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

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1288717	NM_006949.4(STXBP2):c.37+64G>A	STXBP2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 260104	NM_006949.4(STXBP2):c.38-7C>T	STXBP2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 2628257	NM_006949.4(STXBP2):c.246+52_246+59dup	STXBP2	Duplication (intron variant)	not specified	GBenign
Select item 2688388	NM_006949.4(STXBP2):c.247-380TG[3]	STXBP2	Microsatellite (intron variant)	not specified	GBenign
Select item 2688502	NM_006949.4(STXBP2):c.247-373_247-372insCA	STXBP2	Insertion (intron variant)	not specified	GBenign
Select item 2688392	NM_006949.4(STXBP2):c.247-316TG[4]	STXBP2	Microsatellite (intron variant)	not specified	GBenign
Select item 2687923	NM_006949.4(STXBP2):c.247-176TG[6]	STXBP2	Microsatellite (intron variant)	not specified	GBenign
Select item 2628258	NM_006949.4(STXBP2):c.247-165G>A	STXBP2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2628259	NM_006949.4(STXBP2):c.902+32dup	STXBP2	Duplication (intron variant)	not specified	GBenign
Select item 260087	NM_006949.4(STXBP2):c.1247-43T>C	STXBP2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 260086	NM_006949.4(STXBP2):c.1247-10C>T	STXBP2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 260088	NM_006949.4(STXBP2):c.1356+18A>G	STXBP2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1264016	NM_006949.4(STXBP2):c.1356+77A>G	STXBP2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2687985	NM_006949.4(STXBP2):c.1356+411C>G	STXBP2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1239710	NM_006949.4(STXBP2):c.1357-281T>C	STXBP2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2688310	NM_006949.4(STXBP2):c.1357-215G>A	STXBP2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 260089	NM_006949.4(STXBP2):c.1443T>C (p.Asp481=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 260092	NM_006949.4(STXBP2):c.1538+28C>T	STXBP2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 260093	NM_006949.4(STXBP2):c.1539-47G>A	STXBP2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 260094	NM_006949.4(STXBP2):c.1576A>G (p.Ile526Val)	STXBP2 (I526V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 260099	NM_006949.4(STXBP2):c.1696+20A>G	STXBP2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 260100	NM_006949.4(STXBP2):c.1696+28G>C	STXBP2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1287453	NM_006949.4(STXBP2):c.1696+77G>A	STXBP2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2628269	NM_006949.4(STXBP2):c.1697-34C>G	STXBP2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 260102	NM_006949.4(STXBP2):c.1697-26T>G	STXBP2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign

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Items: 25