ClinVar for Gene (Select 1073) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3380183	NM_138638.5(CFL2):c.281C>T (p.Ser94Phe)	CFL2 (S77F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3266613	NM_138638.5(CFL2):c.398A>G (p.His133Arg)	CFL2 (H116R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3063339	GRCh37/hg19 14q13.1-13.2(chr14:35059946-35787671)x3	BAZ1A, CFL2 +6 more	Copy number gain	not specified	GUncertain significance
Select item 3063324	GRCh37/hg19 14q12-21.2(chr14:29190489-45325177)x1	AKAP6, AP4S1 +48 more	Copy number loss	not specified	GPathogenic
Select item 2976543	NM_138638.5(CFL2):c.126T>C (p.Asp42=)	CFL2	Single nucleotide variant (synonymous variant +1 more)	Nemaline myopathy 7	GLikely benign
Select item 2961846	NM_138638.5(CFL2):c.360T>C (p.Ser120=)	CFL2	Single nucleotide variant (synonymous variant +1 more)	Nemaline myopathy 7	GLikely benign
Select item 2911859	NM_138638.5(CFL2):c.273A>G (p.Thr91=)	CFL2	Single nucleotide variant (synonymous variant)	Nemaline myopathy 7	GLikely benign
Select item 2900169	NM_138638.5(CFL2):c.388+17T>C	CFL2	Single nucleotide variant (intron variant)	Nemaline myopathy 7	GLikely benign
Select item 2898330	NM_138638.5(CFL2):c.51T>C (p.Asp17=)	CFL2	Single nucleotide variant (5 prime UTR variant +2 more)	Nemaline myopathy 7	GLikely benign
Select item 2831681	NM_138638.5(CFL2):c.51T>A (p.Asp17Glu)	CFL2 (D17E)	Single nucleotide variant (5 prime UTR variant +2 more)	Nemaline myopathy 7	GUncertain significance
Select item 2802366	NM_138638.5(CFL2):c.312-12T>G	CFL2	Single nucleotide variant (intron variant)	Nemaline myopathy 7	GLikely benign
Select item 2785501	NM_138638.5(CFL2):c.312-19A>T	CFL2	Single nucleotide variant (intron variant)	Nemaline myopathy 7	GLikely benign
Select item 2722427	NM_138638.5(CFL2):c.4-115A>G	CFL2 (M1V)	Single nucleotide variant (missense variant +2 more)	Nemaline myopathy 7	GPathogenic
Select item 2722075	NM_138638.5(CFL2):c.408A>G (p.Gln136=)	CFL2	Single nucleotide variant (synonymous variant +1 more)	Nemaline myopathy 7	GLikely benign
Select item 2685482	GRCh37/hg19 14q13.1-13.3(chr14:34585231-37477843)x1	BAZ1A, BRMS1L +19 more	Copy number loss	not provided	GPathogenic
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2683250	NM_138638.5(CFL2):c.4-113G>A	CFL2 (M1I)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2683249	NM_138638.5(CFL2):c.380A>G (p.Lys127Arg)	CFL2 (K110R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2439931	NM_138638.5(CFL2):c.327A>G (p.Ala109=)	CFL2	Single nucleotide variant (synonymous variant +1 more)	Nemaline myopathy 7	GUncertain significance
Select item 2439930	NM_138638.5(CFL2):c.230T>G (p.Leu77Arg)	CFL2 (L60R +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 7	GUncertain significance
Select item 2439929	NM_138638.5(CFL2):c.500A>G (p.Ter167=)	CFL2	Single nucleotide variant (synonymous variant +1 more)	Nemaline myopathy 7	GUncertain significance
Select item 2424631	NC_000014.8:g.(?_35182071)_(35873850_?)del	BAZ1A, CFL2 +6 more	Deletion	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2419864	NM_138638.5(CFL2):c.67TCT[1] (p.Ser24del)	CFL2 (S24del +1 more)	Microsatellite (inframe_deletion +1 more)	Nemaline myopathy 7	GUncertain significance
Select item 2339192	NM_138638.5(CFL2):c.475G>A (p.Val159Ile)	CFL2 (V142I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2254241	NM_138638.5(CFL2):c.440C>T (p.Ser147Leu)	CFL2 (S130L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2166329	NM_138638.5(CFL2):c.389-9T>C	CFL2	Single nucleotide variant (intron variant)	Nemaline myopathy 7	GLikely benign
