C2749982[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 509209	NM_000069.3(CACNA1S):c.5592C>T (p.Ser1864=)	CACNA1S	Single nucleotide variant (synonymous variant)	not provided +4 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 254851	NM_000069.3(CACNA1S):c.5574C>T (p.Leu1858=)	CACNA1S	Single nucleotide variant (synonymous variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +4 more	GLikely benign
Select item 254850	NM_000069.3(CACNA1S):c.5570G>A (p.Ser1857Asn)	CACNA1S (S1857N)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 294704	NM_000069.3(CACNA1S):c.5554G>A (p.Gly1852Arg)	CACNA1S (G1852R)	Single nucleotide variant (missense variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +3 more	GBenign/Likely benign
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 294705	NM_000069.3(CACNA1S):c.5515C>T (p.Pro1839Ser)	CACNA1S (P1839S)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
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 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 254847	NM_000069.3(CACNA1S):c.5399T>C (p.Leu1800Ser)	CACNA1S (L1800S)	Single nucleotide variant (missense variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +5 more	GBenign
Select item 1099677	NM_000069.3(CACNA1S):c.5394C>A (p.Gly1798=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +3 more	GLikely benign
Select item 254846	NM_000069.3(CACNA1S):c.5371-19C>T	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +4 more	GBenign/Likely benign
Select item 474003	NM_000069.3(CACNA1S):c.5370+10G>A	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5 +4 more	GBenign/Likely benign
Select item 698861	NM_000069.3(CACNA1S):c.5370+7C>T	CACNA1S	Single nucleotide variant (intron variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +3 more	GLikely benign
Select item 846213	NM_000069.3(CACNA1S):c.5303A>G (p.His1768Arg)	CACNA1S (H1768R)	Single nucleotide variant (missense variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +3 more	GUncertain significance
Select item 1507001	NM_000069.3(CACNA1S):c.5299C>T (p.Pro1767Ser)	CACNA1S (P1767S)	Single nucleotide variant (missense variant)	Congenital myopathy 18 +3 more	GConflicting classifications of pathogenicity
Select item 568360	NM_000069.3(CACNA1S):c.5267G>A (p.Ser1756Asn)	CACNA1S (S1756N)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 452887	NM_000069.3(CACNA1S):c.5248A>G (p.Met1750Val)	CACNA1S (M1750V)	Single nucleotide variant (missense variant)	Congenital myopathy 18 +4 more	GUncertain significance
Select item 937413	NM_000069.3(CACNA1S):c.5237T>C (p.Val1746Ala)	CACNA1S (V1746A)	Single nucleotide variant (missense variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +4 more	GUncertain significance
Select item 389563	NM_000069.3(CACNA1S):c.5227-20C>T	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +4 more	GLikely benign
Select item 837079	NM_000069.3(CACNA1S):c.5150C>G (p.Pro1717Arg)	CACNA1S (P1717R)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +4 more	GUncertain significance
Select item 509208	NM_000069.3(CACNA1S):c.5135-4A>G	CACNA1S	Single nucleotide variant (intron variant)	Congenital myopathy 18 +4 more	GLikely benign
Select item 254845	NM_000069.3(CACNA1S):c.5135-7C>T	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5 +5 more	GLikely benign
Select item 254844	NM_000069.3(CACNA1S):c.5134+8C>T	CACNA1S	Single nucleotide variant (intron variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +4 more	GBenign
Select item 947467	NM_000069.3(CACNA1S):c.5125A>G (p.Arg1709Gly)	CACNA1S (R1709G)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +4 more	GUncertain significance
Select item 1419247	NM_000069.3(CACNA1S):c.5101G>A (p.Gly1701Arg)	CACNA1S (G1701R)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 541057	NM_000069.3(CACNA1S):c.5087C>T (p.Thr1696Met)	CACNA1S (T1696M)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 2048532	NM_000069.3(CACNA1S):c.5077G>A (p.Glu1693Lys)	CACNA1S (E1693K)	Single nucleotide variant (missense variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +4 more	GUncertain significance
Select item 680385	NM_000069.3(CACNA1S):c.5048+8C>T	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +4 more	GLikely benign
Select item 294707	NM_000069.3(CACNA1S):c.5020A>C (p.Asn1674His)	CACNA1S (N1674H)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 294708	NM_000069.3(CACNA1S):c.5008T>A (p.Tyr1670Asn)	CACNA1S (Y1670N)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GConflicting classifications of pathogenicity
Select item 515194	NM_000069.3(CACNA1S):c.4996G>A (p.Ala1666Thr)	CACNA1S (A1666T)	Single nucleotide variant (missense variant)	Congenital myopathy 18 +5 more	GConflicting classifications of pathogenicity
Select item 566697	NM_000069.3(CACNA1S):c.4984A>T (p.Asn1662Tyr)	CACNA1S (N1662Y)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 541041	NM_000069.3(CACNA1S):c.4972_4973delinsTA (p.Arg1658Tyr)	CACNA1S (R1658Y)	Indel (missense variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +5 more	GUncertain significance
Select item 254842	NM_000069.3(CACNA1S):c.4973G>A (p.Arg1658His)	CACNA1S (R1658H)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign
Select item 294709	NM_000069.3(CACNA1S):c.4954C>T (p.Arg1652Cys)	CACNA1S (R1652C)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 446964	NM_000069.3(CACNA1S):c.4915G>A (p.Glu1639Lys)	CACNA1S (E1639K)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +5 more	GUncertain significance
Select item 254841	NM_000069.3(CACNA1S):c.4860C>T (p.Pro1620=)	CACNA1S	Single nucleotide variant (synonymous variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +5 more	GBenign
Select item 1435020	NM_000069.3(CACNA1S):c.4796G>A (p.Arg1599Gln)	CACNA1S (R1599Q)	Single nucleotide variant (missense variant)	Congenital myopathy 18 +3 more	GUncertain significance
Select item 294714	NM_000069.3(CACNA1S):c.4747G>A (p.Glu1583Lys)	CACNA1S (E1583K)	Single nucleotide variant (missense variant)	not specified +5 more	GLikely benign
Select item 541073	NM_000069.3(CACNA1S):c.4718C>T (p.Thr1573Met)	CACNA1S (T1573M)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1470215	NM_000069.3(CACNA1S):c.4717A>T (p.Thr1573Ser)	CACNA1S (T1573S)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +4 more	GUncertain significance
Select item 254840	NM_000069.3(CACNA1S):c.4686T>C (p.Ile1562=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia of anesthesia +7 more	GBenign/Likely benign
Select item 2085048	NM_000069.3(CACNA1S):c.4669-6C>T	CACNA1S	Single nucleotide variant (intron variant)	Congenital myopathy 18 +4 more	GLikely benign
Select item 875615	NM_000069.3(CACNA1S):c.4669-11G>A	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5 +4 more	GBenign/Likely benign
Select item 254839	NM_000069.3(CACNA1S):c.4668+19T>C	CACNA1S	Single nucleotide variant (intron variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +4 more	GBenign/Likely benign
Select item 859682	NM_000069.3(CACNA1S):c.4650G>T (p.Lys1550Asn)	CACNA1S (K1550N)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 1320407	NM_000069.3(CACNA1S):c.4616G>T (p.Arg1539Leu)	CACNA1S (R1539L)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 197021	NM_000069.3(CACNA1S):c.4615C>T (p.Arg1539Cys)	CACNA1S (R1539C)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +5 more	GBenign
Select item 391924	NM_000069.3(CACNA1S):c.4572C>T (p.Tyr1524=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5 +5 more	GConflicting classifications of pathogenicity
Select item 844985	NM_000069.3(CACNA1S):c.4569C>G (p.Phe1523Leu)	CACNA1S (F1523L)	Single nucleotide variant (missense variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +4 more	GUncertain significance
Select item 1589321	NM_000069.3(CACNA1S):c.4543+15G>A	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GLikely benign
Select item 254838	NM_000069.3(CACNA1S):c.4543+7G>A	CACNA1S	Single nucleotide variant (intron variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +5 more	GBenign
Select item 446962	NM_000069.3(CACNA1S):c.4543+4G>A	CACNA1S	Single nucleotide variant (intron variant)	Congenital myopathy 18 +4 more	GUncertain significance
Select item 422368	NM_000069.3(CACNA1S):c.4522C>G (p.Gln1508Glu)	CACNA1S (Q1508E)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +4 more	GUncertain significance
Select item 695956	NM_000069.3(CACNA1S):c.4521C>T (p.Asp1507=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GLikely benign
Select item 566816	NM_000069.3(CACNA1S):c.4490T>C (p.Ile1497Thr)	CACNA1S (I1497T)	Single nucleotide variant (missense variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +3 more	GUncertain significance
Select item 541051	NM_000069.3(CACNA1S):c.4468C>T (p.Leu1490=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5 +4 more	GBenign/Likely benign
Select item 294717	NM_000069.3(CACNA1S):c.4441+3G>A	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GUncertain significance
Select item 508778	NM_000069.3(CACNA1S):c.4425C>T (p.Leu1475=)	CACNA1S	Single nucleotide variant (synonymous variant)	Congenital myopathy 18 +4 more	GLikely benign
Select item 838843	NM_000069.3(CACNA1S):c.4419G>A (p.Thr1473=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +4 more	GConflicting classifications of pathogenicity
Select item 515432	NM_000069.3(CACNA1S):c.4377C>T (p.Gly1459=)	CACNA1S	Single nucleotide variant (synonymous variant)	Congenital myopathy 18 +4 more	GConflicting classifications of pathogenicity
Select item 695797	NM_000069.3(CACNA1S):c.4374C>T (p.Asp1458=)	CACNA1S	Single nucleotide variant (synonymous variant)	Congenital myopathy 18 +3 more	GLikely benign
Select item 254837	NM_000069.3(CACNA1S):c.4350C>A (p.Gly1450=)	CACNA1S	Single nucleotide variant (synonymous variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +4 more	GLikely benign
Select item 541040	NM_000069.3(CACNA1S):c.4340G>A (p.Arg1447Gln)	CACNA1S (R1447Q)	Single nucleotide variant (missense variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +4 more	GUncertain significance
Select item 2141841	NM_000069.3(CACNA1S):c.4339C>T (p.Arg1447Trp)	CACNA1S (R1447W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 682330	NM_000069.3(CACNA1S):c.4339-14G>A	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +4 more	GLikely benign
Select item 1584244	NM_000069.3(CACNA1S):c.4338+13G>T	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +3 more	GBenign/Likely benign
Select item 294721	NM_000069.3(CACNA1S):c.4243G>A (p.Gly1415Arg)	CACNA1S (G1415R)	Single nucleotide variant (missense variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +4 more	GUncertain significance
Select item 473994	NM_000069.3(CACNA1S):c.4242G>A (p.Lys1414=)	CACNA1S	Single nucleotide variant (synonymous variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +3 more	GUncertain significance
Select item 1012547	NM_000069.3(CACNA1S):c.4242-4G>A	CACNA1S	Single nucleotide variant (intron variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +3 more	GLikely benign
Select item 1155561	NM_000069.3(CACNA1S):c.4242-5C>T	CACNA1S	Single nucleotide variant (intron variant)	Congenital myopathy 18 +4 more	GLikely benign
Select item 1091672	NM_000069.3(CACNA1S):c.4242-10C>G	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +3 more	GConflicting classifications of pathogenicity
Select item 541065	NM_000069.3(CACNA1S):c.4176C>G (p.Ser1392=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +3 more	GLikely benign
Select item 541037	NM_000069.3(CACNA1S):c.4145A>G (p.Asp1382Gly)	CACNA1S (D1382G)	Single nucleotide variant (missense variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +4 more	GUncertain significance
Select item 390913	NM_000069.3(CACNA1S):c.4114-8T>C	CACNA1S	Single nucleotide variant (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 1157217	NM_000069.3(CACNA1S):c.4113+7_4113+8inv	CACNA1S	Inversion (intron variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GLikely benign
Select item 294722	NM_000069.3(CACNA1S):c.4061C>T (p.Thr1354Ile)	CACNA1S (T1354I)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GUncertain significance
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 705807	NM_000069.3(CACNA1S):c.4032T>C (p.Tyr1344=)	CACNA1S	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 389444	NM_000069.3(CACNA1S):c.4026G>A (p.Ser1342=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5 +4 more	GLikely benign
Select item 1043053	NM_000069.3(CACNA1S):c.4025C>T (p.Ser1342Leu)	CACNA1S (S1342L)	Single nucleotide variant (missense variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +4 more	GUncertain significance
Select item 575619	NM_000069.3(CACNA1S):c.3998G>A (p.Ser1333Asn)	CACNA1S (S1333N)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 645005	NM_000069.3(CACNA1S):c.3983T>G (p.Ile1328Ser)	CACNA1S (I1328S)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +4 more	GUncertain significance
Select item 514368	NM_000069.3(CACNA1S):c.3953+16C>T	CACNA1S	Single nucleotide variant (intron variant)	not specified +4 more	GLikely benign
Select item 384314	NM_000069.3(CACNA1S):c.3953+14G>A	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5 +4 more	GBenign/Likely benign
Select item 254835	NM_000069.3(CACNA1S):c.3953+7G>A	CACNA1S	Single nucleotide variant (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 254834	NM_000069.3(CACNA1S):c.3953+6C>T	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +5 more	GBenign
Select item 1365693	NM_000069.3(CACNA1S):c.3953+5G>A	CACNA1S	Single nucleotide variant (intron variant)	not provided +4 more	GUncertain significance
Select item 1559007	NM_000069.3(CACNA1S):c.3943C>T (p.Leu1315=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +3 more	GLikely benign
Select item 969194	NM_000069.3(CACNA1S):c.3905G>A (p.Arg1302Gln)	CACNA1S (R1302Q)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GUncertain significance
Select item 728353	NM_000069.3(CACNA1S):c.3876C>T (p.Ile1292=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5 +4 more	GLikely benign
Select item 1021634	NM_000069.3(CACNA1S):c.3873G>T (p.Lys1291Asn)	CACNA1S (K1291N)	Single nucleotide variant (missense variant)	Congenital myopathy 18 +3 more	GUncertain significance
Select item 294726	NM_000069.3(CACNA1S):c.3861+14G>T	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GBenign/Likely benign
Select item 254831	NM_000069.3(CACNA1S):c.3822C>T (p.Ile1274=)	CACNA1S	Single nucleotide variant (synonymous variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +5 more	GBenign
Select item 254830	NM_000069.3(CACNA1S):c.3811G>A (p.Ala1271Thr)	CACNA1S (A1271T)	Single nucleotide variant (missense variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +5 more	GBenign
Select item 581768	NM_000069.3(CACNA1S):c.3802C>T (p.Pro1268Ser)	CACNA1S (P1268S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 254829	NM_000069.3(CACNA1S):c.3796-9G>A	CACNA1S	Single nucleotide variant (intron variant)	Congenital myopathy 18 +5 more	GBenign
Select item 254828	NM_000069.3(CACNA1S):c.3796-11C>T	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +4 more	GBenign/Likely benign

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