7720[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146076	GRCh38/hg38 2q22.3-24.1(chr2:143900149-158321624)x3	ACVR1, ACVR1C +238 more	Copy number gain	See cases	GPathogenic
Select item 154515	GRCh38/hg38 2q22.3-24.1(chr2:146324191-156219125)x3	ACVR2A, ARL5A +146 more	Copy number gain	See cases	GPathogenic
Select item 60216	GRCh38/hg38 2q22.3-24.1(chr2:147251948-157856378)x1	ACVR1, ACVR1C +189 more	Copy number loss	See cases	GPathogenic
Select item 60217	GRCh38/hg38 2q22.3-23.3(chr2:147590324-153496674)x1	ACVR2A, ARL5A +119 more	Copy number loss	See cases	GPathogenic
Select item 60219	GRCh38/hg38 2q23.1-24.3(chr2:148917286-163204623)x1	ACVR1, ACVR1C +333 more	Copy number loss	See cases	GPathogenic
Select item 2499636	GRCh38/hg38 2q23.3(chr2:151451642-151807929)	ARL5A, LOC108348024 +7 more	Copy number loss	See cases	GUncertain significance
Select item 892682	NM_001164508.2(NEB):c.*316C>T	NEB, RIF1	Single nucleotide variant (3 prime UTR variant)	Nemaline myopathy 2	GUncertain significance
Select item 331397	NM_001164508.2(NEB):c.264_265del	NEB, RIF1	Deletion (3 prime UTR variant)	Nemaline Myopathy, Recessive	GLikely benign
Select item 892683	NM_001164508.2(NEB):c.*212T>C	NEB, RIF1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 893482	NM_001164508.2(NEB):c.*201A>T	NEB, RIF1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 893483	NM_001164508.2(NEB):c.*95G>A	NEB, RIF1	Single nucleotide variant (3 prime UTR variant)	Nemaline myopathy 2	GUncertain significance
Select item 331398	NM_001164508.2(NEB):c.*57C>T	NEB, RIF1	Single nucleotide variant (3 prime UTR variant)	Nemaline myopathy 2	GUncertain significance
Select item 331399	NM_001164508.2(NEB):c.*36C>T	NEB, RIF1	Single nucleotide variant (3 prime UTR variant)	Nemaline myopathy 2	GUncertain significance
Select item 893484	NM_001164508.2(NEB):c.25573A>G (p.Ile8525Val)	NEB, RIF1 (I8525V +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2	GUncertain significance
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 1501709	NM_001164508.2(NEB):c.25564G>T (p.Val8522Phe)	NEB, RIF1 (V6666F +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2	GUncertain significance
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 +2 more	GConflicting classifications of pathogenicity
Select item 1574459	NM_001164508.2(NEB):c.25563C>T (p.Tyr8521=)	NEB, RIF1	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 653358	NM_001164508.2(NEB):c.25555G>A (p.Ala8519Thr)	NEB, RIF1 (A6663T +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2892127	NM_001164508.2(NEB):c.25551C>T (p.Leu8517=)	NEB, RIF1	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 552112	NM_001164508.2(NEB):c.25544del (p.Gly8515fs)	NEB, RIF1 (G8515fs +2 more)	Deletion (frameshift variant)	Nemaline myopathy 2	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 552113	NM_001164508.2(NEB):c.25543G>T (p.Gly8515Ter)	NEB, RIF1 (G8550* +2 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2	GUncertain significance
Select item 737095	NM_001164508.2(NEB):c.25542C>G (p.Thr8514=)	NEB, RIF1	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 194578	NM_001164508.2(NEB):c.25542C>T (p.Thr8514=)	RIF1, NEB	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 2960447	NM_001164508.2(NEB):c.25540A>G (p.Thr8514Ala)	NEB, RIF1 (T8514A +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2	GLikely benign
Select item 3011312	NM_001164508.2(NEB):c.25536C>T (p.Gly8512=)	NEB, RIF1	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 1378961	NM_001164508.2(NEB):c.25535G>A (p.Gly8512Asp)	NEB, RIF1 (G6656D +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2	GUncertain significance
Select item 552076	NM_001164508.2(NEB):c.25534_25535insTATGCACTGTGCAGAGGACTG (p.Thr8511_Gly8512insValCysThrValGlnArgThr)	NEB, RIF1	Insertion (inframe_insertion)	Nemaline myopathy 2	GUncertain significance
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 2865897	NM_001164508.2(NEB):c.25527G>A (p.Gln8509=)	NEB, RIF1	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 771834	NM_001164508.2(NEB):c.25524G>A (p.Val8508=)	NEB, RIF1	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 2741268	NM_001164508.2(NEB):c.25522G>A (p.Val8508Met)	NEB, RIF1 (V6652M +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2	GLikely benign
