"GeneDx"[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)	Nemaline myopathy 2 +1 more	GConflicting classifications of pathogenicity
Select item 653358	NM_001164508.2(NEB):c.25555G>A (p.Ala8519Thr)	NEB, RIF1 (A6663T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 194578	NM_001164508.2(NEB):c.25542C>T (p.Thr8514=)	NEB, RIF1	Single nucleotide variant (synonymous variant)	not specified +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	GLikely benign FDA Recognized database
Select item 1310982	NM_001164508.2(NEB):c.25442A>G (p.Asp8481Gly)	NEB, RIF1 (D6625G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 257805	NM_001164508.2(NEB):c.25405-17dup	NEB, RIF1	Duplication (intron variant)	not specified +2 more	GBenign
Select item 129735	NM_001164508.2(NEB):c.25395T>G (p.Ser8465=)	NEB, RIF1	Single nucleotide variant (synonymous variant)	not specified +2 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 +4 more	GConflicting classifications of pathogenicity
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 1314677	NM_001164508.2(NEB):c.25298-12_25298-10del	NEB, RIF1	Deletion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 511062	NM_001164508.2(NEB):c.25289T>C (p.Val8430Ala)	NEB, RIF1 (V8465A +2 more)	Single nucleotide variant (missense 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)	not provided +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 +3 more	GPathogenic/Likely pathogenic
Select item 682360	NM_001164508.2(NEB):c.25174G>A (p.Glu8392Lys)	NEB, RIF1 (E6536K +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 331403	NM_001164508.2(NEB):c.25165C>T (p.Arg8389Trp)	NEB, RIF1 (R6533W +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 384490	NM_001164508.2(NEB):c.25161G>A (p.Gln8387=)	NEB, RIF1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 226845	NM_001164508.2(NEB):c.25150+12G>A	NEB, RIF1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 432070	NM_001164508.2(NEB):c.25057+1G>T	NEB, RIF1	Single nucleotide variant (splice donor variant)	Nemaline myopathy 2 +1 more	GLikely pathogenic
Select item 95124	NM_001164508.2(NEB):c.25038A>G (p.Gln8346=)	NEB, RIF1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +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 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 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 772757	NM_001164508.2(NEB):c.24909T>C (p.Gly8303=)	NEB, RIF1	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2 +1 more	GLikely benign
Select item 971630	NM_001164508.2(NEB):c.24841C>T (p.Arg8281Trp)	NEB, RIF1 (R6425W +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1315457	NM_001164508.2(NEB):c.24836T>C (p.Met8279Thr)	NEB, RIF1 (M6423T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 95122	NM_001164508.2(NEB):c.24766-18C>T	NEB, RIF1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 392054	NM_001164508.2(NEB):c.24738T>C (p.Ala8246=)	NEB, RIF1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
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 653080	NM_001164508.2(NEB):c.24707C>T (p.Pro8236Leu)	NEB, RIF1 (P6380L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 465584	NM_001164508.2(NEB):c.24645G>A (p.Val8215=)	NEB, RIF1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 514093	NM_001164508.2(NEB):c.24623T>G (p.Phe8208Cys)	NEB, RIF1 (F8243C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 1516501	NM_001164508.2(NEB):c.24574A>G (p.Ser8192Gly)	NEB, RIF1 (S8227G +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 648806	NM_001164508.2(NEB):c.24557G>A (p.Arg8186His)	NEB, RIF1 (R6330H +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1310496	NM_001164508.2(NEB):c.24556C>T (p.Arg8186Cys)	NEB, RIF1 (R6330C +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
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 384848	NM_001164508.2(NEB):c.24527C>T (p.Pro8176Leu)	NEB, RIF1 (P8211L +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +2 more	GConflicting classifications of pathogenicity
Select item 452489	NM_001164508.2(NEB):c.24521dup (p.Thr8175fs)	NEB, RIF1 (T8210fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 284307	NM_001164508.2(NEB):c.24520G>A (p.Ala8174Thr)	NEB, RIF1 (A8209T +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 513869	NM_001164508.2(NEB):c.24519C>T (p.Thr8173=)	NEB, RIF1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 373798	NM_001164508.2(NEB):c.24502_24504dup (p.Asn8168dup)	RIF1, NEB	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 381999	NM_001164508.2(NEB):c.24487-4A>G	NEB, RIF1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 95120	NM_001164508.2(NEB):c.24433G>C (p.Ala8145Pro)	NEB, RIF1 (A6289P +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 642598	NM_001164508.2(NEB):c.24382A>G (p.Asn8128Asp)	NEB, RIF1 (N8163D +1 more)	Single nucleotide variant (missense variant +1 more)	Nemaline myopathy 2 +1 more	GUncertain significance
Select item 392589	NM_001164508.2(NEB):c.24338T>C (p.Leu8113Pro)	NEB, RIF1 (L8148P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 510031	NM_001164508.2(NEB):c.24301-19T>A	NEB, RIF1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 510230	NM_001164508.2(NEB):c.24300G>C (p.Ser8100=)	NEB, RIF1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GUncertain significance
Select item 419830	NM_001164508.2(NEB):c.24289_24292dup (p.Ile8098fs)	NEB, RIF1 (I8098fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 388062	NM_001164508.2(NEB):c.24264G>A (p.Met8088Ile)	NEB, RIF1 (M8123I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 422612	NM_001164508.2(NEB):c.24213_24214insAA (p.Tyr8072fs)	NEB, RIF1 (Y8072fs +1 more)	Insertion (frameshift variant +1 more)	not provided	GPathogenic
