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Gene: PTEN & Disease: Hemimegalencephaly, 8 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1048543	PTEN	c.255_262delTGCACAATinsC	--	NM_000314.8 M	Indel	P	1 +	1
1048543	PTEN	c.255_262delinsC	p.Ala86fs (p.A86fs)	NM_000314.8 M	Indel	P	1 +	1
1048544	PTEN	c.1110_1111dupTG	--	NM_000314.8 M	Dup	P	1 +	1
1048544	PTEN	c.1110_1111dup	p.Asp371fs (p.D371fs)	NM_000314.8 M	Dup	P	1 +	1
1048543	PTEN	c.774_781delinsC	p.Ala259fs (p.A259fs)	NM_001304717.5	Indel	P	1 +	1
1048543	PTEN	c.-496_-489delinsC	--	NM_001304718.2	Indel	P	1 +	1
1048544	PTEN	c.1629_1630dup	p.Asp544fs (p.D544fs)	NM_001304717.5	Dup	P	1 +	1
1048544	PTEN	c.519_520dup	p.Asp174fs (p.D174fs)	NM_001304718.2	Dup	P	1 +	1

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