SPTAN1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1271655	NM_001130438.3(SPTAN1):c.-3-18C>T	SPTAN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2126641	NM_001130438.3(SPTAN1):c.6C>T (p.Asp2=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 521110	NM_001130438.3(SPTAN1):c.21A>T (p.Lys7Asn)	SPTAN1 (K7N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2627514	NM_001130438.3(SPTAN1):c.37G>C (p.Glu13Gln)	SPTAN1 (E13Q +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5	GUncertain significance
Select item 763509	NM_001130438.3(SPTAN1):c.45C>T (p.Ile15=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1136288	NM_001130438.3(SPTAN1):c.47A>G (p.Gln16Arg)	SPTAN1 (Q16R +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 740513	NM_001130438.3(SPTAN1):c.55C>A (p.Arg19=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 427111	NM_001130438.3(SPTAN1):c.55C>T (p.Arg19Trp)	SPTAN1 (R19W)	Single nucleotide variant (missense variant)	Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia +3 more	GConflicting classifications of pathogenicity
Select item 2700523	NM_001130438.3(SPTAN1):c.56G>A (p.Arg19Gln)	SPTAN1 (R31Q +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2034072	NM_001130438.3(SPTAN1):c.58dup (p.Gln20fs)	SPTAN1 (Q20fs +1 more)	Duplication (frameshift variant)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 1590039	NM_001130438.3(SPTAN1):c.57G>A (p.Arg19=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2821759	NM_001130438.3(SPTAN1):c.69A>T (p.Leu23=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1684519	NM_001130438.3(SPTAN1):c.73C>T (p.Arg25Ter)	SPTAN1 (R25* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 976180	NM_001130438.3(SPTAN1):c.74G>A (p.Arg25Gln)	SPTAN1 (R25Q +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5 +1 more	GUncertain significance
Select item 856729	NM_001130438.3(SPTAN1):c.82C>T (p.Arg28Cys)	SPTAN1 (R28C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 590192	NM_001130438.3(SPTAN1):c.83G>A (p.Arg28His)	SPTAN1 (R28H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1120884	NM_001130438.3(SPTAN1):c.84C>T (p.Arg28=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 461240	NM_001130438.3(SPTAN1):c.89A>G (p.Lys30Arg)	SPTAN1 (K30R)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1643711	NM_001130438.3(SPTAN1):c.96C>G (p.Leu32=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 764760	NM_001130438.3(SPTAN1):c.96C>T (p.Leu32=)	SPTAN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896342	NM_001130438.3(SPTAN1):c.104T>G (p.Leu35Arg)	SPTAN1 (L35R +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 378645	NM_001130438.3(SPTAN1):c.108G>A (p.Arg36=)	SPTAN1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 1378280	NM_001130438.3(SPTAN1):c.109C>T (p.Arg37Cys)	SPTAN1 (R49C +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1482472	NM_001130438.3(SPTAN1):c.110G>A (p.Arg37His)	SPTAN1 (R49H +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 416897	NM_001130438.3(SPTAN1):c.111T>A (p.Arg37=)	SPTAN1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 390514	NM_001130438.3(SPTAN1):c.117G>A (p.Lys39=)	SPTAN1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1088488	NM_001130438.3(SPTAN1):c.120G>A (p.Leu40=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 3066258	NM_001130438.3(SPTAN1):c.121G>T (p.Glu41Ter)	SPTAN1 (E41* +1 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 5	GLikely pathogenic
Select item 391311	NM_001130438.3(SPTAN1):c.126T>C (p.Asp42=)	SPTAN1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 2857483	NM_001130438.3(SPTAN1):c.129C>A (p.Ser43=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1631951	NM_001130438.3(SPTAN1):c.129C>T (p.Ser43=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1975753	NM_001130438.3(SPTAN1):c.130T>C (p.Tyr44His)	SPTAN1 (Y56H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 195127	NM_001130438.3(SPTAN1):c.131A>G (p.Tyr44Cys)	SPTAN1 (Y44C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5 +2 more	GUncertain significance
Select item 2856248	NM_001130438.3(SPTAN1):c.133C>A (p.Arg45=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1308193	NM_001130438.3(SPTAN1):c.133C>T (p.Arg45Ter)	SPTAN1 (R45* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 386469	NM_001130438.3(SPTAN1):c.134G>A (p.Arg45Gln)	SPTAN1 (R45Q)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 1805232	NM_001130438.3(SPTAN1):c.136T>C (p.Phe46Leu)	SPTAN1 (F46L +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5	GUncertain significance
Select item 2661987	NM_001130438.3(SPTAN1):c.148C>A (p.Gln50Lys)	SPTAN1 (Q50K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 583157	NM_001130438.3(SPTAN1):c.154G>A (p.Asp52Asn)	SPTAN1 (D52N)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2632235	NM_001130438.3(SPTAN1):c.155A>G (p.Asp52Gly)	SPTAN1 (D52G +1 more)	Single nucleotide variant (missense variant)	SPTAN1-related disorder	GUncertain significance
Select item 3364699	NM_001130438.3(SPTAN1):c.158C>G (p.Ala53Gly)	SPTAN1 (A53G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2162013	NM_001130438.3(SPTAN1):c.159T>A (p.Ala53=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 3169487	NM_001130438.3(SPTAN1):c.164A>T (p.Glu55Val)	SPTAN1 (E67V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1366026	NM_001130438.3(SPTAN1):c.190C>T (p.Leu64Phe)	SPTAN1 (L76F +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 833736	NM_001130438.3(SPTAN1):c.190C>A (p.Leu64Ile)	SPTAN1 (L64I +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1627872	NM_001130438.3(SPTAN1):c.195G>A (p.Gln65=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2201379	NM_001130438.3(SPTAN1):c.201A>G (p.Ala67=)	SPTAN1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1123420	NM_001130438.3(SPTAN1):c.201A>T (p.Ala67=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 3018995	NM_001130438.3(SPTAN1):c.210G>A (p.Glu70=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1450075	NM_001130438.3(SPTAN1):c.227C>T (p.Thr76Ile)	SPTAN1 (T88I +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 212295	NM_001130438.3(SPTAN1):c.237+4C>T	SPTAN1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 5 +3 more	GConflicting classifications of pathogenicity
