"Ambry Genetics"[submitter] AND "BCS1L"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2283199	NM_001079866.2(BCS1L):c.95C>T (p.Ala32Val)	BCS1L (A32V)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 214160	NM_001079866.2(BCS1L):c.205C>T (p.Arg69Cys)	BCS1L (R69C)	Single nucleotide variant (missense variant +3 more)	Pili torti-deafness syndrome +4 more	GConflicting classifications of pathogenicity
Select item 56412	NM_001079866.2(BCS1L):c.320+1G>T	BCS1L	Single nucleotide variant (splice donor variant +1 more)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 2045589	NM_001079866.2(BCS1L):c.326G>A (p.Arg109Gln)	BCS1L (R109Q)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2398294	NM_001079866.2(BCS1L):c.331A>C (p.Lys111Gln)	BCS1L (K111Q)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 371616	NM_001079866.2(BCS1L):c.418del (p.Leu140fs)	BCS1L (L140fs +1 more)	Deletion (frameshift variant +3 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2229599	NM_001079866.2(BCS1L):c.461C>A (p.Ala154Asp)	BCS1L (A34D +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1028218	NM_001079866.2(BCS1L):c.696del (p.Gly233fs)	BCS1L (G113fs +2 more)	Deletion (frameshift variant +1 more)	Pili torti-deafness syndrome +4 more	GPathogenic/Likely pathogenic
Select item 2296962	NM_001079866.2(BCS1L):c.752T>C (p.Ile251Thr)	BCS1L (I84T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 520622	NM_001079866.2(BCS1L):c.785_786del (p.Leu261_Ser262insTer)	BCS1L	Microsatellite (nonsense +1 more)	Inborn genetic diseases +1 more	GPathogenic
Select item 2269955	NM_001079866.2(BCS1L):c.1030C>A (p.Pro344Thr)	BCS1L (P177T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2066137	NM_001079866.2(BCS1L):c.1232T>G (p.Ile411Ser)	BCS1L (I291S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance