ClinVar for Gene (Select 617) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3252825	NM_001079866.2(BCS1L):c.821C>T (p.Pro274Leu)	BCS1L (P107L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3247521	NC_000002.11:g.(?_219527335)_(219528514_?)del	BCS1L	Deletion	not provided	GPathogenic
Select item 3247520	NC_000002.11:g.(?_219524871)_(219679753_?)del	BCS1L, CYP27A1 +3 more	Deletion	not provided	GPathogenic
Select item 3247519	NC_000002.11:g.(?_219521986)_(219527996_?)del	BCS1L, ZNF142	Deletion	not provided	GPathogenic
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 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
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 3014881	NM_001079866.2(BCS1L):c.753C>T (p.Ile251=)	BCS1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3014817	NM_001079866.2(BCS1L):c.690G>A (p.Gly230=)	BCS1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3010799	NM_001079866.2(BCS1L):c.321-13C>T	BCS1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009200	NM_001079866.2(BCS1L):c.890-10C>T	BCS1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005126	NM_001079866.2(BCS1L):c.1007+14A>G	BCS1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003303	NM_001079866.2(BCS1L):c.174G>A (p.Arg58=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2993881	NM_001079866.2(BCS1L):c.1113G>A (p.Gly371=)	BCS1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2990328	NM_001079866.2(BCS1L):c.1236C>T (p.His412=)	BCS1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2987774	NM_001079866.2(BCS1L):c.234T>C (p.Ser78=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2987773	NM_001079866.2(BCS1L):c.172A>C (p.Arg58=)	BCS1L	Single nucleotide variant (intron variant +3 more)	not provided	GLikely benign
Select item 2987056	NM_001079866.2(BCS1L):c.890-4C>T	BCS1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982663	NM_001079866.2(BCS1L):c.846G>A (p.Glu282=)	BCS1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2970902	NM_001079866.2(BCS1L):c.75G>C (p.Val25=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2970662	NM_001079866.2(BCS1L):c.890-19T>C	BCS1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966477	NM_001079866.2(BCS1L):c.320+10G>A	BCS1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966315	NM_001079866.2(BCS1L):c.741G>A (p.Leu247=)	BCS1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2964399	NM_001079866.2(BCS1L):c.1007+17C>T	BCS1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963015	NM_001079866.2(BCS1L):c.816G>A (p.Val272=)	BCS1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2958254	NM_001079866.2(BCS1L):c.1008-13del	BCS1L	Deletion (intron variant)	not provided	GLikely benign
Select item 2918266	NM_001079866.2(BCS1L):c.889+11G>A	BCS1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2916249	NM_001079866.2(BCS1L):c.460+38C>G	BCS1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2915301	NM_001079866.2(BCS1L):c.719+17TC[2]	BCS1L	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2912720	NM_001079866.2(BCS1L):c.655+15G>T	BCS1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2898626	NM_001079866.2(BCS1L):c.889+17G>A	BCS1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2897471	NM_001079866.2(BCS1L):c.105T>C (p.Gly35=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2894129	NM_001079866.2(BCS1L):c.460+34A>G	BCS1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2885818	NM_001079866.2(BCS1L):c.246G>A (p.Ser82=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2883856	NM_001079866.2(BCS1L):c.890-5T>A	BCS1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2882688	NM_001079866.2(BCS1L):c.656-11T>C	BCS1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879659	NM_001079866.2(BCS1L):c.378G>A (p.Leu126=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2872889	NM_001079866.2(BCS1L):c.699T>G (p.Gly233=)	BCS1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2868705	NM_001079866.2(BCS1L):c.908G>A (p.Gly303Asp)	BCS1L (G183D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2867788	NM_001079866.2(BCS1L):c.889+9G>A	BCS1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2867629	NM_001079866.2(BCS1L):c.321-16G>C	BCS1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2856437	NM_001079866.2(BCS1L):c.549C>G (p.Arg183=)	BCS1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2855702	NM_001079866.2(BCS1L):c.555G>A (p.Arg185=)	BCS1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2850145	NM_001079866.2(BCS1L):c.966C>G (p.Thr322=)	BCS1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2846358	NM_001079866.2(BCS1L):c.420G>A (p.Leu140=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2843136	NM_001079866.2(BCS1L):c.387G>T (p.Gly129=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2840918	NM_001079866.2(BCS1L):c.461-3del	BCS1L	Deletion (intron variant)	not provided	GLikely benign
