C3495498[trait identifier] AND "Phosphorus, Inc."[submitter] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 8608	NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln)	MYBPC3 (E542Q)	Single nucleotide variant (missense variant)	not provided +8 more	GPathogenic
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 180024	NM_000257.4(MYH7):c.5279C>T (p.Thr1760Met)	LOC126861897, MYH7 (T1760M)	Single nucleotide variant (missense variant)	MYH7-related skeletal myopathy +9 more	GConflicting classifications of pathogenicity
Select item 191728	NM_000257.4(MYH7):c.4321G>T (p.Ala1441Ser)	MHRT, MYH7 (A1441S)	Single nucleotide variant (non-coding transcript variant +1 more)	Left ventricular noncompaction cardiomyopathy +13 more	GUncertain significance
Select item 919218	NM_000257.4(MYH7):c.3100-2A>C	MYH7	Single nucleotide variant (splice acceptor variant)	Congenital myopathy with fiber type disproportion +10 more	GConflicting classifications of pathogenicity
Select item 164324	NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys)	LOC126861898, MYH7 (R858C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +10 more	GPathogenic/Likely pathogenic
Select item 164337	NM_000257.4(MYH7):c.2302G>A (p.Gly768Arg)	LOC126861898, MYH7 (G768R)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 164342	NM_000257.4(MYH7):c.2207T>C (p.Ile736Thr)	MYH7 (I736T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 14104	NM_000257.4(MYH7):c.2155C>T (p.Arg719Trp)	MYH7 (R719W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 177625	NM_000257.4(MYH7):c.1727A>G (p.His576Arg)	MYH7 (H576R)	Single nucleotide variant (missense variant)	Cardiomyopathy +9 more	GPathogenic/Likely pathogenic
Select item 701138	NM_000257.4(MYH7):c.1368C>T (p.Phe456=)	MYH7	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 14087	NM_000257.4(MYH7):c.1208G>A (p.Arg403Gln)	MYH7 (R403Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 14088	NM_000257.4(MYH7):c.746G>A (p.Arg249Gln)	MYH7 (R249Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +9 more	GPathogenic/Likely pathogenic
Select item 181322	NM_000257.4(MYH7):c.745C>G (p.Arg249Gly)	MYH7 (R249G)	Single nucleotide variant (missense variant)	MYH7-related skeletal myopathy +5 more	GConflicting classifications of pathogenicity
Select item 14126	NM_000257.4(MYH7):c.728G>A (p.Arg243His)	MYH7 (R243H)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance FDA Recognized database