"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "SPTAN1"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2683067	NM_001130438.3(SPTAN1):c.862G>A (p.Ala288Thr)	SPTAN1 (A288T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163507	NM_001130438.3(SPTAN1):c.1097T>C (p.Phe366Ser)	SPTAN1 (F366S +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 1163508	NM_001130438.3(SPTAN1):c.1308T>G (p.Asp436Glu)	SPTAN1 (D436E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1386738	NM_001130438.3(SPTAN1):c.1696C>T (p.Arg566Trp)	SPTAN1 (R566W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 849192	NM_001130438.3(SPTAN1):c.2557G>A (p.Glu853Lys)	SPTAN1 (E865K +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 944998	NM_001130438.3(SPTAN1):c.3247C>T (p.Arg1083Cys)	SPTAN1 (R1063C +2 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GUncertain significance
Select item 286948	NM_001130438.3(SPTAN1):c.3974G>T (p.Gly1325Val)	SPTAN1 (G1325V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379901	NM_001130438.3(SPTAN1):c.5600+5G>A	SPTAN1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 936543	NM_001130438.3(SPTAN1):c.6070-3C>G	SPTAN1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 3379903	NM_001130438.3(SPTAN1):c.6314C>T (p.Ala2105Val)	SPTAN1 (A2080V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 680381	NM_001130438.3(SPTAN1):c.7199T>C (p.Met2400Thr)	SPTAN1 (M2380T +4 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GConflicting classifications of pathogenicity
Select item 1365272	NM_001130438.3(SPTAN1):c.7207C>T (p.Arg2403Cys)	SPTAN1 (R2378C +8 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 3379904	NM_001130438.3(SPTAN1):c.7286T>C (p.Val2429Ala)	SPTAN1 (V2404A +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance