"Myriad Genetics, Inc."[submitter] AND "NEB"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1724475	NM_001164508.2(NEB):c.25215_25216del (p.Glu8406fs)	NEB, RIF1 (E6550fs +2 more)	Deletion (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 1726255	NM_001164508.2(NEB):c.25158_25159del (p.Gln8387fs)	NEB, RIF1 (Q6531fs +2 more)	Deletion (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 1726343	NM_001164508.2(NEB):c.25061del (p.Leu8354fs)	NEB, RIF1 (L6498fs +2 more)	Deletion (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 1726972	NM_001164508.2(NEB):c.24997C>T (p.Gln8333Ter)	NEB, RIF1 (Q6477* +2 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2	GLikely pathogenic
Select item 1726324	NM_001164508.2(NEB):c.24957_24958del (p.Asn8320fs)	NEB, RIF1 (N6464fs +2 more)	Deletion (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 1725697	NM_001164508.2(NEB):c.24913_24914delinsA (p.Phe8305fs)	NEB, RIF1 (F6449fs +2 more)	Indel (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 1725206	NM_001164508.2(NEB):c.24730G>T (p.Glu8244Ter)	RIF1, NEB (E6388* +2 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2	GLikely pathogenic
Select item 1726153	NM_001164508.2(NEB):c.24703dup (p.Thr8235fs)	NEB, RIF1 (T6379fs +2 more)	Duplication (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 1726134	NM_001164508.2(NEB):c.24662dup (p.Asn8221fs)	NEB, RIF1 (N6365fs +2 more)	Duplication (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 1724561	NM_001164508.2(NEB):c.24605_24606insCACTCAGC (p.Lys8202fs)	NEB, RIF1 (K6346fs +2 more)	Insertion (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 521691	NM_001164508.2(NEB):c.24579G>A (p.Ser8193=)	RIF1, NEB	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 1725327	NM_001164508.2(NEB):c.23551del (p.Ser7851fs)	NEB, RIF1 (S6150fs +2 more)	Deletion (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 1725243	NM_001164508.2(NEB):c.23502_23503del (p.Gln7835fs)	NEB, RIF1 (Q6134fs +2 more)	Deletion (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 1726002	NM_001164508.2(NEB):c.23457dup (p.Tyr7820fs)	NEB, RIF1 (Y6119fs +2 more)	Duplication (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 1724330	NM_001164508.2(NEB):c.23174_23187del (p.Leu7725fs)	NEB, RIF1 (L6024fs +2 more)	Deletion (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 1726865	NM_001164508.2(NEB):c.23186delinsGAATCA (p.Ala7729fs)	NEB, RIF1 (A6028fs +2 more)	Indel (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 1724288	NM_001164508.2(NEB):c.23162_23165delinsCAGATGTGTAT (p.Lys7721fs)	NEB, RIF1 (K6020fs +2 more)	Indel (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 1726579	NM_001164508.2(NEB):c.23161_23164del (p.Lys7721fs)	NEB, RIF1 (K6020fs +2 more)	Deletion (frameshift variant)	Nemaline myopathy 2	GPathogenic/Likely pathogenic
Select item 1726139	NM_001164508.2(NEB):c.23069_23072del (p.Glu7690fs)	NEB, RIF1 (E5989fs +2 more)	Deletion (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 1724069	NM_001164508.2(NEB):c.22939A>T (p.Lys7647Ter)	NEB, RIF1 (K5946* +2 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2	GLikely pathogenic
Select item 1725467	NM_001164508.2(NEB):c.22804A>T (p.Lys7602Ter)	NEB, RIF1 (K5901* +2 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2	GLikely pathogenic
Select item 1725768	NM_001164508.2(NEB):c.22622delinsTT (p.His7541fs)	NEB, RIF1 (H5840fs +2 more)	Indel (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 937167	NM_001164508.2(NEB):c.22511del (p.Lys7504fs)	NEB, RIF1 (K5803fs +2 more)	Deletion (frameshift variant)	Nemaline myopathy 2	GPathogenic/Likely pathogenic
Select item 1725201	NM_001164508.2(NEB):c.22500_22501del (p.Phe7500fs)	NEB, RIF1 (F5799fs +2 more)	Deletion (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 1725773	NM_001164508.2(NEB):c.22483A>T (p.Lys7495Ter)	NEB, RIF1 (K5794* +2 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2	GLikely pathogenic
