C0546264[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 4491	NM_020451.3(SELENON):c.1A>G (p.Met1Val)	SELENON (M1V)	Single nucleotide variant (missense variant +1 more)	Congenital myopathy with fiber type disproportion +2 more	GPathogenic/Likely pathogenic
Select item 426515	NM_020451.3(SELENON):c.4G>T (p.Gly2Cys)	SELENON (G2C)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 461633	NM_020451.3(SELENON):c.402_403+2del	SELENON	Deletion (splice donor variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 212148	NM_020451.3(SELENON):c.415G>A (p.Ala139Thr)	SELENON (A139T +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 4494	NM_020451.3(SELENON):c.713dup (p.Asn238fs)	SELENON (N238fs +1 more)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 280026	NM_020451.3(SELENON):c.872G>A (p.Arg291Gln)	SELENON (R291Q +1 more)	Single nucleotide variant (missense variant)	See cases +3 more	GPathogenic/Likely pathogenic
Select item 4496	NM_020451.3(SELENON):c.943G>A (p.Gly315Ser)	SELENON (G315S +1 more)	Single nucleotide variant (missense variant)	SELENON-related myopathy +5 more	GPathogenic/Likely pathogenic
Select item 1443358	NM_020451.3(SELENON):c.988C>T (p.Arg330Trp)	SELENON (R296W +1 more)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy +2 more	GUncertain significance
Select item 261278	NM_020451.3(SELENON):c.1645G>A (p.Val549Met)	SELENON (V549M +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 281048	NM_020451.3(SELENON):c.1715C>A (p.Thr572Asn)	SELENON (T572N +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 262625	NM_152263.4(TPM3):c.566+18C>G	TPM3	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 18283	NM_001100.4(ACTA1):c.782A>T (p.Glu261Val)	ACTA1 (E261V)	Single nucleotide variant (missense variant)	Congenital myopathy with fiber type disproportion +4 more	GPathogenic/Likely pathogenic
Select item 257445	NM_001100.4(ACTA1):c.453C>A (p.Thr151=)	ACTA1	Single nucleotide variant (synonymous variant)	Congenital myopathy with fiber type disproportion +5 more	GBenign/Likely benign
Select item 94125	NM_003289.4(TPM2):c.773-4_773-3dup	TPM2	Duplication (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 1565934	NM_003289.4(TPM2):c.564-20_564-19dup	TPM2	Duplication (intron variant)	Congenital myopathy with fiber type disproportion +2 more	GBenign/Likely benign
Select item 407171	NM_000257.4(MYH7):c.5774G>A (p.Arg1925His)	MYH7 (R1925H)	Single nucleotide variant (missense variant)	Cardiomyopathy +8 more	GUncertain significance
Select item 571738	NM_000257.4(MYH7):c.5737G>A (p.Ala1913Thr)	MYH7 (A1913T)	Single nucleotide variant (missense variant)	not provided +9 more	GUncertain significance
Select item 1435850	NM_000257.4(MYH7):c.5672C>T (p.Thr1891Ile)	MYH7 (T1891I)	Single nucleotide variant (missense variant)	Myopathy, myosin storage, autosomal recessive +6 more	GUncertain significance
Select item 925746	NM_000257.4(MYH7):c.5671A>G (p.Thr1891Ala)	MYH7 (T1891A)	Single nucleotide variant (missense variant)	Cardiomyopathy +9 more	GUncertain significance
Select item 181165	NM_000257.4(MYH7):c.5661G>A (p.Glu1887=)	MYH7	Single nucleotide variant (synonymous variant)	Myopathy, myosin storage, autosomal recessive +9 more	GBenign/Likely benign
Select item 516360	NM_000257.4(MYH7):c.5656-4G>A	MYH7	Single nucleotide variant (intron variant)	not specified +9 more	GLikely benign
Select item 510983	NM_000257.4(MYH7):c.5656-9C>T	MYH7	Single nucleotide variant (intron variant)	Cardiomyopathy +9 more	GLikely benign
Select item 14121	NM_000257.4(MYH7):c.5647G>A (p.Glu1883Lys)	MYH7 (E1883K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance FDA Recognized database
Select item 386841	NM_000257.4(MYH7):c.5638C>T (p.Arg1880Cys)	MYH7 (R1880C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GUncertain significance
Select item 181288	NM_000257.4(MYH7):c.5606A>G (p.Asp1869Gly)	MYH7 (D1869G)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1S +10 more	GUncertain significance
Select item 43076	NM_000257.4(MYH7):c.5588G>A (p.Arg1863Gln)	MYH7 (R1863Q)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance FDA Recognized database
