"ClinGen Congenital Myopathies Variant Curation Expert Panel, ClinGen" - 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 132987	NM_000540.3(RYR1):c.-108T>C	RYR1	Single nucleotide variant (5 prime UTR variant)	RYR1-related myopathy	GBenign FDA Recognized database
Select item 256586	NM_000540.3(RYR1):c.958-11del	RYR1	Deletion (intron variant)	RYR1-related myopathy	GLikely benign FDA Recognized database
Select item 93243	NM_000540.3(RYR1):c.1077T>C (p.Ala359=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-related myopathy	GBenign FDA Recognized database
Select item 1253809	NM_000540.3(RYR1):c.8310+1G>T	RYR1	Single nucleotide variant (splice donor variant)	RYR1-related myopathy	GPathogenic FDA Recognized database
Select item 133224	NM_000540.3(RYR1):c.8400+28A>G	LOC126862902, RYR1	Single nucleotide variant (intron variant)	RYR1-related myopathy	GBenign FDA Recognized database
Select item 93300	NM_000540.3(RYR1):c.8589T>C (p.Ser2863=)	LOC126862902, RYR1	Single nucleotide variant (synonymous variant)	RYR1-related myopathy	GBenign FDA Recognized database
Select item 642707	NM_000540.3(RYR1):c.8888T>C (p.Leu2963Pro)	RYR1 (L2963P)	Single nucleotide variant (missense variant)	RYR1-related myopathy	GPathogenic FDA Recognized database
Select item 329085	NM_000540.3(RYR1):c.9093C>T (p.Ala3031=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-related myopathy	GLikely benign FDA Recognized database
Select item 451330	NM_000540.3(RYR1):c.9472+1G>A	RYR1	Single nucleotide variant (splice donor variant)	RYR1-related myopathy	GPathogenic FDA Recognized database
Select item 256386	NM_000540.3(RYR1):c.10048C>A (p.Arg3350=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-related myopathy	GLikely benign FDA Recognized database
Select item 2710027	NM_000540.3(RYR1):c.10171G>T (p.Glu3391Ter)	RYR1 (E3391*)	Single nucleotide variant (nonsense)	RYR1-related myopathy	GLikely pathogenic FDA Recognized database
Select item 12996	NM_000540.3(RYR1):c.13013_13032del (p.Ala4338fs)	RYR1 (A4333fs)	Deletion (frameshift variant)	RYR1-related myopathy	GPathogenic FDA Recognized database