"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "BCS1L"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 334354	NM_001079866.2(BCS1L):c.-50+458T>G	BCS1L	Single nucleotide variant (5 prime UTR variant +2 more)	Mitochondrial complex III deficiency nuclear type 1 +2 more	GUncertain significance
Select item 559366	NM_001079866.2(BCS1L):c.-49-530C>T	BCS1L	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 6171	NM_001079866.2(BCS1L):c.550C>T (p.Arg184Cys)	BCS1L (R184C +2 more)	Single nucleotide variant (missense variant +1 more)	Pili torti-deafness syndrome +3 more	GPathogenic/Likely pathogenic
Select item 136502	NM_001079866.2(BCS1L):c.628G>A (p.Asp210Asn)	BCS1L (D210N +2 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex III deficiency nuclear type 1 +5 more	GBenign/Likely benign
Select item 666615	NM_001079866.2(BCS1L):c.775T>A (p.Ser259Thr)	BCS1L (S139T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 136503	NM_001079866.2(BCS1L):c.996C>T (p.Asn332=)	BCS1L	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex III deficiency nuclear type 1 +5 more	GBenign
Select item 136505	NM_001079866.2(BCS1L):c.1017T>C (p.Pro339=)	BCS1L	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex III deficiency nuclear type 1 +5 more	GBenign

ClinVar