ClinVar for MedGen (Select 61528) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25828261.	NM_001100.4(ACTA1):c.772C>G (p.Arg258Gly) GRCh37: Chr1:229567777 GRCh38: Chr1:229432030	ACTA1	R258G	Congenital myopathy, Nemaline myopathy	Likely pathogenic (Dec 14, 2020)	criteria provided, single submitter
Select item 25828242.	NM_001100.4(ACTA1):c.1125A>C (p.Lys375Asn) GRCh37: Chr1:229567255 GRCh38: Chr1:229431508	ACTA1	K375N	Nemaline myopathy	Likely pathogenic (Jun 9, 2009)	criteria provided, single submitter
Select item 25828223.	NM_001100.4(ACTA1):c.130-5T>A GRCh37: Chr1:229568632 GRCh38: Chr1:229432885	ACTA1		Nemaline myopathy	Uncertain significance (Oct 9, 2022)	criteria provided, single submitter
Select item 25828094.	NM_001100.4(ACTA1):c.443G>T (p.Gly148Val) GRCh37: Chr1:229568314 GRCh38: Chr1:229432567	ACTA1	G148V	Nemaline myopathy, Centronuclear myopathy	Likely pathogenic (Jul 13, 2020)	criteria provided, single submitter
Select item 25828065.	NM_001100.4(ACTA1):c.868G>A (p.Asp290Asn) GRCh37: Chr1:229567590 GRCh38: Chr1:229431843	ACTA1	D290N	Nemaline myopathy	Pathogenic (Jun 9, 2009)	criteria provided, single submitter
Select item 25820366.	NM_001100.4(ACTA1):c.175G>A (p.Glu59Lys) GRCh37: Chr1:229568582 GRCh38: Chr1:229432835	ACTA1	E59K	Nemaline myopathy, not provided	Conflicting interpretations of pathogenicity (Mar 27, 2023)	criteria provided, conflicting interpretations
Select item 25815237.	NM_001164508.2(NEB):c.14827-2A>C GRCh37: Chr2:152447971 GRCh38: Chr2:151591457	NEB		Nemaline myopathy	Likely pathogenic (Aug 7, 2023)	criteria provided, single submitter
Select item 25813368.	NM_001164508.2(NEB):c.2310+5G>A GRCh37: Chr2:152547236 GRCh38: Chr2:151690722	NEB		Nemaline myopathy	Likely pathogenic (Aug 24, 2023)	criteria provided, single submitter
Select item 25039699.	NM_001164508.2(NEB):c.19519A>T (p.Lys6507Ter) GRCh37: Chr2:152410449 GRCh38: Chr2:151553935	LOC126806373, NEB	K4806, K6507	Nemaline myopathy	Likely pathogenic (Apr 4, 2023)	criteria provided, single submitter
Select item 250111610.	NM_001164508.2(NEB):c.1035+1G>A GRCh37: Chr2:152566169 GRCh38: Chr2:151709655	NEB		Nemaline myopathy	Likely pathogenic (Mar 6, 2023)	criteria provided, single submitter
Select item 187821411.	NM_001164508.2(NEB):c.2079C>A (p.Cys693Ter) GRCh37: Chr2:152548600 GRCh38: Chr2:151692086	NEB	C693*	Nemaline myopathy, Nemaline myopathy 2	Conflicting interpretations of pathogenicity (Jan 25, 2023)	criteria provided, conflicting interpretations
Select item 180472412.	NM_001164508.2(NEB):c.10438_10442del (p.Ile3480fs) GRCh37: Chr2:152482058-152482062 GRCh38: Chr2:151625544-151625548	NEB	I3237fs, I3480fs	Nemaline myopathy	Likely pathogenic (Nov 29, 2022)	criteria provided, single submitter
Select item 172344213.	NC_000002.11:g.(152501090_152502643)_(152502749_152506689)del GRCh37: Chr2:152501090-152506689	NEB		Nemaline myopathy	Pathogenic (Oct 4, 2022)	criteria provided, single submitter
Select item 172343514.	NC_000002.11:g.(152465191_152466322)_(152563512_152566169)del GRCh37: Chr2:152465191-152566169	NEB		Nemaline myopathy	Likely pathogenic (Oct 31, 2022)	criteria provided, single submitter
