>A (p.Asn275Lys) GRCh37: Chr3:15686248 GRCh38: Chr3:15644741	BTD	N275K, N295K	Biotinidase deficiency	Uncertain significance (Dec 25, 2021)	criteria provided, single submitter
Select item 205834959.	NM_001370658.1(BTD):c.1376C>T (p.Thr459Met) GRCh37: Chr3:15686799 GRCh38: Chr3:15645292	BTD	T459M, T479M	Biotinidase deficiency	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 205732960.	NM_001370658.1(BTD):c.1538C>T (p.Ala513Val) GRCh37: Chr3:15686961 GRCh38: Chr3:15645454	BTD	A533V, A513V	Inborn genetic diseases, Biotinidase deficiency	Uncertain significance (Feb 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 205101961.	NM_001370658.1(BTD):c.-51G>T GRCh37: Chr3:15643367 GRCh38: Chr3:15601860	BTD	A4S	Biotinidase deficiency	Uncertain significance (Jul 31, 2022)	criteria provided, single submitter
Select item 205085962.	NM_001370658.1(BTD):c.113A>G (p.Tyr38Cys) GRCh37: Chr3:15677059 GRCh38: Chr3:15635552	BTD	Y58C, Y38C	Biotinidase deficiency	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 204714763.	NM_001370658.1(BTD):c.686del (p.Leu229fs) GRCh37: Chr3:15686108 GRCh38: Chr3:15644601	BTD	L229fs	Biotinidase deficiency	Pathogenic (Dec 18, 2021)	criteria provided, single submitter
Select item 204398764.	NM_001370658.1(BTD):c.1551G>T (p.Gly517=) GRCh37: Chr3:15686974 GRCh38: Chr3:15645467	BTD		Biotinidase deficiency	Likely benign (Dec 15, 2021)	criteria provided, single submitter
Select item 204340065.	NM_001370658.1(BTD):c.968G>T (p.Gly323Val) GRCh37: Chr3:15686391 GRCh38: Chr3:15644884	BTD	G323V, G343V	Biotinidase deficiency	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 204184566.	NM_001370658.1(BTD):c.347A>G (p.Gln116Arg) GRCh37: Chr3:15683512 GRCh38: Chr3:15642005	BTD	Q116R, Q137R, Q136R	Biotinidase deficiency	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 204056867.	NM_001370658.1(BTD):c.1468G>A (p.Asp490Asn) GRCh37: Chr3:15686891 GRCh38: Chr3:15645384	BTD	D490N, D510N	Biotinidase deficiency	Uncertain significance (Mar 1, 2022)	criteria provided, single submitter
Select item 203239668.	NM_001370658.1(BTD):c.-16-2A>G GRCh37: Chr3:15676929 GRCh38: Chr3:15635422	BTD		Biotinidase deficiency	Uncertain significance (Sep 24, 2022)	criteria provided, single submitter
Select item 202694169.	NM_001370658.1(BTD):c.399+6dup GRCh37: Chr3:15683568-15683569 GRCh38: Chr3:15642061-15642062	BTD	P136fs, P157fs	Biotinidase deficiency	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 202153470.	NM_001370658.1(BTD):c.-16-7A>T GRCh37: Chr3:15676924 GRCh38: Chr3:15635417	BTD		Biotinidase deficiency	Likely benign (Aug 4, 2022)	criteria provided, single submitter
Select item 201840571.	NM_001370658.1(BTD):c.399+2T>G GRCh37: Chr3:15683566 GRCh38: Chr3:15642059	BTD	V155G, V134G	Biotinidase deficiency	Pathogenic (Jul 20, 2022)	criteria provided, single submitter
Select item 201820172.	NM_001370658.1(BTD):c.982G>A (p.Glu328Lys) GRCh37: Chr3:15686405 GRCh38: Chr3:15644898	BTD	E328K, E348K	Biotinidase deficiency	Uncertain significance (Apr 22, 2022)	criteria provided, single submitter
