C4552004[trait identifier] AND "Neurogenetics Laboratory, Royal Perth - ClinVar - NCBI

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Items: 15

	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 43069	NM_000257.4(MYH7):c.5401G>A (p.Glu1801Lys)	MYH7 (E1801K)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GLikely pathogenic FDA Recognized database
Select item 143218	NM_000257.4(MYH7):c.5378_5380del (p.Leu1793del)	MYH7 (L1793del)	Deletion (inframe_deletion)	Dilated cardiomyopathy 1S +1 more	GPathogenic
Select item 143217	NM_000257.4(MYH7):c.5177AGA[5] (p.Lys1729dup)	LOC126861897, MHRT +1 more	Microsatellite (non-coding transcript variant +1 more)	MYH7-related skeletal myopathy	GPathogenic
Select item 143216	NM_000257.4(MYH7):c.5005_5007del (p.Glu1669del)	LOC126861897, MHRT +1 more (E1669del)	Deletion (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 143215	NM_000257.4(MYH7):c.4985G>C (p.Arg1662Pro)	LOC126861897, MHRT +1 more (R1662P)	Single nucleotide variant (non-coding transcript variant +1 more)	MYH7-related disorder +1 more	GUncertain significance
Select item 143214	NM_000257.4(MYH7):c.4937T>C (p.Leu1646Pro)	LOC126861897, MHRT +1 more (L1646P)	Single nucleotide variant (non-coding transcript variant +1 more)	Myosin storage myopathy +1 more	GPathogenic
Select item 143219	NM_000257.4(MYH7):c.4906G>C (p.Ala1636Pro)	LOC126861897, MHRT +1 more (A1636P)	Single nucleotide variant (non-coding transcript variant +1 more)	MYH7-related skeletal myopathy	GPathogenic
Select item 190401	NM_000257.4(MYH7):c.4844AGA[2] (p.Lys1617del)	LOC126861897, MHRT +1 more (K1617del)	Microsatellite (inframe_deletion +1 more)	MYH7-related skeletal myopathy +3 more	GPathogenic/Likely pathogenic
Select item 143213	NM_000257.4(MYH7):c.4835T>C (p.Leu1612Pro)	LOC126861897, MHRT +1 more (L1612P)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy +1 more	GLikely pathogenic
Select item 143212	NM_000257.4(MYH7):c.4823G>C (p.Arg1608Pro)	LOC126861897, MHRT +1 more (R1608P)	Single nucleotide variant (non-coding transcript variant +1 more)	MYH7-related skeletal myopathy	GPathogenic
Select item 143211	NM_000257.4(MYH7):c.4795A>C (p.Thr1599Pro)	LOC126861897, MHRT +1 more (T1599P)	Single nucleotide variant (non-coding transcript variant +1 more)	MYH7-related skeletal myopathy	GPathogenic
Select item 143210	NM_000257.4(MYH7):c.4622A>C (p.Gln1541Pro)	MHRT, MYH7 (Q1541P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 43023	NM_000257.3(MYH7):c.4522_4524del	MHRT, MYH7	Microsatellite (splice acceptor variant +1 more)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 143209	NM_000257.4(MYH7):c.4442T>C (p.Leu1481Pro)	MHRT, MYH7 (L1481P)	Single nucleotide variant (non-coding transcript variant +1 more)	MYH7-related skeletal myopathy	GPathogenic