Related gene-specific medical variations for Gene (Select 6261) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 681

<< First< Prev

Page of 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338143	NM_000540.3(RYR1):c.4161-526_4161-499del	RYR1	Deletion (intron variant)	Muscle tissue disorder	GLikely benign
Select item 3251081	NM_000540.3(RYR1):c.1561C>G (p.Leu521Val)	LOC129391106, RYR1 (L521V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3248526	NC_000019.9:g.(?_38973647)_(38974176_?)del	RYR1	Deletion	RYR1-related disorder	GPathogenic
Select item 3248525	NC_000019.9:g.(?_38954043)_(38957058_?)del	RYR1	Deletion	RYR1-related disorder	GPathogenic
Select item 3248524	NC_000019.9:g.(?_38954043)_(38955382_?)del	RYR1	Deletion	RYR1-related disorder	GPathogenic
Select item 3248523	NC_000019.9:g.(?_38948117)_(38980103_?)del	RYR1	Deletion	RYR1-related disorder	GPathogenic
Select item 3248522	NC_000019.9:g.(?_39066539)_(39066621_?)del	RYR1	Deletion	RYR1-related disorder	GPathogenic
Select item 3248521	NC_000019.9:g.(?_38955259)_(38955382_?)del	RYR1	Deletion	RYR1-related disorder	GLikely pathogenic
Select item 3248520	NC_000019.9:g.(?_39077145)_(39077236_?)del	RYR1	Deletion	RYR1-related disorder	GPathogenic
Select item 3242626	NC_000019.9:g.(?_39051733)_(39078060_?)dup	RYR1	Duplication	RYR1-related disorder	GUncertain significance
Select item 3242625	NC_000019.9:g.(?_38979797)_(39010114_?)dup	RYR1	Duplication	RYR1-related disorder	GLikely pathogenic
Select item 3242623	NC_000019.9:g.(?_39066539)_(39066621_?)dup	RYR1	Duplication	RYR1-related disorder	GLikely pathogenic
Select item 3242622	NC_000019.9:g.(?_39037065)_(39037186_?)dup	RYR1	Duplication	RYR1-related disorder	GLikely pathogenic
Select item 3242621	NC_000019.9:g.(?_38965938)_(38966110_?)dup	RYR1	Duplication	RYR1-related disorder	GLikely pathogenic
Select item 3242620	NC_000019.9:g.(?_39068538)_(39068864_?)del	RYR1	Deletion	RYR1-related disorder	GPathogenic
Select item 3242619	NC_000019.9:g.(?_39058393)_(39061353_?)del	RYR1	Deletion	RYR1-related disorder	GPathogenic
Select item 3242618	NC_000019.9:g.(?_39057531)_(39058577_?)del	RYR1	Deletion	RYR1-related disorder	GUncertain significance
Select item 3242617	NC_000019.9:g.(?_39023110)_(39039080_?)del	RYR1	Deletion	RYR1-related disorder	GPathogenic
Select item 3242616	NC_000019.9:g.(?_39023110)_(39023396_?)del	RYR1	Deletion	RYR1-related disorder	GPathogenic
Select item 3242615	NC_000019.9:g.(?_38995368)_(38996058_?)del	RYR1	Deletion	RYR1-related disorder	GUncertain significance
Select item 3242614	NC_000019.9:g.(?_38989728)_(39005767_?)del	RYR1	Deletion	RYR1-related disorder	GPathogenic
Select item 3242327	GRCh37/hg19 19q13.2(chr19:38988140-38992568)x1	RYR1	Copy number loss	not provided	GLikely pathogenic
Select item 3242118	NM_000540.3(RYR1):c.8557G>A (p.Glu2853Lys)	LOC126862902, RYR1 (E2853K)	Single nucleotide variant (missense variant)	Central core myopathy	GUncertain significance
Select item 3237453	NM_000540.3(RYR1):c.7522C>A (p.Arg2508Ser)	RYR1 (R2508S)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia	GLikely pathogenic
Select item 3233240	NM_000540.3(RYR1):c.8373del (p.Arg2792fs)	LOC126862902, RYR1 (R2792fs)	Deletion (frameshift variant)	Congenital multicore myopathy with external ophthalmoplegia	GLikely pathogenic
Select item 3157346	NM_000540.3(RYR1):c.8474A>G (p.Lys2825Arg)	LOC126862902, RYR1 (K2825R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157334	NM_000540.3(RYR1):c.1489A>G (p.Thr497Ala)	LOC129391106, RYR1 (T497A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157329	NM_000540.3(RYR1):c.13297G>A (p.Gly4433Ser)	LOC130064357, RYR1 (G4433S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3075759	NM_000540.3(RYR1):c.1441-2A>G	LOC129391106, RYR1	Single nucleotide variant (splice acceptor variant)	Central core myopathy	GLikely pathogenic
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 3075127	NM_000540.3(RYR1):c.1473C>A (p.Asp491Glu)	LOC129391106, RYR1 (D491E)	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 3074104	NM_000540.3(RYR1):c.1486T>C (p.Tyr496His)	LOC129391106, RYR1 (Y496H)	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 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 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 3073092	NM_000540.3(RYR1):c.1441-12del	LOC129391106, RYR1	Deletion (intron variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3072969	NM_000540.3(RYR1):c.1487A>G (p.Tyr496Cys)	LOC129391106, RYR1 (Y496C)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
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 3072690	NM_000540.3(RYR1):c.1556A>C (p.Asn519Thr)	LOC129391106, RYR1 (N519T)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
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
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 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 3071381	NM_000540.3(RYR1):c.1449C>T (p.Leu483=)	LOC129391106, RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign
Select item 3071058	NM_000540.3(RYR1):c.1441-6T>C	LOC129391106, RYR1	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign
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 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 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 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 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 3069511	NM_000540.3(RYR1):c.1522G>C (p.Glu508Gln)	LOC129391106, RYR1 (E508Q)	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 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 3065844	NM_000540.3(RYR1):c.7679C>T (p.Pro2560Leu)	RYR1 (P2560L)	Single nucleotide variant (missense variant)	Central core myopathy	GUncertain significance
Select item 3065667	NM_000540.3(RYR1):c.10010G>T (p.Arg3337Leu)	RYR1 (R3337L)	Single nucleotide variant (missense variant)	Central core myopathy	GUncertain significance
Select item 3065285	NM_000540.3(RYR1):c.7282G>T (p.Ala2428Ser)	RYR1 (A2428S)	Single nucleotide variant (missense variant)	Central core myopathy	GLikely pathogenic
Select item 3015558	NM_000540.3(RYR1):c.1512G>A (p.Glu504=)	LOC129391106, RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder	GLikely benign
Select item 3011411	NM_000540.3(RYR1):c.8401-16C>A	LOC126862902, RYR1	Single nucleotide variant (intron variant)	RYR1-related disorder	GLikely benign
Select item 3005602	NM_000540.3(RYR1):c.13308_13312del (p.Ala4437fs)	LOC130064357, RYR1 (A4432fs +1 more)	Deletion (frameshift variant)	RYR1-related disorder	GPathogenic
Select item 3003813	NM_000540.3(RYR1):c.8511A>G (p.Lys2837=)	LOC126862902, RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder	GLikely benign
Select item 2998337	NM_000540.3(RYR1):c.8616+8C>G	LOC126862902, RYR1	Single nucleotide variant (intron variant)	RYR1-related disorder	GLikely benign
Select item 2996239	NM_000540.3(RYR1):c.8501C>A (p.Thr2834Lys)	LOC126862902, RYR1 (T2834K)	Single nucleotide variant (missense variant)	RYR1-related disorder	GUncertain significance
Select item 2977733	NM_000540.3(RYR1):c.1522G>T (p.Glu508Ter)	LOC129391106, RYR1 (E508*)	Single nucleotide variant (nonsense)	RYR1-related disorder	GPathogenic
Select item 2972908	NM_000540.3(RYR1):c.8427C>A (p.Ile2809=)	LOC126862902, RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder	GLikely benign
Select item 2971115	NM_000540.3(RYR1):c.13281C>T (p.His4427=)	LOC130064357, RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder	GLikely benign
Select item 2969324	NM_000540.3(RYR1):c.1441-15T>C	LOC129391106, RYR1	Single nucleotide variant (intron variant)	RYR1-related disorder +1 more	GLikely benign
Select item 2966236	NM_000540.3(RYR1):c.8460A>G (p.Glu2820=)	LOC126862902, RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder	GLikely benign
Select item 2920711	NM_000540.3(RYR1):c.10865del (p.Lys3622fs)	RYR1 (K3622fs +1 more)	Deletion (frameshift variant)	RYR1-related myopathy	GPathogenic
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 2910109	NM_000540.3(RYR1):c.8532A>G (p.Gln2844=)	LOC126862902, RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder	GLikely benign
