ClinVar for MedGen (Select 82728) - ClinVar

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Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3240923	NM_001079866.2(BCS1L):c.401_402del (p.Ser134fs)	BCS1L (S134fs +1 more)	Deletion (frameshift variant +3 more)	Pili torti-deafness syndrome	GLikely pathogenic
Select item 3240922	NM_001079866.2(BCS1L):c.464G>A (p.Arg155Gln)	BCS1L (R155Q +1 more)	Single nucleotide variant (missense variant +2 more)	Pili torti-deafness syndrome	GLikely pathogenic
Select item 2680161	NM_001079866.2(BCS1L):c.876del (p.Leu293fs)	BCS1L (L126fs +2 more)	Deletion (frameshift variant +1 more)	Pili torti-deafness syndrome	GLikely pathogenic
Select item 2680160	NM_001079866.2(BCS1L):c.1070C>A (p.Ser357Ter)	BCS1L (S190* +2 more)	Single nucleotide variant (nonsense +1 more)	Pili torti-deafness syndrome	GLikely pathogenic
Select item 2680159	NM_001079866.2(BCS1L):c.1156C>T (p.Arg386Ter)	BCS1L (R219* +2 more)	Single nucleotide variant (nonsense +1 more)	Pili torti-deafness syndrome	GLikely pathogenic
Select item 2680158	NM_001079866.2(BCS1L):c.897_898insCC (p.Lys300fs)	BCS1L (K133fs +2 more)	Insertion (frameshift variant +1 more)	Pili torti-deafness syndrome	GLikely pathogenic
Select item 2680157	NM_001079866.2(BCS1L):c.268dup (p.Arg90fs)	BCS1L (R90fs)	Duplication (frameshift variant +3 more)	Pili torti-deafness syndrome	GLikely pathogenic
Select item 2680156	NM_001079866.2(BCS1L):c.492del (p.Lys165fs)	BCS1L (K165fs +1 more)	Deletion (frameshift variant +2 more)	Pili torti-deafness syndrome	GLikely pathogenic
Select item 2680155	NM_001079866.2(BCS1L):c.950_953del (p.Asp317fs)	BCS1L (D150fs +2 more)	Deletion (frameshift variant +1 more)	GRACILE syndrome +2 more	GPathogenic/Likely pathogenic
Select item 2680154	NM_001079866.2(BCS1L):c.793_796del (p.Arg265fs)	BCS1L (R145fs +2 more)	Deletion (frameshift variant +1 more)	Pili torti-deafness syndrome	GLikely pathogenic
Select item 2680153	NM_001079866.2(BCS1L):c.1026dup (p.Arg343fs)	BCS1L (R176fs +2 more)	Duplication (frameshift variant +1 more)	Pili torti-deafness syndrome	GLikely pathogenic
Select item 2680152	NM_001079866.2(BCS1L):c.734_735delinsC (p.Gly245fs)	BCS1L (G125fs +2 more)	Indel (frameshift variant +1 more)	Pili torti-deafness syndrome	GLikely pathogenic
Select item 2680151	NM_001079866.2(BCS1L):c.397G>T (p.Glu133Ter)	BCS1L (E13* +1 more)	Single nucleotide variant (nonsense +3 more)	Pili torti-deafness syndrome	GLikely pathogenic
Select item 2680150	NM_001079866.2(BCS1L):c.580C>T (p.Gln194Ter)	BCS1L (Q194* +2 more)	Single nucleotide variant (nonsense +1 more)	Pili torti-deafness syndrome	GLikely pathogenic
Select item 2680149	NM_001079866.2(BCS1L):c.671_675del (p.Arg224fs)	BCS1L (R104fs +2 more)	Deletion (frameshift variant +1 more)	Pili torti-deafness syndrome	GLikely pathogenic
Select item 2680148	NM_001079866.2(BCS1L):c.1076G>A (p.Trp359Ter)	BCS1L (W192* +2 more)	Single nucleotide variant (nonsense +1 more)	Pili torti-deafness syndrome	GLikely pathogenic
Select item 2680147	NM_001079866.2(BCS1L):c.-50+326A>G	BCS1L	Single nucleotide variant (5 prime UTR variant +2 more)	Pili torti-deafness syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2680146	NM_001079866.2(BCS1L):c.993_999del (p.Asn332fs)	BCS1L (N165fs +2 more)	Deletion (frameshift variant +1 more)	Pili torti-deafness syndrome	GLikely pathogenic
Select item 2444450	NM_001079866.2(BCS1L):c.321-2A>G	BCS1L	Single nucleotide variant (splice acceptor variant +1 more)	Pili torti-deafness syndrome +1 more	GLikely pathogenic
