"Fulgent Genetics, Fulgent Genetics"[submitter] AND "NEB"[gene] - ClinVar

Search results

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 571908	NM_001164508.2(NEB):c.25203_25204inv (p.Ile8402Val)	RIF1, NEB (I8437V +2 more)	Inversion (missense variant)	Nemaline myopathy 2 +1 more	GUncertain significance
Select item 451684	NM_001164508.2(NEB):c.25183C>T (p.Arg8395Ter)	NEB, RIF1 (R8430* +2 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2 +3 more	GPathogenic/Likely pathogenic
Select item 566656	NM_001164508.2(NEB):c.25172G>A (p.Arg8391Gln)	NEB, RIF1 (R8426Q +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 816837	NM_001164508.2(NEB):c.24988C>T (p.Arg8330Ter)	NEB, RIF1 (R6474* +2 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2 +3 more	GPathogenic
Select item 664594	NM_001164508.2(NEB):c.24650G>A (p.Arg8217His)	NEB, RIF1 (R8217H +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +2 more	GConflicting classifications of pathogenicity
Select item 521691	NM_001164508.2(NEB):c.24579G>A (p.Ser8193=)	NEB, RIF1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic
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 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 1458223	NM_001164508.2(NEB):c.24182_24185dup (p.His8062fs)	NEB, RIF1 (H8062fs +1 more)	Duplication (frameshift variant +1 more)	not provided +2 more	GPathogenic
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 1379855	NM_001164508.2(NEB):c.24114G>A (p.Ser8038=)	NEB, RIF1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GUncertain significance
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 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 581867	NM_001164508.2(NEB):c.23986G>A (p.Glu7996Lys)	NEB, RIF1 (E8031K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 129733	NM_001164508.2(NEB):c.23495C>T (p.Thr7832Ile)	RIF1, NEB (T7867I +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +3 more	GBenign/Likely benign
Select item 566369	NM_001164508.2(NEB):c.22441A>G (p.Ile7481Val)	NEB, RIF1 (I7516V +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +2 more	GUncertain significance
Select item 1515037	NM_001164508.2(NEB):c.22181T>C (p.Phe7394Ser)	NEB, RIF1 (F5693S +2 more)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita 6 +1 more	GUncertain significance
Select item 578209	NM_001164508.2(NEB):c.22170C>G (p.Tyr7390Ter)	NEB, RIF1 (Y7425* +2 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 991197	NM_001164508.2(NEB):c.22117C>T (p.Arg7373Trp)	NEB, RIF1 (R5672W +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +1 more	GUncertain significance
Select item 534023	NM_001164508.2(NEB):c.21994G>A (p.Val7332Ile)	NEB, RIF1 (V7367I +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +1 more	GConflicting classifications of pathogenicity
Select item 581166	NM_001164508.2(NEB):c.21970A>C (p.Lys7324Gln)	NEB, RIF1 (K7359Q +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1499881	NM_001164508.2(NEB):c.21840T>C (p.Asp7280=)	NEB, RIF1	Single nucleotide variant (synonymous variant)	Arthrogryposis multiplex congenita 6 +1 more	GUncertain significance
Select item 707398	NM_001164508.2(NEB):c.21270G>T (p.Pro7090=)	NEB	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2 +1 more	GLikely benign
Select item 190457	NM_001164508.2(NEB):c.21076C>T (p.Arg7026Ter)	NEB (R7026* +1 more)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6 +3 more	GPathogenic/Likely pathogenic
Select item 393007	NM_001164508.2(NEB):c.20956G>C (p.Asp6986His)	NEB (D6986H +1 more)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita 6 +2 more	GConflicting classifications of pathogenicity
Select item 281478	NM_001164508.2(NEB):c.20654C>T (p.Ala6885Val)	NEB (A6885V +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +3 more	GConflicting classifications of pathogenicity
Select item 552067	NM_001164508.2(NEB):c.20442_20447dup (p.Ser6815_Arg6816dup)	NEB	Duplication (inframe_insertion)	Nemaline myopathy 2 +1 more	GUncertain significance
Select item 533973	NM_001164508.2(NEB):c.20245C>A (p.Gln6749Lys)	NEB (Q6749K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1034950	NM_001164508.2(NEB):c.20132G>A (p.Arg6711Gln)	NEB (R5010Q +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +2 more	GConflicting classifications of pathogenicity
Select item 991525	NM_001164508.2(NEB):c.20033G>A (p.Arg6678His)	NEB (R4977H +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +2 more	GConflicting classifications of pathogenicity
Select item 286378	NM_001164508.2(NEB):c.19966C>T (p.Arg6656Cys)	NEB (R4955C +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +2 more	GConflicting classifications of pathogenicity
Select item 1355416	NM_001164508.2(NEB):c.19861C>T (p.His6621Tyr)	NEB (H4920Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 756441	NM_001164508.2(NEB):c.19732-8C>T	NEB	Single nucleotide variant (intron variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely benign
Select item 971838	NM_001164508.2(NEB):c.19724G>A (p.Arg6575His)	NEB (R4874H +1 more)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita 6 +2 more	GConflicting classifications of pathogenicity
Select item 281124	NM_001164508.2(NEB):c.19286C>A (p.Ala6429Asp)	NEB (A4728D +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +2 more	GBenign/Likely benign
Select item 281125	NM_001164508.2(NEB):c.19285G>A (p.Ala6429Thr)	NEB (A6429T +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +3 more	GBenign/Likely benign
Select item 129716	NM_001164508.2(NEB):c.19056G>T (p.Thr6352=)	NEB	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2 +3 more	GBenign/Likely benign
Select item 552061	NM_001164508.2(NEB):c.18891+1G>A	NEB	Single nucleotide variant (splice donor variant)	Arthrogryposis multiplex congenita 6 +2 more	GPathogenic/Likely pathogenic
Select item 199223	NM_001164508.2(NEB):c.18862G>A (p.Val6288Ile)	NEB (V6288I +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +3 more	GConflicting classifications of pathogenicity
Select item 646996	NM_001164508.2(NEB):c.18859C>T (p.Arg6287Cys)	NEB (R4586C +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +3 more	GConflicting classifications of pathogenicity
Select item 552222	NM_001164508.2(NEB):c.18694-6_18694-2del	NEB	Deletion (splice acceptor variant)	Arthrogryposis multiplex congenita 6 +1 more	GUncertain significance
Select item 129714	NM_001164508.2(NEB):c.18693G>C (p.Ala6231=)	NEB	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 557505	NM_001164508.2(NEB):c.18676C>T (p.Gln6226Ter)	NEB (Q6226* +1 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2 +2 more	GPathogenic
Select item 1076255	NM_001164508.2(NEB):c.18504_18517del (p.Lys6168fs)	NEB (K4467fs +1 more)	Deletion (frameshift variant)	Nemaline myopathy 2 +1 more	GPathogenic/Likely pathogenic
Select item 1066715	NM_001164508.2(NEB):c.18472-1G>C	NEB	Single nucleotide variant (splice acceptor variant)	Nemaline myopathy 2 +2 more	GLikely pathogenic
Select item 129712	NM_001164508.2(NEB):c.18113A>G (p.Asn6038Ser)	NEB (N6038S +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 581901	NM_001164508.2(NEB):c.17828del (p.Asn5943fs)	NEB (N4242fs +1 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 226843	NM_001164508.2(NEB):c.17747A>G (p.Lys5916Arg)	NEB (K5916R +1 more)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita 6 +3 more	GBenign/Likely benign
Select item 331465	NM_001164508.2(NEB):c.17462G>A (p.Arg5821His)	NEB (R4120H +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +2 more	GConflicting classifications of pathogenicity
Select item 1044213	NM_001164508.2(NEB):c.17197C>T (p.Arg5733Cys)	NEB (R5733C +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +2 more	GUncertain significance
