C0220754[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2680362	NM_001370658.1(BTD):c.-24A>T	BTD (K13*)	Single nucleotide variant (nonsense +3 more)	Biotinidase deficiency	GLikely pathogenic
Select item 371272	NM_001370658.1(BTD):c.-18A>T	BTD	Single nucleotide variant (nonsense +3 more)	Biotinidase deficiency	GLikely pathogenic
Select item 370376	NM_001370658.1(BTD):c.-17+1G>A	BTD	Single nucleotide variant (intron variant +1 more)	Biotinidase deficiency	GPathogenic/Likely pathogenic
Select item 1068379	NM_001370658.1(BTD):c.-17+2T>C	BTD	Single nucleotide variant (splice donor variant +1 more)	Biotinidase deficiency	GPathogenic/Likely pathogenic
Select item 3240981	NM_001370658.1(BTD):c.-6del	BTD	Deletion (frameshift variant +1 more)	Biotinidase deficiency	GLikely pathogenic
Select item 1895	NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs)	BTD (C13fs)	Indel (frameshift variant)	not provided +1 more	GPathogenic
Select item 1899	NM_001370658.1(BTD):c.40G>A (p.Gly14Ser)	BTD (G14S)	Single nucleotide variant (missense variant)	Biotinidase deficiency	GPathogenic/Likely pathogenic
Select item 2680360	NM_001370658.1(BTD):c.52del (p.Val18fs)	BTD (V18fs)	Deletion (frameshift variant)	Biotinidase deficiency	GLikely pathogenic
Select item 38483	NM_001370658.1(BTD):c.68A>G (p.His23Arg)	BTD (H23R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2680359	NM_001370658.1(BTD):c.76G>T (p.Glu26Ter)	BTD (E26*)	Single nucleotide variant (nonsense)	Biotinidase deficiency	GPathogenic
Select item 2680354	NM_001370658.1(BTD):c.111T>G (p.Tyr37Ter)	BTD (Y37*)	Single nucleotide variant (nonsense)	Biotinidase deficiency	GPathogenic
Select item 38487	NM_001370658.1(BTD):c.124G>A (p.Val42Met)	BTD (V42M)	Single nucleotide variant (missense variant)	Biotinidase deficiency	GPathogenic/Likely pathogenic
Select item 2680349	NM_001370658.1(BTD):c.167del (p.Leu56fs)	BTD (L56fs)	Deletion (frameshift variant)	Biotinidase deficiency	GLikely pathogenic
Select item 1905	NM_001370658.1(BTD):c.175C>T (p.Arg59Cys)	BTD (R79C +1 more)	Single nucleotide variant (missense variant)	Biotinidase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 38567	NM_001370658.1(BTD):c.176G>A (p.Arg59His)	BTD (R59H)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 156000	NM_001370658.1(BTD):c.197T>G (p.Met66Arg)	BTD (M66R)	Single nucleotide variant (missense variant)	Biotinidase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2680363	NM_001370658.1(BTD):c.202C>T (p.Gln68Ter)	BTD (Q68*)	Single nucleotide variant (nonsense)	Biotinidase deficiency	GPathogenic
Select item 24993	NM_001370658.1(BTD):c.218A>G (p.Tyr73Cys)	BTD (Y73C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 156006	NM_001370658.1(BTD):c.250-15del	BTD	Deletion (intron variant)	Biotinidase deficiency	GPathogenic/Likely pathogenic
Select item 3240986	NM_001370658.1(BTD):c.253_254dup (p.Gln86fs)	BTD (Q107fs +1 more)	Duplication (frameshift variant)	Biotinidase deficiency	GLikely pathogenic
Select item 801944	NM_001370658.1(BTD):c.262A>G (p.Ile88Val)	BTD (I88V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 24999	NM_001370658.1(BTD):c.281G>T (p.Gly94Val)	BTD (G94V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 1473153	NM_001370658.1(BTD):c.320C>T (p.Pro107Leu)	BTD (P107L +2 more)	Single nucleotide variant (missense variant)	Biotinidase deficiency	GConflicting classifications of pathogenicity
Select item 2680352	NM_001370658.1(BTD):c.322T>G (p.Phe108Val)	BTD (F108V +1 more)	Single nucleotide variant (missense variant)	Biotinidase deficiency	GLikely pathogenic
