LOC126861897[gene] - 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 57246	GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3	ABHD4, ACIN1 +399 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 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	LOC124958010, LOC124958011 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 58306	GRCh38/hg38 14q11.2(chr14:23260803-23763521)x3	AP1G2, AP1G2-AS1 +45 more	Copy number gain	See cases	GUncertain significance
Select item 14146	NC_000014.9:g.23390032_23419824dup	LOC114827851, LOC126861897 +4 more	Duplication	Myosin, cardiac, heavy chain variant	GPathogenic
Select item 583981	NC_000014.8:g.(?_23859246)_(23889463_?)dup	LOC114827851, LOC126861897 +4 more	Duplication	Hypertrophic cardiomyopathy	GUncertain significance
Select item 470501	NC_000014.8:g.(?_23861751)_(23889463_?)dup	LOC114827851, MIR208B +4 more	Duplication	Hypertrophic cardiomyopathy 14 +1 more	GUncertain significance
Select item 3076072	NC_000014.9:g.(?_23412738)_(23420234_?)del	LOC126861897, MHRT +2 more	Deletion	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 968207	NM_000257.4(MYH7):c.5306T>C (p.Leu1769Pro)	LOC126861897, MYH7 (L1769P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 161323	NM_000257.4(MYH7):c.5305C>A (p.Leu1769Met)	LOC126861897, MYH7 (L1769M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance FDA Recognized database
Select item 2822008	NM_000257.4(MYH7):c.5304G>A (p.Glu1768=)	LOC126861897, MYH7	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 228916	NM_000257.4(MYH7):c.5302_5303delinsAT (p.Glu1768Met)	LOC126861897, MYH7 (E1768M)	Indel (missense variant)	not specified	GUncertain significance
Select item 1685379	NC_000014.9:g.23415255_23415272del	LOC126861897, MYH7	Deletion	MYH7-related skeletal myopathy	GLikely pathogenic
Select item 43059	NM_000257.4(MYH7):c.5302G>A (p.Glu1768Lys)	LOC126861897, MYH7 (E1768K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance FDA Recognized database
Select item 14128	NM_000257.4(MYH7):c.5296G>A (p.Ala1766Thr)	LOC126861897, MYH7 (A1766T)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 665927	NM_000257.4(MYH7):c.5294T>A (p.Met1765Lys)	LOC126861897, MYH7 (M1765K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 955656	NM_000257.4(MYH7):c.5293A>G (p.Met1765Val)	LOC126861897, MYH7 (M1765V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2766678	NM_000257.4(MYH7):c.5292G>A (p.Met1764Ile)	LOC126861897, MYH7 (M1764I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 926783	NM_000257.4(MYH7):c.5291T>C (p.Met1764Thr)	LOC126861897, MYH7 (M1764T)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 2689497	NM_000257.4(MYH7):c.5287G>T (p.Ala1763Ser)	LOC126861897, MYH7 (A1763S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 177846	NM_000257.4(MYH7):c.5287G>A (p.Ala1763Thr)	LOC126861897, MYH7 (A1763T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +11 more	GUncertain significance
Select item 227599	NM_000257.4(MYH7):c.5286C>T (p.Ala1762=)	LOC126861897, MYH7	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 651862	NM_000257.4(MYH7):c.5284-3C>T	LOC126861897, MYH7	Single nucleotide variant (intron variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 2864386	NM_000257.4(MYH7):c.5284-7C>A	LOC126861897, MYH7	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 2169374	NM_000257.4(MYH7):c.5284-16T>A	LOC126861897, MYH7	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 1551608	NM_000257.4(MYH7):c.5284-17C>T	LOC126861897, MYH7	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 1201345	NM_000257.4(MYH7):c.5284-45G>A	LOC126861897, MYH7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 188643	NM_000257.4(MYH7):c.5284-45G>T	LOC126861897, MYH7	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1213643	NM_000257.4(MYH7):c.5283+46G>A	LOC126861897, MYH7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194109	NM_000257.4(MYH7):c.5283+25G>A	LOC126861897, MYH7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2157783	NM_000257.4(MYH7):c.5283+20G>A	LOC126861897, MYH7	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 1538390	NM_000257.4(MYH7):c.5283+20G>T	LOC126861897, MYH7	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 138384	NM_000257.4(MYH7):c.5283+19C>T	LOC126861897, MYH7	Single nucleotide variant (intron variant)	not provided +8 more	GBenign/Likely benign
Select item 2894148	NM_000257.4(MYH7):c.5283+18C>G	LOC126861897, MYH7	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 1592019	NM_000257.4(MYH7):c.5283+15C>T	LOC126861897, MYH7	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 1582627	NM_000257.4(MYH7):c.5283+13C>T	LOC126861897, MYH7	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 1276404	NM_000257.4(MYH7):c.5283+11del	LOC126861897, MYH7	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1051155	NM_000257.4(MYH7):c.5283+6_5283+11del	LOC126861897, MYH7	Deletion (intron variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 760952	NM_000257.4(MYH7):c.5283+9C>G	LOC126861897, MYH7	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 755652	NM_000257.4(MYH7):c.5283+7C>T	LOC126861897, MYH7	Single nucleotide variant (intron variant)	Cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 2579439	NM_000257.4(MYH7):c.5283+4A>C	LOC126861897, MYH7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 998649	NM_000257.4(MYH7):c.5283+4A>G	LOC126861897, MYH7	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 585162	NM_000257.4(MYH7):c.5283+2dup	LOC126861897, MYH7	Duplication (splice donor variant)	not provided	Gnot provided
Select item 1512836	NM_000257.4(MYH7):c.5283+2T>C	LOC126861897, MYH7	Single nucleotide variant (splice donor variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1299602	NM_000257.4(MYH7):c.5283+1G>A	LOC126861897, MYH7	Single nucleotide variant (splice donor variant)	Dilated cardiomyopathy 1S	GUncertain significance
Select item 920037	NM_000257.4(MYH7):c.5283T>G (p.Asp1761Glu)	LOC126861897, MYH7 (D1761E)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3348579	NM_000257.4(MYH7):c.5281del (p.Asp1761fs)	LOC126861897, MYH7 (D1761fs)	Deletion (frameshift variant)	MYH7-related disorder	GUncertain significance
Select item 1473598	NM_000257.4(MYH7):c.5281G>A (p.Asp1761Asn)	LOC126861897, MYH7 (D1761N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 507625	NM_000257.4(MYH7):c.5280G>A (p.Thr1760=)	LOC126861897, MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy +2 more	GLikely benign
Select item 1526128	NM_000257.4(MYH7):c.5279C>G (p.Thr1760Arg)	LOC126861897, MYH7 (T1760R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GLikely pathogenic
Select item 665998	NM_000257.4(MYH7):c.5279C>A (p.Thr1760Lys)	LOC126861897, MYH7 (T1760K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 180024	NM_000257.4(MYH7):c.5279C>T (p.Thr1760Met)	LOC126861897, MYH7 (T1760M)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 569627	NM_000257.4(MYH7):c.5258AGAAGGCCA[3] (p.Lys1756_Ala1758dup)	LOC126861897, MYH7	Microsatellite (inframe_insertion)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 856253	NM_000257.4(MYH7):c.5258AGAAGGCCA[1] (p.Lys1756_Ala1758del)	LOC126861897, MYH7	Microsatellite (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 570534	NM_000257.4(MYH7):c.5272G>A (p.Ala1758Thr)	LOC126861897, MYH7 (A1758T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 237437	NM_000257.4(MYH7):c.5272G>T (p.Ala1758Ser)	LOC126861897, MYH7 (A1758S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 1498749	NM_000257.4(MYH7):c.5270A>G (p.Lys1757Arg)	LOC126861897, MYH7 (K1757R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 3075207	NM_000257.4(MYH7):c.5267A>G (p.Lys1756Arg)	LOC126861897, MYH7 (K1756R)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2913085	NM_000257.4(MYH7):c.5257_5265dup (p.Ala1755_Lys1756insGluLysAla)	LOC126861897, MYH7	Duplication (inframe_insertion)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1331882	NM_000257.4(MYH7):c.5265C>A (p.Ala1755=)	LOC126861897, MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy +1 more	GLikely benign
Select item 181276	NM_000257.4(MYH7):c.5263G>T (p.Ala1755Ser)	LOC126861897, MYH7 (A1755S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2160322	NM_000257.4(MYH7):c.5262G>A (p.Lys1754=)	LOC126861897, MYH7	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 1398263	NM_000257.4(MYH7):c.5261A>T (p.Lys1754Met)	LOC126861897, MYH7 (K1754M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1371512	NM_000257.4(MYH7):c.5254GAG[1] (p.Glu1753del)	LOC126861897, MYH7 (E1753del)	Microsatellite (inframe_deletion)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 181275	NM_000257.4(MYH7):c.5255A>G (p.Glu1752Gly)	LOC126861897, MYH7 (E1752G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 181395	NM_000257.4(MYH7):c.5254G>A (p.Glu1752Lys)	LOC126861897, MYH7 (E1752K)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 378879	NM_000257.4(MYH7):c.5253T>C (p.Ala1751=)	LOC126861897, MYH7	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 3017077	NM_000257.4(MYH7):c.5252C>A (p.Ala1751Asp)	LOC126861897, MYH7 (A1751D)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 834109	NM_000257.4(MYH7):c.5251G>A (p.Ala1751Thr)	LOC126861897, MYH7 (A1751T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 1415966	NM_000257.4(MYH7):c.5248A>G (p.Asn1750Asp)	LOC126861897, MYH7 (N1750D)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 645547	NM_000257.4(MYH7):c.5245A>G (p.Arg1749Gly)	LOC126861897, MYH7 (R1749G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 264079	NM_000257.4(MYH7):c.5245A>C (p.Arg1749=)	LOC126861897, MYH7	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 180440	NM_000257.4(MYH7):c.5243G>A (p.Cys1748Tyr)	LOC126861897, MYH7 (C1748Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 2433925	NM_000257.4(MYH7):c.5239del (p.Glu1747fs)	LOC126861897, MYH7 (E1747fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1879269	NM_000257.4(MYH7):c.5239G>A (p.Glu1747Lys)	LOC126861897, MYH7 (E1747K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 965558	NM_000257.4(MYH7):c.5234T>C (p.Val1745Ala)	LOC126861897, MYH7 (V1745A)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3070745	NM_000257.4(MYH7):c.5229G>A (p.Glu1743=)	LOC126861897, MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 181274	NM_000257.4(MYH7):c.5229G>T (p.Glu1743Asp)	LOC126861897, MYH7 (E1743D)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +9 more	GUncertain significance
Select item 853307	NM_000257.4(MYH7):c.5228A>G (p.Glu1743Gly)	LOC126861897, MYH7 (E1743G)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 3071165	NM_000257.4(MYH7):c.5225A>G (p.Glu1742Gly)	LOC126861897, MYH7 (E1742G)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 640111	NM_000257.4(MYH7):c.5222T>C (p.Val1741Ala)	LOC126861897, MYH7 (V1741A)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1331928	NM_000257.4(MYH7):c.5221del (p.Val1741fs)	LOC126861897, MYH7 (V1741fs)	Deletion (frameshift variant)	Cardiomyopathy	GUncertain significance
Select item 935790	NM_000257.4(MYH7):c.5221G>A (p.Val1741Met)	LOC126861897, MYH7 (V1741M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 945029	NM_000257.4(MYH7):c.5216C>T (p.Thr1739Ile)	LOC126861897, MYH7 (T1739I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2579453	NM_000257.4(MYH7):c.5215A>C (p.Thr1739Pro)	LOC126861897, MYH7 (T1739P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2089018	NM_000257.4(MYH7):c.5208G>A (p.Gln1736=)	LOC126861897, MHRT +1 more	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy	GLikely benign
Select item 312891	NM_000257.4(MYH7):c.5208G>C (p.Gln1736His)	LOC126861897, MHRT +1 more (Q1736H)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy 1 +5 more	GUncertain significance
Select item 181273	NM_000257.4(MYH7):c.5206C>T (p.Gln1736Ter)	LOC126861897, MHRT +1 more (Q1736*)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2710739	NM_000257.4(MYH7):c.5205C>G (p.Ser1735=)	LOC126861897, MHRT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy	GLikely benign
Select item 1531561	NM_000257.4(MYH7):c.5205C>T (p.Ser1735=)	LOC126861897, MHRT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy	GLikely benign
Select item 1438611	NM_000257.4(MYH7):c.5204C>T (p.Ser1735Phe)	LOC126861897, MHRT +1 more (S1735F)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 181272	NM_000257.4(MYH7):c.5203T>A (p.Ser1735Thr)	LOC126861897, MHRT +1 more (S1735T)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy 1 +9 more	GUncertain significance
Select item 1746042	NM_000257.4(MYH7):c.5202G>C (p.Leu1734=)	LOC126861897, MHRT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 2433924	NM_000257.4(MYH7):c.5201T>G (p.Leu1734Arg)	LOC126861897, MHRT +1 more (L1734R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2433937	NM_000257.4(MYH7):c.5194G>C (p.Ala1732Pro)	LOC126861897, MHRT +1 more (A1732P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance

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