Select item 841709	NM_001164508.2(NEB):c.17118+1G>A	NEB	Single nucleotide variant (splice donor variant)	Nemaline myopathy 2 +3 more	GPathogenic
Select item 380917	NM_001164508.2(NEB):c.16669A>G (p.Ile5557Val)	NEB (I5557V)	Single nucleotide variant (missense variant +1 more)	Nemaline myopathy 2 +3 more	GBenign/Likely benign
Select item 511887	NM_001164508.2(NEB):c.14827-14CT[2]	NEB	Microsatellite (intron variant)	Arthrogryposis multiplex congenita 6 +2 more	GLikely benign
Select item 227724	NM_001164508.2(NEB):c.12667G>A (p.Ala4223Thr)	NEB (A4223T)	Single nucleotide variant (missense variant +1 more)	Nemaline myopathy 2 +2 more	GBenign/Likely benign
Select item 894362	NM_001164508.2(NEB):c.11717G>A (p.Arg3906His)	NEB (R3906H +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +3 more	GConflicting classifications of pathogenicity
Select item 465434	NM_001164508.2(NEB):c.11077C>T (p.Arg3693Cys)	NEB (R3693C +1 more)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita 6 +2 more	GUncertain significance
Select item 465431	NM_001164508.2(NEB):c.10802A>G (p.His3601Arg)	NEB (H3601R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 331480	NM_001164508.2(NEB):c.10583G>A (p.Arg3528His)	NEB (R3285H +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +2 more	GConflicting classifications of pathogenicity
Select item 331481	NM_001164508.2(NEB):c.10181T>C (p.Ile3394Thr)	NEB (I3394T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 969308	NM_001164508.2(NEB):c.9875T>C (p.Ile3292Thr)	NEB (I3292T +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +2 more	GUncertain significance
Select item 465657	NM_001164508.2(NEB):c.9853C>T (p.Arg3285Cys)	NEB (R3285C +1 more)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita 6 +2 more	GUncertain significance
Select item 379231	NM_001164508.2(NEB):c.9619-2A>G	NEB	Single nucleotide variant (splice acceptor variant)	Nemaline myopathy 2 +3 more	GPathogenic/Likely pathogenic
Select item 386988	NM_001164508.2(NEB):c.9139C>A (p.His3047Asn)	NEB (H3047N)	Single nucleotide variant (missense variant +1 more)	Nemaline myopathy 2 +2 more	GUncertain significance
Select item 257835	NM_001164508.2(NEB):c.9052G>A (p.Asp3018Asn)	NEB (D3018N)	Single nucleotide variant (missense variant +1 more)	Nemaline myopathy 2 +3 more	GBenign/Likely benign
Select item 1213189	NM_001164508.2(NEB):c.8425C>T (p.Arg2809Ter)	NEB (R2809*)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6 +2 more	GPathogenic/Likely pathogenic
Select item 654638	NM_001164508.2(NEB):c.8381A>T (p.Tyr2794Phe)	NEB (Y2794F)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita 6 +3 more	GConflicting classifications of pathogenicity
Select item 198003	NM_001164508.2(NEB):c.7861G>A (p.Asp2621Asn)	NEB (D2621N)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita 6 +2 more	GUncertain significance
Select item 242434	NM_001164508.2(NEB):c.7523_7526del (p.Ile2508fs)	NEB (I2508fs)	Deletion (frameshift variant)	Nemaline myopathy 2 +3 more	GPathogenic/Likely pathogenic
Select item 1339130	NM_001164508.2(NEB):c.7345C>T (p.Gln2449Ter)	NEB (Q2449*)	Single nucleotide variant (nonsense)	Nemaline myopathy 2 +1 more	GLikely pathogenic
Select item 533993	NM_001164508.2(NEB):c.7309C>T (p.Arg2437Trp)	NEB (R2437W)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita 6 +2 more	GConflicting classifications of pathogenicity
Select item 663380	NM_001164508.2(NEB):c.6481C>T (p.Arg2161Cys)	NEB (R2161C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 846324	NM_001164508.2(NEB):c.6262G>A (p.Val2088Ile)	NEB (V2088I)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +1 more	GConflicting classifications of pathogenicity
Select item 129752	NM_001164508.2(NEB):c.5971C>T (p.His1991Tyr)	NEB (H1991Y)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +3 more	GBenign
