"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "SPTAN1"[ge - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 427111	NM_001130438.3(SPTAN1):c.55C>T (p.Arg19Trp)	SPTAN1 (R19W)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GConflicting classifications of pathogenicity
Select item 3027070	NM_001130438.3(SPTAN1):c.128C>A (p.Ser43Tyr)	SPTAN1 (S43Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 949574	NM_001130438.3(SPTAN1):c.237+5G>A	SPTAN1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely benign
Select item 2659537	NM_001130438.3(SPTAN1):c.315_316insA (p.Gly106fs)	SPTAN1 (G106fs +1 more)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 2673193	NM_001130438.3(SPTAN1):c.360A>G (p.Ile120Met)	SPTAN1 (I120M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 624368	NM_001130438.3(SPTAN1):c.361C>T (p.Arg121Trp)	SPTAN1 (R121W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 378647	NM_001130438.3(SPTAN1):c.480C>T (p.Asp160=)	SPTAN1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 946050	NM_001130438.3(SPTAN1):c.497A>G (p.Asn166Ser)	SPTAN1 (N178S +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 810430	NM_001130438.3(SPTAN1):c.528G>T (p.Glu176Asp)	SPTAN1 (E188D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 207314	NM_001130438.3(SPTAN1):c.641A>G (p.Lys214Arg)	SPTAN1 (K214R)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +4 more	GConflicting classifications of pathogenicity
Select item 139264	NM_001130438.3(SPTAN1):c.652-6G>A	SPTAN1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GBenign/Likely benign
Select item 2885334	NM_001130438.3(SPTAN1):c.725G>C (p.Gly242Ala)	SPTAN1 (G242A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 576053	NM_001130438.3(SPTAN1):c.776G>A (p.Arg259His)	SPTAN1 (R259H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5 +2 more	GUncertain significance
Select item 2659538	NM_001130438.3(SPTAN1):c.807T>C (p.Ser269=)	SPTAN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1559994	NM_001130438.3(SPTAN1):c.852C>T (p.Gly284=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely benign
Select item 1657543	NM_001130438.3(SPTAN1):c.939C>T (p.Ala313=)	SPTAN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2571338	NM_001130438.3(SPTAN1):c.1006C>T (p.Arg336Ter)	SPTAN1 (R336* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 159993	NM_001130438.3(SPTAN1):c.1303T>G (p.Ser435Ala)	SPTAN1 (S435A)	Single nucleotide variant (missense variant)	SPTAN1-related condition +5 more	GBenign/Likely benign
Select item 1103607	NM_001130438.3(SPTAN1):c.1329C>T (p.Thr443=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely benign
Select item 139269	NM_001130438.3(SPTAN1):c.1330G>A (p.Val444Ile)	SPTAN1 (V444I)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +4 more	GBenign/Likely benign
Select item 386679	NM_001130438.3(SPTAN1):c.1338C>T (p.Ser446=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely benign
Select item 207318	NM_001130438.3(SPTAN1):c.1362G>C (p.Glu454Asp)	SPTAN1 (E454D)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +4 more	GBenign/Likely benign
Select item 159994	NM_001130438.3(SPTAN1):c.1389C>T (p.Tyr463=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GConflicting classifications of pathogenicity
Select item 194026	NM_001130438.3(SPTAN1):c.1511C>T (p.Ala504Val)	SPTAN1 (A504V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 378653	NM_001130438.3(SPTAN1):c.1512G>A (p.Ala504=)	SPTAN1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 2583070	NM_001130438.3(SPTAN1):c.1642C>T (p.Arg548Ter)	SPTAN1 (R548* +1 more)	Single nucleotide variant (nonsense)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic
Select item 1549662	NM_001130438.3(SPTAN1):c.1653G>A (p.Leu551=)	SPTAN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 381358	NM_001130438.3(SPTAN1):c.1667A>G (p.Asn556Ser)	SPTAN1 (N556S)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +4 more	GConflicting classifications of pathogenicity
Select item 207264	NM_001130438.3(SPTAN1):c.1689G>T (p.Met563Ile)	SPTAN1 (M563I)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GConflicting classifications of pathogenicity
Select item 139272	NM_001130438.3(SPTAN1):c.1737C>T (p.Phe579=)	SPTAN1	Single nucleotide variant (synonymous variant)	SPTAN1-related condition +5 more	GBenign/Likely benign
Select item 810431	NM_001130438.3(SPTAN1):c.1886A>G (p.Asp629Gly)	SPTAN1 (D629G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499106	NM_001130438.3(SPTAN1):c.1903G>A (p.Gly635Ser)	SPTAN1 (G635S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 624369	NM_001130438.3(SPTAN1):c.1916T>C (p.Ile639Thr)	SPTAN1 (I639T)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GUncertain significance