Select item 172334915.	NM_001164508.2(NEB):c.7665del (p.Arg2556fs) GRCh37: Chr2:152500623 GRCh38: Chr2:151644109	NEB	R2556fs	Nemaline myopathy	Likely pathogenic (Oct 19, 2022)	criteria provided, single submitter
Select item 169618716.	NM_001164508.2(NEB):c.24911_24914dup (p.Phe8305fs) GRCh37: Chr2:152348754-152348755 GRCh38: Chr2:151492240-151492241	NEB, RIF1	F6449fs, F8305fs, F8340fs	Nemaline myopathy	Likely pathogenic (May 17, 2022)	criteria provided, single submitter
Select item 143070417.	NM_001164508.2(NEB):c.24089_24092dup (p.His8031fs) GRCh37: Chr2:152355833-152355834 GRCh38: Chr2:151499319-151499320	NEB, RIF1	H8031fs, H8066fs	Nemaline myopathy, Nemaline myopathy 2	Pathogenic (Aug 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 133968518.	NM_001164508.2(NEB):c.23628_23631del (p.Gln7876fs) GRCh37: Chr2:152362698-152362701 GRCh38: Chr2:151506184-151506187	NEB, RIF1	Q6175fs, Q7876fs, Q7911fs	Nemaline myopathy, Nemaline myopathy 2	Pathogenic/Likely pathogenic (Jan 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133966419.	NM_001164508.2(NEB):c.20975_20976del (p.Lys6992fs) GRCh37: Chr2:152394675-152394676 GRCh38: Chr2:151538161-151538162	NEB	K5291fs, K6992fs	Nemaline myopathy	Likely pathogenic (Jan 9, 2022)	criteria provided, single submitter
Select item 129959420.	NM_001164508.2(NEB):c.16704+1G>A GRCh37: Chr2:152435851 GRCh38: Chr2:151579337	NEB		Nemaline myopathy 2, Nemaline myopathy, not provided	Conflicting interpretations of pathogenicity (Jul 27, 2023)	criteria provided, conflicting interpretations
Select item 107106821.	NM_001164508.2(NEB):c.19156G>T (p.Glu6386Ter) GRCh37: Chr2:152417568 GRCh38: Chr2:151561054	NEB	E4685, E6386	Nemaline myopathy 2, Nemaline myopathy	Pathogenic/Likely pathogenic (Jul 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106671522.	NM_001164508.2(NEB):c.18472-1G>C GRCh37: Chr2:152420445 GRCh38: Chr2:151563931	NEB		Arthrogryposis multiplex congenita 6, Nemaline myopathy 2, Nemaline myopathy 2, Nemaline myopathy	Likely pathogenic (Oct 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97495723.	NM_001164508.2(NEB):c.1152+1G>T GRCh37: Chr2:152563394 GRCh38: Chr2:151706880	NEB		Nemaline myopathy, Nemaline myopathy 2	Pathogenic (Aug 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 94265924.	NM_001164508.2(NEB):c.3473_3488del (p.Asn1158fs) GRCh37: Chr2:152534469-152534484 GRCh38: Chr2:151677955-151677970	NEB	N1158fs	Nemaline myopathy, not provided, Nemaline myopathy 2	Pathogenic (Aug 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 92915225.	NM_001164508.2(NEB):c.21141del (p.Ile7047fs) GRCh37: Chr2:152393712 GRCh38: Chr2:151537198	NEB	I5346fs, I7047fs	Nemaline myopathy	Likely pathogenic (May 8, 2019)	criteria provided, single submitter
Select item 92863726.	NM_001164508.2(NEB):c.18918G>A (p.Trp6306Ter) GRCh37: Chr2:152418702 GRCh38: Chr2:151562188	NEB	W4605, W6306	Nemaline myopathy	Likely pathogenic (Aug 15, 2019)	criteria provided, single submitter
Select item 91815727.	NM_001164508.2(NEB):c.22831C>T (p.Arg7611Ter) GRCh37: Chr2:152373047 GRCh38: Chr2:151516533	RIF1, NEB	R5910, R7646, R7611*	Nemaline myopathy, not provided, Nemaline myopathy 2	Pathogenic (Oct 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91756228.	NM_001164508.2(NEB):c.18024_18027del (p.Val6009fs) GRCh37: Chr2:152423811-152423814 GRCh38: Chr2:151567297-151567300	NEB	V4308fs, V6009fs	not provided, Nemaline myopathy, Nemaline myopathy 2	Pathogenic/Likely pathogenic (Oct 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 84170929.	NM_001164508.2(NEB):c.17118+1G>A GRCh37: Chr2:152427010 GRCh38: Chr2:151570496	NEB		Nemaline myopathy 2, Arthrogryposis multiplex congenita 6, not provided, Nemaline myopathy, Nemaline myopathy 2	Pathogenic (Aug 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 81683730.	NM_001164508.2(NEB):c.24988C>T (p.Arg8330Ter) GRCh37: Chr2:152348681 GRCh38: Chr2:151492167	RIF1, NEB	R6474, R8365, R8330*	Nemaline myopathy, Nemaline myopathy 2, Nemaline myopathy 2, Arthrogryposis multiplex congenita 6, not provided	Pathogenic (Jan 4, 2023)	criteria provided, multiple submitters, no conflicts
Select item 80176431.	NM_001164508.2(NEB):c.23140C>T (p.Arg7714Ter) GRCh37: Chr2:152370195 GRCh38: Chr2:151513681	RIF1, NEB	R7714, R6013, R7749*	Nemaline myopathy, Nemaline myopathy 2	Pathogenic/Likely pathogenic (Aug 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 69198632.	NM_001164508.2(NEB):c.19626+1G>A GRCh37: Chr2:152410341 GRCh38: Chr2:151553827	LOC126806373, NEB		Nemaline myopathy 2, Nemaline myopathy	Likely pathogenic (Jul 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63333433.	NM_001164508.2(NEB):c.25136T>G (p.Leu8379Ter) GRCh37: Chr2:152348211 GRCh38: Chr2:151491697	RIF1, NEB	L8414, L8379, L6523*	Nemaline myopathy, Nemaline myopathy 2	Pathogenic (Sep 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63333334.	NM_001164508.2(NEB):c.24302_24305dup (p.Leu8102fs) GRCh37: Chr2:152353542-152353543 GRCh38: Chr2:151497028-151497029	NEB, RIF1	L8102fs, L8137fs	not provided, Nemaline myopathy, Nemaline myopathy 2	Pathogenic/Likely pathogenic (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63292435.	NM_001164508.2(NEB):c.734del (p.Gly245fs) GRCh37: Chr2:152574018 GRCh38: Chr2:151717504	NEB	G245fs	Nemaline myopathy	Likely pathogenic (Aug 25, 2020)	criteria provided, single submitter
Select item 63292236.	NM_001164508.2(NEB):c.3252_3255+3del GRCh37: Chr2:152536232-152536238 GRCh38: Chr2:151679718-151679724	NEB		Nemaline myopathy, Nemaline myopathy 2	Likely pathogenic (Aug 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63292137.	NM_001164508.2(NEB):c.21793C>T (p.Arg7265Ter) GRCh37: Chr2:152384042 GRCh38: Chr2:151527528	NEB, RIF1	R7300, R5564, R7265*	Nemaline myopathy, Nemaline myopathy 2	Pathogenic/Likely pathogenic (Nov 8, 2021)	criteria provided, multiple submitters, no conflicts
Select item 63292038.	NM_001164508.2(NEB):c.20554G>T (p.Glu6852Ter) GRCh37: Chr2:152402425 GRCh38: Chr2:151545911	NEB	E6852, E5151	Nemaline myopathy, Nemaline myopathy 2, not provided	Pathogenic/Likely pathogenic (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 57820939.	NM_001164508.2(NEB):c.22170C>G (p.Tyr7390Ter) GRCh37: Chr2:152381779 GRCh38: Chr2:151525265	NEB, RIF1	Y7425, Y5689, Y7390*	Nemaline myopathy, Nemaline myopathy 2, Nemaline myopathy 2, Arthrogryposis multiplex congenita 6	Pathogenic/Likely pathogenic (Jan 25, 2023)	criteria provided, multiple submitters, no conflicts