Select item 2909586	NM_000540.3(RYR1):c.8607G>A (p.Arg2869=)	LOC126862902, RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder	GLikely benign
Select item 2908151	NM_000540.3(RYR1):c.8311-9C>T	LOC126862902, RYR1	Single nucleotide variant (intron variant)	RYR1-related disorder	GLikely benign
Select item 2905811	NM_000540.3(RYR1):c.8490G>A (p.Glu2830=)	LOC126862902, RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder	GLikely benign
Select item 2903671	NM_000540.3(RYR1):c.8542-15C>T	LOC126862902, RYR1	Single nucleotide variant (intron variant)	RYR1-related disorder	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 2898753	NM_000540.3(RYR1):c.1441-5C>G	LOC129391106, RYR1	Single nucleotide variant (intron variant)	RYR1-related disorder	GLikely benign
Select item 2897137	NM_000540.3(RYR1):c.8580C>G (p.Pro2860=)	LOC126862902, RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder	GLikely benign
Select item 2892813	NM_000540.3(RYR1):c.1441G>A (p.Gly481Arg)	LOC129391106, RYR1 (G481R)	Single nucleotide variant (missense variant)	RYR1-related disorder	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 2891841	NM_000540.3(RYR1):c.13302C>T (p.Ala4434=)	LOC130064357, RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder	GLikely benign
Select item 2891675	NM_000540.3(RYR1):c.13345G>A (p.Glu4449Lys)	LOC130064357, RYR1 (E4444K +1 more)	Single nucleotide variant (missense variant)	RYR1-related disorder +1 more	GUncertain significance
Select item 2891190	NM_000540.3(RYR1):c.8616+9C>T	LOC126862902, RYR1	Single nucleotide variant (intron variant)	RYR1-related disorder	GLikely benign
Select item 2885032	NM_000540.3(RYR1):c.8542-5C>T	LOC126862902, RYR1	Single nucleotide variant (intron variant)	RYR1-related disorder	GLikely benign
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 2874770	NM_000540.3(RYR1):c.13344C>T (p.Pro4448=)	LOC130064357, RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder	GLikely benign
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 2865569	NM_000540.3(RYR1):c.1441-9T>A	LOC129391106, RYR1	Single nucleotide variant (intron variant)	RYR1-related disorder	GLikely benign
Select item 2865013	NM_000540.3(RYR1):c.1441-16A>C	LOC129391106, RYR1	Single nucleotide variant (intron variant)	RYR1-related disorder	GLikely benign
Select item 2859252	NM_000540.3(RYR1):c.8576C>G (p.Pro2859Arg)	LOC126862902, RYR1 (P2859R)	Single nucleotide variant (missense variant)	RYR1-related disorder	GUncertain significance
Select item 2857271	NM_000540.3(RYR1):c.8535T>C (p.Ser2845=)	LOC126862902, RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder	GLikely benign
Select item 2854173	NM_000540.3(RYR1):c.1461G>C (p.Leu487=)	LOC129391106, RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder	GLikely benign
Select item 2839404	NM_000540.3(RYR1):c.8514A>G (p.Lys2838=)	LOC126862902, RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder	GLikely benign
Select item 2833527	NM_000540.3(RYR1):c.8403C>T (p.Asp2801=)	LOC126862902, RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder	GLikely benign
Select item 2833093	NM_000540.3(RYR1):c.8401-12T>G	LOC126862902, RYR1	Single nucleotide variant (intron variant)	RYR1-related disorder	GLikely benign
Select item 2814980	NM_000540.3(RYR1):c.8364C>T (p.His2788=)	LOC126862902, RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder	GLikely benign
Select item 2801351	NM_000540.3(RYR1):c.8562C>G (p.Gly2854=)	LOC126862902, RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder	GLikely benign
Select item 2787362	NM_000540.3(RYR1):c.8542-3C>G	LOC126862902, RYR1	Single nucleotide variant (intron variant)	RYR1-related disorder	GUncertain significance
Select item 2782901	NM_000540.3(RYR1):c.1441-4C>G	LOC129391106, RYR1	Single nucleotide variant (intron variant)	RYR1-related disorder	GLikely benign
Select item 2770809	NM_000540.3(RYR1):c.13279_13282del (p.His4427fs)	LOC130064357, RYR1 (H4422fs +1 more)	Deletion (frameshift variant)	RYR1-related disorder	GPathogenic
Select item 2764018	NM_000540.3(RYR1):c.8542-16_8542-11del	LOC126862902, RYR1	Deletion (intron variant)	RYR1-related disorder	GLikely benign

<< First< Prev

Page of 7