"Fulgent Genetics, Fulgent Genetics"[submitter] AND "BCS1L"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 898620	NM_001079866.2(BCS1L):c.-85G>A	BCS1L, LOC129935609	Single nucleotide variant (5 prime UTR variant +1 more)	GRACILE syndrome +3 more	GUncertain significance
Select item 6169	NM_001079866.2(BCS1L):c.166C>T (p.Arg56Ter)	BCS1L (R56*)	Single nucleotide variant (nonsense +3 more)	BCS1L-Related Disorders +5 more	GPathogenic
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 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 6167	NM_001079866.2(BCS1L):c.232A>G (p.Ser78Gly)	BCS1L (S78G)	Single nucleotide variant (missense variant +3 more)	not provided +3 more	GPathogenic
Select item 794371	NM_001079866.2(BCS1L):c.348A>G (p.Glu116=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	GRACILE syndrome +3 more	GLikely benign
Select item 863524	NM_001079866.2(BCS1L):c.355C>T (p.Arg119Ter)	BCS1L (R119*)	Single nucleotide variant (nonsense +3 more)	Pili torti-deafness syndrome +3 more	GPathogenic/Likely pathogenic
Select item 646751	NM_001079866.2(BCS1L):c.430C>T (p.Arg144Ter)	BCS1L (R144* +1 more)	Single nucleotide variant (nonsense +3 more)	GRACILE syndrome +3 more	GPathogenic/Likely pathogenic
Select item 420719	NM_001079866.2(BCS1L):c.460+11del	BCS1L	Deletion (intron variant)	GRACILE syndrome +4 more	GLikely benign
Select item 214161	NM_001079866.2(BCS1L):c.499G>A (p.Val167Met)	BCS1L (V167M +1 more)	Single nucleotide variant (missense variant +2 more)	GRACILE syndrome +3 more	GUncertain significance
Select item 6170	NM_001079866.2(BCS1L):c.548G>A (p.Arg183His)	BCS1L (R183H +2 more)	Single nucleotide variant (missense variant +1 more)	Pili torti-deafness syndrome +4 more	GPathogenic
Select item 1429458	NM_001079866.2(BCS1L):c.554G>A (p.Arg185Gln)	BCS1L (R185Q +2 more)	Single nucleotide variant (missense variant +1 more)	GRACILE syndrome +3 more	GUncertain significance
Select item 1369594	NM_001079866.2(BCS1L):c.585G>C (p.Gln195His)	BCS1L (Q75H +2 more)	Single nucleotide variant (missense variant +1 more)	Pili torti-deafness syndrome +3 more	GUncertain significance
Select item 374395	NM_001079866.2(BCS1L):c.598C>T (p.Arg200Ter)	BCS1L (R200* +2 more)	Single nucleotide variant (nonsense +1 more)	Mitochondrial complex III deficiency nuclear type 1 +3 more	GPathogenic/Likely pathogenic
Select item 763606	NM_001079866.2(BCS1L):c.627C>T (p.Ile209=)	BCS1L	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
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 377559	NM_001079866.2(BCS1L):c.702C>T (p.Cys234=)	BCS1L	Single nucleotide variant (synonymous variant +1 more)	Pili torti-deafness syndrome +4 more	GLikely benign
Select item 370247	NM_001079866.2(BCS1L):c.889+1G>T	BCS1L	Single nucleotide variant (splice donor variant)	GRACILE syndrome +3 more	GPathogenic/Likely pathogenic
Select item 1457638	NM_001079866.2(BCS1L):c.916C>T (p.Arg306Cys)	BCS1L (R139C +2 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex III deficiency nuclear type 1 +3 more	GPathogenic/Likely pathogenic
Select item 1071417	NM_001079866.2(BCS1L):c.917G>A (p.Arg306His)	BCS1L (R139H +2 more)	Single nucleotide variant (missense variant +1 more)	Pili torti-deafness syndrome +3 more	GPathogenic/Likely pathogenic
Select item 1320451	NM_001079866.2(BCS1L):c.925T>C (p.Phe309Leu)	BCS1L (F142L +2 more)	Single nucleotide variant (missense variant +1 more)	GRACILE syndrome +3 more	GUncertain significance
Select item 384760	NM_001079866.2(BCS1L):c.985A>G (p.Met329Val)	BCS1L (M329V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 136504	NM_001079866.2(BCS1L):c.1007+16G>A	BCS1L	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 1422746	NM_001079866.2(BCS1L):c.1157G>A (p.Arg386Gln)	BCS1L (R266Q +2 more)	Single nucleotide variant (missense variant +1 more)	GRACILE syndrome +3 more	GUncertain significance

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Items: 24