Select item 57505440.	NM_001164508.2(NEB):c.1623del (p.Asp542fs) GRCh37: Chr2:152552143 GRCh38: Chr2:151695629	NEB	D542fs	Nemaline myopathy, Nemaline myopathy 2	Pathogenic (Sep 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55806941.	NM_001164508.2(NEB):c.24267_24270dup (p.Val8091fs) GRCh37: Chr2:152354169-152354170 GRCh38: Chr2:151497655-151497656	NEB, RIF1	V8126fs, V8091fs	Nemaline myopathy, Nemaline myopathy 2	Pathogenic (Aug 23, 2019)	criteria provided, multiple submitters, no conflicts
Select item 55788842.	NM_001164508.2(NEB):c.20659C>T (p.Arg6887Ter) GRCh37: Chr2:152397984 GRCh38: Chr2:151541470	NEB	R6887, R5186	not provided, Nemaline myopathy 2, Inborn genetic diseases, Nemaline myopathy	Pathogenic/Likely pathogenic (Aug 29, 2023)	criteria provided, multiple submitters, no conflicts
Select item 55750543.	NM_001164508.2(NEB):c.18676C>T (p.Gln6226Ter) GRCh37: Chr2:152420137 GRCh38: Chr2:151563623	NEB	Q6226, Q4525	Nemaline myopathy 2, Nemaline myopathy 2, Arthrogryposis multiplex congenita 6, Nemaline myopathy	Pathogenic (Mar 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 55731344.	NM_001164508.2(NEB):c.20787+2T>C GRCh37: Chr2:152397209 GRCh38: Chr2:151540695	NEB		Nemaline myopathy 2, Nemaline myopathy	Likely pathogenic (Sep 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55665045.	NM_001164508.2(NEB):c.22489C>T (p.Arg7497Ter) GRCh37: Chr2:152376273 GRCh38: Chr2:151519759	NEB, RIF1	R7532, R7497, R5796*	not provided, Nemaline myopathy 2, Nemaline myopathy	Pathogenic/Likely pathogenic (May 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 55470546.	NM_001164508.2(NEB):c.3879+1G>A GRCh37: Chr2:152531800 GRCh38: Chr2:151675286	NEB		Nemaline myopathy, not provided, Nemaline myopathy 2	Pathogenic/Likely pathogenic (Oct 12, 2023)	criteria provided, multiple submitters, no conflicts
Select item 55427547.	NM_001164508.2(NEB):c.20577+2T>C GRCh37: Chr2:152402400 GRCh38: Chr2:151545886	NEB		Nemaline myopathy, Nemaline myopathy 2	Likely pathogenic (May 30, 2023)	criteria provided, multiple submitters, no conflicts
Select item 55234048.	NM_001164508.2(NEB):c.25297+1G>A GRCh37: Chr2:152346885 GRCh38: Chr2:151490371	NEB, RIF1		Arthrogryposis multiplex congenita 6, Nemaline myopathy 2, Nemaline myopathy 2, Nemaline myopathy	Likely pathogenic (Sep 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55210849.	NM_001164508.2(NEB):c.24549_24550del (p.Arg8183fs) GRCh37: Chr2:152350704-152350705 GRCh38: Chr2:151494190-151494191	NEB, RIF1	R6327fs, R8218fs, R8183fs	Nemaline myopathy, Nemaline myopathy 2	Pathogenic (Oct 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55204250.	NM_001164508.2(NEB):c.6937C>T (p.Arg2313Ter) GRCh37: Chr2:152507378 GRCh38: Chr2:151650864	NEB	R2313*	Nemaline myopathy, Nemaline myopathy 2, NEB-related condition	Pathogenic/Likely pathogenic (Feb 27, 2023)	criteria provided, multiple submitters, no conflicts
Select item 55203551.	NM_001164508.2(NEB):c.3255+1G>T GRCh37: Chr2:152536234 GRCh38: Chr2:151679720	NEB		not provided, Nemaline myopathy, Nemaline myopathy 2	Pathogenic/Likely pathogenic (Jun 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55201852.	NM_001164508.2(NEB):c.78+1G>A GRCh37: Chr2:152586128 GRCh38: Chr2:151729614	NEB		not provided, Nemaline myopathy, Nemaline myopathy 2	Pathogenic (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55189953.	NM_001164508.2(NEB):c.2943+1G>A GRCh37: Chr2:152539175 GRCh38: Chr2:151682661	NEB		Nemaline myopathy, Nemaline myopathy 2	Pathogenic (Oct 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55188254.	NM_001164508.2(NEB):c.24353_24356dup (p.Met8119fs) GRCh37: Chr2:152353491-152353492 GRCh38: Chr2:151496977-151496978	NEB, RIF1	M8119fs, M8154fs	Nemaline myopathy 2, Nemaline myopathy	Pathogenic/Likely pathogenic (Mar 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55174655.	NM_001164508.2(NEB):c.7647C>G (p.Tyr2549Ter) GRCh37: Chr2:152500641 GRCh38: Chr2:151644127	NEB	Y2549*	Nemaline myopathy 2, Nemaline myopathy	Pathogenic/Likely pathogenic (Nov 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55152756.	NM_001164508.2(NEB):c.4337G>T (p.Gly1446Val) GRCh37: Chr2:152527706 GRCh38: Chr2:151671192	NEB	G1446V	Nemaline myopathy 2, Nemaline myopathy	Conflicting interpretations of pathogenicity (Aug 16, 2023)	criteria provided, conflicting interpretations
Select item 55077557.	NM_001164508.2(NEB):c.24177_24178del (p.Arg8059fs) GRCh37: Chr2:152354803-152354804 GRCh38: Chr2:151498289-151498290	NEB, RIF1	R8094fs, R8059fs	Nemaline myopathy, not provided, Nemaline myopathy 2	Pathogenic/Likely pathogenic (Jul 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55032258.	NM_001164508.2(NEB):c.9465del (p.Ile3156fs) GRCh37: Chr2:152487810 GRCh38: Chr2:151631296	NEB	I3156fs	Nemaline myopathy, not provided, Nemaline myopathy 2	Pathogenic/Likely pathogenic (Mar 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 53399459.	NM_001164508.2(NEB):c.24189_24192dup (p.Glu8065fs) GRCh37: Chr2:152354788-152354789 GRCh38: Chr2:151498274-151498275	RIF1, NEB	E8100fs, E8065fs	Nemaline myopathy, not provided, Nemaline myopathy 2, See cases	Pathogenic (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 53396860.	NM_001164508.2(NEB):c.24339_24342del (p.Pro8114fs) GRCh37: Chr2:152353506-152353509 GRCh38: Chr2:151496992-151496995	NEB, RIF1	P8114fs, P8149fs	Arthrogryposis multiplex congenita 6, Nemaline myopathy 2, Nemaline myopathy 2, Nemaline myopathy	Pathogenic/Likely pathogenic (Apr 3, 2023)	criteria provided, multiple submitters, no conflicts
Select item 52069361.	NM_001164508.2(NEB):c.1849del (p.Asp617fs) GRCh37: Chr2:152550884 GRCh38: Chr2:151694370	NEB	D617fs	Inborn genetic diseases, Nemaline myopathy	Pathogenic/Likely pathogenic (Jun 12, 2018)	criteria provided, multiple submitters, no conflicts
Select item 49613562.	NM_001164508.2(NEB):c.24454C>T (p.Arg8152Ter) GRCh37: Chr2:152352822 GRCh38: Chr2:151496308	NEB, RIF1	R8187, R6296, R8152*	Nemaline myopathy 2, Arthrogryposis multiplex congenita 6, Nemaline myopathy, Nemaline myopathy 2, not provided	Pathogenic/Likely pathogenic (Dec 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 49613463.	NM_001164508.2(NEB):c.24113C>A (p.Ser8038Ter) GRCh37: Chr2:152355813 GRCh38: Chr2:151499299	NEB, RIF1	S8073, S8038	Nemaline myopathy, not provided, Nemaline myopathy 2	Pathogenic/Likely pathogenic (Aug 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 49613264.	NM_001164508.2(NEB):c.19097G>T (p.Ser6366Ile) GRCh37: Chr2:152417726 GRCh38: Chr2:151561212	NEB	S6366I, S4665I	Nemaline myopathy, Nemaline myopathy 2	Pathogenic (Aug 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 49613165.	NM_001164508.2(NEB):c.11164C>T (p.Arg3722Ter) GRCh37: Chr2:152473895 GRCh38: Chr2:151617381	NEB	R3722, R3479	Nemaline myopathy 2, Arthrogryposis multiplex congenita 6, not provided, Nemaline myopathy	Pathogenic/Likely pathogenic (Sep 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 46561866.	NM_001164508.2(NEB):c.5722del (p.Ser1908fs) GRCh37: Chr2:152520103 GRCh38: Chr2:151663589	NEB	S1908fs	Nemaline myopathy, Nemaline myopathy 2, not provided	Pathogenic/Likely pathogenic (Jul 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 46558967.	NM_001164508.2(NEB):c.25214del (p.Gly8405fs) GRCh37: Chr2:152346969 GRCh38: Chr2:151490455	NEB, RIF1	G8440fs, G8405fs, G6549fs	Nemaline myopathy, Nemaline myopathy 2	Conflicting interpretations of pathogenicity (Jan 10, 2023)	criteria provided, conflicting interpretations
Select item 46557968.	NM_001164508.2(NEB):c.24209_24212dup (p.Leu8071fs) GRCh37: Chr2:152354227-152354228 GRCh38: Chr2:151497713-151497714	RIF1, NEB	L8106fs, L8071fs	Nemaline myopathy, not provided, Nemaline myopathy 2	Pathogenic (Jun 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 45105269.	NM_001164508.2(NEB):c.22590+2T>C GRCh37: Chr2:152376170 GRCh38: Chr2:151519656	RIF1, NEB		Nemaline myopathy 2, Nemaline myopathy, not provided	Conflicting interpretations of pathogenicity (Feb 27, 2023)	criteria provided, conflicting interpretations
Select item 44950270.	NM_001164508.2(NEB):c.3255+1G>A GRCh37: Chr2:152536234 GRCh38: Chr2:151679720	NEB		not provided, Nemaline myopathy 2, Nemaline myopathy	Pathogenic (Aug 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 44950071.	NM_001164508.2(NEB):c.25336C>T (p.Arg8446Ter) GRCh37: Chr2:152346553 GRCh38: Chr2:151490039	NEB, RIF1	R8481, R6590, R8446*	not provided, Nemaline myopathy, Nemaline myopathy 2	Pathogenic (Sep 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 44096372.	NM_001164508.2(NEB):c.22159G>C (p.Asp7387His) GRCh37: Chr2:152382474 GRCh38: Chr2:151525960	RIF1, NEB	D7422H, D7387H, D5686H	Nemaline myopathy 2, not provided	Uncertain significance (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43596473.	NM_001164508.2(NEB):c.11333T>C (p.Ile3778Thr) GRCh37: Chr2:152471058 GRCh38: Chr2:151614544	NEB	I3535T, I3778T	Nemaline myopathy, Nemaline myopathy 2, not specified, not provided	Conflicting interpretations of pathogenicity (Nov 2, 2022)	criteria provided, conflicting interpretations
Select item 42012574.	NM_001164508.2(NEB):c.2415+1G>A GRCh37: Chr2:152544805 GRCh38: Chr2:151688291	NEB		not provided, Nemaline myopathy, Nemaline myopathy 2	Pathogenic/Likely pathogenic (May 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37397775.	NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter) GRCh37: Chr2:152357937 GRCh38: Chr2:151501423	NEB, RIF1	R8032, R7997	Nemaline myopathy 2, Muscular dystrophy, Progressive proximal muscle weakness, Limb pain, NEB-related condition, Nemaline myopathy, not provided, Nemaline myopathy 2, Arthrogryposis multiplex congenita 6	Pathogenic/Likely pathogenic (Nov 10, 2023)	criteria provided, multiple submitters, no conflicts
Select item 37121076.	NM_001164508.2(NEB):c.3987+1G>A GRCh37: Chr2:152530990 GRCh38: Chr2:151674476	NEB		Nemaline myopathy 2, Nemaline myopathy, not provided	Pathogenic/Likely pathogenic (May 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37108777.	NM_001164508.2(NEB):c.7228-1G>A GRCh37: Chr2:152506894 GRCh38: Chr2:151650380	NEB		Nemaline myopathy 2, Nemaline myopathy	Pathogenic/Likely pathogenic (May 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 29606178.	NM_001100.4(ACTA1):c.-66_-65delinsTC GRCh37: Chr1:229569803-229569804 GRCh38: Chr1:229434056-229434057	ACTA1, LOC122152321		Familial restrictive cardiomyopathy, Nemaline myopathy, Congenital myopathy with fiber type disproportion	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 29605579.	NM_001100.4(ACTA1):c.809-16_809-15insG GRCh37: Chr1:229567664-229567665 GRCh38: Chr1:229431917-229431918	ACTA1		Familial restrictive cardiomyopathy, Nemaline myopathy, Congenital myopathy with fiber type disproportion	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 29605480.	NM_001100.4(ACTA1):c.809-14_809-13insA GRCh37: Chr1:229567662-229567663 GRCh38: Chr1:229431915-229431916	ACTA1		Familial restrictive cardiomyopathy, Nemaline myopathy, Congenital myopathy with fiber type disproportion, Actin accumulation myopathy	Conflicting interpretations of pathogenicity (Mar 26, 2022)	criteria provided, conflicting interpretations
Select item 29605381.	NM_001100.4(ACTA1):c.809-13_809-12dup GRCh37: Chr1:229567660-229567661 GRCh38: Chr1:229431913-229431914	ACTA1		Familial restrictive cardiomyopathy, Nemaline myopathy, Congenital myopathy with fiber type disproportion, Actin accumulation myopathy	Conflicting interpretations of pathogenicity (Jun 22, 2022)	criteria provided, conflicting interpretations
Select item 29268982.	NM_152263.4(TPM3):c.*389G>A GRCh37: Chr1:154140024 GRCh38: Chr1:154167548	TPM3		not provided, Nemaline myopathy, Congenital myopathy with fiber type disproportion	Benign/Likely benign (Sep 16, 2021)	criteria provided, multiple submitters, no conflicts
Select item 29268283.	NM_152263.4(TPM3):c.*1032T>G GRCh37: Chr1:154139381 GRCh38: Chr1:154166905	TPM3		Nemaline myopathy, Congenital myopathy with fiber type disproportion	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 29267884.	NM_152263.4(TPM3):c.1246_1247dup GRCh37: Chr1:154139165-154139166 GRCh38: Chr1:154166689-154166690	TPM3		Nemaline myopathy, Congenital myopathy with fiber type disproportion	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 29267785.	NM_152263.4(TPM3):c.*1247dup GRCh37: Chr1:154139165-154139166 GRCh38: Chr1:154166689-154166690	TPM3		Nemaline myopathy, Congenital myopathy with fiber type disproportion	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 29266986.	NM_152263.4(TPM3):c.*2130del GRCh37: Chr1:154138283 GRCh38: Chr1:154165807	TPM3		Nemaline myopathy, Congenital myopathy with fiber type disproportion	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 29266787.	