CN072330[trait identifier] AND "GenomeConnect - Brain Gene Registry"[s - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 427613	NM_000314.8(PTEN):c.165-1G>C	PTEN	Single nucleotide variant (splice acceptor variant +1 more)	PTEN hamartoma tumor syndrome	GPathogenic FDA Recognized database
Select item 189474	NM_000314.8(PTEN):c.202T>C (p.Tyr68His)	PTEN (Y68H +1 more)	Single nucleotide variant (missense variant +1 more)	Glioma susceptibility 2 +7 more	GPathogenic/Likely pathogenic
Select item 822660	NM_000314.8(PTEN):c.302T>C (p.Ile101Thr)	PTEN (I101T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 7829	NM_000314.8(PTEN):c.389G>A (p.Arg130Gln)	PTEN (R130Q +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GPathogenic FDA Recognized database
Select item 439291	NM_000314.8(PTEN):c.548dup (p.Asn184fs)	PTEN (N357fs +1 more)	Duplication (frameshift variant +1 more)	not provided +3 more	GPathogenic
Select item 1064566	NM_000314.8(PTEN):c.752G>A (p.Gly251Asp)	PTEN (G251D +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 127693	NM_000314.8(PTEN):c.882T>G (p.Ser294Arg)	PTEN (S294R +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GLikely benign FDA Recognized database
Select item 2505108	NM_000314.8(PTEN):c.924_928dup (p.Asp310fs)	PTEN (D113fs +2 more)	Duplication (frameshift variant)	Cowden syndrome 1	GPathogenic

ClinVar