ClinVar for MedGen (Select 342534) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25069571.	NM_001164508.2(NEB):c.21102+5G>A GRCh37: Chr2:152394381 GRCh38: Chr2:151537867	NEB		Nemaline myopathy 2	Uncertain significance (Jun 28, 2023)	criteria provided, single submitter
Select item 25065812.	NM_001164508.2(NEB):c.23494dup (p.Thr7832fs) GRCh37: Chr2:152363484-152363485 GRCh38: Chr2:151506970-151506971	NEB, RIF1	T6131fs, T7832fs, T7867fs	Nemaline myopathy 2	Likely pathogenic	criteria provided, single submitter
Select item 25055263.	NM_001164508.2(NEB):c.9638G>A (p.Trp3213Ter) GRCh37: Chr2:152487314 GRCh38: Chr2:151630800	NEB	W2970, W3213	Nemaline myopathy 2	Likely pathogenic	criteria provided, single submitter
Select item 25055254.	NM_001164508.2(NEB):c.4333A>T (p.Lys1445Ter) GRCh37: Chr2:152527710 GRCh38: Chr2:151671196	NEB	K1445*	Nemaline myopathy 2	Likely pathogenic	criteria provided, single submitter
Select item 25028725.	NM_001164508.2(NEB):c.10170G>A (p.Trp3390Ter) GRCh37: Chr2:152483693 GRCh38: Chr2:151627179	NEB	W3147, W3390	Nemaline myopathy 2	Likely pathogenic	criteria provided, single submitter
Select item 25009626.	NM_001164508.2(NEB):c.11805+2T>A GRCh37: Chr2:152468698 GRCh38: Chr2:151612184	NEB		Nemaline myopathy 2	Uncertain significance (May 2, 2023)	criteria provided, single submitter
Select item 25007907.	NM_001164508.2(NEB):c.11210C>T (p.Ser3737Phe) GRCh37: Chr2:152472595 GRCh38: Chr2:151616081	NEB	S3494F, S3737F	Nemaline myopathy 2	Uncertain significance (May 7, 2021)	criteria provided, single submitter
Select item 25007898.	NM_001164508.2(NEB):c.23034T>A (p.Asp7678Glu) GRCh37: Chr2:152370925 GRCh38: Chr2:151514411	RIF1, NEB	D5977E, D7678E, D7713E	Nemaline myopathy 2	Uncertain significance (May 7, 2021)	criteria provided, single submitter
Select item 24317719.	NM_001164508.2(NEB):c.19843_19853del (p.Tyr6615fs) GRCh37: Chr2:152408343-152408353 GRCh38: Chr2:151551829-151551839	NEB	Y4914fs, Y6615fs	Nemaline myopathy 2	Likely pathogenic (Oct 21, 2022)	criteria provided, single submitter
Select item 242825310.	NM_001164508.2(NEB):c.24016A>G (p.Ser8006Gly) GRCh37: Chr2:152357910 GRCh38: Chr2:151501396	NEB, RIF1	S8006G, S8041G	Nemaline myopathy 2	Likely benign (Oct 23, 2022)	criteria provided, single submitter
Select item 242808711.	NM_001164508.2(NEB):c.11778A>C (p.Ala3926=) GRCh37: Chr2:152468727 GRCh38: Chr2:151612213	NEB		Nemaline myopathy 2	Benign (Mar 19, 2022)	criteria provided, single submitter
Select item 242808612.	NM_001164508.2(NEB):c.25509G>A (p.Trp8503Ter) GRCh37: Chr2:152342343 GRCh38: Chr2:151485829	RIF1, NEB	W6647, W8503, W8538*	Nemaline myopathy 2, not provided	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 242805213.	NM_001164508.2(NEB):c.20893-10C>G GRCh37: Chr2:152394768 GRCh38: Chr2:151538254	NEB		Nemaline myopathy 2	Likely benign (Feb 2, 2022)	criteria provided, single submitter
Select item 242801714.	NM_001164508.2(NEB):c.19981G>C (p.Gly6661Arg) GRCh37: Chr2:152406218 GRCh38: Chr2:151549704	NEB	G4960R, G6661R	Nemaline myopathy 2	Likely benign (Oct 20, 2022)	criteria provided, single submitter
