BTD[gene] AND (clinsig_pathogenic[prop] OR clinsig_likely_pathogenic[p - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 6410181.	NM_001370658.1(BTD):c.-18del GRCh37: Chr3:15643400 GRCh38: Chr3:15601893	BTD		Biotinidase deficiency	Pathogenic (Dec 10, 2018)	criteria provided, single submitter
Select item 5521292.	NM_001370658.1(BTD):c.-17_-17+3del GRCh37: Chr3:15643400-15643403 GRCh38: Chr3:15601893-15601896	BTD		Biotinidase deficiency	Likely pathogenic (Feb 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3712723.	NM_001370658.1(BTD):c.-18A>T GRCh37: Chr3:15643400 GRCh38: Chr3:15601893	BTD		Biotinidase deficiency	Likely pathogenic (Aug 12, 2016)	criteria provided, single submitter
Select item 3712364.	NM_001370658.1(BTD):c.-17+1del GRCh37: Chr3:15643401 GRCh38: Chr3:15601894	BTD		Biotinidase deficiency	Likely pathogenic (Aug 3, 2016)	criteria provided, single submitter
Select item 3706135.	NM_001370658.1(BTD):c.-17+1G>T GRCh37: Chr3:15643402 GRCh38: Chr3:15601895	BTD		Biotinidase deficiency	Likely pathogenic (Mar 9, 2016)	criteria provided, single submitter
Select item 3703916.	NM_001370658.1(BTD):c.-17+1G>C GRCh37: Chr3:15643402 GRCh38: Chr3:15601895	BTD		Biotinidase deficiency	Likely pathogenic (Feb 1, 2016)	criteria provided, single submitter
Select item 3703767.	NM_001370658.1(BTD):c.-17+1G>A GRCh37: Chr3:15643402 GRCh38: Chr3:15601895	BTD		Biotinidase deficiency	Likely pathogenic (Sep 2, 2016)	criteria provided, multiple submitters, no conflicts
Select item 10683798.	NM_001370658.1(BTD):c.-17+2T>C GRCh37: Chr3:15643403 GRCh38: Chr3:15601896	BTD		Biotinidase deficiency	Likely pathogenic (Apr 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18959.	NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs) GRCh37: Chr3:15676984-15676990 GRCh38: Chr3:15635477-15635483	BTD	C13fs	not provided, Biotinidase deficiency	Pathogenic (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37390610.	NM_001370658.1(BTD):c.40_41del (p.Gly14fs) GRCh37: Chr3:15676986-15676987 GRCh38: Chr3:15635479-15635480	BTD	G14fs	Biotinidase deficiency	Pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 80194211.	NM_001370658.1(BTD):c.44_45del (p.Cys15fs) GRCh37: Chr3:15676989-15676990 GRCh38: Chr3:15635482-15635483	BTD	C15fs	Biotinidase deficiency	Pathogenic/Likely pathogenic (May 28, 2019)	criteria provided, multiple submitters, no conflicts
Select item 37084712.	NM_001370658.1(BTD):c.47dup (p.Tyr16Ter) GRCh37: Chr3:15676992-15676993 GRCh38: Chr3:15635485-15635486	BTD	Y16*	Biotinidase deficiency	Pathogenic/Likely pathogenic (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 206679713.	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 107565814.	NM_001370658.1(BTD):c.56_59dup (p.Gly21fs) GRCh37: Chr3:15677001-15677002 GRCh38: Chr3:15635494-15635495	BTD	G21fs	Biotinidase deficiency	Pathogenic (Aug 25, 2021)	criteria provided, single submitter
Select item 55020815.	NM_001370658.1(BTD):c.58_59del (p.Leu20fs) GRCh37: Chr3:15677004-15677005 GRCh38: Chr3:15635497-15635498	BTD	L20fs	Biotinidase deficiency	Likely pathogenic (Jan 3, 2017)	criteria provided, single submitter
