"Eurofins Ntd Llc (ga)"[submitter] AND "PAX6"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3474	NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu)	ELP4, PAX6 (K387* +4 more)	Single nucleotide variant (3 prime UTR variant +3 more)	Congenital ocular coloboma +8 more	GConflicting classifications of pathogenicity
Select item 194162	NM_001368894.2(PAX6):c.1280_1284dup (p.Ser429fs)	ELP4, PAX6 (C364* +13 more)	Duplication (3 prime UTR variant +3 more)	not provided	GPathogenic
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 289617	NM_001368894.2(PAX6):c.1075-3C>G	PAX6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 167416	NM_001368894.2(PAX6):c.1032G>A (p.Pro344=)	PAX6	Single nucleotide variant (synonymous variant +1 more)	PAX6-related condition +4 more	GConflicting classifications of pathogenicity
Select item 500037	NM_001368894.2(PAX6):c.997G>A (p.Asp333Asn)	PAX6 (D319N +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 500036	NM_001368894.2(PAX6):c.994del (p.Thr332fs)	PAX6 (T251fs +9 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 193575	NM_001368894.2(PAX6):c.921_936dup (p.Ile313fs)	PAX6 (I313fs +9 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
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 372441	NM_001368894.2(PAX6):c.664C>T (p.Arg222Trp)	ELP4, PAX6 (R208W +9 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 3466	NM_001368894.2(PAX6):c.649C>T (p.Arg217Ter)	PAX6 (R203* +9 more)	Single nucleotide variant (nonsense +1 more)	Aniridia 1 +2 more	GPathogenic
Select item 291009	NM_001368894.2(PAX6):c.619A>G (p.Asn207Asp)	PAX6 (N193D +8 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 286249	NM_001368894.2(PAX6):c.524del (p.Gly175fs)	PAX6 (G161fs +8 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 284286	NM_000280.4(PAX6):c.358delG	PAX6	Deletion (genic upstream transcript variant)	not provided +2 more	GPathogenic
Select item 92758	NM_001368894.2(PAX6):c.399+1G>A	PAX6	Single nucleotide variant (5 prime UTR variant +2 more)	Aniridia 1 +3 more	GPathogenic
Select item 283431	NM_001368894.2(PAX6):c.275T>C (p.Val92Ala)	PAX6 (V78A +5 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 167417	NM_001368894.2(PAX6):c.192C>A (p.Asn64Lys)	PAX6 (N50K +5 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 92757	NM_001368894.2(PAX6):c.130C>A (p.Arg44=)	PAX6	Single nucleotide variant (synonymous variant +3 more)	Aniridia 1 +3 more	GBenign/Likely benign
Select item 289612	NM_001368894.2(PAX6):c.121G>C (p.Asp41His)	PAX6 (D41H +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 289849	NM_001368894.2(PAX6):c.52G>C (p.Gly18Arg)	PAX6 (G18R +2 more)	Single nucleotide variant (missense variant +3 more)	PAX6-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 92759	NM_001368894.2(PAX6):c.46del (p.Val16fs)	PAX6 (V16fs +2 more)	Deletion (frameshift variant +3 more)	not provided	GPathogenic

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Items: 21