Select item 587746	NM_001370658.1(BTD):c.333del (p.Phe111fs)	BTD (F111fs +1 more)	Deletion (frameshift variant)	Biotinidase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2680358	NM_001370658.1(BTD):c.346del (p.Gln116fs)	BTD (Q116fs +1 more)	Deletion (frameshift variant)	Biotinidase deficiency	GPathogenic
Select item 1069218	NM_001370658.1(BTD):c.359G>A (p.Trp120Ter)	BTD (W120* +2 more)	Single nucleotide variant (nonsense)	Biotinidase deficiency	GPathogenic
Select item 556694	NM_001370658.1(BTD):c.360G>A (p.Trp120Ter)	BTD (W120* +1 more)	Single nucleotide variant (nonsense)	Biotinidase deficiency	GPathogenic/Likely pathogenic
Select item 25005	NM_001370658.1(BTD):c.383G>A (p.Arg128His)	BTD (R128H +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 25009	NM_001370658.1(BTD):c.399G>A (p.Glu133=)	BTD	Single nucleotide variant (synonymous variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 25011	NM_001370658.1(BTD):c.406C>T (p.Gln136Ter)	BTD (Q136*)	Single nucleotide variant (nonsense +1 more)	Biotinidase deficiency	GPathogenic
Select item 25012	NM_001370658.1(BTD):c.409C>T (p.Arg137Cys)	BTD (R137C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 38290	NM_001370658.1(BTD):c.410G>A (p.Arg137His)	BTD (R137H)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency +1 more	GPathogenic
Select item 2203313	NM_001370658.1(BTD):c.419G>A (p.Cys140Tyr)	BTD (C140Y +1 more)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GLikely pathogenic
Select item 25014	NM_001370658.1(BTD):c.425C>T (p.Ala142Val)	BTD (A142V)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GPathogenic
Select item 38298	NM_001370658.1(BTD):c.451G>A (p.Ala151Thr)	BTD (A151T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2680350	NM_001370658.1(BTD):c.466A>T (p.Lys156Ter)	BTD (K156* +1 more)	Single nucleotide variant (nonsense +1 more)	Biotinidase deficiency	GLikely pathogenic
Select item 25018	NM_001370658.1(BTD):c.468G>T (p.Lys156Asn)	BTD (K156N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GPathogenic
Select item 25020	NM_001370658.1(BTD):c.497G>A (p.Cys166Tyr)	BTD (C166Y)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1414441	NM_001370658.1(BTD):c.516C>A (p.Tyr172Ter)	BTD (Y172* +1 more)	Single nucleotide variant (nonsense +1 more)	Biotinidase deficiency	GPathogenic/Likely pathogenic
Select item 587716	NM_001370658.1(BTD):c.522C>G (p.Phe174Leu)	BTD (F174L)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GPathogenic/Likely pathogenic
Select item 528478	NM_001370658.1(BTD):c.527del (p.Thr176fs)	BTD (T176fs)	Deletion (frameshift variant +1 more)	Biotinidase deficiency	GPathogenic/Likely pathogenic
Select item 25026	NM_001370658.1(BTD):c.535G>A (p.Val179Met)	BTD (V179M)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2070102	NM_001370658.1(BTD):c.545A>T (p.Asn182Ile)	BTD (N182I)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GConflicting classifications of pathogenicity
Select item 458809	NM_001370658.1(BTD):c.565C>T (p.Arg189Cys)	BTD (R189C)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency +3 more	GConflicting classifications of pathogenicity
Select item 92400	NM_001370658.1(BTD):c.566G>A (p.Arg189His)	BTD (R189H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 38275	NM_001370658.1(BTD):c.569A>G (p.Tyr190Cys)	BTD (Y190C)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 25028	NM_001370658.1(BTD):c.571C>T (p.Arg191Cys)	BTD (R191C)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 25029	NM_001370658.1(BTD):c.572G>A (p.Arg191His)	BTD (R191H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 590811	NM_001370658.1(BTD):c.577del (p.His193fs)	BTD (H193fs)	Deletion (frameshift variant +1 more)	Biotinidase deficiency	GPathogenic
Select item 38579	NM_001370658.1(BTD):c.581A>G (p.Asn194Ser)	BTD (N194S)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 25031	NM_001370658.1(BTD):c.583C>T (p.Leu195Phe)	BTD (L195F)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GPathogenic
Select item 557291	NM_001370658.1(BTD):c.589_591delinsAGTA (p.Phe197fs)	BTD (F197fs)	Indel (frameshift variant +1 more)	Biotinidase deficiency	GLikely pathogenic
Select item 2680347	NM_001370658.1(BTD):c.594G>C (p.Glu198Asp)	BTD (E198D)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GLikely pathogenic
Select item 25035	NM_001370658.1(BTD):c.622G>T (p.Asp208Tyr)	BTD (D208Y)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 156003	NM_001370658.1(BTD):c.641C>T (p.Thr214Ile)	BTD (T214I)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GPathogenic/Likely pathogenic
Select item 25036	NM_001370658.1(BTD):c.649G>A (p.Ala217Thr)	BTD (A217T)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GPathogenic/Likely pathogenic
Select item 38281	NM_001370658.1(BTD):c.674G>A (p.Cys225Tyr)	BTD (C225Y)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 3240980	NM_001370658.1(BTD):c.683dup (p.Leu229fs)	BTD (L229fs)	Duplication (frameshift variant +1 more)	Biotinidase deficiency	GLikely pathogenic
Select item 25037	NM_001370658.1(BTD):c.683T>C (p.Ile228Thr)	BTD (I228T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1901	NM_001370658.1(BTD):c.695A>G (p.Asp232Gly)	BTD (D232G)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency +1 more	GPathogenic
Select item 25040	NM_001370658.1(BTD):c.704T>C (p.Ile235Thr)	BTD (I235T)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GConflicting classifications of pathogenicity
Select item 25043	NM_001370658.1(BTD):c.754T>G (p.Trp252Gly)	BTD (W252G)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GPathogenic/Likely pathogenic
Select item 2445709	NM_001370658.1(BTD):c.755G>A (p.Trp252Ter)	BTD (W252*)	Single nucleotide variant (nonsense +1 more)	Biotinidase deficiency	GPathogenic/Likely pathogenic
Select item 25044	NM_001370658.1(BTD):c.772C>G (p.Leu258Val)	BTD (L258V)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GPathogenic
Select item 25045	NM_001370658.1(BTD):c.773T>C (p.Leu258Pro)	BTD (L258P)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GConflicting classifications of pathogenicity
Select item 2680346	NM_001370658.1(BTD):c.799del (p.Ala267fs)	BTD (A267fs)	Deletion (frameshift variant +1 more)	Biotinidase deficiency	GLikely pathogenic
Select item 379232	NM_001370658.1(BTD):c.806C>T (p.Ala269Val)	BTD (A269V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 439039	NM_001370658.1(BTD):c.835G>C (p.Ala279Pro)	BTD (A279P)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 25052	NM_001370658.1(BTD):c.873del (p.Ser291fs)	BTD (S291fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3240982	NM_001370658.1(BTD):c.887del (p.Pro296fs)	BTD (P296fs)	Deletion (frameshift variant +1 more)	Biotinidase deficiency	GLikely pathogenic
Select item 3240987	NM_001370658.1(BTD):c.906C>G (p.Tyr302Ter)	BTD (Y302* +1 more)	Single nucleotide variant (nonsense +1 more)	Biotinidase deficiency	GLikely pathogenic
Select item 38278	NM_001370658.1(BTD):c.908A>G (p.His303Arg)	BTD (H303R)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 551149	NM_001370658.1(BTD):c.932_941del (p.His311fs)	BTD (H311fs)	Deletion (frameshift variant +1 more)	Biotinidase deficiency	GPathogenic/Likely pathogenic
Select item 553614	NM_001370658.1(BTD):c.941_942del (p.Ile314fs)	BTD (I314fs)	Deletion (frameshift variant +1 more)	Biotinidase deficiency	GPathogenic/Likely pathogenic
Select item 2680355	NM_001370658.1(BTD):c.946C>T (p.Gln316Ter)	BTD (Q316* +1 more)	Single nucleotide variant (nonsense +1 more)	Biotinidase deficiency	GPathogenic