Select item 918220	NM_000257.4(MYH7):c.5587C>T (p.Arg1863Trp)	MYH7 (R1863W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +8 more	GUncertain significance
Select item 518701	NM_000257.4(MYH7):c.5559+5G>A	MYH7	Single nucleotide variant (intron variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 1104244	NM_000257.4(MYH7):c.5533C>A (p.Arg1845=)	MYH7	Single nucleotide variant (synonymous variant)	Myosin storage myopathy +6 more	GLikely benign
Select item 181285	NM_000257.4(MYH7):c.5530G>A (p.Glu1844Lys)	MYH7 (E1844K)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance FDA Recognized database
Select item 161322	NM_000257.4(MYH7):c.5494C>T (p.Arg1832Cys)	MYH7 (R1832C)	Single nucleotide variant (missense variant)	Cardiomyopathy +10 more	GUncertain significance
Select item 653905	NM_000257.4(MYH7):c.5470_5471delinsGG (p.Asn1824Gly)	MYH7 (N1824G)	Indel (missense variant)	Cardiovascular phenotype +10 more	GUncertain significance
Select item 1284652	NM_000257.4(MYH7):c.5470A>G (p.Asn1824Asp)	MYH7 (N1824D)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GUncertain significance
Select item 419278	NM_000257.4(MYH7):c.5459G>A (p.Arg1820Gln)	MYH7 (R1820Q)	Single nucleotide variant (missense variant)	not provided +10 more	GConflicting classifications of pathogenicity
Select item 569842	NM_000257.4(MYH7):c.5458C>G (p.Arg1820Gly)	MYH7 (R1820G)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GUncertain significance
Select item 181282	NM_000257.4(MYH7):c.5458C>T (p.Arg1820Trp)	MYH7 (R1820W)	Single nucleotide variant (missense variant)	Myosin storage myopathy	GUncertain significance FDA Recognized database
Select item 217826	NM_000257.4(MYH7):c.5452C>T (p.Arg1818Trp)	MYH7 (R1818W)	Single nucleotide variant (missense variant)	Cardiomyopathy +9 more	GUncertain significance
Select item 217468	NM_000257.4(MYH7):c.5422G>A (p.Gly1808Ser)	MYH7 (G1808S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance FDA Recognized database
Select item 626809	NM_000257.4(MYH7):c.5386C>T (p.Arg1796Trp)	MYH7 (R1796W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +9 more	GUncertain significance
Select item 43064	NM_000257.4(MYH7):c.5342G>A (p.Arg1781His)	MYH7 (R1781H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance FDA Recognized database
Select item 177697	NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr)	MYH7 (A1777T)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance FDA Recognized database
Select item 177629	NM_000257.4(MYH7):c.5326A>G (p.Ser1776Gly)	MYH7 (S1776G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance FDA Recognized database
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 177846	NM_000257.4(MYH7):c.5287G>A (p.Ala1763Thr)	LOC126861897, MYH7 (A1763T)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1S +11 more	GUncertain significance
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 181274	NM_000257.4(MYH7):c.5229G>T (p.Glu1743Asp)	LOC126861897, MYH7 (E1743D)	Single nucleotide variant (missense variant)	Cardiomyopathy +9 more	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)	not provided +9 more	GUncertain significance
Select item 43058	NM_000257.4(MYH7):c.5192A>T (p.Asp1731Val)	LOC126861897, MHRT +1 more (D1731V)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy +8 more	GUncertain significance
Select item 454387	NM_000257.4(MYH7):c.5157G>A (p.Gln1719=)	LOC126861897, MHRT +1 more	Single nucleotide variant (synonymous variant +1 more)	Myopathy, myosin storage, autosomal recessive +6 more	GUncertain significance
Select item 36642	NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln)	LOC126861897, MHRT +1 more (R1712Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 43056	NM_000257.4(MYH7):c.5106G>A (p.Ala1702=)	LOC126861897, MHRT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GBenign FDA Recognized database
Select item 519115	NM_000257.4(MYH7):c.5066G>A (p.Arg1689His)	LOC126861897, MHRT +1 more (R1689H)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy +9 more	GUncertain significance
Select item 181394	NM_000257.4(MYH7):c.5065C>T (p.Arg1689Cys)	LOC126861897, MHRT +1 more (R1689C)	Single nucleotide variant (non-coding transcript variant +1 more)	Myopathy, myosin storage, autosomal recessive +9 more	GUncertain significance
