"Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic C - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1331519	NM_001130438.3(SPTAN1):c.840dup (p.Asp281Ter)	SPTAN1 (D281* +1 more)	Duplication (nonsense)	Developmental and epileptic encephalopathy, 5	GLikely pathogenic
Select item 996072	NM_001130438.3(SPTAN1):c.4343A>C (p.Gln1448Pro)	SPTAN1 (Q1428P +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5	GPathogenic
Select item 1334709	NM_001130438.3(SPTAN1):c.6869A>G (p.His2290Arg)	SPTAN1 (H2265R +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2626909	NM_001130438.3(SPTAN1):c.6986C>T (p.Ala2329Val)	SPTAN1 (A2304V +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2692478	NM_001130438.3(SPTAN1):c.7031A>G (p.Lys2344Arg)	SPTAN1 (K2344R +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1676440	NM_001130438.3(SPTAN1):c.1210C>T (p.Gln404Ter)	SPTAN1 (Q404* +1 more)	Single nucleotide variant	Developmental and epileptic encephalopathy, 5	GLikely pathogenic

ClinVar