C1850674[trait identifier] AND "Pediatric Department, Peking Universit - ClinVar - NCBI

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

Search results

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 870622	NM_000540.3(RYR1):c.658C>T (p.Arg220Cys)	RYR1 (R220C)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia +1 more	GConflicting classifications of pathogenicity
Select item 861815	NM_000540.3(RYR1):c.839G>A (p.Arg280Gln)	RYR1 (R280Q)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +2 more	GConflicting classifications of pathogenicity
Select item 870619	NM_000540.3(RYR1):c.3880G>T (p.Val1294Phe)	RYR1 (V1294F)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia	GLikely pathogenic
Select item 870620	NM_000540.3(RYR1):c.4454G>A (p.Ser1485Asn)	RYR1 (S1485N)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia +1 more	GConflicting classifications of pathogenicity
Select item 870621	NM_000540.3(RYR1):c.4715T>C (p.Met1572Thr)	RYR1 (M1572T)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia	GLikely pathogenic
Select item 870624	NM_000540.3(RYR1):c.7330C>T (p.Gln2444Ter)	RYR1 (Q2444*)	Single nucleotide variant (nonsense)	Congenital multicore myopathy with external ophthalmoplegia	GPathogenic
Select item 436627	NM_000540.3(RYR1):c.9571G>A (p.Gly3191Arg)	RYR1 (G3191R)	Single nucleotide variant (missense variant)	RYR1-related myopathy +5 more	GConflicting classifications of pathogenicity
Select item 1341375	NM_000540.3(RYR1):c.10729C>G (p.Arg3577Gly)	RYR1 (R3572G +1 more)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia	GLikely pathogenic
Select item 1011341	NM_000540.3(RYR1):c.12324G>C (p.Gln4108His)	RYR1 (Q4103H +1 more)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia +1 more	GUncertain significance
Select item 1341371	NM_000540.3(RYR1):c.12739_12750del (p.Ala4247_Ile4250del)	RYR1	Deletion (inframe_deletion)	Congenital multicore myopathy with external ophthalmoplegia	GUncertain significance
Select item 218466	NM_000540.3(RYR1):c.13691G>A (p.Arg4564Gln)	RYR1 (R4564Q +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1341370	NM_000540.3(RYR1):c.13762C>T (p.Pro4588Ser)	RYR1 (P4583S +1 more)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia	GUncertain significance