C1866077[trait identifier] AND "Color Diagnostics, LLC DBA Color Healt - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 853874	NM_000069.3(CACNA1S):c.5593del (p.Gln1865fs)	CACNA1S (Q1865fs)	Deletion (frameshift variant)	Malignant hyperthermia, susceptibility to, 5 +2 more	GUncertain significance
Select item 509209	NM_000069.3(CACNA1S):c.5592C>T (p.Ser1864=)	CACNA1S	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 254851	NM_000069.3(CACNA1S):c.5574C>T (p.Leu1858=)	CACNA1S	Single nucleotide variant (synonymous variant)	Congenital myopathy 18 +4 more	GLikely benign
Select item 254850	NM_000069.3(CACNA1S):c.5570G>A (p.Ser1857Asn)	CACNA1S (S1857N)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +5 more	GBenign/Likely benign
Select item 294705	NM_000069.3(CACNA1S):c.5515C>T (p.Pro1839Ser)	CACNA1S (P1839S)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 254849	NM_000069.3(CACNA1S):c.5490_5497del (p.Leu1832fs)	CACNA1S (L1832fs)	Deletion (frameshift variant)	Malignant hyperthermia, susceptibility to, 5 +4 more	GBenign/Likely benign
Select item 1062713	NM_000069.3(CACNA1S):c.5482A>G (p.Met1828Val)	CACNA1S (M1828V)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GUncertain significance
Select item 254847	NM_000069.3(CACNA1S):c.5399T>C (p.Leu1800Ser)	CACNA1S (L1800S)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +5 more	GBenign
Select item 474000	NM_000069.3(CACNA1S):c.5299C>A (p.Pro1767Thr)	CACNA1S (P1767T)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +4 more	GConflicting classifications of pathogenicity
Select item 1551834	NM_000069.3(CACNA1S):c.5135-14C>T	CACNA1S	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 647313	NM_000069.3(CACNA1S):c.5105G>C (p.Arg1702Pro)	CACNA1S (R1702P)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 2047865	NM_000069.3(CACNA1S):c.5005G>A (p.Ala1669Thr)	CACNA1S (A1669T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 254842	NM_000069.3(CACNA1S):c.4973G>A (p.Arg1658His)	CACNA1S (R1658H)	Single nucleotide variant (missense variant)	Congenital myopathy 18 +5 more	GBenign
Select item 541047	NM_000069.3(CACNA1S):c.4962C>T (p.Asn1654=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 294709	NM_000069.3(CACNA1S):c.4954C>T (p.Arg1652Cys)	CACNA1S (R1652C)	Single nucleotide variant (missense variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +4 more	GBenign/Likely benign
Select item 294710	NM_000069.3(CACNA1S):c.4882C>T (p.Leu1628Phe)	CACNA1S (L1628F)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 254841	NM_000069.3(CACNA1S):c.4860C>T (p.Pro1620=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +5 more	GBenign
Select item 294714	NM_000069.3(CACNA1S):c.4747G>A (p.Glu1583Lys)	CACNA1S (E1583K)	Single nucleotide variant (missense variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +5 more	GLikely benign
Select item 643903	NM_000069.3(CACNA1S):c.4731C>G (p.Asp1577Glu)	CACNA1S (D1577E)	Single nucleotide variant (missense variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +3 more	GConflicting classifications of pathogenicity
Select item 541073	NM_000069.3(CACNA1S):c.4718C>T (p.Thr1573Met)	CACNA1S (T1573M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 254840	NM_000069.3(CACNA1S):c.4686T>C (p.Ile1562=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5 +7 more	GBenign/Likely benign
Select item 2191584	NM_000069.3(CACNA1S):c.4669-12C>T	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 197021	NM_000069.3(CACNA1S):c.4615C>T (p.Arg1539Cys)	CACNA1S (R1539C)	Single nucleotide variant (missense variant)	Congenital myopathy 18 +5 more	GBenign
Select item 541051	NM_000069.3(CACNA1S):c.4468C>T (p.Leu1490=)	CACNA1S	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1026113	NM_000069.3(CACNA1S):c.4414C>T (p.Arg1472Cys)	CACNA1S (R1472C)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +4 more	GConflicting classifications of pathogenicity