NM_152263.4(TPM3):c.*2147del GRCh37: Chr1:154138266 GRCh38: Chr1:154165790	TPM3		Nemaline myopathy, Congenital myopathy with fiber type disproportion	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 29266688.	NM_152263.4(TPM3):c.*2185C>T GRCh37: Chr1:154138228 GRCh38: Chr1:154165752	TPM3		Nemaline myopathy, Congenital myopathy with fiber type disproportion	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 29266589.	NM_152263.4(TPM3):c.*2211A>C GRCh37: Chr1:154138202 GRCh38: Chr1:154165726	TPM3		Nemaline myopathy, Congenital myopathy with fiber type disproportion	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 29266090.	NM_152263.4(TPM3):c.*2565G>A GRCh37: Chr1:154137848 GRCh38: Chr1:154165372	TPM3		Nemaline myopathy, Congenital myopathy with fiber type disproportion	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 29265791.	NM_152263.4(TPM3):c.*2719G>A GRCh37: Chr1:154137694 GRCh38: Chr1:154165218	TPM3		Nemaline myopathy, Congenital myopathy with fiber type disproportion	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 29265592.	NM_152263.4(TPM3):c.*2784C>T GRCh37: Chr1:154137629 GRCh38: Chr1:154165153	TPM3		Nemaline myopathy, Congenital myopathy with fiber type disproportion	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 29265493.	NM_152263.4(TPM3):c.*3248G>A GRCh37: Chr1:154137165 GRCh38: Chr1:154164689	TPM3		Nemaline myopathy, Congenital myopathy with fiber type disproportion	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 29265194.	NM_152263.4(TPM3):c.*3756dup GRCh37: Chr1:154136656-154136657 GRCh38: Chr1:154164180-154164181	TPM3		Nemaline myopathy, Congenital myopathy with fiber type disproportion	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 29264995.	NM_152263.4(TPM3):c.*3822G>T GRCh37: Chr1:154136591 GRCh38: Chr1:154164115	TPM3		Nemaline myopathy, Congenital myopathy with fiber type disproportion	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 29264696.	NM_152263.4(TPM3):c.*4203G>A GRCh37: Chr1:154136210 GRCh38: Chr1:154163734	TPM3		Nemaline myopathy, Congenital myopathy with fiber type disproportion	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 29264497.	NM_152263.4(TPM3):c.*4333A>G GRCh37: Chr1:154136080 GRCh38: Chr1:154163604	TPM3		Nemaline myopathy, Congenital myopathy with fiber type disproportion	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 29263998.	NM_152263.4(TPM3):c.4574_4578del GRCh37: Chr1:154135835-154135839 GRCh38: Chr1:154163359-154163363	TPM3		Nemaline myopathy, Congenital myopathy with fiber type disproportion	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 29263699.	NM_152263.4(TPM3):c.*4968A>G GRCh37: Chr1:154135445 GRCh38: Chr1:154162969	TPM3		Nemaline myopathy, Congenital myopathy with fiber type disproportion	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 292635100.	NM_152263.4(TPM3):c.5028_5029dup GRCh37: Chr1:154135383-154135384 GRCh38: Chr1:154162907-154162908	TPM3		Nemaline myopathy, Congenital myopathy with fiber type disproportion	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter

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