"SPTAN1-related condition"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2632235	NM_001130438.3(SPTAN1):c.155A>G (p.Asp52Gly)	SPTAN1 (D52G +1 more)	Single nucleotide variant (missense variant)	SPTAN1-related condition	GUncertain significance
Select item 3050539	NM_001130438.3(SPTAN1):c.600T>C (p.Ala200=)	SPTAN1	Single nucleotide variant (synonymous variant)	SPTAN1-related condition	GLikely benign
Select item 207313	NM_001130438.3(SPTAN1):c.615T>A (p.Val205=)	SPTAN1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 1491080	NM_001130438.3(SPTAN1):c.969G>C (p.Gln323His)	SPTAN1 (Q335H +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 590182	NM_001130438.3(SPTAN1):c.1242A>G (p.Glu414=)	SPTAN1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
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 1582863	NM_001130438.3(SPTAN1):c.1527C>T (p.His509=)	SPTAN1	Single nucleotide variant (synonymous variant)	SPTAN1-related condition +1 more	GLikely benign
Select item 2632174	NM_001130438.3(SPTAN1):c.1666A>G (p.Asn556Asp)	SPTAN1 (N556D +1 more)	Single nucleotide variant (missense variant)	SPTAN1-related condition	GUncertain significance
Select item 207263	NM_001130438.3(SPTAN1):c.1688T>C (p.Met563Thr)	SPTAN1 (M563T)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 2632885	NM_001130438.3(SPTAN1):c.1727A>G (p.Gln576Arg)	SPTAN1 (Q576R +1 more)	Single nucleotide variant (missense variant)	SPTAN1-related condition	GLikely pathogenic
Select item 139272	NM_001130438.3(SPTAN1):c.1737C>T (p.Phe579=)	SPTAN1	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 2630798	NM_001130438.3(SPTAN1):c.1939G>T (p.Asp647Tyr)	SPTAN1 (D647Y +1 more)	Single nucleotide variant (missense variant)	SPTAN1-related condition	GUncertain significance
Select item 1119702	NM_001130438.3(SPTAN1):c.2043G>A (p.Gln681=)	SPTAN1	Single nucleotide variant (synonymous variant)	SPTAN1-related condition +1 more	GLikely benign
Select item 207267	NM_001130438.3(SPTAN1):c.2233C>A (p.Gln745Lys)	SPTAN1 (Q745K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 2154605	NM_001130438.3(SPTAN1):c.2302G>T (p.Ala768Ser)	SPTAN1 (A780S +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 2636249	NM_001130438.3(SPTAN1):c.2401C>T (p.Arg801Ter)	SPTAN1 (R801* +1 more)	Single nucleotide variant (nonsense)	SPTAN1-related condition	GLikely pathogenic
Select item 1257305	NM_001130438.3(SPTAN1):c.2421C>T (p.Ala807=)	SPTAN1	Single nucleotide variant (synonymous variant)	SPTAN1-related condition +2 more	GLikely benign
Select item 416895	NM_001130438.3(SPTAN1):c.2928C>T (p.Tyr976=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely benign
Select item 3049104	NM_001130438.3(SPTAN1):c.2931C>T (p.Asp977=)	SPTAN1	Single nucleotide variant (synonymous variant)	SPTAN1-related condition	GLikely benign
Select item 212296	NM_001130438.3(SPTAN1):c.3042T>G (p.Gly1014=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +5 more	GConflicting classifications of pathogenicity
Select item 1719920	NM_001130438.3(SPTAN1):c.3542G>T (p.Arg1181Met)	SPTAN1 (R1161M +2 more)	Single nucleotide variant (missense variant)	SPTAN1-related condition +1 more	GUncertain significance
Select item 501381	NM_001130438.3(SPTAN1):c.3580-5_3580-2del	SPTAN1	Microsatellite (splice acceptor variant)	SPTAN1-related condition +3 more	GConflicting classifications of pathogenicity
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 3047448	NM_001130438.3(SPTAN1):c.3661C>A (p.Leu1221Met)	SPTAN1 (L1201M +2 more)	Single nucleotide variant (missense variant)	SPTAN1-related condition	GUncertain significance
Select item 167720	NM_001130438.3(SPTAN1):c.3720-5T>G	SPTAN1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 5 +5 more	GBenign/Likely benign
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 207334	NM_001130438.3(SPTAN1):c.4046+5G>A	SPTAN1	Single nucleotide variant (intron variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 160012	NM_001130438.3(SPTAN1):c.4199A>T (p.Gln1400Leu)	SPTAN1 (Q1400L +1 more)	Single nucleotide variant (missense variant)	SPTAN1-related condition +4 more	GConflicting classifications of pathogenicity
Select item 365168	NM_001130438.3(SPTAN1):c.4239C>T (p.Ser1413=)	SPTAN1	Single nucleotide variant (synonymous variant)	SPTAN1-related condition +3 more	GLikely benign
Select item 196861	NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly)	SPTAN1 (A1428G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 2436393	NM_001130438.3(SPTAN1):c.4435A>G (p.Ser1479Gly)	SPTAN1 (S1459G +2 more)	Single nucleotide variant (missense variant)	SPTAN1-related condition +2 more	GUncertain significance
Select item 588959	NM_001130438.3(SPTAN1):c.4524C>T (p.Ala1508=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GLikely benign
Select item 380654	NM_001130438.3(SPTAN1):c.4540G>A (p.Ala1514Thr)	SPTAN1 (A1514T +1 more)	Single nucleotide variant (missense variant)	SPTAN1-related condition +3 more	GBenign/Likely benign
Select item 196941	NM_001130438.3(SPTAN1):c.4580A>G (p.Asn1527Ser)	SPTAN1 (N1527S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 139291	NM_001130438.3(SPTAN1):c.4595+4G>T	SPTAN1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 5 +5 more	GBenign/Likely benign
Select item 565751	NM_001130438.3(SPTAN1):c.4758+3A>C	SPTAN1	Single nucleotide variant (intron variant)	SPTAN1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 1079062	NM_001130438.3(SPTAN1):c.4758+10A>T	SPTAN1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely benign
Select item 530556	NM_001130438.3(SPTAN1):c.4821C>T (p.Asn1607=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely benign
Select item 429871	NM_001130438.3(SPTAN1):c.4828C>T (p.Arg1610Trp)	SPTAN1 (R1610W +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5 +2 more	GPathogenic/Likely pathogenic
Select item 389011	NM_001130438.3(SPTAN1):c.5301A>G (p.Glu1767=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GLikely benign
Select item 461229	NM_001130438.3(SPTAN1):c.5433C>T (p.His1811=)	SPTAN1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2630172	NM_001130438.3(SPTAN1):c.5517C>A (p.Asn1839Lys)	SPTAN1 (N1814K +4 more)	Single nucleotide variant (missense variant)	SPTAN1-related condition	GUncertain significance
Select item 139302	NM_001130438.3(SPTAN1):c.5552C>T (p.Ala1851Val)	SPTAN1 (A1851V +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5 +5 more	GBenign
Select item 1135184	NM_001130438.3(SPTAN1):c.5817A>G (p.Gln1939=)	SPTAN1	Single nucleotide variant (synonymous variant)	SPTAN1-related condition +2 more	GLikely benign
Select item 2014801	NM_001130438.3(SPTAN1):c.6019_6020del (p.Thr2006_Asp2007insTer)	SPTAN1	Deletion (nonsense)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic/Likely pathogenic
Select item 2635306	NM_001130438.3(SPTAN1):c.6113T>A (p.Ile2038Asn)	SPTAN1 (I2013N +4 more)	Single nucleotide variant (missense variant)	SPTAN1-related condition	GUncertain significance
Select item 160024	NM_001130438.3(SPTAN1):c.6616GAG[1] (p.Glu2207del)	SPTAN1 (E2207del +5 more)	Microsatellite (inframe_deletion)	Developmental and epileptic encephalopathy, 5 +3 more	GPathogenic/Likely pathogenic
Select item 139311	NM_001130438.3(SPTAN1):c.6660C>T (p.Asn2220=)	SPTAN1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 5 +5 more	GBenign/Likely benign
Select item 2633155	NM_001130438.3(SPTAN1):c.6707+1164_6708-1168dup	SPTAN1	Duplication (intron variant +1 more)	SPTAN1-related condition	GUncertain significance
Select item 530566	NM_001130438.3(SPTAN1):c.6726G>A (p.Glu2242=)	SPTAN1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 238540	NM_001130438.3(SPTAN1):c.6763C>T (p.Arg2255Cys)	SPTAN1 (R2255C +4 more)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 1391770	NM_001130438.3(SPTAN1):c.6863C>T (p.Thr2288Met)	SPTAN1 (T2283M +8 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 378666	NM_001130438.3(SPTAN1):c.6864G>A (p.Thr2288=)	SPTAN1	Single nucleotide variant (synonymous variant)	SPTAN1-related condition +2 more	GLikely benign
Select item 160028	NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3])	SPTAN1	Microsatellite (inframe_insertion)	SPTAN1-related condition +4 more	GPathogenic/Likely pathogenic
Select item 3057540	NM_001130438.3(SPTAN1):c.6960-4C>T	SPTAN1	Single nucleotide variant (intron variant)	SPTAN1-related condition	GLikely benign
Select item 2632173	NM_001130438.3(SPTAN1):c.7014-1G>C	SPTAN1	Single nucleotide variant (splice acceptor variant)	SPTAN1-related condition	GUncertain significance
Select item 139314	NM_001130438.3(SPTAN1):c.7146G>A (p.Thr2382=)	SPTAN1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 5 +5 more	GBenign/Likely benign
Select item 139316	NM_001130438.3(SPTAN1):c.7161-9C>T	SPTAN1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts +4 more	GConflicting classifications of pathogenicity
Select item 388528	NM_001130438.3(SPTAN1):c.7248C>T (p.Ser2416=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GLikely benign
Select item 207307	NM_001130438.3(SPTAN1):c.7284C>T (p.Tyr2428=)	SPTAN1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 5 +4 more	GBenign/Likely benign
Select item 696469	NM_001130438.3(SPTAN1):c.7296G>A (p.Glu2432=)	SPTAN1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 207366	NM_001130438.3(SPTAN1):c.7402G>A (p.Val2468Met)	SPTAN1 (V2468M +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 3034431	NM_001130438.3(SPTAN1):c.7405_7407del (p.Glu2469del)	SPTAN1 (E2444del +8 more)	Deletion (inframe deletion)	SPTAN1-related condition	GUncertain significance

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Items: 63