"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "LOC1268629 - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 197946	NM_000540.3(RYR1):c.8327C>T (p.Ser2776Phe)	LOC126862902, RYR1 (S2776F)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign FDA Recognized database
Select item 133223	NM_000540.3(RYR1):c.8360C>G (p.Thr2787Ser)	LOC126862902, RYR1 (T2787S)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GBenign FDA Recognized database
Select item 256574	NM_000540.3(RYR1):c.8361C>T (p.Thr2787=)	LOC126862902, RYR1	Single nucleotide variant (synonymous variant)	RYR1-Related Disorders +3 more	GBenign
Select item 167620	NM_000540.3(RYR1):c.8376G>A (p.Arg2792=)	LOC126862902, RYR1	Single nucleotide variant (synonymous variant)	RYR1-Related Disorders +6 more	GBenign/Likely benign
Select item 425180	NM_000540.3(RYR1):c.8417G>A (p.Arg2806His)	LOC126862902, RYR1 (R2806H)	Single nucleotide variant (missense variant)	RYR1-Related Disorders +2 more	GUncertain significance
Select item 697345	NM_000540.3(RYR1):c.8442G>A (p.Lys2814=)	LOC126862902, RYR1	Single nucleotide variant (synonymous variant)	RYR1-Related Disorders +4 more	GConflicting classifications of pathogenicity
Select item 1085078	NM_000540.3(RYR1):c.8517G>A (p.Thr2839=)	LOC126862902, RYR1	Single nucleotide variant (synonymous variant)	RYR1-Related Disorders +2 more	GLikely benign
Select item 1298764	NM_000540.3(RYR1):c.8539_8541+19del	LOC126862902, RYR1	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 2649805	NM_000540.3(RYR1):c.8601G>C (p.Leu2867=)	LOC126862902, RYR1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 93301	NM_000540.3(RYR1):c.8616+7G>A	LOC126862902, RYR1	Single nucleotide variant (intron variant)	RYR1-Related Disorders +6 more	GBenign/Likely benign