"Counsyl"[submitter] AND "NEB"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 552112	NM_001164508.2(NEB):c.25544del (p.Gly8515fs)	NEB, RIF1 (G8515fs +2 more)	Deletion (frameshift variant)	Nemaline myopathy 2	GUncertain significance
Select item 552113	NM_001164508.2(NEB):c.25543G>T (p.Gly8515Ter)	NEB, RIF1 (G8550* +2 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2	GUncertain significance
Select item 552076	NM_001164508.2(NEB):c.25534_25535insTATGCACTGTGCAGAGGACTG (p.Thr8511_Gly8512insValCysThrValGlnArgThr)	NEB, RIF1	Insertion (inframe_insertion)	Nemaline myopathy 2	GUncertain significance
Select item 552114	NM_001164508.2(NEB):c.25508G>A (p.Trp8503Ter)	NEB, RIF1 (W8538* +2 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2	GUncertain significance
Select item 553603	NM_001164508.2(NEB):c.25501G>T (p.Glu8501Ter)	NEB, RIF1 (E8536* +2 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2	GUncertain significance
Select item 550066	NM_001164508.2(NEB):c.25429_25430insG (p.Tyr8477Ter)	NEB, RIF1 (Y6621* +2 more)	Insertion (nonsense)	Nemaline myopathy 2	GUncertain significance
Select item 552075	NM_001164508.2(NEB):c.25405-1G>C	NEB, RIF1	Single nucleotide variant (splice acceptor variant)	Nemaline myopathy 2	GUncertain significance
Select item 552180	NM_001164508.2(NEB):c.25404+1_25404+2insATGGA	NEB, RIF1	Insertion (splice donor variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 552048	NM_001164508.2(NEB):c.25404+2T>A	NEB, RIF1	Single nucleotide variant (splice donor variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 550094	NM_001164508.2(NEB):c.25345_25347del (p.Ser8449del)	NEB, RIF1 (S8484del +2 more)	Deletion (inframe_deletion)	Nemaline myopathy 2	GUncertain significance
Select item 552074	NM_001164508.2(NEB):c.25340C>A (p.Ser8447Ter)	NEB, RIF1 (S8482* +2 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2	GLikely pathogenic
Select item 449500	NM_001164508.2(NEB):c.25336C>T (p.Arg8446Ter)	NEB, RIF1 (R8481* +2 more)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6 +3 more	GPathogenic
Select item 551219	NM_001164508.2(NEB):c.25297+2del	NEB, RIF1	Deletion (splice donor variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 552340	NM_001164508.2(NEB):c.25297+1G>A	NEB, RIF1	Single nucleotide variant (splice donor variant)	Arthrogryposis multiplex congenita 6 +2 more	GLikely pathogenic
Select item 465589	NM_001164508.2(NEB):c.25214del (p.Gly8405fs)	NEB, RIF1 (G8440fs +2 more)	Deletion (frameshift variant)	Nemaline myopathy 2 +1 more	GConflicting classifications of pathogenicity
Select item 554049	NM_001164508.2(NEB):c.25182_25187del (p.Arg8395_Ser8396del)	NEB, RIF1	Deletion (inframe_deletion)	Nemaline myopathy 2	GUncertain significance
Select item 558523	NM_001164508.2(NEB):c.25151-1G>T	NEB, RIF1	Single nucleotide variant (splice acceptor variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 553199	NM_001164508.2(NEB):c.25058-2A>C	NEB, RIF1	Single nucleotide variant (splice acceptor variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 551995	NM_001164508.2(NEB):c.25057+1G>A	NEB, RIF1	Single nucleotide variant (splice donor variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 550116	NM_001164508.2(NEB):c.25057+1G>C	NEB, RIF1	Single nucleotide variant (splice donor variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 553810	NM_001164508.2(NEB):c.25012delinsTA (p.Glu8338Ter)	NEB, RIF1 (E6482* +2 more)	Indel (nonsense)	Nemaline myopathy 2	GLikely pathogenic
