1875[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 57750	GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1	MIR4503, MIR624 +399 more	Copy number loss	See cases	GPathogenic
Select item 146008	GRCh38/hg38 14q12-21.1(chr14:30382554-37712341)x1	AKAP6, AP4S1 +179 more	Copy number loss	See cases	GPathogenic
Select item 58523	GRCh38/hg38 14q12-21.2(chr14:30670314-44990595)x3	INSM2, KLHL28 +237 more	Copy number gain	See cases	GPathogenic
Select item 154996	GRCh38/hg38 14q12-21.2(chr14:30792271-44685131)x1	LOC126861917, LOC126861918 +225 more	Copy number loss	See cases	GPathogenic
Select item 154467	GRCh38/hg38 14q13.1-13.3(chr14:33762166-36191750)x1	BAZ1A, BAZ1A-AS1 +88 more	Copy number loss	See cases	GUncertain significance
Select item 154047	GRCh38/hg38 14q13.1-21.1(chr14:33880412-42359485)x1	BAZ1A, BAZ1A-AS1 +156 more	Copy number loss	See cases	GPathogenic
Select item 153467	GRCh38/hg38 14q13.1(chr14:34548652-34758172)x1	BAZ1A, CFL2 +8 more	Copy number loss	See cases	GUncertain significance
Select item 657372	NC_000014.9:g.(?_34710372)_(34713686_?)del	CFL2	Deletion	Nemaline myopathy 7	GPathogenic
Select item 313075	NM_138638.5(CFL2):c.*2340T>G	CFL2	Single nucleotide variant (3 prime UTR variant +1 more)	Nemaline myopathy 7	GUncertain significance
Select item 313076	NM_138638.5(CFL2):c.*2284C>T	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 313077	NM_138638.5(CFL2):c.*2233del	CFL2	Deletion (3 prime UTR variant +1 more)	Nemaline Myopathy, Recessive	GUncertain significance
Select item 313078	NM_138638.5(CFL2):c.2076_2078dup	CFL2	Duplication (3 prime UTR variant +1 more)	Nemaline Myopathy, Recessive	GUncertain significance
Select item 313079	NM_138638.5(CFL2):c.*2038G>T	CFL2	Single nucleotide variant (3 prime UTR variant +1 more)	Nemaline myopathy 7 +1 more	GBenign
Select item 313080	NM_138638.5(CFL2):c.*1905A>G	CFL2	Single nucleotide variant (3 prime UTR variant +1 more)	Nemaline myopathy 7	GBenign
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 313081	NM_138638.5(CFL2):c.*1885C>T	CFL2	Single nucleotide variant (3 prime UTR variant +1 more)	Nemaline myopathy 7	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 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 313082	NM_138638.5(CFL2):c.*1682A>T	CFL2	Single nucleotide variant (3 prime UTR variant +1 more)	Nemaline myopathy 7 +1 more	GBenign
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 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 313083	NM_138638.5(CFL2):c.*1393del	CFL2	Deletion (3 prime UTR variant +1 more)	Nemaline Myopathy, Recessive	GBenign
Select item 313084	NM_138638.5(CFL2):c.1295_1297del	CFL2	Deletion (3 prime UTR variant +1 more)	Nemaline Myopathy, Recessive	GBenign
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 313085	NM_138638.5(CFL2):c.*1070G>A	CFL2	Single nucleotide variant (3 prime UTR variant +1 more)	Nemaline myopathy 7	GUncertain significance
Select item 313086	NM_138638.5(CFL2):c.*1036G>A	CFL2	Single nucleotide variant (3 prime UTR variant +1 more)	Nemaline myopathy 7 +1 more	GConflicting classifications of pathogenicity
Select item 881372	NM_138638.5(CFL2):c.*1030C>G	CFL2	Single nucleotide variant (3 prime UTR variant +1 more)	Nemaline myopathy 7	GUncertain significance
Select item 313087	NM_138638.5(CFL2):c.*995T>C	CFL2	Single nucleotide variant (3 prime UTR variant +1 more)	Nemaline myopathy 7	GUncertain significance
Select item 313088	NM_138638.5(CFL2):c.*925T>C	CFL2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 881373	NM_138638.5(CFL2):c.*905A>G	CFL2	Single nucleotide variant (3 prime UTR variant +1 more)	Nemaline myopathy 7	GLikely benign
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
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 313089	NM_138638.5(CFL2):c.*718A>G	CFL2	Single nucleotide variant (3 prime UTR variant +1 more)	Nemaline myopathy 7	GUncertain significance
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 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 313090	NM_138638.5(CFL2):c.*541A>G	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 313091	NM_138638.5(CFL2):c.*409T>G	CFL2	Single nucleotide variant (3 prime UTR variant +1 more)	Nemaline myopathy 7	GBenign
Select item 313092	NM_138638.5(CFL2):c.*362G>A	CFL2	Single nucleotide variant (3 prime UTR variant +1 more)	Nemaline myopathy 7	GUncertain significance
Select item 313093	NM_138638.5(CFL2):c.*293G>A	CFL2	Single nucleotide variant (3 prime UTR variant +1 more)	Nemaline myopathy 7	GUncertain significance
Select item 313094	NM_138638.5(CFL2):c.*285A>G	CFL2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
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 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 313095	NM_138638.5(CFL2):c.*35C>T	CFL2	Single nucleotide variant (3 prime UTR variant +1 more)	Nemaline myopathy 7 +1 more	GBenign/Likely benign
Select item 583711	NC_000014.8:g.(?_35182051)_(35183766_?)dup	CFL2, LOC130055474 +1 more	Duplication	Nemaline myopathy 7	GUncertain significance
Select item 583485	NC_000014.9:g.(?_34712845)_(34714560_?)del	CFL2, LOC130055474 +1 more	Deletion	Nemaline myopathy 7	GPathogenic
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 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 743607	NM_138638.5(CFL2):c.495A>G (p.Pro165=)	CFL2	Single nucleotide variant (synonymous variant +1 more)	Nemaline myopathy 7	GLikely benign
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 662117	NM_138638.5(CFL2):c.471AGT[1] (p.Val159del)	CFL2 (V142del +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 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 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 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 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 128713	NM_138638.5(CFL2):c.457T>G (p.Leu153Val)	CFL2 (L153V +1 more)	Single nucleotide variant (missense variant +1 more)	Nemaline myopathy 7 +1 more	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 261431	NM_138638.5(CFL2):c.441G>A (p.Ser147=)	CFL2	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
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 750650	NM_138638.5(CFL2):c.418T>C (p.Leu140=)	CFL2	Single nucleotide variant (synonymous variant +1 more)	Nemaline myopathy 7	GLikely benign
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 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 2048959	NM_138638.5(CFL2):c.389-4T>C	CFL2	Single nucleotide variant (intron variant)	Nemaline myopathy 7	GLikely benign
Select item 2166329	NM_138638.5(CFL2):c.389-9T>C	CFL2	Single nucleotide variant (intron variant)	Nemaline myopathy 7	GLikely benign
Select item 465805	NM_138638.5(CFL2):c.389-9del	CFL2	Deletion (intron 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 583009	NM_138638.5(CFL2):c.388G>C (p.Gly130Arg)	CFL2 (G130R +1 more)	Single nucleotide variant (missense variant +1 more)	Nemaline myopathy 7	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 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 465804	NM_138638.5(CFL2):c.357C>T (p.Ser119=)	CFL2	Single nucleotide variant (synonymous variant +1 more)	Nemaline myopathy 7	GLikely benign
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 689581	NM_138638.5(CFL2):c.353C>G (p.Ala118Gly)	CFL2 (A101G +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 800930	NM_138638.5(CFL2):c.338del (p.Ser113fs)	CFL2 (S96fs +1 more)	Deletion (frameshift variant +1 more)	Nemaline myopathy 7	GPathogenic
Select item 650607	NM_138638.5(CFL2):c.328C>T (p.Pro110Ser)	CFL2 (P93S +1 more)	Single nucleotide variant (missense variant +1 more)	Nemaline myopathy 7	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 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 953422	NM_138638.5(CFL2):c.312-3T>G	CFL2	Single nucleotide variant (intron variant)	Nemaline myopathy 7	GUncertain significance
Select item 1169467	NM_138638.5(CFL2):c.312-18dup	CFL2	Duplication (intron variant)	Nemaline myopathy 7	GBenign
Select item 741878	NM_138638.5(CFL2):c.312-8_312-7del	CFL2	Deletion (intron variant)	Nemaline myopathy 7	GBenign
Select item 313096	NM_138638.5(CFL2):c.312-7del	CFL2	Deletion (intron variant)	Nemaline myopathy 7 +2 more	GBenign
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 678927	NM_138638.5(CFL2):c.311+45TAT[2]	CFL2	Microsatellite (intron variant)	not provided	GBenign
Select item 508492	NM_138638.5(CFL2):c.311+18A>G	CFL2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2097768	NM_138638.5(CFL2):c.311+15A>G	CFL2	Single nucleotide variant (intron variant)	Nemaline myopathy 7	GLikely benign
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 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 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 753309	NM_138638.5(CFL2):c.276A>G (p.Lys92=)	CFL2	Single nucleotide variant (synonymous variant)	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 1355538	NM_138638.5(CFL2):c.268G>A (p.Glu90Lys)	CFL2 (E73K +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 7	GUncertain significance

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