C1864002[trait identifier] AND "Myriad Genetics, Inc."[submitter] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 554577	NM_001079866.2(BCS1L):c.134G>A (p.Arg45His)	BCS1L (R45H)	Single nucleotide variant (missense variant +3 more)	Pili torti-deafness syndrome +3 more	GConflicting classifications of pathogenicity
Select item 6169	NM_001079866.2(BCS1L):c.166C>T (p.Arg56Ter)	BCS1L (R56*)	Single nucleotide variant (nonsense +3 more)	Mitochondrial complex III deficiency nuclear type 1 +5 more	GPathogenic
Select item 214160	NM_001079866.2(BCS1L):c.205C>T (p.Arg69Cys)	BCS1L (R69C)	Single nucleotide variant (missense variant +3 more)	GRACILE syndrome +4 more	GPathogenic/Likely pathogenic
Select item 6167	NM_001079866.2(BCS1L):c.232A>G (p.Ser78Gly)	BCS1L (S78G)	Single nucleotide variant (missense variant +3 more)	Pili torti-deafness syndrome +3 more	GPathogenic
Select item 1724757	NM_001079866.2(BCS1L):c.308_309insTGCGG (p.His104fs)	BCS1L (H104fs)	Insertion (frameshift variant +3 more)	Pili torti-deafness syndrome +2 more	GLikely pathogenic
Select item 1726226	NM_001079866.2(BCS1L):c.402_403insTT (p.Val135fs)	BCS1L (V135fs +1 more)	Insertion (frameshift variant +3 more)	Pili torti-deafness syndrome +2 more	GLikely pathogenic
Select item 1725149	NM_001079866.2(BCS1L):c.476T>A (p.Leu159Ter)	BCS1L (L159* +1 more)	Single nucleotide variant (nonsense +2 more)	Pili torti-deafness syndrome +2 more	GLikely pathogenic
Select item 1724531	NM_001079866.2(BCS1L):c.522_523del (p.Glu175fs)	BCS1L (E175fs +2 more)	Deletion (frameshift variant +1 more)	Pili torti-deafness syndrome +2 more	GLikely pathogenic
Select item 1726500	NM_001079866.2(BCS1L):c.604_605insC (p.Val202fs)	BCS1L (V202fs +2 more)	Insertion (frameshift variant +1 more)	Pili torti-deafness syndrome +2 more	GLikely pathogenic
Select item 1725291	NM_001079866.2(BCS1L):c.702C>A (p.Cys234Ter)	BCS1L (C114* +2 more)	Single nucleotide variant (nonsense +1 more)	Pili torti-deafness syndrome +2 more	GLikely pathogenic
Select item 1724751	NM_001079866.2(BCS1L):c.798_799insCACCGGCCTCCACC (p.Asn267fs)	BCS1L (N100fs +2 more)	Insertion (frameshift variant +1 more)	Pili torti-deafness syndrome +2 more	GLikely pathogenic