C1864002[trait identifier] AND "Counsyl"[submitter] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 334352	NM_001079866.2(BCS1L):c.-53G>T	BCS1L, LOC129935609	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial complex III deficiency nuclear type 1 +2 more	GUncertain significance
Select item 556251	NM_001079866.2(BCS1L):c.-50+1G>A	BCS1L, LOC129935609	Single nucleotide variant (5 prime UTR variant +1 more)	GRACILE syndrome	GUncertain significance
Select item 554713	NM_001079866.2(BCS1L):c.-50+1G>T	BCS1L, LOC129935609	Single nucleotide variant (5 prime UTR variant +1 more)	GRACILE syndrome	GUncertain significance
Select item 556020	NM_001079866.2(BCS1L):c.-50+2T>G	BCS1L, LOC129935609	Single nucleotide variant (5 prime UTR variant +1 more)	GRACILE syndrome	GUncertain significance
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 56411	NM_001079866.2(BCS1L):c.-49-539T>A	BCS1L	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 554718	NM_001079866.2(BCS1L):c.53del (p.Ala18fs)	BCS1L (A18fs)	Deletion (frameshift variant +3 more)	GRACILE syndrome	GLikely pathogenic
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 371015	NM_001079866.2(BCS1L):c.245C>A (p.Ser82Ter)	BCS1L (S82*)	Single nucleotide variant (nonsense +3 more)	Mitochondrial complex III deficiency nuclear type 1 +3 more	GPathogenic/Likely pathogenic
Select item 556141	NM_001079866.2(BCS1L):c.255_257del (p.Gln85del)	BCS1L (Q85del)	Deletion (inframe_deletion +3 more)	not provided +1 more	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 6164	NM_001079866.2(BCS1L):c.296C>T (p.Pro99Leu)	BCS1L (P99L)	Single nucleotide variant (missense variant +3 more)	Pili torti-deafness syndrome +2 more	GPathogenic/Likely pathogenic
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 370387	NM_001079866.2(BCS1L):c.349C>T (p.Arg117Ter)	BCS1L (R117*)	Single nucleotide variant (nonsense +3 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 557160	NM_001079866.2(BCS1L):c.372dup (p.Asp125fs)	BCS1L (D125fs +1 more)	Duplication (frameshift variant +3 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 551829	NM_001079866.2(BCS1L):c.413C>T (p.Thr138Met)	BCS1L (T138M +1 more)	Single nucleotide variant (missense variant +3 more)	GRACILE syndrome +3 more	GConflicting classifications of pathogenicity
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 557129	NM_001079866.2(BCS1L):c.460+1G>A	BCS1L	Single nucleotide variant (splice donor variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 371035	NM_001079866.2(BCS1L):c.460+2T>C	BCS1L	Single nucleotide variant (splice donor variant +1 more)	GRACILE syndrome +1 more	GLikely pathogenic
Select item 558346	NM_001079866.2(BCS1L):c.472del (p.Ala158fs)	BCS1L (A158fs +1 more)	Deletion (frameshift variant +2 more)	GRACILE syndrome	GLikely pathogenic
Select item 558347	NM_001079866.2(BCS1L):c.534del (p.Phe179fs)	BCS1L (F59fs +2 more)	Deletion (frameshift variant +1 more)	GRACILE syndrome	GLikely pathogenic
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 371250	NM_001079866.2(BCS1L):c.556C>T (p.Arg186Ter)	BCS1L (R186* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
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 551244	NM_001079866.2(BCS1L):c.607_615del (p.Arg203_Val205del)	BCS1L	Deletion (inframe_deletion +1 more)	GRACILE syndrome	GUncertain significance
Select item 370128	NM_001079866.2(BCS1L):c.607dup (p.Arg203fs)	BCS1L (R83fs +2 more)	Duplication (frameshift variant +1 more)	Mitochondrial complex III deficiency nuclear type 1 +2 more	GPathogenic/Likely pathogenic
Select item 370831	NM_001079866.2(BCS1L):c.655+1G>A	BCS1L	Single nucleotide variant (splice donor variant)	GRACILE syndrome	GLikely pathogenic
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 554756	NM_001079866.2(BCS1L):c.772del (p.Asp258fs)	BCS1L (D258fs +2 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 555982	NM_001079866.2(BCS1L):c.821del (p.Pro274fs)	BCS1L (P154fs +2 more)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely 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 554238	NM_001079866.2(BCS1L):c.889+2dup	BCS1L	Duplication (splice donor variant)	GRACILE syndrome	GUncertain significance
Select item 550817	NM_001079866.2(BCS1L):c.889+1G>A	BCS1L	Single nucleotide variant (splice donor variant)	GRACILE syndrome	GLikely pathogenic
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 370478	NM_001079866.2(BCS1L):c.973dup (p.Arg325fs)	BCS1L (R325fs +2 more)	Duplication (frameshift variant +1 more)	GRACILE syndrome	GLikely pathogenic
Select item 550864	NM_001079866.2(BCS1L):c.1007+2_1007+5del	BCS1L	Deletion (splice donor variant)	GRACILE syndrome	GLikely pathogenic
Select item 554448	NM_001079866.2(BCS1L):c.1036C>T (p.Arg346Ter)	BCS1L (R346* +2 more)	Single nucleotide variant (nonsense +1 more)	Pili torti-deafness syndrome +1 more	GLikely pathogenic
Select item 551946	NM_001079866.2(BCS1L):c.1048_1050del (p.Lys350del)	BCS1L (K350del +2 more)	Deletion (inframe_deletion +1 more)	GRACILE syndrome	GUncertain significance
Select item 558216	NM_001079866.2(BCS1L):c.1127T>A (p.Leu376Ter)	BCS1L (L376* +2 more)	Single nucleotide variant (nonsense +1 more)	GRACILE syndrome	GLikely pathogenic
Select item 557895	NM_001079866.2(BCS1L):c.1196_1198dup (p.Tyr399dup)	BCS1L	Duplication (inframe_insertion +1 more)	GRACILE syndrome	GUncertain significance
Select item 370811	NM_001079866.2(BCS1L):c.1244_1245del (p.Glu415fs)	BCS1L (E415fs +2 more)	Deletion (frameshift variant +1 more)	GRACILE syndrome	GLikely pathogenic

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Items: 43