Select item 242449315.	NM_001164508.2(NEB):c.4802A>G (p.His1601Arg) GRCh37: Chr2:152522833 GRCh38: Chr2:151666319	NEB	H1601R	Nemaline myopathy 2	Uncertain significance (Jun 28, 2022)	criteria provided, single submitter
Select item 242407616.	NC_000002.11:g.(?_152499078)_(152500653_?)del GRCh37: Chr2:152499078-152500653	NEB		Nemaline myopathy 2	Pathogenic (Aug 6, 2022)	criteria provided, single submitter
Select item 242407417.	NC_000002.11:g.(?_152470770)_(152554182_?)del GRCh37: Chr2:152470770-152554182	NEB		Nemaline myopathy 2	Pathogenic (Oct 11, 2022)	criteria provided, single submitter
Select item 242407318.	NC_000002.11:g.(?_152417187)_(152418727_?)del GRCh37: Chr2:152417187-152418727	NEB		Nemaline myopathy 2	Pathogenic (Nov 14, 2021)	criteria provided, single submitter
Select item 242407219.	NC_000002.11:g.(?_152466303)_(152477560_?)dup GRCh37: Chr2:152466303-152477560	NEB		Nemaline myopathy 2	Uncertain significance (Dec 13, 2021)	criteria provided, single submitter
Select item 242407120.	NC_000002.11:g.(?_152348187)_(152425896_?)dup GRCh37: Chr2:152348187-152425896	NEB		Nemaline myopathy 2	Likely pathogenic (Sep 23, 2022)	criteria provided, single submitter
Select item 242407021.	NC_000002.11:g.(?_152506680)_(152510623_?)del GRCh37: Chr2:152506680-152510623	NEB		Nemaline myopathy 2	Pathogenic (Mar 26, 2022)	criteria provided, single submitter
Select item 242406922.	NC_000002.11:g.(?_152579876)_(152589670_?)del GRCh37: Chr2:152579876-152589670	NEB		Nemaline myopathy 2	Pathogenic (Aug 25, 2022)	criteria provided, single submitter
Select item 242406823.	NC_000002.11:g.(?_152369227)_(152376302_?)del GRCh37: Chr2:152369227-152376302	NEB		Nemaline myopathy 2	Uncertain significance (Dec 19, 2021)	criteria provided, single submitter
Select item 242406724.	NC_000002.11:g.(?_152466303)_(152563531_?)del GRCh37: Chr2:152466303-152563531	NEB		Nemaline myopathy 2	Pathogenic (Aug 25, 2022)	criteria provided, single submitter
Select item 242406625.	NC_000002.11:g.(?_152482028)_(152566297_?)del GRCh37: Chr2:152482028-152566297	NEB		Nemaline myopathy 2	Pathogenic (Nov 2, 2021)	criteria provided, single submitter
Select item 242406526.	NC_000002.11:g.(?_152408232)_(152432888_?)del GRCh37: Chr2:152408232-152432888	NEB		Nemaline myopathy 2	Pathogenic (Aug 25, 2022)	criteria provided, single submitter
Select item 242406427.	NC_000002.11:g.(?_152466303)_(152955525_?)del GRCh37: Chr2:152466303-152955525	CACNB4, ARL5A, NEB		Nemaline myopathy 2	Pathogenic (Mar 9, 2022)	criteria provided, single submitter
Select item 242406328.	NC_000002.11:g.(?_152470770)_(152471121_?)del GRCh37: Chr2:152470770-152471121	NEB		Nemaline myopathy 2	Uncertain significance (Aug 30, 2022)	criteria provided, single submitter
Select item 242406229.	NC_000002.11:g.(?_152475955)_(152476286_?)del GRCh37: Chr2:152475955-152476286	NEB		Nemaline myopathy 2	Pathogenic (Mar 2, 2022)	criteria provided, single submitter
