C3150731[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2582657	NM_001130438.3(SPTAN1):c.1972A>C (p.Ser658Arg)	SPTAN1 (S658R +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5 +1 more	GUncertain significance
Select item 1033315	NM_001130438.3(SPTAN1):c.2422G>T (p.Ala808Ser)	SPTAN1 (A820S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5	GUncertain significance
Select item 1033316	NM_001130438.3(SPTAN1):c.3775G>A (p.Asp1259Asn)	SPTAN1 (D1239N +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5	GUncertain significance
Select item 1187699	NM_001130438.3(SPTAN1):c.3991C>A (p.Arg1331Ser)	SPTAN1 (R1311S +2 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GUncertain significance
Select item 461224	NM_001130438.3(SPTAN1):c.4133T>C (p.Leu1378Pro)	SPTAN1 (L1378P +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5 +3 more	GUncertain significance
Select item 2442060	NM_001130438.3(SPTAN1):c.4350C>A (p.Phe1450Leu)	SPTAN1 (F1430L +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5	GUncertain significance
Select item 2582524	NM_001130438.3(SPTAN1):c.5567_5568del (p.His1856fs)	SPTAN1 (H1831fs +4 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 5	GLikely pathogenic
Select item 833965	NM_001130438.3(SPTAN1):c.6661G>A (p.Ala2221Thr)	SPTAN1 (A2233T +5 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5 +1 more	GConflicting classifications of pathogenicity
Select item 1015065	NM_001130438.3(SPTAN1):c.7160+5_7160+9del	SPTAN1	Deletion (splice donor variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance