"Baylor Genetics"[submitter] AND "MYH7"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 43088	NM_000257.4(MYH7):c.5740G>A (p.Glu1914Lys)	MYH7 (E1914K)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GLikely pathogenic FDA Recognized database
Select item 378215	NM_000257.4(MYH7):c.5655G>A (p.Ala1885=)	MYH7	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1S +9 more	GConflicting classifications of pathogenicity
Select item 1024639	NM_000257.4(MYH7):c.5503G>C (p.Glu1835Gln)	MYH7 (E1835Q)	Single nucleotide variant (missense variant)	Myopathy, myosin storage, autosomal recessive +1 more	GUncertain significance
Select item 2582517	NM_000257.4(MYH7):c.5314G>A (p.Glu1772Lys)	MYH7 (E1772K)	Single nucleotide variant (missense variant)	Myopathy, myosin storage, autosomal recessive +4 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 1028642	NM_000257.4(MYH7):c.4361C>A (p.Ala1454Asp)	MHRT, MYH7 (A1454D)	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1S	GUncertain significance
Select item 2671917	NM_000257.4(MYH7):c.4309G>C (p.Ala1437Pro)	MHRT, MYH7 (A1437P)	Single nucleotide variant (non-coding transcript variant +1 more)	Myopathy, myosin storage, autosomal recessive +3 more	GLikely pathogenic
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 222726	NM_000257.4(MYH7):c.3830G>C (p.Arg1277Pro)	MYH7 (R1277P)	Single nucleotide variant (missense variant)	Myosin storage myopathy +4 more	GUncertain significance
Select item 228907	NM_000257.4(MYH7):c.3138G>A (p.Met1046Ile)	MYH7 (M1046I)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1031478	NM_000257.4(MYH7):c.2951G>T (p.Gly984Val)	MYH7 (G984V)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1S	GUncertain significance
Select item 164312	NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln)	MYH7 (E930Q)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1S +9 more	GPathogenic/Likely pathogenic
Select item 164316	NM_000257.4(MYH7):c.2710C>T (p.Arg904Cys)	MYH7 (R904C)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GPathogenic FDA Recognized database
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 42901	NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)	LOC126861898, MYH7 (A797T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +18 more	GPathogenic/Likely pathogenic
Select item 14091	NM_000257.4(MYH7):c.1816G>A (p.Val606Met)	MYH7 (V606M)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +9 more	GPathogenic/Likely pathogenic
Select item 179272	NM_000257.4(MYH7):c.1141G>A (p.Ala381Thr)	MYH7 (A381T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance FDA Recognized database
Select item 42822	NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln)	MYH7 (R369Q)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GLikely pathogenic FDA Recognized database
Select item 3238758	NM_000257.4(MYH7):c.805G>A (p.Glu269Lys)	MYH7 (E269K)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1S +3 more	GUncertain significance
Select item 43102	NM_000257.4(MYH7):c.732+1del	MYH7	Deletion (splice donor variant)	Hypertrophic cardiomyopathy 1 +5 more	GPathogenic/Likely pathogenic
Select item 43096	NM_000257.4(MYH7):c.706G>A (p.Val236Ile)	MYH7 (V236I)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 237442	NM_000257.4(MYH7):c.625C>A (p.Gln209Lys)	MYH7 (Q209K)	Single nucleotide variant (missense variant)	Myopathy, myosin storage, autosomal recessive +6 more	GUncertain significance
Select item 43095	NM_000257.4(MYH7):c.611G>A (p.Arg204His)	MYH7 (R204H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GPathogenic/Likely pathogenic
Select item 619082	NM_000257.4(MYH7):c.541G>A (p.Gly181Arg)	MYH7 (G181R)	Single nucleotide variant (missense variant)	Myopathy, myosin storage, autosomal recessive +9 more	GConflicting classifications of pathogenicity
Select item 862006	NM_000257.4(MYH7):c.345+1G>A	MYH7	Single nucleotide variant (splice donor variant)	MYH7-related skeletal myopathy +8 more	GUncertain significance
Select item 43050	NM_000257.4(MYH7):c.49C>T (p.Arg17Cys)	MYH7 (R17C)	Single nucleotide variant (missense variant)	MYH7-related skeletal myopathy +8 more	GUncertain significance
Select item 625814	GRCh37/hg19 14q11.2-12(chr14:19100682-28730087)	ARHGEF40, BCL2L2 +152 more	Copy number gain	not provided	GPathogenic

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Items: 27