ClinVar for MedGen (Select 322281) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382303	NM_001368894.2(PAX6):c.535G>T (p.Gly179Trp)	PAX6 (G112W +8 more)	Single nucleotide variant (missense variant +1 more)	Foveal hypoplasia 1 +6 more	GUncertain significance
Select item 2920693	NM_001368894.2(PAX6):c.400G>A (p.Val134Met)	PAX6 (V159M +7 more)	Single nucleotide variant (missense variant +2 more)	Developmental disorder +1 more	GConflicting classifications of pathogenicity
Select item 1652503	NM_001368894.2(PAX6):c.1221A>C (p.Ser407=)	PAX6	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant keratitis +7 more	GLikely benign
Select item 1385887	NM_001368894.2(PAX6):c.556_564del (p.Pro186_Gln188del)	PAX6	Deletion (inframe_deletion +1 more)	Foveal hypoplasia 1 +7 more	GUncertain significance
Select item 800413	NM_001368894.2(PAX6):c.256G>C (p.Gly86Arg)	PAX6 (G153R +5 more)	Single nucleotide variant (missense variant +3 more)	Foveal hypoplasia 1 +5 more	GLikely pathogenic
Select item 522379	NM_000280.4:c.1267A>T	PAX6	Single nucleotide variant	Isolated optic nerve hypoplasia	GLikely pathogenic
Select item 279862	NM_001368894.2(PAX6):c.823C>T (p.Arg275Ter)	PAX6 (R261* +9 more)	Single nucleotide variant (nonsense +1 more)	not provided +10 more	GPathogenic
Select item 3476	NM_001368894.2(PAX6):c.655C>T (p.Gln219Ter)	PAX6 (Q205* +9 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
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)	Irido-corneo-trabecular dysgenesis +8 more	GPathogenic/Likely pathogenic