C1864002[trait identifier] AND "Natera, Inc."[submitter] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 6169	NM_001079866.2(BCS1L):c.166C>T (p.Arg56Ter)	BCS1L (R56*)	Single nucleotide variant (nonsense +3 more)	Pili torti-deafness syndrome +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 290322	NM_001079866.2(BCS1L):c.201C>T (p.Leu67=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	Mitochondrial complex III deficiency nuclear type 1 +3 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	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 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 742568	NM_001079866.2(BCS1L):c.303T>G (p.Pro101=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
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 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 631845	NM_001079866.2(BCS1L):c.399del (p.Glu133fs)	BCS1L (E13fs +1 more)	Deletion (frameshift variant +3 more)	not provided +3 more	GConflicting classifications of pathogenicity
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 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 +4 more	GPathogenic/Likely pathogenic
Select item 754657	NM_001079866.2(BCS1L):c.612C>T (p.Asp204=)	BCS1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 214159	NM_001079866.2(BCS1L):c.613G>A (p.Val205Ile)	BCS1L (V205I +2 more)	Single nucleotide variant (missense variant +1 more)	BCS1L-related disorder +5 more	GConflicting classifications of pathogenicity
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 136502	NM_001079866.2(BCS1L):c.628G>A (p.Asp210Asn)	BCS1L (D210N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GBenign/Likely benign
Select item 334359	NM_001079866.2(BCS1L):c.768C>G (p.Leu256=)	BCS1L	Single nucleotide variant (synonymous variant +1 more)	not provided +3 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 provided +2 more	GConflicting classifications of pathogenicity
Select item 555982	NM_001079866.2(BCS1L):c.821del (p.Pro274fs)	BCS1L (P154fs +2 more)	Deletion (frameshift variant +1 more)	GRACILE syndrome +2 more	GPathogenic/Likely pathogenic
Select item 334360	NM_001079866.2(BCS1L):c.822G>A (p.Pro274=)	BCS1L	Single nucleotide variant (synonymous variant +1 more)	Leigh syndrome +4 more	GConflicting classifications of pathogenicity
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 754991	NM_001079866.2(BCS1L):c.966C>T (p.Thr322=)	BCS1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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)	Leigh syndrome +5 more	GBenign
Select item 666656	NM_001079866.2(BCS1L):c.1000G>A (p.Val334Ile)	BCS1L (V167I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 136505	NM_001079866.2(BCS1L):c.1017T>C (p.Pro339=)	BCS1L	Single nucleotide variant (synonymous variant +1 more)	not specified +5 more	GBenign

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Items: 31