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Gene: GANAB & Disease: ADPKD, 25 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count
590347	GANAB	c.11_16del	p.Val4_Ala5del	NM_198334.3 M	Del	P	1 +
590355	GANAB	c.1541A>C	p.Asn514Thr (p.N514T)	NM_198334.3 M	SNV	VUS	1 +
590356	GANAB	c.1817C>G	p.Ala606Gly (p.A606G)	NM_198334.3 M	SNV	VUS	1 +
590347	GANAB	c.11_16del	p.Val4_Ala5del	NM_001278192.2	Del	P	1 +
	GANAB	c.11_16del	p.Val4_Ala5del	NM_001278193.2	Del	P	1 +
	GANAB	c.-172_-167del	--	NM_001278194.2	Del	P	1 +
	GANAB	c.-277_-272del	--	NM_001329223.2	Del	P	1 +
	GANAB	c.-766_-761del	--	NM_001329225.2	Del	P	1 +
	GANAB	c.11_16del	p.Val4_Ala5del	NM_198335.4	Del	P	1 +
590355	GANAB	c.1265A>C	p.Asn422Thr (p.N422T)	NM_001278192.2	SNV	VUS	1 +
	GANAB	c.1199A>C	p.Asn400Thr (p.N400T)	NM_001278193.2	SNV	VUS	1 +
	GANAB	c.1250A>C	p.Asn417Thr (p.N417T)	NM_001278194.2	SNV	VUS	1 +
	GANAB	c.1250A>C	p.Asn417Thr (p.N417T)	NM_001329222.2	SNV	VUS	1 +
	GANAB	c.1250A>C	p.Asn417Thr (p.N417T)	NM_001329223.2	SNV	VUS	1 +
	GANAB	c.818A>C	p.Asn273Thr (p.N273T)	NM_001329224.2	SNV	VUS	1 +
	GANAB	c.818A>C	p.Asn273Thr (p.N273T)	NM_001329225.2	SNV	VUS	1 +
	GANAB	c.1607A>C	p.Asn536Thr (p.N536T)	NM_198335.4	SNV	VUS	1 +
590356	GANAB	c.1541C>G	p.Ala514Gly (p.A514G)	NM_001278192.2	SNV	VUS	1 +
	GANAB	c.1475C>G	p.Ala492Gly (p.A492G)	NM_001278193.2	SNV	VUS	1 +
	GANAB	c.1526C>G	p.Ala509Gly (p.A509G)	NM_001278194.2	SNV	VUS	1 +

25 Results, 20 per Page

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