Select item 3848716.	NM_001370658.1(BTD):c.124G>A (p.Val42Met) GRCh37: Chr3:15677070 GRCh38: Chr3:15635563	BTD	V42M	Biotinidase deficiency	Pathogenic/Likely pathogenic (Apr 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18907217.	NM_001370658.1(BTD):c.142_145dup (p.Leu49fs) GRCh37: Chr3:15677078-15677079 GRCh38: Chr3:15635571-15635572	BTD	L49fs	not provided, Biotinidase deficiency	Pathogenic/Likely pathogenic (Jul 6, 2018)	criteria provided, multiple submitters, no conflicts
Select item 190518.	NM_001370658.1(BTD):c.175C>T (p.Arg59Cys) GRCh37: Chr3:15677121 GRCh38: Chr3:15635614	BTD	R79C, R59C	not provided, Biotinidase deficiency	Pathogenic/Likely pathogenic (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 172416019.	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 15600020.	NM_001370658.1(BTD):c.197T>G (p.Met66Arg) GRCh37: Chr3:15677143 GRCh38: Chr3:15635636	BTD	M66R	Biotinidase deficiency	Likely pathogenic (Jan 17, 2022)	criteria provided, single submitter
Select item 80194321.	NM_001370658.1(BTD):c.203del (p.Gln68fs) GRCh37: Chr3:15677149 GRCh38: Chr3:15635642	BTD	Q68fs	Biotinidase deficiency	Pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 41926722.	NM_001370658.1(BTD):c.206del (p.Asn69fs) GRCh37: Chr3:15677152 GRCh38: Chr3:15635644	BTD	N69fs	not provided	Pathogenic (Jun 12, 2015)	criteria provided, single submitter
Select item 2499323.	NM_001370658.1(BTD):c.218A>G (p.Tyr73Cys) GRCh37: Chr3:15677164 GRCh38: Chr3:15635657	BTD	Y73C	Biotinidase deficiency	Pathogenic/Likely pathogenic (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 172671324.	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 220331225.	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 43945126.	NM_001370658.1(BTD):c.248del (p.Lys83fs) GRCh37: Chr3:15677191 GRCh38: Chr3:15635684	BTD	K83fs	not specified	Likely pathogenic (Aug 10, 2016)	criteria provided, single submitter
Select item 93030527.	NM_001370658.1(BTD):c.249+1G>A GRCh37: Chr3:15677196 GRCh38: Chr3:15635689	BTD		Biotinidase deficiency	Pathogenic (Jul 3, 2019)	criteria provided, single submitter
Select item 37092128.	NM_001370658.1(BTD):c.249+1G>T GRCh37: Chr3:15677196 GRCh38: Chr3:15635689	BTD		Biotinidase deficiency	Likely pathogenic (May 13, 2016)	criteria provided, single submitter
Select item 171156629.	NM_001370658.1(BTD):c.249+2C>G GRCh37: Chr3:15677197 GRCh38: Chr3:15635690	BTD		not provided	Pathogenic (Jul 1, 2022)	criteria provided, single submitter
Select item 55167130.	NM_001370658.1(BTD):c.250-1G>T GRCh37: Chr3:15683414 GRCh38: Chr3:15641907	BTD		Biotinidase deficiency	Likely pathogenic (May 4, 2017)	criteria provided, single submitter
Select item 55409031.	NM_001370658.1(BTD):c.256C>T (p.Gln86Ter) GRCh37: Chr3:15683421 GRCh38: Chr3:15641914	BTD	Q86, Q107	Biotinidase deficiency	Likely pathogenic (Jul 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 180472732.	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 2499733.	NM_001370658.1(BTD):c.274G>C (p.Glu92Gln) GRCh37: Chr3:15683439 GRCh38: Chr3:15641932	BTD	E92Q, E113Q	not provided, Biotinidase deficiency	Likely pathogenic (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 2499934.	NM_001370658.1(BTD):c.281G>T (p.Gly94Val) GRCh37: Chr3:15683446 GRCh38: Chr3:15641939	BTD	G94V, G115V	Inborn genetic diseases, Biotinidase deficiency, not provided	Pathogenic/Likely pathogenic (Sep 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93534135.	NM_001370658.1(BTD):c.282del (p.Ile95fs) GRCh37: Chr3:15683447 GRCh38: Chr3:15641940	BTD	I95fs	Biotinidase deficiency	Pathogenic (Feb 17, 2022)	criteria provided, single submitter
