779[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932325, LOC129932326 +1148 more	Copy number gain	See cases	GPathogenic
Select item 144143	GRCh38/hg38 1q32.1(chr1:200144603-203112078)x1	LMOD1, LOC101929305 +166 more	Copy number loss	See cases	GPathogenic
Select item 294697	NM_000069.3(CACNA1S):c.*310A>T	CACNA1S	Single nucleotide variant (3 prime UTR variant)	Hypokalemic periodic paralysis, type 1 +4 more	GBenign/Likely benign
Select item 294698	NM_000069.3(CACNA1S):c.*260T>A	CACNA1S	Single nucleotide variant (3 prime UTR variant)	Malignant hyperthermia of anesthesia +1 more	GUncertain significance
Select item 875563	NM_000069.3(CACNA1S):c.*252T>C	CACNA1S	Single nucleotide variant (3 prime UTR variant)	Hypokalemic periodic paralysis, type 1	GUncertain significance
Select item 294699	NM_000069.3(CACNA1S):c.*183C>T	LOC101929305, CACNA1S	Single nucleotide variant (3 prime UTR variant)	Hypokalemic periodic paralysis, type 1	GUncertain significance
Select item 876560	NM_000069.3(CACNA1S):c.*170G>A	CACNA1S, LOC101929305	Single nucleotide variant (3 prime UTR variant)	Hypokalemic periodic paralysis, type 1	GUncertain significance
Select item 294700	NM_000069.3(CACNA1S):c.*163G>A	CACNA1S	Single nucleotide variant (3 prime UTR variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 876561	NM_000069.3(CACNA1S):c.*134G>T	CACNA1S, LOC101929305	Single nucleotide variant (3 prime UTR variant)	Hypokalemic periodic paralysis, type 1	GUncertain significance
Select item 294701	NM_000069.3(CACNA1S):c.*109G>T	CACNA1S	Single nucleotide variant (3 prime UTR variant)	Malignant hyperthermia of anesthesia +1 more	GUncertain significance
Select item 294702	NM_000069.3(CACNA1S):c.*104T>C	CACNA1S	Single nucleotide variant (3 prime UTR variant)	Hypokalemic periodic paralysis, type 1	GLikely benign
Select item 294703	NM_000069.3(CACNA1S):c.*87G>A	CACNA1S, LOC101929305	Single nucleotide variant (3 prime UTR variant)	Hypokalemic periodic paralysis, type 1	GUncertain significance
Select item 3075312	NM_000069.3(CACNA1S):c.5622A>G (p.Ter1874Trp)	CACNA1S	Single nucleotide variant (stop lost)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 1052571	NM_000069.3(CACNA1S):c.5621G>T (p.Ter1874Leu)	CACNA1S	Single nucleotide variant (stop lost)	Malignant hyperthermia, susceptibility to, 5 +1 more	GUncertain significance
Select item 592053	NM_000069.3(CACNA1S):c.5620T>C (p.Ter1874Arg)	CACNA1S, LOC101929305	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 938948	NM_000069.3(CACNA1S):c.5614A>G (p.Arg1872Gly)	CACNA1S (R1872G)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GUncertain significance
Select item 1077693	NM_000069.3(CACNA1S):c.5613A>G (p.Pro1871=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 541035	NM_000069.3(CACNA1S):c.5612C>T (p.Pro1871Leu)	CACNA1S (P1871L)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GUncertain significance
Select item 2185479	NM_000069.3(CACNA1S):c.5611C>T (p.Pro1871Ser)	CACNA1S (P1871S)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GUncertain significance
Select item 941429	NM_000069.3(CACNA1S):c.5606T>C (p.Ile1869Thr)	CACNA1S (I1869T)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GUncertain significance
Select item 3576575	NM_000069.3(CACNA1S):c.5585_5602del (p.Gln1862_Thr1867del)	CACNA1S	Deletion	Malignant hyperthermia, susceptibility to, 5 +3 more	GUncertain significance
Select item 3576570	NM_000069.3(CACNA1S):c.5602C>T (p.Leu1868Phe)	CACNA1S (L1868F)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GUncertain significance
Select item 2929371	NM_000069.3(CACNA1S):c.5595_5600del (p.Gln1865_Thr1867delinsHis)	CACNA1S	Deletion (inframe_indel)	Hypokalemic periodic paralysis, type 1 +1 more	GUncertain significance
Select item 853874	NM_000069.3(CACNA1S):c.5593del (p.Gln1865fs)	CACNA1S (Q1865fs)	Deletion (frameshift variant)	not provided +2 more	GUncertain significance
Select item 509209	NM_000069.3(CACNA1S):c.5592C>T (p.Ser1864=)	CACNA1S	Single nucleotide variant (synonymous variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +4 more	GLikely benign
Select item 2940976	NM_000069.3(CACNA1S):c.5587G>A (p.Gly1863Ser)	CACNA1S (G1863S)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +1 more	GUncertain significance
Select item 1430210	NM_000069.3(CACNA1S):c.5583C>G (p.His1861Gln)	CACNA1S (H1861Q)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GUncertain significance
Select item 1086734	NM_000069.3(CACNA1S):c.5583C>T (p.His1861=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 392278	NM_000069.3(CACNA1S):c.5576A>G (p.Asp1859Gly)	CACNA1S (D1859G)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +4 more	GUncertain significance
Select item 1496452	NM_000069.3(CACNA1S):c.5575G>A (p.Asp1859Asn)	CACNA1S (D1859N)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +2 more	GConflicting classifications of pathogenicity