Select item 242211730.	NM_001164508.2(NEB):c.21523-19C>G GRCh37: Chr2:152387634 GRCh38: Chr2:151531120	RIF1, NEB		Nemaline myopathy 2	Likely benign (Dec 30, 2021)	criteria provided, single submitter
Select item 242171631.	NM_001164508.2(NEB):c.9039T>C (p.Tyr3013=) GRCh37: Chr2:152492804 GRCh38: Chr2:151636290	NEB		Nemaline myopathy 2	Likely benign (Feb 6, 2022)	criteria provided, single submitter
Select item 242156932.	NM_001164508.2(NEB):c.5844C>T (p.Asn1948=) GRCh37: Chr2:152518775 GRCh38: Chr2:151662261	NEB		Nemaline myopathy 2	Likely benign (Aug 6, 2022)	criteria provided, single submitter
Select item 242129233.	NM_001164508.2(NEB):c.13762A>C (p.Arg4588=) GRCh37: Chr2:152456982 GRCh38: Chr2:151600468	NEB		Nemaline myopathy 2	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 242117934.	NM_001164508.2(NEB):c.24208-7_24208-6insTAA GRCh37: Chr2:152354238-152354239 GRCh38: Chr2:151497724-151497725	NEB, RIF1		Nemaline myopathy 2	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 242087435.	NM_001164508.2(NEB):c.23241+17G>A GRCh37: Chr2:152370077 GRCh38: Chr2:151513563	RIF1, NEB		Nemaline myopathy 2	Likely benign (Jan 8, 2022)	criteria provided, single submitter
Select item 242073336.	NM_001164508.2(NEB):c.13347C>T (p.Ile4449=) GRCh37: Chr2:152459122 GRCh38: Chr2:151602608	NEB		Nemaline myopathy 2	Likely benign (Jan 3, 2022)	criteria provided, single submitter
Select item 242072437.	NM_001164508.2(NEB):c.25298-16G>T GRCh37: Chr2:152346607 GRCh38: Chr2:151490093	RIF1, NEB		Nemaline myopathy 2	Uncertain significance (Apr 11, 2022)	criteria provided, single submitter
Select item 242065238.	NM_001164508.2(NEB):c.18517A>C (p.Thr6173Pro) GRCh37: Chr2:152420399 GRCh38: Chr2:151563885	NEB	T4472P, T6173P	Nemaline myopathy 2	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 242062639.	NM_001164508.2(NEB):c.2884G>A (p.Val962Met) GRCh37: Chr2:152539235 GRCh38: Chr2:151682721	NEB	V962M	Nemaline myopathy 2	Likely benign (May 22, 2022)	criteria provided, single submitter
Select item 242033340.	NM_001164508.2(NEB):c.20578-18A>G GRCh37: Chr2:152398083 GRCh38: Chr2:151541569	NEB		Nemaline myopathy 2	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 242028341.	NM_001164508.2(NEB):c.7076G>C (p.Ser2359Thr) GRCh37: Chr2:152507239 GRCh38: Chr2:151650725	NEB	S2359T	Nemaline myopathy 2	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 242003642.	NM_001164508.2(NEB):c.22940A>G (p.Lys7647Arg) GRCh37: Chr2:152371408 GRCh38: Chr2:151514894	RIF1, NEB	K5946R, K7647R, K7682R	Nemaline myopathy 2	Likely benign (Nov 3, 2022)	criteria provided, single submitter
Select item 241999043.	NM_001164508.2(NEB):c.7962G>T (p.Leu2654Phe) GRCh37: Chr2:152499862 GRCh38: Chr2:151643348	NEB	L2654F	not provided, Nemaline myopathy 2	Conflicting interpretations of pathogenicity (Sep 27, 2022)	criteria provided, conflicting interpretations
Select item 241997444.	NM_001164508.2(NEB):c.25212G>T (p.Gly8404=) GRCh37: Chr2:152346971 GRCh38: Chr2:151490457	NEB, RIF1		Nemaline myopathy 2	Benign (Oct 23, 2022)	criteria provided, single submitter