Select item 515432	NM_000069.3(CACNA1S):c.4377C>T (p.Gly1459=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5 +4 more	GLikely benign
Select item 664640	NM_000069.3(CACNA1S):c.4166G>A (p.Arg1389Gln)	CACNA1S (R1389Q)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +4 more	GConflicting classifications of pathogenicity
Select item 390913	NM_000069.3(CACNA1S):c.4114-8T>C	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +5 more	GBenign/Likely benign
Select item 161208	NM_000069.3(CACNA1S):c.4060A>T (p.Thr1354Ser)	CACNA1S (T1354S)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +4 more	GConflicting classifications of pathogenicity
Select item 294723	NM_000069.3(CACNA1S):c.4053A>G (p.Thr1351=)	CACNA1S	Single nucleotide variant (synonymous variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +4 more	GBenign
Select item 1175754	NM_000069.3(CACNA1S):c.4034C>T (p.Ala1345Val)	CACNA1S (A1345V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 254834	NM_000069.3(CACNA1S):c.3953+6C>T	CACNA1S	Single nucleotide variant (intron variant)	Congenital myopathy 18 +5 more	GBenign
Select item 728353	NM_000069.3(CACNA1S):c.3876C>T (p.Ile1292=)	CACNA1S	Single nucleotide variant (synonymous variant)	Congenital myopathy 18 +4 more	GLikely benign
Select item 1543308	NM_000069.3(CACNA1S):c.3852C>T (p.Ile1284=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5 +2 more	GLikely benign
Select item 1026112	NM_000069.3(CACNA1S):c.3823G>A (p.Val1275Ile)	CACNA1S (V1275I)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GConflicting classifications of pathogenicity
Select item 254831	NM_000069.3(CACNA1S):c.3822C>T (p.Ile1274=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +5 more	GBenign
Select item 254830	NM_000069.3(CACNA1S):c.3811G>A (p.Ala1271Thr)	CACNA1S (A1271T)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +5 more	GBenign
Select item 473991	NM_000069.3(CACNA1S):c.3807C>T (p.Tyr1269=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 254829	NM_000069.3(CACNA1S):c.3796-9G>A	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +5 more	GBenign
Select item 254828	NM_000069.3(CACNA1S):c.3796-11C>T	CACNA1S	Single nucleotide variant (intron variant)	Congenital myopathy 18 +4 more	GBenign/Likely benign
Select item 254827	NM_000069.3(CACNA1S):c.3795+3G>A	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +5 more	GBenign/Likely benign
Select item 473990	NM_000069.3(CACNA1S):c.3777G>A (p.Thr1259=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5 +5 more	GBenign/Likely benign
Select item 3061482	NM_000069.3(CACNA1S):c.3688A>G (p.Ile1230Val)	CACNA1S (I1230V)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 699614	NM_000069.3(CACNA1S):c.3663C>T (p.Asn1221=)	CACNA1S	Single nucleotide variant (synonymous variant)	Congenital myopathy 18 +3 more	GLikely benign
Select item 541062	NM_000069.3(CACNA1S):c.3657C>T (p.Cys1219=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5 +4 more	GLikely benign
Select item 541049	NM_000069.3(CACNA1S):c.3616C>T (p.Leu1206=)	CACNA1S	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 294730	NM_000069.3(CACNA1S):c.3606C>T (p.Ile1202=)	CACNA1S	Single nucleotide variant (synonymous variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +3 more	GBenign/Likely benign
Select item 573557	NM_000069.3(CACNA1S):c.3530A>T (p.Tyr1177Phe)	CACNA1S (Y1177F)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +2 more	GConflicting classifications of pathogenicity
Select item 875662	NM_000069.3(CACNA1S):c.3415-13G>T	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +3 more	GBenign/Likely benign
Select item 541034	NM_000069.3(CACNA1S):c.3322C>G (p.Gln1108Glu)	CACNA1S (Q1108E)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +4 more	GUncertain significance
