"Ambry Genetics"[submitter] AND "PAX6"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1498939	NM_001368894.2(PAX6):c.1282A>G (p.Met428Val)	ELP4, PAX6 (M495V +13 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Irido-corneo-trabecular dysgenesis +2 more	GUncertain significance
Select item 449734	NM_001368894.2(PAX6):c.1225+1G>T	PAX6	Single nucleotide variant (splice donor variant +1 more)	not provided +1 more	GPathogenic
Select item 3208982	NM_001368894.2(PAX6):c.1173G>A (p.Met391Ile)	PAX6 (M176I +8 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2480424	NM_001368894.2(PAX6):c.1159A>G (p.Thr387Ala)	PAX6 (T373A +8 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2484219	NM_001368894.2(PAX6):c.920C>G (p.Thr307Ser)	PAX6 (T157S +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2227354	NM_001368894.2(PAX6):c.691T>C (p.Phe231Leu)	PAX6 (F217L +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2309851	NM_001368894.2(PAX6):c.647T>C (p.Met216Thr)	PAX6 (M1T +9 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2953553	NM_001368894.2(PAX6):c.585A>C (p.Glu195Asp)	PAX6 (E195D +8 more)	Single nucleotide variant (missense variant +2 more)	Aniridia 1 +2 more	GUncertain significance
Select item 521078	NM_001368894.2(PAX6):c.510G>A (p.Trp170Ter)	PAX6 (W156* +8 more)	Single nucleotide variant (nonsense +1 more)	Aniridia 1 +2 more	GPathogenic
Select item 1377153	NM_001368894.2(PAX6):c.470A>G (p.Tyr157Cys)	PAX6 (Y168C +8 more)	Single nucleotide variant (missense variant +1 more)	Aniridia 1 +2 more	GUncertain significance
Select item 2281882	NM_001368894.2(PAX6):c.416G>A (p.Arg139Lys)	PAX6 (R140K +7 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3208983	NM_001368894.2(PAX6):c.18C>A (p.Ser6Arg)	PAX6 (S7R +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3304472	NM_001368894.2(PAX6):c.13C>T (p.His5Tyr)	PAX6 (H6Y +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance