ClinVar for MedGen (Select 400428) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2680155	NM_001079866.2(BCS1L):c.950_953del (p.Asp317fs)	BCS1L (D150fs +2 more)	Deletion (frameshift variant +1 more)	Pili torti-deafness syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2581363	NM_001079866.2(BCS1L):c.1A>T (p.Met1Leu)	BCS1L (M1L)	Single nucleotide variant (missense variant +4 more)	GRACILE syndrome +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 1722398	NM_001079866.2(BCS1L):c.1186del (p.Val396fs)	BCS1L (V229fs +2 more)	Deletion (frameshift variant +1 more)	GRACILE syndrome	GLikely pathogenic
Select item 1698536	NC_000002.11:g.(?_219524378)_(219528167_?)del	BCS1L	Deletion	GRACILE syndrome	GPathogenic
Select item 1683618	NM_001079866.2(BCS1L):c.-50+380G>C	BCS1L	Single nucleotide variant (5 prime UTR variant +2 more)	GRACILE syndrome	GUncertain significance
Select item 1457638	NM_001079866.2(BCS1L):c.916C>T (p.Arg306Cys)	BCS1L (R139C +2 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex III deficiency nuclear type 1 +3 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)	not provided +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)	GRACILE 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)	GRACILE 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)	Pili torti-deafness syndrome +3 more	GUncertain significance
Select item 1320451	NM_001079866.2(BCS1L):c.925T>C (p.Phe309Leu)	BCS1L (F142L +2 more)	Single nucleotide variant (missense variant +1 more)	GRACILE syndrome +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 1259989	NM_001079866.2(BCS1L):c.-50+563G>A	BCS1L	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GBenign
Select item 1252010	NM_001079866.2(BCS1L):c.441C>T (p.Phe147=)	BCS1L	Single nucleotide variant (synonymous variant +2 more)	GRACILE syndrome	GPathogenic
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)	Pili torti-deafness syndrome +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)	GRACILE 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 801896	NM_001079866.2(BCS1L):c.-50+388C>G	BCS1L	Single nucleotide variant (5 prime UTR variant +2 more)	GRACILE syndrome	GLikely pathogenic
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 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 754991	NM_001079866.2(BCS1L):c.966C>T (p.Thr322=)	BCS1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 742568	NM_001079866.2(BCS1L):c.303T>G (p.Pro101=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not provided	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 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 673726	NM_001079866.2(BCS1L):c.-50+541G>A	BCS1L	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	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 666615	NM_001079866.2(BCS1L):c.775T>A (p.Ser259Thr)	BCS1L (S139T +2 more)	Single nucleotide variant (missense variant +1 more)	BCS1L-related condition +2 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)	GRACILE syndrome +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 Disorders +2 more	GConflicting classifications of pathogenicity
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 558346	NM_001079866.2(BCS1L):c.472del (p.Ala158fs)	BCS1L (A158fs +1 more)	Deletion (frameshift variant +2 more)	GRACILE syndrome	GLikely pathogenic
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 557160	NM_001079866.2(BCS1L):c.372dup (p.Asp125fs)	BCS1L (D125fs +1 more)	Duplication (frameshift variant +3 more)	not provided +1 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 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 556141	NM_001079866.2(BCS1L):c.255_257del (p.Gln85del)	BCS1L (Q85del)	Deletion (inframe_deletion +3 more)	GRACILE syndrome +1 more	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 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 554974	NM_001079866.2(BCS1L):c.217C>T (p.Arg73Cys)	BCS1L (R73C)	Single nucleotide variant (missense variant +3 more)	not provided +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)	GRACILE syndrome +1 more	GPathogenic/Likely pathogenic
Select item 554754	NM_001079866.2(BCS1L):c.291_293del (p.Val98del)	BCS1L (V98del)	Deletion (inframe_deletion +3 more)	GRACILE syndrome	GUncertain significance
Select item 554718	NM_001079866.2(BCS1L):c.53del (p.Ala18fs)	BCS1L (A18fs)	Deletion (frameshift variant +3 more)	GRACILE syndrome	GLikely pathogenic
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 554577	NM_001079866.2(BCS1L):c.134G>A (p.Arg45His)	BCS1L (R45H)	Single nucleotide variant (missense variant +3 more)	Pili torti-deafness 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	GLikely pathogenic
Select item 554238	NM_001079866.2(BCS1L):c.889+2dup	BCS1L	Duplication (splice donor variant)	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 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 551829	NM_001079866.2(BCS1L):c.413C>T (p.Thr138Met)	BCS1L (T138M +1 more)	Single nucleotide variant (missense variant +3 more)	not specified +2 more	GUncertain significance
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 550864	NM_001079866.2(BCS1L):c.1007+2_1007+5del	BCS1L	Deletion (splice donor variant)	GRACILE syndrome	GLikely pathogenic
Select item 550817	NM_001079866.2(BCS1L):c.889+1G>A	BCS1L	Single nucleotide variant (splice donor variant)	GRACILE syndrome	GLikely pathogenic
Select item 420719	NM_001079866.2(BCS1L):c.460+11del	BCS1L	Deletion (intron variant)	GRACILE syndrome +4 more	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 384871	NM_001079866.2(BCS1L):c.771G>A (p.Thr257=)	BCS1L	Single nucleotide variant (synonymous variant +1 more)	Leigh syndrome +5 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 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 380986	NM_001079866.2(BCS1L):c.171C>T (p.Asp57=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not specified +5 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)	Mitochondrial complex III deficiency nuclear type 1 +3 more	GPathogenic/Likely pathogenic
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 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 371035	NM_001079866.2(BCS1L):c.460+2T>C	BCS1L	Single nucleotide variant (splice donor variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 371015	NM_001079866.2(BCS1L):c.245C>A (p.Ser82Ter)	BCS1L (S82*)	Single nucleotide variant (nonsense +3 more)	not provided +3 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 370811	NM_001079866.2(BCS1L):c.1244_1245del (p.Glu415fs)	BCS1L (E415fs +2 more)	Deletion (frameshift variant +1 more)	GRACILE syndrome	GLikely 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 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 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)	not provided +1 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 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 334358	NM_001079866.2(BCS1L):c.321-12G>A	BCS1L	Single nucleotide variant (intron variant)	not provided +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)	not specified +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)	Leigh 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)	Mitochondrial complex III deficiency nuclear type 1 +2 more	GUncertain significance
Select item 290322	NM_001079866.2(BCS1L):c.201C>T (p.Leu67=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not provided +3 more	GConflicting classifications of pathogenicity
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 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 214166	NM_001079866.2(BCS1L):c.325C>T (p.Arg109Trp)	BCS1L (R109W)	Single nucleotide variant (missense variant +3 more)	Pili torti-deafness 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)	BCS1L-Related Disorders +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 214160	NM_001079866.2(BCS1L):c.205C>T (p.Arg69Cys)	BCS1L (R69C)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
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 condition +6 more	GConflicting classifications of pathogenicity

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