Select item 1726483	NM_001164508.2(NEB):c.22353_22354insCA (p.Ala7452fs)	NEB, RIF1 (A5751fs +2 more)	Insertion (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 1724747	NM_001164508.2(NEB):c.22315dup (p.Thr7439fs)	NEB, RIF1 (T5738fs +2 more)	Duplication (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 1724779	NM_001164508.2(NEB):c.22294_22295insCAGATTTA (p.Lys7432fs)	NEB, RIF1 (K5731fs +2 more)	Insertion (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 1724754	NM_001164508.2(NEB):c.22287_22292delinsCGAT (p.Lys7429fs)	RIF1, NEB (K5728fs +2 more)	Indel (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 1726877	NM_001164508.2(NEB):c.22142_22143del (p.Val7381fs)	RIF1, NEB (V5680fs +2 more)	Deletion (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 1726526	NM_001164508.2(NEB):c.22048G>T (p.Glu7350Ter)	NEB, RIF1 (E5649* +2 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2	GLikely pathogenic
Select item 1726259	NM_001164508.2(NEB):c.21817A>T (p.Lys7273Ter)	NEB, RIF1 (K5572* +2 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2	GLikely pathogenic
Select item 1724338	NM_001164508.2(NEB):c.21744T>A (p.Tyr7248Ter)	NEB, RIF1 (Y5547* +2 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2	GLikely pathogenic
Select item 1725178	NM_001164508.2(NEB):c.21634A>T (p.Lys7212Ter)	NEB, RIF1 (K5511* +2 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2	GLikely pathogenic
Select item 1724523	NM_001164508.2(NEB):c.21624_21625insTTATACTTGACACCATG (p.Ser7209delinsLeuTyrLeuThrProTer)	NEB, RIF1	Insertion (nonsense)	Nemaline myopathy 2	GLikely pathogenic
Select item 1725009	NM_001164508.2(NEB):c.21213del (p.Lys7071fs)	NEB (K5370fs +1 more)	Deletion (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 1724606	NM_001164508.2(NEB):c.21130del (p.Gly7046fs)	NEB (G5345fs +1 more)	Deletion (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 1724145	NM_001164508.2(NEB):c.20978_20985delinsG (p.Val6993fs)	NEB (V5292fs +1 more)	Indel (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 1725080	NM_001164508.2(NEB):c.20875del (p.Tyr6959fs)	NEB (Y5258fs +1 more)	Deletion (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 1725749	NM_001164508.2(NEB):c.20813del (p.Lys6938fs)	NEB (K5237fs +1 more)	Deletion (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 1726918	NM_001164508.2(NEB):c.20691T>A (p.Tyr6897Ter)	NEB (Y5196* +1 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2	GLikely pathogenic
Select item 1726025	NM_001164508.2(NEB):c.20685T>A (p.Tyr6895Ter)	NEB (Y5194* +1 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2	GLikely pathogenic
Select item 1726600	NM_001164508.2(NEB):c.20650_20651insCCTCT (p.Arg6884fs)	NEB (R5183fs +1 more)	Insertion (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 1725045	NM_001164508.2(NEB):c.20364_20365del (p.Ser6788fs)	NEB (S5087fs +1 more)	Deletion (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 1726173	NM_001164508.2(NEB):c.20163_20164del (p.Tyr6722fs)	NEB (Y5021fs +1 more)	Deletion (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 1725140	NM_001164508.2(NEB):c.20059A>T (p.Lys6687Ter)	NEB (K4986* +1 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2	GLikely pathogenic
Select item 1726975	NM_001164508.2(NEB):c.19983dup (p.Tyr6662fs)	NEB (Y4961fs +1 more)	Duplication (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 1726490	NM_001164508.2(NEB):c.19981G>T (p.Gly6661Ter)	NEB (G4960* +1 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2	GLikely pathogenic
Select item 1724141	NM_001164508.2(NEB):c.19879_19880insCCCCATGC (p.Val6627fs)	NEB (V4926fs +1 more)	Insertion (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 1724983	NM_001164508.2(NEB):c.19442C>A (p.Ser6481Ter)	LOC126806373, NEB (S4780* +1 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2	GLikely pathogenic
