Related gene-specific medical variations for Gene (Select 6334) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2911827	NM_001330260.2(SCN8A):c.217C>T (p.Pro73Ser)	LOC114803470, SCN8A (P73S)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2842575	NM_001330260.2(SCN8A):c.191G>A (p.Ser64Asn)	LOC114803470, SCN8A (S64N)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2814663	NM_001330260.2(SCN8A):c.216C>T (p.Ile72=)	LOC114803470, SCN8A	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2813018	NM_001330260.2(SCN8A):c.269C>G (p.Thr90Arg)	LOC114803470, SCN8A (T90R)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2805502	NM_001330260.2(SCN8A):c.276+15G>A	LOC114803470, SCN8A	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2784268	NM_001330260.2(SCN8A):c.258A>G (p.Pro86=)	LOC114803470, SCN8A	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2769674	NM_001330260.2(SCN8A):c.272A>T (p.Gln91Leu)	LOC114803470, SCN8A (Q91L)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2769532	NM_001330260.2(SCN8A):c.274A>C (p.Lys92Gln)	LOC114803470, SCN8A (K92Q)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2765994	NM_001330260.2(SCN8A):c.276+1G>A	LOC114803470, SCN8A	Single nucleotide variant (splice donor variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely pathogenic
Select item 2717040	NM_001330260.2(SCN8A):c.159C>T (p.Pro53=)	LOC114803470, SCN8A	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2690491	NM_001330260.2(SCN8A):c.4408C>G (p.Gln1470Glu)	SCN8A (Q1429E +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2582519	NM_001330260.2(SCN8A):c.2935_2936delinsAA (p.Ser979Asn)	SCN8A (S979N)	Indel (missense variant)	Myoclonus, familial, 2 +3 more	GLikely pathogenic
Select item 2582310	NM_001330260.2(SCN8A):c.4082C>G (p.Ser1361Cys)	SCN8A (S1320C +1 more)	Single nucleotide variant (missense variant)	Myoclonus, familial, 2 +3 more	GUncertain significance
Select item 2575995	NM_001330260.2(SCN8A):c.5636C>A (p.Ser1879Tyr)	SCN8A (S1838Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573050	NM_001330260.2(SCN8A):c.109_137del (p.Pro37fs)	LOC114803470, SCN8A (P37fs)	Deletion (frameshift variant)	Cognitive impairment with or without cerebellar ataxia	GLikely pathogenic
Select item 2573030	NM_001330260.2(SCN8A):c.4017dup (p.Ile1340fs)	SCN8A (I1299fs +1 more)	Duplication (frameshift variant)	Cognitive impairment with or without cerebellar ataxia	GLikely pathogenic
Select item 2435770	NM_001330260.2(SCN8A):c.3244G>T (p.Asp1082Tyr)	SCN8A (D1082Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435769	NM_001330260.2(SCN8A):c.2901+35C>A	SCN8A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2435768	NM_001330260.2(SCN8A):c.1893C>T (p.Pro631=)	SCN8A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2435766	NM_001330260.2(SCN8A):c.1437A>T (p.Glu479Asp)	SCN8A (E479D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435765	NM_001330260.2(SCN8A):c.1816C>T (p.Arg606Trp)	SCN8A (R606W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435764	NM_001330260.2(SCN8A):c.615-247dup	SCN8A	Duplication (intron variant +1 more)	not provided	GUncertain significance
Select item 2435762	NM_001330260.2(SCN8A):c.3151G>C (p.Ala1051Pro)	SCN8A (A1051P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435761	NM_001330260.2(SCN8A):c.3377T>G (p.Leu1126Arg)	SCN8A (L1126R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2310196	NM_001330260.2(SCN8A):c.273G>C (p.Gln91His)	LOC114803470, SCN8A (Q91H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2049290	NM_001330260.2(SCN8A):c.234A>G (p.Ala78=)	LOC114803470, SCN8A	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1998528	NM_001330260.2(SCN8A):c.276+9G>T	LOC114803470, SCN8A	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1993923	NM_001330260.2(SCN8A):c.85A>C (p.Ile29Leu)	LOC114803470, SCN8A (I29L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1992396	NM_001330260.2(SCN8A):c.2225T>C (p.Leu742Pro)	SCN8A (L742P)	Single nucleotide variant (missense variant)	Cognitive impairment with or without cerebellar ataxia	GUncertain significance
Select item 1992391	NM_001330260.2(SCN8A):c.2167T>G (p.Trp723Gly)	SCN8A (W723G)	Single nucleotide variant (missense variant)	Cognitive impairment with or without cerebellar ataxia	GUncertain significance
Select item 1971014	NM_001330260.2(SCN8A):c.48T>C (p.Pro16=)	LOC114803470, SCN8A	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1803067	NM_001330260.2(SCN8A):c.4871T>G (p.Ile1624Ser)	SCN8A (I1583S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GLikely pathogenic
