"MutSpliceDB: a database of splice sites variants effects on splicing, - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 576440	NM_000314.8(PTEN):c.210-2A>G	PTEN	Single nucleotide variant (splice acceptor variant)	PTEN hamartoma tumor syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1212448	NM_000314.8(PTEN):c.492+1G>A	PTEN	Single nucleotide variant (splice donor variant)	Cowden syndrome +4 more	GPathogenic/Likely pathogenic
Select item 141485	NM_000314.8(PTEN):c.493-2A>G	PTEN	Single nucleotide variant (splice acceptor variant)	PTEN hamartoma tumor syndrome	GPathogenic FDA Recognized database
Select item 692205	NM_000314.8(PTEN):c.635-3C>A	PTEN	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 427599	NM_000314.8(PTEN):c.635-3C>G	PTEN	Single nucleotide variant (intron variant)	PTEN hamartoma tumor syndrome	GLikely pathogenic FDA Recognized database
Select item 635375	NM_000314.8(PTEN):c.635-2A>C	PTEN	Single nucleotide variant (splice acceptor variant)	PTEN hamartoma tumor syndrome	GPathogenic
Select item 234446	NM_000314.8(PTEN):c.635-1G>C	PTEN	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 827393	NM_000314.8(PTEN):c.801+1G>T	PTEN	Single nucleotide variant (splice donor variant)	PTEN hamartoma tumor syndrome +2 more	GPathogenic
Select item 429241	NM_000314.8(PTEN):c.1026G>A (p.Lys342=)	PTEN	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 635377	NM_000314.8(PTEN):c.1026+1G>T	PTEN	Single nucleotide variant (splice donor variant)	Cowden syndrome 1 +2 more	GPathogenic/Likely pathogenic
Select item 189511	NM_000314.8(PTEN):c.1026+1G>C	PTEN	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 183722	NM_000314.8(PTEN):c.1026+1G>A	PTEN	Single nucleotide variant (splice donor variant)	PTEN hamartoma tumor syndrome	GPathogenic FDA Recognized database
Select item 428197	NM_000314.8(PTEN):c.1026+2T>G	PTEN	Single nucleotide variant (splice donor variant)	Cowden syndrome 1 +2 more	GPathogenic/Likely pathogenic
Select item 635376	NM_000314.8(PTEN):c.1027-2A>T	PTEN	Single nucleotide variant (splice acceptor variant)	Cowden syndrome 1	GLikely pathogenic