Select item 872095	NM_001130438.3(SPTAN1):c.1959G>C (p.Met653Ile)	SPTAN1 (M665I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 810432	NM_001130438.3(SPTAN1):c.2091A>G (p.Val697=)	SPTAN1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 949328	NM_001130438.3(SPTAN1):c.2171A>G (p.Glu724Gly)	SPTAN1 (E724G +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 1100756	NM_001130438.3(SPTAN1):c.2316C>G (p.Pro772=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely benign
Select item 2659539	NM_001130438.3(SPTAN1):c.2328G>A (p.Arg776=)	SPTAN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 207268	NM_001130438.3(SPTAN1):c.2344G>A (p.Asp782Asn)	SPTAN1 (D782N)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GBenign/Likely benign
Select item 1207885	NM_001130438.3(SPTAN1):c.2353C>T (p.Arg785Trp)	SPTAN1 (R785W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2659540	NM_001130438.3(SPTAN1):c.2378T>C (p.Val793Ala)	SPTAN1 (V793A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 810433	NM_001130438.3(SPTAN1):c.2428A>C (p.Thr810Pro)	SPTAN1 (T822P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2659541	NM_001130438.3(SPTAN1):c.2491G>A (p.Ala831Thr)	SPTAN1 (A831T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1565169	NM_001130438.3(SPTAN1):c.2538G>A (p.Lys846=)	SPTAN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 448475	NM_001130438.3(SPTAN1):c.2599G>A (p.Glu867Lys)	SPTAN1 (E867K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5 +2 more	GConflicting classifications of pathogenicity
Select item 139278	NM_001130438.3(SPTAN1):c.2610A>G (p.Gln870=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +4 more	GConflicting classifications of pathogenicity
Select item 1335740	NM_001130438.3(SPTAN1):c.2647C>T (p.Arg883Trp)	SPTAN1 (R883W +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 1954445	NM_001130438.3(SPTAN1):c.2648G>A (p.Arg883Gln)	SPTAN1 (R895Q +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 2659542	NM_001130438.3(SPTAN1):c.2673G>A (p.Gln891=)	SPTAN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 139279	NM_001130438.3(SPTAN1):c.2700C>T (p.Asn900=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +4 more	GBenign/Likely benign
Select item 810434	NM_001130438.3(SPTAN1):c.2701G>A (p.Glu901Lys)	SPTAN1 (E901K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 425464	NM_001130438.3(SPTAN1):c.2746A>G (p.Thr916Ala)	SPTAN1 (T916A)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GUncertain significance
Select item 381139	NM_001130438.3(SPTAN1):c.2796C>T (p.His932=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely benign
Select item 139281	NM_001130438.3(SPTAN1):c.2880G>A (p.Val960=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +4 more	GBenign/Likely benign
Select item 160005	NM_001130438.3(SPTAN1):c.2889G>A (p.Thr963=)	SPTAN1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 207275	NM_001130438.3(SPTAN1):c.3057G>A (p.Ala1019=)	SPTAN1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 3067741	NM_001130438.3(SPTAN1):c.3147T>A (p.Ile1049=)	SPTAN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1149111	NM_001130438.3(SPTAN1):c.3183T>C (p.Ser1061=)	SPTAN1	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely benign
Select item 378658	NM_001130438.3(SPTAN1):c.3186A>T (p.Val1062=)	SPTAN1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 854884	NM_001130438.3(SPTAN1):c.3194G>A (p.Arg1065His)	SPTAN1 (R1065H +1 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GUncertain significance
Select item 383861	NM_001130438.3(SPTAN1):c.3235C>G (p.Leu1079Val)	SPTAN1 (L1079V +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5 +3 more	GBenign/Likely benign
Select item 207280	NM_001130438.3(SPTAN1):c.3518A>C (p.Gln1173Pro)	SPTAN1 (Q1173P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 2659543	NM_001130438.3(SPTAN1):c.3579+1223G>A	SPTAN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2149581	NM_001130438.3(SPTAN1):c.3587G>A (p.Arg1196His)	SPTAN1 (R1196H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 461221	NM_001130438.3(SPTAN1):c.3604G>A (p.Val1202Met)	SPTAN1 (V1202M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 387836	NM_001130438.3(SPTAN1):c.3639G>A (p.Glu1213=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GLikely benign
Select item 810435	NM_001130438.3(SPTAN1):c.3641G>A (p.Arg1214His)	SPTAN1 (R1194H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 167720	NM_001130438.3(SPTAN1):c.3720-5T>G	SPTAN1	Single nucleotide variant (intron variant)	SPTAN1-related condition +5 more	GBenign/Likely benign
