ClinVar for MedGen (Select 356151) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 2749

<< First< Prev

Page of 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3764013	NM_000069.3(CACNA1S):c.4242-14G>T	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 3763912	NM_000069.3(CACNA1S):c.4621G>A (p.Glu1541Lys)	CACNA1S (E1541K)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +1 more	GUncertain significance
Select item 3763907	NM_000069.3(CACNA1S):c.2170G>A (p.Glu724Lys)	CACNA1S (E724K)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +1 more	GUncertain significance
Select item 3763884	NM_000069.3(CACNA1S):c.2063+13T>C	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 3763797	NM_000069.3(CACNA1S):c.1377G>A (p.Trp459Ter)	CACNA1S (W459*)	Single nucleotide variant (nonsense)	Hypokalemic periodic paralysis, type 1 +1 more	GPathogenic
Select item 3763503	NM_000069.3(CACNA1S):c.5337C>A (p.Cys1779Ter)	CACNA1S (C1779*)	Single nucleotide variant (nonsense)	Hypokalemic periodic paralysis, type 1 +1 more	GUncertain significance
Select item 3763407	NM_000069.3(CACNA1S):c.2657+9C>A	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +1 more	GUncertain significance
Select item 3763402	NM_000069.3(CACNA1S):c.2828C>T (p.Ala943Val)	CACNA1S (A943V)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +1 more	GUncertain significance
Select item 3763368	NM_000069.3(CACNA1S):c.2491-5C>G	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 3763326	NM_000069.3(CACNA1S):c.750A>C (p.Ser250=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 3763250	NM_000069.3(CACNA1S):c.879A>G (p.Gly293=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 3763095	NM_000069.3(CACNA1S):c.1430C>A (p.Thr477Asn)	CACNA1S (T477N)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +1 more	GUncertain significance
Select item 3763042	NM_000069.3(CACNA1S):c.1053G>A (p.Gln351=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 3763022	NM_000069.3(CACNA1S):c.580C>T (p.Leu194Phe)	CACNA1S (L194F)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 3762879	NM_000069.3(CACNA1S):c.1928T>C (p.Ile643Thr)	CACNA1S (I643T)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +1 more	GUncertain significance
Select item 3762681	NM_000069.3(CACNA1S):c.3813T>C (p.Ala1271=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 3762676	NM_000069.3(CACNA1S):c.900+18C>A	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 3762636	NM_000069.3(CACNA1S):c.180C>T (p.Thr60=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 3762598	NM_000069.3(CACNA1S):c.1896C>T (p.Tyr632=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 3762497	NM_000069.3(CACNA1S):c.565A>T (p.Ile189Phe)	CACNA1S (I189F)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +1 more	GUncertain significance
Select item 3762494	NM_000069.3(CACNA1S):c.4800G>A (p.Arg1600=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 3762468	NM_000069.3(CACNA1S):c.2434A>G (p.Ser812Gly)	CACNA1S (S812G)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +1 more	GUncertain significance
Select item 3762452	NM_000069.3(CACNA1S):c.2467C>A (p.Arg823=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 3762388	NM_000069.3(CACNA1S):c.4338+1G>A	CACNA1S	Single nucleotide variant (splice donor variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely pathogenic
Select item 3762315	NM_000069.3(CACNA1S):c.1500C>T (p.Asp500=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 3762286	NM_000069.3(CACNA1S):c.1080T>C (p.Asp360=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 3762268	NM_000069.3(CACNA1S):c.4278G>C (p.Leu1426=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 3762263	NM_000069.3(CACNA1S):c.384C>A (p.Thr128=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 3762175	NM_000069.3(CACNA1S):c.4524G>C (p.Gln1508His)	CACNA1S (Q1508H)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 3762122	NM_000069.3(CACNA1S):c.1280A>G (p.Asp427Gly)	CACNA1S (D427G)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 3762053	NM_000069.3(CACNA1S):c.1339C>G (p.Leu447Val)	CACNA1S (L447V)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 3762039	NM_000069.3(CACNA1S):c.2559C>T (p.Thr853=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 3762026	NM_000069.3(CACNA1S):c.389T>A (p.Val130Asp)	CACNA1S (V130D)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +1 more	GPathogenic
Select item 3762001	NM_000069.3(CACNA1S):c.2350C>T (p.Pro784Ser)	CACNA1S (P784S)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +1 more	GUncertain significance
Select item 3761909	NM_000069.3(CACNA1S):c.3521C>T (p.Ala1174Val)	CACNA1S (A1174V)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +1 more	GUncertain significance
Select item 3761886	NM_000069.3(CACNA1S):c.4979A>G (p.Asn1660Ser)	CACNA1S (N1660S)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +1 more	GUncertain significance
Select item 3761780	NM_000069.3(CACNA1S):c.2490+18C>G	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 3761748	NM_000069.3(CACNA1S):c.5000A>G (p.Asn1667Ser)	CACNA1S (N1667S)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +1 more	GUncertain significance
Select item 3761722	NM_000069.3(CACNA1S):c.4977C>A (p.Ala1659=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 3761680	NM_000069.3(CACNA1S):c.3296G>A (p.Arg1099Lys)	CACNA1S (R1099K)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 3761559	NM_000069.3(CACNA1S):c.3542C>T (p.Pro1181Leu)	CACNA1S (P1181L)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +1 more	GUncertain significance
Select item 3761530	NM_000069.3(CACNA1S):c.5371-14T>A	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 3761405	NM_000069.3(CACNA1S):c.67A>G (p.Ile23Val)	CACNA1S (I23V)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +1 more	GUncertain significance
Select item 3761356	NM_000069.3(CACNA1S):c.2996A>G (p.Asn999Ser)	CACNA1S (N999S)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +1 more	GUncertain significance
Select item 3761353	NM_000069.3(CACNA1S):c.2491-15C>T	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 3761348	NM_000069.3(CACNA1S):c.2361-5del	CACNA1S	Deletion (intron variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 3761309	NM_000069.3(CACNA1S):c.900+19C>T	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 3761209	NM_000069.3(CACNA1S):c.5226+8T>C	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 3761132	NM_000069.3(CACNA1S):c.646G>A (p.Glu216Lys)	CACNA1S (E216K)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 3761052	NM_000069.3(CACNA1S):c.1151-13C>T	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 3760986	NM_000069.3(CACNA1S):c.2787G>A (p.Gly929=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 3760938	NM_000069.3(CACNA1S):c.259-18C>G	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 3760936	NM_000069.3(CACNA1S):c.4078T>C (p.Tyr1360His)	CACNA1S (Y1360H)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +1 more	GUncertain significance
Select item 3760914	NM_000069.3(CACNA1S):c.2535G>C (p.Val845=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 3760830	NM_000069.3(CACNA1S):c.4718C>A (p.Thr1573Lys)	CACNA1S (T1573K)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 3760717	NM_000069.3(CACNA1S):c.108G>A (p.Leu36=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 3760673	NM_000069.3(CACNA1S):c.3255+17C>T	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 3760607	NM_000069.3(CACNA1S):c.2907-19C>G	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 3760582	NM_000069.3(CACNA1S):c.2854-20C>G	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 3760574	NM_000069.3(CACNA1S):c.1255C>T (p.Arg419Cys)	CACNA1S (R419C)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +1 more	GUncertain significance
Select item 3760515	NM_000069.3(CACNA1S):c.4620A>C (p.Gln1540His)	CACNA1S (Q1540H)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 3760485	NM_000069.3(CACNA1S):c.695-11T>C	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 3760246	NM_000069.3(CACNA1S):c.3526-17A>G	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 3760189	NM_000069.3(CACNA1S):c.3630G>C (p.Gly1210=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 3760168	NM_000069.3(CACNA1S):c.2688GAGGGTGCT[1] (p.898VLR[1])	CACNA1S	Microsatellite (inframe_deletion)	Hypokalemic periodic paralysis, type 1 +1 more	GUncertain significance
Select item 3759927	NM_000069.3(CACNA1S):c.4953A>G (p.Pro1651=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 3759780	NM_000069.3(CACNA1S):c.4363del (p.Pro1454_Leu1455insTer)	CACNA1S	Deletion (nonsense)	Hypokalemic periodic paralysis, type 1 +1 more	GPathogenic
Select item 3759612	NM_000069.3(CACNA1S):c.63T>C (p.Pro21=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 3759195	NM_000069.3(CACNA1S):c.1731C>G (p.Gly577=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 3759010	NM_000069.3(CACNA1S):c.2987A>T (p.His996Leu)	CACNA1S (H996L)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +1 more	GUncertain significance
Select item 3759009	NM_000069.3(CACNA1S):c.4242-8T>C	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 3759008	NM_000069.3(CACNA1S):c.403T>C (p.Phe135Leu)	CACNA1S (F135L)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +1 more	GUncertain significance
Select item 3758951	NM_000069.3(CACNA1S):c.1298TCT[1] (p.Phe434del)	CACNA1S (F434del)	Microsatellite (inframe_deletion)	Hypokalemic periodic paralysis, type 1 +1 more	GUncertain significance
Select item 3758773	NM_000069.3(CACNA1S):c.4026G>C (p.Ser1342=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 3758766	NM_000069.3(CACNA1S):c.5302C>T (p.His1768Tyr)	CACNA1S (H1768Y)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +1 more	GUncertain significance
Select item 3758708	NM_000069.3(CACNA1S):c.4086C>T (p.Ile1362=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 3758658	NM_000069.3(CACNA1S):c.5216C>G (p.Ala1739Gly)	CACNA1S (A1739G)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +1 more	GUncertain significance
Select item 3758167	NM_000069.3(CACNA1S):c.2658G>T (p.Glu886Asp)	CACNA1S (E886D)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +1 more	GUncertain significance
Select item 3757119	NM_000069.3(CACNA1S):c.988C>T (p.Leu330=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 3756994	NM_000069.3(CACNA1S):c.399-7A>G	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 3756890	NM_000069.3(CACNA1S):c.1005-1G>A	CACNA1S	Single nucleotide variant (splice acceptor variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely pathogenic
Select item 3756526	NM_000069.3(CACNA1S):c.4362C>A (p.Pro1454=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 3756196	NM_000069.3(CACNA1S):c.1374C>A (p.Leu458=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 3755955	NM_000069.3(CACNA1S):c.3747G>A (p.Arg1249=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 3755940	NM_000069.3(CACNA1S):c.4798-12_4798-10del	CACNA1S	Deletion (intron variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 3755793	NM_000069.3(CACNA1S):c.3339C>A (p.Tyr1113Ter)	CACNA1S (Y1113*)	Single nucleotide variant (nonsense)	Malignant hyperthermia, susceptibility to, 5 +1 more	GPathogenic
Select item 3755658	NM_000069.3(CACNA1S):c.4669-20A>G	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 3755215	NM_000069.3(CACNA1S):c.2228-17TC[6]	CACNA1S	Microsatellite (intron variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 3754286	NM_000069.3(CACNA1S):c.2676G>A (p.Val892=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 3753921	NM_000069.3(CACNA1S):c.612C>G (p.Leu204=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 3753577	NM_000069.3(CACNA1S):c.5197A>G (p.Arg1733Gly)	CACNA1S (R1733G)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +1 more	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 3753236	NM_000069.3(CACNA1S):c.1749G>C (p.Gly583=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 3753184	NM_000069.3(CACNA1S):c.4063A>G (p.Asn1355Asp)	CACNA1S (N1355D)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +1 more	GUncertain significance
Select item 3753009	NM_000069.3(CACNA1S):c.2746-13C>A	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 3752976	NM_000069.3(CACNA1S):c.1758C>A (p.Asp586Glu)	CACNA1S (D586E)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +1 more	GUncertain significance
Select item 3752966	NM_000069.3(CACNA1S):c.1619+12G>T	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 3752928	NM_000069.3(CACNA1S):c.1285G>T (p.Val429Leu)	CACNA1S (V429L)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +1 more	GUncertain significance
Select item 3752834	NM_000069.3(CACNA1S):c.358A>G (p.Ser120Gly)	CACNA1S (S120G)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +1 more	GUncertain significance
Select item 3752550	NM_000069.3(CACNA1S):c.1949-6G>C	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign

<< First< Prev

Page of 28