ClinVar 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 3372092	NM_000334.4(SCN4A):c.749T>A (p.Leu250Gln)	SCN4A (L250Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371909	NM_000334.4(SCN4A):c.509T>C (p.Phe170Ser)	SCN4A (F170S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371581	NM_000334.4(SCN4A):c.817A>C (p.Met273Leu)	SCN4A (M273L)	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 3342116	NM_000334.4(SCN4A):c.876C>T (p.Thr292=)	SCN4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3338939	NM_000334.4(SCN4A):c.703+5T>C	SCN4A	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3338061	NM_000334.4(SCN4A):c.486_487insGGCG (p.Thr163fs)	SCN4A (T163fs)	Insertion (frameshift variant)	Potassium-aggravated myotonia	GLikely pathogenic
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 3316578	NM_000334.4(SCN4A):c.1624C>G (p.Gln542Glu)	SCN4A (Q542E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316577	NM_000334.4(SCN4A):c.243G>C (p.Glu81Asp)	SCN4A (E81D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3316575	NM_000334.4(SCN4A):c.883T>A (p.Tyr295Asn)	SCN4A (Y295N)	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 3158535	NM_000334.4(SCN4A):c.1480G>A (p.Gly494Arg)	SCN4A (G494R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158534	NM_000334.4(SCN4A):c.133A>G (p.Met45Val)	SCN4A (M45V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3148898	GRCh37/hg19 17q23.2-23.3(chr17:58596397-62540700)x3	ACE, APPBP2 +43 more	Copy number gain	See cases	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 3052876	NM_000334.4(SCN4A):c.2019+10A>C	SCN4A	Single nucleotide variant (intron variant)	SCN4A-related disorder	GLikely benign
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 3045428	NM_000334.4(SCN4A):c.117G>T (p.Leu39=)	SCN4A	Single nucleotide variant (synonymous variant)	SCN4A-related disorder	GLikely benign
Select item 3041638	NM_000334.4(SCN4A):c.612-7T>A	SCN4A	Single nucleotide variant (intron variant)	SCN4A-related disorder	GLikely benign
Select item 3033345	NM_000334.4(SCN4A):c.226A>T (p.Ile76Phe)	SCN4A (I76F)	Single nucleotide variant (missense variant)	SCN4A-related disorder	GUncertain significance
Select item 3031233	NM_000334.4(SCN4A):c.483-4C>A	SCN4A	Single nucleotide variant (intron variant)	SCN4A-related disorder	GLikely benign
Select item 3029424	NM_000334.4(SCN4A):c.867C>T (p.Asp289=)	SCN4A	Single nucleotide variant (synonymous variant)	SCN4A-related disorder	GLikely benign
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

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