"Rady Children's Institute for Genomic Medicine, Rady Children's Hospi - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 133046	NM_000540.3(RYR1):c.131G>A (p.Arg44His)	RYR1 (R44H)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 133144	NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe)	RYR1 (S1728F)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely pathogenic FDA Recognized database
Select item 478250	NM_000540.3(RYR1):c.6274+1G>A	RYR1	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 159856	NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)	RYR1 (R2241*)	Single nucleotide variant (nonsense)	Congenital multicore myopathy with external ophthalmoplegia +8 more	GConflicting classifications of pathogenicity
Select item 590611	NM_000540.3(RYR1):c.8342_8343del (p.Ile2781fs)	LOC126862902, RYR1 (I2781fs)	Deletion (frameshift variant)	Congenital multicore myopathy with external ophthalmoplegia +7 more	GConflicting classifications of pathogenicity
Select item 132994	NM_000540.3(RYR1):c.10348-6C>G	RYR1	Single nucleotide variant (intron variant)	Centronuclear myopathy +9 more	GConflicting classifications of pathogenicity
Select item 590367	NM_000540.3(RYR1):c.10501dup (p.Asp3501fs)	RYR1 (D3496fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 133012	NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln)	RYR1 (R3772Q +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely pathogenic FDA Recognized database
Select item 650932	NM_000540.3(RYR1):c.11947C>T (p.Arg3983Cys)	RYR1 (R3978C +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 647148	NM_000540.3(RYR1):c.14667C>A (p.Tyr4889Ter)	RYR1 (Y4884* +1 more)	Single nucleotide variant (nonsense)	Central core myopathy +1 more	GPathogenic
Select item 65927	NM_000540.3(RYR1):c.14818G>A (p.Ala4940Thr)	RYR1 (A4940T +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 201154	NM_000540.3(RYR1):c.14928C>G (p.Phe4976Leu)	RYR1 (F4976L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity