6334[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 153751	GRCh38/hg38 12q13.12-13.13(chr12:50122359-53248460)x1	LOC130007898, LOC130007899 +206 more	Copy number loss	See cases	GPathogenic
Select item 152062	GRCh38/hg38 12q13.12-13.13(chr12:50633888-52851909)x1	ACVR1B, ACVRL1 +136 more	Copy number loss	See cases	GPathogenic
Select item 3029905	NM_001330260.2(SCN8A):c.-70CGC[3]	SCN8A	Microsatellite (5 prime UTR variant)	SCN8A-related disorder	GLikely benign
Select item 207103	NM_001330260.2(SCN8A):c.-67C>T	SCN8A	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 379153	NM_001330260.2(SCN8A):c.-61C>T	SCN8A	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1266367	NM_001330260.2(SCN8A):c.-55+12C>T	SCN8A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 509397	NM_001330260.2(SCN8A):c.-55+13A>G	SCN8A	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 381890	NM_001330260.2(SCN8A):c.-55+20C>G	SCN8A	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1210841	NM_001330260.2(SCN8A):c.-54-4C>G	LOC114803470, SCN8A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 583466	NC_000012.12:g.(?_51662798)_(51688869_?)del	LOC114803470, SCN8A	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
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 461351	NM_001330260.2(SCN8A):c.8C>T (p.Ala3Val)	LOC114803470, SCN8A (A3V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 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 449257	NM_001330260.2(SCN8A):c.11G>A (p.Arg4Gln)	LOC114803470, SCN8A (R4Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 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 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 589120	NM_001330260.2(SCN8A):c.35A>G (p.Asp12Gly)	LOC114803470, SCN8A (D12G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 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 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 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 641963	NM_001330260.2(SCN8A):c.51C>G (p.Phe17Leu)	LOC114803470, SCN8A (F17L)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
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 871342	NM_001330260.2(SCN8A):c.56_57del (p.Pro19fs)	LOC114803470, SCN8A (P19fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
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 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 643084	NM_001330260.2(SCN8A):c.70A>G (p.Asn24Asp)	LOC114803470, SCN8A (N24D)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 626165	NM_001330260.2(SCN8A):c.71A>G (p.Asn24Ser)	LOC114803470, SCN8A (N24S)	Single nucleotide variant (missense variant)	Cognitive impairment with or without cerebellar ataxia +5 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 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 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 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 1993923	NM_001330260.2(SCN8A):c.85A>C (p.Ile29Leu)	LOC114803470, SCN8A (I29L)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	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 647828	NM_001330260.2(SCN8A):c.95G>A (p.Ser32Asn)	LOC114803470, SCN8A (S32N)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
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 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 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 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 378552	NM_001330260.2(SCN8A):c.120C>T (p.Ala40=)	LOC114803470, SCN8A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 207137	NM_001330260.2(SCN8A):c.134G>A (p.Arg45Gln)	LOC114803470, SCN8A (R45Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 139075	NM_001330260.2(SCN8A):c.141C>T (p.Asp47=)	LOC114803470, SCN8A	Single nucleotide variant (synonymous variant)	Myoclonus, familial, 2 +6 more	GBenign/Likely benign
Select item 426406	NM_001330260.2(SCN8A):c.142G>A (p.Asp48Asn)	LOC114803470, SCN8A (D48N)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 1775482	NM_001330260.2(SCN8A):c.156G>A (p.Lys52=)	LOC114803470, SCN8A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
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 392945	NM_001330260.2(SCN8A):c.158C>G (p.Pro53Arg)	LOC114803470, SCN8A (P53R)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
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 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 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 1695686	NM_001330260.2(SCN8A):c.168C>G (p.Asn56Lys)	LOC114803470, SCN8A (N56K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1618418	NM_001330260.2(SCN8A):c.168C>T (p.Asn56=)	LOC114803470, SCN8A	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 589596	NM_001330260.2(SCN8A):c.177G>A (p.Leu59=)	LOC114803470, SCN8A	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
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 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 385247	NM_001330260.2(SCN8A):c.195G>A (p.Leu65=)	LOC114803470, SCN8A	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely benign
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 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 212135	NM_001330260.2(SCN8A):c.202A>G (p.Ile68Val)	LOC114803470, SCN8A (I68V)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 3371018	NM_001330260.2(SCN8A):c.206A>G (p.Tyr69Cys)	LOC114803470, SCN8A (Y69C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 413880	NM_001330260.2(SCN8A):c.207C>T (p.Tyr69=)	LOC114803470, SCN8A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 452224	NM_001330260.2(SCN8A):c.208G>A (p.Gly70Arg)	LOC114803470, SCN8A (G70R)	Single nucleotide variant (missense variant)	not provided	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 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 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 639816	NM_001330260.2(SCN8A):c.218C>T (p.Pro73Leu)	LOC114803470, SCN8A (P73L)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
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 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 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 764029	NM_001330260.2(SCN8A):c.240C>G (p.Pro80=)	LOC114803470, SCN8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 1318989	NM_001330260.2(SCN8A):c.260A>G (p.Tyr87Cys)	LOC114803470, SCN8A (Y87C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 633542	NM_001330260.2(SCN8A):c.261C>G (p.Tyr87Ter)	LOC114803470, SCN8A (Y87*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
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 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 668464	NM_001330260.2(SCN8A):c.270G>A (p.Thr90=)	LOC114803470, SCN8A	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 195293	NM_001330260.2(SCN8A):c.270G>T (p.Thr90=)	LOC114803470, SCN8A	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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 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 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 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 1255195	NM_001330260.2(SCN8A):c.277-47A>G	SCN8A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 512614	NM_001330260.2(SCN8A):c.277-23TC[2]	SCN8A	Microsatellite (intron variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely benign
Select item 665657	NC_000012.12:g.(?_51684154)_(51701227_?)del	SCN8A	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 2183614	NM_001330260.2(SCN8A):c.277-18C>G	SCN8A	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2077908	NM_001330260.2(SCN8A):c.277-10_277-7del	SCN8A	Microsatellite (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance

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