C0220754[trait identifier] AND "MGZ Medical Genetics Center"[submitter - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1709090	NM_001370658.1(BTD):c.557T>G (p.Leu186Arg)	BTD (L186R +1 more)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GUncertain significance
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 25031	NM_001370658.1(BTD):c.583C>T (p.Leu195Phe)	BTD (L195F)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency	GPathogenic
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 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 1897	NM_001370658.1(BTD):c.1535C>T (p.Thr512Met)	BTD (T512M)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic

ClinVar