Select item 1724676	NM_001164508.2(NEB):c.19374delinsAC (p.Asp6459fs)	NEB (D4758fs +1 more)	Indel (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 1725232	NM_001164508.2(NEB):c.19307_19308del (p.Ala6436fs)	NEB (A4735fs +1 more)	Deletion (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 1724689	NM_001164508.2(NEB):c.19168del (p.Tyr6390fs)	NEB (Y4689fs +1 more)	Deletion (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 1724484	NM_001164508.2(NEB):c.19106_19107del (p.Lys6369fs)	NEB (K4668fs +1 more)	Deletion (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 1725274	NM_001164508.2(NEB):c.19078_19079del (p.Gln6360fs)	NEB (Q4659fs +1 more)	Deletion (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 1726392	NM_001164508.2(NEB):c.18945G>A (p.Trp6315Ter)	NEB (W4614* +1 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2	GLikely pathogenic
Select item 1724517	NM_001164508.2(NEB):c.18937del (p.Tyr6313fs)	NEB (Y4612fs +1 more)	Deletion (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 1726917	NM_001164508.2(NEB):c.18900T>A (p.Tyr6300Ter)	NEB (Y4599* +1 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2	GLikely pathogenic
Select item 1726887	NM_001164508.2(NEB):c.18839_18841delinsA (p.Leu6280fs)	NEB (L4579fs +1 more)	Indel (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 1725115	NM_001164508.2(NEB):c.18809del (p.Arg6270fs)	NEB (R4569fs +1 more)	Deletion (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 1725184	NM_001164508.2(NEB):c.18795_18796del (p.Ser6265fs)	NEB (S4564fs +1 more)	Deletion (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 1725860	NM_001164508.2(NEB):c.18774_18775del (p.Arg6259fs)	NEB (R4558fs +1 more)	Deletion (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 1726346	NM_001164508.2(NEB):c.18769del (p.Ala6257fs)	NEB (A4556fs +1 more)	Deletion (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 1724036	NM_001164508.2(NEB):c.18724A>T (p.Lys6242Ter)	NEB (K4541* +1 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2	GLikely pathogenic
Select item 1726680	NM_001164508.2(NEB):c.18703_18704insT (p.Arg6235fs)	NEB (R4534fs +1 more)	Insertion (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 265494	NM_001164508.2(NEB):c.12018+1G>A	NEB	Single nucleotide variant (splice donor variant)	Nemaline myopathy 2 +1 more	GPathogenic/Likely pathogenic
Select item 1725817	NM_001164508.2(NEB):c.11986del (p.Ser3996fs)	NEB (S3753fs +1 more)	Deletion (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 1725570	NM_001164508.2(NEB):c.11923A>T (p.Lys3975Ter)	NEB (K3732* +1 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2	GLikely pathogenic
Select item 1726272	NM_001164508.2(NEB):c.11891del (p.Asn3964fs)	NEB (N3721fs +1 more)	Deletion (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 1725341	NM_001164508.2(NEB):c.11529del (p.His3844fs)	NEB (H3601fs +1 more)	Deletion (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 1724492	NM_001164508.2(NEB):c.11269delinsATCAGCCTCGA (p.Ser3757fs)	NEB (S3514fs +1 more)	Indel (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 1726841	NM_001164508.2(NEB):c.11254C>T (p.Gln3752Ter)	NEB (Q3509* +1 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2	GLikely pathogenic
Select item 1724308	NM_001164508.2(NEB):c.11140G>T (p.Glu3714Ter)	NEB (E3471* +1 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2	GLikely pathogenic
Select item 1724106	NM_001164508.2(NEB):c.10882A>T (p.Lys3628Ter)	NEB (K3385* +1 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2	GLikely pathogenic
Select item 1725772	NM_001164508.2(NEB):c.10738_10742del (p.Gly3580fs)	NEB (G3337fs +1 more)	Deletion (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 1724434	NM_001164508.2(NEB):c.10598_10599del (p.His3533fs)	NEB (H3290fs +1 more)	Deletion (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 1725147	NM_001164508.2(NEB):c.10255_10256insGTCTCTTA (p.Tyr3419fs)	NEB (Y3176fs +1 more)	Insertion (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 1726402	NM_001164508.2(NEB):c.10234G>T (p.Glu3412Ter)	NEB (E3169* +1 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2	GLikely pathogenic
Select item 1725120	NM_001164508.2(NEB):c.10222A>T (p.Lys3408Ter)	NEB (K3165* +1 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2	GLikely pathogenic
Select item 1725385	NM_001164508.2(NEB):c.10211_10212insCTAC (p.Val3405fs)	NEB (V3162fs +1 more)	Insertion (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 1724970	NM_001164508.2(NEB):c.10169_10170insCT (p.Trp3390fs)	NEB (W3147fs +1 more)	Insertion (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 1725548	NM_001164508.2(NEB):c.10165C>T (p.Gln3389Ter)	NEB (Q3146* +1 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2	GLikely pathogenic
Select item 1726605	NM_001164508.2(NEB):c.10054_10055delinsT (p.Asp3352fs)	NEB (D3109fs +1 more)	Indel (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 1726898	NM_001164508.2(NEB):c.9808_9809delinsTCTTTATGTT (p.Ala3270fs)	NEB (A3027fs +1 more)	Indel (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 1725721	NM_001164508.2(NEB):c.9775_9776del (p.Arg3259fs)	NEB (R3016fs +1 more)	Deletion (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 1724774	NM_001164508.2(NEB):c.9729_9731delinsCT (p.Tyr3244fs)	NEB (Y3001fs +1 more)	Indel (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 1725333	NM_001164508.2(NEB):c.9721G>T (p.Glu3241Ter)	NEB (E2998* +1 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2	GLikely pathogenic
Select item 1726236	NM_001164508.2(NEB):c.9667del (p.Met3223fs)	NEB (M2980fs +1 more)	Deletion (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 1726242	NM_001164508.2(NEB):c.9662del (p.His3221fs)	NEB (H2978fs +1 more)	Deletion (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 379231	NM_001164508.2(NEB):c.9619-2A>G	NEB	Single nucleotide variant (splice acceptor variant)	Arthrogryposis multiplex congenita 6 +2 more	GPathogenic/Likely pathogenic
Select item 1724470	NM_001164508.2(NEB):c.8834_8835del (p.Val2945fs)	NEB (V2945fs)	Microsatellite (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 1726394	NM_001164508.2(NEB):c.8750_8751insGCAGCAG (p.Asp2917fs)	NEB (D2917fs)	Insertion (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 1726553	NM_001164508.2(NEB):c.8638C>T (p.Gln2880Ter)	NEB (Q2880*)	Single nucleotide variant (nonsense)	Nemaline myopathy 2	GLikely pathogenic
Select item 1726344	NM_001164508.2(NEB):c.8569A>T (p.Lys2857Ter)	NEB (K2857*)	Single nucleotide variant (nonsense)	Nemaline myopathy 2	GLikely pathogenic
Select item 1725678	NM_001164508.2(NEB):c.8554del (p.Val2852fs)	NEB (V2852fs)	Deletion (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 1725475	NM_001164508.2(NEB):c.8240_8241del (p.Lys2747fs)	NEB (K2747fs)	Deletion (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 1724037	NM_001164508.2(NEB):c.8239A>T (p.Lys2747Ter)	NEB (K2747*)	Single nucleotide variant (nonsense)	Nemaline myopathy 2	GLikely pathogenic
Select item 1726384	NM_001164508.2(NEB):c.8233_8234del (p.Leu2745fs)	NEB (L2745fs)	Deletion (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 1725736	NM_001164508.2(NEB):c.8111_8112del (p.Asp2704fs)	NEB (D2704fs)	Deletion (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 1726322	NM_001164508.2(NEB):c.7978_7979del (p.Gln2660fs)	NEB (Q2660fs)	Deletion (frameshift variant)	Nemaline myopathy 2	GLikely pathogenic

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