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Gene: PI4KA & Disease: SPG84, 19 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1325875	PI4KA	c.5456AAG[1]	p.Glu1820Del (p.E1820del)	NM_058004.4 M	MS	P	1 +	1
1325876	PI4KA	c.4666G>A	p.Val1556Met (p.V1556M)	NM_058004.4 M	SNV	P	1 +	1
1325877	PI4KA	c.5159C>T	p.Thr1720Ile (p.T1720I)	NM_058004.4 M	SNV	P	1 +	1
623974	PI4KA	c.5596G>A	p.Asp1866Asn (p.D1866N)	NM_058004.4 M	SNV	VUS	3 +	1
1325874	PI4KA	c.6156_6159del	p.Thr2053fs (p.T2053fs)	NM_058004.4 M	Del	P	2 +	1
1705451	PI4KA	c.5653C>T	p.Arg1885Cys (p.R1885C)	NM_058004.4 M	SNV	VUS	1 +	1
1325875	PI4KA	c.5459_5461del	--	NM_058004.4 M	MS	P	1 +	1
	PI4KA	c.5363AAG[1]	p.Glu1789Del (p.E1789del)	NM_001362862.2	MS	P	1 +	1
	PI4KA	c.5390AAG[1]	p.Glu1798Del (p.E1798del)	NM_001362863.2	MS	P	1 +	1
1325876	PI4KA	c.4573G>A	p.Val1525Met (p.V1525M)	NM_001362862.2	SNV	P	1 +	1
1325876	PI4KA	c.4600G>A	p.Val1534Met (p.V1534M)	NM_001362863.2	SNV	P	1 +	1
1325877	PI4KA	c.5066C>T	p.Thr1689Ile (p.T1689I)	NM_001362862.2	SNV	P	1 +	1
1325877	PI4KA	c.5093C>T	p.Thr1698Ile (p.T1698I)	NM_001362863.2	SNV	P	1 +	1
623974	PI4KA	c.5503G>A	p.Asp1835Asn (p.D1835N)	NM_001362862.2	SNV	VUS	3 +	1
623974	PI4KA	c.5530G>A	p.Asp1844Asn (p.D1844N)	NM_001362863.2	SNV	VUS	3 +	1
1325874	PI4KA	c.6063_6066del	p.Thr2022fs (p.T2022fs)	NM_001362862.2	Del	P	2 +	1
1325874	PI4KA	c.6090_6093del	p.Thr2031fs (p.T2031fs)	NM_001362863.2	Del	P	2 +	1
1705451	PI4KA	c.5560C>T	p.Arg1854Cys (p.R1854C)	NM_001362862.2	SNV	VUS	1 +	1
1705451	PI4KA	c.5587C>T	p.Arg1863Cys (p.R1863C)	NM_001362863.2	SNV	VUS	1 +	1

19 Results, 20 per Page

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