"Ambry Genetics"[submitter] AND "NEB"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3189285	NM_001164508.2(NEB):c.25565T>G (p.Val8522Gly)	NEB, RIF1 (V8522G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2202536	NM_001164508.2(NEB):c.25565T>C (p.Val8522Ala)	NEB, RIF1 (V8557A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 1366105	NM_001164508.2(NEB):c.25543G>A (p.Gly8515Arg)	NEB, RIF1 (G8515R +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +1 more	GConflicting classifications of pathogenicity
Select item 2078290	NM_001164508.2(NEB):c.25534G>C (p.Gly8512Arg)	NEB, RIF1 (G6656R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 843117	NM_001164508.2(NEB):c.25534G>A (p.Gly8512Ser)	NEB, RIF1 (G8547S +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +1 more	GConflicting classifications of pathogenicity
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 331401	NM_001164508.2(NEB):c.25414C>T (p.Arg8472Cys)	NEB, RIF1 (R6616C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 2618012	NM_001164508.2(NEB):c.25276G>A (p.Gly8426Ser)	NEB, RIF1 (G6570S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1026155	NM_001164508.2(NEB):c.25259C>T (p.Ser8420Leu)	NEB, RIF1 (S6564L +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +2 more	GConflicting classifications of pathogenicity
Select item 1009275	NM_001164508.2(NEB):c.25240G>A (p.Ala8414Thr)	NEB, RIF1 (A6558T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 893783	NM_001164508.2(NEB):c.25171C>T (p.Arg8391Trp)	NEB, RIF1 (R6535W +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +2 more	GConflicting classifications of pathogenicity
Select item 642259	NM_001164508.2(NEB):c.25162C>T (p.Arg8388Cys)	NEB, RIF1 (R6532C +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1391277	NM_001164508.2(NEB):c.25141A>C (p.Met8381Leu)	NEB, RIF1 (M6525L +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 578867	NM_001164508.2(NEB):c.25064G>A (p.Arg8355His)	NEB, RIF1 (R8390H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
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 331405	NM_001164508.2(NEB):c.25028G>A (p.Arg8343Gln)	NEB, RIF1 (R6487Q +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +1 more	GConflicting classifications of pathogenicity
Select item 465586	NM_001164508.2(NEB):c.24897G>C (p.Glu8299Asp)	NEB, RIF1 (E8334D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2081248	NM_001164508.2(NEB):c.24872C>T (p.Thr8291Met)	NEB, RIF1 (T6435M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2074517	NM_001164508.2(NEB):c.24860G>A (p.Arg8287Gln)	NEB, RIF1 (R6431Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2618429	NM_001164508.2(NEB):c.24848G>T (p.Arg8283Met)	NEB, RIF1 (R6427M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1903042	NM_001164508.2(NEB):c.24787C>T (p.Arg8263Trp)	NEB, RIF1 (R8298W +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +1 more	GConflicting classifications of pathogenicity
Select item 2483456	NM_001164508.2(NEB):c.24719C>T (p.Thr8240Ile)	NEB, RIF1 (T8240I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 194452	NM_001164508.2(NEB):c.24665_24666del (p.Asn8221_Phe8222insTer)	NEB, RIF1	Deletion (nonsense)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 2055925	NM_001164508.2(NEB):c.24620C>G (p.Pro8207Arg)	NEB, RIF1 (P8207R +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 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 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 2466988	NM_001164508.2(NEB):c.24484T>C (p.Ser8162Pro)	NEB, RIF1 (S6306P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313118	NM_001164508.2(NEB):c.24422G>C (p.Gly8141Ala)	NEB, RIF1 (G6285A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 968443	NM_001164508.2(NEB):c.23893G>C (p.Glu7965Gln)	NEB, RIF1 (E7965Q +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +1 more	GConflicting classifications of pathogenicity
Select item 1057889	NM_001164508.2(NEB):c.23889G>C (p.Glu7963Asp)	NEB, RIF1 (E6262D +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +1 more	GUncertain significance
