Related gene-specific medical variations for Gene (Select 5308) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366291	NM_000325.6(PITX2):c.634del (p.Leu212fs)	PITX2 (L159fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2581089	NM_000325.6(PITX2):c.522C>A (p.Tyr174Ter)	PITX2 (Y121* +2 more)	Single nucleotide variant (nonsense)	Pituitary stalk interruption syndrome	GUncertain significance
Select item 2500791	NC_000004.12:g.110650730_112833790del	ALPK1, ANK2 +55 more	Deletion	Axenfeld-Rieger syndrome type 1	GLikely pathogenic
Select item 1676338	NC_000004.12:g.110642266G>A	PITX2	Single nucleotide variant	not provided	GLikely benign
Select item 1184588	NM_000325.6(PITX2):c.347_378del (p.Tyr116fs)	PITX2 (Y109fs +2 more)	Deletion (frameshift variant)	Axenfeld-Rieger syndrome type 1	GLikely pathogenic
Select item 1183846	NM_000325.6(PITX2):c.-594C>G	PITX2, LOC129992966	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 932289	NM_000325.6(PITX2):c.500dup (p.Asn168fs)	PITX2 (N115fs +2 more)	Duplication (frameshift variant)	Anterior segment dysgenesis	GPathogenic
Select item 591909	NM_000325.6(PITX2):c.902T>G (p.Phe301Cys)	PITX2 (F248C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 161569	NM_000325.6(PITX2):c.580G>A (p.Ala194Thr)	PITX2 (A141T +2 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance

ClinVar