BCS1L[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 512097	NM_001079866.2(BCS1L):c.-50+282C>T	BCS1L	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2680147	NM_001079866.2(BCS1L):c.-50+326A>G	BCS1L	Single nucleotide variant (5 prime UTR variant +2 more)	Pili torti-deafness syndrome	GLikely pathogenic
Select item 1683618	NM_001079866.2(BCS1L):c.-50+380G>C	BCS1L	Single nucleotide variant (5 prime UTR variant +2 more)	GRACILE syndrome	GUncertain significance
Select item 801896	NM_001079866.2(BCS1L):c.-50+388C>G	BCS1L	Single nucleotide variant (5 prime UTR variant +2 more)	GRACILE syndrome	GLikely pathogenic
Select item 553134	NM_001079866.2(BCS1L):c.-50+405A>G	BCS1L	Single nucleotide variant (5 prime UTR variant +2 more)	GRACILE syndrome +2 more	GConflicting classifications of pathogenicity
Select item 334353	NM_001079866.2(BCS1L):c.-50+425T>C	BCS1L	Single nucleotide variant (5 prime UTR variant +3 more)	Leigh syndrome +2 more	GUncertain significance
Select item 334354	NM_001079866.2(BCS1L):c.-50+458T>G	BCS1L	Single nucleotide variant (5 prime UTR variant +2 more)	Leigh syndrome +2 more	GUncertain significance
Select item 673726	NM_001079866.2(BCS1L):c.-50+541G>A	BCS1L	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1209025	NM_001079866.2(BCS1L):c.-50+555C>A	BCS1L	Single nucleotide variant (intron variant +2 more)	not provided	GLikely benign
Select item 1259989	NM_001079866.2(BCS1L):c.-50+563G>A	BCS1L	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GBenign
Select item 675506	NM_001079866.2(BCS1L):c.-49-595A>G	BCS1L	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 56411	NM_001079866.2(BCS1L):c.-49-539T>A	BCS1L	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 676726	NM_001079866.2(BCS1L):c.-49-435del	BCS1L	Deletion (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1239390	NM_001079866.2(BCS1L):c.-49-390A>G	BCS1L	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 669695	NM_001079866.2(BCS1L):c.-49-327C>T	BCS1L	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GBenign
Select item 1179749	NM_001079866.2(BCS1L):c.-49-80A>G	BCS1L	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GBenign
Select item 390180	NM_001079866.2(BCS1L):c.-49-12C>G	BCS1L	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 214155	NM_001079866.2(BCS1L):c.-43G>A	BCS1L	Single nucleotide variant (5 prime UTR variant +2 more)	Mitochondrial complex III deficiency nuclear type 1 +3 more	GConflicting classifications of pathogenicity
Select item 334355	NM_001079866.2(BCS1L):c.-14G>A	BCS1L	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2581363	NM_001079866.2(BCS1L):c.1A>T (p.Met1Leu)	BCS1L (M1L)	Single nucleotide variant (missense variant +4 more)	GRACILE syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1350357	NM_001079866.2(BCS1L):c.1A>G (p.Met1Val)	BCS1L (M1V)	Single nucleotide variant (missense variant +4 more)	not provided	GPathogenic
Select item 2040790	NM_001079866.2(BCS1L):c.5C>T (p.Pro2Leu)	BCS1L (P2L)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2139345	NM_001079866.2(BCS1L):c.11C>T (p.Ser4Leu)	BCS1L (S4L)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 762628	NM_001079866.2(BCS1L):c.21T>A (p.Ile7=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1896708	NM_001079866.2(BCS1L):c.24G>A (p.Leu8=)	BCS1L	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 3065324	NM_001079866.2(BCS1L):c.25G>A (p.Ala9Thr)	BCS1L (A9T)	Single nucleotide variant (missense variant +3 more)	Mitochondrial complex III deficiency nuclear type 1	GPathogenic
Select item 2698455	NM_001079866.2(BCS1L):c.28C>T (p.Leu10=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 554718	NM_001079866.2(BCS1L):c.53del (p.Ala18fs)	BCS1L (A18fs)	Deletion (frameshift variant +3 more)	GRACILE syndrome	GLikely pathogenic
Select item 1098243	NM_001079866.2(BCS1L):c.54T>C (p.Ala18=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1013450	NM_001079866.2(BCS1L):c.64C>T (p.Leu22=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not provided	GConflicting classifications of pathogenicity
Select item 2728494	NM_001079866.2(BCS1L):c.67dup (p.Val23fs)	BCS1L (V23fs)	Duplication (frameshift variant +3 more)	not provided	GPathogenic
Select item 2970902	NM_001079866.2(BCS1L):c.75G>C (p.Val25=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2704525	NM_001079866.2(BCS1L):c.78C>T (p.Gly26=)	BCS1L	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 1916983	NM_001079866.2(BCS1L):c.83C>T (p.Ala28Val)	BCS1L (A28V)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
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 1604314	NM_001079866.2(BCS1L):c.96C>T (p.Ala32=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1503468	NM_001079866.2(BCS1L):c.101A>G (p.Lys34Arg)	BCS1L (K34R)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2783255	NM_001079866.2(BCS1L):c.102G>A (p.Lys34=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 6172	NM_001079866.2(BCS1L):c.103G>C (p.Gly35Arg)	BCS1L (G35R)	Single nucleotide variant (missense variant +3 more)	Bjornstad syndrome with mild mitochondrial complex III deficiency	GPathogenic
Select item 2897471	NM_001079866.2(BCS1L):c.105T>C (p.Gly35=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2744289	NM_001079866.2(BCS1L):c.108C>G (p.Val36=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1103730	NM_001079866.2(BCS1L):c.111A>G (p.Gln37=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 792707	NM_001079866.2(BCS1L):c.112C>T (p.Leu38=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 334356	NM_001079866.2(BCS1L):c.112C>G (p.Leu38Val)	BCS1L (L38V)	Single nucleotide variant (missense variant +3 more)	Leigh syndrome +2 more	GUncertain significance
Select item 754658	NM_001079866.2(BCS1L):c.118C>T (p.Leu40=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 214156	NM_001079866.2(BCS1L):c.126A>G (p.Ala42=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1810162	NM_001079866.2(BCS1L):c.130C>T (p.Arg44Trp)	BCS1L (R44W)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2755387	NM_001079866.2(BCS1L):c.132G>C (p.Arg44=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2692639	NM_001079866.2(BCS1L):c.133C>G (p.Arg45Gly)	BCS1L (R45G)	Single nucleotide variant (missense variant +3 more)	not provided	GLikely pathogenic
Select item 6168	NM_001079866.2(BCS1L):c.133C>T (p.Arg45Cys)	BCS1L (R45C)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GPathogenic/Likely pathogenic
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 214157	NM_001079866.2(BCS1L):c.142A>G (p.Met48Val)	BCS1L (M48V)	Single nucleotide variant (missense variant +3 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1154787	NM_001079866.2(BCS1L):c.147C>T (p.Ile49=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 6173	NM_001079866.2(BCS1L):c.148A>G (p.Thr50Ala)	BCS1L (T50A)	Single nucleotide variant (missense variant +3 more)	Mitochondrial complex III deficiency nuclear type 1	GPathogenic
Select item 1634474	NM_001079866.2(BCS1L):c.150A>G (p.Thr50=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1613666	NM_001079866.2(BCS1L):c.153G>T (p.Leu51=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1623032	NM_001079866.2(BCS1L):c.159C>A (p.Val53=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
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 2573519	NM_001079866.2(BCS1L):c.167G>A (p.Arg56Gln)	BCS1L (R56Q)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 1805608	NM_001079866.2(BCS1L):c.170A>G (p.Asp57Gly)	BCS1L (D57G)	Single nucleotide variant (missense variant +3 more)	Mitochondrial complex III deficiency nuclear type 1	GLikely pathogenic
Select item 380986	NM_001079866.2(BCS1L):c.171C>T (p.Asp57=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 2987773	NM_001079866.2(BCS1L):c.172A>C (p.Arg58=)	BCS1L	Single nucleotide variant (intron variant +3 more)	not provided	GLikely benign
Select item 3003303	NM_001079866.2(BCS1L):c.174G>A (p.Arg58=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 764652	NM_001079866.2(BCS1L):c.180T>C (p.Tyr60=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1132003	NM_001079866.2(BCS1L):c.183C>T (p.Ala61=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1986475	NM_001079866.2(BCS1L):c.186G>C (p.Trp62Cys)	BCS1L (W62C)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2761342	NM_001079866.2(BCS1L):c.189G>A (p.Leu63=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1120065	NM_001079866.2(BCS1L):c.193A>C (p.Ser65Arg)	BCS1L (S65R)	Single nucleotide variant (missense variant +3 more)	Mitochondrial complex III deficiency nuclear type 1 +3 more	GUncertain significance