Select item 25057	NM_001370658.1(BTD):c.992del (p.Thr331fs)	BTD (T331fs)	Deletion (frameshift variant +1 more)	Biotinidase deficiency +1 more	GPathogenic
Select item 3240984	NM_001370658.1(BTD):c.1000del (p.Thr334fs)	BTD (T334fs)	Deletion (frameshift variant +1 more)	Biotinidase deficiency	GLikely pathogenic
Select item 2435599	NM_001370658.1(BTD):c.1030dup (p.Ile344fs)	BTD (I344fs)	Duplication (frameshift variant +1 more)	Biotinidase deficiency	GPathogenic
Select item 1330018	NM_001370658.1(BTD):c.1036_1037dup (p.Gly347fs)	BTD (G347fs)	Duplication (frameshift variant +1 more)	Biotinidase deficiency +1 more	GPathogenic
Select item 3240985	NM_001370658.1(BTD):c.1097G>A (p.Trp366Ter)	BTD (W366*)	Single nucleotide variant (nonsense +1 more)	Biotinidase deficiency	GPathogenic
Select item 38569	NM_001370658.1(BTD):c.1098G>A (p.Trp366Ter)	BTD (W366*)	Single nucleotide variant (nonsense +1 more)	Biotinidase deficiency	GPathogenic/Likely pathogenic
Select item 188805	NM_001370658.1(BTD):c.1167_1181delinsTTCCAATGGCC (p.Trp389fs)	BTD (W389fs)	Indel (frameshift variant +1 more)	Biotinidase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 38573	NM_001370658.1(BTD):c.1181_1192del (p.Tyr394_Val397del)	BTD	Deletion (intron variant)	Biotinidase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 25069	NM_001370658.1(BTD):c.1192T>C (p.Cys398Arg)	BTD (C398R)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GConflicting classifications of pathogenicity
Select item 25071	NM_001370658.1(BTD):c.1193G>C (p.Cys398Ser)	BTD (C398S)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GPathogenic/Likely pathogenic
Select item 25073	NM_001370658.1(BTD):c.1207T>C (p.Cys403Arg)	BTD (C403R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1675907	NM_001370658.1(BTD):c.1211G>C (p.Cys404Ser)	BTD (C404S)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency +1 more	GPathogenic
Select item 371377	NM_001370658.1(BTD):c.1247_1248del (p.Glu416fs)	BTD (E416fs)	Microsatellite (frameshift variant +1 more)	Biotinidase deficiency	GLikely pathogenic
Select item 25080	NM_001370658.1(BTD):c.1254T>A (p.Tyr418Ter)	BTD (Y418*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 371553	NM_001370658.1(BTD):c.1264del (p.Val422fs)	BTD (V422fs)	Deletion (frameshift variant +1 more)	Biotinidase deficiency	GPathogenic/Likely pathogenic
Select item 1900	NM_001370658.1(BTD):c.1270G>C (p.Asp424His)	BTD (D424H)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 25082	NM_001370658.1(BTD):c.1274G>T (p.Gly425Val)	BTD (G425V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 558367	NM_001370658.1(BTD):c.1292_1293del (p.Gly431fs)	BTD (G431fs)	Deletion (frameshift variant +1 more)	Biotinidase deficiency	GPathogenic/Likely pathogenic
Select item 458806	NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys)	BTD (Y434C)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1902	NM_001370658.1(BTD):c.1308A>C (p.Gln436His)	BTD (Q436H)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 1456933	NM_001370658.1(BTD):c.1324del (p.Arg442fs)	BTD (R442fs)	Deletion (frameshift variant +1 more)	Biotinidase deficiency	GPathogenic/Likely pathogenic
Select item 3240983	NM_001370658.1(BTD):c.1334del (p.Gly445fs)	BTD (G445fs)	Deletion (frameshift variant +1 more)	Biotinidase deficiency	GLikely pathogenic
Select item 25108	NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr)	BTD (A458T)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 25089	NM_001370658.1(BTD):c.1372G>C (p.Ala458Pro)	BTD (A458P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic

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