Related gene-specific medical variations for Gene (Select 6329) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3373113	NM_000334.4(SCN4A):c.4654G>C (p.Asp1552His)	GH-LCR, SCN4A (D1552H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372716	NM_000334.4(SCN4A):c.4774A>T (p.Met1592Leu)	SCN4A, GH-LCR (M1592L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370203	NM_000334.4(SCN4A):c.2960G>A (p.Gly987Glu)	GH-LCR, SCN4A (G987E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367850	NM_000334.4(SCN4A):c.2186G>A (p.Cys729Tyr)	GH-LCR, SCN4A (C729Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367816	NM_000334.4(SCN4A):c.4177A>G (p.Ile1393Val)	GH-LCR, SCN4A (I1393V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367726	NM_000334.4(SCN4A):c.4729T>C (p.Phe1577Leu)	GH-LCR, SCN4A (F1577L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3360562	NM_000334.4(SCN4A):c.1147A>G (p.Asn383Asp)	SCN4A (N383D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359347	NM_000334.4(SCN4A):c.2345T>C (p.Phe782Ser)	SCN4A (F782S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3349710	NM_000334.4(SCN4A):c.2974G>T (p.Glu992Ter)	GH-LCR, SCN4A (E992*)	Single nucleotide variant (nonsense)	SCN4A-related disorder	GLikely pathogenic
Select item 3348462	NM_000334.4(SCN4A):c.3255G>T (p.Val1085=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	SCN4A-related disorder	GLikely benign
Select item 3344202	NM_000334.4(SCN4A):c.5045C>A (p.Ala1682Asp)	GH-LCR, SCN4A (A1682D)	Single nucleotide variant (missense variant)	SCN4A-related disorder	GUncertain significance
Select item 3341436	NM_000334.4(SCN4A):c.4784C>G (p.Ala1595Gly)	GH-LCR, SCN4A (A1595G)	Single nucleotide variant (missense variant)	Paramyotonia congenita of Von Eulenburg	GUncertain significance
Select item 3316579	NM_000334.4(SCN4A):c.5477C>T (p.Thr1826Ile)	GH-LCR, SCN4A (T1826I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3316576	NM_000334.4(SCN4A):c.2785G>A (p.Glu929Lys)	GH-LCR, SCN4A (E929K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316573	NM_000334.4(SCN4A):c.2851A>C (p.Lys951Gln)	GH-LCR, SCN4A (K951Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3256756	NM_000334.4(SCN4A):c.5156C>G (p.Thr1719Ser)	GH-LCR, SCN4A (T1719S)	Single nucleotide variant (missense variant)	Potassium-aggravated myotonia	GLikely pathogenic
Select item 3253168	NM_000334.4(SCN4A):c.2838G>C (p.Glu946Asp)	GH-LCR, SCN4A (E946D)	Single nucleotide variant (missense variant)	not provided	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 3234750	NM_000334.4(SCN4A):c.2501G>T (p.Gly834Val)	GH-LCR, SCN4A (G834V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3158539	NM_000334.4(SCN4A):c.4981C>T (p.Leu1661Phe)	GH-LCR, SCN4A (L1661F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158537	NM_000334.4(SCN4A):c.2705G>T (p.Gly902Val)	GH-LCR, SCN4A (G902V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068640	NM_000334.4(SCN4A):c.4527G>C (p.Lys1509Asn)	SCN4A, GH-LCR (K1509N)	Single nucleotide variant (missense variant)	SCN4A-related myopathy, autosomal recessive	GUncertain significance
Select item 3067503	NM_000334.4(SCN4A):c.3275A>G (p.Tyr1092Cys)	GH-LCR, SCN4A (Y1092C)	Single nucleotide variant (missense variant)	not provided	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 3061846	NM_000334.4(SCN4A):c.2168G>T (p.Gly723Val)	GH-LCR, SCN4A (G723V)	Single nucleotide variant (missense variant)	Paramyotonia congenita of Von Eulenburg	GUncertain significance
Select item 3052447	NM_000334.4(SCN4A):c.3699C>G (p.Gly1233=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	SCN4A-related disorder	GLikely benign
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2862568	NM_000334.4(SCN4A):c.3957_3959del (p.Tyr1320del)	GH-LCR, SCN4A (Y1320del)	Deletion (inframe_deletion)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2862390	NM_000334.4(SCN4A):c.5363G>A (p.Ser1788Asn)	GH-LCR, SCN4A (S1788N)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2862383	NM_000334.4(SCN4A):c.4354_4369del (p.Leu1452fs)	GH-LCR, SCN4A (L1452fs)	Deletion (frameshift variant)	Familial hyperkalemic periodic paralysis	GPathogenic
Select item 2859075	NM_000334.4(SCN4A):c.3328A>G (p.Ile1110Val)	GH-LCR, SCN4A (I1110V)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2853091	NM_000334.4(SCN4A):c.2482C>A (p.Arg828Ser)	GH-LCR, SCN4A (R828S)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2852746	NM_000334.4(SCN4A):c.3987G>C (p.Lys1329Asn)	GH-LCR, SCN4A (K1329N)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2852590	NM_000334.4(SCN4A):c.4485C>G (p.Ile1495Met)	GH-LCR, SCN4A (I1495M)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2852253	NM_000334.4(SCN4A):c.3720+19C>T	GH-LCR, SCN4A	Single nucleotide variant (intron variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 2851195	NM_000334.4(SCN4A):c.2989+15C>T	GH-LCR, SCN4A	Single nucleotide variant (intron variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 2848301	NM_000334.4(SCN4A):c.4018-3C>T	GH-LCR, SCN4A	Single nucleotide variant (intron variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2847506	NM_000334.4(SCN4A):c.3402G>A (p.Leu1134=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 2846642	NM_000334.4(SCN4A):c.5403C>A (p.Ala1801=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 2844256	NM_000334.4(SCN4A):c.3442-17G>C	GH-LCR, SCN4A	Single nucleotide variant (intron variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 2842720	NM_000334.4(SCN4A):c.4815A>T (p.Thr1605=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 2841649	NM_000334.4(SCN4A):c.4288+16T>C	GH-LCR, SCN4A	Single nucleotide variant (intron variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 2840993	NM_000334.4(SCN4A):c.3720+6T>C	GH-LCR, SCN4A	Single nucleotide variant (intron variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2836662	NM_000334.4(SCN4A):c.4092C>T (p.Cys1364=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 2835207	NM_000334.4(SCN4A):c.2823C>T (p.Thr941=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 2834665	NM_000334.4(SCN4A):c.2295C>T (p.Thr765=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 2834221	NM_000334.4(SCN4A):c.2989G>A (p.Ala997Thr)	GH-LCR, SCN4A (A997T)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2831921	NM_000334.4(SCN4A):c.5361C>T (p.Ser1787=)	GH-LCR, SCN4A	Single nucleotide variant (synonymous variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 2823015	NM_000334.4(SCN4A):c.4424T>C (p.Leu1475Pro)	GH-LCR, SCN4A (L1475P)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance

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