Select item 465620	NM_001164508.2(NEB):c.5939T>C (p.Leu1980Ser)	NEB (L1980S)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita 6 +2 more	GConflicting classifications of pathogenicity
Select item 449072	NM_001164508.2(NEB):c.5698_5703del (p.Tyr1900_Asn1901del)	NEB	Deletion (inframe_deletion)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 574235	NM_001164508.2(NEB):c.5495T>C (p.Ile1832Thr)	NEB (I1832T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 706293	NM_001164508.2(NEB):c.5452-4A>G	NEB	Single nucleotide variant (intron variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely benign
Select item 1458230	NM_001164508.2(NEB):c.5343+5G>A	NEB	Single nucleotide variant (intron variant)	Nemaline myopathy +2 more	GPathogenic/Likely pathogenic
Select item 331506	NM_001164508.2(NEB):c.5224C>T (p.Leu1742=)	NEB	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2 +1 more	GUncertain significance
Select item 465608	NM_001164508.2(NEB):c.4904C>T (p.Thr1635Ile)	NEB (T1635I)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +2 more	GConflicting classifications of pathogenicity
Select item 331509	NM_001164508.2(NEB):c.4666C>T (p.Pro1556Ser)	NEB (P1556S)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +2 more	GConflicting classifications of pathogenicity
Select item 582645	NM_001164508.2(NEB):c.4623del (p.Ala1542fs)	NEB (A1542fs)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita 6 +1 more	GPathogenic/Likely pathogenic
Select item 1066590	NM_001164508.2(NEB):c.4507-1G>A	NEB	Single nucleotide variant (splice acceptor variant)	Nemaline myopathy 2 +1 more	GLikely pathogenic
Select item 331512	NM_001164508.2(NEB):c.3987+11A>T	NEB	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 894539	NM_001164508.2(NEB):c.3571G>A (p.Val1191Ile)	NEB (V1191I)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +2 more	GConflicting classifications of pathogenicity
Select item 552035	NM_001164508.2(NEB):c.3255+1G>T	NEB	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 534006	NM_001164508.2(NEB):c.3127_3129dup (p.Asn1043dup)	NEB	Duplication (inframe_insertion)	Arthrogryposis multiplex congenita 6 +1 more	GConflicting classifications of pathogenicity
Select item 188731	NM_001164508.2(NEB):c.2784del (p.Asp929fs)	NEB (D929fs)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita 6 +2 more	GPathogenic/Likely pathogenic
Select item 703575	NM_001164508.2(NEB):c.1675-4C>G	NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2 +1 more	GLikely benign
Select item 129727	NM_001164508.2(NEB):c.1675-9T>G	NEB	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 990579	NM_001164508.2(NEB):c.1613A>G (p.His538Arg)	NEB (H538R)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita 6 +2 more	GUncertain significance
Select item 290878	NM_001164508.2(NEB):c.1550A>G (p.Asn517Ser)	NEB (N517S)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +2 more	GConflicting classifications of pathogenicity
Select item 1017862	NM_001164508.2(NEB):c.1544A>G (p.Gln515Arg)	NEB (Q515R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 95104	NM_001164508.2(NEB):c.1152+1G>A	NEB	Single nucleotide variant (splice donor variant)	Nemaline myopathy +3 more	GPathogenic
Select item 193880	NM_001164508.2(NEB):c.914A>G (p.Asp305Gly)	NEB (D305G)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 371551	NM_001164508.2(NEB):c.412C>T (p.Arg138Ter)	NEB (R138*)	Single nucleotide variant (nonsense)	Nemaline myopathy 2 +1 more	GPathogenic/Likely pathogenic
Select item 552018	NM_001164508.2(NEB):c.78+1G>A	NEB	Single nucleotide variant (splice donor variant)	Nemaline myopathy	GPathogenic FDA Recognized database
Select item 552631	NM_001164508.2(NEB):c.37-1G>A	NEB	Single nucleotide variant (splice acceptor variant)	Arthrogryposis multiplex congenita 6 +1 more	GPathogenic/Likely pathogenic

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Items: 99