"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar

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Items: 34

	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)	not provided +4 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 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 1325796	NM_001130438.3(SPTAN1):c.533G>A (p.Gly178Asp)	SPTAN1 (G178D +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5	GLikely pathogenic
Select item 1325797	NM_001130438.3(SPTAN1):c.917C>T (p.Ala306Val)	SPTAN1 (A306V +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5	GLikely pathogenic
Select item 3068483	NM_001130438.3(SPTAN1):c.1462-2A>G	SPTAN1	Single nucleotide variant (splice acceptor variant)	Developmental and epileptic encephalopathy, 5	GLikely pathogenic
Select item 983118	NM_001130438.3(SPTAN1):c.2197C>T (p.Arg733Ter)	SPTAN1 (R733* +1 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 5	GUncertain significance
Select item 976054	NM_001130438.3(SPTAN1):c.2612del (p.Lys871fs)	SPTAN1 (K871fs +1 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 5	GUncertain significance
Select item 953167	NM_001130438.3(SPTAN1):c.2617G>A (p.Glu873Lys)	SPTAN1 (E873K +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5 +1 more	GUncertain significance
Select item 976415	NM_001130438.3(SPTAN1):c.2815C>T (p.Leu939Phe)	SPTAN1 (L939F +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5	GUncertain significance
Select item 521064	NM_001130438.3(SPTAN1):c.3716A>G (p.His1239Arg)	SPTAN1 (H1239R +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5 +1 more	GConflicting classifications of pathogenicity
Select item 196861	NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly)	SPTAN1 (A1428G +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5 +4 more	GBenign/Likely benign
Select item 1325814	NM_001130438.3(SPTAN1):c.4344G>A (p.Gln1448=)	SPTAN1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 5	GLikely benign
Select item 976098	NM_001130438.3(SPTAN1):c.4455A>C (p.Lys1485Asn)	SPTAN1 (K1465N +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5	GUncertain significance
Select item 1804136	NM_001130438.3(SPTAN1):c.4561G>T (p.Asp1521Tyr)	SPTAN1 (D1501Y +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5	GUncertain significance
Select item 429871	NM_001130438.3(SPTAN1):c.4828C>T (p.Arg1610Trp)	SPTAN1 (R1610W +3 more)	Single nucleotide variant (missense variant)	SPTAN1-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 976410	NM_001130438.3(SPTAN1):c.4936C>T (p.Gln1646Ter)	SPTAN1 (Q1621* +4 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 5	GPathogenic
Select item 1325792	NM_001130438.3(SPTAN1):c.5326C>T (p.Arg1776Trp)	SPTAN1 (R1751W +4 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5 +1 more	GConflicting classifications of pathogenicity
Select item 1064825	NM_001130438.3(SPTAN1):c.6184C>T (p.Arg2062Trp)	SPTAN1 (R2037W +4 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GConflicting classifications of pathogenicity
Select item 207354	NM_001130438.3(SPTAN1):c.6488A>G (p.Lys2163Arg)	SPTAN1 (K2163R +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 976143	NM_001130438.3(SPTAN1):c.6611G>A (p.Arg2204Gln)	SPTAN1 (R2179Q +5 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5 +1 more	GUncertain significance
Select item 160024	NM_001130438.3(SPTAN1):c.6616GAG[1] (p.Glu2207del)	SPTAN1 (E2207del +5 more)	Microsatellite (inframe_deletion)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1325793	NM_001130438.3(SPTAN1):c.6622_6624del (p.Asn2208del)	SPTAN1 (N2183del +5 more)	Deletion (inframe_deletion)	Developmental and epileptic encephalopathy, 5	GLikely pathogenic
Select item 986935	NM_001130438.3(SPTAN1):c.6811G>A (p.Glu2271Lys)	SPTAN1 (E2246K +8 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1325794	NM_001130438.3(SPTAN1):c.6850_6852del (p.Asp2284del)	SPTAN1 (D2259del +8 more)	Deletion (inframe_deletion)	Developmental and epileptic encephalopathy, 5	GLikely pathogenic
Select item 160028	NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3])	SPTAN1	Microsatellite (inframe_insertion)	SPTAN1-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 207380	NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[1] (p.2300DQL[1])	SPTAN1	Microsatellite (inframe_deletion)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 1325795	NM_001130438.3(SPTAN1):c.6910_6918del (p.Gln2304_Gly2306del)	SPTAN1	Deletion (inframe_deletion)	Developmental and epileptic encephalopathy, 5	GLikely pathogenic
Select item 207370	NM_001130438.3(SPTAN1):c.6917GCATGC[3] (p.Arg2308_Met2309dup)	SPTAN1	Microsatellite (inframe_insertion)	Developmental and epileptic encephalopathy, 5 +2 more	GPathogenic/Likely pathogenic
Select item 1804130	NM_001130438.3(SPTAN1):c.6924_6929dup (p.Met2309_Gln2310insHisMet)	SPTAN1	Duplication (inframe_insertion)	Developmental and epileptic encephalopathy, 5	GPathogenic
Select item 976120	NM_001130438.3(SPTAN1):c.7234G>A (p.Glu2412Lys)	SPTAN1 (E2387K +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 624370	NM_001130438.3(SPTAN1):c.7316C>T (p.Thr2439Ile)	SPTAN1 (T2439I +4 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GConflicting classifications of pathogenicity
Select item 3359083	NM_001130438.3(SPTAN1):c.1033C>T (p.Gln345Ter)	SPTAN1 (Q345* +1 more)	Single nucleotide variant (nonsense)	Developmental delay with or without epilepsy	GPathogenic
Select item 3359021	NM_001130438.3(SPTAN1):c.6971G>A (p.Gly2324Asp)	SPTAN1 (G2299D +8 more)	Single nucleotide variant (missense variant)	Developmental delay with or without epilepsy	GUncertain significance

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Items: 34