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 1131826	NM_001130438.3(SPTAN1):c.237+9G>C	SPTAN1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 207256	NM_001130438.3(SPTAN1):c.237+10A>G	SPTAN1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 1537754	NM_001130438.3(SPTAN1):c.237+11T>G	SPTAN1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GBenign
Select item 2413391	NM_001130438.3(SPTAN1):c.237+12C>T	SPTAN1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1203797	NM_001130438.3(SPTAN1):c.237+216G>A	SPTAN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217594	NM_001130438.3(SPTAN1):c.237+300TTTTG[3]	SPTAN1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 680786	NM_001130438.3(SPTAN1):c.237+335G>A	SPTAN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2176077	NM_001130438.3(SPTAN1):c.238-13G>A	SPTAN1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 378646	NM_001130438.3(SPTAN1):c.238-9C>T	SPTAN1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 3023057	NM_001130438.3(SPTAN1):c.238-8G>T	SPTAN1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1086161	NM_001130438.3(SPTAN1):c.238-8G>A	SPTAN1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2976582	NM_001130438.3(SPTAN1):c.252G>A (p.Lys84=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2070115	NM_001130438.3(SPTAN1):c.276G>A (p.Val92=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1077413	NM_001130438.3(SPTAN1):c.279G>A (p.Gln93=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2119306	NM_001130438.3(SPTAN1):c.282C>T (p.Ala94=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1100732	NM_001130438.3(SPTAN1):c.285C>T (p.Asn95=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2721293	NM_001130438.3(SPTAN1):c.288A>G (p.Ser96=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2436395	NM_001130438.3(SPTAN1):c.296T>C (p.Ile99Thr)	SPTAN1 (I111T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2897649	NM_001130438.3(SPTAN1):c.298G>A (p.Val100Ile)	SPTAN1 (V112I +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 982637	NM_001130438.3(SPTAN1):c.305T>G (p.Leu102Arg)	SPTAN1 (L102R +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 2659537	NM_001130438.3(SPTAN1):c.315_316insA (p.Gly106fs)	SPTAN1 (G106fs +1 more)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 509734	NM_001130438.3(SPTAN1):c.315T>C (p.Thr105=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely benign
Select item 625454	NM_001130438.3(SPTAN1):c.316G>A (p.Gly106Arg)	SPTAN1 (G106R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5	GLikely pathogenic
Select item 1433840	NM_001130438.3(SPTAN1):c.322C>G (p.Leu108Val)	SPTAN1 (L120V +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2981792	NM_001130438.3(SPTAN1):c.348A>G (p.Ala116=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1414852	NM_001130438.3(SPTAN1):c.353A>C (p.Glu118Ala)	SPTAN1 (E118A +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1384977	NM_001130438.3(SPTAN1):c.356C>T (p.Thr119Ile)	SPTAN1 (T131I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 789505	NM_001130438.3(SPTAN1):c.357C>T (p.Thr119=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 643190	NM_001130438.3(SPTAN1):c.358A>G (p.Ile120Val)	SPTAN1 (I120V)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
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 1959237	NM_001130438.3(SPTAN1):c.363_363+18dup	SPTAN1	Duplication (splice donor variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 624368	NM_001130438.3(SPTAN1):c.361C>T (p.Arg121Trp)	SPTAN1 (R121W)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 461222	NM_001130438.3(SPTAN1):c.362G>T (p.Arg121Leu)	SPTAN1 (R121L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5 +2 more	GConflicting classifications of pathogenicity
Select item 933879	NM_001130438.3(SPTAN1):c.363G>A (p.Arg121=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 436850	NM_001130438.3(SPTAN1):c.363+1G>A	SPTAN1	Single nucleotide variant (splice donor variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2759844	NM_001130438.3(SPTAN1):c.363+3G>A	SPTAN1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1410340	NM_001130438.3(SPTAN1):c.363+7A>G	SPTAN1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2111646	NM_001130438.3(SPTAN1):c.363+14G>A	SPTAN1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1583258	NM_001130438.3(SPTAN1):c.363+17C>T	SPTAN1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2124291	NM_001130438.3(SPTAN1):c.363+18G>T	SPTAN1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1586472	NM_001130438.3(SPTAN1):c.363+18G>A	SPTAN1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 670130	NM_001130438.3(SPTAN1):c.363+144C>T	SPTAN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680787	NM_001130438.3(SPTAN1):c.363+274A>G	SPTAN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265255	NM_001130438.3(SPTAN1):c.364-304G>T	SPTAN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1661218	NM_001130438.3(SPTAN1):c.364-20C>T	SPTAN1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1535776	NM_001130438.3(SPTAN1):c.364-19T>C	SPTAN1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1551105	NM_001130438.3(SPTAN1):c.364-14T>A	SPTAN1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign

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