"All of Us Research Program, National Institutes of Health"[submitter] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1650365	NM_000540.3(RYR1):c.8311-8A>G	LOC126862902, RYR1	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 1 +1 more	GLikely benign
Select item 478289	NM_000540.3(RYR1):c.8311-4C>T	LOC126862902, RYR1	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 1 +1 more	GConflicting classifications of pathogenicity
Select item 256573	NM_000540.3(RYR1):c.8313C>A (p.Ile2771=)	LOC126862902, RYR1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 3070102	NM_000540.3(RYR1):c.8322C>T (p.Asn2774=)	LOC126862902, RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign
Select item 696000	NM_000540.3(RYR1):c.8340C>T (p.Asn2780=)	LOC126862902, RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder +1 more	GLikely benign
Select item 1405915	NM_000540.3(RYR1):c.8347G>A (p.Glu2783Lys)	LOC126862902, RYR1 (E2783K)	Single nucleotide variant (missense variant)	RYR1-related myopathy +4 more	GUncertain significance
Select item 590612	NM_000540.3(RYR1):c.8347G>C (p.Glu2783Gln)	LOC126862902, RYR1 (E2783Q)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +1 more	GUncertain significance
Select item 590613	NM_000540.3(RYR1):c.8348A>T (p.Glu2783Val)	LOC126862902, RYR1 (E2783V)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +1 more	GUncertain significance
Select item 2878521	NM_000540.3(RYR1):c.8366C>T (p.Pro2789Leu)	LOC126862902, RYR1 (P2789L)	Single nucleotide variant (missense variant)	RYR1-related disorder +1 more	GUncertain significance
Select item 1700318	NM_000540.3(RYR1):c.8369T>A (p.Met2790Lys)	LOC126862902, RYR1 (M2790K)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +1 more	GUncertain significance
Select item 167620	NM_000540.3(RYR1):c.8376G>A (p.Arg2792=)	LOC126862902, RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1 +6 more	GBenign/Likely benign
Select item 934776	NM_000540.3(RYR1):c.8377C>A (p.Pro2793Thr)	LOC126862902, RYR1 (P2793T)	Single nucleotide variant (missense variant)	RYR1-related disorder +1 more	GUncertain significance
Select item 890999	NM_000540.3(RYR1):c.8377C>T (p.Pro2793Ser)	LOC126862902, RYR1 (P2793S)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia +7 more	GUncertain significance
Select item 1442245	NM_000540.3(RYR1):c.8378C>T (p.Pro2793Leu)	LOC126862902, RYR1 (P2793L)	Single nucleotide variant (missense variant)	RYR1-related disorder +2 more	GUncertain significance
Select item 1030862	NM_000540.3(RYR1):c.8382C>G (p.Tyr2794Ter)	LOC126862902, RYR1 (Y2794*)	Single nucleotide variant (nonsense)	Malignant hyperthermia, susceptibility to, 1 +2 more	GConflicting classifications of pathogenicity
Select item 1135978	NM_000540.3(RYR1):c.8388C>T (p.Thr2796=)	LOC126862902, RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1 +1 more	GLikely benign
Select item 2901591	NM_000540.3(RYR1):c.8394A>T (p.Ser2798=)	LOC126862902, RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3070174	NM_000540.3(RYR1):c.8401-9C>A	LOC126862902, RYR1	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 2732150	NM_000540.3(RYR1):c.8401-9C>T	LOC126862902, RYR1	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 1 +1 more	GLikely benign
Select item 1371870	NM_000540.3(RYR1):c.8416C>G (p.Arg2806Gly)	LOC126862902, RYR1 (R2806G)	Single nucleotide variant (missense variant)	RYR1-related disorder +1 more	GUncertain significance
Select item 425180	NM_000540.3(RYR1):c.8417G>A (p.Arg2806His)	LOC126862902, RYR1 (R2806H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2892143	NM_000540.3(RYR1):c.8439G>C (p.Leu2813=)	LOC126862902, RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder +1 more	GLikely benign