Select item 552073	NM_001164508.2(NEB):c.24954GAA[1] (p.Lys8319del)	NEB, RIF1 (K8354del +2 more)	Microsatellite (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 556871	NM_001164508.2(NEB):c.24883_24885del (p.His8295del)	NEB, RIF1 (H8330del +2 more)	Deletion (inframe_deletion)	Nemaline myopathy 2	GUncertain significance
Select item 557882	NM_001164508.2(NEB):c.24766-9_24767del	NEB, RIF1	Deletion (splice acceptor variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 552874	NM_001164508.2(NEB):c.24735_24736del (p.Arg8245fs)	NEB, RIF1 (R6389fs +2 more)	Microsatellite (frameshift variant)	Nemaline myopathy +3 more	GPathogenic/Likely pathogenic
Select item 551371	NM_001164508.2(NEB):c.24673-2A>C	NEB, RIF1	Single nucleotide variant (splice acceptor variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 279999	NM_001164508.2(NEB):c.24666del (p.Phe8222fs)	NEB, RIF1 (F6366fs +2 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 194452	NM_001164508.2(NEB):c.24665_24666del (p.Asn8221_Phe8222insTer)	NEB, RIF1	Deletion (nonsense)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 554958	NM_001164508.2(NEB):c.24639_24640del (p.Arg8214fs)	NEB, RIF1 (R6358fs +2 more)	Deletion (frameshift variant)	Nemaline myopathy 2 +1 more	GPathogenic/Likely pathogenic
Select item 554956	NM_001164508.2(NEB):c.24637G>T (p.Glu8213Ter)	NEB, RIF1 (E8248* +2 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2	GLikely pathogenic
Select item 432817	NM_001164508.2(NEB):c.24588C>G (p.Tyr8196Ter)	NEB, RIF1 (Y8231* +2 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2 +2 more	GPathogenic
Select item 555932	NM_001164508.2(NEB):c.24580-2A>G	NEB, RIF1	Single nucleotide variant (splice acceptor variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 557774	NM_001164508.2(NEB):c.24554_24555dup (p.Arg8186fs)	NEB, RIF1 (R6330fs +2 more)	Duplication (frameshift variant)	Nemaline myopathy 2 +1 more	GPathogenic/Likely pathogenic
Select item 552108	NM_001164508.2(NEB):c.24549_24550del (p.Arg8183fs)	RIF1, NEB (R6327fs +2 more)	Microsatellite (frameshift variant)	Arthrogryposis multiplex congenita 6 +2 more	GPathogenic/Likely pathogenic
Select item 265493	NM_001164508.2(NEB):c.24527_24528del (p.Pro8176fs)	NEB, RIF1 (P6320fs +2 more)	Deletion (frameshift variant)	Abnormality of the neck +6 more	GPathogenic
Select item 95121	NM_001164508.2(NEB):c.24509G>A (p.Gly8170Glu)	NEB, RIF1 (G6314E +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 556361	NM_001164508.2(NEB):c.24472_24474del (p.Glu8158del)	NEB, RIF1 (E8193del +2 more)	Deletion (inframe_deletion)	Nemaline myopathy 2	GUncertain significance
Select item 496135	NM_001164508.2(NEB):c.24454C>T (p.Arg8152Ter)	NEB, RIF1 (R8187* +2 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2 +3 more	GPathogenic/Likely pathogenic
Select item 557406	NM_001164508.2(NEB):c.24394-1G>A	NEB, RIF1	Single nucleotide variant (splice acceptor variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 465581	NM_001164508.2(NEB):c.24393+1G>A	NEB, RIF1	Single nucleotide variant (intron variant +1 more)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 552106	NM_001164508.2(NEB):c.24386_24388dup (p.Ile8129dup)	NEB, RIF1	Duplication (inframe_insertion +1 more)	Nemaline myopathy 2	GUncertain significance
Select item 552683	NM_001164508.2(NEB):c.24377_24383del (p.Gln8126fs)	NEB, RIF1 (Q8126fs +1 more)	Deletion (frameshift variant +1 more)	Nemaline myopathy 2	GLikely pathogenic
Select item 552471	NM_001164508.2(NEB):c.24375_24377dup (p.Asn8125_Gln8126insHis)	NEB, RIF1	Duplication (inframe_insertion +1 more)	Nemaline myopathy 2	GUncertain significance
Select item 551551	NM_001164508.2(NEB):c.24368_24371dup (p.His8124fs)	RIF1, NEB (H8124fs +1 more)	Duplication (frameshift variant +1 more)	Arthrogryposis multiplex congenita 6 +1 more	GPathogenic/Likely pathogenic
Select item 558081	NM_001164508.2(NEB):c.24363_24364del (p.Arg8121fs)	NEB, RIF1 (R8121fs +1 more)	Microsatellite (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 551772	NM_001164508.2(NEB):c.24355_24357dup (p.Met8119dup)	NEB, RIF1	Duplication (inframe_insertion +1 more)	Nemaline myopathy 2 +1 more	GUncertain significance
Select item 551882	NM_001164508.2(NEB):c.24353_24356dup (p.Met8119fs)	NEB, RIF1 (M8119fs +1 more)	Duplication (frameshift variant +1 more)	Arthrogryposis multiplex congenita 6 +2 more	GPathogenic/Likely pathogenic
Select item 533968	NM_001164508.2(NEB):c.24339_24342del (p.Pro8114fs)	RIF1, NEB (P8114fs +1 more)	Deletion (frameshift variant +1 more)	Arthrogryposis multiplex congenita 6 +2 more	GPathogenic/Likely pathogenic
Select item 552107	NM_001164508.2(NEB):c.24309C>A (p.Tyr8103Ter)	NEB, RIF1 (Y8138* +1 more)	Single nucleotide variant (nonsense +1 more)	Nemaline myopathy 2	GLikely pathogenic
Select item 557837	NM_001164508.2(NEB):c.24301_24305dup (p.Tyr8103fs)	NEB, RIF1 (Y8103fs +1 more)	Duplication (frameshift variant +1 more)	Nemaline myopathy 2	GLikely pathogenic
Select item 550279	NM_001164508.2(NEB):c.24303_24305dup (p.Leu8102dup)	NEB, RIF1	Duplication (inframe_insertion +1 more)	Nemaline myopathy 2	GUncertain significance
Select item 554684	NM_001164508.2(NEB):c.24305T>A (p.Leu8102Ter)	NEB, RIF1 (L8137* +1 more)	Single nucleotide variant (nonsense +1 more)	Nemaline myopathy 2	GLikely pathogenic
Select item 551812	NM_001164508.2(NEB):c.24300+1G>A	NEB, RIF1	Single nucleotide variant (intron variant +1 more)	Arthrogryposis multiplex congenita 6 +2 more	GPathogenic/Likely pathogenic
Select item 551475	NM_001164508.2(NEB):c.24293_24295dup (p.Ile8098dup)	NEB, RIF1	Duplication (inframe_insertion +1 more)	not provided +1 more	GUncertain significance
Select item 554396	NM_001164508.2(NEB):c.24277_24280dup (p.Asn8094fs)	NEB, RIF1 (N8129fs +1 more)	Microsatellite (frameshift variant +1 more)	Nemaline myopathy 2	GLikely pathogenic
Select item 558158	NM_001164508.2(NEB):c.24275_24278dup (p.His8093fs)	NEB, RIF1 (H8093fs +1 more)	Duplication (frameshift variant +1 more)	Nemaline myopathy 2 +1 more	GPathogenic/Likely pathogenic
Select item 558069	NM_001164508.2(NEB):c.24267_24270dup (p.Val8091fs)	NEB, RIF1 (V8126fs +1 more)	Duplication (frameshift variant +1 more)	Nemaline myopathy +1 more	GPathogenic
Select item 552268	NM_001164508.2(NEB):c.24267_24270del (p.Arg8090fs)	NEB, RIF1 (R8090fs +1 more)	Deletion (frameshift variant +1 more)	Nemaline myopathy 2 +1 more	GPathogenic
Select item 552784	NM_001164508.2(NEB):c.24262_24264dup (p.Met8088dup)	NEB, RIF1	Duplication (inframe_insertion +1 more)	Nemaline myopathy 2	GUncertain significance
Select item 553511	NM_001164508.2(NEB):c.24220G>T (p.Glu8074Ter)	NEB, RIF1 (E8109* +1 more)	Single nucleotide variant (nonsense +1 more)	Arthrogryposis multiplex congenita 6 +1 more	GPathogenic/Likely pathogenic
Select item 553170	NM_001164508.2(NEB):c.24208_24212dup (p.Tyr8072fs)	NEB, RIF1 (Y8107fs +1 more)	Duplication (frameshift variant +1 more)	Arthrogryposis multiplex congenita 6 +1 more	GPathogenic/Likely pathogenic
Select item 550809	NM_001164508.2(NEB):c.24210_24212dup (p.Leu8071dup)	NEB, RIF1	Duplication (inframe_insertion +1 more)	not provided +1 more	GUncertain significance
Select item 550672	NM_001164508.2(NEB):c.24211_24212dup (p.Leu8071fs)	NEB, RIF1 (L8071fs +1 more)	Duplication (frameshift variant +1 more)	Arthrogryposis multiplex congenita 6 +1 more	GPathogenic/Likely pathogenic
Select item 465579	NM_001164508.2(NEB):c.24209_24212dup (p.Leu8071fs)	NEB, RIF1 (L8106fs +1 more)	Duplication (frameshift variant +1 more)	Arthrogryposis multiplex congenita 6 +3 more	GPathogenic/Likely pathogenic
Select item 551889	NM_001164508.2(NEB):c.24212T>A (p.Leu8071Ter)	NEB, RIF1 (L8106* +1 more)	Single nucleotide variant (nonsense +1 more)	Arthrogryposis multiplex congenita 6 +1 more	GPathogenic/Likely pathogenic
Select item 558493	NM_004543.5(NEB):c.18826-1350_18826-1348dup	NEB, RIF1	Duplication (intron variant)	Nemaline myopathy 2	GUncertain significance
Select item 557898	NM_001164508.2(NEB):c.24207+2T>C	NEB, RIF1	Single nucleotide variant (intron variant +1 more)	Nemaline myopathy 2	GLikely pathogenic
Select item 558507	NM_001164508.2(NEB):c.24207G>A (p.Ser8069=)	NEB, RIF1	Single nucleotide variant (synonymous variant +1 more)	Nemaline myopathy 2	GConflicting classifications of pathogenicity
Select item 550775	NM_001164508.2(NEB):c.24177_24178del (p.Arg8059fs)	NEB, RIF1 (R8094fs +1 more)	Microsatellite (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 554324	NM_001164508.2(NEB):c.24127_24130dup (p.Asn8044fs)	NEB, RIF1 (N8079fs +1 more)	Duplication (frameshift variant +1 more)	Nemaline myopathy 2	GLikely pathogenic
Select item 279977	NM_001164508.2(NEB):c.24114+1G>A	NEB, RIF1	Single nucleotide variant (intron variant +1 more)	Nemaline myopathy 2 +2 more	GPathogenic/Likely pathogenic
Select item 496134	NM_001164508.2(NEB):c.24113C>A (p.Ser8038Ter)	RIF1, NEB (S8073* +1 more)	Single nucleotide variant (nonsense +1 more)	Nemaline myopathy +3 more	GPathogenic/Likely pathogenic
Select item 554466	NM_001164508.2(NEB):c.24096_24099dup (p.Glu8034fs)	NEB, RIF1 (E8069fs +1 more)	Duplication (frameshift variant +1 more)	Arthrogryposis multiplex congenita 6 +1 more	GPathogenic/Likely pathogenic
Select item 558119	NM_001164508.2(NEB):c.24039del (p.Asn8013fs)	NEB, RIF1 (N8048fs +1 more)	Deletion (frameshift variant +1 more)	Nemaline myopathy 2	GLikely pathogenic
Select item 555293	NM_001164508.2(NEB):c.24024_24028dup (p.Tyr8010fs)	NEB, RIF1 (Y8010fs +1 more)	Duplication (frameshift variant +1 more)	Nemaline myopathy 2 +1 more	GPathogenic/Likely pathogenic
Select item 554862	NM_001164508.2(NEB):c.24022-1_24029del	NEB, RIF1	Deletion (intron variant +1 more)	Nemaline myopathy 2	GLikely pathogenic
Select item 552005	NM_001164508.2(NEB):c.24023_24026dup (p.Leu8009fs)	NEB, RIF1 (L8009fs +1 more)	Duplication (frameshift variant +1 more)	Nemaline myopathy 2	GLikely pathogenic
Select item 553437	NM_001164508.2(NEB):c.24022-1G>A	NEB, RIF1	Single nucleotide variant (intron variant +1 more)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 551556	NM_001164508.2(NEB):c.24022-1G>C	NEB, RIF1	Single nucleotide variant (intron variant +1 more)	Nemaline myopathy 2	GLikely pathogenic
Select item 557756	NM_001164508.2(NEB):c.24014_24015dup (p.Ser8006fs)	NEB, RIF1 (S8006fs +1 more)	Duplication (frameshift variant +1 more)	Arthrogryposis multiplex congenita 6 +1 more	GConflicting classifications of pathogenicity
