C1840365[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 93277	NM_000540.3(RYR1):c.594A>G (p.Leu198=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder +7 more	GBenign/Likely benign
Select item 256531	NM_000540.3(RYR1):c.631+39dup	RYR1	Duplication (intron variant)	Congenital multicore myopathy with external ophthalmoplegia +4 more	GBenign/Likely benign
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 133065	NM_000540.3(RYR1):c.1441-24T>C	LOC129391106, RYR1	Single nucleotide variant (intron variant)	King Denborough syndrome +4 more	GBenign
Select item 93258	NM_000540.3(RYR1):c.1668G>A (p.Ser556=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder +8 more	GBenign
Select item 133107	NM_000540.3(RYR1):c.1672+29G>C	RYR1	Single nucleotide variant (intron variant)	King Denborough syndrome +4 more	GBenign
Select item 93259	NM_000540.3(RYR1):c.2286C>T (p.Pro762=)	RYR1	Single nucleotide variant (synonymous variant)	Central core myopathy +8 more	GBenign
Select item 93261	NM_000540.3(RYR1):c.2943G>A (p.Thr981=)	RYR1	Single nucleotide variant (synonymous variant)	not provided +8 more	GBenign
Select item 93287	NM_000540.3(RYR1):c.7500G>A (p.Ala2500=)	RYR1	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign
Select item 93288	NM_000540.3(RYR1):c.7527G>A (p.Val2509=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder +7 more	GBenign
Select item 93289	NM_000540.3(RYR1):c.7614+10C>G	RYR1	Single nucleotide variant (intron variant)	RYR1-related disorder +7 more	GBenign
Select item 93292	NM_000540.3(RYR1):c.7835+5A>G	RYR1	Single nucleotide variant (intron variant)	RYR1-related disorder +7 more	GBenign
Select item 93294	NM_000540.3(RYR1):c.7863C>T (p.His2621=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder +7 more	GBenign
Select item 133216	NM_000540.3(RYR1):c.7926+28A>G	RYR1	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 93296	NM_000540.3(RYR1):c.7977G>A (p.Thr2659=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder +8 more	GBenign
Select item 256570	NM_000540.3(RYR1):c.8068-29_8068-27del	RYR1	Microsatellite (intron variant)	Congenital multicore myopathy with external ophthalmoplegia +4 more	GBenign
Select item 93297	NM_000540.3(RYR1):c.8118T>C (p.Ile2706=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder +8 more	GBenign
Select item 93298	NM_000540.3(RYR1):c.8190T>C (p.Asp2730=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder +8 more	GBenign
Select item 93299	NM_000540.3(RYR1):c.8337G>A (p.Glu2779=)	LOC126862902, RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder +8 more	GBenign
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 133227	NM_000540.3(RYR1):c.8541+34C>T	LOC126862902, RYR1	Single nucleotide variant (intron variant)	King Denborough syndrome +4 more	GBenign
Select item 133228	NM_000540.3(RYR1):c.8541+37T>G	LOC126862902, RYR1	Single nucleotide variant (intron variant)	King Denborough syndrome +4 more	GBenign
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 133231	NM_000540.3(RYR1):c.8617-35C>T	RYR1	Single nucleotide variant (intron variant)	King Denborough syndrome +4 more	GBenign
Select item 133233	NM_000540.3(RYR1):c.8692+28T>G	RYR1	Single nucleotide variant (intron variant)	King Denborough syndrome +4 more	GBenign
Select item 93302	NM_000540.3(RYR1):c.8693-10G>C	RYR1	Single nucleotide variant (intron variant)	RYR1-related disorder +8 more	GBenign
Select item 93303	NM_000540.3(RYR1):c.8816+17T>A	RYR1	Single nucleotide variant (intron variant)	RYR1-related disorder +5 more	GBenign
Select item 133235	NM_000540.3(RYR1):c.8816+43A>C	RYR1	Single nucleotide variant (intron variant)	King Denborough syndrome +4 more	GBenign
Select item 256576	NM_000540.3(RYR1):c.8932+34dup	RYR1	Duplication (intron variant)	Congenital multicore myopathy with external ophthalmoplegia +4 more	GBenign
Select item 93306	NM_000540.3(RYR1):c.9186A>G (p.Pro3062=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder +7 more	GBenign
Select item 93240	NM_000540.3(RYR1):c.10218C>T (p.Tyr3406=)	RYR1	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign

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Items: 31