Select item 653550	NM_000540.3(RYR1):c.8441A>G (p.Lys2814Arg)	LOC126862902, RYR1 (K2814R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3069255	NM_000540.3(RYR1):c.8454C>T (p.Ala2818=)	LOC126862902, RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign
Select item 373926	NM_000540.3(RYR1):c.8463G>A (p.Trp2821Ter)	LOC126862902, RYR1 (W2821*)	Single nucleotide variant (nonsense)	Malignant hyperthermia, susceptibility to, 1 +1 more	GConflicting classifications of pathogenicity
Select item 3073244	NM_000540.3(RYR1):c.8468T>C (p.Ile2823Thr)	LOC126862902, RYR1 (I2823T)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3070869	NM_000540.3(RYR1):c.8480G>A (p.Arg2827Lys)	LOC126862902, RYR1 (R2827K)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3074554	NM_000540.3(RYR1):c.8507dup (p.Lys2837fs)	LOC126862902, RYR1 (K2837fs)	Duplication (frameshift variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 1085078	NM_000540.3(RYR1):c.8517G>A (p.Thr2839=)	LOC126862902, RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder +2 more	GLikely benign
Select item 3069702	NM_000540.3(RYR1):c.8518C>G (p.Arg2840Gly)	LOC126862902, RYR1 (R2840G)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 133226	NM_000540.3(RYR1):c.8518C>T (p.Arg2840Trp)	LOC126862902, RYR1 (R2840W)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GUncertain significance FDA Recognized database
Select item 931336	NM_000540.3(RYR1):c.8519G>A (p.Arg2840Gln)	LOC126862902, RYR1 (R2840Q)	Single nucleotide variant (missense variant)	Congenital myopathy with fiber type disproportion +1 more	GUncertain significance
Select item 3072606	NM_000540.3(RYR1):c.8521A>C (p.Lys2841Gln)	LOC126862902, RYR1 (K2841Q)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075361	NM_000540.3(RYR1):c.8522A>C (p.Lys2841Thr)	LOC126862902, RYR1 (K2841T)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3071841	NM_000540.3(RYR1):c.8536G>A (p.Ala2846Thr)	LOC126862902, RYR1 (A2846T)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3069543	NM_000540.3(RYR1):c.8541+3G>A	LOC126862902, RYR1	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 699618	NM_000540.3(RYR1):c.8542-8C>T	LOC126862902, RYR1	Single nucleotide variant (intron variant)	RYR1-related disorder +1 more	GLikely benign
Select item 2911991	NM_000540.3(RYR1):c.8544C>T (p.Thr2848=)	LOC126862902, RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1 +1 more	GLikely benign
Select item 847214	NM_000540.3(RYR1):c.8546A>G (p.Tyr2849Cys)	LOC126862902, RYR1 (Y2849C)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +3 more	GUncertain significance
Select item 2867617	NM_000540.3(RYR1):c.8556A>T (p.Arg2852=)	LOC126862902, RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3072846	NM_000540.3(RYR1):c.8564A>G (p.Tyr2855Cys)	LOC126862902, RYR1 (Y2855C)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3073766	NM_000540.3(RYR1):c.8567A>T (p.Asn2856Ile)	LOC126862902, RYR1 (N2856I)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3069289	NM_000540.3(RYR1):c.8581G>A (p.Asp2861Asn)	LOC126862902, RYR1 (D2861N)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3073774	NM_000540.3(RYR1):c.8584C>G (p.Leu2862Val)	LOC126862902, RYR1 (L2862V)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 2196194	NM_000540.3(RYR1):c.8594T>C (p.Val2865Ala)	LOC126862902, RYR1 (V2865A)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +1 more	GUncertain significance
Select item 212106	NM_000540.3(RYR1):c.8598C>T (p.Thr2866=)	LOC126862902, RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 2649805	NM_000540.3(RYR1):c.8601G>C (p.Leu2867=)	LOC126862902, RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1 +1 more	GLikely benign
Select item 3072610	NM_000540.3(RYR1):c.8616+4A>G	LOC126862902, RYR1	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance

ClinVar

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Items: 48