Select item 241977545.	NM_001164508.2(NEB):c.20044A>G (p.Ser6682Gly) GRCh37: Chr2:152406155 GRCh38: Chr2:151549641	NEB	S4981G, S6682G	Nemaline myopathy 2	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 241967246.	NM_001164508.2(NEB):c.6540C>T (p.Gly2180=) GRCh37: Chr2:152512493 GRCh38: Chr2:151655979	NEB		Nemaline myopathy 2	Likely benign (Mar 12, 2022)	criteria provided, single submitter
Select item 241958547.	NM_001164508.2(NEB):c.12402C>T (p.Asn4134=) GRCh37: Chr2:152465119 GRCh38: Chr2:151608605	NEB		Nemaline myopathy 2	Likely benign (Nov 2, 2022)	criteria provided, single submitter
Select item 241953248.	NM_001164508.2(NEB):c.1016C>T (p.Ala339Val) GRCh37: Chr2:152566189 GRCh38: Chr2:151709675	NEB	A339V	Nemaline myopathy 2	Uncertain significance (Mar 25, 2022)	criteria provided, single submitter
Select item 241892049.	NM_001164508.2(NEB):c.21860G>A (p.Arg7287Gln) GRCh37: Chr2:152383517 GRCh38: Chr2:151527003	NEB, RIF1	R5586Q, R7287Q, R7322Q	Nemaline myopathy 2	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 241879750.	NM_001164508.2(NEB):c.25404+14A>G GRCh37: Chr2:152346471 GRCh38: Chr2:151489957	NEB, RIF1		Nemaline myopathy 2	Likely benign (Oct 21, 2022)	criteria provided, single submitter
Select item 241870351.	NM_001164508.2(NEB):c.18106G>C (p.Asp6036His) GRCh37: Chr2:152423732 GRCh38: Chr2:151567218	NEB	D4335H, D6036H	Nemaline myopathy 2	Uncertain significance (Jun 30, 2022)	criteria provided, single submitter
Select item 241863552.	NM_001164508.2(NEB):c.5887C>T (p.His1963Tyr) GRCh37: Chr2:152518732 GRCh38: Chr2:151662218	NEB	H1963Y	Nemaline myopathy 2	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 241854953.	NM_001164508.2(NEB):c.24827C>A (p.Thr8276Asn) GRCh37: Chr2:152348947 GRCh38: Chr2:151492433	RIF1, NEB	T6420N, T8276N, T8311N	Nemaline myopathy 2	Likely benign (Jul 25, 2022)	criteria provided, single submitter
Select item 241813754.	NM_001164508.2(NEB):c.13500G>A (p.Glu4500=) GRCh37: Chr2:152457244 GRCh38: Chr2:151600730	NEB		Nemaline myopathy 2	Likely benign (Jul 1, 2022)	criteria provided, single submitter
Select item 241806355.	NM_001164508.2(NEB):c.72G>A (p.Pro24=) GRCh37: Chr2:152586135 GRCh38: Chr2:151729621	NEB		Nemaline myopathy 2	Likely benign (Jun 1, 2022)	criteria provided, single submitter
Select item 241756356.	NM_001164508.2(NEB):c.23105A>G (p.Asn7702Ser) GRCh37: Chr2:152370854 GRCh38: Chr2:151514340	RIF1, NEB	N6001S, N7702S, N7737S	Nemaline myopathy 2	Likely benign (Sep 9, 2022)	criteria provided, single submitter
Select item 241735857.	NM_001164508.2(NEB):c.20133G>C (p.Arg6711=) GRCh37: Chr2:152404846 GRCh38: Chr2:151548332	NEB		Nemaline myopathy 2	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 241735358.	NM_001164508.2(NEB):c.7523T>C (p.Ile2508Thr) GRCh37: Chr2:152502657 GRCh38: Chr2:151646143	NEB	I2508T	Nemaline myopathy 2	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 241724759.	NM_001164508.2(NEB):c.25386T>C (p.Ser8462=) GRCh37: Chr2:152346503 GRCh38: Chr2:151489989	NEB, RIF1		Nemaline myopathy 2	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 241697160.	NM_001164508.2(NEB):c.2709T>C (p.Thr903=) GRCh37: Chr2:152541418 GRCh38: Chr2:151684904	NEB		Nemaline myopathy 2	Likely benign (Jul 23, 2022)	criteria provided, single submitter
Select item 241653261.	NM_001164508.2(NEB):c.3474T>G (p.Asn1158Lys) GRCh37: Chr2:152534483 GRCh38: Chr2:151677969	NEB	N1158K	Nemaline myopathy 2	Uncertain significance (Aug 1, 2022)	criteria provided, single submitter
Select item 241561762.	NM_001164508.2(NEB):c.17169C>T (p.Thr5723=) GRCh37: Chr2:152426856 GRCh38: Chr2:151570342	NEB		Nemaline myopathy 2	Likely benign (Apr 20, 2022)	criteria provided, single submitter
Select item 241560163.	NM_001164508.2(NEB):c.23173C>G (p.Leu7725Val) GRCh37: Chr2:152370162 GRCh38: Chr2:151513648	RIF1, NEB	L6024V, L7725V, L7760V	Nemaline myopathy 2	Likely benign (Mar 3, 2022)	criteria provided, single submitter
Select item 241523464.	NM_001164508.2(NEB):c.1460A>T (p.Gln487Leu) GRCh37: Chr2:152553672 GRCh38: Chr2:151697158	NEB	Q487L	Nemaline myopathy 2	Likely benign (May 16, 2022)	criteria provided, single submitter
Select item 241502665.	NM_001164508.2(NEB):c.22092C>G (p.Gly7364=) GRCh37: Chr2:152382541 GRCh38: Chr2:151526027	NEB, RIF1		Nemaline myopathy 2	Likely benign (Aug 4, 2022)	criteria provided, single submitter
Select item 241490866.	NM_001164508.2(NEB):c.3616A>G (p.Ile1206Val) GRCh37: Chr2:152534237 GRCh38: Chr2:151677723	NEB	I1206V	Nemaline myopathy 2	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 241462167.	NM_001164508.2(NEB):c.738C>G (p.Leu246=) GRCh37: Chr2:152574014 GRCh38: Chr2:151717500	NEB		Nemaline myopathy 2	Likely benign (Oct 29, 2022)	criteria provided, single submitter
Select item 241418168.	NM_001164508.2(NEB):c.12915G>A (p.Leu4305=) GRCh37: Chr2:152461218 GRCh38: Chr2:151604704	NEB		Nemaline myopathy 2	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 241311569.	NM_001164508.2(NEB):c.11969A>C (p.Asp3990Ala) GRCh37: Chr2:152467079 GRCh38: Chr2:151610565	NEB	D3747A, D3990A	Nemaline myopathy 2	Likely pathogenic (Jan 20, 2023)	no assertion criteria provided
Select item 241277070.	NM_001164508.2(NEB):c.8697del (p.Lys2899fs) GRCh37: Chr2:152496563 GRCh38: Chr2:151640049	NEB	K2899fs	Nemaline myopathy 2	Likely pathogenic (Jan 25, 2023)	criteria provided, single submitter
Select item 241276971.	NM_001164508.2(NEB):c.20719del (p.His6907fs) GRCh37: Chr2:152397279 GRCh38: Chr2:151540765	NEB	H5206fs, H6907fs	Nemaline myopathy 2	Pathogenic (Jan 25, 2023)	criteria provided, single submitter
Select item 241268572.	NM_001164508.2(NEB):c.20122G>A (p.Val6708Ile) GRCh37: Chr2:152404857 GRCh38: Chr2:151548343	NEB	V6708I, V5007I	Nemaline myopathy 2	Uncertain significance (Jan 25, 2023)	criteria provided, single submitter
Select item 240504673.	NM_001164508.2(NEB):c.8090T>C (p.Phe2697Ser) GRCh37: Chr2:152499734 GRCh38: Chr2:151643220	NEB	F2697S	Inborn genetic diseases, Nemaline myopathy 2	Conflicting interpretations of pathogenicity (Oct 28, 2022)	criteria provided, conflicting interpretations
Select item 220368074.	NM_001164508.2(NEB):c.5186T>C (p.Met1729Thr) GRCh37: Chr2:152521899 GRCh38: Chr2:151665385	NEB	M1729T	Nemaline myopathy 2	Likely benign (Jul 7, 2022)	criteria provided, single submitter
Select item 220361375.	NM_001164508.2(NEB):c.1949G>A (p.Cys650Tyr) GRCh37: Chr2:152548824 GRCh38: Chr2:151692310	NEB	C650Y	Nemaline myopathy 2	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 220361276.	NM_001164508.2(NEB):c.9488A>G (p.Lys3163Arg) GRCh37: Chr2:152487787 GRCh38: Chr2:151631273	NEB	K3163R	not provided, Nemaline myopathy 2	Uncertain significance (Jul 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 220353277.	NM_001164508.2(NEB):c.3817A>G (p.Thr1273Ala) GRCh37: Chr2:152531863 GRCh38: Chr2:151675349	NEB	T1273A	not provided, Nemaline myopathy 2	Conflicting interpretations of pathogenicity (Nov 3, 2022)	criteria provided, conflicting interpretations
Select item 220315978.	NM_001164508.2(NEB):c.20253del (p.Val6752fs) GRCh37: Chr2:152404157 GRCh38: Chr2:151547643	NEB	V5051fs, V6752fs	Nemaline myopathy 2	Pathogenic (May 2, 2022)	criteria provided, single submitter
Select item 220315879.	NM_001164508.2(NEB):c.20928G>T (p.Gly6976=) GRCh37: Chr2:152394723 GRCh38: Chr2:151538209	NEB		Nemaline myopathy 2	Uncertain significance (Jun 19, 2022)	criteria provided, single submitter
Select item 220255880.	NM_001164508.2(NEB):c.25228G>A (p.Glu8410Lys) GRCh37: Chr2:152346955 GRCh38: Chr2:151490441	RIF1, NEB	E8410K, E8445K, E6554K	Nemaline myopathy 2	Likely benign (Sep 3, 2022)	criteria provided, single submitter
Select item 220253681.	NM_001164508.2(NEB):c.25565T>C (p.Val8522Ala) GRCh37: Chr2:152342287 GRCh38: Chr2:151485773	RIF1, NEB	V8557A, V6666A, V8522A	Nemaline myopathy 2, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Feb 6, 2023)	criteria provided, conflicting interpretations
Select item 220245982.	NM_001164508.2(NEB):c.1482A>C (p.Lys494Asn) GRCh37: Chr2:152553238 GRCh38: Chr2:151696724	NEB	K494N	Nemaline myopathy 2	Likely benign (Oct 14, 2022)	criteria provided, single submitter
Select item 220234483.	NM_001164508.2(NEB):c.4185G>A (p.Met1395Ile) GRCh37: Chr2:152528997 GRCh38: Chr2:151672483	NEB	M1395I	Nemaline myopathy 2, not provided	Uncertain significance (Sep 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 220234384.	NM_001164508.2(NEB):c.9077A>G (p.Lys3026Arg) GRCh37: Chr2:152492766 GRCh38: Chr2:151636252	NEB	K3026R	Nemaline myopathy 2, not provided	Uncertain significance (Sep 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 220217185.	NM_001164508.2(NEB):c.20365G>A (p.Asp6789Asn) GRCh37: Chr2:152403945 GRCh38: Chr2:151547431	NEB	D5088N, D6789N	Nemaline myopathy 2, not provided	Conflicting interpretations of pathogenicity (Oct 18, 2022)	criteria provided, conflicting interpretations