Select item 465573	NM_001164508.2(NEB):c.23840T>G (p.Leu7947Trp)	NEB, RIF1 (L7982W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2336835	NM_001164508.2(NEB):c.23820A>C (p.Gln7940His)	NEB, RIF1 (Q7940H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 970552	NM_001164508.2(NEB):c.23789C>A (p.Thr7930Asn)	NEB, RIF1 (T7965N +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2558620	NM_001164508.2(NEB):c.23785G>A (p.Val7929Met)	NEB, RIF1 (V6228M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2295403	NM_001164508.2(NEB):c.23744T>A (p.Val7915Asp)	NEB, RIF1 (V7950D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1041527	NM_001164508.2(NEB):c.23743G>A (p.Val7915Ile)	NEB, RIF1 (V6214I +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +1 more	GUncertain significance
Select item 2491561	NM_001164508.2(NEB):c.23729A>G (p.Lys7910Arg)	NEB, RIF1 (K6209R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2434121	NM_001164508.2(NEB):c.23723C>G (p.Thr7908Arg)	NEB, RIF1 (T6207R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2242799	NM_001164508.2(NEB):c.23696T>C (p.Leu7899Pro)	NEB, RIF1 (L6198P +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2769879	NM_001164508.2(NEB):c.23588C>T (p.Thr7863Met)	NEB, RIF1 (T6162M +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +1 more	GConflicting classifications of pathogenicity
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 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 2153113	NM_001164508.2(NEB):c.23433C>A (p.Asn7811Lys)	NEB, RIF1 (N7811K +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +1 more	GConflicting classifications of pathogenicity
Select item 521698	NM_001164508.2(NEB):c.23418G>T (p.Gln7806His)	NEB, RIF1 (Q6105H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 447756	NM_001164508.2(NEB):c.23377A>C (p.Met7793Leu)	NEB, RIF1 (M7828L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 95118	NM_001164508.2(NEB):c.23278A>G (p.Asn7760Asp)	NEB, RIF1 (N6059D +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 967377	NM_001164508.2(NEB):c.23198C>T (p.Pro7733Leu)	NEB, RIF1 (P6032L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 2184960	NM_001164508.2(NEB):c.23146C>A (p.Leu7716Met)	NEB, RIF1 (L6015M +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 257796	NM_001164508.2(NEB):c.23141G>A (p.Arg7714Gln)	NEB, RIF1 (R7749Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1440785	NM_001164508.2(NEB):c.23083C>A (p.Pro7695Thr)	NEB, RIF1 (P5994T +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1963244	NM_001164508.2(NEB):c.23014G>A (p.Glu7672Lys)	NEB, RIF1 (E5971K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2058924	NM_001164508.2(NEB):c.23006T>C (p.Ile7669Thr)	NEB, RIF1 (I7669T +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +1 more	GConflicting classifications of pathogenicity
Select item 2250102	NM_001164508.2(NEB):c.22892A>G (p.Gln7631Arg)	NEB, RIF1 (Q7666R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337698	NM_001164508.2(NEB):c.22630G>A (p.Val7544Met)	NEB, RIF1 (V7579M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476717	NM_001164508.2(NEB):c.22595A>G (p.Lys7532Arg)	NEB, RIF1 (K7532R +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +1 more	GConflicting classifications of pathogenicity
Select item 3299104	NM_001164508.2(NEB):c.22559T>C (p.Val7520Ala)	NEB, RIF1 (V5819A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286267	NM_001164508.2(NEB):c.22538A>T (p.Lys7513Ile)	NEB, RIF1 (K7513I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 842071	NM_001164508.2(NEB):c.22535C>T (p.Pro7512Leu)	NEB, RIF1 (P7547L +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 498118	NM_001164508.2(NEB):c.22535C>G (p.Pro7512Arg)	RIF1, NEB (P5811R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2167935	NM_001164508.2(NEB):c.22513G>A (p.Gly7505Ser)	NEB, RIF1 (G7505S +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +1 more	GUncertain significance
Select item 838738	NM_001164508.2(NEB):c.22504A>G (p.Lys7502Glu)	RIF1, NEB (K5801E +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +1 more	GConflicting classifications of pathogenicity
Select item 2312304	NM_001164508.2(NEB):c.22480G>C (p.Val7494Leu)	NEB, RIF1 (V7529L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 566369	NM_001164508.2(NEB):c.22441A>G (p.Ile7481Val)	NEB, RIF1 (I7516V +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +2 more	GUncertain significance
Select item 659125	NM_001164508.2(NEB):c.22433G>A (p.Arg7478His)	NEB, RIF1 (R5777H +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +1 more	GConflicting classifications of pathogenicity
Select item 2038599	NM_001164508.2(NEB):c.22397G>A (p.Arg7466His)	NEB, RIF1 (R5765H +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +1 more	GConflicting classifications of pathogenicity
Select item 1960675	NM_001164508.2(NEB):c.22330C>G (p.Pro7444Ala)	NEB, RIF1 (P5743A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3189097	NM_001164508.2(NEB):c.22267A>C (p.Ser7423Arg)	NEB, RIF1 (S5722R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2141635	NM_001164508.2(NEB):c.22262A>G (p.Lys7421Arg)	NEB, RIF1 (K7421R +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +1 more	GConflicting classifications of pathogenicity
Select item 1967851	NM_001164508.2(NEB):c.22252G>A (p.Val7418Met)	RIF1, NEB (V5717M +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +1 more	GUncertain significance
Select item 965485	NM_001164508.2(NEB):c.22131C>G (p.His7377Gln)	NEB, RIF1 (H5676Q +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +1 more	GConflicting classifications of pathogenicity
Select item 447755	NM_001164508.2(NEB):c.22114A>T (p.Thr7372Ser)	RIF1, NEB (T7407S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3189079	NM_001164508.2(NEB):c.22113G>C (p.Glu7371Asp)	NEB, RIF1 (E5670D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275348	NM_001164508.2(NEB):c.22109C>G (p.Pro7370Arg)	NEB, RIF1 (P7405R +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +2 more	GConflicting classifications of pathogenicity
Select item 705827	NM_001164508.2(NEB):c.22108C>G (p.Pro7370Ala)	NEB, RIF1 (P5669A +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 465560	NM_001164508.2(NEB):c.22042G>A (p.Val7348Met)	NEB, RIF1 (V7383M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 722040	NM_001164508.2(NEB):c.22023G>A (p.Ala7341=)	NEB, RIF1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 2434202	NM_001164508.2(NEB):c.21979G>C (p.Gly7327Arg)	NEB, RIF1 (G5626R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2536645	NM_001164508.2(NEB):c.21904A>C (p.Asn7302His)	NEB, RIF1 (N7337H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1919399	NM_001164508.2(NEB):c.21868C>T (p.Leu7290Phe)	NEB, RIF1 (L7325F +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2337296	NM_001164508.2(NEB):c.21859C>T (p.Arg7287Trp)	NEB, RIF1 (R7287W +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +2 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)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 387835	NM_001164508.2(NEB):c.21797C>T (p.Pro7266Leu)	NEB, RIF1 (P7301L +2 more)	Single nucleotide variant (missense variant)	Peripheral neuropathy +4 more	GConflicting classifications of pathogenicity
Select item 894756	NM_001164508.2(NEB):c.21779A>G (p.Lys7260Arg)	NEB, RIF1 (K7295R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 646007	NM_001164508.2(NEB):c.21757G>A (p.Glu7253Lys)	NEB, RIF1 (E7253K +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 194141	NM_001164508.2(NEB):c.21751C>G (p.Gln7251Glu)	NEB, RIF1 (Q7286E +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +3 more	GConflicting classifications of pathogenicity
Select item 2143846	NM_001164508.2(NEB):c.21739G>C (p.Asp7247His)	NEB, RIF1 (D5546H +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +1 more	GUncertain significance
Select item 465554	NM_001164508.2(NEB):c.21673A>T (p.Thr7225Ser)	NEB, RIF1 (T7260S +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 424311	NM_001164508.2(NEB):c.21664T>A (p.Ser7222Thr)	NEB, RIF1 (S7257T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 465551	NM_001164508.2(NEB):c.21491G>A (p.Arg7164His)	NEB, RIF1 (R7199H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2069897	NM_001164508.2(NEB):c.21490C>T (p.Arg7164Cys)	NEB, RIF1 (R7164C +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +1 more	GConflicting classifications of pathogenicity
Select item 2327621	NM_001164508.2(NEB):c.21435C>A (p.Asn7145Lys)	NEB, RIF1 (N5444K +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +1 more	GConflicting classifications of pathogenicity

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