Select item 2145140	NM_138638.5(CFL2):c.97A>C (p.Lys33Gln)	CFL2 (K33Q +1 more)	Single nucleotide variant (missense variant +1 more)	Nemaline myopathy 7	GUncertain significance
Select item 2132309	NM_138638.5(CFL2):c.256G>A (p.Asp86Asn)	CFL2 (D69N +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 7	GUncertain significance
Select item 2123646	NM_138638.5(CFL2):c.25_26delinsAT (p.Asp9Ile)	CFL2 (D9I)	Indel (5 prime UTR variant +2 more)	Nemaline myopathy 7	GUncertain significance
Select item 2097768	NM_138638.5(CFL2):c.311+15A>G	CFL2	Single nucleotide variant (intron variant)	Nemaline myopathy 7	GLikely benign
Select item 2090512	NM_138638.5(CFL2):c.70T>G (p.Ser24Ala)	CFL2 (S7A +1 more)	Single nucleotide variant (missense variant +1 more)	Nemaline myopathy 7	GUncertain significance
Select item 2073433	NM_138638.5(CFL2):c.4-115A>C	CFL2 (M1L)	Single nucleotide variant (missense variant +2 more)	Nemaline myopathy 7	GPathogenic
Select item 2048959	NM_138638.5(CFL2):c.389-4T>C	CFL2	Single nucleotide variant (intron variant)	Nemaline myopathy 7	GLikely benign
Select item 2029518	NM_138638.5(CFL2):c.4-12_4-11del	CFL2	Microsatellite (intron variant)	Nemaline myopathy 7	GLikely benign
Select item 2000758	NM_138638.5(CFL2):c.154_157del (p.Ala52fs)	CFL2 (A52fs +1 more)	Deletion (frameshift variant +1 more)	Nemaline myopathy 7	GPathogenic
Select item 1964629	NM_138638.5(CFL2):c.116G>A (p.Cys39Tyr)	CFL2 (C22Y +1 more)	Single nucleotide variant (missense variant +1 more)	Nemaline myopathy 7	GUncertain significance
Select item 1911803	NM_138638.5(CFL2):c.4-17dup	CFL2	Duplication (intron variant)	Nemaline myopathy 7	GLikely benign
Select item 1879292	GRCh37/hg19 14q13.1-13.3(chr14:34904407-36784136)x1	BAZ1A, BRMS1L +14 more	Copy number loss	not provided	GPathogenic
Select item 1809008	GRCh37/hg19 14q13.1(chr14:35039194-35242186)x3	BAZ1A, CFL2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1718608	NM_138638.5(CFL2):c.176A>G (p.Asp59Gly)	CFL2 (D42G +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 7	GUncertain significance
Select item 1714379	NM_138638.5(CFL2):c.301T>C (p.Phe101Leu)	CFL2 (F101L +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 7	GUncertain significance
Select item 1713911	NM_138638.5(CFL2):c.469G>A (p.Val157Ile)	CFL2 (V140I +1 more)	Single nucleotide variant (missense variant +1 more)	Nemaline myopathy 7	GUncertain significance
Select item 1713798	NM_138638.5(CFL2):c.497T>C (p.Leu166Ser)	CFL2 (L149S +1 more)	Single nucleotide variant (missense variant +1 more)	Nemaline myopathy 7	GUncertain significance
Select item 1713372	NM_138638.5(CFL2):c.114C>A (p.Phe38Leu)	CFL2 (F21L +1 more)	Single nucleotide variant (missense variant +1 more)	Nemaline myopathy 7	GUncertain significance
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 1583680	NM_138638.5(CFL2):c.492A>G (p.Lys164=)	CFL2	Single nucleotide variant (synonymous variant +1 more)	Nemaline myopathy 7	GLikely benign
Select item 1532197	NM_138638.5(CFL2):c.4-95A>G	CFL2	Single nucleotide variant (intron variant)	Nemaline myopathy 7	GLikely benign
Select item 1469897	NM_138638.5(CFL2):c.127G>A (p.Asp43Asn)	CFL2 (D26N +1 more)	Single nucleotide variant (missense variant +1 more)	Nemaline myopathy 7	GUncertain significance
Select item 1455689	NM_138638.5(CFL2):c.4-14G>T	CFL2	Single nucleotide variant (intron variant)	Nemaline myopathy 7	GLikely benign
Select item 1444456	NM_138638.5(CFL2):c.22A>G (p.Asn8Asp)	CFL2 (N8D)	Single nucleotide variant (5 prime UTR variant +2 more)	Nemaline myopathy 7	GUncertain significance
Select item 1428070	NM_138638.5(CFL2):c.452A>G (p.Glu151Gly)	CFL2 (E134G +1 more)	Single nucleotide variant (missense variant +1 more)	Nemaline myopathy 7	GUncertain significance
Select item 1422535	NM_138638.5(CFL2):c.304A>G (p.Ile102Val)	CFL2 (I85V +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 7	GUncertain significance
Select item 1401361	NM_138638.5(CFL2):c.73A>G (p.Thr25Ala)	CFL2 (T25A +1 more)	Single nucleotide variant (missense variant +1 more)	Nemaline myopathy 7	GUncertain significance
Select item 1395680	NM_138638.5(CFL2):c.100_103del (p.Lys34fs)	CFL2 (K34fs +1 more)	Microsatellite (frameshift variant +1 more)	Nemaline myopathy 7 +1 more	GPathogenic
Select item 1377548	NM_138638.5(CFL2):c.276A>C (p.Lys92Asn)	CFL2 (K92N +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 7	GUncertain significance
Select item 1374330	NM_138638.5(CFL2):c.467A>G (p.Asn156Ser)	CFL2 (N139S +1 more)	Single nucleotide variant (missense variant +1 more)	Nemaline myopathy 7	GUncertain significance
Select item 1355538	NM_138638.5(CFL2):c.268G>A (p.Glu90Lys)	CFL2 (E73K +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 7	GUncertain significance
Select item 1349460	NM_138638.5(CFL2):c.78_80del (p.Glu28del)	CFL2 (E11del +1 more)	Deletion (inframe_deletion +1 more)	Nemaline myopathy 7	GUncertain significance
Select item 1297978	NC_000014.9:g.34714844dup	CFL2, LOC130055475	Duplication	not provided	GBenign
Select item 1293160	NM_138638.5(CFL2):c.3+99C>T	CFL2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 1266135	NC_000014.9:g.34714912del	CFL2, LOC130055475	Deletion	not provided	GBenign
Select item 1222468	NM_138638.5(CFL2):c.3+196G>T	CFL2, LOC130055474	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211502	NC_000014.9:g.34714742C>T	CFL2, LOC130055475	Single nucleotide variant	not provided	GLikely benign
Select item 1208120	NC_000014.9:g.34714838G>A	CFL2, LOC130055475	Single nucleotide variant	not provided	GLikely benign
Select item 1204506	NM_138638.5(CFL2):c.468T>A (p.Asn156Lys)	CFL2 (N139K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1196775	NM_138638.5(CFL2):c.3+328G>A	CFL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189918	NM_138638.5(CFL2):c.4-38del	CFL2	Deletion (intron variant)	not provided	GLikely benign
Select item 1182537	NM_138638.5(CFL2):c.3+234G>A	CFL2, LOC130055474	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1169467	NM_138638.5(CFL2):c.312-18dup	CFL2	Duplication (intron variant)	Nemaline myopathy 7	GBenign
Select item 1097731	NM_138638.5(CFL2):c.147A>T (p.Val49=)	CFL2	Single nucleotide variant (synonymous variant +1 more)	Nemaline myopathy 7	GLikely benign
Select item 1091002	NM_138638.5(CFL2):c.267C>T (p.Tyr89=)	CFL2	Single nucleotide variant (synonymous variant)	Nemaline myopathy 7	GLikely benign
Select item 1062469	NM_138638.5(CFL2):c.93G>C (p.Lys31Asn)	CFL2 (K14N +1 more)	Single nucleotide variant (missense variant +1 more)	Nemaline myopathy 7	GUncertain significance
Select item 1061574	NM_138638.5(CFL2):c.203A>G (p.Tyr68Cys)	CFL2 (Y51C +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 7	GUncertain significance
Select item 1047865	GRCh37/hg19 14q13.1-21.2(chr14:33608925-44570367)	BAZ1A, BRMS1L +33 more	Copy number loss	Poor motor coordination	GPathogenic
Select item 1030772	NM_138638.5(CFL2):c.316C>A (p.Pro106Thr)	CFL2 (P106T +1 more)	Single nucleotide variant (missense variant +1 more)	Nemaline myopathy 7	GUncertain significance
Select item 1017814	NM_138638.5(CFL2):c.349del (p.Tyr117fs)	CFL2 (Y100fs +1 more)	Deletion (frameshift variant +1 more)	Nemaline myopathy 7	GUncertain significance
Select item 1006980	NM_138638.5(CFL2):c.355A>T (p.Ser119Cys)	CFL2 (S102C +1 more)	Single nucleotide variant (missense variant +1 more)	Nemaline myopathy 7	GUncertain significance
Select item 1001719	NM_138638.5(CFL2):c.475G>T (p.Val159Phe)	CFL2 (V142F +1 more)	Single nucleotide variant (missense variant +1 more)	Nemaline myopathy 7	GUncertain significance
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided
Select item 971564	NM_138638.5(CFL2):c.242G>A (p.Arg81Gln)	CFL2 (R64Q +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 7 +1 more	GConflicting classifications of pathogenicity
Select item 954174	NM_138638.5(CFL2):c.151G>A (p.Glu51Lys)	CFL2 (E34K +1 more)	Single nucleotide variant (missense variant +1 more)	Nemaline myopathy 7	GUncertain significance
Select item 954128	NM_138638.5(CFL2):c.169G>A (p.Val57Met)	CFL2 (V40M +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 7	GUncertain significance
Select item 953422	NM_138638.5(CFL2):c.312-3T>G	CFL2	Single nucleotide variant (intron variant)	Nemaline myopathy 7	GUncertain significance
Select item 944237	NM_138638.5(CFL2):c.24TGA[1] (p.Asp9del)	CFL2 (D9del)	Microsatellite (5 prime UTR variant +2 more)	Nemaline myopathy 7	GUncertain significance
Select item 883716	NM_138638.5(CFL2):c.*1268C>T	CFL2	Single nucleotide variant (3 prime UTR variant +1 more)	Nemaline myopathy 7	GLikely benign
Select item 883715	NM_138638.5(CFL2):c.*1507C>T	CFL2	Single nucleotide variant (3 prime UTR variant +1 more)	Nemaline myopathy 7 +1 more	GUncertain significance
Select item 883714	NM_138638.5(CFL2):c.*1620T>C	CFL2	Single nucleotide variant (3 prime UTR variant +1 more)	Nemaline myopathy 7	GUncertain significance
Select item 883713	NM_138638.5(CFL2):c.*1759A>G	CFL2	Single nucleotide variant (3 prime UTR variant +1 more)	Nemaline myopathy 7 +1 more	GUncertain significance
Select item 883712	NM_138638.5(CFL2):c.*1810T>A	CFL2	Single nucleotide variant (3 prime UTR variant +1 more)	Nemaline myopathy 7	GUncertain significance
Select item 882972	NM_138638.5(CFL2):c.76C>G (p.Gln26Glu)	CFL2 (Q9E +1 more)	Single nucleotide variant (missense variant +1 more)	Nemaline myopathy 7	GUncertain significance
Select item 882971	NM_138638.5(CFL2):c.*40A>G	CFL2	Single nucleotide variant (3 prime UTR variant +1 more)	Nemaline myopathy 7	GLikely benign
Select item 882970	NM_138638.5(CFL2):c.*281A>G	CFL2	Single nucleotide variant (3 prime UTR variant +1 more)	Nemaline myopathy 7	GUncertain significance
Select item 882917	NM_138638.5(CFL2):c.*1886G>A	CFL2	Single nucleotide variant (3 prime UTR variant +1 more)	Nemaline myopathy 7	GUncertain significance
Select item 882916	NM_138638.5(CFL2):c.*2248G>A	CFL2	Single nucleotide variant (3 prime UTR variant +1 more)	Nemaline myopathy 7	GUncertain significance
Select item 881820	NM_138638.5(CFL2):c.*473A>G	CFL2	Single nucleotide variant (3 prime UTR variant +1 more)	Nemaline myopathy 7	GUncertain significance
Select item 881819	NM_138638.5(CFL2):c.*605T>C	CFL2	Single nucleotide variant (3 prime UTR variant +1 more)	Nemaline myopathy 7	GLikely benign
Select item 881818	NM_138638.5(CFL2):c.*671C>T	CFL2	Single nucleotide variant (3 prime UTR variant +1 more)	Nemaline myopathy 7	GLikely benign
Select item 881375	NM_138638.5(CFL2):c.*720A>T	CFL2	Single nucleotide variant (3 prime UTR variant +1 more)	Nemaline myopathy 7	GUncertain significance
Select item 881374	NM_138638.5(CFL2):c.*738A>G	CFL2	Single nucleotide variant (3 prime UTR variant +1 more)	Nemaline myopathy 7	GUncertain significance

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