"Bioinformatics Core, Luxembourg Center for Systems Biomedicine"[submi - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 433112	NM_001130438.3(SPTAN1):c.2224C>T (p.Arg742Cys)	SPTAN1 (R742C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 433113	NM_001130438.3(SPTAN1):c.3673C>T (p.Arg1225Trp)	SPTAN1 (R1225W +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GConflicting classifications of pathogenicity
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 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 433114	NM_001130438.3(SPTAN1):c.4852G>A (p.Gly1618Ser)	SPTAN1 (G1618S +3 more)	Single nucleotide variant (missense variant)	Childhood epilepsy with centrotemporal spikes	GPathogenic
Select item 433115	NM_001130438.3(SPTAN1):c.6854A>G (p.Asn2285Ser)	SPTAN1 (N2285S +4 more)	Single nucleotide variant (missense variant)	Childhood epilepsy with centrotemporal spikes	GPathogenic

ClinVar