Select item 1606935	NM_001164508.2(NEB):c.25521T>C (p.Thr8507=)	NEB, RIF1	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 1948242	NM_001164508.2(NEB):c.25519A>G (p.Thr8507Ala)	NEB, RIF1 (T8542A +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2	GUncertain significance
Select item 2956708	NM_001164508.2(NEB):c.25515T>C (p.Tyr8505=)	NEB, RIF1	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GBenign
Select item 2428086	NM_001164508.2(NEB):c.25509G>A (p.Trp8503Ter)	NEB, RIF1 (W6647* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 552114	NM_001164508.2(NEB):c.25508G>A (p.Trp8503Ter)	NEB, RIF1 (W8538* +2 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2	GUncertain significance
Select item 2689569	NM_001164508.2(NEB):c.25501G>A (p.Glu8501Lys)	NEB, RIF1 (E6645K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 553603	NM_001164508.2(NEB):c.25501G>T (p.Glu8501Ter)	NEB, RIF1 (E8536* +2 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2	GUncertain significance
Select item 2049775	NM_001164508.2(NEB):c.25500T>C (p.Asp8500=)	NEB, RIF1	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 655914	NM_001164508.2(NEB):c.25498G>A (p.Asp8500Asn)	NEB, RIF1 (D8500N +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2	GUncertain significance
Select item 1582092	NM_001164508.2(NEB):c.25479C>T (p.Ile8493=)	NEB, RIF1	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 2740166	NM_001164508.2(NEB):c.25476C>A (p.Ala8492=)	NEB, RIF1	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 797976	NM_001164508.2(NEB):c.25470A>G (p.Gly8490=)	NEB, RIF1	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 1972571	NM_001164508.2(NEB):c.25469G>A (p.Gly8490Glu)	RIF1, NEB (G8490E +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2	GUncertain significance
Select item 2741788	NM_001164508.2(NEB):c.25464G>A (p.Lys8488=)	NEB, RIF1	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 435961	NM_001164508.2(NEB):c.25463A>G (p.Lys8488Arg)	NEB, RIF1 (K6632R +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +4 more	GConflicting classifications of pathogenicity
Select item 1573090	NM_001164508.2(NEB):c.25452G>A (p.Glu8484=)	NEB, RIF1	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 1085139	NM_001164508.2(NEB):c.25449T>C (p.Asp8483=)	NEB, RIF1	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 2175559	NM_001164508.2(NEB):c.25447G>T (p.Asp8483Tyr)	NEB, RIF1 (D8483Y +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +1 more	GUncertain significance
Select item 1483844	NM_001164508.2(NEB):c.25447G>C (p.Asp8483His)	NEB, RIF1 (D8483H +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2	GUncertain significance
Select item 497734	NM_001164508.2(NEB):c.25445C>G (p.Ala8482Gly)	NEB, RIF1 (A6626G +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2836522	NM_001164508.2(NEB):c.25444G>A (p.Ala8482Thr)	NEB, RIF1 (A8482T +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2	GUncertain significance
Select item 2839460	NM_001164508.2(NEB):c.25443T>C (p.Asp8481=)	NEB, RIF1	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
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 2154679	NM_001164508.2(NEB):c.25438G>T (p.Ala8480Ser)	NEB, RIF1 (A8480S +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2	GLikely benign
Select item 502131	NM_001164508.2(NEB):c.25433T>C (p.Met8478Thr)	NEB, RIF1 (M8513T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1531816	NM_001164508.2(NEB):c.25431T>C (p.Tyr8477=)	NEB, RIF1	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 1452141	NM_001164508.2(NEB):c.25426_25429dup (p.Tyr8477Ter)	NEB, RIF1 (Y8512* +2 more)	Duplication (nonsense)	Arthrogryposis multiplex congenita 6 +1 more	GPathogenic/Likely pathogenic
Select item 550066	NM_001164508.2(NEB):c.25429_25430insG (p.Tyr8477Ter)	NEB, RIF1 (Y6621* +2 more)	Insertion (nonsense)	Nemaline myopathy 2	GUncertain significance
Select item 1937356	NM_001164508.2(NEB):c.25429T>C (p.Tyr8477His)	NEB, RIF1 (Y6621H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 948361	NM_001164508.2(NEB):c.25415G>A (p.Arg8472His)	RIF1, NEB (R8472H +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +1 more	GConflicting classifications of pathogenicity
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 1080759	NM_001164508.2(NEB):c.25413C>T (p.Phe8471=)	NEB, RIF1	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 2677104	NM_001164508.2(NEB):c.25408_25409del (p.Ile8470fs)	NEB, RIF1 (I6614fs +2 more)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 1495367	NM_001164508.2(NEB):c.25409T>C (p.Ile8470Thr)	NEB, RIF1 (I8470T +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2	GUncertain significance
Select item 2677016	NM_001164508.2(NEB):c.25405-1G>A	NEB, RIF1	Single nucleotide variant (splice acceptor variant)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 552075	NM_001164508.2(NEB):c.25405-1G>C	NEB, RIF1	Single nucleotide variant (splice acceptor variant)	Nemaline myopathy 2	GUncertain significance
Select item 1420420	NM_001164508.2(NEB):c.25405-3T>G	NEB, RIF1	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GUncertain significance
Select item 2833712	NM_001164508.2(NEB):c.25405-6G>T	RIF1, NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 702332	NM_001164508.2(NEB):c.25405-7C>T	NEB, RIF1	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 3004420	NM_001164508.2(NEB):c.25405-10C>T	NEB, RIF1	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 2811756	NM_001164508.2(NEB):c.25405-11C>T	NEB, RIF1	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 2802281	NM_001164508.2(NEB):c.25405-12C>A	NEB, RIF1	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 2994918	NM_001164508.2(NEB):c.25405-15del	NEB, RIF1	Deletion (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 257805	NM_001164508.2(NEB):c.25405-17dup	NEB, RIF1	Duplication (intron variant)	not specified +2 more	GBenign
Select item 2763561	NM_001164508.2(NEB):c.25405-17T>A	NEB, RIF1	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 2789240	NM_001164508.2(NEB):c.25405-20T>G	NEB, RIF1	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 257806	NM_001164508.2(NEB):c.25405-34T>C	NEB, RIF1	Single nucleotide variant (intron variant)	Arthrogryposis multiplex congenita 6 +2 more	GBenign
Select item 2785580	NM_001164508.2(NEB):c.25404+14A>T	NEB, RIF1	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 2418797	NM_001164508.2(NEB):c.25404+14A>G	NEB, RIF1	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 3000419	NM_001164508.2(NEB):c.25404+13C>T	NEB, RIF1	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 1113291	NM_001164508.2(NEB):c.25404+10T>A	NEB, RIF1	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 1077441	NM_001164508.2(NEB):c.25404+10T>C	NEB, RIF1	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 552180	NM_001164508.2(NEB):c.25404+1_25404+2insATGGA	NEB, RIF1	Insertion (splice donor variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 552048	NM_001164508.2(NEB):c.25404+2T>A	NEB, RIF1	Single nucleotide variant (splice donor variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 2677072	NM_001164508.2(NEB):c.25404+1G>T	NEB, RIF1	Single nucleotide variant (splice donor variant)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 2677040	NM_001164508.2(NEB):c.25404+1G>A	NEB, RIF1	Single nucleotide variant (splice donor variant)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 1350140	NM_001164508.2(NEB):c.25396A>G (p.Thr8466Ala)	NEB, RIF1 (T6610A +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2	GUncertain significance
Select item 129735	NM_001164508.2(NEB):c.25395T>G (p.Ser8465=)	NEB, RIF1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2041271	NM_001164508.2(NEB):c.25390C>G (p.Pro8464Ala)	NEB, RIF1 (P6608A +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +1 more	GConflicting classifications of pathogenicity
Select item 1064161	NM_001164508.2(NEB):c.25390C>A (p.Pro8464Thr)	NEB, RIF1 (P6608T +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2	GLikely benign
Select item 2417247	NM_001164508.2(NEB):c.25386T>C (p.Ser8462=)	NEB, RIF1	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 1641779	NM_001164508.2(NEB):c.25377C>T (p.Ser8459=)	NEB, RIF1	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 706828	NM_001164508.2(NEB):c.25368G>A (p.Thr8456=)	NEB, RIF1	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 194453	NM_001164508.2(NEB):c.25367C>T (p.Thr8456Met)	NEB, RIF1 (T8491M +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 2765058	NM_001164508.2(NEB):c.25362G>A (p.Gln8454=)	NEB, RIF1	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign

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