Select item 1388062	NM_000257.4(MYH7):c.5037C>G (p.Asn1679Lys)	LOC126861897, MHRT +1 more (N1679K)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy +8 more	GUncertain significance
Select item 181393	NM_000257.4(MYH7):c.5030G>A (p.Arg1677His)	LOC126861897, MHRT +1 more (R1677H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +11 more	GUncertain significance
Select item 312892	NM_000257.4(MYH7):c.5026C>T (p.Arg1676Trp)	LOC126861897, MHRT +1 more (R1676W)	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1S +9 more	GUncertain significance
Select item 449317	NM_000257.4(MYH7):c.4979C>A (p.Ala1660Glu)	LOC126861897, MHRT +1 more (A1660E)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy +8 more	GUncertain significance
Select item 43047	NM_000257.4(MYH7):c.4954G>T (p.Asp1652Tyr)	LOC126861897, MHRT +1 more (D1652Y)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +9 more	GUncertain significance
Select item 1632367	NM_000257.4(MYH7):c.4953+14G>A	LOC126861897, MHRT +1 more	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +6 more	GLikely benign
Select item 43046	NM_000257.4(MYH7):c.4953+13A>T	LOC126861897, MHRT +1 more	Single nucleotide variant (intron variant)	Myopathy, myosin storage, autosomal recessive +7 more	GLikely benign
Select item 927631	NM_000257.4(MYH7):c.4953+4C>T	LOC126861897, MHRT +1 more	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 1 +6 more	GUncertain significance
Select item 432229	NM_000257.4(MYH7):c.4916C>T (p.Ala1639Val)	LOC126861897, MHRT +1 more (A1639V)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy 1 +9 more	GUncertain significance
Select item 181269	NM_000257.4(MYH7):c.4904T>C (p.Met1635Thr)	LOC126861897, MHRT +1 more (M1635T)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy +9 more	GUncertain significance
Select item 222730	NM_000257.4(MYH7):c.4901G>A (p.Arg1634His)	LOC126861897, MHRT +1 more (R1634H)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy +10 more	GUncertain significance
Select item 924864	NM_000257.4(MYH7):c.4894G>A (p.Ala1632Thr)	LOC126861897, MHRT +1 more (A1632T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +10 more	GUncertain significance
Select item 43040	NM_000257.4(MYH7):c.4834C>G (p.Leu1612Val)	LOC126861897, MHRT +1 more (L1612V)	Single nucleotide variant (non-coding transcript variant +1 more)	Myosin storage myopathy +6 more	GUncertain significance
Select item 181392	NM_000257.4(MYH7):c.4831G>T (p.Ala1611Ser)	LOC126861897, MHRT +1 more (A1611S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +9 more	GUncertain significance
Select item 927894	NM_000257.4(MYH7):c.4819A>G (p.Ser1607Gly)	MHRT, LOC126861897 +1 more (S1607G)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital myopathy with fiber type disproportion +7 more	GUncertain significance
Select item 181266	NM_000257.4(MYH7):c.4807G>A (p.Ala1603Thr)	LOC126861897, MHRT +1 more (A1603T)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy +9 more	GUncertain significance
Select item 43037	NM_000257.4(MYH7):c.4806C>T (p.Asp1602=)	LOC126861897, MHRT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +13 more	GBenign/Likely benign
Select item 583310	NM_000257.4(MYH7):c.4775G>A (p.Arg1592Gln)	LOC126861897, MHRT +1 more (R1592Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1S +7 more	GUncertain significance
Select item 181265	NM_000257.4(MYH7):c.4772T>A (p.Leu1591Gln)	LOC126861897, MHRT +1 more (L1591Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +9 more	GUncertain significance
Select item 660218	NM_000257.4(MYH7):c.4756G>A (p.Ala1586Thr)	LOC126861897, MHRT +1 more (A1586T)	Single nucleotide variant (non-coding transcript variant +1 more)	Conduction disorder of the heart +8 more	GUncertain significance
Select item 181262	NM_000257.4(MYH7):c.4679G>A (p.Arg1560Gln)	LOC126861897, MHRT +1 more (R1560Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy +9 more	GConflicting classifications of pathogenicity
Select item 181251	NM_000257.4(MYH7):c.4644+5G>C	MHRT, MYH7	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 1 +9 more	GUncertain significance
Select item 838150	NM_000257.4(MYH7):c.4643A>T (p.Glu1548Val)	MHRT, MYH7 (E1548V)	Single nucleotide variant (missense variant)	Myopathy, myosin storage, autosomal recessive +7 more	GUncertain significance
Select item 926826	NM_000257.4(MYH7):c.4641C>T (p.Ala1547=)	MHRT, MYH7	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +9 more	GBenign/Likely benign
Select item 43029	NM_000257.4(MYH7):c.4588C>T (p.Arg1530Ter)	MHRT, MYH7 (R1530*)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GUncertain significance FDA Recognized database
Select item 524970	NM_000257.4(MYH7):c.4567A>G (p.Ile1523Val)	MHRT, MYH7 (I1523V)	Single nucleotide variant (non-coding transcript variant +1 more)	Myopathy, myosin storage, autosomal recessive +6 more	GUncertain significance
Select item 188636	NM_000257.4(MYH7):c.4520-25C>T	MHRT, MYH7	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +8 more	GBenign/Likely benign
Select item 164284	NM_000257.4(MYH7):c.4498C>T (p.Arg1500Trp)	MHRT, MYH7 (R1500W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +9 more	GPathogenic/Likely pathogenic
Select item 1519269	NM_000257.4(MYH7):c.4461C>G (p.Ala1487=)	MHRT, MYH7	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 657077	NM_000257.4(MYH7):c.4440G>T (p.Glu1480Asp)	MHRT, MYH7 (E1480D)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +8 more	GUncertain significance
Select item 181256	NM_000257.4(MYH7):c.4423C>T (p.Arg1475Cys)	MHRT, MYH7 (R1475C)	Single nucleotide variant (non-coding transcript variant +1 more)	Myopathy, myosin storage, autosomal recessive +9 more	GUncertain significance
Select item 43012	NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn)	MHRT, MYH7 (K1459N)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GLikely benign FDA Recognized database
Select item 1273043	NM_000257.4(MYH7):c.4353+20C>T	MHRT, MYH7	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1S +7 more	GBenign/Likely benign
Select item 191728	NM_000257.4(MYH7):c.4321G>T (p.Ala1441Ser)	MHRT, MYH7 (A1441S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +13 more	GUncertain significance
Select item 453109	NM_000257.4(MYH7):c.4294G>A (p.Val1432Ile)	MHRT, MYH7 (V1432I)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy +10 more	GUncertain significance
Select item 164289	NM_000257.4(MYH7):c.4283T>C (p.Leu1428Ser)	MHRT, MYH7 (L1428S)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy	GUncertain significance FDA Recognized database
Select item 43003	NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp)	MYH7 (R1420W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GLikely pathogenic FDA Recognized database
Select item 920072	NM_000257.4(MYH7):c.4251C>G (p.Thr1417=)	MYH7	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +8 more	GLikely benign
Select item 43001	NM_000257.4(MYH7):c.4239G>A (p.Ser1413=)	MYH7	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1S +10 more	GBenign/Likely benign
Select item 181249	NM_000257.4(MYH7):c.4219G>A (p.Val1407Ile)	MYH7 (V1407I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +8 more	GUncertain significance
Select item 42996	NM_000257.4(MYH7):c.4188G>T (p.Arg1396=)	MYH7	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +11 more	GBenign/Likely benign
Select item 181245	NM_000257.4(MYH7):c.4170-8C>A	MYH7	Single nucleotide variant (intron variant)	Cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 42992	NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met)	MYH7 (T1377M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 647534	NM_000257.4(MYH7):c.4097C>T (p.Ser1366Leu)	MYH7 (S1366L)	Single nucleotide variant (missense variant)	Cardiomyopathy +8 more	GUncertain significance
Select item 414341	NM_000257.4(MYH7):c.4083T>G (p.Leu1361=)	MYH7	Single nucleotide variant (synonymous variant)	Congenital myopathy with fiber type disproportion +8 more	GLikely benign
Select item 42991	NM_000257.4(MYH7):c.4078G>A (p.Val1360Ile)	MYH7 (V1360I)	Single nucleotide variant (missense variant)	Cardiomyopathy +10 more	GConflicting classifications of pathogenicity
Select item 42990	NM_000257.4(MYH7):c.4077C>T (p.Arg1359=)	MYH7	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +11 more	GLikely benign

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