Select item 201629273.	NM_001370658.1(BTD):c.876C>A (p.Gly292=) GRCh37: Chr3:15686299 GRCh38: Chr3:15644792	BTD		Biotinidase deficiency	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 201497974.	NM_001370658.1(BTD):c.1038A>C (p.Ser346=) GRCh37: Chr3:15686461 GRCh38: Chr3:15644954	BTD		Biotinidase deficiency	Likely benign (Jul 8, 2022)	criteria provided, single submitter
Select item 201275475.	NM_001370658.1(BTD):c.1092dup (p.Lys365fs) GRCh37: Chr3:15686513-15686514 GRCh38: Chr3:15645006-15645007	BTD	K365fs	Biotinidase deficiency	Pathogenic (Jun 5, 2022)	criteria provided, single submitter
Select item 199863576.	NM_001370658.1(BTD):c.901dup (p.Trp301fs) GRCh37: Chr3:15686320-15686321 GRCh38: Chr3:15644813-15644814	BTD	W301fs	Biotinidase deficiency	Pathogenic (May 25, 2022)	criteria provided, single submitter
Select item 199499677.	NM_001370658.1(BTD):c.1008A>T (p.Pro336=) GRCh37: Chr3:15686431 GRCh38: Chr3:15644924	BTD		Biotinidase deficiency	Likely benign (May 15, 2022)	criteria provided, single submitter
Select item 199479678.	NM_001370658.1(BTD):c.962C>T (p.Pro321Leu) GRCh37: Chr3:15686385 GRCh38: Chr3:15644878	BTD	P341L, P321L	Biotinidase deficiency	Uncertain significance (May 15, 2022)	criteria provided, single submitter
Select item 198403979.	NM_001370658.1(BTD):c.251A>G (p.Asp84Gly) GRCh37: Chr3:15683416 GRCh38: Chr3:15641909	BTD	D84G, D105G, D104G	Biotinidase deficiency	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter
Select item 197669380.	NM_001370658.1(BTD):c.-16-7A>G GRCh37: Chr3:15676924 GRCh38: Chr3:15635417	BTD		Biotinidase deficiency	Likely benign (Sep 29, 2022)	criteria provided, single submitter
Select item 196384481.	NM_001370658.1(BTD):c.369C>G (p.Cys123Trp) GRCh37: Chr3:15683534 GRCh38: Chr3:15642027	BTD	C144W, C143W, C123W	Biotinidase deficiency	Uncertain significance (Mar 15, 2022)	criteria provided, single submitter
Select item 195982382.	NM_001370658.1(BTD):c.645C>G (p.Pro215=) GRCh37: Chr3:15686068 GRCh38: Chr3:15644561	BTD		Biotinidase deficiency	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 195233883.	NM_001370658.1(BTD):c.719A>C (p.Asp240Ala) GRCh37: Chr3:15686142 GRCh38: Chr3:15644635	BTD	D240A, D260A	Biotinidase deficiency	Uncertain significance (May 14, 2022)	criteria provided, single submitter
Select item 194248484.	NM_001370658.1(BTD):c.965T>C (p.Val322Ala) GRCh37: Chr3:15686388 GRCh38: Chr3:15644881	BTD	V322A, V342A	Biotinidase deficiency	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter
Select item 192302485.	NM_001370658.1(BTD):c.423G>A (p.Met141Ile) GRCh37: Chr3:15685846 GRCh38: Chr3:15644339	BTD	M141I, M161I	Biotinidase deficiency	Uncertain significance (Dec 12, 2021)	criteria provided, single submitter
Select item 192293586.	NM_001370658.1(BTD):c.765G>C (p.Gln255His) GRCh37: Chr3:15686188 GRCh38: Chr3:15644681	BTD	Q255H, Q275H	Biotinidase deficiency	Uncertain significance (Apr 30, 2022)	criteria provided, single submitter
