C1850709[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 378215	NM_000257.4(MYH7):c.5655G>A (p.Ala1885=)	MYH7	Single nucleotide variant (synonymous variant)	not provided +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)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2582517	NM_000257.4(MYH7):c.5314G>A (p.Glu1772Lys)	MYH7 (E1772K)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1S +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)	Hypertrophic cardiomyopathy +10 more	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 164312	NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln)	MYH7 (E930Q)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1S +10 more	GPathogenic/Likely pathogenic
Select item 164324	NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys)	LOC126861898, MYH7 (R858C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +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)	Hypertrophic cardiomyopathy 1 +18 more	GPathogenic/Likely pathogenic
Select item 14091	NM_000257.4(MYH7):c.1816G>A (p.Val606Met)	MYH7 (V606M)	Single nucleotide variant (missense variant)	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 43102	NM_000257.4(MYH7):c.732+1del	MYH7	Deletion (splice donor variant)	Myosin storage myopathy +6 more	GConflicting classifications of pathogenicity
Select item 237442	NM_000257.4(MYH7):c.625C>A (p.Gln209Lys)	MYH7 (Q209K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +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	GConflicting classifications of pathogenicity
Select item 619082	NM_000257.4(MYH7):c.541G>A (p.Gly181Arg)	MYH7 (G181R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +9 more	GConflicting classifications of pathogenicity
Select item 862006	NM_000257.4(MYH7):c.345+1G>A	MYH7	Single nucleotide variant (splice donor variant)	Cardiomyopathy +8 more	GUncertain significance
Select item 43050	NM_000257.4(MYH7):c.49C>T (p.Arg17Cys)	MYH7 (R17C)	Single nucleotide variant (missense variant)	Cardiomyopathy +8 more	GUncertain significance