ClinVar for MedGen (Select 762097) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065324	NM_001079866.2(BCS1L):c.25G>A (p.Ala9Thr)	BCS1L (A9T)	Single nucleotide variant (missense variant +3 more)	Mitochondrial complex III deficiency nuclear type 1	GPathogenic
Select item 2575314	NM_181705.4(LYRM7):c.245-1G>A	LYRM7	Single nucleotide variant (splice acceptor variant)	Mitochondrial complex III deficiency nuclear type 1	GPathogenic
Select item 1805608	NM_001079866.2(BCS1L):c.170A>G (p.Asp57Gly)	BCS1L (D57G)	Single nucleotide variant (missense variant +3 more)	Mitochondrial complex III deficiency nuclear type 1	GLikely pathogenic
Select item 1726500	NM_001079866.2(BCS1L):c.604_605insC (p.Val202fs)	BCS1L (V202fs +2 more)	Insertion (frameshift variant +1 more)	Pili torti-deafness syndrome +2 more	GLikely pathogenic
Select item 1726226	NM_001079866.2(BCS1L):c.402_403insTT (p.Val135fs)	BCS1L (V135fs +1 more)	Insertion (frameshift variant +3 more)	Pili torti-deafness syndrome +2 more	GLikely pathogenic
Select item 1725291	NM_001079866.2(BCS1L):c.702C>A (p.Cys234Ter)	BCS1L (C114* +2 more)	Single nucleotide variant (nonsense +1 more)	Pili torti-deafness syndrome +2 more	GLikely pathogenic
Select item 1725149	NM_001079866.2(BCS1L):c.476T>A (p.Leu159Ter)	BCS1L (L159* +1 more)	Single nucleotide variant (nonsense +2 more)	Pili torti-deafness syndrome +2 more	GLikely pathogenic
Select item 1724757	NM_001079866.2(BCS1L):c.308_309insTGCGG (p.His104fs)	BCS1L (H104fs)	Insertion (frameshift variant +3 more)	Pili torti-deafness syndrome +2 more	GLikely pathogenic
Select item 1724751	NM_001079866.2(BCS1L):c.798_799insCACCGGCCTCCACC (p.Asn267fs)	BCS1L (N100fs +2 more)	Insertion (frameshift variant +1 more)	Pili torti-deafness syndrome +2 more	GLikely pathogenic
Select item 1724531	NM_001079866.2(BCS1L):c.522_523del (p.Glu175fs)	BCS1L (E175fs +2 more)	Deletion (frameshift variant +1 more)	Pili torti-deafness syndrome +2 more	GLikely pathogenic
Select item 1685568	NM_001079866.2(BCS1L):c.655+1G>C	BCS1L	Single nucleotide variant (splice donor variant)	Mitochondrial complex III deficiency nuclear type 1	GPathogenic
Select item 1457638	NM_001079866.2(BCS1L):c.916C>T (p.Arg306Cys)	BCS1L (R139C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1429458	NM_001079866.2(BCS1L):c.554G>A (p.Arg185Gln)	BCS1L (R185Q +2 more)	Single nucleotide variant (missense variant +1 more)	Pili torti-deafness syndrome +3 more	GUncertain significance
Select item 1422746	NM_001079866.2(BCS1L):c.1157G>A (p.Arg386Gln)	BCS1L (R266Q +2 more)	Single nucleotide variant (missense variant +1 more)	Pili torti-deafness 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)	Mitochondrial complex III deficiency nuclear type 1 +3 more	GUncertain significance
Select item 1341952	NM_001079866.2(BCS1L):c.712A>G (p.Ser238Gly)	BCS1L (S118G +2 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex III deficiency nuclear type 1	GPathogenic
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 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 1210366	NM_001079866.2(BCS1L):c.1220del (p.Pro407fs)	BCS1L (P240fs +2 more)	Deletion (frameshift variant +1 more)	Mitochondrial complex III deficiency nuclear type 1 +2 more	GUncertain significance
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 1071417	NM_001079866.2(BCS1L):c.917G>A (p.Arg306His)	BCS1L (R139H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
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 898620	NM_001079866.2(BCS1L):c.-85G>A	BCS1L, LOC129935609	Single nucleotide variant (5 prime UTR variant +1 more)	Leigh syndrome +3 more	GUncertain significance
Select item 895700	NM_001079866.2(BCS1L):c.566A>G (p.Asn189Ser)	BCS1L (N69S +2 more)	Single nucleotide variant (missense variant +1 more)	GRACILE syndrome +2 more	GUncertain significance
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 794371	NM_001079866.2(BCS1L):c.348A>G (p.Glu116=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not provided +3 more	GLikely benign
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 676249	NM_001079866.2(BCS1L):c.655+63C>T	BCS1L	Single nucleotide variant (intron variant)	GRACILE syndrome +3 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)	Leigh syndrome +4 more	GConflicting classifications of pathogenicity
Select item 646751	NM_001079866.2(BCS1L):c.430C>T (p.Arg144Ter)	BCS1L (R144* +1 more)	Single nucleotide variant (nonsense +3 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 625207	NM_001079866.2(BCS1L):c.268C>T (p.Arg90Cys)	BCS1L (R90C)	Single nucleotide variant (missense variant +3 more)	Intellectual disability +3 more	GPathogenic/Likely 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 554577	NM_001079866.2(BCS1L):c.134G>A (p.Arg45His)	BCS1L (R45H)	Single nucleotide variant (missense variant +3 more)	not provided +3 more	GConflicting classifications of pathogenicity
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 420719	NM_001079866.2(BCS1L):c.460+11del	BCS1L	Deletion (intron variant)	not specified +4 more	GLikely benign
Select item 384871	NM_001079866.2(BCS1L):c.771G>A (p.Thr257=)	BCS1L	Single nucleotide variant (synonymous variant +1 more)	GRACILE syndrome +4 more	GConflicting classifications of pathogenicity
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 381524	NM_001079866.2(BCS1L):c.385G>A (p.Gly129Arg)	BCS1L (G129R +1 more)	Single nucleotide variant (missense variant +3 more)	Mitochondrial complex III deficiency nuclear type 1 +2 more	GPathogenic/Likely pathogenic
Select item 380986	NM_001079866.2(BCS1L):c.171C>T (p.Asp57=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	GRACILE syndrome +4 more	GConflicting classifications of pathogenicity
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 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 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 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 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 350862	NM_014402.5(UQCRQ):c.*1175del	UQCRQ	Deletion (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 1	GLikely benign
Select item 350837	NM_014402.5(UQCRQ):c.-31del	LOC126807509, UQCRQ	Deletion (5 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 1	GUncertain significance
Select item 334360	NM_001079866.2(BCS1L):c.822G>A (p.Pro274=)	BCS1L	Single nucleotide variant (synonymous variant +1 more)	GRACILE syndrome +4 more	GConflicting classifications of pathogenicity
Select item 334359	NM_001079866.2(BCS1L):c.768C>G (p.Leu256=)	BCS1L	Single nucleotide variant (synonymous variant +1 more)	GRACILE syndrome +3 more	GConflicting classifications of pathogenicity
Select item 334358	NM_001079866.2(BCS1L):c.321-12G>A	BCS1L	Single nucleotide variant (intron variant)	GRACILE syndrome +3 more	GConflicting classifications of pathogenicity
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 334356	NM_001079866.2(BCS1L):c.112C>G (p.Leu38Val)	BCS1L (L38V)	Single nucleotide variant (missense variant +3 more)	Leigh syndrome +2 more	GUncertain significance
Select item 334355	NM_001079866.2(BCS1L):c.-14G>A	BCS1L	Single nucleotide variant (5 prime UTR variant +2 more)	GRACILE syndrome +3 more	GConflicting classifications of pathogenicity
Select item 334354	NM_001079866.2(BCS1L):c.-50+458T>G	BCS1L	Single nucleotide variant (5 prime UTR variant +2 more)	Leigh syndrome +2 more	GUncertain significance
Select item 334353	NM_001079866.2(BCS1L):c.-50+425T>C	BCS1L	Single nucleotide variant (5 prime UTR variant +3 more)	GRACILE syndrome +2 more	GUncertain significance
Select item 334352	NM_001079866.2(BCS1L):c.-53G>T	BCS1L, LOC129935609	Single nucleotide variant (5 prime UTR variant +1 more)	GRACILE syndrome +2 more	GUncertain significance
Select item 321985	NM_017775.3(TTC19):c.*1886T>C	NCOR1, TTC19	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 1	GUncertain significance
Select item 321980	NM_017775.4(TTC19):c.*1325delinsAAAAAAAAAA	TTC19	Indel (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 1	GUncertain significance
Select item 321976	NM_017775.4(TTC19):c.1321_1324dup	TTC19	Duplication (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 1	GUncertain significance
Select item 321975	NM_017775.4(TTC19):c.*1324del	TTC19	Deletion (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 1	GUncertain significance
Select item 321974	NM_017775.4(TTC19):c.1317_1324dup	TTC19	Duplication (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 1	GUncertain significance
Select item 321973	NM_017775.4(TTC19):c.1320_1324dup	TTC19	Duplication (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 1	GUncertain significance
Select item 321972	NM_017775.4(TTC19):c.1323_1324dup	TTC19	Duplication (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 1	GUncertain significance
Select item 321971	NM_017775.4(TTC19):c.*1324dup	TTC19	Duplication (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 1	GUncertain significance
Select item 321970	NM_017775.4(TTC19):c.1296_1298dup	TTC19	Duplication (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 1	GUncertain significance
Select item 321969	NM_017775.4(TTC19):c.1236_1237dup	TTC19	Duplication (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 1	GLikely benign
Select item 321959	NM_017775.4(TTC19):c.*670dup	TTC19, LOC130060312	Duplication (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 1	GUncertain significance
Select item 321956	NM_017775.4(TTC19):c.*437del	TTC19	Deletion (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 1	GUncertain significance
Select item 321950	NM_017775.4(TTC19):c.1056_1058del (p.Lys352_Asp353delinsAsn)	TTC19	Deletion (inframe_indel)	Mitochondrial complex III deficiency nuclear type 1	GUncertain significance
Select item 321939	NM_017775.3(TTC19):c.-83C>T	TTC19	Single nucleotide variant	Inborn genetic diseases +1 more	GUncertain significance
Select item 321938	NM_017775.3(TTC19):c.-141G>A	TTC19	Single nucleotide variant	Mitochondrial complex III deficiency nuclear type 1	GUncertain significance
Select item 321937	NM_017775.3(TTC19):c.-178C>T	TTC19, ZSWIM7	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 321936	NM_017775.3(TTC19):c.-190C>T	ZSWIM7, LOC130060310 +1 more	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 1	GUncertain significance
Select item 321935	NM_001042697.2(ZSWIM7):c.74G>A (p.Arg25Gln)	TTC19, ZSWIM7 (R25Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 321934	NM_017775.3(TTC19):c.-444T>C	LOC130060309, TTC19 +1 more	Single nucleotide variant (intron variant)	Mitochondrial complex III deficiency nuclear type 1	GUncertain significance
Select item 321933	NM_017775.3(TTC19):c.-452G>A	LOC130060309, TTC19 +1 more	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 290322	NM_001079866.2(BCS1L):c.201C>T (p.Leu67=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	GRACILE syndrome +3 more	GConflicting classifications of pathogenicity
Select item 281909	NM_017775.3(TTC19):c.-73G>A	TTC19	Single nucleotide variant	not provided +1 more	GUncertain significance
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 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 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 214160	NM_001079866.2(BCS1L):c.205C>T (p.Arg69Cys)	BCS1L (R69C)	Single nucleotide variant (missense variant +3 more)	Pili torti-deafness syndrome +4 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 214156	NM_001079866.2(BCS1L):c.126A>G (p.Ala42=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 214155	NM_001079866.2(BCS1L):c.-43G>A	BCS1L	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 137771	NM_017775.3(TTC19):c.-107A>T	TTC19	Single nucleotide variant	not specified +1 more	GConflicting classifications of pathogenicity
Select item 137770	NM_017775.3(TTC19):c.-169C>G	TTC19, ZSWIM7	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GBenign/Likely benign
Select item 137769	NM_017775.3(TTC19):c.-340G>C	TTC19, ZSWIM7	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 137768	NM_017775.3(TTC19):c.-347C>A	TTC19, ZSWIM7	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely 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 136504	NM_001079866.2(BCS1L):c.1007+16G>A	BCS1L	Single nucleotide variant (intron variant)	GRACILE syndrome +4 more	GBenign/Likely benign
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 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 56412	NM_001079866.2(BCS1L):c.320+1G>T	BCS1L	Single nucleotide variant (splice donor variant +1 more)	GRACILE syndrome +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 6173	NM_001079866.2(BCS1L):c.148A>G (p.Thr50Ala)	BCS1L (T50A)	Single nucleotide variant (missense variant +3 more)	Mitochondrial complex III deficiency nuclear type 1	GPathogenic
Select item 6171	NM_001079866.2(BCS1L):c.550C>T (p.Arg184Cys)	BCS1L (R184C +2 more)	Single nucleotide variant (missense variant +1 more)	GRACILE syndrome +3 more	GPathogenic/Likely pathogenic
Select item 6170	NM_001079866.2(BCS1L):c.548G>A (p.Arg183His)	BCS1L (R183H +2 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex III deficiency nuclear type 1 +4 more	GPathogenic
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 6168	NM_001079866.2(BCS1L):c.133C>T (p.Arg45Cys)	BCS1L (R45C)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 6167	NM_001079866.2(BCS1L):c.232A>G (p.Ser78Gly)	BCS1L (S78G)	Single nucleotide variant (missense variant +3 more)	Mitochondrial complex III deficiency nuclear type 1 +3 more	GPathogenic

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