C0024591[trait identifier] AND "CSER _CC_NCGL, University of Washingto - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 254850	NM_000069.3(CACNA1S):c.5570G>A (p.Ser1857Asn)	CACNA1S (S1857N)	Single nucleotide variant (missense variant)	Congenital myopathy 18 +5 more	GBenign/Likely benign
Select item 496656	NM_000069.3(CACNA1S):c.5489C>G (p.Thr1830Arg)	CACNA1S (T1830R)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GUncertain significance
Select item 496653	NM_000069.3(CACNA1S):c.5417T>C (p.Phe1806Ser)	CACNA1S (F1806S)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GUncertain significance
Select item 496658	NM_000069.3(CACNA1S):c.3686G>C (p.Arg1229Pro)	CACNA1S (R1229P)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia +2 more	GConflicting classifications of pathogenicity
Select item 225282	NM_000069.3(CACNA1S):c.2992G>A (p.Asp998Asn)	CACNA1S (D998N)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GConflicting classifications of pathogenicity
Select item 225281	NM_000069.3(CACNA1S):c.1547C>T (p.Ser516Leu)	CACNA1S (S516L)	Single nucleotide variant (missense variant)	Congenital myopathy 18 +6 more	GBenign/Likely benign
Select item 294777	NM_000069.3(CACNA1S):c.598G>A (p.Ala200Thr)	CACNA1S (A200T)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +5 more	GConflicting classifications of pathogenicity
Select item 199686	NM_000069.3(CACNA1S):c.530C>T (p.Ser177Leu)	CACNA1S (S177L)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +5 more	GConflicting classifications of pathogenicity
Select item 133046	NM_000540.3(RYR1):c.131G>A (p.Arg44His)	RYR1 (R44H)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 133076	NM_000540.3(RYR1):c.1453A>G (p.Met485Val)	LOC129391106, RYR1 (M485V)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 133101	NM_000540.3(RYR1):c.1589G>A (p.Arg530His)	RYR1 (R530H)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely pathogenic FDA Recognized database
Select item 12964	NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys)	RYR1 (R614C)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +7 more	GPathogenic; drug response FDA Recognized database
Select item 496666	NM_000540.3(RYR1):c.2320G>A (p.Gly774Arg)	RYR1 (G774R)	Single nucleotide variant (missense variant)	RYR1-related myopathy +8 more	GUncertain significance
Select item 496649	NM_000540.3(RYR1):c.4006C>A (p.Arg1336Ser)	RYR1 (R1336S)	Single nucleotide variant (missense variant)	RYR1-Related Disorders +2 more	GUncertain significance
Select item 496659	NM_000540.3(RYR1):c.4088C>G (p.Ala1363Gly)	RYR1 (A1363G)	Single nucleotide variant (missense variant)	RYR1-Related Disorders +1 more	GUncertain significance
Select item 93269	NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg)	RYR1 (K1393R)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GBenign FDA Recognized database
Select item 226046	NM_000540.3(RYR1):c.4424T>C (p.Met1475Thr)	RYR1 (M1475T)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +1 more	GUncertain significance
Select item 161364	NM_000540.3(RYR1):c.5036G>A (p.Arg1679His)	RYR1 (R1679H)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign FDA Recognized database
Select item 133144	NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe)	RYR1 (S1728F)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely pathogenic FDA Recognized database
Select item 133175	NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser)	RYR1 (N2342S)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign FDA Recognized database
Select item 161365	NM_000540.3(RYR1):c.9713A>G (p.Glu3238Gly)	RYR1 (E3238G)	Single nucleotide variant (missense variant)	RYR1-Related Disorders +7 more	GConflicting classifications of pathogenicity
Select item 132997	NM_000540.3(RYR1):c.10616G>A (p.Arg3539His)	RYR1 (R3539H +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GLikely benign FDA Recognized database
Select item 93249	NM_000540.3(RYR1):c.12879G>C (p.Ala4293=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-Related Disorders +8 more	GConflicting classifications of pathogenicity
Select item 93252	NM_000540.3(RYR1):c.13513G>C (p.Asp4505His)	RYR1 (D4505H +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GBenign FDA Recognized database
Select item 161377	NM_000540.3(RYR1):c.13760C>T (p.Pro4587Leu)	RYR1 (P4587L +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GUncertain significance FDA Recognized database
Select item 133075	NM_000540.3(RYR1):c.14524G>A (p.Val4842Met)	RYR1 (V4842M +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GUncertain significance FDA Recognized database
Select item 133098	NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu)	RYR1 (P4973L +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely pathogenic FDA Recognized database
Select item 201154	NM_000540.3(RYR1):c.14928C>G (p.Phe4976Leu)	RYR1 (F4976L +1 more)	Single nucleotide variant (missense variant)	RYR1-Related Disorders +4 more	GConflicting classifications of pathogenicity

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Items: 28