"PreventionGenetics, part of Exact Sciences"[submitter] AND "NEB"[gene - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 331400	NM_001164508.2(NEB):c.25564G>A (p.Val8522Ile)	NEB, RIF1 (V6666I +2 more)	Single nucleotide variant (missense variant)	NEB-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 194578	NM_001164508.2(NEB):c.25542C>T (p.Thr8514=)	RIF1, NEB	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 435961	NM_001164508.2(NEB):c.25463A>G (p.Lys8488Arg)	NEB, RIF1 (K6632R +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +4 more	GConflicting classifications of pathogenicity
Select item 257805	NM_001164508.2(NEB):c.25405-17dup	NEB, RIF1	Duplication (intron variant)	not specified +2 more	GBenign
Select item 257806	NM_001164508.2(NEB):c.25405-34T>C	NEB, RIF1	Single nucleotide variant (intron variant)	Arthrogryposis multiplex congenita 6 +2 more	GBenign
Select item 129735	NM_001164508.2(NEB):c.25395T>G (p.Ser8465=)	NEB, RIF1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 194453	NM_001164508.2(NEB):c.25367C>T (p.Thr8456Met)	NEB, RIF1 (T8491M +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +5 more	GConflicting classifications of pathogenicity
Select item 575495	NM_001164508.2(NEB):c.25359A>C (p.Gln8453His)	NEB, RIF1 (Q8488H +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +1 more	GConflicting classifications of pathogenicity
Select item 534068	NM_001164508.2(NEB):c.25260G>A (p.Ser8420=)	NEB, RIF1	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2 +2 more	GConflicting classifications of pathogenicity
Select item 95126	NM_001164508.2(NEB):c.25204A>G (p.Ile8402Val)	NEB, RIF1 (I6546V +2 more)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita 6 +3 more	GBenign
Select item 451684	NM_001164508.2(NEB):c.25183C>T (p.Arg8395Ter)	NEB, RIF1 (R8430* +2 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2 +2 more	GPathogenic/Likely pathogenic
Select item 226845	NM_001164508.2(NEB):c.25150+12G>A	NEB, RIF1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 95124	NM_001164508.2(NEB):c.25038A>G (p.Gln8346=)	NEB, RIF1	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2 +3 more	GConflicting classifications of pathogenicity
Select item 95123	NM_001164508.2(NEB):c.25035C>T (p.Asp8345=)	NEB, RIF1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 991193	NM_001164508.2(NEB):c.24999G>C (p.Gln8333His)	RIF1, NEB (Q6477H +2 more)	Single nucleotide variant (missense variant)	NEB-related disorder	GUncertain significance
Select item 703852	NM_001164508.2(NEB):c.24874-8C>T	NEB, RIF1	Single nucleotide variant (intron variant)	NEB-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 257804	NM_001164508.2(NEB):c.24874-47A>T	NEB, RIF1	Single nucleotide variant (intron variant)	Arthrogryposis multiplex congenita 6 +2 more	GBenign
Select item 2074517	NM_001164508.2(NEB):c.24860G>A (p.Arg8287Gln)	NEB, RIF1 (R6431Q +2 more)	Single nucleotide variant (missense variant)	NEB-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 95122	NM_001164508.2(NEB):c.24766-18C>T	NEB, RIF1	Single nucleotide variant (intron variant)	Arthrogryposis multiplex congenita 6 +3 more	GBenign
Select item 257803	NM_001164508.2(NEB):c.24673-20T>C	NEB, RIF1	Single nucleotide variant (intron variant)	Nemaline myopathy 2 +1 more	GLikely benign
Select item 708622	NM_001164508.2(NEB):c.24570C>T (p.Asn8190=)	NEB, RIF1	Single nucleotide variant (synonymous variant)	NEB-related disorder +1 more	GLikely benign
Select item 284307	NM_001164508.2(NEB):c.24520G>A (p.Ala8174Thr)	NEB, RIF1 (A8209T +2 more)	Single nucleotide variant (missense variant)	NEB-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 95120	NM_001164508.2(NEB):c.24433G>C (p.Ala8145Pro)	NEB, RIF1 (A6289P +2 more)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita 6 +3 more	GBenign
Select item 3050963	NM_001164508.2(NEB):c.24410del (p.Asn8137fs)	NEB, RIF1 (N6281fs +2 more)	Deletion (frameshift variant)	NEB-related disorder	GPathogenic
Select item 739160	NM_001164508.2(NEB):c.24301-7C>T	NEB, RIF1	Single nucleotide variant (intron variant)	NEB-related disorder +1 more	GLikely benign
Select item 226844	NM_001164508.2(NEB):c.24208-7C>T	NEB, RIF1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 558507	NM_001164508.2(NEB):c.24207G>A (p.Ser8069=)	NEB, RIF1	Single nucleotide variant (synonymous variant +1 more)	Nemaline myopathy 2 +1 more	GConflicting classifications of pathogenicity
Select item 3047730	NM_001164508.2(NEB):c.24115-143_24115-140del	NEB, RIF1	Microsatellite (intron variant)	NEB-related disorder	GLikely benign
Select item 257802	NM_001164508.2(NEB):c.24108T>C (p.Phe8036=)	NEB, RIF1	Single nucleotide variant (synonymous variant +1 more)	Nemaline myopathy 2 +1 more	GLikely benign
Select item 257801	NM_001164508.2(NEB):c.24058A>G (p.Ile8020Val)	NEB, RIF1 (I8055V +1 more)	Single nucleotide variant (missense variant +1 more)	Nemaline myopathy 2 +1 more	GLikely benign
Select item 373977	NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter)	NEB, RIF1 (R8032* +1 more)	Single nucleotide variant (nonsense +1 more)	NEB-related disorder +7 more	GPathogenic/Likely pathogenic
Select item 257800	NM_001164508.2(NEB):c.23929-45A>G	NEB, RIF1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 465573	NM_001164508.2(NEB):c.23840T>G (p.Leu7947Trp)	RIF1, NEB (L7982W +2 more)	Single nucleotide variant (missense variant)	NEB-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 167327	NM_001164508.2(NEB):c.23763G>C (p.Leu7921Phe)	NEB, RIF1 (L6220F +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +2 more	GConflicting classifications of pathogenicity
Select item 3030500	NM_001164508.2(NEB):c.23650-7T>A	RIF1, NEB	Single nucleotide variant (intron variant)	NEB-related disorder	GLikely benign
Select item 211585	NM_001164508.2(NEB):c.23649+10_23649+11del	NEB, RIF1	Microsatellite (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 95119	NM_001164508.2(NEB):c.23648C>T (p.Ser7883Leu)	NEB, RIF1 (S6182L +2 more)	Single nucleotide variant (missense variant)	NEB-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 194308	NM_001164508.2(NEB):c.23599A>C (p.Lys7867Gln)	NEB, RIF1 (K7902Q +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 534005	NM_001164508.2(NEB):c.23524C>T (p.Arg7842Cys)	NEB, RIF1 (R7877C +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +2 more	GConflicting classifications of pathogenicity
Select item 450098	NM_001164508.2(NEB):c.23477A>G (p.Asn7826Ser)	NEB, RIF1 (N7861S +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +3 more	GConflicting classifications of pathogenicity
Select item 129732	NM_001164508.2(NEB):c.23381C>T (p.Ser7794Leu)	NEB, RIF1 (S7829L +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 95118	NM_001164508.2(NEB):c.23278A>G (p.Asn7760Asp)	RIF1, NEB (N6059D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 167328	NM_001164508.2(NEB):c.23267T>C (p.Met7756Thr)	NEB, RIF1 (M6055T +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 257799	NM_001164508.2(NEB):c.23242-50_23242-47dup	RIF1, NEB	Duplication (intron variant)	not specified	GBenign
Select item 257798	NM_001164508.2(NEB):c.23241+42T>C	NEB, RIF1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 257797	NM_001164508.2(NEB):c.23185G>A (p.Ala7729Thr)	RIF1, NEB (A7764T +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1630671	NM_001164508.2(NEB):c.23160C>G (p.Val7720=)	RIF1, NEB	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2 +1 more	GLikely benign
Select item 257796	NM_001164508.2(NEB):c.23141G>A (p.Arg7714Gln)	NEB, RIF1 (R7749Q +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +3 more	GConflicting classifications of pathogenicity
Select item 194297	NM_001164508.2(NEB):c.23055G>A (p.Gly7685=)	NEB, RIF1	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2 +2 more	GBenign
Select item 534019	NM_001164508.2(NEB):c.23017-3T>C	NEB, RIF1	Single nucleotide variant (intron variant)	Nemaline myopathy 2 +1 more	GConflicting classifications of pathogenicity
Select item 257794	NM_001164508.2(NEB):c.23017-21T>C	NEB, RIF1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 194291	NM_001164508.2(NEB):c.22904G>A (p.Gly7635Glu)	NEB, RIF1 (G7670E +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 257792	NM_001164508.2(NEB):c.22800+32C>T	NEB, RIF1	Single nucleotide variant (intron variant)	Arthrogryposis multiplex congenita 6 +2 more	GBenign
Select item 510426	NM_001164508.2(NEB):c.22800+9A>G	RIF1, NEB	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1085194	NM_001164508.2(NEB):c.22785A>G (p.Thr7595=)	NEB, RIF1	Single nucleotide variant (synonymous variant)	NEB-related disorder +1 more	GLikely benign
Select item 257791	NM_001164508.2(NEB):c.22695+40C>T	NEB, RIF1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 465567	NM_001164508.2(NEB):c.22642A>G (p.Lys7548Glu)	NEB, RIF1 (K7583E +2 more)	Single nucleotide variant (missense variant)	NEB-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1125970	NM_001164508.2(NEB):c.22500C>T (p.Phe7500=)	NEB, RIF1	Single nucleotide variant (synonymous variant)	NEB-related disorder +1 more	GLikely benign
Select item 95116	NM_001164508.2(NEB):c.22161+18G>C	NEB, RIF1	Single nucleotide variant (intron variant)	Arthrogryposis multiplex congenita 6 +3 more	GBenign
Select item 378269	NM_001164508.2(NEB):c.22122C>G (p.Asp7374Glu)	NEB, RIF1 (D7409E +2 more)	Single nucleotide variant (missense variant)	NEB-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 2635184	NM_001164508.2(NEB):c.22079A>T (p.His7360Leu)	NEB, RIF1 (H5659L +2 more)	Single nucleotide variant (missense variant)	NEB-related disorder	GUncertain significance
Select item 194142	NM_001164508.2(NEB):c.22005G>A (p.Thr7335=)	NEB, RIF1	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2 +2 more	GConflicting classifications of pathogenicity
Select item 129729	NM_001164508.2(NEB):c.21963A>G (p.Lys7321=)	NEB, RIF1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2871634	NM_001164508.2(NEB):c.21946-5del	NEB, RIF1	Deletion (intron variant)	NEB-related disorder +1 more	GLikely benign
Select item 129728	NM_001164508.2(NEB):c.21856G>A (p.Asp7286Asn)	NEB, RIF1 (D7321N +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +1 more	GBenign
Select item 465557	NM_001164508.2(NEB):c.21841-6T>A	NEB, RIF1	Single nucleotide variant (intron variant)	NEB-related disorder +1 more	GLikely benign
Select item 257790	NM_001164508.2(NEB):c.21840+13A>C	NEB, RIF1	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 465556	NM_001164508.2(NEB):c.21838G>A (p.Asp7280Asn)	NEB, RIF1 (D7315N +2 more)	Single nucleotide variant (missense variant)	NEB-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 193961	NM_001164508.2(NEB):c.21685G>C (p.Asp7229His)	NEB, RIF1 (D7264H +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 465554	NM_001164508.2(NEB):c.21673A>T (p.Thr7225Ser)	NEB, RIF1 (T7260S +2 more)	Single nucleotide variant (missense variant)	NEB-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 95114	NM_001164508.2(NEB):c.21585A>G (p.Thr7195=)	NEB, RIF1	Single nucleotide variant (synonymous variant)	Arthrogryposis multiplex congenita 6 +3 more	GBenign
Select item 465553	NM_001164508.2(NEB):c.21579C>T (p.His7193=)	NEB, RIF1	Single nucleotide variant (synonymous variant)	NEB-related disorder +1 more	GLikely benign
