"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 676688	NM_001368894.2(PAX6):c.1309T>A (p.Ter437Lys)	ELP4, PAX6 (S372R +4 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not provided	GLikely benign
Select item 1206596	NM_001368894.2(PAX6):c.1308G>A (p.Gln436=)	ELP4, PAX6 (S236N +4 more)	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1206379	NM_001368894.2(PAX6):c.1306C>A (p.Gln436Lys)	ELP4, PAX6 (Q221K +13 more)	Single nucleotide variant (missense variant +3 more)	not specified +1 more	GBenign/Likely benign
Select item 290049	NM_001368894.2(PAX6):c.1179A>C (p.Thr393=)	PAX6	Single nucleotide variant (synonymous variant +2 more)	Aniridia 1 +8 more	GConflicting classifications of pathogenicity
Select item 304356	NM_001368894.2(PAX6):c.873G>A (p.Gln291=)	PAX6	Single nucleotide variant (synonymous variant +1 more)	carboxymethyl-dextran-A2-gadolinium-DOTA +8 more	GConflicting classifications of pathogenicity
Select item 258168	NM_001368894.2(PAX6):c.808-12C>T	PAX6	Single nucleotide variant (intron variant)	not specified +10 more	GConflicting classifications of pathogenicity
Select item 304357	NM_001368894.2(PAX6):c.753G>A (p.Val251=)	PAX6	Single nucleotide variant (synonymous variant)	Foveal hypoplasia 1 +8 more	GConflicting classifications of pathogenicity
Select item 508559	NM_001368894.2(PAX6):c.465C>G (p.Gly155=)	PAX6	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1284343	NM_001368894.2(PAX6):c.435T>C (p.Ala145=)	PAX6	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +1 more	GBenign/Likely benign
Select item 798151	NM_001368894.2(PAX6):c.400-15_400-5del	PAX6	Microsatellite (intron variant)	PAX6-related disorder +2 more	GLikely benign
Select item 1206195	NM_001368894.2(PAX6):c.400-7T>C	PAX6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 92757	NM_001368894.2(PAX6):c.130C>A (p.Arg44=)	PAX6	Single nucleotide variant (synonymous variant +3 more)	PAX6-related disorder +3 more	GBenign/Likely benign