Select item 2834724	NM_001079866.2(BCS1L):c.636C>T (p.Pro212=)	BCS1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2827063	NM_001079866.2(BCS1L):c.318C>T (p.Ile106=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2822999	NM_001079866.2(BCS1L):c.460+33C>T	BCS1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2811799	NM_001079866.2(BCS1L):c.777C>T (p.Ser259=)	BCS1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2811287	NM_001079866.2(BCS1L):c.460+7G>A	BCS1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2808467	NM_001079866.2(BCS1L):c.1224A>G (p.Val408=)	BCS1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2807733	NM_001079866.2(BCS1L):c.461-10T>C	BCS1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2802870	NM_001079866.2(BCS1L):c.321-10del	BCS1L	Deletion (intron variant)	not provided	GLikely benign
Select item 2799072	NM_001079866.2(BCS1L):c.656-17C>T	BCS1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2797320	NM_001079866.2(BCS1L):c.890-8T>C	BCS1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2791675	NM_001079866.2(BCS1L):c.461-17C>T	BCS1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2783255	NM_001079866.2(BCS1L):c.102G>A (p.Lys34=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2779564	NM_001079866.2(BCS1L):c.475T>C (p.Leu159=)	BCS1L	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2778441	NM_001079866.2(BCS1L):c.461-15T>C	BCS1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2773214	NM_001079866.2(BCS1L):c.386G>A (p.Gly129Glu)	BCS1L (G129E +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GLikely pathogenic
Select item 2771187	NM_001079866.2(BCS1L):c.460+9T>C	BCS1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2768383	NM_001079866.2(BCS1L):c.456G>A (p.Glu152=)	BCS1L	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2767141	NM_001079866.2(BCS1L):c.774C>T (p.Asp258=)	BCS1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2763612	NM_001079866.2(BCS1L):c.279T>C (p.Thr93=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2763437	NM_001079866.2(BCS1L):c.411C>T (p.Phe137=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2762303	NM_001079866.2(BCS1L):c.930T>C (p.Ser310=)	BCS1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2761342	NM_001079866.2(BCS1L):c.189G>A (p.Leu63=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2761088	NM_001079866.2(BCS1L):c.719+1G>T	BCS1L	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2757999	NM_001079866.2(BCS1L):c.1143A>C (p.Ala381=)	BCS1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2757980	NM_001079866.2(BCS1L):c.1176T>C (p.Ser392=)	BCS1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2755387	NM_001079866.2(BCS1L):c.132G>C (p.Arg44=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2752907	NM_001079866.2(BCS1L):c.360G>A (p.Glu120=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2746390	NM_001079866.2(BCS1L):c.783C>T (p.Leu261=)	BCS1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2745494	NM_001079866.2(BCS1L):c.1047G>T (p.Leu349=)	BCS1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2744289	NM_001079866.2(BCS1L):c.108C>G (p.Val36=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2743433	NM_001079866.2(BCS1L):c.890-16C>T	BCS1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2742979	NM_001079866.2(BCS1L):c.648T>A (p.Thr216=)	BCS1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2742932	NM_001079866.2(BCS1L):c.655+17G>C	BCS1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2732806	NM_001079866.2(BCS1L):c.460+16G>A	BCS1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2729616	NM_001079866.2(BCS1L):c.1007+9G>A	BCS1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2728494	NM_001079866.2(BCS1L):c.67dup (p.Val23fs)	BCS1L (V23fs)	Duplication (frameshift variant +3 more)	not provided	GPathogenic
Select item 2727120	NM_001079866.2(BCS1L):c.889+12G>A	BCS1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2727087	NM_001079866.2(BCS1L):c.321-15A>G	BCS1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2714311	NM_001079866.2(BCS1L):c.720-8C>T	BCS1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2711451	NM_001079866.2(BCS1L):c.1036C>A (p.Arg346=)	BCS1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2710671	NM_001079866.2(BCS1L):c.826C>T (p.Gln276Ter)	BCS1L (Q276* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2709655	NM_001079866.2(BCS1L):c.434dup (p.Val146fs)	BCS1L (V146fs +1 more)	Duplication (frameshift variant +3 more)	not provided	GPathogenic
Select item 2709376	NM_001079866.2(BCS1L):c.719+16T>G	BCS1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2704525	NM_001079866.2(BCS1L):c.78C>T (p.Gly26=)	BCS1L	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 2701060	NM_001079866.2(BCS1L):c.575T>C (p.Val192Ala)	BCS1L (V72A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2700687	NM_001079866.2(BCS1L):c.726C>T (p.Ala242=)	BCS1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2698455	NM_001079866.2(BCS1L):c.28C>T (p.Leu10=)	BCS1L	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2697713	NM_001079866.2(BCS1L):c.460+31G>A	BCS1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2693342	NM_001079866.2(BCS1L):c.460+52T>C	BCS1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2692639	NM_001079866.2(BCS1L):c.133C>G (p.Arg45Gly)	BCS1L (R45G)	Single nucleotide variant (missense variant +3 more)	not provided	GLikely pathogenic
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
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

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