Select item 192217987.	NM_001370658.1(BTD):c.-16-5T>C GRCh37: Chr3:15676926 GRCh38: Chr3:15635419	BTD		Biotinidase deficiency	Likely benign (Sep 22, 2022)	criteria provided, single submitter
Select item 191568788.	NM_001370658.1(BTD):c.340T>C (p.Ser114Pro) GRCh37: Chr3:15683505 GRCh38: Chr3:15641998	BTD	S114P, S134P, S135P	Biotinidase deficiency	Uncertain significance (Dec 18, 2021)	criteria provided, single submitter
Select item 190606789.	NM_001370658.1(BTD):c.630C>T (p.Ile210=) GRCh37: Chr3:15686053 GRCh38: Chr3:15644546	BTD		Biotinidase deficiency	Likely benign (Aug 8, 2022)	criteria provided, single submitter
Select item 190356390.	NM_001370658.1(BTD):c.346C>T (p.Gln116Ter) GRCh37: Chr3:15683511 GRCh38: Chr3:15642004	BTD	Q136, Q116, Q137*	Biotinidase deficiency	Pathogenic (Jun 19, 2022)	criteria provided, single submitter
Select item 187842091.	NM_001370658.1(BTD):c.920dup (p.Asn307fs) GRCh37: Chr3:15686339-15686340 GRCh38: Chr3:15644832-15644833	BTD	N307fs	Biotinidase deficiency	Likely pathogenic (Dec 31, 2022)	criteria provided, single submitter
Select item 180472792.	NM_001370658.1(BTD):c.270del (p.Pro91fs) GRCh37: Chr3:15683433 GRCh38: Chr3:15641926	BTD	P91fs	Biotinidase deficiency	Likely pathogenic (Nov 3, 2022)	criteria provided, single submitter
Select item 172671393.	NM_001370658.1(BTD):c.220G>T (p.Glu74Ter) GRCh37: Chr3:15677166 GRCh38: Chr3:15635659	BTD	E74, E94	Biotinidase deficiency	Likely pathogenic (Dec 30, 2021)	criteria provided, single submitter
Select item 172416094.	NM_001370658.1(BTD):c.177_178del (p.Gln60fs) GRCh37: Chr3:15677123-15677124 GRCh38: Chr3:15635616-15635617	BTD	Q60fs	Biotinidase deficiency	Likely pathogenic (Jan 28, 2022)	criteria provided, single submitter
Select item 171525895.	NM_001370658.1(BTD):c.1068G>C (p.Gln356His) GRCh37: Chr3:15686491 GRCh38: Chr3:15644984	BTD	Q356H, Q376H	Biotinidase deficiency	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 171359396.	NM_001370658.1(BTD):c.494G>A (p.Arg165Lys) GRCh37: Chr3:15685917 GRCh38: Chr3:15644410	BTD	R165K, R185K	Biotinidase deficiency	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 170909097.	NM_001370658.1(BTD):c.557T>G (p.Leu186Arg) GRCh37: Chr3:15685980 GRCh38: Chr3:15644473	BTD	L186R, L206R	Biotinidase deficiency	Uncertain significance (Dec 28, 2021)	criteria provided, single submitter
Select item 170428698.	NM_001370658.1(BTD):c.550G>A (p.Gly184Arg) GRCh37: Chr3:15685973 GRCh38: Chr3:15644466	BTD	G184R, G204R	Biotinidase deficiency	Likely pathogenic (Sep 8, 2002)	no assertion criteria provided
Select item 170303699.	NM_152649.4(MLKL):c.565C>T (p.Pro189Ser) GRCh37: Chr16:74725332 GRCh38: Chr16:74691434	MLKL	P189S	Biotinidase deficiency	Likely benign (Aug 26, 2022)	criteria provided, single submitter
Select item 1701930100.	NM_001370658.1(BTD):c.675C>A (p.Cys225Ter) GRCh37: Chr3:15686098 GRCh38: Chr3:15644591	BTD	C225, C245	Biotinidase deficiency	Likely pathogenic (Feb 1, 2013)	criteria provided, single submitter

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