Select item 556497	NM_001164508.2(NEB):c.24012_24014dup (p.Phe8005dup)	NEB, RIF1	Duplication (inframe_insertion +1 more)	Nemaline myopathy 2	GUncertain significance
Select item 553504	NM_001164508.2(NEB):c.24003_24006del (p.Asn8001fs)	NEB, RIF1 (N8001fs +1 more)	Microsatellite (frameshift variant +1 more)	Nemaline myopathy 2	GUncertain significance
Select item 373977	NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter)	NEB, RIF1 (R8032* +1 more)	Single nucleotide variant (nonsense +1 more)	Nemaline myopathy 2 +6 more	GPathogenic/Likely pathogenic
Select item 465574	NM_001164508.2(NEB):c.23967_23970del (p.Pro7990fs)	NEB, RIF1 (P7990fs +1 more)	Deletion (frameshift variant +1 more)	Arthrogryposis multiplex congenita 6 +2 more	GConflicting classifications of pathogenicity
Select item 554273	NM_001164508.2(NEB):c.23937C>G (p.Tyr7979Ter)	NEB, RIF1 (Y8014* +1 more)	Single nucleotide variant (nonsense +1 more)	Nemaline myopathy +2 more	GConflicting classifications of pathogenicity
Select item 551770	NM_001164508.2(NEB):c.23929-1_23930dup	NEB, RIF1	Duplication (intron variant +1 more)	Nemaline myopathy 2	GUncertain significance
Select item 556839	NM_001164508.2(NEB):c.23929-7CA[2]	NEB, RIF1	Microsatellite (intron variant +1 more)	Nemaline myopathy 2	GUncertain significance
Select item 554692	NM_001164508.2(NEB):c.23929-2A>C	NEB, RIF1	Single nucleotide variant (intron variant +1 more)	Nemaline myopathy 2	GConflicting classifications of pathogenicity
Select item 556771	NM_001164508.2(NEB):c.23910_23913dup (p.Glu7972fs)	NEB, RIF1 (E7972fs +2 more)	Duplication (frameshift variant)	Nemaline myopathy 2 +1 more	GConflicting classifications of pathogenicity
Select item 552902	NM_001164508.2(NEB):c.23872_23874dup (p.Thr7958dup)	NEB, RIF1	Duplication (inframe_insertion)	Nemaline myopathy 2	GUncertain significance
Select item 551756	NM_001164508.2(NEB):c.23848_23850del (p.Glu7950del)	NEB, RIF1 (E7985del +2 more)	Deletion (inframe_deletion)	Nemaline myopathy 2	GUncertain significance
Select item 422318	NM_001271208.1(NEB):c.23940+17_23940+21del	NEB, RIF1	Deletion (intron variant)	Nemaline myopathy 2 +1 more	GLikely benign
Select item 556809	NM_001164508.2(NEB):c.23835+1G>A	RIF1, NEB	Single nucleotide variant (splice donor variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 558061	NM_001164508.2(NEB):c.23834C>A (p.Ser7945Ter)	NEB, RIF1 (S7980* +2 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2	GLikely pathogenic
Select item 552072	NM_001164508.2(NEB):c.23638_23640del (p.His7880del)	NEB, RIF1 (H7915del +2 more)	Deletion (inframe_deletion)	Nemaline myopathy 2	GUncertain significance
Select item 551322	NM_001164508.2(NEB):c.23497GTT[1] (p.Val7834del)	NEB, RIF1 (V7869del +2 more)	Microsatellite (inframe_deletion)	Nemaline myopathy 2	GUncertain significance
Select item 558659	NM_001164508.2(NEB):c.23451+1G>T	NEB, RIF1	Single nucleotide variant (splice donor variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 557373	NM_001164508.2(NEB):c.23451+1G>C	NEB, RIF1	Single nucleotide variant (splice donor variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 557005	NM_001164508.2(NEB):c.23421_23422del (p.Arg7807fs)	NEB, RIF1 (R6106fs +2 more)	Microsatellite (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 556284	NM_001164508.2(NEB):c.23415dup (p.Gln7806fs)	NEB, RIF1 (Q6105fs +2 more)	Duplication (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic

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