Select item 2579073	NM_001130438.3(SPTAN1):c.3865-6C>T	SPTAN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1175801	NM_001130438.3(SPTAN1):c.3868A>C (p.Asn1290His)	SPTAN1 (N1270H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2659544	NM_001130438.3(SPTAN1):c.3910C>T (p.Pro1304Ser)	SPTAN1 (P1284S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 139287	NM_001130438.3(SPTAN1):c.3912C>T (p.Pro1304=)	SPTAN1	Single nucleotide variant (synonymous variant)	SPTAN1-related condition +4 more	GBenign/Likely benign
Select item 139288	NM_001130438.3(SPTAN1):c.3970C>T (p.Leu1324=)	SPTAN1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 2673194	NM_001130438.3(SPTAN1):c.3985G>A (p.Asp1329Asn)	SPTAN1 (D1309N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 207286	NM_001130438.3(SPTAN1):c.4039G>A (p.Asp1347Asn)	SPTAN1 (D1347N +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GConflicting classifications of pathogenicity
Select item 1132014	NM_001130438.3(SPTAN1):c.4128A>T (p.Ala1376=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely benign
Select item 1147607	NM_001130438.3(SPTAN1):c.4164C>T (p.Ile1388=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely benign
Select item 810436	NM_001130438.3(SPTAN1):c.4220C>G (p.Ala1407Gly)	SPTAN1 (A1387G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 139289	NM_001130438.3(SPTAN1):c.4224C>T (p.His1408=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +4 more	GBenign/Likely benign
Select item 588906	NM_001130438.3(SPTAN1):c.4252C>A (p.Gln1418Lys)	SPTAN1 (Q1418K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 196861	NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly)	SPTAN1 (A1428G +2 more)	Single nucleotide variant (missense variant)	SPTAN1-related condition +5 more	GBenign/Likely benign
Select item 378660	NM_001130438.3(SPTAN1):c.4536C>T (p.Ile1512=)	SPTAN1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 384162	NM_001130438.3(SPTAN1):c.4551T>C (p.Tyr1517=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GBenign/Likely benign
Select item 196942	NM_001130438.3(SPTAN1):c.4558G>A (p.Gly1520Arg)	SPTAN1 (G1520R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 196941	NM_001130438.3(SPTAN1):c.4580A>G (p.Asn1527Ser)	SPTAN1 (N1527S +1 more)	Single nucleotide variant (missense variant)	SPTAN1-related condition +4 more	GConflicting classifications of pathogenicity
Select item 638004	NM_001130438.3(SPTAN1):c.4976T>C (p.Leu1659Pro)	SPTAN1 (L1659P +3 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GUncertain significance
Select item 432499	NM_001130438.3(SPTAN1):c.5206G>A (p.Asp1736Asn)	SPTAN1 (D1736N +3 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 207343	NM_001130438.3(SPTAN1):c.5239A>G (p.Ile1747Val)	SPTAN1 (I1747V +3 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GBenign/Likely benign
Select item 1701583	NM_001130438.3(SPTAN1):c.5262C>T (p.Ile1754=)	SPTAN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 416899	NM_001130438.3(SPTAN1):c.5322C>T (p.Phe1774=)	SPTAN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 139299	NM_001130438.3(SPTAN1):c.5460G>A (p.Ala1820=)	SPTAN1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 139300	NM_001130438.3(SPTAN1):c.5478+12G>A	SPTAN1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GConflicting classifications of pathogenicity
Select item 2659545	NM_001130438.3(SPTAN1):c.5493T>A (p.Thr1831=)	SPTAN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 139302	NM_001130438.3(SPTAN1):c.5552C>T (p.Ala1851Val)	SPTAN1 (A1851V +3 more)	Single nucleotide variant (missense variant)	SPTAN1-related condition +5 more	GBenign
Select item 797915	NM_001130438.3(SPTAN1):c.5553G>A (p.Ala1851=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely benign
Select item 207296	NM_001130438.3(SPTAN1):c.5648A>G (p.Asn1883Ser)	SPTAN1 (N1883S +3 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GConflicting classifications of pathogenicity
Select item 139303	NM_001130438.3(SPTAN1):c.5775C>T (p.Thr1925=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +4 more	GBenign/Likely benign
Select item 3025345	NM_001130438.3(SPTAN1):c.5826T>A (p.Ile1942=)	SPTAN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2571339	NM_001130438.3(SPTAN1):c.5992+42T>C	SPTAN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 365174	NM_001130438.3(SPTAN1):c.6078T>C (p.Phe2026=)	SPTAN1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign

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