prunus murayama - ClinVar - NCBI

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Items: 15

The following term was not found in ClinVar: prunus.
Showing results for Prunus murrayana. Your search for Prunus murrayana retrieved no results.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1935	NM_020166.5(MCCC1):c.1380T>G (p.Ile460Met)	MCCC1 (I460M +2 more)	Single nucleotide variant (missense variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GPathogenic
Select item 189488	NM_000314.8(PTEN):c.437T>A (p.Leu146Ter)	PTEN (L146* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 411653	NM_001134363.3(RBM20):c.1900C>T (p.Arg634Trp)	RBM20 (R634W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GPathogenic
Select item 202074	NM_001134363.3(RBM20):c.3091G>T (p.Gly1031Ter)	RBM20 (G1031*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 418455	NM_001134363.3(RBM20):c.3616G>A (p.Glu1206Lys)	RBM20 (E1206K)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 15746	NM_000558.3(HBA1):c.49A>G (p.Lys17Glu)	HBA1, LOC106804613 (K17E)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 12964	NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys)	RYR1 (R614C)	Single nucleotide variant (missense variant)	succinylcholine response - Toxicity +7 more	GPathogenic; drug response FDA Recognized database
Select item 12973	NM_000540.3(RYR1):c.6487C>T (p.Arg2163Cys)	RYR1 (R2163C)	Single nucleotide variant (missense variant)	succinylcholine response - Toxicity +7 more	GPathogenic; drug response FDA Recognized database
Select item 12976	NM_000540.3(RYR1):c.6502G>A (p.Val2168Met)	RYR1 (V2168M)	Single nucleotide variant (missense variant)	succinylcholine response - Toxicity +7 more	GPathogenic; drug response FDA Recognized database
Select item 12977	NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met)	RYR1 (T2206M)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GPathogenic FDA Recognized database
Select item 12966	NM_000540.3(RYR1):c.7304G>A (p.Arg2435His)	RYR1 (R2435H)	Single nucleotide variant (missense variant)	succinylcholine response - Toxicity +7 more	GPathogenic; drug response FDA Recognized database
Select item 133202	NM_000540.3(RYR1):c.7360C>T (p.Arg2454Cys)	RYR1 (R2454C)	Single nucleotide variant (missense variant)	succinylcholine response - Toxicity +7 more	GPathogenic; drug response FDA Recognized database
Select item 65980	NM_000540.3(RYR1):c.7361G>A (p.Arg2454His)	RYR1 (R2454H)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +7 more	GPathogenic; drug response FDA Recognized database
Select item 12971	NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys)	RYR1 (R2458C)	Single nucleotide variant (missense variant)	succinylcholine response - Toxicity +7 more	GLikely pathogenic; drug response FDA Recognized database
Select item 12972	NM_000540.3(RYR1):c.7373G>A (p.Arg2458His)	RYR1 (R2458H)	Single nucleotide variant (missense variant)	succinylcholine response - Toxicity +6 more	Gdrug response