Select item 254825	NM_000069.3(CACNA1S):c.3261A>G (p.Gln1087=)	CACNA1S	Single nucleotide variant (synonymous variant)	Congenital myopathy 18 +5 more	GBenign
Select item 17626	NM_000069.3(CACNA1S):c.3257G>A (p.Arg1086His)	CACNA1S (R1086H)	Single nucleotide variant (missense variant)	succinylcholine response - Toxicity +6 more	Gdrug response
Select item 3072671	NM_000069.3(CACNA1S):c.3256-14T>C	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5	GLikely benign
Select item 2775011	NM_000069.3(CACNA1S):c.3233A>T (p.Asn1078Ile)	CACNA1S (N1078I)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 856074	NM_000069.3(CACNA1S):c.3166A>G (p.Met1056Val)	CACNA1S (M1056V)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +2 more	GConflicting classifications of pathogenicity
Select item 654889	NM_000069.3(CACNA1S):c.3113G>A (p.Arg1038His)	CACNA1S (R1038H)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GConflicting classifications of pathogenicity
Select item 943793	NM_000069.3(CACNA1S):c.3083C>T (p.Ala1028Val)	CACNA1S (A1028V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1547360	NM_000069.3(CACNA1S):c.3054-6C>T	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 2060227	NM_000069.3(CACNA1S):c.3043G>A (p.Gly1015Arg)	CACNA1S (G1015R)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GConflicting classifications of pathogenicity
Select item 265070	NM_000069.3(CACNA1S):c.3026C>T (p.Thr1009Met)	CACNA1S (T1009M)	Single nucleotide variant (missense variant)	Congenital myopathy 18 +4 more	GUncertain significance
Select item 225282	NM_000069.3(CACNA1S):c.2992G>A (p.Asp998Asn)	CACNA1S (D998N)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 294736	NM_000069.3(CACNA1S):c.2957G>A (p.Arg986His)	CACNA1S (R986H)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +5 more	GConflicting classifications of pathogenicity
Select item 1167463	NM_000069.3(CACNA1S):c.2922G>A (p.Val974=)	CACNA1S	Single nucleotide variant (synonymous variant)	Congenital myopathy 18 +4 more	GBenign/Likely benign
Select item 2775012	NM_000069.3(CACNA1S):c.2908G>A (p.Gly970Ser)	CACNA1S (G970S)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GUncertain significance
Select item 2775013	NM_000069.3(CACNA1S):c.2874C>G (p.Thr958=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5	GLikely benign
Select item 2775014	NM_000069.3(CACNA1S):c.2873C>T (p.Thr958Ile)	CACNA1S (T958I)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GUncertain significance
Select item 1045686	NM_000069.3(CACNA1S):c.2864T>C (p.Phe955Ser)	CACNA1S (F955S)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +2 more	GUncertain significance
Select item 715296	NM_000069.3(CACNA1S):c.2838C>T (p.Gly946=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +4 more	GConflicting classifications of pathogenicity
Select item 2082374	NM_000069.3(CACNA1S):c.2785G>A (p.Gly929Arg)	CACNA1S (G929R)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GConflicting classifications of pathogenicity
Select item 294738	NM_000069.3(CACNA1S):c.2784C>T (p.Ile928=)	CACNA1S	Single nucleotide variant (synonymous variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +5 more	GBenign
Select item 254822	NM_000069.3(CACNA1S):c.2748C>T (p.His916=)	CACNA1S	Single nucleotide variant (synonymous variant)	Congenital myopathy 18 +5 more	GBenign
Select item 254821	NM_000069.3(CACNA1S):c.2746-14C>T	CACNA1S	Single nucleotide variant (intron variant)	Congenital myopathy 18 +5 more	GBenign
Select item 254819	NM_000069.3(CACNA1S):c.2673C>T (p.Ser891=)	CACNA1S	Single nucleotide variant (synonymous variant)	Congenital myopathy 18 +5 more	GBenign
Select item 1086762	NM_000069.3(CACNA1S):c.2658-10C>T	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +3 more	GLikely benign
Select item 1023717	NM_000069.3(CACNA1S):c.2630C>T (p.Ala877Val)	CACNA1S (A877V)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GConflicting classifications of pathogenicity
Select item 646037	NM_000069.3(CACNA1S):c.2593C>T (p.Arg865Cys)	CACNA1S (R865C)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 998424	NM_000069.3(CACNA1S):c.2512G>A (p.Gly838Arg)	CACNA1S (G838R)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 254816	NM_000069.3(CACNA1S):c.2480T>C (p.Met827Thr)	CACNA1S (M827T)	Single nucleotide variant (missense variant)	Congenital myopathy 18 +5 more	GBenign
Select item 254815	NM_000069.3(CACNA1S):c.2454G>A (p.Ala818=)	CACNA1S	Single nucleotide variant (synonymous variant)	Congenital myopathy 18 +5 more	GBenign/Likely benign
Select item 294744	NM_000069.3(CACNA1S):c.2440G>A (p.Ala814Thr)	CACNA1S (A814T)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 254814	NM_000069.3(CACNA1S):c.2403T>C (p.Phe801=)	CACNA1S	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 473976	NM_000069.3(CACNA1S):c.2376T>C (p.Cys792=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +3 more	GLikely benign
Select item 1148907	NM_000069.3(CACNA1S):c.2361-4C>T	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 2775015	NM_000069.3(CACNA1S):c.2361-9C>T	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 541059	NM_000069.3(CACNA1S):c.2361-10G>A	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +3 more	GLikely benign
Select item 294747	NM_000069.3(CACNA1S):c.2361-11C>T	CACNA1S	Single nucleotide variant (intron variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +4 more	GBenign/Likely benign
Select item 254813	NM_000069.3(CACNA1S):c.2361-13C>T	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5 +5 more	GBenign
Select item 2161164	NM_000069.3(CACNA1S):c.2228-14C>T	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 1062995	NM_000069.3(CACNA1S):c.2218G>A (p.Asp740Asn)	CACNA1S (D740N)	Single nucleotide variant (missense variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +4 more	GConflicting classifications of pathogenicity
Select item 2192989	NM_000069.3(CACNA1S):c.2065G>A (p.Gly689Ser)	CACNA1S (G689S)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GUncertain significance
Select item 429405	NM_000069.3(CACNA1S):c.2048G>A (p.Arg683His)	CACNA1S (R683H)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 199685	NM_000069.3(CACNA1S):c.2047C>T (p.Arg683Cys)	CACNA1S (R683C)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign
Select item 254809	NM_000069.3(CACNA1S):c.1995C>T (p.Ala665=)	CACNA1S	Single nucleotide variant (synonymous variant)	Congenital myopathy 18 +5 more	GBenign
Select item 294752	NM_000069.3(CACNA1S):c.1945A>C (p.Asn649His)	CACNA1S (N649H)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +5 more	GConflicting classifications of pathogenicity
Select item 806318	NM_000069.3(CACNA1S):c.1904T>C (p.Met635Thr)	CACNA1S (M635T)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GConflicting classifications of pathogenicity
Select item 473969	NM_000069.3(CACNA1S):c.1890G>A (p.Pro630=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +5 more	GBenign/Likely benign
Select item 3386369	NM_000069.3(CACNA1S):c.1861T>C (p.Tyr621His)	CACNA1S (Y621H)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 254804	NM_000069.3(CACNA1S):c.1828-5T>C	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5 +4 more	GBenign/Likely benign
Select item 1665847	NM_000069.3(CACNA1S):c.1818C>T (p.Ser606=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 254803	NM_000069.3(CACNA1S):c.1817G>A (p.Ser606Asn)	CACNA1S (S606N)	Single nucleotide variant (missense variant)	Congenital myopathy 18 +5 more	GBenign/Likely benign

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