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 424400	NM_001164508.2(NEB):c.24208-7C>A	RIF1, NEB	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 226844	NM_001164508.2(NEB):c.24208-7C>T	RIF1, NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2 +2 more	GBenign/Likely benign
Select item 725076	NM_001164508.2(NEB):c.24208-10T>C	NEB, RIF1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 513216	NM_001164508.2(NEB):c.24207+17G>C	NEB, RIF1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 513660	NM_001164508.2(NEB):c.24202A>G (p.Ser8068Gly)	RIF1, NEB (S8103G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 533994	NM_001164508.2(NEB):c.24189_24192dup (p.Glu8065fs)	NEB, RIF1 (E8100fs +1 more)	Duplication (frameshift variant +1 more)	Arthrogryposis multiplex congenita 6 +4 more	GPathogenic/Likely pathogenic
Select item 646331	NM_001164508.2(NEB):c.24171G>T (p.Met8057Ile)	NEB, RIF1 (M8057I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1698237	NM_001164508.2(NEB):c.24137G>A (p.Gly8046Glu)	NEB, RIF1 (G8046E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 654368	NM_001164508.2(NEB):c.24096T>G (p.Asn8032Lys)	NEB, RIF1 (N8067K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1307705	NM_001164508.2(NEB):c.24086T>C (p.Val8029Ala)	NEB, RIF1 (V8029A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 380238	NM_001164508.2(NEB):c.24056C>T (p.Pro8019Leu)	NEB, RIF1 (P8054L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 280373	NM_001164508.2(NEB):c.24051del (p.Ile8018fs)	RIF1, NEB (I8018fs +1 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 506584	NM_001164508.2(NEB):c.24041T>C (p.Val8014Ala)	NEB, RIF1 (V8049A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1352686	NM_001164508.2(NEB):c.24021G>A (p.Ser8007=)	RIF1, NEB	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 2120088	NM_001164508.2(NEB):c.23984T>A (p.Met7995Lys)	NEB, RIF1 (M7995K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 423603	NM_001164508.2(NEB):c.23984T>C (p.Met7995Thr)	NEB, RIF1 (M8030T +1 more)	Single nucleotide variant (missense variant +1 more)	Nemaline myopathy 2 +1 more	GUncertain significance
Select item 447757	NM_001164508.2(NEB):c.23927C>T (p.Ser7976Leu)	NEB, RIF1 (S8011L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 331410	NM_001164508.2(NEB):c.23905C>T (p.Arg7969Cys)	NEB, RIF1 (R6268C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 507277	NM_001164508.2(NEB):c.23854T>C (p.Leu7952=)	RIF1, NEB	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2 +1 more	GLikely benign
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 382680	NM_001164508.2(NEB):c.23835+14T>G	NEB, RIF1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 845595	NM_001164508.2(NEB):c.23812C>T (p.Arg7938Cys)	NEB, RIF1 (R7973C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 935852	NM_001164508.2(NEB):c.23803A>G (p.Arg7935Gly)	NEB, RIF1 (R6234G +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +1 more	GUncertain significance
Select item 194312	NM_001164508.2(NEB):c.23776C>T (p.Pro7926Ser)	NEB, RIF1 (P7961S +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +3 more	GConflicting classifications of pathogenicity
Select item 465572	NM_001164508.2(NEB):c.23770G>A (p.Gly7924Ser)	NEB, RIF1 (G7959S +2 more)	Single nucleotide variant (missense variant)	not provided +1 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 +1 more	GConflicting classifications of pathogenicity
Select item 390459	NM_001164508.2(NEB):c.23742+11T>C	NEB, RIF1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 450104	NM_001164508.2(NEB):c.23742+5T>C	NEB, RIF1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 375408	NM_001164508.2(NEB):c.23742+2T>C	NEB, RIF1	Single nucleotide variant (splice donor variant)	Arthrogryposis multiplex congenita 6 +3 more	GConflicting classifications of pathogenicity
Select item 1315416	NM_001164508.2(NEB):c.23704G>T (p.Val7902Leu)	NEB, RIF1 (V6201L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 95119	NM_001164508.2(NEB):c.23648C>T (p.Ser7883Leu)	NEB, RIF1 (S6182L +2 more)	Single nucleotide variant (missense variant)	not provided +1 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 specified +2 more	GBenign
Select item 572566	NM_001164508.2(NEB):c.23557-3C>G	NEB, RIF1	Single nucleotide variant (intron variant)	Nemaline myopathy 2 +1 more	GUncertain significance
Select item 1800766	NM_001164508.2(NEB):c.23556G>A (p.Ser7852=)	NEB, RIF1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 534005	NM_001164508.2(NEB):c.23524C>T (p.Arg7842Cys)	NEB, RIF1 (R7877C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 129734	NM_001164508.2(NEB):c.23511G>A (p.Thr7837=)	NEB, RIF1	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2 +2 more	GBenign/Likely benign
Select item 654581	NM_001164508.2(NEB):c.23510C>T (p.Thr7837Met)	NEB, RIF1 (T7837M +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +2 more	GConflicting classifications of pathogenicity
Select item 451955	NM_001164508.2(NEB):c.23500G>T (p.Val7834Phe)	NEB, RIF1 (V7869F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 450098	NM_001164508.2(NEB):c.23477A>G (p.Asn7826Ser)	NEB, RIF1 (N7861S +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +2 more	GConflicting classifications of pathogenicity
Select item 968993	NM_001164508.2(NEB):c.23416C>G (p.Gln7806Glu)	NEB, RIF1 (Q7806E +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +1 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 provided +2 more	GBenign/Likely benign
Select item 853979	NM_001164508.2(NEB):c.23359G>A (p.Glu7787Lys)	NEB, RIF1 (E6086K +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +1 more	GUncertain significance
Select item 511893	NM_001164508.2(NEB):c.23346+13G>A	NEB, RIF1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign

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