"Fulgent Genetics, Fulgent Genetics"[submitter] AND "LOC126861897"[gen - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	not provided +11 more	GUncertain significance
Select item 138384	NM_000257.4(MYH7):c.5283+19C>T	LOC126861897, MYH7	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +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)	Hypertrophic 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 1 +8 more	GUncertain significance
Select item 454387	NM_000257.4(MYH7):c.5157G>A (p.Gln1719=)	LOC126861897, MHRT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy +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)	not provided +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)	Hypertrophic cardiomyopathy +10 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)	Cardiovascular phenotype +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)	Primary dilated cardiomyopathy +10 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)	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 +10 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)	Hypertrophic cardiomyopathy +7 more	GLikely benign
Select item 927631	NM_000257.4(MYH7):c.4953+4C>T	MHRT, LOC126861897 +1 more	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1S +6 more	GUncertain significance
Select item 432229	NM_000257.4(MYH7):c.4916C>T (p.Ala1639Val)	MHRT, MYH7 +1 more (A1639V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +8 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)	not provided +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)	Hypertrophic cardiomyopathy +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)	not specified +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)	Cardiomyopathy +9 more	GUncertain significance
Select item 927894	NM_000257.4(MYH7):c.4819A>G (p.Ser1607Gly)	LOC126861897, MHRT +1 more (S1607G)	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1S +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)	Hypertrophic cardiomyopathy 1 +12 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)	Hypertrophic cardiomyopathy +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)	Cardiomyopathy +9 more	GUncertain significance
Select item 660218	NM_000257.4(MYH7):c.4756G>A (p.Ala1586Thr)	MHRT, LOC126861897 +1 more (A1586T)	Single nucleotide variant (non-coding transcript variant +1 more)	Conduction disorder of the heart +9 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)	Cardiomyopathy +9 more	GConflicting classifications of pathogenicity

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Items: 32