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Gene: PAX6 & Disease: Fryns Microphthalmia Syndrome, 158 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count
304354	PAX6	c.*183dup	--	NM_001368894.2 M	Dup	VUS	9 +
304368	PAX6	c.-501del	--	NM_001368894.2 M	Del	VUS	9 +
304349	PAX6	c.*356del	--	NM_001368894.2 M	Del	VUS	9 +
304363	PAX6	c.-147_-146dup	--	NM_001368894.2 M	Dup	VUS	9 +
304354	PAX6	c.*183dup	--	NM_000280.6	Dup	VUS	9 +
	PAX6	c.*183dup	--	NM_001127612.3	Dup	VUS	9 +
	PAX6	c.*183dup	--	NM_001258462.3	Dup	VUS	9 +
	PAX6	c.*183dup	--	NM_001258463.2	Dup	VUS	9 +
	PAX6	c.*183dup	--	NM_001258464.2	Dup	VUS	9 +
	PAX6	c.*183dup	--	NM_001258465.3	Dup	VUS	9 +
	PAX6	c.*183dup	--	NM_001310158.2	Dup	VUS	9 +
	PAX6	c.*183dup	--	NM_001310160.2	Dup	VUS	9 +
	PAX6	c.*183dup	--	NM_001310161.3	Dup	VUS	9 +
	PAX6	c.*183dup	--	NM_001368887.2	Dup	VUS	9 +
	PAX6	c.*183dup	--	NM_001368888.2	Dup	VUS	9 +
	PAX6	c.*183dup	--	NM_001368889.2	Dup	VUS	9 +
	PAX6	c.*183dup	--	NM_001368890.2	Dup	VUS	9 +
	PAX6	c.*183dup	--	NM_001368891.2	Dup	VUS	9 +
	PAX6	c.*183dup	--	NM_001368892.2	Dup	VUS	9 +
	PAX6	c.*183dup	--	NM_001368893.2	Dup	VUS	9 +

158 Results, 20 per Page

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