Select item 37008736.	NM_001370658.1(BTD):c.312_315dup (p.Tyr106fs) GRCh37: Chr3:15683476-15683477 GRCh38: Chr3:15641969-15641970	BTD	Y106fs	Biotinidase deficiency	Likely pathogenic (Nov 18, 2015)	criteria provided, single submitter
Select item 58774637.	NM_001370658.1(BTD):c.333del (p.Phe111fs) GRCh37: Chr3:15683498 GRCh38: Chr3:15641991	BTD	F111fs	Biotinidase deficiency	Likely pathogenic (Jul 22, 2021)	criteria provided, single submitter
Select item 190356338.	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 106921839.	NM_001370658.1(BTD):c.359G>A (p.Trp120Ter) GRCh37: Chr3:15683524 GRCh38: Chr3:15642017	BTD	W120, W140, W141*	Biotinidase deficiency	Pathogenic (Aug 27, 2021)	criteria provided, single submitter
Select item 55669440.	NM_001370658.1(BTD):c.360G>A (p.Trp120Ter) GRCh37: Chr3:15683525 GRCh38: Chr3:15642018	BTD	W120, W141	Biotinidase deficiency	Likely pathogenic (Feb 14, 2018)	criteria provided, single submitter
Select item 2500741.	NM_001370658.1(BTD):c.385T>C (p.Phe129Leu) GRCh37: Chr3:15683550 GRCh38: Chr3:15642043	BTD	F129L, F150L	Biotinidase deficiency	Likely pathogenic (Sep 24, 2021)	criteria provided, single submitter
Select item 15600142.	NM_001370658.1(BTD):c.395C>G (p.Thr132Arg) GRCh37: Chr3:15683560 GRCh38: Chr3:15642053	BTD	T132R, T153R	not provided	Likely pathogenic (Apr 30, 2019)	criteria provided, single submitter
Select item 2500943.	NM_001370658.1(BTD):c.399G>A (p.Glu133_Val134=) GRCh37: Chr3:15683564 GRCh38: Chr3:15642057	BTD		Biotinidase deficiency, not provided	Pathogenic/Likely pathogenic (Aug 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 201840544.	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 61966845.	NM_001370658.1(BTD):c.400-2A>G GRCh37: Chr3:15685821 GRCh38: Chr3:15644314	BTD		not provided	Likely pathogenic (May 16, 2018)	criteria provided, single submitter
Select item 2501146.	NM_001370658.1(BTD):c.406C>T (p.Gln136Ter) GRCh37: Chr3:15685829 GRCh38: Chr3:15644322	BTD	Q136*	Biotinidase deficiency	Pathogenic (Mar 13, 2018)	criteria provided, single submitter
Select item 2501247.	NM_001370658.1(BTD):c.409C>T (p.Arg137Cys) GRCh37: Chr3:15685832 GRCh38: Chr3:15644325	BTD	R137C	not provided, Biotinidase deficiency	Pathogenic/Likely pathogenic (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3829048.	NM_001370658.1(BTD):c.410G>A (p.Arg137His) GRCh37: Chr3:15685833 GRCh38: Chr3:15644326	BTD	R137H	not provided, Biotinidase deficiency	Pathogenic (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 57182149.	NM_001370658.1(BTD):c.419G>T (p.Cys140Phe) GRCh37: Chr3:15685842 GRCh38: Chr3:15644335	BTD	C140F	Biotinidase deficiency	Pathogenic (Aug 27, 2021)	criteria provided, single submitter
Select item 134381550.	NM_001370658.1(BTD):c.424G>C (p.Ala142Pro) GRCh37: Chr3:15685847 GRCh38: Chr3:15644340	BTD	A142P, A162P	Biotinidase deficiency	Pathogenic	criteria provided, single submitter