Select item 254851	NM_000069.3(CACNA1S):c.5574C>T (p.Leu1858=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +4 more	GLikely benign
Select item 1517292	NM_000069.3(CACNA1S):c.5572C>T (p.Leu1858Phe)	CACNA1S (L1858F)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +2 more	GConflicting classifications of pathogenicity
Select item 254850	NM_000069.3(CACNA1S):c.5570G>A (p.Ser1857Asn)	CACNA1S (S1857N)	Single nucleotide variant (missense variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +5 more	GBenign/Likely benign
Select item 3769323	NM_000069.3(CACNA1S):c.5567G>A (p.Gly1856Asp)	CACNA1S (G1856D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2951446	NM_000069.3(CACNA1S):c.5565G>A (p.Leu1855=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 2936231	NM_000069.3(CACNA1S):c.5563C>T (p.Leu1855=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 3071958	NM_000069.3(CACNA1S):c.5559C>T (p.Ser1853=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3751521	NM_000069.3(CACNA1S):c.5558C>T (p.Ser1853Phe)	CACNA1S (S1853F)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +1 more	GUncertain significance
Select item 850201	NM_000069.3(CACNA1S):c.5557T>C (p.Ser1853Pro)	CACNA1S (S1853P)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GUncertain significance
Select item 1585283	NM_000069.3(CACNA1S):c.5556G>A (p.Gly1852=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 294704	NM_000069.3(CACNA1S):c.5554G>A (p.Gly1852Arg)	CACNA1S (G1852R)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GBenign/Likely benign
Select item 2929770	NM_000069.3(CACNA1S):c.5553C>T (p.Leu1851=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 3386264	NM_000069.3(CACNA1S):c.5550C>G (p.Asn1850Lys)	CACNA1S (N1850K)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 2924911	NM_000069.3(CACNA1S):c.5550C>T (p.Asn1850=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 474005	NM_000069.3(CACNA1S):c.5550C>A (p.Asn1850Lys)	CACNA1S (N1850K)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +4 more	GConflicting classifications of pathogenicity
Select item 3393854	NM_000069.3(CACNA1S):c.5545C>A (p.Leu1849Met)	CACNA1S (L1849M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3073562	NM_000069.3(CACNA1S):c.5544C>A (p.Cys1848Ter)	CACNA1S (C1848*)	Single nucleotide variant (nonsense)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3386265	NM_000069.3(CACNA1S):c.5543G>T (p.Cys1848Phe)	CACNA1S (C1848F)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 2929322	NM_000069.3(CACNA1S):c.5543G>A (p.Cys1848Tyr)	CACNA1S (C1848Y)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +1 more	GUncertain significance
Select item 1432810	NM_000069.3(CACNA1S):c.5534C>T (p.Ser1845Phe)	CACNA1S (S1845F)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +1 more	GUncertain significance
Select item 1408754	NM_000069.3(CACNA1S):c.5532C>G (p.Ser1844Arg)	CACNA1S (S1844R)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +1 more	GUncertain significance
Select item 2075209	NM_000069.3(CACNA1S):c.5531G>C (p.Ser1844Thr)	CACNA1S (S1844T)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GBenign
Select item 948851	NM_000069.3(CACNA1S):c.5531G>A (p.Ser1844Asn)	CACNA1S (S1844N)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GUncertain significance
Select item 1369216	NM_000069.3(CACNA1S):c.5526G>A (p.Met1842Ile)	CACNA1S (M1842I)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +4 more	GUncertain significance
Select item 744841	NM_000069.3(CACNA1S):c.5520G>A (p.Glu1840=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 3602879	NM_000069.3(CACNA1S):c.5516C>A (p.Pro1839Gln)	CACNA1S (P1839Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3070225	NM_000069.3(CACNA1S):c.5516del (p.Pro1839fs)	CACNA1S (P1839fs)	Deletion (frameshift variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 294705	NM_000069.3(CACNA1S):c.5515C>T (p.Pro1839Ser)	CACNA1S (P1839S)	Single nucleotide variant (missense variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +5 more	GBenign/Likely benign
Select item 2930023	NM_000069.3(CACNA1S):c.5514C>T (p.Ala1838=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 873700	NM_000069.3(CACNA1S):c.5512G>T (p.Ala1838Ser)	CACNA1S, LOC101929305 (A1838S)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1	GUncertain significance
Select item 1428009	NM_000069.3(CACNA1S):c.5510A>G (p.Glu1837Gly)	CACNA1S (E1837G)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 294706	NM_000069.3(CACNA1S):c.5510A>C (p.Glu1837Ala)	CACNA1S (E1837A)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +2 more	GConflicting classifications of pathogenicity
Select item 806310	NM_000069.3(CACNA1S):c.5507G>A (p.Arg1836Gln)	CACNA1S (R1836Q)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +2 more	GConflicting classifications of pathogenicity
Select item 2196105	NM_000069.3(CACNA1S):c.5506C>T (p.Arg1836Ter)	CACNA1S (R1836*)	Single nucleotide variant (nonsense)	Malignant hyperthermia, susceptibility to, 5 +3 more	GUncertain significance
Select item 1104776	NM_000069.3(CACNA1S):c.5506C>A (p.Arg1836=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 3576583	NM_000069.3(CACNA1S):c.5504G>A (p.Gly1835Glu)	CACNA1S (G1835E)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GUncertain significance
Select item 254849	NM_000069.3(CACNA1S):c.5490_5497del (p.Leu1832fs)	CACNA1S (L1832fs)	Deletion (frameshift variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +4 more	GBenign/Likely benign
Select item 3069561	NM_000069.3(CACNA1S):c.5495T>C (p.Leu1832Pro)	CACNA1S (L1832P)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 2114040	NM_000069.3(CACNA1S):c.5493G>A (p.Glu1831=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely 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 2233707	NM_000069.3(CACNA1S):c.5484G>A (p.Met1828Ile)	CACNA1S (M1828I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3386266	NM_000069.3(CACNA1S):c.5483T>C (p.Met1828Thr)	CACNA1S (M1828T)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GUncertain significance
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 3072959	NM_000069.3(CACNA1S):c.5480T>C (p.Ile1827Thr)	CACNA1S (I1827T)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 857485	NM_000069.3(CACNA1S):c.5480T>A (p.Ile1827Asn)	CACNA1S (I1827N)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GUncertain significance
Select item 3071845	NM_000069.3(CACNA1S):c.5476G>A (p.Glu1826Lys)	CACNA1S (E1826K)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 2419836	NM_000069.3(CACNA1S):c.5473G>A (p.Val1825Met)	CACNA1S (V1825M)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GUncertain significance
Select item 1903227	NM_000069.3(CACNA1S):c.5469G>A (p.Glu1823=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 2582869	NM_000069.3(CACNA1S):c.5466A>G (p.Pro1822=)	CACNA1S	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3070259	NM_000069.3(CACNA1S):c.5464C>T (p.Pro1822Ser)	CACNA1S (P1822S)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 392277	NM_000069.3(CACNA1S):c.5462A>G (p.Glu1821Gly)	CACNA1S (E1821G)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +4 more	GUncertain significance
Select item 3576590	NM_000069.3(CACNA1S):c.5459T>C (p.Met1820Thr)	CACNA1S (M1820T)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GUncertain significance
Select item 3386267	NM_000069.3(CACNA1S):c.5454C>T (p.Cys1818=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5	GLikely benign
Select item 3072740	NM_000069.3(CACNA1S):c.5453G>A (p.Cys1818Tyr)	CACNA1S (C1818Y)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3069331	NM_000069.3(CACNA1S):c.5448T>C (p.Asp1816=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5	GLikely benign
Select item 2929111	NM_000069.3(CACNA1S):c.5448T>A (p.Asp1816Glu)	CACNA1S (D1816E)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GUncertain significance
Select item 1678217	NM_000069.3(CACNA1S):c.5441T>C (p.Leu1814Pro)	CACNA1S (L1814P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1387363	NM_000069.3(CACNA1S):c.5437G>A (p.Ala1813Thr)	CACNA1S (A1813T)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 3752496	NM_000069.3(CACNA1S):c.5435A>T (p.Gln1812Leu)	CACNA1S (Q1812L)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +1 more	GUncertain significance
Select item 3069541	NM_000069.3(CACNA1S):c.5432G>A (p.Gly1811Asp)	CACNA1S (G1811D)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3071379	NM_000069.3(CACNA1S):c.5425G>A (p.Ala1809Thr)	CACNA1S (A1809T)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3753576	NM_000069.3(CACNA1S):c.5424G>A (p.Met1808Ile)	CACNA1S (M1808I)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +1 more	GUncertain significance
Select item 1426814	NM_000069.3(CACNA1S):c.5423T>C (p.Met1808Thr)	CACNA1S (M1808T)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 3069963	NM_000069.3(CACNA1S):c.5422A>G (p.Met1808Val)	CACNA1S (M1808V)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 2186203	NM_000069.3(CACNA1S):c.5421C>T (p.Ile1807=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 3075015	NM_000069.3(CACNA1S):c.5419A>T (p.Ile1807Phe)	CACNA1S (I1807F)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3072274	NM_000069.3(CACNA1S):c.5418C>T (p.Phe1806=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3073855	NM_000069.3(CACNA1S):c.5417T>G (p.Phe1806Cys)	CACNA1S (F1806C)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	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 800049	NM_000069.3(CACNA1S):c.5415C>T (p.Asn1805=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign

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