C0220754[trait identifier] AND "Molecular Genetics Diagnostic Laborato - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 156000	NM_001370658.1(BTD):c.197T>G (p.Met66Arg)	BTD (M66R)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 156006	NM_001370658.1(BTD):c.250-15del	BTD	Deletion (intron variant)	Biotinidase deficiency	GPathogenic/Likely pathogenic
Select item 156001	NM_001370658.1(BTD):c.395C>G (p.Thr132Arg)	BTD (T132R +1 more)	Single nucleotide variant (missense variant)	not provided	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/Likely pathogenic
Select item 156002	NM_001370658.1(BTD):c.623A>G (p.Asp208Gly)	BTD (D208G)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GPathogenic
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 156004	NM_001370658.1(BTD):c.838A>C (p.Asn280His)	BTD (N280H)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 156005	NM_001370658.1(BTD):c.1312dup (p.Cys438fs)	BTD (C438fs)	Duplication (frameshift variant +1 more)	Biotinidase deficiency	GPathogenic

ClinVar