"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[s - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 930357	NM_001130438.3(SPTAN1):c.364-3C>G	SPTAN1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 5	GUncertain significance
Select item 436848	NM_001130438.3(SPTAN1):c.511A>G (p.Ile171Val)	SPTAN1 (I171V)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 930568	NM_001130438.3(SPTAN1):c.1456C>G (p.Gln486Glu)	SPTAN1 (Q486E +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5	GUncertain significance
Select item 930479	NM_001130438.3(SPTAN1):c.3196A>G (p.Met1066Val)	SPTAN1 (M1078V +1 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 207287	NM_001130438.3(SPTAN1):c.4046G>A (p.Arg1349Gln)	SPTAN1 (R1349Q +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
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 931620	NM_001130438.3(SPTAN1):c.7378G>A (p.Glu2460Lys)	SPTAN1 (E2460K +8 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ANGPTL2, ANKS6 +555 more	Copy number gain	Seizure +2 more	GLikely pathogenic