"Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan"[submitte - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 670623	NM_001130438.3(SPTAN1):c.505-89C>T	SPTAN1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 160023	NM_001130438.3(SPTAN1):c.651+37A>C	SPTAN1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1290912	NM_001130438.3(SPTAN1):c.1086-83A>G	SPTAN1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1166052	NM_001130438.3(SPTAN1):c.2163A>C (p.Ala721=)	SPTAN1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1240997	NM_001130438.3(SPTAN1):c.2194-82A>G	SPTAN1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 160001	NM_001130438.3(SPTAN1):c.2560+43G>A	SPTAN1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 160002	NM_001130438.3(SPTAN1):c.2560+47C>T	SPTAN1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 160009	NM_001130438.3(SPTAN1):c.3486C>T (p.Leu1162=)	SPTAN1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 5 +4 more	GBenign
Select item 160013	NM_001130438.3(SPTAN1):c.4905+41C>G	SPTAN1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1166053	NM_001130438.3(SPTAN1):c.5085A>G (p.Leu1695=)	SPTAN1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 139297	NM_001130438.3(SPTAN1):c.5406C>T (p.Thr1802=)	SPTAN1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 5 +4 more	GBenign
Select item 675006	NM_001130438.3(SPTAN1):c.5478+110C>G	SPTAN1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 160018	NM_001130438.3(SPTAN1):c.5479-41A>C	SPTAN1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 160021	NM_001130438.3(SPTAN1):c.6280-27C>T	SPTAN1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1228578	NM_001130438.3(SPTAN1):c.6576+94_6576+95insAA	SPTAN1	Insertion (intron variant)	not provided +1 more	GBenign
Select item 160025	NM_001130438.3(SPTAN1):c.6708-47G>A	SPTAN1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign