ClinVar for MedGen (Select 68665) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366938	NM_000334.4(SCN4A):c.808C>G (p.Gln270Glu)	SCN4A (Q270E)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 3251945	NM_000334.4(SCN4A):c.4243G>A (p.Gly1415Ser)	GH-LCR, SCN4A (G1415S)	Single nucleotide variant (missense variant)	Potassium-aggravated myotonia +6 more	GUncertain significance
Select item 3243114	NC_000017.10:g.(?_62034502)_(62034898_?)del	SCN4A	Deletion	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 3065633	NM_000334.4(SCN4A):c.4204C>T (p.Leu1402Phe)	GH-LCR, SCN4A (L1402F)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GLikely pathogenic
Select item 3065019	NM_000334.4(SCN4A):c.336C>G (p.Tyr112Ter)	SCN4A (Y112*)	Single nucleotide variant (nonsense)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 3021148	NM_000334.4(SCN4A):c.612-18C>G	SCN4A	Single nucleotide variant (intron variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 3020921	NM_000334.4(SCN4A):c.611+1G>A	SCN4A	Single nucleotide variant (splice donor variant)	Familial hyperkalemic periodic paralysis	GLikely pathogenic
Select item 3019674	NM_000334.4(SCN4A):c.1868C>T (p.Ala623Val)	SCN4A (A623V)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 3018350	NM_000334.4(SCN4A):c.4127A>C (p.Asn1376Thr)	GH-LCR, SCN4A (N1376T)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 3017803	NM_000334.4(SCN4A):c.2645C>T (p.Pro882Leu)	GH-LCR, SCN4A (P882L)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +1 more	GUncertain significance
Select item 3015973	NM_000334.4(SCN4A):c.1276TTC[1] (p.Phe427del)	SCN4A (F427del)	Microsatellite (inframe_deletion)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 3015881	NM_000334.4(SCN4A):c.600C>A (p.Val200=)	SCN4A	Single nucleotide variant (synonymous variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 3015780	NM_000334.4(SCN4A):c.3218C>A (p.Thr1073Asn)	GH-LCR, SCN4A (T1073N)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 3015125	NM_000334.4(SCN4A):c.3913-14C>A	GH-LCR, SCN4A	Single nucleotide variant (intron variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 3014035	NM_000334.4(SCN4A):c.5282G>A (p.Ser1761Asn)	GH-LCR, SCN4A (S1761N)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 3013438	NM_000334.4(SCN4A):c.4893C>T (p.Ala1631=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 3010869	NM_000334.4(SCN4A):c.1038G>C (p.Gly346=)	SCN4A	Single nucleotide variant (synonymous variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 3010099	NM_000334.4(SCN4A):c.1037-6C>T	SCN4A	Single nucleotide variant (intron variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 3008897	NM_000334.4(SCN4A):c.4018-4G>T	GH-LCR, SCN4A	Single nucleotide variant (intron variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 3007893	NM_000334.4(SCN4A):c.4288+3G>A	GH-LCR, SCN4A	Single nucleotide variant (intron variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 3007447	NM_000334.4(SCN4A):c.2490G>A (p.Lys830=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 3006323	NM_000334.4(SCN4A):c.4288+8G>A	GH-LCR, SCN4A	Single nucleotide variant (intron variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 3003594	NM_000334.4(SCN4A):c.2020-18G>A	GH-LCR, SCN4A	Single nucleotide variant (intron variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 3002444	NM_000334.4(SCN4A):c.5294C>A (p.Ala1765Asp)	GH-LCR, SCN4A (A1765D)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2999829	NM_000334.4(SCN4A):c.1312C>T (p.Leu438Phe)	SCN4A (L438F)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2999040	NM_000334.4(SCN4A):c.2801A>T (p.Glu934Val)	GH-LCR, SCN4A (E934V)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2996701	NM_000334.4(SCN4A):c.3591G>A (p.Arg1197=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 2996670	NM_000334.4(SCN4A):c.4383G>A (p.Leu1461=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 2995738	NM_000334.4(SCN4A):c.1814A>C (p.His605Pro)	SCN4A (H605P)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2995707	NM_000334.4(SCN4A):c.1242+20G>A	SCN4A	Single nucleotide variant (intron variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 2995562	NM_000334.4(SCN4A):c.1606+16C>T	SCN4A	Single nucleotide variant (intron variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 2995419	NM_000334.4(SCN4A):c.2996T>A (p.Val999Glu)	GH-LCR, SCN4A (V999E)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2993177	NM_000334.4(SCN4A):c.3912+20C>T	GH-LCR, SCN4A	Single nucleotide variant (intron variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 2992315	NM_000334.4(SCN4A):c.3300C>T (p.Leu1100=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 2991134	NM_000334.4(SCN4A):c.2460C>T (p.Asn820=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 2989891	NM_000334.4(SCN4A):c.909T>A (p.Asn303Lys)	SCN4A (N303K)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2989197	NM_000334.4(SCN4A):c.1986A>C (p.Val662=)	SCN4A	Single nucleotide variant (synonymous variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 2987718	NM_000334.4(SCN4A):c.992C>T (p.Ala331Val)	SCN4A (A331V)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2987687	NM_000334.4(SCN4A):c.4401C>T (p.Gly1467=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 2986362	NM_000334.4(SCN4A):c.3831C>A (p.Ile1277=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 2984815	NM_000334.4(SCN4A):c.1728G>A (p.Met576Ile)	SCN4A (M576I)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2981587	NM_000334.4(SCN4A):c.611+12C>T	SCN4A	Single nucleotide variant (intron variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 2981006	NM_000334.4(SCN4A):c.1270A>G (p.Met424Val)	SCN4A (M424V)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2975841	NM_000334.4(SCN4A):c.1036+12_1036+23del	SCN4A	Deletion (intron variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 2974227	NM_000334.4(SCN4A):c.1506T>C (p.His502=)	SCN4A	Single nucleotide variant (synonymous variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 2973734	NM_000334.4(SCN4A):c.5413A>G (p.Met1805Val)	GH-LCR, SCN4A (M1805V)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2972710	NM_000334.4(SCN4A):c.315C>A (p.Phe105Leu)	SCN4A (F105L)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2970489	NM_000334.4(SCN4A):c.3912+10A>C	GH-LCR, SCN4A	Single nucleotide variant (intron variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2968930	NM_000334.4(SCN4A):c.483-6C>G	SCN4A	Single nucleotide variant (intron variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2968642	NM_000334.4(SCN4A):c.1425C>T (p.Phe475=)	SCN4A	Single nucleotide variant (synonymous variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 2964920	NM_000334.4(SCN4A):c.1757T>G (p.Ile586Ser)	SCN4A (I586S)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2961946	NM_000334.4(SCN4A):c.1342A>G (p.Met448Val)	SCN4A (M448V)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2956993	NM_000334.4(SCN4A):c.2854-4G>A	GH-LCR, SCN4A	Single nucleotide variant (intron variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 2955771	NM_000334.4(SCN4A):c.943A>C (p.Asn315His)	SCN4A (N315H)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2920444	NM_000334.4(SCN4A):c.2377G>T (p.Val793Phe)	SCN4A, GH-LCR (V793F)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2920059	NM_000334.4(SCN4A):c.514T>G (p.Ser172Ala)	SCN4A (S172A)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2919531	NM_000334.4(SCN4A):c.2567_2568delinsCT (p.Leu856Pro)	GH-LCR, SCN4A (L856P)	Indel (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2918471	NM_000334.4(SCN4A):c.2774C>G (p.Pro925Arg)	GH-LCR, SCN4A (P925R)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2918356	NM_000334.4(SCN4A):c.4518C>T (p.Tyr1506=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 2916779	NM_000334.4(SCN4A):c.3436A>G (p.Met1146Val)	GH-LCR, SCN4A (M1146V)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2916604	NM_000334.4(SCN4A):c.3318+18G>A	GH-LCR, SCN4A	Single nucleotide variant (intron variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 2914402	NM_000334.4(SCN4A):c.379G>A (p.Val127Met)	SCN4A (V127M)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2914175	NM_000334.4(SCN4A):c.2335C>G (p.Leu779Val)	GH-LCR, SCN4A (L779V)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2913566	NM_000334.4(SCN4A):c.1344G>A (p.Met448Ile)	SCN4A (M448I)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2912588	NM_000334.4(SCN4A):c.3318+7C>T	GH-LCR, SCN4A	Single nucleotide variant (intron variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 2912466	NM_000334.4(SCN4A):c.1835T>C (p.Val612Ala)	SCN4A (V612A)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2910494	NM_000334.4(SCN4A):c.1683C>T (p.Cys561=)	SCN4A	Single