C3541471[trait identifier] AND "Counsyl"[submitter] - ClinVar - NCBI

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Items: 14

	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 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 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 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 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 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 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 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 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 370247	NM_001079866.2(BCS1L):c.889+1G>T	BCS1L	Single nucleotide variant (splice donor variant)	GRACILE syndrome +3 more	GPathogenic/Likely pathogenic