Select item 95113	NM_001164508.2(NEB):c.21546C>T (p.Asn7182=)	NEB, RIF1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 129725	NM_001164508.2(NEB):c.21519C>T (p.Ser7173=)	NEB, RIF1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 95112	NM_001164508.2(NEB):c.21418-6del	NEB, RIF1	Deletion (intron variant)	Nemaline Myopathy, Recessive +3 more	GBenign
Select item 257789	NM_001164508.2(NEB):c.21406A>T (p.Met7136Leu)	RIF1, NEB (M7171L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 257788	NM_001164508.2(NEB):c.21382T>C (p.Leu7128=)	NEB, RIF1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 794869	NM_001164508.2(NEB):c.21321T>C (p.Tyr7107=)	NEB, RIF1	Single nucleotide variant (synonymous variant +1 more)	Nemaline myopathy 2 +1 more	GLikely benign
Select item 2630584	NM_001164508.2(NEB):c.21214_21217delinsAAT (p.Tyr7072fs)	NEB (Y5371fs +1 more)	Indel (frameshift variant)	NEB-related disorder	GLikely pathogenic
Select item 129724	NM_001164508.2(NEB):c.21044C>G (p.Ser7015Cys)	NEB (S7015C +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +2 more	GBenign/Likely benign
Select item 257786	NM_001164508.2(NEB):c.20998-44A>C	NEB	Single nucleotide variant (intron variant)	Arthrogryposis multiplex congenita 6 +2 more	GBenign
Select item 257787	NM_001164508.2(NEB):c.20998-49C>T	NEB	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 393007	NM_001164508.2(NEB):c.20956G>C (p.Asp6986His)	NEB (D6986H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 465543	NM_001164508.2(NEB):c.20853C>T (p.Ile6951=)	NEB	Single nucleotide variant (synonymous variant)	NEB-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 129723	NM_001164508.2(NEB):c.20766C>T (p.Asp6922=)	NEB	Single nucleotide variant (synonymous variant)	Arthrogryposis multiplex congenita 6 +2 more	GBenign
Select item 193783	NM_001164508.2(NEB):c.20671C>T (p.Leu6891Phe)	NEB (L6891F +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +2 more	GConflicting classifications of pathogenicity
Select item 129722	NM_001164508.2(NEB):c.20598C>G (p.Gly6866=)	NEB	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 465538	NM_001164508.2(NEB):c.20467-2dup	NEB	Duplication (splice acceptor variant)	NEB-related disorder +1 more	GLikely benign
Select item 465540	NM_001164508.2(NEB):c.20467-5T>A	NEB	Single nucleotide variant (intron variant)	NEB-related disorder +1 more	GLikely benign
Select item 257785	NM_001164508.2(NEB):c.20466+11A>G	NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2 +1 more	GConflicting classifications of pathogenicity
Select item 257784	NM_001164508.2(NEB):c.20263-18G>A	NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2 +1 more	GLikely benign
Select item 129721	NM_001164508.2(NEB):c.20192A>T (p.Asp6731Val)	NEB (D6731V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 257783	NM_001164508.2(NEB):c.20158-42G>A	NEB	Single nucleotide variant (intron variant)	Arthrogryposis multiplex congenita 6 +2 more	GBenign
Select item 465532	NM_001164508.2(NEB):c.20128G>A (p.Val6710Ile)	NEB (V6710I +1 more)	Single nucleotide variant (missense variant)	NEB-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 129720	NM_001164508.2(NEB):c.20078C>T (p.Thr6693Ile)	NEB (T6693I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 331438	NM_001164508.2(NEB):c.20032C>T (p.Arg6678Cys)	NEB (R6678C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 465529	NM_001164508.2(NEB):c.19944+3G>A	NEB	Single nucleotide variant (intron variant)	NEB-related disorder +2 more	GBenign/Likely benign
Select item 235402	NM_001164508.2(NEB):c.19944G>A (p.Ser6648=)	NEB	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2 +5 more	GPathogenic/Likely pathogenic
Select item 510425	NM_001164508.2(NEB):c.19836+10C>G	NEB	Single nucleotide variant (intron variant)	NEB-related disorder +2 more	GLikely benign
Select item 129719	NM_001164508.2(NEB):c.19732-6C>T	NEB	Single nucleotide variant (intron variant)	not specified +1 more	GBenign

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