Select item 290322	NM_001079866.2(BCS1L):c.201C>T (p.Leu67=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1575982	NM_001079866.2(BCS1L):c.204C>T (p.Thr68=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 214160	NM_001079866.2(BCS1L):c.205C>T (p.Arg69Cys)	BCS1L (R69C)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 1302936	NM_001079866.2(BCS1L):c.206G>A (p.Arg69His)	BCS1L (R69H)	Single nucleotide variant (missense variant +3 more)	not provided +3 more	GUncertain significance
Select item 283781	NM_001079866.2(BCS1L):c.209A>G (p.His70Arg)	BCS1L (H70R)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1095714	NM_001079866.2(BCS1L):c.210C>T (p.His70=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2004262	NM_001079866.2(BCS1L):c.217del (p.Arg73fs)	BCS1L (R73fs)	Deletion (frameshift variant +3 more)	not provided	GPathogenic
Select item 1086868	NM_001079866.2(BCS1L):c.216C>G (p.Thr72=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2041499	NM_001079866.2(BCS1L):c.217C>G (p.Arg73Gly)	BCS1L (R73G)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 554974	NM_001079866.2(BCS1L):c.217C>T (p.Arg73Cys)	BCS1L (R73C)	Single nucleotide variant (missense variant +3 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2161937	NM_001079866.2(BCS1L):c.218G>A (p.Arg73His)	BCS1L (R73H)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1319119	NM_001079866.2(BCS1L):c.225G>A (p.Gln75=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not provided	GUncertain significance
Select item 6167	NM_001079866.2(BCS1L):c.232A>G (p.Ser78Gly)	BCS1L (S78G)	Single nucleotide variant (missense variant +3 more)	Mitochondrial complex III deficiency nuclear type 1 +3 more	GPathogenic
Select item 1466631	NM_001079866.2(BCS1L):c.233G>T (p.Ser78Ile)	BCS1L (S78I)	Single nucleotide variant (missense variant +3 more)	not provided	GLikely pathogenic
Select item 2987774	NM_001079866.2(BCS1L):c.234T>C (p.Ser78=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1124949	NM_001079866.2(BCS1L):c.237C>T (p.Val79=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1455266	NM_001079866.2(BCS1L):c.238G>T (p.Glu80Ter)	BCS1L (E80*)	Single nucleotide variant (nonsense +3 more)	not provided	GPathogenic
Select item 1563986	NM_001079866.2(BCS1L):c.243T>C (p.Thr81=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 795707	NM_001079866.2(BCS1L):c.243T>A (p.Thr81=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 371015	NM_001079866.2(BCS1L):c.245C>A (p.Ser82Ter)	BCS1L (S82*)	Single nucleotide variant (nonsense +3 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 2885818	NM_001079866.2(BCS1L):c.246G>A (p.Ser82=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1150636	NM_001079866.2(BCS1L):c.246G>T (p.Ser82=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1453418	NM_001079866.2(BCS1L):c.253C>T (p.Gln85Ter)	BCS1L (Q85*)	Single nucleotide variant (nonsense +3 more)	not provided	GPathogenic
Select item 556141	NM_001079866.2(BCS1L):c.255_257del (p.Gln85del)	BCS1L (Q85del)	Deletion (inframe_deletion +3 more)	GRACILE syndrome +1 more	GUncertain significance
Select item 334357	NM_001079866.2(BCS1L):c.258T>C (p.His86=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2680157	NM_001079866.2(BCS1L):c.268dup (p.Arg90fs)	BCS1L (R90fs)	Duplication (frameshift variant +3 more)	Pili torti-deafness syndrome	GLikely pathogenic
Select item 625207	NM_001079866.2(BCS1L):c.268C>T (p.Arg90Cys)	BCS1L (R90C)	Single nucleotide variant (missense variant +3 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 214165	NM_001079866.2(BCS1L):c.269G>A (p.Arg90His)	BCS1L (R90H)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GLikely pathogenic
Select item 2763612	NM_001079866.2(BCS1L):c.279T>C (p.Thr93=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 969333	NM_001079866.2(BCS1L):c.280_281del (p.Lys94fs)	BCS1L (K94fs)	Deletion (frameshift variant +3 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1968852	NM_001079866.2(BCS1L):c.285T>C (p.Phe95=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign

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