Select item 2501851.	NM_001370658.1(BTD):c.468G>T (p.Lys156Asn) GRCh37: Chr3:15685891 GRCh38: Chr3:15644384	BTD	K156N	Inborn genetic diseases, not provided, Biotinidase deficiency	Pathogenic (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 145380452.	NM_001370658.1(BTD):c.477_478delinsAA (p.Cys159_His160delinsTer) GRCh37: Chr3:15685900-15685901 GRCh38: Chr3:15644393-15644394	BTD	C179, C159	Biotinidase deficiency	Pathogenic (Jul 14, 2021)	criteria provided, single submitter
Select item 2502053.	NM_001370658.1(BTD):c.497G>A (p.Cys166Tyr) GRCh37: Chr3:15685920 GRCh38: Chr3:15644413	BTD	C166Y	not provided, Biotinidase deficiency	Pathogenic/Likely pathogenic (Aug 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 132538154.	NM_001370658.1(BTD):c.500del (p.Pro167fs) GRCh37: Chr3:15685921 GRCh38: Chr3:15644414	BTD	P167fs	Biotinidase deficiency	Pathogenic (Apr 13, 2020)	criteria provided, single submitter
Select item 141444155.	NM_001370658.1(BTD):c.516C>A (p.Tyr172Ter) GRCh37: Chr3:15685939 GRCh38: Chr3:15644432	BTD	Y172, Y192	Biotinidase deficiency	Pathogenic (Dec 15, 2021)	criteria provided, single submitter
Select item 58771656.	NM_001370658.1(BTD):c.522C>G (p.Phe174Leu) GRCh37: Chr3:15685945 GRCh38: Chr3:15644438	BTD	F174L	Biotinidase deficiency	Pathogenic (Apr 22, 2022)	criteria provided, single submitter
Select item 52847857.	NM_001370658.1(BTD):c.527del (p.Thr176fs) GRCh37: Chr3:15685950 GRCh38: Chr3:15644443	BTD	T176fs	Biotinidase deficiency	Pathogenic/Likely pathogenic (Apr 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 83004758.	NM_001370658.1(BTD):c.528_542del (p.Val178_Asn182del) GRCh37: Chr3:15685951-15685965 GRCh38: Chr3:15644444-15644458	BTD		Biotinidase deficiency	Likely pathogenic	criteria provided, single submitter
Select item 58774959.	NM_001370658.1(BTD):c.534_536del (p.Val179del) GRCh37: Chr3:15685957-15685959 GRCh38: Chr3:15644450-15644452	BTD	V179del	not provided, Biotinidase deficiency	Pathogenic/Likely pathogenic (Jul 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 2502660.	NM_001370658.1(BTD):c.535G>A (p.Val179Met) GRCh37: Chr3:15685958 GRCh38: Chr3:15644451	BTD	V179M	not provided, Biotinidase deficiency	Pathogenic/Likely pathogenic (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 170428661.	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 9240062.	NM_001370658.1(BTD):c.566G>A (p.Arg189His) GRCh37: Chr3:15685989 GRCh38: Chr3:15644482	BTD	R189H	not provided, not specified, Biotinidase deficiency	Pathogenic (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3827563.	NM_001370658.1(BTD):c.569A>G (p.Tyr190Cys) GRCh37: Chr3:15685992 GRCh38: Chr3:15644485	BTD	Y190C	not provided, Biotinidase deficiency	Likely pathogenic (Mar 17, 2017)	criteria provided, multiple submitters, no conflicts
Select item 2502864.	NM_001370658.1(BTD):c.571C>T (p.Arg191Cys) GRCh37: Chr3:15685994 GRCh38: Chr3:15644487	BTD	R191C	not provided, Biotinidase deficiency	Pathogenic (Jul 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 59081165.	NM_001370658.1(BTD):c.577del (p.His193fs) GRCh37: Chr3:15686000 GRCh38: Chr3:15644493	BTD	H193fs	Biotinidase deficiency	Pathogenic (Mar 2, 2022)	criteria provided, single submitter
Select item 2503166.	NM_001370658.1(BTD):c.583C>T (p.Leu195Phe) GRCh37: Chr3:15686006 GRCh38: Chr3:15644499	BTD	L195F	Biotinidase deficiency	Pathogenic (Feb 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 140989867.	NM_001370658.1(BTD):c.588C>G (p.Tyr196Ter) GRCh37: Chr3:15686011 GRCh38: Chr3:15644504	BTD	Y196, Y216	Biotinidase deficiency	Pathogenic (Dec 3, 2021)	criteria provided, single submitter
Select item 55729168.	NM_001370658.1(BTD):c.589_591delinsAGTA (p.Phe197fs) GRCh37: Chr3:15686012-15686014 GRCh38: Chr3:15644505-15644507	BTD	F197fs	Biotinidase deficiency	Likely pathogenic (Mar 16, 2018)	criteria provided, single submitter
Select item 15600269.	NM_001370658.1(BTD):c.623A>G (p.Asp208Gly) GRCh37: Chr3:15686046 GRCh38: Chr3:15644539	BTD	D208G	Biotinidase deficiency	Pathogenic	no assertion criteria provided
Select item 15600370.	NM_001370658.1(BTD):c.641C>T (p.Thr214Ile) GRCh37: Chr3:15686064 GRCh38: Chr3:15644557	BTD	T214I	Biotinidase deficiency	Pathogenic/Likely pathogenic (Dec 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 2503671.	NM_001370658.1(BTD):c.649G>A (p.Ala217Thr) GRCh37: Chr3:15686072 GRCh38: Chr3:15644565	BTD	A217T	Biotinidase deficiency	Pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 3828172.	NM_001370658.1(BTD):c.674G>A (p.Cys225Tyr) GRCh37: Chr3:15686097 GRCh38: Chr3:15644590	BTD	C225Y	not provided, Biotinidase deficiency	Pathogenic/Likely pathogenic (May 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 170193073.	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
Select item 204714774.	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 190175.	NM_001370658.1(BTD):c.695A>G (p.Asp232Gly) GRCh37: Chr3:15686118 GRCh38: Chr3:15644611	BTD	D232G	not provided, Biotinidase deficiency	Pathogenic (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80194676.	NM_001370658.1(BTD):c.705C>G (p.Ile235Met) GRCh37: Chr3:15686128 GRCh38: Chr3:15644621	BTD	I235M, I255M	Biotinidase deficiency	Likely pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 106855277.	NM_001370658.1(BTD):c.743dup (p.Tyr248Ter) GRCh37: Chr3:15686165-15686166 GRCh38: Chr3:15644658-15644659	BTD	Y248*	Biotinidase deficiency	Pathogenic (Aug 27, 2021)	criteria provided, single submitter
Select item 2504378.	NM_001370658.1(BTD):c.754T>G (p.Trp252Gly) GRCh37: Chr3:15686177 GRCh38: Chr3:15644670	BTD	W252G	Biotinidase deficiency	Pathogenic (Dec 1, 2021)	criteria provided, single submitter
Select item 244570979.	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 2504480.	NM_001370658.1(BTD):c.772C>G (p.Leu258Val) GRCh37: Chr3:15686195 GRCh38: Chr3:15644688	BTD	L258V	Biotinidase deficiency	Pathogenic (Jul 16, 2018)	criteria provided, single submitter
Select item 80194781.	NM_001370658.1(BTD):c.798del (p.Ala267fs) GRCh37: Chr3:15686219 GRCh38: Chr3:15644712	BTD	A267fs	Biotinidase deficiency	Pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 145941082.	NM_001370658.1(BTD):c.805G>C (p.Ala269Pro) GRCh37: Chr3:15686228 GRCh38: Chr3:15644721	BTD	A269P	Biotinidase deficiency	Pathogenic (Jul 29, 2022)	criteria provided, single submitter
Select item 2504883.	NM_001370658.1(BTD):c.827T>G (p.Val276Gly) GRCh37: Chr3:15686250 GRCh38: Chr3:15644743	BTD	V276G	not provided	Pathogenic (Mar 1, 2021)	criteria provided, single submitter