Select item 1803066	NM_001330260.2(SCN8A):c.778T>G (p.Phe260Val)	SCN8A (F260V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GLikely pathogenic
Select item 1803064	NM_001330260.2(SCN8A):c.2934C>A (p.Ser978Arg)	SCN8A (S978R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GLikely pathogenic
Select item 1775482	NM_001330260.2(SCN8A):c.156G>A (p.Lys52=)	LOC114803470, SCN8A	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1755517	NM_001330260.2(SCN8A):c.67G>T (p.Ala23Ser)	LOC114803470, SCN8A (A23S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1700989	NM_001330260.2(SCN8A):c.133C>T (p.Arg45Trp)	LOC114803470, SCN8A (R45W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1696571	NM_001330260.2(SCN8A):c.3245A>T (p.Asp1082Val)	SCN8A (D1082V)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 5 +2 more	GUncertain significance
Select item 1695686	NM_001330260.2(SCN8A):c.168C>G (p.Asn56Lys)	LOC114803470, SCN8A (N56K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1679749	NM_001330260.2(SCN8A):c.1264C>A (p.Leu422Met)	SCN8A (L422M)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 5 +3 more	GUncertain significance
Select item 1618418	NM_001330260.2(SCN8A):c.168C>T (p.Asn56=)	LOC114803470, SCN8A	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1588798	NM_001330260.2(SCN8A):c.36T>C (p.Asp12=)	LOC114803470, SCN8A	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1584325	NM_001330260.2(SCN8A):c.9G>A (p.Ala3=)	LOC114803470, SCN8A	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1555167	NM_001330260.2(SCN8A):c.81G>A (p.Arg27=)	LOC114803470, SCN8A	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1531802	NM_001330260.2(SCN8A):c.249C>T (p.Asp83=)	LOC114803470, SCN8A	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1509801	NM_001330260.2(SCN8A):c.222A>G (p.Gln74=)	LOC114803470, SCN8A	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1508927	NM_001330260.2(SCN8A):c.4G>A (p.Ala2Thr)	LOC114803470, SCN8A (A2T)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1452117	NM_001330260.2(SCN8A):c.276+12G>A	LOC114803470, SCN8A	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1407272	NM_001330260.2(SCN8A):c.83G>A (p.Arg28His)	LOC114803470, SCN8A (R28H)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1406835	NM_001330260.2(SCN8A):c.100C>T (p.Leu34Phe)	LOC114803470, SCN8A (L34F)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1383175	NM_001330260.2(SCN8A):c.88G>A (p.Ala30Thr)	LOC114803470, SCN8A (A30T)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1357529	NM_001330260.2(SCN8A):c.119C>T (p.Ala40Val)	LOC114803470, SCN8A (A40V)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1352375	NM_001330260.2(SCN8A):c.82C>T (p.Arg28Cys)	LOC114803470, SCN8A (R28C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1342316	NM_001330260.2(SCN8A):c.2901+2T>C	SCN8A	Single nucleotide variant (splice donor variant)	Seizures, benign familial infantile, 5 +1 more	GPathogenic
Select item 1341785	NM_001330260.2(SCN8A):c.3820-1G>T	SCN8A	Single nucleotide variant (splice acceptor variant +1 more)	Cognitive impairment with or without cerebellar ataxia +1 more	GUncertain significance
Select item 1329653	NM_001330260.2(SCN8A):c.197C>G (p.Pro66Arg)	LOC114803470, SCN8A (P66R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1326397	NM_001330260.2(SCN8A):c.276A>G (p.Lys92=)	LOC114803470, SCN8A	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 1320794	NM_001330260.2(SCN8A):c.182C>T (p.Ala61Val)	LOC114803470, SCN8A (A61V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319791	NM_001330260.2(SCN8A):c.1064C>T (p.Thr355Ile)	SCN8A (T355I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319790	NM_001330260.2(SCN8A):c.1168T>A (p.Phe390Ile)	SCN8A (F390I)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1319789	NM_001330260.2(SCN8A):c.2792G>A (p.Arg931Gln)	SCN8A (R931Q)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1318989	NM_001330260.2(SCN8A):c.260A>G (p.Tyr87Cys)	LOC114803470, SCN8A (Y87C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1318212	NM_001330260.2(SCN8A):c.19G>C (p.Ala7Pro)	LOC114803470, SCN8A (A7P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1317384	NM_001330260.2(SCN8A):c.21A>C (p.Ala7=)	LOC114803470, SCN8A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1210841	NM_001330260.2(SCN8A):c.-54-4C>G	LOC114803470, SCN8A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1174109	NM_001330260.2(SCN8A):c.4264G>A (p.Ala1422Thr)	SCN8A (A1381T +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GLikely pathogenic
