"GeneDx"[submitter] AND "BCS1L"[gene] - ClinVar

Search results

Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 1262585	NC_000002.12:g.218659583G>A	ZNF142, BCS1L	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 668251	NM_001079866.2(BCS1L):c.-50+7G>C	BCS1L, LOC129935609	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 136506	NM_001079866.2(BCS1L):c.-50+13A>G	BCS1L, LOC129935609	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign
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 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 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 (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1179749	NM_001079866.2(BCS1L):c.-49-80A>G	BCS1L	Single nucleotide variant (5 prime UTR 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)	Leigh syndrome +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 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 214156	NM_001079866.2(BCS1L):c.126A>G (p.Ala42=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not provided +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 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)	GRACILE syndrome +2 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 380986	NM_001079866.2(BCS1L):c.171C>T (p.Asp57=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	Leigh syndrome +4 more	GConflicting classifications of pathogenicity
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 1302936	NM_001079866.2(BCS1L):c.206G>A (p.Arg69His)	BCS1L (R69H)	Single nucleotide variant (missense variant +3 more)	Pili torti-deafness syndrome +3 more	GUncertain significance
Select item 554974	NM_001079866.2(BCS1L):c.217C>T (p.Arg73Cys)	BCS1L (R73C)	Single nucleotide variant (missense variant +3 more)	Mitochondrial complex III deficiency nuclear type 1 +2 more	GConflicting classifications of pathogenicity
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 214165	NM_001079866.2(BCS1L):c.269G>A (p.Arg90His)	BCS1L (R90H)	Single nucleotide variant (missense variant +3 more)	Mitochondrial complex III deficiency nuclear type 1 +1 more	GLikely pathogenic
Select item 3372364	NM_001079866.2(BCS1L):c.280A>G (p.Lys94Glu)	BCS1L (K94E)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 554754	NM_001079866.2(BCS1L):c.291_293del (p.Val98del)	BCS1L (V98del)	Deletion (inframe_deletion +3 more)	not provided +1 more	GUncertain significance
Select item 56412	NM_001079866.2(BCS1L):c.320+1G>T	BCS1L	Single nucleotide variant (splice donor variant +1 more)	Mitochondrial complex III deficiency nuclear type 1 +4 more	GPathogenic/Likely pathogenic
Select item 214166	NM_001079866.2(BCS1L):c.325C>T (p.Arg109Trp)	BCS1L (R109W)	Single nucleotide variant (missense variant +3 more)	Pili torti-deafness syndrome +2 more	GPathogenic/Likely pathogenic
Select item 2045589	NM_001079866.2(BCS1L):c.326G>A (p.Arg109Gln)	BCS1L (R109Q)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 384759	NM_001079866.2(BCS1L):c.383C>T (p.Thr128Met)	BCS1L (T128M +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 381524	NM_001079866.2(BCS1L):c.385G>A (p.Gly129Arg)	BCS1L (G129R +1 more)	Single nucleotide variant (missense variant +3 more)	Leigh syndrome +2 more	GPathogenic/Likely pathogenic
Select item 631845	NM_001079866.2(BCS1L):c.399del (p.Glu133fs)	BCS1L (E13fs +1 more)	Deletion (frameshift variant +3 more)	GRACILE syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1138397	NM_001079866.2(BCS1L):c.435G>A (p.Lys145=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 420719	NM_001079866.2(BCS1L):c.460+11del	BCS1L	Deletion (intron variant)	not specified +4 more	GLikely benign
Select item 516820	NM_001079866.2(BCS1L):c.461-12_461-10del	BCS1L	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1236356	NM_001079866.2(BCS1L):c.461-9_461-7del	BCS1L	Deletion (intron variant)	not provided	GLikely benign
Select item 377558	NM_001079866.2(BCS1L):c.461-9C>T	BCS1L	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 214161	NM_001079866.2(BCS1L):c.499G>A (p.Val167Met)	BCS1L (V167M +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GUncertain significance