Select item 15600484.	NM_001370658.1(BTD):c.838A>C (p.Asn280His) GRCh37: Chr3:15686261 GRCh38: Chr3:15644754	BTD	N280H	not provided	Likely pathogenic (Mar 7, 2016)	criteria provided, single submitter
Select item 2505285.	NM_001370658.1(BTD):c.873del (p.Ser291fs) GRCh37: Chr3:15686296 GRCh38: Chr3:15644789	BTD	S291fs	Biotinidase deficiency, not provided	Pathogenic/Likely pathogenic (Sep 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 199863586.	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 187842087.	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 55114988.	NM_001370658.1(BTD):c.932_941del (p.His311fs) GRCh37: Chr3:15686355-15686364 GRCh38: Chr3:15644848-15644857	BTD	H311fs	Biotinidase deficiency	Pathogenic/Likely pathogenic (Dec 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 55361489.	NM_001370658.1(BTD):c.941_942del (p.Ile314fs) GRCh37: Chr3:15686364-15686365 GRCh38: Chr3:15644857-15644858	BTD	I314fs	Biotinidase deficiency	Pathogenic/Likely pathogenic (Mar 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 145353090.	NM_001370658.1(BTD):c.950del (p.Val317fs) GRCh37: Chr3:15686373 GRCh38: Chr3:15644866	BTD	V317fs	Biotinidase deficiency	Pathogenic (Jul 13, 2021)	criteria provided, single submitter
Select item 2505791.	NM_001370658.1(BTD):c.992del (p.Thr331fs) GRCh37: Chr3:15686415 GRCh38: Chr3:15644908	BTD	T331fs	not provided, Biotinidase deficiency	Pathogenic (Jul 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97502592.	NM_001370658.1(BTD):c.1021T>G (p.Phe341Val) GRCh37: Chr3:15686444 GRCh38: Chr3:15644937	BTD	F341V	Biotinidase deficiency	Pathogenic (Aug 6, 2020)	no assertion criteria provided
Select item 243559993.	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 55089494.	NM_001370658.1(BTD):c.1025T>A (p.Leu342Ter) GRCh37: Chr3:15686448 GRCh38: Chr3:15644941	BTD	L342*	Biotinidase deficiency	Pathogenic/Likely pathogenic (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 133001895.	NM_001370658.1(BTD):c.1036_1037dup (p.Gly347fs) GRCh37: Chr3:15686458-15686459 GRCh38: Chr3:15644951-15644952	BTD	G347fs	not provided	Pathogenic (Oct 28, 2020)	criteria provided, single submitter
Select item 55223296.	NM_001370658.1(BTD):c.1066C>T (p.Gln356Ter) GRCh37: Chr3:15686489 GRCh38: Chr3:15644982	BTD	Q356*	Biotinidase deficiency	Pathogenic (May 31, 2017)	criteria provided, single submitter
Select item 37012597.	NM_001370658.1(BTD):c.1069G>T (p.Glu357Ter) GRCh37: Chr3:15686492 GRCh38: Chr3:15644985	BTD	E357*	Biotinidase deficiency	Likely pathogenic (Nov 24, 2015)	criteria provided, single submitter
Select item 201275498.	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 3856999.	NM_001370658.1(BTD):c.1098G>A (p.Trp366Ter) GRCh37: Chr3:15686521 GRCh38: Chr3:15645014	BTD	W366*	Biotinidase deficiency	Pathogenic/Likely pathogenic (May 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1325380100.	NM_001370658.1(BTD):c.1103dup (p.Asn369fs) GRCh37: Chr3:15686525-15686526 GRCh38: Chr3:15645018-15645019	BTD	N369fs	Biotinidase deficiency	Pathogenic (May 24, 2019)	criteria provided, single submitter

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