Select item 1157400	NM_001330260.2(SCN8A):c.241C>T (p.Leu81=)	LOC114803470, SCN8A	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1135514	NM_001330260.2(SCN8A):c.261C>T (p.Tyr87=)	LOC114803470, SCN8A	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1124235	NM_001330260.2(SCN8A):c.15G>C (p.Leu5=)	LOC114803470, SCN8A	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1064214	NM_001330260.2(SCN8A):c.36T>G (p.Asp12Glu)	LOC114803470, SCN8A (D12E)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1063414	NM_001330260.2(SCN8A):c.50_55del (p.Phe17_Pro19delinsSer)	LOC114803470, SCN8A	Deletion (inframe_indel)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 1059636	NM_001330260.2(SCN8A):c.60G>C (p.Glu20Asp)	LOC114803470, SCN8A (E20D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1051925	NM_001330260.2(SCN8A):c.80G>A (p.Arg27Lys)	LOC114803470, SCN8A (R27K)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1048639	NM_001330260.2(SCN8A):c.4328A>G (p.Tyr1443Cys)	SCN8A (Y1402C +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GLikely pathogenic
Select item 1047178	NM_001330260.2(SCN8A):c.56C>G (p.Pro19Arg)	LOC114803470, SCN8A (P19R)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1045321	NM_001330260.2(SCN8A):c.157C>T (p.Pro53Ser)	LOC114803470, SCN8A (P53S)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1025969	NM_001330260.2(SCN8A):c.117G>C (p.Lys39Asn)	LOC114803470, SCN8A (K39N)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1020681	NM_001330260.2(SCN8A):c.10C>T (p.Arg4Trp)	LOC114803470, SCN8A (R4W)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 996906	NM_001330260.2(SCN8A):c.2491G>A (p.Glu831Lys)	SCN8A (E831K)	Single nucleotide variant (missense variant)	Cognitive impairment with or without cerebellar ataxia	GLikely pathogenic
Select item 995416	NM_001330260.2(SCN8A):c.2531G>A (p.Arg844Gln)	SCN8A (R844Q)	Single nucleotide variant (missense variant)	Cognitive impairment with or without cerebellar ataxia	GLikely pathogenic
Select item 978140	NM_001330260.2(SCN8A):c.235G>A (p.Val79Ile)	LOC114803470, SCN8A (V79I)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 975769	NM_001330260.2(SCN8A):c.2633T>C (p.Leu878Pro)	SCN8A (L878P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GLikely pathogenic
Select item 964512	NM_001330260.2(SCN8A):c.31C>A (p.Pro11Thr)	LOC114803470, SCN8A (P11T)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 931684	NM_001330260.2(SCN8A):c.197C>A (p.Pro66His)	LOC114803470, SCN8A (P66H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GUncertain significance
Select item 930337	NM_001330260.2(SCN8A):c.2617G>T (p.Gly873Cys)	SCN8A (G873C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GLikely pathogenic
Select item 929393	GRCh37/hg19 12q13.13(chr12:51946335-52024220)x1	SCN8A	Copy number loss	See cases	GLikely pathogenic
Select item 871345	NM_001330260.2(SCN8A):c.979A>C (p.Ser327Arg)	SCN8A (S327R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 871342	NM_001330260.2(SCN8A):c.56_57del (p.Pro19fs)	LOC114803470, SCN8A (P19fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 870199	NM_001330260.2(SCN8A):c.160A>C (p.Lys54Gln)	LOC114803470, SCN8A (K54Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GUncertain significance
Select item 869443	NM_001330260.2(SCN8A):c.5375G>A (p.Trp1792Ter)	SCN8A (W1751* +1 more)	Single nucleotide variant (nonsense)	Cognitive impairment with or without cerebellar ataxia	GUncertain significance
Select item 863208	NM_001330260.2(SCN8A):c.269C>T (p.Thr90Met)	LOC114803470, SCN8A (T90M)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 850466	NM_001330260.2(SCN8A):c.47C>T (p.Pro16Leu)	LOC114803470, SCN8A (P16L)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 838632	NM_001330260.2(SCN8A):c.213C>A (p.Asp71Glu)	LOC114803470, SCN8A (D71E)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 837746	NM_001330260.2(SCN8A):c.276+4A>T	LOC114803470, SCN8A	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 793223	NM_014191.3:c.-54-?_*5435+?dup	SCN8A	Duplication	not provided	GLikely benign
Select item 764029	NM_001330260.2(SCN8A):c.240C>G (p.Pro80=)	LOC114803470, SCN8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 756543	NM_001330260.2(SCN8A):c.162G>A (p.Lys54=)	LOC114803470, SCN8A	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 696249	NM_001330260.2(SCN8A):c.171C>T (p.Ser57=)	LOC114803470, SCN8A	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 668464	NM_001330260.2(SCN8A):c.270G>A (p.Thr90=)	LOC114803470, SCN8A	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 647828	NM_001330260.2(SCN8A):c.95G>A (p.Ser32Asn)	LOC114803470, SCN8A (S32N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

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