Select item 2184969	NM_001079866.2(BCS1L):c.793C>T (p.Arg265Ter)	BCS1L (R265* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely 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 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 1455942	NM_001079866.2(BCS1L):c.340C>T (p.Arg114Trp)	BCS1L (R114W)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1452038	NM_001079866.2(BCS1L):c.478C>T (p.Gln160Ter)	BCS1L (Q40* +1 more)	Single nucleotide variant (nonsense +2 more)	GRACILE syndrome +2 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)	Mitochondrial complex III deficiency nuclear type 1 +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)	Mitochondrial complex III deficiency nuclear type 1 +3 more	GUncertain significance
Select item 1414470	NM_001079866.2(BCS1L):c.493A>T (p.Lys165Ter)	BCS1L (K165* +1 more)	Single nucleotide variant (nonsense +2 more)	Pili torti-deafness syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1369594	NM_001079866.2(BCS1L):c.585G>C (p.Gln195His)	BCS1L (Q75H +2 more)	Single nucleotide variant (missense variant +1 more)	GRACILE syndrome +3 more	GUncertain significance
Select item 1350830	NM_001079866.2(BCS1L):c.903C>A (p.Tyr301Ter)	BCS1L (Y181* +2 more)	Single nucleotide variant (nonsense +1 more)	Pili torti-deafness syndrome +1 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 1302936	NM_001079866.2(BCS1L):c.206G>A (p.Arg69His)	BCS1L (R69H)	Single nucleotide variant (missense variant +3 more)	not provided +3 more	GUncertain significance
Select item 1210366	NM_001079866.2(BCS1L):c.1220del (p.Pro407fs)	BCS1L (P240fs +2 more)	Deletion (frameshift variant +1 more)	Pili torti-deafness syndrome +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)	Pili torti-deafness syndrome +3 more	GUncertain significance
Select item 1073784	NM_001079866.2(BCS1L):c.463C>T (p.Arg155Ter)	BCS1L (R155* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1072216	NM_001079866.2(BCS1L):c.336G>A (p.Trp112Ter)	BCS1L (W112*)	Single nucleotide variant (nonsense +3 more)	Pili torti-deafness syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1071417	NM_001079866.2(BCS1L):c.917G>A (p.Arg306His)	BCS1L (R139H +2 more)	Single nucleotide variant (missense variant +1 more)	Pili torti-deafness syndrome +3 more	GPathogenic/Likely pathogenic
Select item 1032892	NM_001079866.2(BCS1L):c.642G>A (p.Trp214Ter)	BCS1L (W47* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1028218	NM_001079866.2(BCS1L):c.696del (p.Gly233fs)	BCS1L (G113fs +2 more)	Deletion (frameshift variant +1 more)	Mitochondrial complex III deficiency nuclear type 1 +4 more	GPathogenic/Likely pathogenic
Select item 969333	NM_001079866.2(BCS1L):c.280_281del (p.Lys94fs)	BCS1L (K94fs)	Deletion (frameshift variant +3 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 967029	NM_001079866.2(BCS1L):c.528G>A (p.Trp176Ter)	BCS1L (W176* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 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)	Pili torti-deafness syndrome +3 more	GUncertain significance
Select item 863524	NM_001079866.2(BCS1L):c.355C>T (p.Arg119Ter)	BCS1L (R119*)	Single nucleotide variant (nonsense +3 more)	Mitochondrial complex III deficiency nuclear type 1 +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)	Mitochondrial complex III deficiency nuclear type 1 +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 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 631845	NM_001079866.2(BCS1L):c.399del (p.Glu133fs)	BCS1L (E13fs +1 more)	Deletion (frameshift variant +3 more)	BCS1L-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 625208	NM_001079866.2(BCS1L):c.518G>A (p.Gly173Asp)	BCS1L (G173D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 625207	NM_001079866.2(BCS1L):c.268C>T (p.Arg90Cys)	BCS1L (R90C)	Single nucleotide variant (missense variant +3 more)	Mitochondrial complex III deficiency nuclear type 1 +3 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 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 554577	NM_001079866.2(BCS1L):c.134G>A (p.Arg45His)	BCS1L (R45H)	Single nucleotide variant (missense variant +3 more)	GRACILE syndrome +3 more	GConflicting classifications of pathogenicity
Select item 554448	NM_001079866.2(BCS1L):c.1036C>T (p.Arg346Ter)	BCS1L (R346* +2 more)	Single nucleotide variant (nonsense +1 more)	GRACILE syndrome +1 more	GLikely 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 420719	NM_001079866.2(BCS1L):c.460+11del	BCS1L	Deletion (intron variant)	not specified +4 more	GLikely benign
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 377559	NM_001079866.2(BCS1L):c.702C>T (p.Cys234=)	BCS1L	Single nucleotide variant (synonymous variant +1 more)	not provided +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 371250	NM_001079866.2(BCS1L):c.556C>T (p.Arg186Ter)	BCS1L (R186* +2 more)	Single nucleotide variant (nonsense +1 more)	GRACILE syndrome +2 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 370387	NM_001079866.2(BCS1L):c.349C>T (p.Arg117Ter)	BCS1L (R117*)	Single nucleotide variant (nonsense +3 more)	GRACILE syndrome +2 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 214166	NM_001079866.2(BCS1L):c.325C>T (p.Arg109Trp)	BCS1L (R109W)	Single nucleotide variant (missense variant +3 more)	GRACILE syndrome +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)	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)	Inborn genetic diseases +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)	GRACILE syndrome +4 more	GPathogenic/Likely pathogenic
Select item 136505	NM_001079866.2(BCS1L):c.1017T>C (p.Pro339=)	BCS1L	Single nucleotide variant (synonymous variant +1 more)	Pili torti-deafness syndrome +5 more	GBenign
Select item 136504	NM_001079866.2(BCS1L):c.1007+16G>A	BCS1L	Single nucleotide variant (intron variant)	not specified +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)	not provided +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)	GRACILE syndrome +5 more	GBenign/Likely benign
Select item 126497	NM_001079866.2(BCS1L):c.901T>A (p.Tyr301Asn)	BCS1L (Y301N +2 more)	Single nucleotide variant (missense variant +1 more)	Pili torti-deafness syndrome	GPathogenic
Select item 56412	NM_001079866.2(BCS1L):c.320+1G>T	BCS1L	Single nucleotide variant (splice donor variant +1 more)	not provided +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)	Pili torti-deafness syndrome +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)	not provided +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)	not provided +4 more	GPathogenic
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 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)	not provided +3 more	GPathogenic
Select item 6166	NM_001079866.2(BCS1L):c.1057G>A (p.Val353Met)	BCS1L (V353M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 6164	NM_001079866.2(BCS1L):c.296C>T (p.Pro99Leu)	BCS1L (P99L)	Single nucleotide variant (missense variant +3 more)	not provided +2 more	GPathogenic/Likely pathogenic

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Items: 86