Select item 214158	NM_001079866.2(BCS1L):c.504G>A (p.Met168Ile)	BCS1L (M168I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 6174	NM_001079866.2(BCS1L):c.547C>T (p.Arg183Cys)	BCS1L (R183C +2 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex III deficiency nuclear type 1 +2 more	GPathogenic/Likely pathogenic
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 1480327	NM_001079866.2(BCS1L):c.551G>A (p.Arg184His)	BCS1L (R17H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 214167	NM_001079866.2(BCS1L):c.553C>T (p.Arg185Trp)	BCS1L (R185W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 374395	NM_001079866.2(BCS1L):c.598C>T (p.Arg200Ter)	BCS1L (R200* +2 more)	Single nucleotide variant (nonsense +1 more)	Pili torti-deafness syndrome +3 more	GPathogenic/Likely pathogenic
Select item 214159	NM_001079866.2(BCS1L):c.613G>A (p.Val205Ile)	BCS1L (V205I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 214164	NM_001079866.2(BCS1L):c.625_626del (p.Ile209fs)	BCS1L (I209fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
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 1032892	NM_001079866.2(BCS1L):c.642G>A (p.Trp214Ter)	BCS1L (W47* +2 more)	Single nucleotide variant (nonsense +1 more)	Pili torti-deafness syndrome +1 more	GPathogenic/Likely pathogenic
Select item 676249	NM_001079866.2(BCS1L):c.655+63C>T	BCS1L	Single nucleotide variant (intron variant)	GRACILE syndrome +3 more	GBenign
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 265046	NM_001079866.2(BCS1L):c.703G>A (p.Gly235Arg)	BCS1L (G235R +2 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex III deficiency nuclear type 1 +2 more	GConflicting classifications of pathogenicity
Select item 1291331	NM_001079866.2(BCS1L):c.719+22C>T	BCS1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216429	NM_001079866.2(BCS1L):c.720-86_720-85del	BCS1L	Deletion (intron variant)	not provided	GLikely benign
Select item 387667	NM_001079866.2(BCS1L):c.725C>G (p.Ala242Gly)	BCS1L (A242G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 334359	NM_001079866.2(BCS1L):c.768C>G (p.Leu256=)	BCS1L	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex III deficiency nuclear type 1 +3 more	GConflicting classifications of pathogenicity
Select item 1710868	NM_001079866.2(BCS1L):c.770C>T (p.Thr257Met)	BCS1L (T137M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 384871	NM_001079866.2(BCS1L):c.771G>A (p.Thr257=)	BCS1L	Single nucleotide variant (synonymous variant +1 more)	Leigh syndrome +4 more	GConflicting classifications of pathogenicity
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 3252825	NM_001079866.2(BCS1L):c.821C>T (p.Pro274Leu)	BCS1L (P107L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 334360	NM_001079866.2(BCS1L):c.822G>A (p.Pro274=)	BCS1L	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 423549	NM_001079866.2(BCS1L):c.838C>T (p.Leu280Phe)	BCS1L (L280F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 214162	NM_001079866.2(BCS1L):c.871C>T (p.Arg291Ter)	BCS1L (R291* +2 more)	Single nucleotide variant (nonsense +1 more)	Pili torti-deafness syndrome +3 more	GConflicting classifications of pathogenicity
Select item 2501466	NM_001079866.2(BCS1L):c.884T>G (p.Val295Gly)	BCS1L (V128G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1320451	NM_001079866.2(BCS1L):c.925T>C (p.Phe309Leu)	BCS1L (F142L +2 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex III deficiency nuclear type 1 +3 more	GUncertain significance
Select item 214168	NM_001079866.2(BCS1L):c.965C>G (p.Thr322Ser)	BCS1L (T322S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 389473	NM_001079866.2(BCS1L):c.967G>A (p.Glu323Lys)	BCS1L (E323K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 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 383490	NM_001079866.2(BCS1L):c.999C>T (p.His333=)	BCS1L	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 666656	NM_001079866.2(BCS1L):c.1000G>A (p.Val334Ile)	BCS1L (V167I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 136504	NM_001079866.2(BCS1L):c.1007+16G>A	BCS1L	Single nucleotide variant (intron variant)	GRACILE syndrome +4 more	GBenign/Likely benign
Select item 507541	NM_001079866.2(BCS1L):c.1008-5C>A	BCS1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
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
Select item 507890	NM_001079866.2(BCS1L):c.1044C>T (p.Asp348=)	BCS1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 80