Select item 220216986.	NM_001164508.2(NEB):c.24765+11G>A GRCh37: Chr2:152349856 GRCh38: Chr2:151493342	RIF1, NEB		Nemaline myopathy 2	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 220216487.	NM_001164508.2(NEB):c.9542A>G (p.Asp3181Gly) GRCh37: Chr2:152487733 GRCh38: Chr2:151631219	NEB	D3181G	Nemaline myopathy 2	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 220188688.	NM_001164508.2(NEB):c.1257+3A>G GRCh37: Chr2:152554055 GRCh38: Chr2:151697541	NEB		Nemaline myopathy 2	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 220183889.	NM_001164508.2(NEB):c.22134C>T (p.Val7378=) GRCh37: Chr2:152382499 GRCh38: Chr2:151525985	NEB, RIF1		Nemaline myopathy 2	Benign (Apr 18, 2022)	criteria provided, single submitter
Select item 220182290.	NM_001164508.2(NEB):c.4384A>G (p.Lys1462Glu) GRCh37: Chr2:152527659 GRCh38: Chr2:151671145	NEB	K1462E	Nemaline myopathy 2, not provided	Conflicting interpretations of pathogenicity (May 13, 2022)	criteria provided, conflicting interpretations
Select item 220170591.	NM_001164508.2(NEB):c.10981A>T (p.Ile3661Phe) GRCh37: Chr2:152474884 GRCh38: Chr2:151618370	NEB	I3661F, I3418F	Nemaline myopathy 2	Likely benign (May 5, 2022)	criteria provided, single submitter
Select item 220163192.	NM_001164508.2(NEB):c.6702+11C>T GRCh37: Chr2:152512320 GRCh38: Chr2:151655806	NEB		Nemaline myopathy 2	Likely benign (Jan 20, 2022)	criteria provided, single submitter
Select item 220159493.	NM_001164508.2(NEB):c.2384A>G (p.Gln795Arg) GRCh37: Chr2:152544837 GRCh38: Chr2:151688323	NEB	Q795R	Nemaline myopathy 2	Uncertain significance (May 11, 2022)	criteria provided, single submitter
Select item 220109394.	NM_001164508.2(NEB):c.1152+15G>A GRCh37: Chr2:152563380 GRCh38: Chr2:151706866	NEB		Nemaline myopathy 2	Uncertain significance (Sep 19, 2022)	criteria provided, single submitter
Select item 220099195.	NM_001164508.2(NEB):c.940G>A (p.Glu314Lys) GRCh37: Chr2:152566265 GRCh38: Chr2:151709751	NEB	E314K	Nemaline myopathy 2	Likely benign (May 1, 2022)	criteria provided, single submitter
Select item 220088396.	NM_001164508.2(NEB):c.6754C>T (p.Pro2252Ser) GRCh37: Chr2:152511837 GRCh38: Chr2:151655323	NEB	P2252S	Nemaline myopathy 2, not provided	Conflicting interpretations of pathogenicity (Sep 12, 2022)	criteria provided, conflicting interpretations
Select item 220074797.	NM_001164507.2(NEB):c.21397G>A (p.Ala7133Thr) GRCh37: Chr2:152390749 GRCh38: Chr2:151534235	RIF1, NEB	A5432T, A7133T	Inborn genetic diseases, Nemaline myopathy 2	Conflicting interpretations of pathogenicity (Oct 26, 2022)	criteria provided, conflicting interpretations
Select item 220035998.	NM_001164508.2(NEB):c.10044C>T (p.Val3348=) GRCh37: Chr2:152484136 GRCh38: Chr2:151627622	NEB		Nemaline myopathy 2	Likely benign (Apr 21, 2022)	criteria provided, single submitter
Select item 220026599.	NM_001164508.2(NEB):c.20083G>C (p.Ala6695Pro) GRCh37: Chr2:152404896 GRCh38: Chr2:151548382	NEB	A4994P, A6695P	Nemaline myopathy 2	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 2200195100.	NM_001164508.2(NEB):c.5506A>G (p.Ser1836Gly) GRCh37: Chr2:152520319 GRCh38: Chr2:151663805	NEB	S1836G	Nemaline myopathy 2	Likely benign (Sep 14, 2022)	criteria provided, single submitter

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