nucleotide variant (synonymous variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 2910436	NM_000334.4(SCN4A):c.3890A>G (p.Asn1297Ser)	GH-LCR, SCN4A (N1297S)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2910281	NM_000334.4(SCN4A):c.550G>A (p.Asp184Asn)	SCN4A (D184N)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2908656	NM_000334.4(SCN4A):c.4618G>A (p.Gly1540Arg)	GH-LCR, SCN4A (G1540R)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2908506	NM_000334.4(SCN4A):c.1903T>G (p.Tyr635Asp)	SCN4A (Y635D)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2907531	NM_000334.4(SCN4A):c.3868T>C (p.Phe1290Leu)	GH-LCR, SCN4A (F1290L)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2907160	NM_000334.4(SCN4A):c.2805G>A (p.Met935Ile)	GH-LCR, SCN4A (M935I)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2905262	NM_000334.4(SCN4A):c.289A>G (p.Asn97Asp)	SCN4A (N97D)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2904572	NM_000334.4(SCN4A):c.2067C>A (p.Leu689=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 2903729	NM_000334.4(SCN4A):c.3926A>G (p.Asp1309Gly)	GH-LCR, SCN4A (D1309G)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2903497	NM_000334.4(SCN4A):c.2849G>C (p.Ser950Thr)	GH-LCR, SCN4A (S950T)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2903397	NM_000334.4(SCN4A):c.789C>T (p.Val263=)	SCN4A	Single nucleotide variant (synonymous variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 2902069	NM_000334.4(SCN4A):c.2174G>A (p.Ser725Asn)	GH-LCR, SCN4A (S725N)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2899476	NM_000334.4(SCN4A):c.678C>T (p.Ala226=)	SCN4A	Single nucleotide variant (synonymous variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 2896596	NM_000334.4(SCN4A):c.2008_2009delinsAG (p.Ser670=)	SCN4A	Indel (synonymous variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2893675	NM_000334.4(SCN4A):c.703+8G>A	SCN4A	Single nucleotide variant (intron variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 2892007	NM_000334.4(SCN4A):c.5120C>T (p.Ala1707Val)	GH-LCR, SCN4A (A1707V)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2888781	NM_000334.4(SCN4A):c.101AGG[2] (p.Glu36del)	SCN4A (E36del)	Microsatellite (inframe_deletion)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2888460	NM_000334.4(SCN4A):c.225C>T (p.Val75=)	SCN4A	Single nucleotide variant (synonymous variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 2887233	NM_000334.4(SCN4A):c.611+11del	SCN4A	Deletion (intron variant)	Familial hyperkalemic periodic paralysis	GBenign
Select item 2885403	NM_000334.4(SCN4A):c.3598A>G (p.Ile1200Val)	GH-LCR, SCN4A (I1200V)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2885398	NM_000334.4(SCN4A):c.4544A>G (p.Asp1515Gly)	GH-LCR, SCN4A (D1515G)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2876343	NM_000334.4(SCN4A):c.4038G>C (p.Val1346=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 2876139	NM_000334.4(SCN4A):c.1759T>G (p.Cys587Gly)	SCN4A (C587G)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2875742	NM_000334.4(SCN4A):c.95C>T (p.Ala32Val)	SCN4A (A32V)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2873557	NM_000334.4(SCN4A):c.4288+14G>C	GH-LCR, SCN4A	Single nucleotide variant (intron variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 2872733	NM_000334.4(SCN4A):c.3624G>C (p.Glu1208Asp)	GH-LCR, SCN4A (E1208D)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2872608	NM_000334.4(SCN4A):c.3630G>A (p.Glu1210=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 2872545	NM_000334.4(SCN4A):c.3454G>A (p.Ala1152Thr)	GH-LCR, SCN4A (A1152T)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2871822	NM_000334.4(SCN4A):c.1414C>T (p.Leu472Phe)	SCN4A (L472F)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2869947	NM_000334.4(SCN4A):c.3964G>A (p.Ala1322Thr)	GH-LCR, SCN4A (A1322T)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2867637	NM_000334.4(SCN4A):c.1836G>A (p.Val612=)	SCN4A	Single nucleotide variant (synonymous variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2867592	NM_000334.4(SCN4A):c.1125C>T (p.Cys375=)	SCN4A	Single nucleotide variant (synonymous variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 2865882	NM_000334.4(SCN4A):c.1331C>A (p.Ala444Asp)	SCN4A (A444D)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GPathogenic

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